List of rare diseases and synonyms - Orphanet

January 2018

List of rare diseases and synonyms: Listed in alphabetical order

www.orpha.net

www.orphadata.org

METHODOLOGY Orphanet provides a comprehensive inventory of rare diseases in Europe, published biannually as a list. Rare diseases registered in Orphanet are defined according to two scopes:





Every entity is defined by its clinical homogeneity, regardless of its etiology or the number of causing genes identified; The rarity is defined according to the European legislation defining a prevalence threshold of not more than 5 affected persons per 10’000 (Regulation (EC) N°141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products, http://ec.europa.eu/health/files/eudralex/vol1/reg_2000_141/reg_2000_141_en.pdf).

Registered rare diseases have been described in the international scientific literature (peer-reviewed articles) with at least two cases confirming that the clinical signs are not associated fortuitously. However, some diseases are registered although only one case has been reported in order to reproduce the comprehensiveness of a specific classification (notably within the classification of inborn errors of metabolism). Rare diseases are registered with a preferred name and as many synonyms as necessary. A unique identifier, the ORPHA number, is randomly attributed by the database to each disease. This number is never re-used, so it is stable in time. ORPHA number of rare diseases registered in the past may be absent from the current inventory. This is due to:

 

Obsolescence of entries (e.g. duplicated entities, diseases that are not rare anymore); Deprecation of entities when an entity no longer exists per se but has been recognised as being another entity. In this case, information regarding the deprecated entity is moved and the users are redirected to the target entry.

Data collection As new scientific knowledge arises, the Orphanet rare diseases inventory is updated through the regular addition/update of diseases via two non-exclusive sources: documented sources and/or expert advice. The scientific knowledge is monitored through:



A bi-monthly analysis of a defined set of international peer-reviewed scientific journals covering the diversity of medical specialities represented in Orphanet;



A monthly Medline search algorithm: (nosology[Title] OR classification[Title] OR nomenclature[Title] OR terminology[Title]) AND (rare disease* OR syndrome* OR disorder*);



Specific Medline queries according to requests from experts, users of the database or needs arising from services newly registered in Orphanet (e.g. diagnostic test, expert centre, patient organisation).

Update of the inventory of rare diseases is assessed monthly by a medical and scientific committee within Orphanet and further validated by consulted experts. The Orphanet rare disease nomenclature is produced in English and is translated into other languages. A medical validation of the translations is carried out.

Data presentation Preferred names and synonyms of diseases are listed by alphabetical order with their ORPHA number. Deprecated entities are listed with the ORPHA number to be used preceded by the sign “→ “. A table in annex lists the name of the rare disease and its ORPHA number to be used instead of the deprecated entries. Obsolete entries are not listed here. In the case of duplicates, the nomenclature of the obsolete entry has been added to the rare disease listed here.

Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - January 2018 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf

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Rare diseases listed in alphabetical order ORPHA Disease name number 289157 1-alpha-hydroxylase deficiency 431361 976 79154 391417 391428 391428 391457 391417

391428

391428

391457

79095 79157 79157 255182 869 2616 79301 20 20 35701 939 134 1035 6 6 67046 111 67047 67048

2,4-dienoyl-CoA reductase deficiency 2,8-dihydroxyadenine urolithiasis 2-aminoadipic 2-oxoadipic aciduria 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyric aciduria, classic type 2-methyl-3-hydroxybutyric aciduria, infantile type 2-methyl-3-hydroxybutyric aciduria, neonatal type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type 2-methylacyl-CoA racemase deficiency 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-oxoglutarate complex deficiency 2A syndrome 3-M syndrome 3-beta-hydroxy-delta-5-C27steroid oxidoreductase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyisobutyric aciduria 3-ketothiolase deficiency 3-mercaptopyruvate sulfurtransferase deficiency 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonylglycinuria 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4

ORPHA Disease name number 66634 3-methylglutaconic aciduria type 5 445038 3-methylglutaconic aciduria type 7

ORPHA Disease name number 99763 18-hydroxylase deficiency 99763 18-oxidase deficiency 881

3-methylglutaconic aciduria with 352328 deafness-encephalopathy-Leigh-

like syndrome 3-methylglutaconic aciduria445038 cataract-neurologic involvementneutropenia syndrome 3-methylglutaconyl-CoA hydratase 67046 deficiency 134 3-oxothiolase deficiency 3-phosphoglycerate 79351 dehydrogenase deficiency, infantile/juvenile form 3-phosphoglycerate 2671 dehydrogenase deficiency, neonatal form 3-phosphoserine phosphatase 79350 deficiency 869 3A syndrome 7 3C syndrome 2616 3M syndrome 293843 3MC syndrome →293843 3MC1 syndrome →293843 3MC2 syndrome →293843 3MC3 syndrome 67046 3MG-CoA hydratase deficiency 2118 4-HPPD deficiency 4-alpha-hydroxyphenylpyruvate 2118 hydroxylase deficiency 22 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvic acid 2118 dioxygenase deficiency 869 4A syndrome 88637 4H syndrome 5-amino-4-imidazole carboxamide 250977 ribosiduria 217064 5-fluorouracil intoxication 217064 5-fluorouracil poisoning 33572 5-oxoprolinase deficiency 6-phosphogluconate 99135 dehydrogenase deficiency 6-pyruvoyl-tetrahydropterin 13 synthase deficiency 7-dehydrocholesterol reductase 818 deficiency 11-beta-hydroxysteroid 168588 dehydrogenase deficiency type 1 11-beta-hydroxysteroid 320 dehydrogenase deficiency type 2 17-beta-hydroxysteroid 752 dehydrogenase 3 deficiency 752 17-ketoreductase deficiency 17-ketosteroidreductase 752 deficiency

881 1772 1772 1772 1772 243

2973

2975 243 243 444048 2138 2138 243 393 393 199310 242 753 755 325448 96265 96265

96265

96265

755

325448 96266 96266 96266

45,X syndrome 45,X/46,XX syndrome 45,X/46,XY MGD 45,X/46,XY mixed gonadal dysgenesis 45,X0/46,XY MGD 45,X0/46,XY mixed gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX gonadal dysgenesis 46,XX ovarian dysgenesis 46,XX ovarian dysgenesis-short stature syndrome 46,XX ovotesticular DSD 46,XX ovotesticular disorder of sex development 46,XX pure gonadal dysgenesis 46,XX testicular DSD 46,XX testicular disorder of sex development 46,XX/46,XY chimerism 46,XY CGD 46,XY DSD due to 5-alphareductase 2 deficiency 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to LHB deficiency 46,XY DSD due to complete LH receptor inactivation 46,XY DSD due to complete LH resistance 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY DSD due to complete luteinizing hormone resistance 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY DSD due to partial LH receptor inactivation 46,XY DSD due to partial LH resistance 46,XY DSD due to partial luteinizing hormone resistance

→ This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used.


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ORPHA Disease name number 251510 46,XY PGD 242

96266

96266

96266

752

753

755

325448

96265

96265

96265

96265

90796

755

325448

443087

168558

168563 325345 325345 251510

46,XY complete gonadal dysgenesis 46,XY disorder of sex developement due to partial LH receptor inactivation 46,XY disorder of sex developement due to partial LH resistance 46,XY disorder of sex developement due to partial luteinizing hormone resistance 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY ovotesticular DSD 46,XY ovotesticular disorder of sex development 46,XY partial gonadal dysgenesis

ORPHA Disease name number 251510 46,XY partial testicular dysgenesis 242 46,XY pure gonadal dysgenesis 3375 47,XXX syndrome 8 9 96263 10 99329 11 96264 261534 99330 293948 401986 456298 1606 250989 250994 250999 250999 238769 363680 261349 261349 163693 163693 369881 228402 313947 1617 251014 294026 251019 251019 251028 1001 1620 435638 65286 65286 1621 96095 356947 356947 397695 65286 251038 280 96072 238750

47,XYY syndrome 48,XXXX syndrome 48,XXXY syndrome 48,XXYY syndrome 48,XYYY syndrome 49,XXXXX syndrome 49,XXXXY syndrome 49,XXXYY syndrome 49,XYYYY syndrome 1p21.3 microdeletion syndrome 1p31p32 microdeletion syndrome 1p35.2 microdeletion syndrome 1p36 deletion syndrome 1q21.1 microdeletion syndrome 1q21.1 microduplication syndrome 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome 1q44 microdeletion syndrome 2p13.2 microdeletion syndrome 2p15-p16.1 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p21 deletion syndrome 2p21 microdeletion syndrome 2p21 microdeletion syndrome without cystinuria 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q24 microdeletion syndrome 2q31.1 microdeletion syndrome 2q31.1 microduplication syndrome 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3p- syndrome 3p25.3 microdeletion syndrome 3q subtelomere deletion syndrome 3qter deletion 3q13 microdeletion syndrome 3q26 microduplication syndrome 3q26-q27microdeletion syndrome 3q26q27 microdeletion syndrome 3q27.3 microdeletion syndrome 3q29 microdeletion syndrome 3q29 microduplication syndrome 4p- syndrome 4p16.3 microduplication syndrome 4q21 microdeletion syndrome

ORPHA Disease name number 329802 5p13 microduplication syndrome 86841 5q- syndrome 228384 5q14.3 microdeletion syndrome 436003 5q23 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 228415 5q35 microduplication syndrome 96125 251046 96125 75857 171829 251056 314034 96121 251061 459074 96092 168953 251066 251076 251071 228399 2496 284160 178303 261112 261112 324313 96147 96147 352665 401923 495818 495818 284169 276413 276422 1307 52022 300305 444002 444002 313884

6p subtelomeric deletion syndrome 6p22 microdeletion syndrome 6p25 microdeletion syndrome 6q terminal deletion syndrome 6q16 deletion syndrome 6q25 microdeletion syndrome 7p22.1 microduplication syndrome 7q11.23 microduplication syndrome 7q31 microdeletion syndrome 7q36.3 microduplication syndrome 8p inverted duplication/deletion syndrome 8p11 myeloproliferative syndrome 8p11.2 deletion syndrome 8p23.1 duplication syndrome 8p23.1 microdeletion syndrome 8q12 microduplication syndrome 8q13 microdeletion syndrome 8q21.11 microdeletion syndrome 8q22.1 microdeletion syndrome 9p deletion syndrome 9p- syndrome 9p13 microdeletion syndrome 9q subtelomeric deletion syndrome 9qSTDS 9q21 microdeletion syndrome 9q31.1q31.3 microdeletion syndrome 9q33.3-q34.11 microdeletion syndrome 9q33.3q34.11 microdeletion syndrome 10p12p11 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microduplication syndrome 10q24 microduplication syndrome 11p11.2 deletion 11p15.4 microduplication syndrome 11q22.2-q22.3 deletion syndrome 11q22.2q22.3 microdeletion syndrome 12p12.1 microdeletion syndrome



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ORPHA Disease name number 280325 12p13.33 microdeletion syndrome 94063 12q14 microdeletion syndrome 289513 412035 1590 261120 261229 261144 →3157 264200 264200 401935 488280 314585 238446 238446 261183 238446 238446 199318 261190 94065 1596 363992 261211 261211 261204 485405 261236 261243 500055 96078 352629 261250 819 1713 477817 217385 217385

12q15q21.1 microdeletion syndrome 13q12.3 microdeletion syndrome 13q32 deletion 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome 14q12 microdeletion syndrome 14q22 microdeletion syndrome 14q22-q23 microdeletion syndrome 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 14q32 duplication syndrome 15q overgrowth syndrome 15q11-q13 duplication syndrome 15q11-q13 microduplication syndrome 15q11.2 microdeletion syndrome 15q11q13 duplication syndrome 15q11q13 microduplication syndrome 15q13.3 microdeletion syndrome 15q14 microdeletion syndrome 15q24 microdeletion syndrome 15q26 deletion syndrome 15q26.3 microdeletion syndrome 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microduplication syndrome 16p12.1p12.3 triplication syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16p13.2 microdeletion syndrome 16p13.3 microduplication syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome 17p11.2 microdeletion syndrome 17p11.2 microduplication syndrome 17p11.2p12 microduplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome

ORPHA Disease name number 97685 17q11 microdeletion syndrome 139474 261265 261272 363958 217340 261279 261279 1598 1600 1600 254346 357001 447980 217346 313781 261295 313781 444051 363659 261311 574 574 261323 261323 268261 268261 567 567 1727 48652 85445 869 35708 91385 100055 100055 1414 284460 93560 238269 439232 915

17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome 18p- syndrome 18q deletion syndrome 18q- syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19p13.3 microduplication syndrome 19q13.11 microdeletion syndrome 20p subtelomeric deletion syndrome 20p12.3 microdeletion syndrome 20p13 microdeletion syndrome 20q11.2 microdeletion syndrome 20q11.2 microduplication syndrome 20q13.33 microdeletion syndrome 21q deletion syndrome 21q- syndrome 21q22.11-q22.12 microdeletion syndrome 21q22.11q22.12 microdeletion syndrome 21q22.13-q22.2 microdeletion syndrome 21q22.13q22.2 microdeletion syndrome 22q11DS 22q11.2 deletion syndrome 22q11.2 microduplication syndrome 22q13 deletion AA amyloidosis AAA syndrome AADC deficiency AAE AAE 2 AAE II Aagenaes syndrome AAOR AApoAI amyloidosis AApoAII amyloidosis AApoAIV amyloidosis Aarskog syndrome

ORPHA Disease name number 1974 Aarskog-like syndrome 3163 Aarskog-Ose-Pande syndrome 915 124 916 124 916 69663 →897 2970 800 85446 324723 100006 324718 324708 324713 324703 324718 324718 324708 324723 324713 100006 324703 324703 14 920 99089 99050 1164 97345 921 69739 2310 99112 1658 1658 99112 101206

99048 980 99114

Aarskog-Scott syndrome Aase syndrome Aase-Smith I syndrome Aase-Smith II syndrome Aase-Smith syndrome ABCB4 gene mutation-associated cholelithiasis ABCD syndrome Abdominal muscle deficiency syndrome Aberfeld syndrome ABeta2Mwt amyloidosis ABeta amyloidosis, Arctic type ABeta amyloidosis, Dutch type ABeta amyloidosis, Flemish type ABeta amyloidosis, Iowa type ABeta amyloidosis, Italian type ABeta amyloidosis, Piedmont type ABetaA21G amyloidosis ABetaA21G-related amyloidosis ABetaD23N amyloidosis ABetaE22G amyloidosis ABetaE22K amyloidosis ABetaE22Q amyloidosis ABetaL34V amyloidosis ABetaL34V-related amyloidosis Abetalipoproteinemia Ablepharon macrostomia syndrome Abnormal number of coronary ostia Abnormal origin of right or left pulmonary artery from the aorta ABPA ABri amyloidosis Abruzzo-Erickson syndrome ABSD Absence deformity of leg-cataract syndrome Absence of brachiocephalic vein Absence of dermatoglyphicscongenital milia syndrome Absence of fingerprints-congenital milia syndrome Absence of innominate vein Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome Absence of pulmonary valveventricular septal defect-persistent ductus arteriosus syndrome Absence of the pulmonary artery Absence of the superior caval vein



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ORPHA Disease name number 99114 Absence of the superior vena cava 99114 Absence of the SVC 2985

85201

3016 2951 988 3328 225147 99901 42 26792 945 67043 79468 300504 90301 926 2508 561 180182 99061 141096 674 95462 1005 210122 48818 464458 99736 99736 2008 930 869 →869 929 294983 295103 295101

Absent eyebrows and eyelashesintellectual disability syndrome Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome Absent radius-anogenital anomalies syndrome Absent thumb-short statureimmunodeficiency syndrome Absent tibia-polydactyly syndrome Absent tibia-polydactylyarachnoid cyst syndrome ABSN ACAD9 deficiency ACADM deficiency ACADS deficiency Acalvaria Acanthamoeba keratitis Acanthokeratolytic verrucous nevus Acanthoma of the nail matrix Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Acatalasemia ACC-abnormal genitalia syndrome Accelerated skeletal maturationfacial dysmorphism-failure to thrive syndrome Accessory breasts Accessory mitral valve tissue Accessory nostril Accessory pancreas Accessory tricuspid valve tissue ACD-intellectual disability syndrome ACDMPV Aceruloplasminemia Acetaminophen poisoning Acetazolamide-responsive congenital myotonia Acetazolamide-responsive myotonia ACFS Achalasia cardia Achalasia-addisonianism-alacrima syndrome Achalasia-alacrimia syndrome Achalasia-microcephaly syndrome Acheiria Acheiria, bilateral Acheiria, unilateral

ORPHA Disease name number 931 Acheiropodia 931 Acheiropody 49382 932 93299 93298 93296 93299 93296 93298 15 935 935 935 49382 355 333 424046 40366 79099 2561 79099 51890 43115 252175 252175 252175 65759 65798 306431 90065 91385 100056 100055 91385 100056 100055 91385 91385 95626 95626 454700

ACHM Achondrogenesis Achondrogenesis type 1A Achondrogenesis type 1B Achondrogenesis type 2 Achondrogenesis, Houston-Harris type Achondrogenesis, Langer-Saldino type Achondrogenesis, Parenti-Fraccaro type Achondroplasia Achondroplasia-SCID syndrome Achondroplasia-severe combined immunodeficiency syndrome Achondroplasia-Swiss type agammaglobulinemia syndrome Achromatopsia Acid beta-glucosidase deficiency Acid ceramidase deficiency Acinar cell carcinoma of pancreas Acitretin/etretinate embryopathy Ackerman dermatitis syndrome Ackerman fused molar rooth syndrome Ackerman syndrome ACNES Aconitase deficiency Acoustic neurilemoma Acoustic neurinoma Acoustic neuroma ACPS2 ACPS4 Acquired adult-onset immunodeficiency Acquired aneurysmal subarachnoid hemorrhage Acquired angioedema Acquired angioedema type 1 Acquired angioedema type 2 Acquired angioneurotic edema Acquired angioneurotic edema type 1 Acquired angioneurotic edema type 2 Acquired bradykinine-induced angioedema Acquired C1 inhibitor deficiency Acquired CDI Acquired central diabetes insipidus Acquired Creutzfeldt-Jakob disease

ORPHA Disease name number 228285 Acquired cutis laxa 404514 46487 98818 91136

79086 228247 231401 231401 158057 73274 2221 26348 454 75564 37559 79086 464453 91136

91136 589 95626 84142 91385 314697 729 26348 228247 49566 228247 206575 485275 93585 93585 99147 99147 263534

Acquired cystic disease-associated renal cell carcinoma Acquired epidermolysis bullosa Acquired epileptic aphasia Acquired Fanconi syndrome secondary to monoclonal gammopathy Acquired generalized lipodystrophy Acquired Gronblad-StrandbergTouraine syndrome Acquired HbH disease Acquired hemoglobin H disease Acquired hemophagocytic lymphohistiocytosis associated with malignant disease Acquired hemophilia Acquired hypertrichosis lanuginosa Acquired hypoprothrombinemia Acquired ichthyosis Acquired idiopathic sideroblastic anemia Acquired kinky hair syndrome Acquired lipoatrophic diabetes Acquired methemoglobinemia Acquired monoclonal Ig light chain-associated Fanconi syndrome Acquired monoclonal immunoglobulin light chainassociated Fanconi syndrome Acquired myasthenia Acquired neurogenic diabetes insipidus Acquired neuromyotonia Acquired non histamine-induced angioedema Acquired porencephaly Acquired primary erythrocytosis Acquired prothrombin deficiency Acquired pseudoxanthoma elasticum Acquired purpura fulminans Acquired PXE Acquired rippling muscle disease Acquired schizencephaly Acquired thrombotic thrombocytopenic purpura Acquired TTP Acquired von Willebrand disease Acquired von Willebrand syndrome Acral deciduous skin



7

ORPHA number 97360 158673 263534 90396 263534 281127 281127 978 958 959 36 63446 2008 221054 221054 65759 65798 87 794 710 63440 949 955 163931 37 37 978 950 280651 950 2956 1786 246 64542 1787 1788 952 1784 2211 2211 2500

Disease name

Acral dysostosis with facial and genital abnormalities Acral dystrophic epidermolysis bullosa Acral peeling skin syndrome Acral persistent papular mucinosis Acral PSS Acral self-healing collodion baby Acral SHCB Acro-dermato-ungual-lacrimaltooth syndrome Acro-renal-mandibular syndrome Acro-renal-ocular syndrome Acrocallosal syndrome Acrocapitofemoral dysplasia Acrocardiofacial syndrome Acrocephalopolydactylous dysplasia Acrocephalopolydactyly Acrocephalopolysyndactyly type 2 Acrocephalopolysyndactyly type 4 Acrocephalosyndactyly type 1 Acrocephalosyndactyly type 3 Acrocephalosyndactyly type 5 Acrocephaly Acrocraniofacial dysostosis Acrodentoosteodysplasia Acrodermatitis continua of Hallopeau Acrodermatitis enteropathica Acrodermatitis enteropathica, zinc deficiency type Acrodermatounguallacrimaltooth syndrome Acrodysostosis Acrodysostosis with multiple hormone resistance Acrodysplasia Acrodysplasia scoliosis Acrofacial dysostosis, Catania type Acrofacial dysostosis, GeneeWiedmann type Acrofacial dysostosis, KennedyTeebi type Acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Rodríguez type Acrofacial dysostosis, Weyers type Acrofrontofacionasal dysostosis Acrofrontofacionasal dysostosis type 2 Acrofrontofacionasal syndrome type 2 Acrogeria

ORPHA Disease name number 2500 Acrogeria, Gottron type 38 Acrokeratoelastoidosis of Costa 166113 Acrokeratosis of Bazex 166113 Acrokeratosis paraneoplastica 166113 79151 965 963 →2796 39 1827 1827 968 2098 968 40 2500 969 955 955 363665 2980 85203 956 957 41 1133 971 85203 36 87 794 710 98904 254395 254395 330061 330064 457095 163696 397596 101089 73423

Acrokeratosis paraneoplastica of Bazex Acrokeratosis verruciformis of Hopf Acromegaloid facial appearance syndrome Acromegaly Acromegaly-cutis verticis gyratacorneal leukoma syndrome Acromelanosis Acromelic frontonasal dysostosis Acromelic frontonasal dysplasia Acromesomelic dwarfism Acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, HunterThompson type Acromesomelic dysplasia, Maroteaux type Acrometageria Acromicric dysplasia Acroosteolysis dominant type Acroosteolysis with osteoporosis and changes in skull and mandible Acroosteolysis-keloid-like lesionspremature aging syndrome Acrootoocular syndrome Acropectoral syndrome Acropectororenal dysplasia Acropectorovertebral dysplasia Acropigmentation of Dohi Acrorenal defect-ectodermal dysplasia-diabetes syndrome Acrorenal syndrome ACRP syndrome ACS ACS1 ACS3 ACS5 Actin myopathy Actinic lichen planus Actinic LP Actinic prurigo Actinic reticuloid Actinomycosis Action myoclonus-renal failure syndrome Activated PI3K-delta syndrome Activation-induced cytidine deaminase deficiency Acute ackee fruit intoxication

ORPHA Disease name number 95409 Acute adrenal failure 95409 Acute adrenal insufficiency 95409 Acute adrenocortical insufficiency 99870 284460 86849 225147 98837 2901 83597 83597 163703

363549 279888 318 243367 3243 293173 99920 90062 98916

363549

217371

217371

466794

370088

98916 98916 79276 79126 79126 73423 90062

Acute and disseminated Langerhans cell histiocytosis Acute annular outer retinopathy Acute basophilic leukemia Acute bilateral striatal necrosis Acute biphenotypic leukemia Acute brachial plexus neuritis Acute disseminated encephalitis Acute disseminated encephalomyelitis Acute encephalitis with refractory repetitive partial seizures Acute encephalopathy with biphasic seizures and late reduced diffusion Acute endophthalmitis Acute erythroid leukemia Acute fatty liver of pregnancy Acute febrile neutrophilic dermatosis Acute generalized exanthematous pustulosis Acute graft versus host disease Acute hepatic failure Acute idiopathic demyelinating polyneuropathy Acute infantile encephalopathy predominantly affecting the frontal lobes Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins Acute infantile liver failure due to synthesis defect of mtDNAencoded proteins Acute infantile liver failurecerebellar ataxia-peripheral sensory motor neuropathy syndrome Acute infantile liver failuremultisystemic involvement syndrome Acute inflammatory demyelinating polyradiculoneuropathy Acute inflammatory polyneuropathy Acute intermittent porphyria Acute interstitial pneumonia Acute interstitial pneumonitis Acute intoxication by Blighia sapida Acute liver failure



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ORPHA Disease name number 178320 Acute lung injury 488239 Acute macular neuroretinopathy 518 Acute megakaryoblastic leukemia 99887 329469 518 514 514 98917 98918 98917 98917 228157 228157 520 98833 98834 98834 98833 86843 86843 86845

102379

164726

102381 318 518 98831

98829

319480

402020

98832

Acute megakaryoblastic leukemia in Down syndrome Acute megakaryoblastic leukemia without Down syndrome Acute megakaryocytic leukemia Acute monoblastic leukemia Acute monocytic leukemia Acute motor and sensory axonal neuropathy Acute motor axonal neuropathy Acute motor-sensory axonal GBS Acute motor-sensory axonal Guillain-Barré syndrome Acute multiple sclerosis, Marburg type Acute multiple sclerosis, Marburg variant Acute myeloblastic leukemia 3 Acute myeloblastic leukemia M1 Acute myeloblastic leukemia M2 Acute myeloblastic leukemia with maturation Acute myeloblastic leukemia without maturation Acute myelodysplasia with myelofibrosis Acute myelofibrosis Acute myeloid leukaemia with myelodysplasia-related features Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Acute myeloid leukemia and myelodysplastic syndromes related to radiation Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Acute myeloid leukemia M6 Acute myeloid leukemia M7 Acute myeloid leukemia with 11q23 abnormalities Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Acute myeloid leukemia with CEBPA somatic mutations Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) Acute myeloid leukemia with minimal differentiation

ORPHA number 86845 402026 402014 370026 102724 402017

520 517 86843 263524 247546 247546 77260

163703 35889 231457 231457 231457 231457 86843 90064 43119 520 98918 98918 231450 231450 231450 454831 454831 140896 3099

90059

Disease name

Acute myeloid leukemia with multilineage dysplasia Acute myeloid leukemia with NPM1 somatic mutations Acute myeloid leukemia with t(6;9)(p23;q34) Acute myeloid leukemia with t(8;16)(p11;p13) translocation Acute myeloid leukemia with t(8;21)(q22;q22) translocation Acute myeloid leukemia with t(9;11)(p22;q23) Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants Acute myelomonocytic leukemia Acute myelosclerosis Acute necrotizing encephalopathy of childhood Acute neonatal citrullinemia type 1 Acute neonatal citrullinemia type I Acute neuronopathic Gaucher disease Acute non-herpetic encephalitis with severe refractory status epilepticus Acute opioid poisoning Acute panautonomic GBS Acute panautonomic GuillainBarré syndrome Acute panautonomic neuropathy Acute pandysautonomia Acute panmyelosis with myelofibrosis Acute peripheral arterial occlusion Acute poisoning by drugs with membrane-stabilizing effect Acute promyelocytic leukemia Acute pure motor GBS Acute pure motor Guillain-Barré syndrome Acute pure sensory GBS Acute pure sensory Guillain-Barré syndrome Acute pure sensory neuropathy Acute radiation sickness Acute radiation syndrome Acute respiratory coronavirus infection Acute rheumatic fever Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma

ORPHA Disease name number 231466 Acute sensory ataxic GBS 231466 231466 139417 43117 91500 98835 284454 137754 141 99901 100008 99736 99736 93608 428 314889 169189 1810 2314 447753 447757 277 435623 295118 295116 295114 973 216796 55881 55881 974 97346 88619 314404 90348 86814 85138 95409 2953 2952 2953 101046 83597

Acute sensory ataxic GuillainBarré syndrome Acute sensory ataxic neuropathy Acute transverse myelitis Acute tricyclic antidepressant poisoning Acute tubulointerstitial nephritis and uveitis syndrome Acute undifferentiated leukemia Acute zonal occult outer retinopathy ACY1D ACY2 deficiency Acyl-CoA dehydrogenase 9 deficiency ACys amyloidosis ACZ-responsive congenital myotonia ACZ-responsive myotonia AD dRTA AD hypocalcemia AD pRTA AD-CNM AD-HED AD-HIES AD-SPG9A AD-SPG9B ADA deficiency Adactyly of foot Adactyly of foot, bilateral Adactyly of foot, unilateral Adactyly of hand, bilateral Adactyly of hand, unilateral Adair-Dighton syndrome Adamantinoma Adamantinoma of long bones Adams-Oliver syndrome ADan amyloidosis ADANE ADCA-DN syndrome ADCL ADCME Addison disease Addisonian crisis Adducted thumb-clubfoot syndrome Adducted thumbs-arthrogryposis syndrome, Christian type Adducted thumbs-arthrogryposis syndrome, Dundar type ADEAF ADEM



9

ORPHA number 976 213504 424016 213772 99976 424991

424991

424943 424943 363478 398053 104075 104075 494454 95512 213828 213823 213741 93292 26790 213792 213600 45 28 91127 46 46 482601 137817 89937 454718 36397 36397 36397 289290 99027 101046 178464 98784

Disease name

Adenine phosphoribosyltransferase deficiency Adenocarcinoma of ovary Adenocarcinoma of the anal canal Adenocarcinoma of the cervix uteri Adenocarcinoma of the esophagus Adenocarcinoma of the gallbladder and EBT Adenocarcinoma of the gallbladder and extrahepatic biliary tract Adenocarcinoma of the liver and IBT Adenocarcinoma of the liver and intrahepatic biliary tract Adenocarcinoma of the paratestis Adenocarcinoma of the penis Adenocarcinoma of the small bowel Adenocarcinoma of the small instestine Adenocarcinoma of the vulva Adenohypophysitis Adenoid basal carcinoma of the cervix uteri Adenoid cystic carcinoma of the cervix uteri Adenoid cystic carcinoma of the corpus uteri Adenoma of the pancreas Adenomucinosis Adenosarcoma of the cervix uteri Adenosarcoma of the corpus uteri Adenosine monophosphate deaminase deficiency Adenosylcobalamin deficiency Adenovirus infection in immunocompromised patients Adenylosuccinase deficiency Adenylosuccinate lyase deficiency Adenylosuccinate synthetase-like 1-related distal myopathy Adhesive arachnoiditis ADHR Adie syndrome Adiposalgia Adipose tissue rheumatism Adiposis dolorosa ADK hypermethioninemia ADLD ADLTE ADMERF ADNFLE

ORPHA number 329211 ADNIV 404448 1544 306588 36355 2924 101046 254892 730 95409 869 1501 231625 95409 99889 139399 977 228169 46 482601 34149 88949 217330 88950 70578 70578 93605 157846 874 221 2666 309169 210159 874 210159 247676 2688 178487 178487 178487 178487 206448 79262

Disease name

ADNP-related multiple congenital anomalies-intellectual disabilityautism spectrum disorder Adolescent benign focal crisis ADOS ADP platelet receptor P2Y12 defect ADPCLD ADPEAF adPEO ADPKD Adrenal crisis Adrenal insufficiency-achalasiaalacrima syndrome Adrenocortical carcinoma Adrenocortical carcinoma with pure aldosterone hypersecretion Adrenocortical crisis Adrenocorticotropic hormone secretion syndrome Adrenomyeloneuropathy Adrenomyodystrophy ADSD ADSL deficiency ADSSL1-related distal myopathy ADTKD ADTKD-MUC1 ADTKD-REN ADTKD-UMOD Adult acute respiratory distress syndrome Adult ARDS Adult Bartter syndrome Adult basal ganglia disease Adult cardiac tumor Adult dermatomyositis Adult familial nephronophthisisspastic quadriparesia syndrome Adult GM2 gangliosidosis 0 variant Adult HCC Adult heart tumor Adult hepatocellular carcinoma Adult hypophosphatasia Adult idiopathic neutropenia Adult intestinal botulism Adult intestinal colonization botulism Adult intestinal toxemia botulism Adult intestinal toxin-mediated botulism Adult Krabbe disease Adult NCL

ORPHA number 79262 247676 206583 902 99874 98872 247676 773 978 86875 391490 79280 391490 99027 99027 284289 255132 420492

329336 247585 247573 247585 247573 247585 329336 411641 329478 199351 99000

99000

99000 79257 306431

Disease name

Adult neuronal ceroid lipofuscinosis Adult phosphoethanolaminuria Adult polyglucosan body disease Adult progeria Adult pulmonary Langerhans cell histiocytosis Adult pure red cell aplasia Adult Rathburn disease Adult Refsum disease ADULT syndrome Adult T-cell leukemia/lymphoma Adult-onset acquired myasthenia Adult-onset Alpha-Nacetylgalactosaminidase deficiency Adult-onset autoimmune myasthenia gravis Adult-onset autosomal dominant demyelinating leukodystrophy Adult-onset autosomal dominant leukodystrophy Adult-onset autosomal recessive cerebellar ataxia Adult-onset autosomal recessive sideroblastic anemia Adult-onset cervical dystonia, DYT23 type Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset citrin deficiency Adult-onset citrullinemia type 1 Adult-onset citrullinemia type 2 Adult-onset citrullinemia type I Adult-onset citrullinemia type II Adult-onset CPEO with mitochondrial myopathy Adult-onset cystinosis Adult-onset distal myopathy due to VCP mutation Adult-onset dystoniaparkinsonism Adult-onset foveomacular dystrophy Adult-onset foveomacular dystrophy with choroidal neovascularization Adult-onset foveomacular vitelliform dystrophy Adult-onset GM1 gangliosidosis Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies



10

ORPHA number

Disease name

Adult-onset leukoencephalopathy 313808 with axonal spheroids and

329314

329314 391490 171442 276608 206572 35689 35689 829 99000 3086 682 1071 281139 163703 363549 178345 37 220460 313772 93562 243367 1827 398147 139507 101334 3385 33110

83617 388 35704 353217 85448 180142 50 99114

pigmented glia Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency Adult-onset myasthenia gravis Adult-onset nemaline myopathy Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Adult-onset overlap myositis Adult-onset PLS Adult-onset primary lateral sclerosis Adult-onset Still disease Adult-onset vitelliform macular dystrophy ADVIRC Adynamia episodica hereditaria AEC syndrome AEI AERRPS AESD AEXS AEZ AFAP AFG3L2-related spastic ataxiamyoclonic epilepsy-neuropathy syndrome AFib amyloidosis AFLP AFND AFP African iron overload African tick typhus African trypanosomiasis Agammaglobulinemia, non-Bruton type Agammaglobulinemiamicrocephaly-craniosynostosissevere dermatitis syndrome Aganglionic megacolon AGAT deficiency AGC1 deficiency AGel amyloidosis Agenesis and aplasia of uterine body Agenesis of corpus callosum with chorioretinal abnormality Agenesis of the superior caval vein

ORPHA Disease name number 99114 Agenesis of the superior vena cava 99114 Agenesis of the SVC 293173 AGEP 873 86873

Aggressive fibromatosis Aggressive NK-cell leukemia 86873 Aggressive NK-cell lymphoma 98850 Aggressive systemic mastocytosis 989 Aglossia-adactylia syndrome Agnathia-holoprosencephaly-situs 990 inversus syndrome 824 Agnogenic myeloid metaplasia 100070 Agramatic variant of PPA Agramatic variant of primary 100070 progressive aphasia 442582 AH amyloidosis 2131 AHC AHDC1-related intellectual 412069 disability-obstructive sleep apneamild dysmorphism syndrome 59 AHDS 50812 Ahn-Lerman-Sagie syndrome 79443 AHO-PHP syndrome Ia 79445 AHO-PPHP syndrome 2134 aHUS 93581 aHUS with anti-factor H antibodies 93578 aHUS with B factor anomaly 93575 aHUS with C3 anomaly 357008 aHUS with DGKE deficiency 93579 aHUS with H factor anomaly 93580 aHUS with I factor anomaly 93576 aHUS with MCP/CD46 anomaly aHUS with thrombomodulin 217023 anomaly 250977 AICA-ribosiduria 50 Aicardi syndrome 51 Aicardi-Goutières syndrome 101089 AID deficiency 98916 AIDP 90081 AIDS wasting syndrome 178333 AIED 363549 AIEF 86886 AILT 103919 AIP 280302 AIP type 1 280315 AIP type 2 75564 AISA 33355 AK2 deficiency 38 AKE →357225 Akesson syndrome AKT2-related familial partial 79085 lipodystrophy 79085 AKT2-related FPLD 85443 AL amyloidosis 2232 Al Awadi-Farag-Teebi syndrome

ORPHA number

Disease name

Al Awadi-Raas-Rothschild syndrome Al Frayh-Facharzt-Haque →3157 syndrome 2725 Al Gazali-Al Talabani syndrome 2865 Al Gazali-Aziz-Salem syndrome 2153 Al Gazali-Donnai-Muller syndrome 2725 Al Gazali-Lytle syndrome 2773 Al Gazali-Nair syndrome →324737 Al-Gazali-Dattani syndrome Alacrimia-choreoathetosis-liver 404454 dysfunction syndrome 100924 ALAD porphyria 52 Alagille syndrome Alagille syndrome due to 20p12 261600 microdeletion Alagille syndrome due to a JAG1 261619 point mutation Alagille syndrome due to a 261629 NOTCH2 point mutation Alagille syndrome due to 261600 del(20)(p12) Alagille syndrome due to 261600 monosomy 20p12 52 Alagille-Watson syndrome Alagille-Watson syndrome due to 261619 a JAG1 point mutation Alagille-Watson syndrome due to 261629 a NOTCH2 point mutation Alagille-Watson syndrome due to 261600 monosomy 20p12 178333 Åland Islands eye disease Alar cartilages hypoplasia2007 coloboma-telecanthus syndrome 141242 Alar cleft 141242 Alar rim cleft 319671 Alazami syndrome 53 Albers-Schönberg osteopetrosis Albinism-black lock-cell migration disorder of the neurocytes of the →897 gut-sensorineural deafness syndrome 998 Albinism-deafness syndrome Albright hereditary →457059 osteodystrophy Albright hereditary 1001 osteodystrophy type 3 Albright hereditary 1001 osteodystrophy-like syndrome Albright hereditary 79443 osteodystrophy-PHP syndrome Ia Albright hereditary 79445 osteodystrophy-PPHP syndrome 98841 ALCL 60039 Alcock syndrome 2879



11

ORPHA Disease name number 1915 Alcohol-related birth defects 1915 36899 43 324977 35664 99763 99764

99764

369929

369929 85332 439224 158799 58 363717 363722 261112 79327 79326 79321 79320 79325 79328 280071 79324 324422 99995 300895 300895 364043 364043 300903 300903 300903 300895 364043 56 59 1164

Alcohol-related neurodevelopmental disorder Alcohol-responsive dystonia ALD ALDD syndrome ALDH18A1-related De Barsy syndrome Aldosterone synthase deficiency Aldosterone synthase deficiency unrelated to CYP11B2 Aldosterone synthase deficiency unrelated to the aldosterone synthase gene Aldosterone-producing adenoma with seizures and neurological abnormalities Aldosterone-secreting adenoma with seizures and neurological abnormalities Aldred syndrome ALECT2 amyloidosis Aleukemic mast cell leukemia Alexander disease Alexander disease type I Alexander disease type II Alfi syndrome ALG1-CDG ALG2-CDG ALG3-CDG ALG6-CDG ALG8-CDG ALG9-CDG ALG11-CDG ALG12-CDG ALG13-CDG Algodystrophy ALK+ ALCL ALK+ anaplastic large cell lymphoma ALK+ large B-cell lymphoma ALK+ LBCL ALK- ALCL ALK- anaplastic large cell lymphoma ALK-negative anaplastic large cell lymphoma ALK-positive anaplastic large cell lymphoma ALK-positive large B-cell lymphoma Alkaptonuria Allan-Herndon-Dudley syndrome Allergic aspergillosis

ORPHA number 1164 869 69063 93925 1006 700 701 2316

2316 1005 202

2574

1008 →3464 2850

1014

157954 202 726 726 726 734 734 134 721 98791 98791 365 308552 420429 60 79154 399058

Disease name

Allergic bronchopulmonary aspergillosis Allgrove syndrome Alloimmune neonatal renal disease Alobar holoprosencephaly Alopecia antibody deficiency Alopecia totalis Alopecia universalis Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome Alopecia-anosmia-deafnesshypogonadism syndrome Alopecia-contractures-dwarfismintellectual disability syndrome Alopecia-deafness-hypogonadism syndrome Alopecia-epilepsy-intellectual disability syndrome, Moynahan type Alopecia-epilepsy-pyorrheaintellectual disability syndrome Alopecia-hypogonadismextrapyramidal syndrome Alopecia-intellectual disability syndrome Alopecia-intellectual disabilityhypergonadotropic hypogonadism syndrome Alopecia-progressive neurological defect-endocrinopathy syndrome Alopecia-sensorineural deafnesshypogonadism syndrome Alpers progressive sclerosing poliodystrophy Alpers syndrome Alpers-Huttenlocher syndrome Alpha delta granule deficiency Alpha dense granule deficiency Alpha methylacetoacetic aciduria Alpha storage pool deficiency Alpha thalassemia-intellectual disability syndrome, deletion type Alpha thalassemia-mental retardation syndrome Alpha-1,4-glucosidase acid deficiency Alpha-1,4-glucosidase acid deficiency, infantile onset Alpha-1,4-glucosidase acid deficiency, late onset Alpha-1-antitrypsin deficiency Alpha-aminoadipic aciduria Alpha-B crystallin-related lateonset distal myopathy

ORPHA Disease name number 324 Alpha-galactosidase A deficiency 100025 Alpha-HCD 100025 Alpha-heavy chain disease

Alpha-ketoglutarate dehydrogenase deficiency 349 Alpha-L-fucosidase deficiency 579 Alpha-L-iduronidase deficiency 61 Alpha-mannosidosis 309288 Alpha-mannosidosis, adult form Alpha-mannosidosis, infantile 309282 form Alpha-methyl-acetoacetyl-CoA 134 thiolase deficiency Alpha-methyl-acyl-CoA racemase 79095 deficiency Alpha-N-acetylgalactosaminidase 3137 deficiency Alpha-N-acetylgalactosaminidase 79279 deficiency type 1 Alpha-N-acetylgalactosaminidase 79280 deficiency type 2 Alpha-N-acetylgalactosaminidase 79281 deficiency type 3 62 Alpha-sarcoglycanopathy 846 Alpha-thalassemia 163596 Alpha-thalassemia hydrops fetalis 93616 Alpha-thalassemia intermedia 163596 Alpha-thalassemia major Alpha-thalassemia-intellectual 98791 disability syndrome linked to chromosome 16 Alpha-thalassemia231401 myelodysplastic syndrome Alpha-thalassemia-X-linked 847 intellectual disability syndrome 63 Alport deafness-nephropathy 63 Alport syndrome Alport syndrome with leukocyte →182050 inclusions and macrothrombocytopenia Alport syndrome with →182050 macrothrombocytopenia Alport syndrome-intellectual 86818 disability-midface hypoplasiaelliptocytosis syndrome 3261 ALPS ALPS due to CTLA4 436159 haploinsuffiency ALPS with recurrent viral 275517 infections 803 ALS 357043 ALS4 86815 ALSG 313808 ALSP 64 Alström syndrome 31



12

ORPHA number 99971 ALT 2131 210122 210122 199306 284 99756 163699 163699 →1071

3354 306542 391474 228390 169095 93561 79095 98918 65 1021

→95699 1023 294969 295059 295057 294967 295055 295053 314422 314419 1946 88661 100031 100033 100032 100034 171836 1031 1028 83595 3386

Disease name

Alternating hemiplegia of childhood Alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of pulmonary vessels Alveolar cleft lip and palate Alveolar echinococcosis Alveolar rhabdomyosarcoma Alveolar soft-part sarcoma Alveolar soft-tissue sarcoma Alveolar synechiaankyloblepharon-ectodermal dysplasia syndrome Alves-dos Santos-Castelo syndrome ALX1-related frontonasal dysplasia ALX3-related frontonasal dysplasia ALX4-related FNDAG Alymphoid cystic thymic dysgenesis ALys amyloidosis AMACR deficiency AMAN Amaurosis congenita of Leber Amaurosis-hypertrichosis syndrome Ambiguous genitalia-disordered steroidogenesis Antley-Bixler-like syndrome Ambras syndrome Amelia of lower limb Amelia of lower limb, bilateral Amelia of lower limb, unilateral Amelia of upper limb Amelia of upper limb, bilateral Amelia of upper limb, unilateral Ameloblastic carcinoma Ameloblastoma Amelocerebrohypohidrotic syndrome Amelogenesis imperfecta Amelogenesis imperfecta type 1 Amelogenesis imperfecta type 2 Amelogenesis imperfecta type 3 Amelogenesis imperfecta type 4 Amelogenesis imperfecta-gingival hyperplasia syndrome Amelogenesis imperfectanephrocalcinosis syndrome Ameloonychohypohidrotic syndrome American mountain fever American trypanosomiasis

ORPHA Disease name number 2116 Aminoaciduria, Hartnup type 141 Aminoacylase 2 deficiency 1908 221120 1908 →33364 171714 99742 98902 518 102379

164726

102381 98832 98833 98834 520 517 514 318 518 98831 98829

319480 402020 86845 86845 402026 402014 370026 102724 402017 520 86818 86818 517 488239

Aminopterin embryopathy syndrome Aminopterin syndrome-like sine aminopterin Aminopterin/methotrexate embryofetopathy Amish brittle hair syndrome Amish infantile epilepsy syndrome Amish lethal microcephaly Amish nemaline myopathy AMKL AML and myelodysplastic syndromes related to alkylating agent AML and myelodysplastic syndromes related to radiation AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor AML M0 AML M1 AML M2 AML M3 AML M4 AML M5 AML M6 AML M7 AML with 11q23 abnormalities AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with CEBPA somatic mutations AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2) AML with multilineage dysplasia AML with myelodysplasia-related features AML with NPM1 somatic mutations AML with t(6;9)(p23;q34) AML with t(8;16)(p11;p13) translocation AML with t(8;21)(q22;q22) translocation AML with t(9;11)(p22;q23) AML with t(15;17)(q22;q12);(PML/RARalpha) and variants AMME complex AMME syndrome AMMoL AMNR

ORPHA number 251663 aMOA 67 68 45 1035 66529 300557 300557 163696 98917 366 49804 319635 319635 85450 367 488586 803 357043 94091 90020

90020

2615 228113 31150 761 251589 251646 251957 98841 251663 251630 142 251855 93347 79262 78 1496 37553 367 37553 37553 71 324

Disease name

Amoebiasis due to Entamoeba histolytica Amoebiasis due to free-living amoebae AMP deaminase deficiency Ampola syndrome Ampulla cardiomyopathy Ampullary carcinoma Ampulloma AMRF AMSAN Amylo-1,6-glucosidase deficiency Amyloid lichen Amyloidosis cutis dyschromia Amyloidosis cutis dyschromica Amyloidosis, Ostertag type Amylopectinosis Amyoplasia congenita Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis, hemiplegic type Amyotrophic lateral sclerosisparkinsonism-dementia complex Amyotrophic lateral sclerosisparkinsonism-dementia of Guam syndrome Amyotrophy-fat tissue anomaly syndrome Anal fistula Analphalipoproteinemia Anaphylactoid purpura Anaplastic astrocytoma Anaplastic ependymoma Anaplastic ganglioglioma Anaplastic large cell lymphoma Anaplastic oligoastrocytoma Anaplastic oligodendroglioma Anaplastic thyroid carcinoma Anaplastic/large cell medulloblastoma Anauxetic dysplasia ANCL Ancylostomiasis Andermann syndrome Andersen cardiodysrhythmic periodic paralysis Andersen disease Andersen syndrome Andersen-Tawil syndrome Anderson disease Anderson-Fabry disease



13

ORPHA Disease name number 99916 Androblastoma 329813 157954 263524 1054 95484 284984 480553 353344 63442 72 411511 411515 98794 98794

98795 251671 86879 79093 98839 160 160 86886 324 95429 2346 75508 263413 74 98839 370039 76 76 238468 98813

69088

→1071

Androgenetic/biparental mosaicism ANE syndrome ANEC Aneurysm of sinus of Valsalva Aneurysm or dilatation of ascending aorta Aneurysm-osteoarthritis syndrome Aneurysmal bone cyst Aneurysmal telangiectasia Angel-shaped phalangoepiphyseal dysplasia Angelman syndrome Angelman syndrome due to a point mutation Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to maternal monosomy 15q11q13 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angiocentric glioma Angiocentric T-cell lymphoma Angiodysgenetic necrotizing myelopathy Angioendotheliomatosis proliferans systemisata Angiofollicular ganglionic hyperplasia Angiofollicular lymph hyperplasia Angioimmunoblastic T-cell lymphoma Angiokeratoma corporis diffusum Angioma serpiginosum Angioosteohypertrophic syndrome Angioosteohypotrophic syndrome Angiosarcoma Angiostrongyliasis Angiotropic large cell lymphoma Angora hair nevus Anguilluliasis Anguillulosis Anhidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia with immunodeficiency Anhidrotic ectodermal dysplasiaimmunodeficiency-osteopetrosislymphedema syndrome Anhidrotic ectodermic dysplasiacleft lip/palate syndrome

ORPHA Disease name number 1069 Aniridia-absent patella syndrome 1065 1068

1067

1064 1070 86873 1072

1074

1071 2206 1077 78 254411 254411 281139 254424 254424 675 229 457205 99797 101932 99055 94150 69125 1094 90390

1487 1104 →2470

→3157

1101

Aniridia-cerebellar ataxiaintellectual disability syndrome Aniridia-intellectual disability syndrome Aniridia-ptosis-intellectual disability-familial obesity syndrome Aniridia-renal agenesispsychomotor retardation syndrome Anisakiasis ANKCL Ankyloblepharon filiforme adnatum-cleft palate syndrome Ankyloblepharon filiforme adnatum-imperforate anus syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankylosing vertebral hyperostosis with tylosis Ankylosis of teeth Ankylostomiasis Annular atrophic lichen planus Annular atrophic LP Annular epidermolytic ichthyosis Annular lichen planus Annular LP Annular pancreas Annuloaortic ectasia ANOAC Anodontia Anomaly of the mitral subvalvular apparatus Anomaly of the tricuspid valve chordae Anonychia congenita totalis Anonychia with flexural pigmentation Anonychia-microcephaly syndrome Anonychia-onychodystrophy syndrome Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome Anophthalmia plus syndrome Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome Anophthalmia-hypothalamopituitary insufficiency syndrome Anophthalmia-megalocorneacardiopathy-skeletal anomalies syndrome

ORPHA number 2470 1106 77298 1882 93976 2987 93604 294 294 70596 292 70596 293

178148 291 98956 3344 51890 1931 98961 98960 98961 98960 95512 435372 90079 36412 375 375 2194 206569 420789 420789 81 639 454710 206569

Disease name

Anophthalmia-pulmonary hypoplasia syndrome Anophthalmia-syndactyly syndrome Anophthalmia/microphthalmiaesophageal atresia syndrome ANOTHER syndrome Anotia Antecubital pterygium syndrome Antenatal Bartter syndrome Antenatal CMV infection Antenatal cytomegalovirus infection Antenatal EBV infection Antenatal enterovirus infection Antenatal Epstein-Barr virus infection Antenatal herpes simplex virus infection Antenatal multiminicore disease with arthrogryposis multiplex congenita Antenatal varicella virus infection Anterior basement membrane dystrophy Anterior bowing of legs with dwarfism Anterior cutaneous nerve entrapment syndrome Anterior encephalocele Anterior limiting membrane dystrophy type 1 Anterior limiting membrane dystrophy type 2 Anterior limiting membrane dystrophy type I Anterior limiting membrane dystrophy type II Anterior pituitary hypophysitis Anterior urethral valve Anthracycline extravasation Anti-C1q vasculitis Anti-GBM syndrome Anti-glomerular basement membrane disease Anti-HLA hyperimmunization Anti-HMG-CoA myopathy Anti-IgLON5 disease Anti-IgLON5 syndrome Anti-Jo1 syndrome Anti-MAG neuropathy Anti-p200 pemphigoid Anti-SRP myopathy



14

ORPHA number

Disease name

Antineutrophil cytoplasmic 97564 antibody-negative pauci-immune 2821 3006 81 83 →95699 →95699

→95699 1190 56304 56305 1168 64753 459033 99000 1190 56304 56305 1457 60030

1110 2299 →91387 95448 101043 99071 99070 3400 99086 974 829 280763 369929 747 206583 247806 247806 247806 247806 397596 3453

glomerulonephritis Antinolo-Nieto-Borrego syndrome Antiquitin deficiency Antisynthetase syndrome Antley-Bixler syndrome Antley-Bixler syndrome type 2 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Antley-Bixler syndrome, PORrelated AO1 AO2 AO3 AOA1 AOA2 AOA4 AOFMD AOI AOII AOIII Aorta coarctation Aortic aneurysm syndrome due to TGF-beta receptors anomalies Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Aortic arch interruption Aortic dilatation-joint hypermobility-arterial tortuosity syndrome Aortic valve atresia Aortic valve dysplasia Aorto-left ventricular tunnel Aorto-right ventricular tunnel Aorto-ventricular tunnel Aortopulmonary coronary arterial course AOS AOSD AP4 deficiency syndrome APA with seizures and neurological abnormalities aPAP APBD APC-related AFAP APC-related attenuated familial adenomatous polyposis APC-related attenuated familial polyposis coli APC-related attenuated FAP APDS APECED syndrome

ORPHA Disease name number 87 Apert syndrome 162521

1112

1113 49 324540

324540

324540 66529 324530 1114 3339 1116 370046 1117 86815 3329 2879 520 70590 99981 425 294986 295107 295105 93560 425 238269 439232 320 391723 100079 1201 1126 976 3453

Apertura pyriformis with holoprosencephaly Aphalangy-hemivertebraeurogenital-intestinal dysgenesis syndrome Aphalangy-syndactylymicrocephaly syndrome Aphallia Aphonia-deafness-retinal dystrophy-bifid hallucesintellectual disability syndrome Aphonia-deafness-retinal dystrophy-duplicated hallucesintellectual disability syndrome Aphonia-hearing loss-retinal dystrophy-duplicated hallucesintellectual disability syndrome Apical ballooning syndrome APLAID Aplasia cutis congenita Aplasia cutis congenita-epibulbar dermoids syndrome Aplasia cutis congenita-intestinal lymphangiectasia syndrome Aplasia cutis congenita-nevus sebaceus syndrome Aplasia cutis-myopia syndrome Aplasia of lacrimal and salivary glands Aplasia of tibia with splithand/split-foot deformity Aplasia/hypoplasia of limbs and pelvis APML Apnea of infancy Apnea of prematurity ApoA-I deficiency Apodia Apodia, bilateral Apodia, unilateral Apolipoprotein A-I amyloidosis Apolipoprotein A-I deficiency Apolipoprotein A-II amyloidosis Apolipoprotein A-IV amyloidosis Apparent mineralocorticoid excess Appendiceal mucinous adenocarcinoma Appendiceal neuroendocrine tumor Apple peel syndrome Aprosencephaly cerebellar dysgenesis APRT deficiency APS1

ORPHA number 3143 APS2 227982 APS3

Disease name

227990 APS4 3453 APS type 1 3143 APS type 2 227982 APS type 3 227990 APS type 4 101206 APV/ADA, Fallot type 99048 APV/PDA, non-Fallot type 498359 Aquagenic keratoderma

Aquagenic palmoplantar keratoderma Aquagenic syringeal 498359 acrokeratoderma 498359 Aquagenic wrinkling of the palms 402041 AR dRTA →402041 AR dRTA with deafness →402041 AR dRTA with hearing loss →402041 AR dRTA without deafness →402041 AR dRTA without hearing loss 93607 AR pRTA 90119 AR-CMT2 with acrodystrophy 90118 AR-CMT2, Ouvrier type 98856 AR-CMT2B1 101101 AR-CMT2B2 228374 AR-CMT2B5 101102 AR-CMT2C 495274 AR-CMT2T 169186 AR-CNM 248 AR-HED 88616 AR-NSID 731 AR-PKD 447760 AR-SPG9B Arachnodactyly-abnormal 1129 ossification-intellectual disability syndrome Arachnodactyly-intellectual 1130 disability-dysmorphism syndrome 2356 Arachnoid cyst 137817 Arachnoiditis 324442 ARAN-NM 1915 ARBD 2697 ARC syndrome 88644 ARCA1 139485 ARCA2 90349 ARCL1 221145 ARCL1C 357074 ARCL2, classic type 357074 ARCL2, Debré type 357064 ARCL2, progeroid type 357058 ARCL2A 357064 ARCL2B 324442 ARCMT2-NM 101097 ARCMT2K 498359



15

ORPHA Disease name number 466775 ARCMT2X 1133 AREDYLD syndrome 101096 Aregenerative anemia →702 Arena syndrome 75377 Areolar atrophy of the macula 319223 Argentine hemorrhagic fever 319223 Argentinian hemorrhagic fever 90 90 23 247525 247525 23 23 247525 247525 23 60014 289176 79235 2318 950 85276 1915 167635 268882 1136 268882 1136 91 178345 35708 254886 99916 1135 260305 98 314603 583 357107 357107 1682 357107 357107 357107

Arginase deficiency Argininemia Argininosuccinase deficiency Argininosuccinate synthase deficiency Argininosuccinate synthetase deficiency Argininosuccinatelyase deficiency Argininosuccinic acid lyase deficiency Argininosuccinic acid synthase deficiency Argininosuccinic acid synthetase deficiency Argininosuccinic aciduria Argyria ARHR Arias syndrome Arima syndrome Arkless-Graham syndrome Armfield syndrome ARND Arndt-Gottron disease Arnold-Chiari malformation type 1 Arnold-Chiari malformation type 2 Arnold-Chiari malformation type I Arnold-Chiari malformation type II Aromatase deficiency Aromatase excess syndrome Aromatic L-amino acid decarboxylase deficiency arPEO Arrhenoblastoma Arrhinia-choanal atresiamicrophthalmia syndrome ARSA ARSACS ARSAL ARSB deficiency Arterial cervical rib syndrome Arterial costoclavicular syndrome Arterial dissection-lentiginosis syndrome Arterial hyperabduction syndrome Arterial scalenus anticus syndrome Arterial thoracic outlet compression syndrome

ORPHA Disease name number 357107 Arterial thoracic outlet syndrome 3342 Arterial tortuosity syndrome 357107 Arterial TOS 52 261619 261629 261600 29207 955 994

1150

3200

1485 1144 1149 1154

2697 65720 2848 1187 512 309271 309263 309256 583 276212 276223 81 23 231466 583 2302 2302 1253 447997

Arteriohepatic dysplasia Arteriohepatic dysplasia due to a JAG1 point mutation Arteriohepatic dysplasia due to a NOTCH2 point mutation Arteriohepatic dysplasia due to monosomy 20p12 Arthritis urethritica Arthrodentoosteodysplasia Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome Arthrogryposis multiplex congenita-whistling face syndrome Arthrogryposis-ectodermal dysplasia-other anomalies syndrome Arthrogryposis-hyperkeratosis syndrome, lethal form Arthrogryposis-like hand anomalysensorineural deafness syndrome Arthrogryposis-like syndrome Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Arthrogryposis-renal dysfunctioncholestasis syndrome Arthrogryposis-severe scoliosis syndrome Arthropathy-camptodactyly syndrome Arts syndrome Arylsulfatase A deficiency Arylsulfatase A deficiency, adult form Arylsulfatase A deficiency, juvenile form Arylsulfatase A deficiency, late infantile form Arylsulfatase B deficiency Arylsulfatase B deficiency, rapidly progressing Arylsulfatase B deficiency, slowly progressing AS syndrome ASA deficiency ASAN ASB deficiency Asbestos intoxication Asbestosis Ascher syndrome ASCT1 deficiency

ORPHA Disease name number 1478 ASD 352490 ASD due to AUTS2 deficiency 99104 ASD, coronary sinus type 99106 99103 99105 54251 97337 3314 2380 97336 97332 2054 97335 57194 54251 137686 276198 23 391376 141 93 93 63442 1163 474 163699 247525 221120 85175 251679 647 96 3008 3008 94147 96 1188 137639 1227 1188

ASD, ostium primum type ASD, ostium secundum type ASD, sinus venosus type Aseptic abscesses syndrome Aseptic necrosis of patella Aseptic necrosis of phalangeal epiphyses Aseptic necrosis of the capital femoral epiphysis Aseptic necrosis of the capital humerus Aseptic necrosis of the lunate bone Aseptic necrosis of the tarsal bone Aseptic necrosis of the tibial tubercle Aseptic osteitis Aseptic systemic abscesses Asherman syndrome Asidan ASL deficiency Asparagine synthetase deficiency Aspartoacylase deficiency Aspartylglucosaminidase deficiency Aspartylglucosaminuria ASPED Aspergillosis Asphyxiating thoracic dystrophy of the newborn ASPS ASS deficiency ASSA Astley-Kendall dysplasia Astroblastoma AT V1 Ataxia with isolated vitamin E deficiency Ataxia with lactic acidosis type 2 Ataxia with lactic acidosis type II Ataxia with pigmentary retinopathy Ataxia with vitamin E deficiency Ataxia-deafness-intellectual disability syndrome Ataxia-delayed dentitionhypomyelination syndrome Ataxia-diabetes-goiter-gonadal insufficiency syndrome Ataxia-hearing loss-intellectual disability syndrome



16

ORPHA number 1180

370022 1168 64753 459033 2585 1184 1178 100 370109 647 251347 352403 1183 2953 1190 56304 56305 1190 56304 56305 69739 69739

1192 95713 1226 250977 1193 99666 251347 86875 139423 231401 163934 357107 139557 31150 98791 98791 98791 847

Disease name

Ataxia-hypogonadism-choroidal dystrophy syndrome Ataxia-intellectual disabilityoculomotor apraxia-cerebellar cysts syndrome Ataxia-oculomotor apraxia type 1 Ataxia-oculomotor apraxia type 2 Ataxia-oculomotor apraxia type 4 Ataxia-pancytopenia syndrome Ataxia-photosensitivity-short stature syndrome Ataxia-tapetoretinal degeneration syndrome Ataxia-telangiectasia Ataxia-telangiectasia variant Ataxia-telangiectasia, variant 1 Ataxia-telangiectasia-like disorder Ataxie spinocérébelleuse à début infantile avec retard psychomoteur Ataxo-opso-myoclonus syndrome ATCS Atelosteogenesis type 1 Atelosteogenesis type 2 Atelosteogenesis type 3 Atelosteogenesis type I Atelosteogenesis type II Atelosteogenesis type III Athabascan brainstem dysgenesis syndrome Athabaskan brainstem dysgenesis syndrome Atherosclerosis-deafnessdiabetes-epilepsy-nephropathy syndrome Athyreosis Athyroidal hypothyroidism-spiky hair-cleft palate syndrome ATIC deficiency Atkin-Flaitz syndrome Atlantoaxial subluxation ATLD ATLL ATM/TM ATMDS Atopic keratoconjunctivitis ATOS ATP7A-related distal motor neuropathy ATP-binding cassette transporter A1 deficiency ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome ATR-X syndrome

ORPHA Disease name number 1201 Atresia of small intestine 105 Atresia of urethra 1344 99107 1478 99104 99106 99103 99105

1479 1344 844 86819 392 1350 1342 168796

1352 86813 649 254449 254449 79100 99966 71289 3342 86818 352723 220460 220460 220460 85451 85451 85451 85447 85447 330001 330001 199627 352723 251902

Atrial cardiomyopathy with heart block Atrial septal aneurysm Atrial septal defect Atrial septal defect, coronary sinus type Atrial septal defect, ostium primum type Atrial septal defect, ostium secundum type Atrial septal defect, sinus venosus type Atrial septal defectatrioventricular conduction defects syndrome Atrial standstill Atrial tachyarrhythmia with short PR interval Atrichia with papular lesions Atriodigital dysplasia type 1 Atriodigital dysplasia type 2 Atriodigital dysplasia type 3 Atriodigital dysplasia, Slovenian type Atrioventricular defectblepharophimosis-radial and anal defect syndrome Atrophia areata Atrophia bulborum hereditaria Atrophic lichen planus Atrophic LP Atrophoderma vermiculata ATRT ATRUS syndrome ATS ATS-MR Attenuated Chédiak-Higashi syndrome Attenuated familial adenomatous polyposis Attenuated familial polyposis coli Attenuated FAP ATTR cardiomyopathy ATTRV122I amyloidosis ATTRV122I-related amyloidosis ATTRV30M amyloidosis ATTRV30M-related amyloidosis ATTRwt amyloidosis ATTRwt-related amyloidosis Atypical autism Atypical Chédiak-Higashi syndrome Atypical choroid plexus papilloma

ORPHA Disease name number 98824 Atypical chronic myeloid leukemia 1456 Atypical coarctation of aorta 251902 Atypical CPP 314466 Atypical Demons-Meigs syndrome 314721 398147 309252 289863 98961 238523 2134

93581

93578 93575 357008 93579 93580

93576

217023 2134 93581 93578 93575 357008 93579 93580 93576 217023 238523 391411 86797 99971 99971 314466

Atypical dentin dysplasia due to SMOC2 deficiency Atypical facial pain Atypical Gaucher disease due to saposin C deficiency Atypical glycine encephalopathy Atypical granular corneal dystrophy Atypical HCS Atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome with anti-factor H antibodies Atypical hemolytic-uremic syndrome with B factor anomaly Atypical hemolytic-uremic syndrome with C3 anomaly Atypical hemolytic-uremic syndrome with DGKE deficiency Atypical hemolytic-uremic syndrome with H factor anomaly Atypical hemolytic-uremic syndrome with I factor anomaly Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly Atypical hemolytic-uremic syndrome with thrombomodulin anomaly Atypical HUS Atypical HUS with anti-factor H antibodies Atypical HUS with B factor anomaly Atypical HUS with C3 anomaly Atypical HUS with DGKE deficiency Atypical HUS with H factor anomaly Atypical HUS with I factor anomaly Atypical HUS with MCP/CD46 anomaly Atypical HUS with thrombomodulin anomaly Atypical hypotonia-cystinuria syndrome Atypical juvenile parkinsonism Atypical lichen myxedematosus Atypical lipoma Atypical lipomatous tumor Atypical Meigs syndrome



17

ORPHA Disease name number 2578 Atypical MRKH syndrome 289863 Atypical NKA 289863 261501 261501 261501 216873 251902 79474 99750 99750 3095 3095 99966 90393 79474 16 453504 166415 1074 1488 →794 77300 137888 114 →794 1995 352490 370943

308410

137911 324636 85138 85138

Atypical non-ketotic hyperglycinemia Atypical Norrie disease due to del(X)(p11.3) Atypical Norrie disease due to monosomy Xp11.3 Atypical Norrie disease due to Xp11.3 microdeletion Atypical pantothenate kinaseassociated neurodegeneration Atypical papilloma of choroid plexus Atypical progeroid syndrome Atypical progressive supranuclear palsy syndrome Atypical PSP syndrome Atypical Rett syndrome Atypical RTT Atypical teratoid rhabdoid tumor Atypical tuberous myxedema of Jadassohn-Dosseker Atypical Werner syndrome Atypical X-linked achromatopsia Au-Kline syndrome Audiogenic seizures Aughton-Hufnagle syndrome Aural atresia-multiple congenital anomalies-intellectual disability syndrome Auralcephalosyndactyly Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome Auriculocondylar syndrome Auriculoosteodysplasia Aurocephalosyndactyly Ausems-Wittebol Post-Hennekam syndrome Autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorderepilepsy-arthrogryposis syndrome Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Autism-facial port-wine stain syndrome Autoerythrocyte sensitization syndrome Autoimmune Addison disease Autoimmune adrenalitis

ORPHA number

Disease name

ORPHA number

Autoimmune encephalopathy 420789 with parasomnia and obstructive

391487 37042 103916 103917 1959

90033

444463

2137 36913 3453

444092 3261

436159

275517 589 206569 103919 280302 280315 747 3453 3143 227982 227990 3453 3143 227982 227990

sleep apnea Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Autoimmune enteropathy type 1 Autoimmune enteropathy type 2 Autoimmune enteropathy type 3 Autoimmune hemolytic anemia and autoimmune thrombocytopenia Autoimmune hemolytic anemia, warm type Autoimmune hemolytic anemiaautoimmune thrombocytopeniaprimary immunodeficiency syndrome Autoimmune hepatitis Autoimmune hypoparathyroidism Autoimmune hypoparathyroidismchronic candidiasis-Addison disease syndrome Autoimmune interstitial lung disease-arthritis syndrome Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Autoimmune lymphoproliferative syndrome with recurrent viral infections Autoimmune myasthenia gravis Autoimmune necrotizing myositis Autoimmune pancreatitis Autoimmune pancreatitis type 1 Autoimmune pancreatitis type 2 Autoimmune PAP Autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrine syndrome type 2 Autoimmune polyendocrine syndrome type 3 Autoimmune polyendocrine syndrome type 4 Autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 2 Autoimmune polyendocrinopathy type 3 Autoimmune polyendocrinopathy type 4

3453

3453 3143 227982 227990 747 93585

3143

324977

324530

210115

329173 33110 209335 209335 88918 1810 314399 314399 1216 314652 93304 169189

314404

487814

Disease name

Autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy syndrome Autoimmune polyglandular syndrome type 1 Autoimmune polyglandular syndrome type 2 Autoimmune polyglandular syndrome type 3 Autoimmune polyglandular syndrome type 4 Autoimmune pulmonary alveolar proteinosis Autoimmune thrombotic thrombocytopenic purpura Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome Autoinflammation-lipodystrophydermatosis syndrome Autoinflammation-PLCG2associated antibody deficiencyimmune dysregulation Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autosomal agammaglobulinemia Autosomal dominant adult-onset proximal SMA Autosomal dominant adult-onset proximal spinal muscular atrophy Autosomal dominant Alport syndrome Autosomal dominant anhidrotic ectodermal dysplasia Autosomal dominant aplasia and myelodysplasia Autosomal dominant aplastic anemia and myelodysplasia Autosomal dominant benign distal spinal muscular atrophy Autosomal dominant beta2microglobulinic amyloidosis Autosomal dominant brachyolmia Autosomal dominant centronuclear myopathy Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Autosomal dominant CharcotMarie-Tooth disease type 2 due to DGAT2 mutation



18

ORPHA number

Disease name

Autosomal dominant Charcot488333 Marie-Tooth disease type 2 due to

324611

397735

466768

447964

435819

435387

401964

99946 99947 99936 99937 99938 99939 99940 99941 99942 99943 99944 99945 228179 228174 284232 329258

HARS mutation Autosomal dominant CharcotMarie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant CharcotMarie-Tooth disease type 2 due to MARS mutation Autosomal dominant CharcotMarie-Tooth disease type 2 due to MORC2 mutation Autosomal dominant CharcotMarie-Tooth disease type 2 due to NAGLU mutation Autosomal dominant CharcotMarie-Tooth disease type 2 due to TFG mutation Autosomal dominant CharcotMarie-Tooth disease type 2 due to VCP mutation Autosomal dominant CharcotMarie-Tooth disease type 2 with giant axons Autosomal dominant CharcotMarie-Tooth disease type 2A1 Autosomal dominant CharcotMarie-Tooth disease type 2A2 Autosomal dominant CharcotMarie-Tooth disease type 2B Autosomal dominant CharcotMarie-Tooth disease type 2C Autosomal dominant CharcotMarie-Tooth disease type 2D Autosomal dominant CharcotMarie-Tooth disease type 2E Autosomal dominant CharcotMarie-Tooth disease type 2F Autosomal dominant CharcotMarie-Tooth disease type 2G Autosomal dominant CharcotMarie-Tooth disease type 2I Autosomal dominant CharcotMarie-Tooth disease type 2J Autosomal dominant CharcotMarie-Tooth disease type 2K Autosomal dominant CharcotMarie-Tooth disease type 2L Autosomal dominant CharcotMarie-Tooth disease type 2M Autosomal dominant CharcotMarie-Tooth disease type 2N Autosomal dominant CharcotMarie-Tooth disease type 2O Autosomal dominant CharcotMarie-Tooth disease type 2Q

ORPHA number 397735 447964 488333 435387 466768 98975 363447

363454

209341

79344

→2526

1455 447753 447757 1216 98975 86814 90348 75381 79499

2337

476093

139518

93608 98808

Disease name

Autosomal dominant CharcotMarie-Tooth disease type 2U Autosomal dominant CharcotMarie-Tooth disease type 2V Autosomal dominant CharcotMarie-Tooth disease type 2W Autosomal dominant CharcotMarie-Tooth disease type 2Y Autosomal dominant CharcotMarie-Tooth disease type 2Z Autosomal dominant CHED Autosomal dominant childhoodonset proximal spinal muscular atrophy Autosomal dominant childhoodonset proximal spinal muscular atrophy with contractures Autosomal dominant childhoodonset proximal spinal muscular atrophy without contractures Autosomal dominant chondrodysplasia punctata Autosomal dominant chorioretinopathy-microcephaly syndrome Autosomal dominant coarctation of aorta Autosomal dominant complex spastic paraplegia type 9A Autosomal dominant complex spastic paraplegia type 9B Autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant congenital hereditary endothelial dystrophy Autosomal dominant cortical myoclonus and epilepsy Autosomal dominant cutis laxa Autosomal dominant cystoid macular edema Autosomal dominant deafnessonychodystrophy syndrome Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Autosomal dominant distal juvenile spinal muscular atrophy type 1 Autosomal dominant distal renal tubular acidosis Autosomal dominant doparesponsive dystonia

ORPHA number

Disease name

Autosomal dominant dystrophic →231568 epidermolysis bullosa, Cockayne-

Touraine type Autosomal dominant dystrophic 231568 epidermolysis bullosa, Pasini and Cockayne-Touraine types Autosomal dominant dystrophic →231568 epidermolysis bullosa, Pasini type Autosomal dominant ectodermal 300576 dysplasia-cancer predisposition syndrome Autosomal dominant Emery98853 Dreifuss muscular dystrophy Autosomal dominant epilepsy 101046 with auditory features Autosomal dominant familial 73229 hematuria-retinal arteriolar tortuosity-contractures syndrome Autosomal dominant familial 100988 spastic paraplegia type 3 Autosomal dominant focal 329466 dystonia, DYT25 type Autosomal dominant focal nonepidermolytic palmoplantar 402003 keratoderma with plantar blistering Autosomal dominant gingival 2024 fibromatosis Autosomal dominant gingival 2024 hyperplasia Autosomal dominant hereditary 139491 hemochromatosis Autosomal dominant hereditary 401964 motor and sensory neuropathy type 2 with giant axons 2314 Autosomal dominant HIES Autosomal dominant hyper-IgE 2314 syndrome Autosomal dominant 2314 hyperimmunoglobulin E syndrome Autosomal dominant 276580 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Autosomal dominant 276575 hyperinsulinemic hypoglycemia due to SUR1 deficiency Autosomal dominant 276580 hyperinsulinism due to Kir6.2 deficiency Autosomal dominant 276575 hyperinsulinism due to SUR1 deficiency Autosomal dominant 428 hypocalcemia Autosomal dominant hypohidrotic 1810 ectodermal dysplasia



19

ORPHA number 89937 89937

457193

100043

100044

100045

100046

93114

352670

324585

90635

90635

90635

90635

93325 2334 293936

503 411602 67042

209335

101046

Disease name

Autosomal dominant hypophosphatemia Autosomal dominant hypophosphatemic rickets Autosomal dominant intellectual disability-craniofacial anomaliescardiac defects syndrome Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Autosomal dominant isolated neurosensory deafness type DFNA Autosomal dominant isolated neurosensory hearing loss type DFNA Autosomal dominant isolated sensorineural deafness type DFNA Autosomal dominant isolated sensorineural hearing loss type DFNA Autosomal dominant KennyCaffey syndrome Autosomal dominant keratitis Autosomal dominant keratoconus with early-onset anterior polar cataracts Autosomal dominant Larsen syndrome Autosomal dominant late-onset Parkinson disease Autosomal dominant late-onset retinal degeneration Autosomal dominant late-onset spinal muscular atrophy, Finkel type Autosomal dominant lateral temporal lobe epilepsy

ORPHA number

Disease name

Autosomal dominant 313808 leukoencephalopathy with 266 264 265 34516 34517 55595 55596 238755 140957 34149 88950

319581

319589

319581

319589

457050

319581 319589

319581

319589

65743

neuroaxonal spheroids Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1D Autosomal dominant limb-girdle muscular dystrophy type 1E Autosomal dominant limb-girdle muscular dystrophy type 1F Autosomal dominant limb-girdle muscular dystrophy type 1G Autosomal dominant limb-girdle muscular dystrophy type 1H Autosomal dominant macrothrombocytopenia Autosomal dominant medullary cystic kidney disease Autosomal dominant medullary cystic kidney disease type 2 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency Autosomal dominant mitochondrial myopathy with exercise intolerance Autosomal dominant MSMD due to partial IFNgammaR1 deficiency Autosomal dominant MSMD due to partial IFNgammaR2 deficiency Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency Autosomal dominant multiple pterygium syndrome

ORPHA number 99846

440354

79153 329211 98784 178469

90635

90635

90635

90635

93328 306588 306588 306588 67036 →1215 250932 1215 67036 98673 98673 2783 1798 2790

Disease name

Autosomal dominant myoglobinuria Autosomal dominant myopiamidfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome Autosomal dominant nail dysplasia Autosomal dominant neovascular inflammatory vitreoretinopathy Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nonsyndromic intellectual disability Autosomal dominant nonsyndromic neurosensory deafness type DFNA Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA Autosomal dominant nonsyndromic sensorineural deafness type DFNA Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA Autosomal dominant omodysplasia Autosomal dominant Opitz BBB/G syndrome Autosomal dominant Opitz G/BBB syndrome Autosomal dominant Opitz syndrome Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and congenital deafness Autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy type 3 Autosomal dominant optic atrophy, classic form Autosomal dominant optic atrophy, Kjer type Autosomal dominant osteopetrosis type 1 Autosomal dominant osteosclerosis, Stanescu type Autosomal dominant osteosclerosis, Worth type



20

ORPHA number 1010

1010

730

88924

2924 1300

476119

34528

2514 2964 254892 88659 314889 171871

209867

3107 247511 247511 98808 486 140481 251282 1182 100984 100985

Disease name

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia Autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant polycystic liver disease Autosomal dominant popliteal pterygium syndrome Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome Autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant primary microcephaly Autosomal dominant prognathism Autosomal dominant progressive external ophthalmoplegia Autosomal dominant progressive nephropathy with hypertension Autosomal dominant proximal renal tubular acidosis Autosomal dominant pseudohypoaldosteronism type 1 Autosomal dominant rhegmatogenous retinal detachment Autosomal dominant Robinow syndrome Autosomal dominant secondary erythrocytosis Autosomal dominant secondary polycythemia Autosomal dominant Segawa syndrome Autosomal dominant severe congenital neutropenia Autosomal dominant slowed nerve conduction velocity Autosomal dominant spastic ataxia type 1 Autosomal dominant spastic ataxia type 7 Autosomal dominant spastic paraplegia type 3 Autosomal dominant spastic paraplegia type 4

ORPHA number 100988 100989 100990 100991 100993 100994 100998 100999 101009 101011 320365 171612 171617 320355 171863 444099 1797 1797 228169

466806

3357

34149 3086 79278 88919 1027 248 1116

Disease name

Autosomal dominant spastic paraplegia type 6 Autosomal dominant spastic paraplegia type 8 Autosomal dominant spastic paraplegia type 9 Autosomal dominant spastic paraplegia type 10 Autosomal dominant spastic paraplegia type 12 Autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 19 Autosomal dominant spastic paraplegia type 29 Autosomal dominant spastic paraplegia type 31 Autosomal dominant spastic paraplegia type 36 Autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 38 Autosomal dominant spastic paraplegia type 41 Autosomal dominant spastic paraplegia type 42 Autosomal dominant spastic paraplegia type 73 Autosomal dominant spondylocostal dysostosis Autosomal dominant spondylocostal dysplasia Autosomal dominant striatal neurodegeneration Autosomal dominant thrombocytopenia with platelet secretion defect Autosomal dominant trichoodontoonychodysplasiasyndactyly Autosomal dominant tubulointerstitial kidney disease Autosomal dominant vitreoretinochoroidopathy Autosomal erythropoietic protoporphyria Autosomal recessive Alport syndrome Autosomal recessive amelia Autosomal recessive anhidrotic ectodermal dysplasia Autosomal recessive aplasia cutis

ORPHA number 139485 247815 139485 88644

101101

101097

495274

90119

98856 101102 101101 101097 324442 139455 448242 →3460 169186 453521 352641 412057 88644 139485 352641

404499

Disease name

Autosomal recessive ataxia due to coenzyme Q10 deficiency Autosomal recessive ataxia due to PEX10 deficiency Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive ataxia, Beauce type Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy Autosomal recessive axonal CMT4C1 Autosomal recessive axonal CMT4C2 Autosomal recessive axonal CMT4C3 Autosomal recessive axonal CMT4C4 Autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive bestrophinopathy Autosomal recessive brachyolmia Autosomal recessive carpotarsal osteolysis Autosomal recessive centronuclear myopathy Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Autosomal recessive cerebellar ataxia due to GBA2 deficiency Autosomal recessive cerebellar ataxia due to STUB1 deficiency Autosomal recessive cerebellar ataxia type 1 Autosomal recessive cerebellar ataxia type 2 Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency



21

ORPHA number

404493

284282

284271

363429

95434

1170

363969 466775

466775

324442

98856 228374

101097

90118

90119 293603 2518

447760

363432

363432

Disease name

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Autosomal recessive cerebellar ataxia-psychomotor retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmusoculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome Autosomal recessive cerebelloparenchymal disorder type 3 Autosomal recessive cerebral atrophy Autosomal recessive Charcot Marie Tooth disease type 2X Autosomal recessive CharcotMarie-Tooth disease type 2 due to SPG11 mutation Autosomal recessive CharcotMarie-Tooth disease type 2 with neuromyotonia Autosomal recessive CharcotMarie-Tooth disease type 2B1 Autosomal recessive CharcotMarie-Tooth disease type 2B5 Autosomal recessive CharcotMarie-Tooth disease with hoarseness Autosomal recessive CharcotMarie-Tooth disease, Ouvrier type Autosomal recessive CharcotMarie-Tooth type 2 with acrodystrophy Autosomal recessive CHED Autosomal recessive chorioretinopathy-microcephaly syndrome Autosomal recessive complex spastic paraplegia type 9B Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency

ORPHA number

Disease name

Autosomal recessive congenital cerebellar ataxia due to 324262 metabotropic glutamate receptor 1 deficiency Autosomal recessive congenital 324262 cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital 293603 hereditary endothelial dystrophy Autosomal recessive congenital 99951 hypomyelinating neuropathy Autosomal recessive cutis laxa 90349 type 1 Autosomal recessive cutis laxa 221145 type 1C Autosomal recessive cutis laxa 357074 type 2, classic type Autosomal recessive cutis laxa 357074 type 2, Debré type Autosomal recessive cutis laxa 357064 type 2, progeroid type Autosomal recessive cutis laxa 357058 type 2A Autosomal recessive cutis laxa 357064 type 2B Autosomal recessive cutis laxa 90349 with severe systemic involvement Autosomal recessive cutis laxa, 90349 pulmonary emphysema type Autosomal recessive deafness79500 onychodystrophy syndrome Autosomal recessive distal 2776 osteolysis syndrome Autosomal recessive distal renal 402041 tubular acidosis Autosomal recessive distal renal →402041 tubular acidosis with deafness Autosomal recessive distal renal →402041 tubular acidosis with hearing loss Autosomal recessive distal renal →402041 tubular acidosis without deafness Autosomal recessive distal renal →402041 tubular acidosis without hearing loss 402041 Autosomal recessive distal RTA Autosomal recessive distal RTA →402041 with deafness Autosomal recessive distal spinal 98920 muscular atrophy type 1 Autosomal recessive distal spinal 139552 muscular atrophy type 2 Autosomal recessive distal spinal 139547 muscular atrophy type 3 Autosomal recessive distal spinal 206580 muscular atrophy type 4


79408

89842

89842

79408

98855 289586 1974 329329 331226

79644

79643

79644

79643

248 289176 300547 93591 93591

352530

217055

254334

Disease name

Autosomal recessive distal spinal muscular atrophy type 5 Autosomal recessive doparesponsive dystonia Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis Autosomal recessive dystrophic epidermolysis bullosa, generalized other Autosomal recessive dystrophic epidermolysis bullosa, HallopeauSiemens type Autosomal recessive EmeryDreifuss muscular dystrophy Autosomal recessive exfoliative ichthyosis Autosomal recessive faciodigitogenital syndrome Autosomal recessive frontotemporal pachygyria Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal recessive hyperinsulinism due to SUR1 deficiency Autosomal recessive hypohidrotic ectodermal dysplasia Autosomal recessive hypophosphatemic rickets Autosomal recessive infantile hypercalcemia Autosomal recessive infantile nephronophthisis Autosomal recessive infantile NPHP Autosomal recessive intellectual disability due to TRAPPC9 deficiency Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Autosomal recessive intermediate Charcot-Marie-Tooth disease type B



22

ORPHA number

Disease name

Autosomal recessive intermediate 369867 Charcot-Marie-Tooth disease type

435998

210110 90636 98676 90636 93324

1842

33108

314572

363543

352479

254361

267 268 353 62 119 219 34514 1878 34515 140922 86812

C Autosomal recessive intermediate Charcot-Marie-Tooth disease type D Autosomal recessive intermediate osteopetrosis Autosomal recessive isolated neurosensory deafness type DFNB Autosomal recessive isolated optic atrophy Autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive Kenny-Caffey syndrome Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type Autosomal recessive lethal multiple pterygium syndrome Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2C Autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2H Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2K

ORPHA number 206549 206554 206559 206564 280333 254361 363543 369840 363623 352479 466801 476084 424261 480682

476084

206580

238505 667

477857

319569

319574

319569

Disease name

Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2M Autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2P Autosomal recessive limb-girdle muscular dystrophy type 2Q Autosomal recessive limb-girdle muscular dystrophy type 2R Autosomal recessive limb-girdle muscular dystrophy type 2S Autosomal recessive limb-girdle muscular dystrophy type 2T Autosomal recessive limb-girdle muscular dystrophy type 2U Autosomal recessive limb-girdle muscular dystrophy type 2W Autosomal recessive limb-girdle muscular dystrophy type 2X Autosomal recessive limb-girdle muscular dystrophy type 2Y Autosomal recessive limb-girdle muscular dystrophy type 2Z Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome Autosomal recessive lower motor neuron disease with childhood onset Autosomal recessive lymphoproliferative disease Autosomal recessive malignant osteopetrosis Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency

ORPHA number

319574

175 621

477857

319569 319574

319569

319574

93307 2990 424261

424261

319332 319332 280654 2990 88616

90636

90636

98676 93329 67047 67047 227976

Disease name

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency Autosomal recessive metaphyseal chondrodysplasia Autosomal recessive methemoglobinemia Autosomal recessive MSMD due to complete RORgamma receptor defiency Autosomal recessive MSMD due to partial IFNgammaR1 deficiency Autosomal recessive MSMD due to partial IFNgammaR2 deficiency Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency Autosomal recessive multiple epiphyseal dysplasia Autosomal recessive multiple pterygium syndrome Autosomal recessive muscular dystrophy due to LAP1B deficiency Autosomal recessive muscular dystrophy due to Torsin-1Ainteracting protein 1 deficiency Autosomal recessive myogenic AMC Autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive nail dysplasia Autosomal recessive non-lethal multiple pterygium syndrome Autosomal recessive nonsyndromic intellectual disability Autosomal recessive nonsyndromic neurosensory deafness type DFNB Autosomal recessive nonsyndromic sensorineural deafness type DFNB Autosomal recessive nonsyndromic optic atrophy Autosomal recessive omodysplasia Autosomal recessive optic atrophy plus syndrome Autosomal recessive optic atrophy type 3 Autosomal recessive optic atrophy, OPA7 type



23

ORPHA number

Disease name

ORPHA number

Autosomal recessive osteoclast178389 poor osteopetrosis with 178389

1366

1366

731 1234

88628

477857

437552

437552

2512 254886 93607 171876 1507

247378

247378

247378

247378 101150 970 70594

420702

hypogammaglobulinemia Autosomal recessive osteopetrosis type 7 Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia Autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal recessive polycystic kidney disease Autosomal recessive popliteal pterygium syndrome Autosomal recessive posterior column ataxia and retinitis pigmentosa Autosomal recessive primary immunodeficiency due to RORC mutation Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity Autosomal recessive primary microcephaly Autosomal recessive progressive external ophthalmoplegia Autosomal recessive proximal renal tubular acidosis Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive Robinow syndrome Autosomal recessive secondary erythrocytosis not associated with VHL gene Autosomal recessive secondary erythrocytosis, non-Chuvash type Autosomal recessive secondary polycythemia not associated with VHL gene Autosomal recessive secondary polycythemia, non-Chuvash type Autosomal recessive Segawa syndrome Autosomal recessive sensory radicular neuropathy Autosomal recessive sepiapterin reductase-deficient DRD Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Disease name

Autosomal recessive severe 420699 congenital neutropenia due to

331176

423384

260305 98 397946 314603 254343 313772 98 314603

254343

100986 2822 100995 100996 209951 101000 101001 101003 101004 101005 101006 101007 101008 171622

CXCR2 deficiency Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Autosomal recessive sideroblastic anemia Autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia type 2 Autosomal recessive spastic ataxia type 3 Autosomal recessive spastic ataxia type 4 Autosomal recessive spastic ataxia type 5 Autosomal recessive spastic ataxia type 6 Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome Autosomal recessive spastic paraplegia type 5A Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 14 Autosomal recessive spastic paraplegia type 15 Autosomal recessive spastic paraplegia type 18 Autosomal recessive spastic paraplegia type 20 Autosomal recessive spastic paraplegia type 21 Autosomal recessive spastic paraplegia type 23 Autosomal recessive spastic paraplegia type 24 Autosomal recessive spastic paraplegia type 25 Autosomal recessive spastic paraplegia type 26 Autosomal recessive spastic paraplegia type 27 Autosomal recessive spastic paraplegia type 28 Autosomal recessive spastic paraplegia type 32

ORPHA number 171629 139480 320370 320401 320396 320391 306511 320385 319199 320380 320375 320411 431329 397946 401795 401800 401780 401785 401805 401810 320396 401815 401820 401825 401830 401835 401840 468661

Disease name

Autosomal recessive spastic paraplegia type 35 Autosomal recessive spastic paraplegia type 39 Autosomal recessive spastic paraplegia type 43 Autosomal recessive spastic paraplegia type 44 Autosomal recessive spastic paraplegia type 45 Autosomal recessive spastic paraplegia type 46 Autosomal recessive spastic paraplegia type 48 Autosomal recessive spastic paraplegia type 49 Autosomal recessive spastic paraplegia type 53 Autosomal recessive spastic paraplegia type 54 Autosomal recessive spastic paraplegia type 55 Autosomal recessive spastic paraplegia type 56 Autosomal recessive spastic paraplegia type 57 Autosomal recessive spastic paraplegia type 58 Autosomal recessive spastic paraplegia type 59 Autosomal recessive spastic paraplegia type 60 Autosomal recessive spastic paraplegia type 61 Autosomal recessive spastic paraplegia type 62 Autosomal recessive spastic paraplegia type 63 Autosomal recessive spastic paraplegia type 64 Autosomal recessive spastic paraplegia type 65 Autosomal recessive spastic paraplegia type 66 Autosomal recessive spastic paraplegia type 67 Autosomal recessive spastic paraplegia type 68 Autosomal recessive spastic paraplegia type 69 Autosomal recessive spastic paraplegia type 70 Autosomal recessive spastic paraplegia type 71 Autosomal recessive spastic paraplegia type 74



24

ORPHA number 459056 488594 466722

101005

98920

1170 95433 284332 284324 139485 284289 284271 284282 324262 352403 404499 397709 466794

95433

95433

2311

401979

250984

745

Disease name

Autosomal recessive spastic paraplegia type 75 Autosomal recessive spastic paraplegia type 76 Autosomal recessive spastic paraplegia type 77 Autosomal recessive spastic paraplegia-disc herniation syndrome Autosomal recessive spinal muscular atrophy with respiratory distress Autosomal recessive spinocerebellar ataxia type 2 Autosomal recessive spinocerebellar ataxia type 3 Autosomal recessive spinocerebellar ataxia type 6 Autosomal recessive spinocerebellar ataxia type 7 Autosomal recessive spinocerebellar ataxia type 9 Autosomal recessive spinocerebellar ataxia type 10 Autosomal recessive spinocerebellar ataxia type 11 Autosomal recessive spinocerebellar ataxia type 12 Autosomal recessive spinocerebellar ataxia type 13 Autosomal recessive spinocerebellar ataxia type 14 Autosomal recessive spinocerebellar ataxia type 15 Autosomal recessive spinocerebellar ataxia type 20 Autosomal recessive spinocerebellar ataxia type 21 Autosomal recessive spinocerebellar ataxia-blindnessdeafness syndrome Autosomal recessive spinocerebellar ataxia-blindnesshearing loss syndrome Autosomal recessive spondylocostal dysostosis Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Autosomal recessive Stickler syndrome Autosomal recessive thrombophilia due to congenital protein C deficiency

ORPHA number

Disease name

Autosomal recessive thrombophilia due to congenital protein S deficiency Autosomal recessive 745 thrombophilia due to PC deficiency Autosomal semi-dominant severe 280365 lipodystrophic laminopathy 300345 Autosomal SLE Autosomal spastic paraplegia type 101010 30 Autosomal spastic paraplegia type 401849 72 Autosomal systemic lupus 300345 erythematosus Autosomal thrombocytopenia 168629 with normal platelets 352490 AUTS2 syndrome 96 AVED 98963 Avellino corneal dystrophy 454836 Avian influenza 99000 AVMD 58 AxD 363717 AxD type I 363722 AxD type II 98978 Axenfeld anomaly 782 Axenfeld syndrome 782 Axenfeld-Rieger syndrome Axial mesodermal dysplasia 1834 spectrum 2777 Axial osteosclerosis Axial spondylometaphyseal 168549 dysplasia 401911 AXIN2-related AFAP AXIN2-related attenuated familial 401911 adenomatous polyposis AXIN2-related attenuated familial 401911 polyposis coli 401911 AXIN2-related attenuated FAP Axonal Charcot-Marie-Tooth 101102 disease with pyramidal involvement Axonal neuropathy-optic atrophy457205 cognitive deficit syndrome Axonal polyneuropathy associated 209004 with IgG/IgM/IgA monoclonal gammopathy 1435 Ayazi syndrome 477668 Aymé-Gripp syndrome 284454 AZOOR Azoospermia due to maturation →399805 arrest Azoospermia due to meiosis →399805 defect Azoospermia-sinopulmonary 3471 infections syndrome 743

ORPHA number 98757 99121 99121 99121 79332 75496 99860 67038 67038 464336 86852 67038 404560 86852 108 206994 36234 36234 69736 86814 2819 352577 1658 139471 1223 1223 139450 363746 363746 93395 1225 66529 228165 634 1226 1226 98955 1227 130 1228 109 139507 289539 1229

Disease name

Azorean disease of the nervous system Azygos continuation of the inferior caval vein Azygos continuation of the inferior vena cava Azygos continuation of the IVC B4GALT1-CDG B4GALT7-CDG B-ALL B-cell chronic lymphocytic leukemia B-cell chronic lymphoid leukemia B-cell expansion with NF-kB and Tcell anergy disease B-cell prolymphocytic leukemia B-CLL B-K mole syndrome B-PLL Babesiosis Bacterial myositis Bacterial toxic-shock syndrome Bacterial TSS BADI BAFME Bahemuka-Brown syndrome Bainbridge-Roppers syndrome Baird syndrome Bakrania-Ragge syndrome Balantidiasis Balantidiosis Balikova-Vermeesch syndrome Balint syndrome Balint-Holmes syndrome Ballard syndrome Baller-Gerold syndrome Ballooning cardiomyopathy Baló concentric sclerosis Bamboo hair syndrome Bamforth syndrome Bamforth-Lazarus syndrome Band-shaped and whorled microcystic dystrophy of the corneal epithelium Bangstad syndrome Bangungut Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bantu siderosis BAP1-related tumor predisposition syndrome Baraitser-Brett-Piesowicz syndrome



25

ORPHA Disease name number 2753 Baraitser-Burn syndrome 1229 Baraitser-Reardon syndrome 2995 2237 1231 110 34592 572 3317 443084 79087 2698 111 64692 50839 64694 1234 112 93605 89938 263417 93605 89938 263417 263417 93604 93604 494451 377 268829 →1658 79301 79303 79302 79095 50810 244283 14 1875 100976 1948 79264 →1071 166113 113 65284 363444

Baraitser-Winter cerebrofrontofacial syndrome Barakat syndrome Barber-Say syndrome Bardet-Biedl syndrome Bare lymphocyte syndrome type 1 Bare lymphocyte syndrome type 2 Barnes syndrome Baroreflex failure Barraquer-Simons syndrome Bart-Pumphrey syndrome Barth syndrome Bartonellosis due to Bartonella bacilliformis infection Bartonellosis due to Bartonella henselae infection Bartonellosis due to Bartonella quintana infection Bartsocas-Papas syndrome Bartter syndrome Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome type 5 Bartter syndrome type III Bartter syndrome type IV Bartter syndrome type V Bartter syndrome with hypocalcemia Bartter syndrome, furosemide type Bartter syndrome, furosemideamiloride type Basal cell carcinoma of vulva Basal cell nevus syndrome Basal encephalocele Basan syndrome BASD1 BASD2 BASD3 BASD4 Basel-Vanagaite-Sirota syndrome BASM syndrome Bassen-Kornzweig disease Bassoe syndrome Bathing suit ichthyosis Battaglia-Neri syndrome Batten disease Baughman syndrome Bazex syndrome Bazex-Dupré-Christol syndrome BBGD BBIS

ORPHA number 110 BBS 401777 BBSOAS 41751 1997 312 511 511 247203 113 115 115 1059 1555 363444 98895 98895 64755 116 231127 96076

231130

231120 231117 238613

96193 1945 1945 2572 322 1237 275864 2705 117 476102 476102 247203 247203 1240 1492 100978 1241

Disease name

BCD BCD syndrome BCIE BCKD deficiency BCKDH deficiency BDC BDCS Beals syndrome Beals-Hecht syndrome Bean syndrome Beare-Stevenson cutis gyrata syndrome Beaulieu-Boycott-Innes syndrome Becker dystrophinopathy Becker muscular dystrophy Becker nevus syndrome Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 BECRS BECTS Bedouin spastic ataxia syndrome BEEC Beemer-Ertbruggen syndrome Behavioral variant of frontotemporal dementia Behrens-Baumann-Vogel syndrome Behçet disease Behçet-like disease due to HA20 Behçet-like disease due to haploinsufficiency of A20 Bellini carcinoma Bellini duct carcinoma Bellini syndrome Ben Ari-Shuper-Mimouni syndrome Benallegue-Lacete syndrome Bencze syndrome

ORPHA number 86814 86814 610 157997 98816 98815 2841 251287 440233 254864 180284 1945 276148 1429 1945 306 306 306 163717 1949 1949 1949 140927 163717 65684 1544 1429 254704 64545

166308

166305 238624 285

Disease name

Benign adult familial myoclonic epilepsy Benign adult familial myoclonus epilepsy Benign autosomal dominant myopathy Benign cephalic histiocytosis Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign chronic familial pemphigus of Hailey-Hailey Benign concentric annular macular dystrophy Benign congenital sixth cranial nerve palsy Benign COX deficiency Benign ductal tumor of breast Benign epilepsy of childhood with centrotemporal spikes Benign epithelial tumor of salivary glands Benign familial chorea Benign familial epilepsy of childhood with rolandic spikes Benign familial infantile convulsions Benign familial infantile epilepsy Benign familial infantile seizures Benign familial mesial temporal lobe epilepsy Benign familial neonatal convulsions Benign familial neonatal epilepsy Benign familial neonatal seizures Benign familial neonatal-infantile seizures Benign FMTLE Benign focal amyotrophy Benign focal seizures of adolescence Benign hereditary chorea Benign hyperferritinemia Benign idiopathic neonatal seizures Benign infantile focal epilepsy with midline spikes and wave during sleep Benign infantile seizures associated with mild gastroenteritis Benign intracranial hypertension Benign joint hypermobility syndrome



26

ORPHA Disease name number 464359 Benign metanephric tumour 168816 86909 86909 140927 209973 25968 342 1179 71518 166299

166302

65682 99960 99961 342 1945 324581 252164 180237 2198 54247 464336 528 171839 528 2241 647 1816 274 178528 133 797 321 1243 1243 1243 79332 65287 309310

Benign multicystic peritoneal mesothelioma Benign myoclonic epilepsy of infancy Benign myoclonus epilepsy of infancy Benign neonatal-infantile epilepsy Benign nocturnal alternating hemiplegia of childhood Benign occipital epilepsy Benign paroxysmal peritonitis Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy Benign partial epilepsy of infancy with complex partial seizures Benign partial epilepsy with secondarily generalized seizures in infancy Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 2 Benign recurrent polyserositis Benign rolandic epilepsy Benign Samaritan congenital myopathy Benign schwannoma Benign tumor of fallopian tubes Bennion-Patterson syndrome Benson syndrome BENTA disease Beradinelli-Seip syndrome Berant syndrome Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berlin breakage syndrome Berlin syndrome Bernard-Soulier syndrome Berti lymphoma Berylliosis Besnier-Boeck-Schaumann disease Bessel-Hagen disease Best disease Best macular dystrophy Best vitelliform macular dystrophy Beta-1,4-galactosyltransferase deficiency Beta-alanine synthase deficiency Beta-D-galactosidase deficiency

ORPHA Disease name number 354 Beta-galactosidase-1 deficiency 584 Beta-glucuronidase deficiency 134 118 118 1035 329284 119 848 231222 231214 →33364 231393 65287 610 2114 2114 306 306 127 140927 1949 293284 293284 1429 93311 98964 180086 180106 180111 2088 2182 79138 3286 →33364 1246 141333 41751 41751 41751 1986 295006 295177

Beta-ketothiolase deficiency Beta-mannosidase deficiency Beta-mannosidosis Beta-mercaptolactate cysteine disulfiduria Beta-propeller protein-associated neurodegeneration Beta-sarcoglycanopathy Beta-thalassemia Beta-thalassemia intermedia Beta-thalassemia major Beta-thalassemiatrichothiodystrophy syndrome Beta-thalassemia-X-linked thrombocytopenia syndrome Beta-ureidopropionase deficiency Bethlem myopathy Beukes familial hip dysplasia BFHD BFIE BFIS BFLS BFNIS BFNS BH4-responsive HPA/PKU BH4-responsive hyperphenylalaninemia/phenylket onuria BHC BHMED Biber-Haab-Dimmer dystrophy Bicervical bicornuate uterus Bicervical bicornuate uterus and blind hemivagina Bicervical bicornuate uterus with patent cervix and vagina Bickel-Fanconi glycogenosis Bickers-Adams syndrome Bickerstaff brainstem encephalitis Bidirectional tachycardia induced by catecholamine BIDS syndrome Biemond syndrome Biemond syndrome type 2 Bietti crystalline corneoretinal dystrophy Bietti crystalline dystrophy Bietti crystalline retinopathy Bifid femur-monodactylous ectrodactyly syndrome Bifid great toes Bifid great toes, bilateral

ORPHA Disease name number 295175 Bifid great toes, unilateral 295006 Bifid halluces 295177 Bifid halluces, bilateral 295175 Bifid halluces, unilateral 295006 Bifid hallux 295177 Bifid hallux, bilateral 295175 Bifid hallux, unilateral 2695 Bifid nose 217266 99771 99771 300 637 69736 319205 325124 2048 1229 208444 101070 208447 93311

438117

319205 97364 140963 97364 97364 208441 98889 268940 295150 1980 1314 276066

Bifid nose with or without anorectal and renal anomalies Bifid uvula Bifidity of the uvula Bifunctional enzyme deficiency Bilateral acoustic neurofibromatosis Bilateral acute depigmentation of the iris Bilateral adrenal hemorrhage Bilateral anorchia Bilateral anterior opercular syndrome Bilateral band-like calcification with polymicrogyria Bilateral frontal polymicrogyria Bilateral frontoparietal polymicrogyria Bilateral generalized polymicrogyria Bilateral hereditary microepiphyseal dysplasia Bilateral hip and radial head dislocations-short stature-scoliosiscarpal coalitions-pes cavus-facial dysmorphism syndrome Bilateral massive adrenal hemorrhage Bilateral MCDK Bilateral microtia-deafness-cleft palate syndrome Bilateral multicystic dysplastic kidney Bilateral multicystic renal dysplasia Bilateral parasagittal parietooccipital polymicrogyria Bilateral perisylvian polymicrogyria Bilateral polymicrogyria Bilateral PPD2 Bilateral striopallidodentate calcinosis Bilateral symmetrical thalamic gliosis Bile acid CoA ligase deficiency and defective amidation



27

ORPHA Disease name number 70567 Bile duct cancer 1276 Bilginturan brachydactyly 1276 1247 244283 424982 386 →2697 98836 415286 205

79234

79235 205 79234 79235 1799 166308 1248 3304 65284 65284 79241 54247 364198 99908 2617 179 179 179 179 122 79133 2213 285 123 124 93930 322 37202 98922 254379 254379

Bilginturan syndrome Bilharziasis Biliary atresia with splenic malformation syndrome Biliary cystadenocarcinoma Biliary hamartoma Biliary tract malformation-renal failure syndrome Bilineal acute leukemia Bilirubin encephalopathy Bilirubin uridinediphosphate glucuronosyltransferase deficiency Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-UGT deficiency Bilirubin-UGT deficiency type 1 Bilirubin-UGT deficiency type 2 Billard-Toutain-Maheut syndrome BIMSE Binder syndrome Bindewald-Ulmer-Müller syndrome Biotin-responsive basal ganglia disease Biotin-thiamine-responsive basal ganglia disease Biotinidase deficiency Biparietal Alzheimer disease Bipartite talus Bird fancier lung Bird headed-dwarfism, Montreal type Birdshot chorioretinitis Birdshot chorioretinopathy Birdshot retinochoroiditis Birdshot retinochoroidopathy Birt-Hogg-Dubé syndrome Bitemporal aplasia cutis congenita Bixler-Christian-Gorlin syndrome BJHS Björnstad syndrome Blackfan-Diamond anemia Bladder exstrophy Bladder exstrophy-epispadiascloacal extrophy complex Bladder pain syndrome Blake pouch cyst Blaschkoid lichen planus Blaschkoid LP

ORPHA Disease name number 86870 Blastic NK-cell lymphoma 86870 1834 90340 50945 1229 73271 98885 98886 220443

420566

420566 1997 1253 1997 →2353 1252 2728 126 261572 261579

261559

261579

261572

261579

126

→2707

293725

293707

Blastic plasmacytoid dendritic cell neoplasm Blastogenesis defect Blau syndrome BLC BLC-PMG Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to thromboxane synthesis deficiency Bleeding disorder due to calciumand DAG-regulated guanine exchange factor-1 deficiency Bleeding disorder due to CalDAGGEFI deficiency Blepharo-cheilo-odontic syndrome Blepharochalasis-double lip syndrome Blepharocheilodontic syndrome Blepharofacioskeletal syndrome Blepharonasofacial malformation syndrome Blepharophimosis syndrome, Ohdo type Blepharophimosis types 1 and 2 Blepharophimosis types 1 and 2 due to a point mutation Blepharophimosis types 1 and 2 due to copy number variations Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome Blepharophimosis-epicanthus inversus-ptosis due to a CNV Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Blepharophimosis-epicanthus inversus-ptosis due to copy number variations Blepharophimosis-epicanthus inversus-ptosis syndrome Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency Blepharophimosis-intellectual disability syndrome type V Blepharophimosis-intellectual disability syndrome, Maat-KievitBrunner type

ORPHA number 293707 2728 3047 293725

2057

1256 1968 1259 93964 171844 464 464 50945 50945 50945 125 2768 88629 16 16 94086 1059 98989 319205 1243 98895 293725 293707 293707 2728 293725 353253 217266 50945 217008 1292 2724 48686 91135 797

Disease name

Blepharophimosis-intellectual disability syndrome, MKB type Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-ptosisesotropia-syndactyly-short stature syndrome Blepharophimosis-radioulnar synostosis syndrome Blepharophimosis-telecanthusmicrostomia syndrome Blepharoptosis-myopia-ectopia lentis syndrome Blepharospasm-oromandibular dystonia syndrome Blindness-scoliosis-arachnodactyly syndrome Bloch-Siemens syndrome Bloch-Sulzberger syndrome Blomstrand chondrodysplasia Blomstrand lethal chondrodysplasia Blomstrand osteochondrodysplasia Bloom syndrome Blount disease Blue colour blindness Blue cone monochromacy Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus Blue-dot cataract BMAH BMD BMD BMRS type V BMRS, Maat-Kievit-Brunner type BMRS, MKB type BMRS, Ohdo type BMRS, Verloes type BMS BNAR syndrome BOCD Bockenheimer syndrome BOD syndrome Boder syndrome Body cavity-based lymphoma Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Boeck sarcoid



28

ORPHA Disease name number 797 Boeck's sarcoid 1297 BOFS 97297 97297 84081 401874 319229 1844 1842 85182 300284 2050 2934 163 2941 1261 53719 1262 1263 1303 1933 107 206473 206473 127 1264 90001 36273 97297 401777 69737 2250 2250 85128 128 1267 1180 805 83313 →912 1270 1270 97353

Bohring syndrome Bohring-Opitz syndrome Boichis disease BOLA3 deficiency Bolivian hemorrhagic fever Bone dysplasia, Azouz type Bone dysplasia, lethal Holmgren type Bone dysplasia-medullary fibrosarcoma syndrome Bone fragility-contractures-arterial rupture-deafness syndrome Bone fragility-craniosynostosisproptosis-hydrocephalus syndrome Bonneau syndrome Bonneau-Beaumont syndrome Bonnemann-Meinecke syndrome Bonnemann-Meinecke-Reich syndrome Bonnet-Dechaume-Blanc syndrome Böök syndrome Boomerang dysplasia BOOP Booth-Haworth-Dilling syndrome BOR syndrome Borderline epithelial tumor of ovary Borderline ovarian epithelial tumor Borjeson-Forssman-Lehmann syndrome Bork syndrome Bornholm eye disease Borrmann gastric cancer type 4 BOS syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome Bosley-Salih-Alorainy syndrome Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome Bothnia retinal dystrophy Bothriocephalosis Botulism Boucher-Neuhäuser syndrome Bourneville syndrome Boutonneuse fever Bowen syndrome Bowen syndrome, Hutterite type Bowen-Conradi syndrome Boxer's dementia

ORPHA Disease name number 50814 Boyadjiev-Jabs syndrome 329284 BPAN 70589 86870 2901 199 1519 1272 2619 294996 295130 295128 294998 295134 295132 93388 93396 93394 93389 93382 93397 93383 140908 93384 93387 1276 93395 93388 2946 93396 93397 93394 1276 1275 1001 1275 2946

1277

1246 1278

BPD BPDCN Brachial plexus neuritis Brachmann-de Lange syndrome Brachycephalofrontonasal dysplasia Brachycephaly-deafness-cataractintellectual disability syndrome Brachydactylous dwarfism, Mseleni type Brachydactyly of fingers Brachydactyly of fingers, bilateral Brachydactyly of fingers, unilateral Brachydactyly of toes Brachydactyly of toes, bilateral Brachydactyly of toes, unilateral Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly type E, with short stature and hypertension Brachydactyly types B and E combined Brachydactyly, Farabee type Brachydactyly, long thumb type Brachydactyly, Mohr-Wriedt type Brachydactyly, Smorgasbord type Brachydactyly, Temtamy type Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-intellectual disability syndrome Brachydactyly-joint dysplasia syndrome Brachydactyly-long thumb syndrome Brachydactyly-mesomeliaintellectual disability-heart defects syndrome Brachydactyly-nystagmuscerebellar ataxia syndrome Brachydactyly-preaxial hallux varus syndrome

ORPHA number

Disease name

Brachydactyly-scoliosis-carpal fusion syndrome Brachydactyly-short stature391646 microcephaly syndrome Brachydactyly-symphalangism 3168 syndrome Brachydactyly-syndactyly, Zhao 93409 type 93394 Brachymesophalangy II and V Brachymorphism1292 onychodysplasia-dysphalangism syndrome →448242 Brachyolmia type 1, Hobaek type →448242 Brachyolmia type 1, Toledo type 93302 Brachyolmia type 2 93304 Brachyolmia type 3 448242 Brachyolmia, Hobaek/Toledo type 93302 Brachyolmia, Maroteaux type Brachyolmia-amelogenesis 2899 imperfecta syndrome Brachytelephalangic 79345 chondrodysplasia punctata Brachytelephalangy-dysmorphism1295 Kallmann syndrome 441 Bradbury-Eggleston syndrome 52047 Braddock syndrome 3323 Braddock-Carey syndrome Braddock-Jones-Superneau 1538 syndrome 75374 Bradyopsia 178506 Brain calcification, Rajab type Brain demyelination due to 168598 methionine adenosyltransferase deficiency Brain dopamine-serotonin 352649 vesicular transport disease Brain malformation-congenital 75389 heart disease-postaxial polydactyly syndrome Brain malformationmusculoskeletal abnormalities500150 facial dysmorphism-intellectual disability syndrome Brain stem asymmetry-superior 467166 cerebellar and basal ganglia dysplasia syndrome 209905 Brain-lung-thyroid syndrome Branched chain alpha-ketoacid 255182 dehydrogenase complex deficiency Branched-chain 2-ketoacid 511 dehydrogenase deficiency 511 Branched-chain ketoaciduria Branchial dysplasia-intellectual 1296 disability-inguinal hernia syndrome 1297 Branchio-oculo-facial syndrome 50815 Branchiogenic deafness syndrome 2956



29

ORPHA Disease name number 52429 Branchiootic syndrome 107 Branchiootorenal syndrome 1299 79133 2669 319239 1059 1945 85284 85284 65682 99960 99961 99960 99961 99990 99990 666 90354 →33364 →33364 783 783 412 53347 66529 97287 →3471 1302 1303 2357 70589 1116 99829 79493 97229 109 2353 1304 2771 130 3057 1305 391641 391646 528 →528 47

Branchioskeletogenital syndrome Brauer syndrome Braun-Bayer syndrome Brazilian hemorrhagic fever BRBN BRE BRESEK syndrome BRESHECK syndrome BRIC BRIC1 BRIC2 BRIC type 1 BRIC type 2 Brill disease Brill-Zinsser disease Brittle bone disease Brittle cornea syndrome Brittle hair syndrome, Sabinas type Brittle hair-mental deficiency syndrome Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Broad-betalipoproteinemia Brody myopathy Broken heart syndrome Bronchial endocrine tumor Bronchiectasis-oligospermia syndrome Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans with obstructive pulmonary disease Bronchogenic cyst Bronchopulmonary dysplasia Bronspiegel-Zelnick syndrome Bronze John Brooke-Spiegler syndrome Brown-Vialetto-van Laere syndrome BRRS BRSS Brucellosis Bruck syndrome Brugada syndrome Brunner syndrome Brunner-Winter syndrome Brunner-Winter syndrome type 1 Brunner-Winter syndrome type 2 Brunzell syndrome Brunzell syndrome Bruton type agammaglobulinemia

ORPHA Disease name number 528 BSCL 79304 BSEP deficiency 1299 BSG syndrome 100976 BSI 1980 BSPDC 125 65284 79241 111 47 2314 131 36258 2285 312 312 280785 280785 1867 312 36237 33408 703 →193 98976 98976 98976 543 1200 353253 800 800 352763 79501 1306 99001 99001 99001 1307 132 275864 1243 116 79306 459353 280133

BSyn BTBGD BTD deficiency BTHS BTK-deficiency Buckley syndrome Budd-Chiari syndrome Buerger disease Bull-Nixon syndrome Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous DCM Bullous diffuse cutaneous mastocytosis Bullous dystrophy, macular type Bullous ichthyosis Bullous impetigo Bullous lichen planus Bullous pemphigoid Buntinx-Lormans-Martin syndrome Buphthalmia Buphthalmos Buphthalmus Burkitt lymphoma Burn-McKeown syndrome Burning mouth syndrome Burton skeletal dysplasia Burton syndrome Buschke scleredema Buschke-Fischer-Brauer syndrome Buschke-Ollendorff syndrome Butterfly-shaped pattern dystrophy Butterfly-shaped pigment dystrophy Butterfly-shaped pigmentary macular dystrophy Buttiens-Fryns syndrome Butyrylcholinesterase deficiency bv-FTD BVMD BWS Byler disease C1 inhibitor deficiency C3 deficiency

ORPHA number →329931 329931 329918 401901 401901 1308 231242 97297 495844

495844 401948 85293 1309 75377 135 2848 159 56425 448010 136 369942 2566 1310 436174 90791 90795 90793 1375 435988 99429 289601 499182 199260 499182

90290

280062 280065 1416 1408

Disease name

C3 deposition glomerulonephritis without proliferation C3 glomerulonephritis C3 glomerulopathy C9ORF72-related Huntington disease phenocopy C9ORF72-related Huntington disease-like syndrome C syndrome C-beta-thalassemia C-like syndrome C11ORF73-related autosomal recessive hypomyelinating leukodystrophy C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy CA-VA deficiency Cabezas syndrome Cacchi-Ricci disease CACD CACH syndrome CACP syndrome CACT deficiency CAD CAD-CDG CADASIL CADDS CAEBV syndrome Caffey disease CAGSSS CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency CAH due to 11-beta-hydroxylase deficiency CAH due to 17-alpha-hydroxylase deficiency CAHMR syndrome CAID syndrome CAIS Calcification of joints and arteries Calcified epithelial carcinoma of Malherbe Calcifying aponeurotic fibroma Calcifying epitheliocarcinoma Calcinosis-Raynaud phenomenonesophageal involvementsclerodactyly-telangiectasia syndrome Calciphylaxis Calciphylaxis cutis Calcium pyrophosphate dihydrate crystal deposition disease Calderón-González-Cantu syndrome



30

ORPHA Disease name number 228123 California disease 83483 Californian encephalitis 289601 CALJA 85192 →1466 3003 2163 →1466 79395 83472 1318 140 140 1319 295016 1327 1326 488434 2848 376

1321

1323 3447 85164 1325 1766 141194 53719 141199 3319 1328 3261 141 289385 180242 71505 2700 325004 71279 2233 1335

Calvarial doughnut lesions-bone fragility syndrome CAMAK syndrome Camera syndrome Camero-Lituania-Cohen syndrome CAMFAK syndrome Camisa disease CAMOS syndrome Campomelia, Cumming type Campomelic dwarfism Campomelic dysplasia Camptobrachydactyly Camptodactyly of fingers Camptodactyly syndrome, Guadalajara type 1 Camptodactyly syndrome, Guadalajara type 2 Camptodactyly syndrome, Guadalajara type 3 Camptodactyly-arthropathy-coxavara-pericarditis syndrome Camptodactyly-cleft palateclubfoot syndrome Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome Camptodactyly-joint contracturesfacial skeletal defects syndrome Camptodactyly-overgrowthunusual facies syndrome Camptodactyly-tall staturescoliosis-hearing loss syndrome Camptodactyly-taurinuria syndrome CAMRQ syndrome CAMS1 CAMS2 CAMS3 CAMT Camurati-Engelmann disease Canale-Smith syndrome Canavan disease Cancer diagnosed during pregnancy Cancer of fallopian tubes Cancer-associated retinopathy Cancrum oris CANDLE syndrome CANOMAD syndrome Cantalamessa-Baldini-Ambrosi syndrome Cantrell deformity

ORPHA Disease name number 1335 Cantrell syndrome 363705 171881 160148 171881 160148 85199 166260 75327 75327 188 188 79490 79490 137667 1171 171839 464343 71505 199354 147 147 147 79328 79318 79319 79320 79321 79322 79323 79324 79325 79326

397941

79329

Cantu craniofaciofrontodigital syndrome Cap disease Cap inflammatory polyposis Cap myopathy Cap polyposis CAP syndrome Capdepont teeth CAPE dystrophy CAPED Capillary hyperpermeability syndrome Capillary leak syndrome Capillary lymphangioma Capillary lymphatic malformation Capillary malformationarteriovenous malformation CAPOS syndrome Capra-DeMarco syndrome CAPS CAR syndrome CARASIL Carbamoyl-phosphate synthetase 1 deficiency Carbamoyl-phosphate synthetase deficiency Carbamoyl-phosphate synthetase I deficiency Carbohydrate deficient glycoprotein syndrome type 1L Carbohydrate deficient glycoprotein syndrome type Ia Carbohydrate deficient glycoprotein syndrome type Ib Carbohydrate deficient glycoprotein syndrome type Ic Carbohydrate deficient glycoprotein syndrome type Id Carbohydrate deficient glycoprotein syndrome type Ie Carbohydrate deficient glycoprotein syndrome type If Carbohydrate deficient glycoprotein syndrome type Ig Carbohydrate deficient glycoprotein syndrome type Ih Carbohydrate deficient glycoprotein syndrome type Ii Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency Carbohydrate deficient glycoprotein syndrome type IIa

ORPHA number 79330 79332 79333 238459 263508 95428 263487 263501 314667 468699 468684 466703 86309 79327 91131 244310 263494 280071 300536 329178 370924 370927 448010 306686 2785 213605 100093 319308 418945

Disease name

Carbohydrate deficient glycoprotein syndrome type IIb Carbohydrate deficient glycoprotein syndrome type IId Carbohydrate deficient glycoprotein syndrome type IIe Carbohydrate deficient glycoprotein syndrome type IIf Carbohydrate deficient glycoprotein syndrome type IIg Carbohydrate deficient glycoprotein syndrome type IIh Carbohydrate deficient glycoprotein syndrome type IIi Carbohydrate deficient glycoprotein syndrome type IIj Carbohydrate deficient glycoprotein syndrome type IIk Carbohydrate deficient glycoprotein syndrome type IIn Carbohydrate deficient glycoprotein syndrome type IIo Carbohydrate deficient glycoprotein syndrome type IIp Carbohydrate deficient glycoprotein syndrome type Ij Carbohydrate deficient glycoprotein syndrome type Ik Carbohydrate deficient glycoprotein syndrome type Im Carbohydrate deficient glycoprotein syndrome type In Carbohydrate deficient glycoprotein syndrome type Io Carbohydrate deficient glycoprotein syndrome type Ip Carbohydrate deficient glycoprotein syndrome type Ir Carbohydrate deficient glycoprotein syndrome type Iu Carbohydrate deficient glycoprotein syndrome type Ix Carbohydrate deficient glycoprotein syndrome type Iy Carbohydrate deficient glycoprotein syndrome type Iz Carbon monoxide-induced parkinsonism Carbonic anhydrase 2 deficiency Carcinofibroma of the corpus uteri Carcinoid syndrome Carcinoma associated with MITF/TFE translocation Carcinoma of esophagus, salivary gland type



31

ORPHA number

Disease name

Carcinoma of stomach, salivary gland type 300557 Carcinoma of the ampulla of Vater 213787 Carcinosarcoma of the cervix uteri Carcinosarcoma of the corpus 213610 uteri Cardiac anomalies-developmental 369891 delay-facial dysmorphism syndrome Cardiac anomalies-heterotaxy 137628 syndrome Cardiac conduction disease-dilated 168796 cardiomyopathy-brachydactyly syndrome 1686 Cardiac diverticulum 875 Cardiac tumor of child Cardiocranial syndrome, Pfeiffer 2872 type Cardiodysrhythmic potassium37553 sensitive periodic paralysis 1340 Cardiofaciocutaneous syndrome 97292 Cardiogenic shock 2229 Cardiogenital syndrome 1342 Cardiomelic syndrome type 3 500 Cardiomyopathic lentiginosis Cardiomyopathy with hypotonia 70474 due to cytochrome C oxidase deficiency Cardiomyopathy with myopathy 70474 due to COX deficiency Cardiomyopathy-cataract-hip 1345 spine disease syndrome Cardiomyopathy-hypotonia-lactic 91130 acidosis syndrome Cardiomyopathy-renal anomalies 90022 syndrome Cardioskeletal myopathy with 111 neutropenia and abnormal mitochondria Cardioskeletal myopathy111 neutropenia syndrome Cardiospondylocarpofacial 3238 syndrome 2072 Cardiovascular Gaucher disease 1358 Carey-Fineman-Ziter syndrome 79403 Carmi syndrome →293843 Carnevale syndrome Carnevale-Hernández-del Castillo 2947 syndrome Carnevale-Krajewska-Fischetto →293843 syndrome 1359 Carney complex 319340 Carney complex variant Carney complex-trismus319340 pseudocamptodactyly syndrome 423781

ORPHA Disease name number 97286 Carney dyad 1359 Carney syndrome 139411 Carney triad 97286 97286 42

156 228302

228305

228308

228302 228308

228305

156 228302

228305

228308 228302 228308 228305 157 157 158 158 159 1361 1361 53035 480520 65759 93973 2767 64692

Carney-Stratakis dyad Carney-Stratakis syndrome Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyl transferase deficiency type 2, adult-onset form Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, myopathic form Carnitine palmitoyl transferase deficiency type 2, neonatal form Carnitine palmitoyl transferase deficiency type 2, severe infantile form Carnitine palmitoyl transferase IA deficiency Carnitine palmitoyl transferase II deficiency, adult-onset form Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form Carnitine palmitoyl transferase II deficiency, lethal systemic form Carnitine palmitoyl transferase II deficiency, myopathic form Carnitine palmitoyl transferase II deficiency, neonatal form Carnitine palmitoyl transferase II deficiency, severe infantile form Carnitine palmitoyltransferase deficiency type 2 Carnitine palmitoyltransferase II deficiency Carnitine transporter defect Carnitine uptake deficiency Carnitine-acylcarnitine translocase deficiency Carnosinase deficiency Carnosinemia Caroli disease Caroli syndrome Carpenter syndrome Carpenter-Waziri syndrome Carpotarsal osteochondromatosis Carrion disease

ORPHA Disease name number 175 Cartilage-hair hypoplasia

Cartilage-hair hypoplasia-like→175 skeletal dysplasia without 65282 209908 56425 94095 275517 1101 160 2513 195 50839 926 1373 1366 1368 314993 1383 162

436174

1375

1381

1387 →1466 →1466 1377 2712

1380

100990

464343 464343

hypotrichosis syndrome Carvajal syndrome CAS CAS Casamassima-Morton-Nance syndrome Caspase 8 deficiency syndrome Cassia Stocco dos Santos syndrome Castleman disease Castro Gago-Pombo-Novo syndrome Cat-eye syndrome Cat-scratch disease Catalase deficiency Cataract-aberrant oral frenulagrowth delay syndrome Cataract-alopecia-sclerodactyly syndrome Cataract-ataxia-deafness syndrome Cataract-congenital heart diseaseneural tube defect syndrome Cataract-deafness-hypogonadism syndrome Cataract-glaucoma syndrome Cataract-growth hormone deficiency-sensory neuropathysensorineural hearing loss-skeletal dysplasia syndrome Cataract-hypertrichosisintellectual disability syndrome Cataract-intellectual disabilityanal atresia-urinary defects syndrome Cataract-intellectual disabilityhypogonadism syndrome Cataract-microcephalyarthrogryposis-kyphosis syndrome Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome Cataract-microcornea syndrome Cataract-microphthalmiaradiculomegaly-cardiac septal defect syndrome Cataract-nephropathyencephalopathy syndrome Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome Catastrophic antiphospholipid syndrome Catastrophic APS



32

ORPHA Disease name number 567 CATCH 22 3286 800 1388 228337 60015 85164 1123 1756 3027 3027 99994 1329 99066 99067 99068 99068 99066 99067

2124 79489 79489 165958 567 94122 363972 79282 79283 79284 369955 70567 115 2444 280832 280840 280847 468684 98972 48431 2008 99827 661 289499 319276 2505 457246 280779

Catecholaminergic polymorphic ventricular tachycardia Catel-Hempel syndrome Catel-Manzke syndrome Cathepsin D deficiency Catlin marks CATSHL syndrome Caudal appendage-deafness syndrome Caudal duplication Caudal dysplasia Caudal regression sequence Causalgia CAVC CAVC type A CAVC type B CAVC type C CAVC-Fallot tetralogy syndrome CAVC-left heart obstruction syndrome CAVC-ventricle hypoplasia syndrome Cavernous hemangiomas of facesupraumbilical midline raphe syndrome Cavernous lymphangioma Cavernous lymphatic malformation Cavitary myiasis Cayler cardiofacial syndrome Cayman ataxia CBL syndrome CblC defect CblD defect CblF defect CblJ defects CCA CCA syndrome CCAM CCAM type 1 CCAM type 2 CCAM type 3 CCDC115-CDG CCDF CCFDN CCGE syndrome CCHF CCHS CCMCO CCRCC CCSF CCSK CCV

ORPHA number 86870 437552 238505 98841 293825 98869 98873 98870 293825 98869 98873 98870 293825 98869 98873 98870 293825 85199 293825 247203 163681 163681 79318 79319 79320 79321 79322 79323 79324 79325 79326 86309 79327 79328 91131 244310 263494 280071 324737 300536 324422 319646 329178 370921 370924 370927 448010 79329 79330 99843 79332 79333

Disease name

CD4+/CD56+ hematodermic neoplasm CD16 deficiency CD27 deficiency CD30 positive anaplastic large cell lymphoma CDA due to KLF1 mutation CDA I CDA II CDA III CDA IV CDA type 1 CDA type 2 CDA type 3 CDA type 4 CDA type I CDA type II CDA type III CDA type IV CDAGS syndrome CDAN4 CDC CDFE syndrome CDFES CDG1A CDG1B CDG1C CDG1D CDG1E CDG1F CDG1G CDG1H CDG1I CDG1J CDG1K CDG1L CDG1M CDG1N CDG1O CDG1P CDG1Q CDG1R CDG1S CDG1T CDG1U CDG1W CDG1X CDG1Y CDG1Z CDG2A CDG2B CDG2C CDG2D CDG2E

ORPHA number 238459 CDG2F 263508 CDG2G 95428

Disease name

CDG2H

263487 CDG2I 263501 CDG2J 314667 CDG2K 464443 CDG2L 356961 CDG2M 468699 CDG2N 468684 CDG2O 466703 CDG2P 79318 CDG syndrome type Ia 79319 79320 79321 79322 79323 79324 79325 79326 79329 79330 99843 79332 79333 238459 263508 95428 263487 263501 314667 464443 356961 468699 468684 466703 86309 79327 79328 91131 244310 263494 280071 324737 300536 324422 319646 329178 370921 370924 370927 448010 79318

CDG syndrome type Ib CDG syndrome type Ic CDG syndrome type Id CDG syndrome type Ie CDG syndrome type If CDG syndrome type Ig CDG syndrome type Ih CDG syndrome type Ii CDG syndrome type IIa CDG syndrome type IIb CDG syndrome type IIc CDG syndrome type IId CDG syndrome type IIe CDG syndrome type IIf CDG syndrome type IIg CDG syndrome type IIh CDG syndrome type IIi CDG syndrome type IIj CDG syndrome type IIk CDG syndrome type IIL CDG syndrome type IIm CDG syndrome type IIn CDG syndrome type IIo CDG syndrome type IIp CDG syndrome type Ij CDG syndrome type Ik CDG syndrome type IL CDG syndrome type Im CDG syndrome type In CDG syndrome type Io CDG syndrome type Ip CDG syndrome type Iq CDG syndrome type Ir CDG syndrome type Is CDG syndrome type It CDG syndrome type Iu CDG syndrome type Iw CDG syndrome type Ix CDG syndrome type Iy CDG syndrome type Iz CDG-Ia



33

ORPHA number 79319 CDG-Ib 79320 CDG-Ic 79321 79322 79323 79324 79325 79326 79329 79330 99843 79332 79333 238459 263508 95428 263487 263501 314667 464443 356961 468699 468684 466703 86309 79327 79328 91131 244310 263494 280071 324737 300536 324422 319646 329178 370921 370924 370927 448010 2140 1529 178029 1490 35173 35173 158 468641 1459 2718 1515 66631 275517

Disease name

CDG-Id CDG-Ie CDG-If CDG-Ig CDG-Ih CDG-Ii CDG-IIa CDG-IIb CDG-IIc CDG-IId CDG-IIe CDG-IIf CDG-IIg CDG-IIh CDG-IIi CDG-IIj CDG-IIk CDG-IIL CDG-IIm CDG-IIn CDG-IIo CDG-IIp CDG-Ij CDG-Ik CDG-IL CDG-Im CDG-In CDG-Io CDG-Ip CDG-Iq CDG-Ir CDG-Is CDG-It CDG-Iu CDG-Iw CDG-Ix CDG-Iy CDG-Iz CDH CDHS CDI CDPD CDPX2 CDPXD CDSP CEAS CEC Cecato de Lima-Pinheiro syndrome CED CEDNIK syndrome CEDS

ORPHA number 1459 293208 93942 3258 3258 3258 75377 75377 75327 2431 98972 98972 661 597 178029 →98967 99832

3240 73256 637 295004 295173 295171 295010 295004 295010 295185 295183 759 75327 411527 443079 90156 89841 89841 89841 319160

Disease name

Celiac disease-epilepsy-cerebral calcification syndrome Celiac trunk compression syndrome Celosomia Cenani syndactyly Cenani-Lenz syndactyly Cenani-Lenz syndrome Central areolar choroidal dystrophy Central areolar choroidal sclerosis Central areolar pigment epithelial dystrophy Central bilateral macrogyria Central cloudy corneal dystrophy of François Central cloudy dystrophy of François Central congenital hypoventilation syndrome Central core disease Central diabetes insipidus Central discoid corneal dystrophy Central hypothyroidism due to TRH receptor deficiency Central nervous system calcification-deafness-tubular acidosis-anemia syndrome Central neurocytoma Central neurofibromatosis Central polydactyly of fingers Central polydactyly of fingers, bilateral Central polydactyly of fingers, unilateral Central polydactyly of foot Central polydactyly of hand Central polydactyly of toes Central polydactyly of toes, bilateral Central polydactyly of toes, unilateral Central precocious puberty Central retinal pigment epithelial dystrophy Central retinal vein occlusion Central serous chorioretinopathy Centrifugal lipodystrophy Centripetal dystrophic epidermolysis bullosa Centripetal recessive dystrophic epidermolysis bullosa Centripetalis recessive dystrophic epidermolysis bullosa Centronuclear myopathy type 4

ORPHA Disease name number 1945 Centrotemporal epilepsy 79277 CEP 2398 79506 276183 94122 1171

1174 1173

1766

83472

97249

2246 251931 94147

1454 444072 444072 2318 475 1532 46724

136

199354

66631 821 →1900 2081 77261

Cephalothoracic lipodystrophy CEPT deficiency Cerebellar ataxia with azoospermia and intellectual disability Cerebellar ataxia, Cayman type Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebellar ataxia-ectodermal dysplasia syndrome Cerebellar ataxia-hypogonadism syndrome Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome Cerebellar atrophy with progressive microcephaly Cerebellar hypoplasiatapetoretinal degeneration syndrome Cerebellar liponeurocytoma Cerebellar syndrome-pigmentary maculopathy syndrome Cerebellar vermis hypoplasiaoligophrenia-congenital ataxiacoloboma-hepatic fibrosis Cerebellar-facial-dental syndrome Cerebellofaciodental syndrome Cerebellooculorenal syndrome Cerebelloparenchymal disorder IV Cerebellotrigeminal-dermal dysplasia syndrome Cerebral arteriovenous malformation Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral dysgenesis-neuropathyichthyosis-palmoplantar keratoderma syndrome Cerebral gigantism Cerebral gigantism, Nevo type Cerebral gigantism-jaw cysts syndrome Cerebral juvenile and adult form of Gaucher disease



34

ORPHA number

Disease name

Cerebral proliferative glomeruloid vasculopathy 329217 Cerebral sinovenous thrombosis 447788 Cerebral visual impairment Cerebro-cutaneous syndrome with 397922 iron overload Cerebro-oculo-facial-lymphatic →2995 syndrome Cerebrocostomandibular 1393 syndrome Cerebrofacial arteriovenous 141194 metameric syndrome type 1 Cerebrofacial arteriovenous 53719 metameric syndrome type 2 Cerebrofacial arteriovenous 141199 metameric syndrome type 3 314679 Cerebrofacioarticular syndrome 1394 Cerebrofaciothoracic dysplasia 912 Cerebrohepatorenal syndrome Cerebromedullospinal 2406 disconnection Cerebrooculodentoauriculoskeleta 1458 l syndrome Cerebrooculofacioskeletal 1466 syndrome 66625 Cerebrooculonasal syndrome 1396 Cerebrorenodigital syndrome Cerebroretinal microangiopathy 313838 with calcifications and cysts →247691 Cerebroretinal vasculopathy 909 Cerebrotendinous xanthomatosis 1980 Cerebrovascular ferrocalcinosis 169079 Cernunnos deficiency 169079 Cernunnos XLFD 169079 Cernunnos-XLF deficiency 98989 Cerulean cataract 213772 Cervical adenocarcinoma 213828 Cervical adenoid basal carcinoma 213823 Cervical adenoid cystic carcinoma 213792 Cervical adenosarcoma 99079 Cervical aortic arch 213787 Cervical carcinosarcoma 141046 Cervical dermoid cyst 213837 Cervical germ cell cancer Cervical hypertrichosis-peripheral 2218 neuropathy syndrome 213807 Cervical leiomyosarcoma Cervical malignant germ cell 213837 tumor Cervical malignant Müllerian 213787 mixed tumor Cervical malignant peripheral 213812 neuroectodermal tumor 213817 Cervical papillary carcinoma 221126

ORPHA number 213812 213802 268392 268762 213767 141067 141067 3456 268397 268766 195 231573 586 2032 1340 1520 1520 2020 379 2026 2388 307766 307766 3386 436159 →1071 98979 →1071 2235 88642 88642 3282 319244 46627 1964 803 101081 101082 101083 101084 90658 101085 98856

Disease name

Cervical peripheral neuroectodermal cancer Cervical rhabdomyosarcoma Cervical spina bifida aperta Cervical spina bifida cystica Cervical squamous cell carcinoma Cervicofacial enchondroma Cervicofacial fibrochondroma Cervicooculoacoustic syndrome Cervicothoracic spina bifida aperta Cervicothoracic spina bifida cystica CES CEVD CF CFA CFC syndrome CFND CFNS CFTDM CGD CGHT ChAc CHAC syndrome CHACS Chagas disease CHAI CHAND syndrome Chandler syndrome CHANDS Chang-Davidson-Carlson syndrome Channelopathy-associated CIP Channelopathy-associated congenital insensitivity to pain Chaotic atrial tachycardia Chapare hemorrhagic fever Char syndrome Char-Douglas-Dungan syndrome Charcot disease Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2B1

ORPHA number 101101 228374 101102 300319 397968 443073 495274 64748 99948 99955 99956 363981 99949 99950 99951 99952 99953 99954 139515 391351 90120 363981 90658

90103

93114 64751 138 138 921

Disease name

Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B5 Charcot-Marie-Tooth disease type 2H Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2S Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type 6 Charcot-Marie-Tooth disease with focally folded myelin Charcot-Marie-Tooth diseasedeafness syndrome Charcot-Marie-Tooth diseasedeafness-intellectual disability syndrome Charcot-Marie-Tooth diseasenephropathy syndrome Charcot-Marie-Tooth diseasepyramidal features syndrome CHARGE association CHARGE syndrome CHARGE-like syndrome



35

ORPHA Disease name number 1496 Charlevoix disease 1406 Charlie M syndrome 168577 CHC type 2 98975 CHED1 293603 CHED2 98975 167 167 381 167 293603 1221 99647 955 812 184 3019 →672 1398 268882 1136 268882 1136 324625 90280 139 139 64280 439175 209908 439175 135 168782 293955 391497 363677

284324

497906 494541 487809 33402

CHEDI Chédiak-Higashi disease Chédiak-Higashi syndrome Chédiak-Higashi-like syndrome Chédiak-Higashi-Steinbrink syndrome CHEDII Cheilitis glandularis Cheirospondyloenchondromatosis Cheney syndrome Cherry-red spot-myoclonus syndrome Cherubism Cherubism-gingival fibromatosisintellectual disability syndrome CHHS Chiari IV malformation Chiari malformation type 1 Chiari malformation type 2 Chiari malformation type I Chiari malformation type II Chikungunya Chilblain lupus CHILD nevus CHILD syndrome Childhood absence epilepsy Childhood AIS Childhood apraxia of speech Childhood arterial ischemic stroke Childhood ataxia with diffuse central nervous system hypomyelination Childhood disintegrative disorder Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Childhood myasthenia gravis Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Childhood-onset basal ganglia degeneration syndrome Childhood-onset benign chorea with striatal involvement Childhood-onset collagenous gastritis Childhood-onset HCC


500180

171439 247667

466921 247667 101000

401866

401866 3474 2888 3218 757 86850 180 137914 137920 137917 1200 70567 480501 69663 173 79303

1414 1415 →2697 75234 79506 75234

Disease name

Childhood-onset hepatocellular carcinoma Childhood-onset hypophosphatasia Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Childhood-onset nemaline myopathy Childhood-onset phosphoethanolaminuria Childhood-onset progressive contractures-limb-girdle weaknessmuscle dystrophy syndrome Childhood-onset Rathburn disease Childhood-onset spastic paraparesis-distal muscle wasting syndrome Childhood-onset spasticity with hyperglycinemia Childhood-onset spasticity with variant non-ketotic hyperglycinemia CHIME syndrome Chitayat-Meunier-Hodgkinson syndrome Chitty-Hall-Baraitser syndrome Chloride shunt syndrome Chloroma CHM Choanal atresia Choanal atresia, bilateral Choanal atresia, unilateral Choanal atresia-hearing losscardiac defects-craniofacial dysmorphism syndrome Cholangiocarcinoma Choledochal cyst Cholelithiasis with ABCB4 gene mutation Cholera Cholestasis with delta(4)-3oxosteroid 5-beta-reductase deficiency Cholestasis-lymphedema syndrome Cholestasis-pigmentary retinopathy-cleft palate syndrome Cholestatic jaundice-renal tubular insufficiency syndrome Cholesterol ester storage disease Cholesterol-ester transfer protein deficiency Cholesteryl ester storage disease

ORPHA number 79344 79346 79347 263463 280586 3144 50945 2098 166272 1422 1422 35173 289 319195 404507 55880 444077 251674 178 2388 2388 209905

252015 251899 2807 1433 39044 180 1435 1434 94087 181 1436 85278 1808 98879

Disease name

Chondrodysplasia punctata, Sheffield type Chondrodysplasia punctata, tibialmetacarpal type Chondrodysplasia punctata, Toriello type Chondrodysplasia with congenital joint dislocations, CHST3 type Chondrodysplasia with joint dislocations, gPAPP type Chondrodysplasia with snail-like pelvis Chondrodysplasia, Blomstrand type Chondrodysplasia, Grebe type Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome Chondrodysplasia-disorder of sex development syndrome Chondrodysplasiapseudohermaphroditism syndrome Chondrodystrophia calcificans congenita Chondroectodermal dysplasia Chondroectodermal dysplasia with night blindness Chondromyxoid fibroma Chondrosarcoma CHOPS syndrome Chordoid glioma Chordoma Chorea-acanthocytosis Choreoacanthocytosis Choreoathetosis-hypothyroidismneonatal respiratory distress syndrome Choriocarcinoma of the central nervous system Choroid plexus carcinoma Choroid plexus papilloma Choroidal atrophy-alopecia syndrome Choroidal melanoma Choroideremia Choroideremia-deafness-obesity syndrome Choroideremia-hypopituitarism syndrome CHP Christ-Siemens-Touraine syndrome Christian syndrome Christianson syndrome Christianson-Fourie syndrome Christmas disease



36

ORPHA Disease name number 182 Chromoblastomycosis 182 Chromomycosis 319303 319303 3380 1445 330064 314928 99871 137817

71279

435988 435988

325004 2137 133 133 133 56425 79078 103907 314373

397606 397606 1670 2566 279891 468641 168940 2902 2566 99921 521 379 396 1451

Chromophobe renal cell adenocarcinoma Chromophobe renal cell carcinoma Chromosome 18 duplication Chromosome 21 en anneau Chronic actinic dermatitis Chronic adult hydrocephalus Chronic and localized Langerhans cell histiocytosis Chronic arachnoiditis Chronic ataxic neuropathyophthalmoplegia-IgM paraproteincold agglutinins-disialosyl antibodies syndrome Chronic atrial and intestinal dysrhythmia syndrome Chronic atrial dysrhythmiaintestinal motility disorder Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome Chronic autoimmune hepatitis Chronic berylliosis Chronic beryllium disease Chronic beryllium lung disease Chronic cold agglutinin disease Chronic dacryoadenitis and sialadenitis Chronic diarrhea due to glucoamylase deficiency Chronic diarrhea due to guanylate cyclase 2C overactivity Chronic diarrhea with hereditary sensory and autonomic neuropathy Chronic diarrhea with HSAN Chronic diarrhea with villous atrophy Chronic EBV infection syndrome Chronic endophthalmitis Chronic enteropathy associated with SLCO2A1 gene Chronic eosinophilic leukemia Chronic eosinophilic pneumonia Chronic Epstein-Barr virus infection syndrome Chronic graft versus host disease Chronic granulocytic leukemia Chronic granulomatous disease Chronic hiccup Chronic infantile neurological cutaneous articular syndrome


2932 294422 2978

284448

1334 99873 521 521 98823 86830 77261 86829 439202 439202 95426 330064 91359 499085 324964

77297

499085 217566 71279 379 83418 70591 97353 37748

Disease name

Chronic infantile spinal muscular atrophy Chronic inflammatory demyelinating polyneuropathy Chronic inflammatory demyelinating polyradiculoneuropathy Chronic intestinal failure Chronic intestinal pseudoobstruction Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids Chronic mucocutaneous candidiasis Chronic multifocal Langerhans cell histiocytosis Chronic myelogenous leukemia Chronic myeloid leukemia Chronic myelomonocytic leukemia Chronic myeloproliferative disease, unclassifiable Chronic neuronopathic Gaucher disease Chronic neutrophilic leukemia Chronic obstetric brachial plexus injury Chronic obstetric brachial plexus palsy Chronic pain requiring intraspinal analgesia Chronic photosensitivity dermatitis Chronic pneumonitis of infancy Chronic recurrent isolated optic neuritis Chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemianeutrophilic dermatosis syndrome Chronic relapsing inflammatory optic neuropathy Chronic respiratory distress with surfactant metabolism deficiency Chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies Chronic septic granulomatosis Chronic spinal muscular atrophy Chronic thromboembolic pulmonary hypertension Chronic traumatic encephalopathy Chronic urticaria with gammopathy

ORPHA number 37748 263463 2953 2953 93971 93971 314597 3068 183 238557 238557 71 1160 46486 217390 317473 445018 317476 317428 231154 443811 157949 317430 314689 231154 436252 435651 435651 2932 79394 294422 1223 2114 1451 391397 642 478664 2978 2505 69744 309854 57777 157820 247525 247585 247525

Disease name

Chronic urticaria with macroglobulinemia CHST3-related skeletal dysplasia CHST14-related EDS CHST14-related Ehlers-Danlos syndrome Chudley-Lowry syndrome Chudley-Lowry-Hoar syndrome Chudley-McCullough syndrome Chudley-Rozdilsky syndrome Churg-Strauss syndrome Chuvash erythrocytosis Chuvash polycythemia Chylomicron retention disease Chylous ascites Cicatricial pemphigoid CID due to DOCK8 deficiency CID due to IKAROS deficiency CID due to LRBA deficiency CID due to MAGT1 deficiency CID due to ORAI1 deficiency CID due to partial RAG1 deficiency CID due to PGM3 deficiency CID due to RAG 1/2 deficiency CID due to STIM1 deficiency CID due to STK4 deficiency CID with expansion of gamma delta T cells CID-MIA/early-onset IBD CIDEC-related familial partial lipodystrophy CIDEC-related FPLD CIDP CIE CIF Ciliary dysentery Cilliers-Beighton syndrome CINCA syndrome CIP with hyperhidrosis and gastrointestinal dysfunction CIP-anhidrosis syndrome CIP-hypohidrosis syndrome CIPO Circumferential skin creases, Kunze type Circumscribed palmoplantar hypokeratosis Cirrhosis-dystonia-polycythemiahypermanganesemia syndrome Cirrhotic cardiomyopathy CISS Citrullinemia type 1 Citrullinemia type 2 Citrullinemia type I



37

ORPHA Disease name number 247585 Citrullinemia type II 251383 CK syndrome 90790

CLAH

97249 CLAM 168984 CLAPO syndrome 188 Clarkson disease 466026 Class I G6PD deficiency 466026 90794 315306 315311 85138 329977 329977 93605 268145 268145 268145 247525 247546 247546 325524 90794

315306

315311

325524 93930 79239 98962 289857 98962 58017 391 391 98846 98845 98844

Class I glucose-6-phosphate dehydrogenase deficiency Classic 21-OHD CAH Classic 21-OHD CAH, salt wasting form Classic 21-OHD CAH, simple virilizing form Classic Addison's disease Classic appendiceal neuroendocrine tumor Classic appendix neuroendocrine tumor Classic Bartter syndrome Classic BCKD deficiency Classic branched-chain 2-ketoacid dehydrogenase deficiency Classic branched-chain ketoaciduria Classic citrullinemia Classic citrullinemia type 1 Classic citrullinemia type I Classic CLAH Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic congenital lipoid adrenal hyperplasia due to STAR deficency Classic exstrophy of the bladder Classic galactosemia Classic GCD Classic glycine encephalopathy Classic granular corneal dystrophy Classic hairy cell leukemia Classic Hodgkin disease Classic Hodgkin lymphoma Classic Hodgkin lymphoma, lymphocyte-depleted type Classic Hodgkin lymphoma, lymphocyte-rich type Classic Hodgkin lymphoma, mixed cellularity type

ORPHA number 98843 394 475 313 98964 268145 158796 251867 324604 268145 324604 324604 2584 329977 216866 163898

163898 93258 79254 79254 280219 240071 240071 773 18 443192 443192 3467 2272 485350 398971 404511 319276 319276 319276 457246 97338 101023 141291 199306 199306 1995

Disease name

Classic Hodgkin lymphoma, nodular sclerosis type Classic homocystinuria Classic Joubert syndrome Classic lamellar ichthyosis Classic lattice corneal dystrophy Classic maple syrup urine disease Classic mast cell leukemia Classic medulloblastoma Classic MmD Classic MSUD Classic multiminicore disease Classic multiminicore myopathy Classic mycosis fungoides Classic neuroendocrine tumor of appendix Classic pantothenate kinaseassociated neurodegeneration Classic paraneoplastic limbic encephalitis Classic paraneoplastic limbic encephalitis, with or without intracellular antigens Classic Pfeiffer syndrome Classic phenylketonuria Classic PKU Classic PMD Classic progressive supranuclear palsy syndrome Classic PSP syndrome Classic Refsum disease Classic RTA Classic SPS Classic stiff person syndrome Classic xanthinuria Clayton Smith-Donnai syndrome CLCN4-related X-linked intellectual disability syndrome Clear cell adenocarcinoma of the ovary Clear cell papillary renal cell carcinoma Clear cell renal carcinoma Clear cell renal cell adenocarcinoma Clear cell renal cell carcinoma Clear cell sarcoma of kidney Clear cell sarcoma of the tendons and aponeuroses Cleft hard palate Cleft lip and alveolus Cleft lip and palate Cleft lip-alveolus-palate syndrome Cleft lip-cone rod dystrophy syndrome

ORPHA number 3429 1995 1995 199306 888 2319 2003 3253 →1896 2328 2001 3253 95465 141242 2008 921 2013 2016

2167

2015 2010 99772 99772 99772 1997 1452 1452 3472 1453 284448 228329 228349 228346

Disease name

Cleft lip-limb and heart malformations syndrome Cleft lip-progressive retinopathy syndrome Cleft lip-retinopathy syndrome Cleft lip/palate Cleft lip/palate with mucous cysts of lower lip Cleft lip/palate-abnormal thumbsmicrocephaly syndrome Cleft lip/palate-deafness-sacral lipoma syndrome Cleft lip/palate-ectodermal dysplasia syndrome Cleft lip/palate-ectrodactyly syndrome Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome Cleft lip/palate-intestinal malrotation-cardiopathy syndrome Cleft lip/palate-syndactyly-pili torti syndrome Cleft mitral valve Cleft nose Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome Cleft palate-coloboma-deafness syndrome Cleft palate-large ears-small head syndrome Cleft palate-lateral synechia syndrome Cleft palate-Potter sequencecongenital heart anomaliesmesoaxial polydactyly-multiple malformations syndrome Cleft palate-short staturevertebral anomalies syndrome Cleft palate-stapes fixationoligodontia syndrome Cleft soft palate Cleft velum Cleft velum palatinum Clefting-ectropion-conical teeth syndrome Cleidocranial dysostosis Cleidocranial dysplasia Cleidocranial dysplasiamicrognathia-absent thumbs syndrome Cleidorhizomelic syndrome CLIPPERS CLN1 disease CLN2 disease CLN3 disease



38

ORPHA Disease name number 228340 CLN4A disease 228343 CLN4B disease 228360 CLN5 disease 228363 CLN6 disease 228366 CLN7 disease 228354 CLN8 disease

CLN8 disease, Northern epilepsy 1947 variant 228357 CLN9 disease 228337 CLN10 disease 314629 CLN11 disease 314632 CLN12 disease 352709 CLN13 disease 93929 Cloacal exstrophy Clonal hypereosinophilic 314950 syndrome 221083 Clonic hemifacial spasm 268366 Closed iniencephaly 189 Clouston syndrome Cloverleaf skull-asphyxiating 100978 thoracic dysplasia syndrome Cloverleaf skull-micromelic bone 93274 dysplasia syndrome Cloverleaf skull-multiple 93267 congenital anomalies syndrome 140944 CLOVES syndrome CLP1-related pontocerebellar 411493 hypoplasia 3253 CLPED1 192 CLS 85136 CLWM 137667 CM-AVM 289504 CMAMMA 1334 CMC 258 CMD1A 98893 CMD1B →370953 CMD1C 370959 CMD with cerebellar involvement 370968 CMD with intellectual disability CMD with intellectual disability 329178 and severe epilepsy 370980 CMD without intellectual disability 370959 CMD-CRB 370968 CMD-MR 370980 CMD-no MR 371007 CMDH 521 CML 98823 CMML 252202 CMMR-D syndrome 99763 CMO I 99763 CMO II CMP-sialic acid transporter 238459 deficiency 86830 CMPD-U

ORPHA number 71 CMRD 590 CMS

Disease name

101081 CMT1A 101082 CMT1B 101083 CMT1C 101084 CMT1D 90658 CMT1E

ORPHA number 391351 CMT4K 101078 CMT4X 99014

CMT5X

90120 CMT6 352675 CMT6X 1556

CMTC

101085 CMT1F 101075 CMT1X

100043 CMTDIA 100044 CMTDIB 100045 CMTDIC

487814 CMT2 due to DGAT2 mutation 324611 CMT2 due to KIF5A mutation 435819 CMT2 due to TFG mutation

100046 CMTDID 93114 CMTDIE 352670 CMTDIF

435387 CMT2 due to VCP mutation 401964 CMT2 with giant axons

101075 CMTX1 101076 CMTX2

99946 99947

101077 CMTX3 101078 CMTX4

99936 99937 99938 99939 99940 99941 101102 99942 99943 99944 99945 228179 228174 284232 300319 329258 397968 443073 495274 397735 447964 488333 466775 435387 466768 101077 99948 99955 99956 363981 99949 99950 99951 99952 99953 99954 139515

CMT2A1 CMT2A2 CMT2B CMT2C CMT2D CMT2E CMT2F CMT2G CMT2H CMT2I CMT2J CMT2K CMT2L CMT2M CMT2N CMT2O CMT2P CMT2Q CMT2R CMT2S CMT2T CMT2U CMT2V CMT2W CMT2X CMT2Y CMT2Z CMT3X CMT4A CMT4B1 CMT4B2 CMT4B3 CMT4C CMT4D CMT4E CMT4F CMT4G CMT4H CMT4J

Disease name

99014

CMTX5

352675 CMTX6 468635 CMUSE

CMV disease in patients with 137698 impaired cell mediated immunity

deemed at risk 319160 CNM4 306686 CO-induced parkinsonism 1454 COACH syndrome 1456 397725 190 313838 79282 79283 79284 369955 53721 352682

352682 1911 90068 228123 228123 3233 191 90321 90322 90324 90321 90322

Coarctation of the abdominal aorta COASY protein-associated neurodegeneration Coats disease Coats plus syndrome Cobalamin C defect Cobalamin D defect Cobalamin F defect Cobalamin J defect Cobb syndrome Cobblestone lissencephaly without muscular or eye involvement Cobblestone lissencephaly without muscular or ocular involvement Cocaine embryofetopathy Cocaine intoxication Coccidioides infection Coccidioidomycosis Cochleosaccular degenerationcataract syndrome Cockayne syndrome Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne syndrome type I Cockayne syndrome type II



39

ORPHA Disease name number 90324 Cockayne syndrome type III 1458 CODAS syndrome 192 1465 1466 263508 435934 435934 263501 263487 464443 79333 95428 98956 1467 98980

444077

193 2969 79144 79144 36383 36383

36383

31824 56425 56425 157820 324561 2050 84087 84087 247203 2412 98942 98943 98946 155889 98944 98945 1471 98947

Coffin-Lowry syndrome Coffin-Siris syndrome COFS syndrome COG1-CDG COG2-CDG COG2-related congenital disorder of glycosylation COG4-CDG COG5-CDG COG6-CGD COG7-CDG COG8-CDG Cogan microcystic epithelial dystrophy Cogan syndrome Cogan-Reese syndrome Cognitive impairment-coarse facies-heart defects-obesitypulmonary involvement-short stature-skeletal dysplasia syndrome Cohen syndrome Cohen-Hayden syndrome COIF COIF syndrome COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesisautosomal dominant leukoencephalopathy syndrome Colchicine poisoning Cold agglutinin disease Cold agglutinin syndrome Cold-induced sweating syndrome Cole disease Cole-Carpenter syndrome Collagen type III glomerulopathy Collagenofibrotic glomerulopathy Collecting duct carcinoma Collins-Pope syndrome Coloboma of choroid and retina Coloboma of eye lens Coloboma of eyelid Coloboma of inferior eyelid Coloboma of iris Coloboma of macula Coloboma of maculabrachydactyly type B syndrome Coloboma of optic disc

ORPHA number 1475 98947 155884

3474

138

468672 98938 363741

424099

435930

→138 1198 100080 16 83595 83595 83595 733 261584 90793 734

445062 370114 356978

356978

26

Disease name

Coloboma of optic nerve with renal disease Coloboma of optic papilla Coloboma of superior eyelid Coloboma-congenital heart disease-ichthyosiform dermatosisintellectual disability-ear anomalies syndrome Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome Colobomatous macrophthalmiamicrocornea syndrome Colobomatous microphthalmia Colobomatous microphthalmiaobesity-hypogenitalism-intellectual disability syndrome Colobomatous microphthalmiarhizomelic dysplasia syndrome Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Colobomatous-microphthalmiaheart disease-hearing loss syndrome Colonic atresia Colonic NET Color blindness, blue monocone monochromatic type Colorado tick encephalitis Colorado tick fever Colorado tick-borne disease Colorectal adenomatous polyposis Colorectal adenomatous polyposis due to monosomy 5q22.2 Combined 17-hydroxylase/17,20lyase deficiency Combined alpha-delta platelet storage pool deficiency Combined cerebellar and peripheral ataxia-hearing lossdiabetes mellitus syndrome Combined cervical dystonia Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria Combined defect in adenosylcobalamin and methylcobalamin synthesis

ORPHA number

79282

79283

79284

369955

369962

35909

99732

308386

308393

308400

440727

440727 221078 169082 169090

217390

217390 317473 445018 317476

Disease name

Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX Combined deficiency of factor V and factor VIII Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C Combined hamartoma of the retina and retinal pigment epithelium Combined hamartoma of the retina and RPE Combined hyperactive dysfunction syndrome of the cranial nerves Combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency Combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to IKAROS deficiency Combined immunodeficiency due to LRBA deficiency Combined immunodeficiency due to MAGT1 deficiency



40

ORPHA number 397964 317428 431149 231154 443811 157949 317430 314689 911 431149 231154 221139 39041 431149

431149

157949

228423

436252

169079

1979

289504 289504 254920 254925 137908

Disease name

Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency due to PGM3 deficiency Combined immunodeficiency due to RAG 1/2 deficiency Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency with childhood-onset Kaposi sarcoma Combined immunodeficiency with expansion of gamma delta T cells Combined immunodeficiency with faciooculoskeletal anomalies Combined immunodeficiency with hypereosinophilia Combined immunodeficiency with impaired immunity to HHV-8 Combined immunodeficiency with impaired immunity to human herpes virus 8 Combined immunodeficiency with skin granulomas Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections Combined immunodeficiencyenteropathy spectrum Combined immunodeficiencymicrocephaly-growth retardationsensitivity to ionizing radiation syndrome Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency Combined malonic and methylmalonic acidemia Combined malonic and methylmalonic aciduria Combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 4 Combined oxidative phosphorylation defect type 5

ORPHA number 254930 319504 319509 314637 324535 314051 319514 319519 319524 352563 369913 420728 420733 444013 444458 447954 477684 477774 466784 478029 478042 309111 95494 139406 300564 166286 141276 141061 3384 3384 1329 →288

Disease name

Combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 10 Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 12 Combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 14 Combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 16 Combined oxidative phosphorylation defect type 17 Combined oxidative phosphorylation defect type 20 Combined oxidative phosphorylation defect type 21 Combined oxidative phosphorylation defect type 23 Combined oxidative phosphorylation defect type 24 Combined oxidative phosphorylation defect type 25 Combined oxidative phosphorylation defect type 26 Combined oxidative phosphorylation defect type 27 Combined oxidative phosphorylation defect type 28 Combined oxidative phosphorylation defect type 29 Combined oxidative phosphorylation defect type 30 Combined pancreatic lipasecolipase deficiency Combined pituitary hormone deficiencies, genetic forms Combined prosaposin deficiency Combined pulmonary fibrosisemphysema syndrome Comedo nevus of the palm Commissural facial cleft Commissural lip fistula Common aorticopulmonary trunk Common arterial trunk Common atrioventricular canal Common hereditary elliptocytosis

ORPHA Disease name number 620 Common mesentery 1572

280821

280133 99429 99429 1329 99066 99067 99068 99066 99068 99067 1329 98949 289916 633 254688 79293 29 254688 49382 180126 101063 101063 180074 180074 457378

457378 83452 99995 99994

Common variable immunodeficiency Communicating congenital bronchopulmonary-foregut malformation Complement component 3 deficiency Complete androgen insensitivity syndrome Complete androgen resistance syndrome Complete atrioventricular canal Complete atrioventricular canal type A Complete atrioventricular canal type B Complete atrioventricular canal type C Complete atrioventricular canalleft heart obstruction syndrome Complete atrioventricular canaltetralogy of Fallot syndrome Complete atrioventricular canalventricle hypoplasia syndrome Complete atrioventricular septal defect Complete cryptophthalmia Complete deficiency of methylmalonyl-CoA mutase Complete growth hormone insensitivity Complete hydatidiform mole Complete LCAT deficiency Complete mevalonate kinase deficiency Complete molar pregnancy Complete or incomplete color blindness Complete septate uterus Complete situs inversus Complete situs inversus viscerum Complete unilateral aplasia of the Müllerian ducts Complete unilateral Müllerian aplasia Complex lethal osteochondrodysplasia Complex lethal osteochondrodysplasia, SymoensBarnes-Gistelinck type Complex regional pain syndrome Complex regional pain syndrome type 1 Complex regional pain syndrome type 2



41

ORPHA number 306644 268316 458758 168966 168966 634 228165 383 3216 3236 3216 1871 209932 209932 209932 209932 1872 1873 221142 440233 294979 295095 295093 294981 295099 295097 289465 294986 295107 295105 294983 295103 295101

Disease name

Complication after organ transplantation Complication in hemodialysis Composite hemangioendothelioma Composite Hodgkin and nonHodgkin lymphoma Composite lymphoma Comèl-Netherton syndrome Concentric demyelination Conductive deafness with stapes fixation Conductive deafness-malformed external ear syndrome Conductive deafness-ptosisskeletal anomalies syndrome Conductive hearing lossmalformed external ear syndrome Cone dystrophy Cone dystrophy with supernormal rod electroretinogram Cone dystrophy with supernormal rod ERG Cone dystrophy with supernormal rod response Cone dystrophy with supernormal scotopic electroretinogram Cone rod dystrophy Cone rod dystrophy-amelogenesis imperfecta syndrome Confetti-like macular atrophy Congenital abducens nerve palsy Congenital absence of both forearm and hand Congenital absence of both forearm and hand, bilateral Congenital absence of both forearm and hand, unilateral Congenital absence of both lower leg and foot Congenital absence of both lower leg and foot, bilateral Congenital absence of both lower leg and foot, unilateral Congenital absence of fingerprints Congenital absence of foot Congenital absence of foot, bilateral Congenital absence of foot, unilateral Congenital absence of hand Congenital absence of hand, bilateral Congenital absence of hand, unilateral

ORPHA number 86815 217399 453510 495879 294977

295091

295089 93322 435623 295118 295116 2879 294975

295087

295085

247775 96269 294990 295114 973 294988 295112 295110 324353 93583 90791

90795

Disease name

Congenital absence of lacrimal puncta and salivary glands Congenital absence of pain with hyperhidrosis Congenital absence of pain with severe intellectual disability Congenital absence of the scrotum Congenital absence of thigh and lower leg with foot present Congenital absence of thigh and lower leg with foot present, bilateral Congenital absence of thigh and lower leg with foot present, unilateral Congenital absence of tibia Congenital absence of toes Congenital absence of toes, bilateral Congenital absence of toes, unilateral Congenital absence of ulna and fibula Congenital absence of upper arm and forearm with hand present Congenital absence of upper arm and forearm with hand present, bilateral Congenital absence of upper arm and forearm with hand present, unilateral Congenital absence of uterus and vagina Congenital absence of vagina Congenital absence/hypoplasia of fingers excluding thumb Congenital absence/hypoplasia of fingers excluding thumb, bilateral Congenital absence/hypoplasia of fingers excluding thumb, unilateral Congenital absence/hypoplasia of thumb Congenital absence/hypoplasia of thumb, bilateral Congenital absence/hypoplasia of thumb, unilateral Congenital achiasma Congenital ADAMTS-13 deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

ORPHA number

Disease name

Congenital adrenal hyperplasia 90793 due to 17-alpha-hydroxylase

95699

95699

495875

495879 33355 79 210122 3319 3319 488586 86816 217399 453510 95507 91489 95449 3093 2037 2037 2037 93322

2926

353334 353334 1195 60041

deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome POR deficiency Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophyfacial dysmorphism syndrome Congenital agenesis of the scrotum Congenital aleukocytosis Congenital alpha2-antiplasmin deficiency Congenital alveolar capillary dysplasia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenic purpura Congenital amyoplasia Congenital analbuminemia Congenital analgesia with hyperhidrosis Congenital analgesia with severe intellectual disability Congenital anomaly of hepatic vein Congenital anterior megalophthalmia Congenital aortic valve insufficiency Congenital aortic valve stenosis Congenital aortopulmonary artery fistula Congenital aortopulmonary septal defect Congenital aortopulmonary window Congenital aplasia and dysplasia of the tibia with intact fibula Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy Congenital arteriovenous anastomoses of the retina Congenital arteriovenous communication of the retina Congenital atransferrinemia Congenital atrioventricular block



42

ORPHA number

Disease name

Congenital auditory ossicle 162526 malformation without external ear 1216 48 48 48 93177 79301 79303 79302 79095 2292 71278 2040 3161 289499

300313

300313

1369

464738

330054

330054

48431

661

99803 831

abnormality Congenital benign spinal muscular atrophy with contractures Congenital bilateral absence of vas deferens Congenital bilateral agenesis of vas deferens Congenital bilateral aplasia of vas deferens Congenital bilateral megacalycosis Congenital bile acid synthesis defect type 1 Congenital bile acid synthesis defect type 2 Congenital bile acid synthesis defect type 3 Congenital bile acid synthesis defect type 4 Congenital bowing of long bones Congenital brain dysgenesis due to glutamine synthetase deficiency Congenital bronchobiliary fistula Congenital bronchopulmonary sequestration Congenital cataract microcornea with corneal opacity Congenital cataract-deafnesssevere developmental delay syndrome Congenital cataract-hearing losssevere developmental delay syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital cataract-microcephalynevus flammeus simplex-severe intellectual disability syndrome Congenital cataract-progressive muscular hypotonia-deafnessdevelopmental delay syndrome Congenital cataract-progressive muscular hypotonia-hearing lossdevelopmental delay syndrome Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital central alveolar hypoventilation syndrome Congenital central alveolar hypoventilation-Hirschsprung disease syndrome Congenital cervical spinal stenosis

ORPHA number 2345 53689 329242 329242 264688 2505 91413 440221 98686 440233 269505 99129 115 178382 178382 53691 95491 2444 280827 280832 280840 280847 280854 2444 280827 280832 280840 280847 280854 480501 2444 280832

Disease name

Congenital cervical vertebral fusion Congenital chloride diarrhea Congenital chronic diarrhea with exudative enteropathy Congenital chronic diarrhea with protein-losing enteropathy Congenital chylothorax Congenital circumferential skin folds Congenital Claude-Bernard-Horner syndrome Congenital CNIII lesion Congenital CNIV palsy Congenital CNVI palsy Congenital communicating hydrocephalus Congenital complete agenesis of pericardium Congenital contractural arachnodactyly Congenital convex foot Congenital convex pes valgus Congenital cornea plana Congenital coronary artery aneurysm Congenital cystic adenomatoid malformation of the lung Congenital cystic adenomatoid malformation of the lung type 0 Congenital cystic adenomatoid malformation of the lung type 1 Congenital cystic adenomatoid malformation of the lung type 2 Congenital cystic adenomatoid malformation of the lung type 3 Congenital cystic adenomatoid malformation of the lung type 4 Congenital cystic adenomatous malformation of the lung Congenital cystic adenomatous malformation of the lung type 0 Congenital cystic adenomatous malformation of the lung type 1 Congenital cystic adenomatous malformation of the lung type 2 Congenital cystic adenomatous malformation of the lung type 3 Congenital cystic adenomatous malformation of the lung type 4 Congenital cystic dilatation of the biliary tract Congenital cystic disease of the lung Congenital cystic disease of the lung type 1

ORPHA number 280840 280847 168612 2140 488635

3474

83639

280633

369837

79318 79319 79320 79321 79322 79323 79324 79325 79326 86309 79327 79328 91131 244310 263494 280071 324737

Disease name

Congenital cystic disease of the lung type 2 Congenital cystic disease of the lung type 3 Congenital deficiency in alphafetoprotein Congenital diaphragmatic hernia Congenital disorder of glycosylation due to PIGG deficiency Congenital disorder of glycosylation due to PIGL deficiency Congenital disorder of glycosylation due to PIGM deficiency Congenital disorder of glycosylation due to PIGN deficiency Congenital disorder of glycosylation due to PIGT deficiency Congenital disorder of glycosylation type 1a Congenital disorder of glycosylation type 1b Congenital disorder of glycosylation type 1c Congenital disorder of glycosylation type 1d Congenital disorder of glycosylation type 1e Congenital disorder of glycosylation type 1f Congenital disorder of glycosylation type 1g Congenital disorder of glycosylation type 1h Congenital disorder of glycosylation type 1i Congenital disorder of glycosylation type 1j Congenital disorder of glycosylation type 1k Congenital disorder of glycosylation type 1L Congenital disorder of glycosylation type 1m Congenital disorder of glycosylation type 1n Congenital disorder of glycosylation type 1o Congenital disorder of glycosylation type 1p Congenital disorder of glycosylation type 1q



43

ORPHA number 300536 324422 329178 370921 370924 370927 448010

397941

79329 79330 79332 79333 238459 263508 95428 263487 263501 314667 464443 356961 468699 468684 466703 79318 79319 79320 79321

Disease name

Congenital disorder of glycosylation type 1r Congenital disorder of glycosylation type 1s Congenital disorder of glycosylation type 1u Congenital disorder of glycosylation type 1w Congenital disorder of glycosylation type 1x Congenital disorder of glycosylation type 1y Congenital disorder of glycosylation type 1z Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency Congenital disorder of glycosylation type 2a Congenital disorder of glycosylation type 2b Congenital disorder of glycosylation type 2d Congenital disorder of glycosylation type 2e Congenital disorder of glycosylation type 2f Congenital disorder of glycosylation type 2g Congenital disorder of glycosylation type 2h Congenital disorder of glycosylation type 2i Congenital disorder of glycosylation type 2j Congenital disorder of glycosylation type 2k Congenital disorder of glycosylation type 2l Congenital disorder of glycosylation type 2m Congenital disorder of glycosylation type 2n Congenital disorder of glycosylation type 2o Congenital disorder of glycosylation type 2p Congenital disorder of glycosylation type Ia Congenital disorder of glycosylation type Ib Congenital disorder of glycosylation type Ic Congenital disorder of glycosylation type Id

ORPHA number 79322 79323 79324 79325 79326

397941

79329 79330 79332 79333 238459 263508 95428 263487 263501 314667 464443 356961 468699 468684 466703 86309 79327 91131 244310 263494 280071

Disease name

Congenital disorder of glycosylation type Ie Congenital disorder of glycosylation type If Congenital disorder of glycosylation type Ig Congenital disorder of glycosylation type Ih Congenital disorder of glycosylation type Ii Congenital disorder of glycosylation type II due to MAN1B1 deficiency Congenital disorder of glycosylation type IIa Congenital disorder of glycosylation type IIb Congenital disorder of glycosylation type IId Congenital disorder of glycosylation type IIe Congenital disorder of glycosylation type IIf Congenital disorder of glycosylation type IIg Congenital disorder of glycosylation type IIh Congenital disorder of glycosylation type IIi Congenital disorder of glycosylation type IIj Congenital disorder of glycosylation type IIk Congenital disorder of glycosylation type IIL Congenital disorder of glycosylation type IIm Congenital disorder of glycosylation type IIn Congenital disorder of glycosylation type IIo Congenital disorder of glycosylation type IIp Congenital disorder of glycosylation type Ij Congenital disorder of glycosylation type Ik Congenital disorder of glycosylation type Im Congenital disorder of glycosylation type In Congenital disorder of glycosylation type Io Congenital disorder of glycosylation type Ip

ORPHA number 324737 300536 324422 329178 370921 370924 370927 293825 98869 98873 98870 293825 98869 98873 98870 293825 67044 70596 91491 295227 295225 103910 168601 168601 292 70596 157826 231573

231573

Disease name

Congenital disorder of glycosylation type Iq Congenital disorder of glycosylation type Ir Congenital disorder of glycosylation type Is Congenital disorder of glycosylation type Iu Congenital disorder of glycosylation type Iw Congenital disorder of glycosylation type Ix Congenital disorder of glycosylation type Iy Congenital dyserythropoietic anemia due to KLF1 mutation Congenital dyserythropoietic anemia type 1 Congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type 3 Congenital dyserythropoietic anemia type 4 Congenital dyserythropoietic anemia type I Congenital dyserythropoietic anemia type II Congenital dyserythropoietic anemia type III Congenital dyserythropoietic anemia type IV Congenital dyserythropoietic anemia with thombocytopenia Congenital EBV infection Congenital ectropion uveae Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital enterocyte heparan sulfate deficiency Congenital enterokinase deficiency Congenital enteropathy due to enteropeptidase deficiency Congenital enterovirus infection Congenital Epstein-Barr virus infection Congenital epulis Congenital erosive and vesicular dermatosis Congenital erosive and vesicular dermatosis with reticulated supple scarring



44

ORPHA number 90042

369992

79277 91358 91358 215 91 280811 99176 570 325 326 327 328 329 330 331 2020 335 45358 90045 98686 2345

476406

2026 1023 79495 295232 295229 99095 157826 98976 157826 330 60041 1355

Disease name

Congenital erythrocytosis due to erythropoietin receptor mutation Congenital erythrodermahypotrichosis-recurrent infectionsmultiple food allergies syndrome Congenital erythropoietic porphyria Congenital esophageal diverticulum Congenital esophageal pouch Congenital essential nyctalopia Congenital estrogen deficiency Congenital extrapulmonary sequestration Congenital eyelid retraction Congenital facial diplegia Congenital factor II deficiency Congenital factor V deficiency Congenital factor VII deficiency Congenital factor X deficiency Congenital factor XI deficiency Congenital factor XII deficiency Congenital factor XIII deficiency Congenital fiber-type disproportion myopathy Congenital fibrinogen deficiency Congenital fibrosis of extraocular muscles Congenital folate malabsorption Congenital fourth cranial nerve palsy Congenital fused cervical segments Congenital generalized hypercontractile muscle stiffness syndrome Congenital generalized hypertrichosis terminalis Congenital generalized hypertrichosis, Ambras type Congenital generalized hypertrichosis, Macias-Flores type Congenital genu flexum Congenital genu recurvatum Congenital Gerbode defect Congenital gingival cell tumor Congenital glaucoma Congenital granular cell tumor Congenital Hageman factor deficiency Congenital heart block Congenital heart defect-round face-developmental delay syndrome

ORPHA number 139

98975 293603 98975 293603 306530 306530 306530

306530

306530

101068 293 483 91413 2185 2190 478 124 →672

226313

95715 1195 →113 88621 352333

352333

Disease name

Congenital hemidysplasia with ichthyosiform nevus and limbs defects Congenital hereditary endothelial dystrophy type 1 Congenital hereditary endothelial dystrophy type 2 Congenital hereditary endothelial dystrophy type I Congenital hereditary endothelial dystrophy type II Congenital hereditary facial palsy with variable deafness Congenital hereditary facial palsy with variable hearing loss Congenital hereditary facial paralysis with variable deafness Congenital hereditary facial paralysis-variable deafness syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hereditary stromal dystrophy Congenital herpes simplex virus infection Congenital high-molecular-weight kininogen deficiency Congenital Horner syndrome Congenital hydrocephalus Congenital hydronephrosis Congenital hypogonadotropic hypogonadism with anosmia Congenital hypoplastic anemia, Blackfan-Diamond type Congenital hypothalamic hamartoma syndrome Congenital hypothyroidism due to maternal intake of antithyroid drugs Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies Congenital hypotransferrinemia Congenital hypotrichosis-milia syndrome Congenital ichthyosis type 4 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

ORPHA number 2271

2271 631 231662 231671 231679 231692 306504 217399 64752 217399

391397

453510

453510

453510

642 478664

306504 388 280802 1229 332 199296 631 231662 231671 231679 231692 631

Disease name

Congenital ichthyosismicrocephalus-quadriplegia syndrome Congenital ichthyosismicrocephalus-tetraplegia syndrome Congenital IGHD Congenital IGHD type IA Congenital IGHD type IB Congenital IGHD type II Congenital IGHD type III Congenital ILNEB syndrome Congenital indifference to pain with hyperhidrosis Congenital insensitivity to pain and thermal analgesia Congenital insensitivity to pain with hyperhidrosis Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction Congenital insensitivity to pain with preserved temperature sensation Congenital insensitivity to pain with severe intellectual disability Congenital insensitivity to pain with severe non-progressive cognitive delay Congenital insensitivity to painanhidrosis syndrome Congenital insensitivity to painhypohidrosis syndrome Congenital interstitial lung disease-nephrotic syndromeepidermolysis bullosa syndrome Congenital intestinal aganglionosis Congenital intrapulmonary sequestration Congenital intrauterine infectionlike syndrome Congenital intrinsic factor deficiency Congenital isolated ACTH deficiency Congenital isolated GH deficiency Congenital isolated GH deficiency type IA Congenital isolated GH deficiency type IB Congenital isolated GH deficiency type II Congenital isolated GH deficiency type III Congenital isolated growth hormone deficiency



45

ORPHA number 231662 231671 231679 231692 295034

495875

53690 70472 313 99872 141124 137932 2374 2373 1954 210163 93937 90790

140944

140944

1928 1928 768 93323 93321 93322 93320 2430 95430 83620 93109 280671

Disease name

Congenital isolated growth hormone deficiency type IA Congenital isolated growth hormone deficiency type IB Congenital isolated growth hormone deficiency type II Congenital isolated growth hormone deficiency type III Congenital knee dislocation Congenital labioscrotal agenesiscerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Congenital lactase deficiency Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital lamellar ichthyosis Congenital Langerhans cell histiocytosis Congenital laryngeal cyst Congenital laryngeal palsy Congenital laryngeal web Congenital laryngomalacia Congenital lethal erythroderma Congenital lethal myopathy, Compton-North type Congenital limb amputation Congenital lipoid adrenal hyperplasia due to STAR deficency Congenital lipomatous overgrowth-vascular malformation-epidermal neviskeletal anomaly syndrome Congenital lipomatous overgrowth-vascular malformation-epidermal nevispinal anomaly syndrome Congenital lobar emphysema Congenital lobar hyperinflation Congenital long QT syndrome Congenital longitudinal deficiency of the fibula Congenital longitudinal deficiency of the radius Congenital longitudinal deficiency of the tibia Congenital longitudinal deficiency of the ulna Congenital macroglossia Congenital major airway collapse Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Congenital megacalycosis Congenital megaconial myopathy

ORPHA number

Disease name

Congenital membranous nephropathy due to maternal anti69063 neutral endopeptidase alloimmunization 2665 Congenital mesoblastic nephroma 621 Congenital methemoglobinemia Congenital microcephaly-severe 391376 encephalopathy-progressive cerebral atrophy syndrome 566 Congenital microcoria 199293 Congenital microgastria 2290 Congenital microvillous atrophy 2290 Congenital microvillus atrophy 566 Congenital miosis 99057 Congenital mitral stenosis Congenital multicore myopathy 98905 with external ophthalmoplegia Congenital muscular dystrophy 258 due to laminin alpha2 deficiency Congenital muscular dystrophy 157973 due to LMNA mutation Congenital muscular dystrophy 280671 due to phosphatidylcholine biosynthesis defect Congenital muscular dystrophy 258 type 1A Congenital muscular dystrophy 98893 type 1B Congenital muscular dystrophy →370953 type 1C Congenital muscular dystrophy →370953 type 1D Congenital muscular dystrophy 370959 with cerebellar involvement Congenital muscular dystrophy 371007 with hyperlaxity Congenital muscular dystrophy 34520 with integrin alpha-7 deficiency Congenital muscular dystrophy 370968 with intellectual disability Congenital muscular dystrophy 329178 with intellectual disability and severe epilepsy Congenital muscular dystrophy 34520 with ITGA7 deficiency Congenital muscular dystrophy 280671 with mitochondrial structural abnormalities Congenital muscular dystrophy 370980 without intellectual disability Congenital muscular dystrophy, 486815 Davignon-Chauveau type Congenital muscular dystrophy, 272 Fukuyama type Congenital muscular dystrophy, 75840 Ullrich type

ORPHA number 1875

486815

590 353327 98904 319160 424107 199329 168572 289380 831

162521 168486 306504 443988 839

306504

306504

168486

369852

369852

79394 269510 269505 1216

Disease name

Congenital muscular dystrophyinfantile cataract-hypogonadism syndrome Congenital muscular dystrophyrespiratory failure-skin abnormalities-joint hyperlaxity syndrome Congenital myasthenic syndrome Congenital myasthenic syndromes with glycosylation defect Congenital myopathy with excess of thin filaments Congenital myopathy with internal nuclei and atypical cores Congenital myopathy with myasthenic-like onset Congenital myopathy, Paradas type Congenital myopathy-cleft palatemalignant hyperthermia syndrome Congenital myosclerosis, Löwenthal type Congenital narrowing of cervical spinal canal Congenital nasal pyriform aperture stenosis with holoprosencephaly Congenital NCL Congenital NEP syndrome Congenital nephrosis-cerebral ventriculomegaly syndrome Congenital nephrotic syndrome, Finnish type Congenital nephrotic syndromeepidermolysis bullosa-pulmonary disease syndrome Congenital nephrotic syndromeinterstitial lung diseaseepidermolysis bullosa syndrome Congenital neuronal ceroid lipofuscinosis Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome Congenital neutropeniamyelofibrosis-nephromegaly syndrome Congenital non-bullous ichthyosiform erythroderma Congenital non-communicating hydrocephalus Congenital non-obstructive hydrocephalus Congenital nonprogressive spinal muscular atrophy



46

ORPHA number 208513 269510 440221 79144 157713

2772 465 2805 313906 139414 264675 99130 99124 295036 295237 295234 99072 332 626 465 2907 90042 480531 480531 124 749 83461 79452 617 617 238654

238646 238650 327

Disease name

Congenital nonprogressive spinocerebellar ataxia Congenital obstructive hydrocephalus Congenital oculomotor nerve palsy Congenital onychodysplasia of the index fingers Congenital or early infantile CACH syndrome Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Congenital PAI-1 deficiency Congenital pancreatic agenesis Congenital pancreatic cyst Congenital panfollicular nevus Congenital PAP Congenital partial agenesis of pericardium Congenital partial pulmonary venous return anomaly Congenital patella dislocation Congenital patella dislocation, bilateral Congenital patella dislocation, unilateral Congenital patent ductus arteriosus aneurysm Congenital pernicious anemia Congenital pigmented nevus Congenital plasminogen activator inhibitor type 1 deficiency Congenital poikiloderma with bullae, Weary type Congenital polycythemia due to erythropoietin receptor mutation Congenital portosystemic shunt Congenital portosystemic venous fistula Congenital PRCA Congenital prekallikrein deficiency Congenital primary aphakia Congenital primary lymphedema Congenital primary megalo-ureter Congenital primary megaureter Congenital primary megaureter, nonrefluxing and unobstructed form Congenital primary megaureter, obstructed form Congenital primary megaureter, refluxing form Congenital proconvertin deficiency

ORPHA number 66630 295020 295022 157808 295024 295018 295026 66630 295020 295022 157808 295024 295018 295026 91411 2444 280827 280832 280840 280847 280854 264675 2414 3161 3189 3188 185 124 3269 97598

Disease name

Congenital pseudarthrosis of the clavicle Congenital pseudarthrosis of the femur Congenital pseudarthrosis of the fibula Congenital pseudarthrosis of the limbs Congenital pseudarthrosis of the radius Congenital pseudarthrosis of the tibia Congenital pseudarthrosis of the ulna Congenital pseudoarthrosis of the clavicle Congenital pseudoarthrosis of the femur Congenital pseudoarthrosis of the fibula Congenital pseudoarthrosis of the limbs Congenital pseudoarthrosis of the radius Congenital pseudoarthrosis of the tibia Congenital pseudoarthrosis of the ulna Congenital ptosis Congenital pulmonary airway malformation Congenital pulmonary airway malformation type 0 Congenital pulmonary airway malformation type 1 Congenital pulmonary airway malformation type 2 Congenital pulmonary airway malformation type 3 Congenital pulmonary airway malformation type 4 Congenital pulmonary alveolar proteinosis Congenital pulmonary lymphangiectasia Congenital pulmonary sequestration Congenital pulmonary valve stenosis Congenital pulmonary veins atresia or stenosis Congenital pulmonary venolobar syndrome Congenital pure red cell aplasia Congenital radioulnar synostosis Congenital renal artery stenosis

ORPHA number 97598 281190 353334 353334 91495 190 178382 290 974 974 495879 495879 2301 1987 295030 93400 260305

369861

263435 103908 94068 215 75382 831 99122 99122 99122 3197 101068 328 141121 35122

306446

Disease name

Congenital renovascular hypoplasia Congenital reticular ichthyosiform erythroderma Congenital retinal arteriovenous anastomoses Congenital retinal arteriovenous communication Congenital retinal detachment Congenital retinal telangiectasia Congenital rocker-bottom foot Congenital rubella syndrome Congenital scalp defects with distal limb anomalies Congenital scalp defects with distal limb reduction anomalies Congenital scrotal absence Congenital scrotal agenesis Congenital short bowel syndrome Congenital short femur Congenital shoulder dislocation Congenital sialidosis type 2 Congenital sideroblastic anemia Congenital sideroblastic anemia-Bcell immunodeficiency-periodic fever-developmental delay syndrome Congenital smooth muscle hamartoma Congenital sodium diarrhea Congenital spondyloepiphyseal dysplasia Congenital stationary night blindness Congenital stationary night blindness, Oguchi type Congenital stenosis of the cervical spine Congenital stenosis of the inferior caval vein Congenital stenosis of the inferior vena cava Congenital stenosis of the IVC Congenital stiff man syndrome Congenital stromal corneal dystrophy Congenital Stuart factor deficiency Congenital subglottic stenosis Congenital sucrase-isomaltase deficiency Congenital sucrase-isomaltase deficiency with minimal starch tolerance



47

ORPHA number

Disease name

Congenital sucrase-isomaltase 306474 deficiency with starch and lactose 306436

306462

306486

35122

306446

306474

306436

306462 35122 306446 306474 306436 306462

306486 3465 99059 98948 499009 99856 2039 210576 440221 93583 99125 858 141127 3347

intolerance Congenital sucrase-isomaltase deficiency with starch intolerance Congenital sucrase-isomaltase deficiency without starch intolerance Congenital sucrase-isomaltase deficiency without sucrose intolerance Congenital sucrase-isomaltose malabsorption Congenital sucrase-isomaltose malabsorption with minimal starch tolerance Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance Congenital sucrase-isomaltose malabsorption with starch intolerance Congenital sucrase-isomaltose malabsorption without starch intolerance Congenital sucrose intolerance Congenital sucrose intolerance with minimal starch tolerance Congenital sucrose intolerance with starch and lactose intolerance Congenital sucrose intolerance with starch intolerance Congenital sucrose intolerance without starch intolerance Congenital sucrose-isomaltose malabsorption without sucrose intolerance Congenital suprabulbar paresis Congenital supravalvular mitral ring Congenital symblepharon Congenital syphilis Congenital syringomyelia Congenital systemic arteriovenous fistula Congenital temporomandibular joint ankylosis Congenital third cranial nerve palsy Congenital thrombotic thrombocytopenic purpura Congenital total pulmonary venous return anomaly Congenital toxoplasmosis Congenital tracheal stenosis Congenital tracheobronchomegaly

ORPHA Disease name number 95430 Congenital tracheomalacia 95459 Congenital tricuspid stenosis 231013 Congenital trigeminal anesthesia 210576 Congenital trismus 88629 Congenital tritanopia 98686 Congenital trochlear nerve palsy 93583

Congenital TTP

141099 Congenital tubular nose 92050 Congenital tufting enteropathy 99060 95457 1166 2258 1864 291 2291 178382 295203 295201 137932 216694 216694 2391 860

216729

99042

860

216729

99042 99827 99827 97566 97231 369929 280210

Congenital unguarded mitral orifice Congenital unguarded tricuspid orifice Congenital unilateral hypoplasia of depressor anguli oris Congenital unilateral pulmonary hypoplasia Congenital valvular dysplasia Congenital varicella syndrome Congenital velopharyngeal incompetence Congenital vertical talus Congenital vertical talus, bilateral Congenital vertical talus, unilateral Congenital vocal cord paralysis Congenitally corrected transposition of the great arteries Congenitally corrected transposition of the great vessels Congenitally short costocoracoid ligament Congenitally uncorrected transposition of the great arteries Congenitally uncorrected transposition of the great arteries with cardiac malformation Congenitally uncorrected transposition of the great arteries with coarctation Congenitally uncorrected transposition of the great vessels Congenitally uncorrected transposition of the great vessels with cardiac malformation Congenitally uncorrected transposition of the great vessels with coarctation Congo fever Congo hemorrhagic fever Congo red-negative amyloidosislike glomerulopathy Conjunctivitis lignosa Conn adenoma with seizures and neurological abnormalities Connatal PMD

ORPHA number 300284 300284 →2909 420794 140969 567 35173

319651

252202 295000 1303 369942 84142 725 725 436003 1484

314002 1487 231214 1488 1302 444092 397725 2062 98984 457185 99098 99098 99099 99099 98990 180118 366 366 1051

Disease name

Connective tissue disorder due to LH3 deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency Connective tissue dysplasia, Spellacy type Cono-spondylar dysplasia Conorenal syndrome Conotruncal anomaly face syndrome Conradi-Hünermann-Happle syndrome Constitutional megaloblastic anemia with severe neurologic disease Constitutional mismatch repair deficiency syndrome Constriction rings syndrome Constrictive bronchiolitis Contiguous ABCD1 DXS1357E deletion syndrome Continuous muscle fiber activity syndrome Continuous spikes and waves during sleep Continuous spikes and waves during slow-wave sleep Contractures-developmental delay-Pierre Robin syndrome Contractures-ectodermal dysplasia-cleft lip/palate syndrome Contractures-webbed neckmicrognathia-hypoplastic nipples syndrome Cooks syndrome Cooley anemia Cooper-Jabs syndrome COP COPA defect CoPAN Copenhagen syndrome Coppock-like cataract COQ4-related neonatal encephalomyopathy Cor triatriatum dexter Cor triatriatum dextrum Cor triatriatum sinister Cor triatriatum sinistrum Coralliform cataract Cordiform uterus Cori disease Cori-Forbes disease Corneal anesthesia-deafnessintellectual disability syndrome



48

ORPHA number 1661 98962 98969 98961 98960 98961 98960 1490 1490

352662

3177 199 3194 2041 2041 2041 99085 99087 99118 99117 2508

3338

1493

1492

52055

459074

1496 1553

Disease name

Corneal dystrophy epithelial-short stature syndrome Corneal dystrophy Groenouw type I Corneal dystrophy Groenouw type II Corneal dystrophy of Bowman layer type 1 Corneal dystrophy of Bowman layer type 2 Corneal dystrophy of Bowman layer type I Corneal dystrophy of Bowman layer type II Corneal dystrophy with progressive deafness Corneal dystrophy-perceptive deafness syndrome Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Corneal-cerebellar syndrome Cornelia de Lange syndrome Corneo-dermato-osseous syndrome Coronaro-cardiac fistula Coronary arterial fistulas Coronary arterial malformations Coronary artery intramyocardial course Coronary ostial stenosis or atresia Coronary sinus atresia Coronary sinus stenosis Corpus callosum agenesisabnormal genitalia syndrome Corpus callosum agenesisblepharophimosis-Robin sequence syndrome Corpus callosum agenesiscataract-immunodeficiency syndrome Corpus callosum agenesis-double urinary collecting system syndrome Corpus callosum agenesisintellectual disability-colobomamicrognathia syndrome Corpus callosum agenesismacrocephaly-hypertelorism syndrome Corpus callosum agenesisneuronopathy syndrome Corpus callosum agenesispolysyndactyly syndrome

ORPHA number →3157

275543 2318 1389

300570 268994 163681 3152 447788 454887 199247 54251 99763 96253 141163 67047 67047 3071 1507 93333 1507 101078 201 201 99932 70472 781 1508 1509 254920 254925 137908 254930 319504 319509 314637 324535 314051 319514 319519 319524 352563

Disease name

Corpus callosum dysgenesishypopituitarism syndrome Corpus callosum hypoplasiaretardation-adducted thumbsspasticity-hydrocephalus syndrome CORS Cortical blindness-intellectual disability-polydactyly syndrome Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cortical dysplasia, Taylor type Cortical dysplasia-focal epilepsy syndrome Cortical hyperostosis-syndactyly syndrome Cortical visual impairment Corticobasal syndrome Corticosteroid-binding globulin deficiency Corticosteroid-sensitive aseptic abscess syndrome Corticosterone methyloxidase deficiency type I Corticotroph pituitary adenoma Cosack syndrome Costeff optic atrophy syndrome Costeff syndrome Costello syndrome Costovertebral segmentation defect-mesomelia syndrome Cousin syndrome COVESDEM syndrome Cowchock syndrome Cowden disease Cowden syndrome Cow's milk hypersensitivity COX deficiency, French-Canadian type Coxiellosis Coxoauricular syndrome Coxopodopatellar syndrome COXPD2 COXPD4 COXPD5 COXPD7 COXPD8 COXPD9 COXPD10 COXPD11 COXPD12 COXPD13 COXPD14 COXPD15 COXPD16

ORPHA Disease name number 369913 COXPD17 420728 COXPD20 420733 COXPD21 444013 COXPD23 444458 COXPD24 447954 COXPD25 477684 COXPD26 477774 COXPD27 466784 COXPD28 478029 COXPD29 478042 COXPD30 2444 CPAM 280827 CPAM type 0 280832 CPAM type 1 280840 CPAM type 2 280847 CPAM type 3 280854 CPAM type 4 475 CPD IV 300564 CPFE 91359 2016 2807 759 147 147 156 157 228302 228305 228308 228302 228308 228305 157 228302 228305 228308 228302 228308 228305 3286 35173 2081 202 1512 97339 97339 268820 98919 98919

CPI CPLS syndrome CPP CPP CPS1 deficiency CPS1D CPT1A deficiency CPT2 CPT2, adult-onset form CPT2, hepatocardiomuscular form CPT2, lethal systemic form CPT2, myopathic form CPT2, neonatal form CPT2, severe infantile form CPTII CPTII, adult-onset form CPTII, hepatocardiomuscular form CPTII, lethal systemic form CPTII, myopathic form CPTII, neonatal form CPTII, severe infantile form CPVT CPXD Cramer-Niederdellmann syndrome Crandall syndrome Crane-Heise syndrome Cranial dural arteriovenous fistula Cranial dural arteriovenous malformations Cranial meningocele Cranial variant of GBS Cranial variant of Guillain-Barré syndrome



49

ORPHA number

Disease name

Cranio-cervical dystonia with 420485 laryngeal and upper-limb 2115 1525 2053 2053 7 1513 1514 1515 85168 1681 1777

→1394

1798

2095

314555

459061 1516 1529 293843 363705 1520 228390 1519 1521 1520 50814 85184 1522 1524 54595 63260 157832 1541 2145

involvement Cranio-facio-digito-genital syndrome Cranio-osteoarthropathy Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Craniocerebellocardiac dysplasia Craniodiaphyseal dysplasia Craniodigital-intellectual disability syndrome Cranioectodermal dysplasia Craniofacial conodysplasia Craniofacial duplication Craniofacial dysmorphismcoloboma-corpus callosum agenesis syndrome Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome Craniofacial dysostosis-diaphyseal hyperplasia syndrome Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome Craniofacial dysplasia-osteopenia syndrome Craniofacial dysplasia-short stature-ectodermal anomaliesintellectual disability syndrome Craniofacial dyssynostosis Craniofacial-deafness-hand syndrome Craniofacial-ulnar-renal syndrome Craniofaciofrontodigital syndrome Craniofrontonasal dysplasia Craniofrontonasal dysplasia with alopecia and hypogonadism Craniofrontonasal dysplasia, Teebi type Craniofrontonasal dysplasiaPoland anomaly syndrome Craniofrontonasal syndrome Craniolenticulosutural dysplasia Craniometadiaphyseal dysplasia, wormian bone type Craniometaphyseal dysplasia Craniomicromelic syndrome Craniopharyngioma Craniorachischisis Craniorhiny Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type

ORPHA number 1527 1541 1532 85199 1530

2872

1538 284149 →53271 1533

171839

52054

1540 1528 2095 75373 275543 184 71 52503 99854 504 280569 90290 281 281190 205 79234 79235 99827 99827 499085 1545 1461 1461 891 313838

Disease name

Craniosynostosis, Philadelphia type Craniosynostosis, Warman type Craniosynostosis-alopecia-brain defect syndrome Craniosynostosis-anal anomaliesporokeratosis syndrome Craniosynostosis-cataract syndrome Craniosynostosis-congenital heart disease-intellectual disability syndrome Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis-dental anomalies Craniosynostosis-dysmorphismbrachydactyly syndrome Craniosynostosis-fibular aplasia syndrome Craniosynostosis-hydrocephalusArnold-Chiari malformation type Iradioulnar synostosis syndrome Craniosynostosis-intracranial calcifications syndrome Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome Craniotelencephalic dysplasia Cranofacial dysostosishypertrichosis-hypoplasia of labia majora syndrome CRAPB CRASH syndrome CRBM CRD Creatine transporter deficiency Cree leukoencephalopathy Creeping myiasis Crescentic glomerulonephritis CREST syndrome Cri du chat syndrome CRIE Crigler-Najjar syndrome Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 2 Crimean hemorrhagic fever Crimean-Congo hemorrhagic fever CRION Crisponi syndrome Criss-cross atrioventricular relationships Criss-cross heart Criswick-Schepens syndrome CRMCC

ORPHA Disease name number 324964 CRMO 1380 Crome syndrome 2930 Cronkhite-Canada syndrome 2719 2935

Cross syndrome Crossed polysyndactyly 439881 Croupous bronchitis 207 Crouzon craniofacial dysostosis 207 Crouzon disease Crouzon syndrome-acanthosis 93262 nigricans syndrome 93262 Crouzon-dermoskeletal syndrome 2905 Crow-Fukase syndrome 290 CRS →247691 CRV 411527 CRVO 91139 Cryoglobulinemia type 1 91138 Cryoglobulinemic vasculitis 1546 Cryptococcosis 2032 Cryptogenic fibrosing alveolitis Cryptogenic late-onset epileptic 163708 spasms Cryptogenic multifocal ulcerous 468635 stenosing enteritis 1302 Cryptogenic organizing pneumonia Cryptomicrotia-brachydactyly 1547 syndrome Cryptomicrotia-brachydactyly1547 excess fingertip arch syndrome Cryptophthalmos-syndactyly 2052 syndrome Cryptorchidism-arachnodactyly1548 intellectual disability syndrome 1549 Cryptosporidiosis Cryptosporidiosis-chronic 357329 cholangitis-liver disease syndrome 98967 Crystalline stromal dystrophy 101068 CSCD 443079 CSCR 35122 CSID CSID with minimal starch 306446 tolerance CSID with starch and lactose 306474 intolerance 306436 CSID with starch intolerance 306462 CSID without starch intolerance 306486 CSID without sucrose intolerance 1465 CSS 100008 CST3-related amyloidosis 329217 CSVT 725 CSWS 725 CSWSS syndrome 70591 CTEPH CTLA-4 haploinsufficiency with 436159 autoimmune infiltration disease



50

ORPHA number 247525 CTLN1 247585 CTLN2 909

Disease name

CTX

158 CUD 420584 Culler-Jones syndrome 3207 98960 307766 →1071 1525 1525 1552 1552 640 952 1553 96253 99889 189427 53721 2451 280779 329324 889 178475 423717 889 889 79455 79490 79455 90395 79140 439729 439729 2881 439729 451607 889

Curatolo-Cilio-Pessagno syndrome Curly fiber corneal dystrophy Curly hair-acral keratodermacaries syndrome Curly hair-ankyloblepharon-nail dysplasia syndrome Currarino disease Currarino idiopathic osteoarthropathy Currarino syndrome Currarino triad Current pressure-sensitive neuropathy Curry-Hall syndrome Curry-Jones syndrome Cushing disease Cushing syndrome due to ectopic ACTH secretion Cushing syndrome due to macronodular adrenal hyperplasia Cutaneomeningospinal angiomatosis Cutaneous and mucosal venous malformation Cutaneous collagenous vasculopathy Cutaneous hemangioma with muscle or bone atrophy Cutaneous hypersensitivity vasculitis Cutaneous infectious botulism Cutaneous larva migrans Cutaneous leukocytoclastic angiitis Cutaneous leukocytoclastic vasculitis Cutaneous local mastocytoma Cutaneous lymphangioma circumscriptum Cutaneous mastocytoma Cutaneous mucinosis of infancy Cutaneous neuroendocrine carcinoma Cutaneous PAN Cutaneous periarteritis nodosa Cutaneous photosensitivity-lethal colitis syndrome Cutaneous polyarteritis nodosa Cutaneous pseudolymphoma Cutaneous small vessel vasculitis

ORPHA number

Disease name

Cutaneous toxin-mediated botulism Cutaneovisceral angiomatosis464321 thrombocytopenia syndrome Cutis gyrata-acanthosis nigricans1555 craniosynostosis syndrome 228285 Cutis laxa acquisita Cutis laxa with severe pulmonary, 221145 gastrointestinal and urinary anomalies Cutis laxa-corneal clouding2962 intellectual disability syndrome 171719 Cutis laxa-Marfanoid syndrome Cutis marmorata telangiectatica 1556 congenita Cutis verticis gyrata-intellectual →357225 disability syndrome Cutis verticis gyrata-retinitis →357225 pigmentosa-neurosensory deafness syndrome Cutis verticis gyrata-retinitis →357225 pigmentosa-neurosensory hearing loss syndrome Cutis verticis gyrata-retinitis →357225 pigmentosa-sensorineural deafness syndrome Cutis verticis gyrata-retinitis →357225 pigmentosa-sensorineural hearing loss syndrome Cutis verticis gyrata-thyroid →357225 aplasia-intellectual disability syndrome 3327 Cutler-Bass-Romshe syndrome 1572 CVID 466670 Cyanide poisoning 306692 Cyanide-induced parkinsonism 2686 Cyclic neutropenia Cyclosporine-induced 228379 folliculodystrophy 210 Cyclosporosis 79493 CYLD cutaneous syndrome 171886 Cylindrical spirals myopathy 90795 CYP11B1 deficiency Cyprus facial2674 neuromusculoskeletal syndrome 212 Cystathionase deficiency Cystathione gamma-lyase 212 deficiency syndrome Cystathionine beta-synthase 394 deficiency 212 Cystathioninuria 100008 Cystatin amyloidosis 400 Cystic echinococcosis 586 Cystic fibrosis Cystic fibrosis-gastritis2575 megaloblastic anemia syndrome 178475

ORPHA number 2111 79486 85136 229 1560 213 214 93612 93613 214 75381 472 180261 498228 180261 498228 70472 70472 95702

137698 94087 477787 137678 2736 2917 2437 2953 2953 90038 356978 356978 356978 79315 79315 79315 93599 941 941 941 2134

Disease name

Cystic hamartoma of lung and kidney Cystic hygroma Cystic leukoencephalopathy without megalencephaly Cystic medial necrosis of aorta Cysticercosis Cystinosis Cystinuria Cystinuria type A Cystinuria type B Cystinuria-lysinuria syndrome Cystoid macular dystrophy Cystoisosporiasis Cystosarcoma phyllode of the breast Cystosarcoma phyllode of the prostate Cystosarcoma phylloide of the breast Cystosarcoma phylloide of the prostate Cytochrome C oxidase deficiency, French-Canadian type Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type Cytomegalic congenital adrenal hypoplasia Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk Cytophagic histiocytic panniculitis Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Czech dysplasia, metatarsal type Czeizel syndrome Czeizel-Brooser syndrome Czeizel-Losonci syndrome D4ST1-deficient EDS D4ST1-deficient Ehlers-Danlos syndrome D+HUS D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria D-glycerate dehydrogenase deficiency D-glycerate kinase deficiency D-glyceric acidemia D-glyceric aciduria D-HUS



51

ORPHA number

Disease name

D-HUS with anti-factor H antibodies 93578 D-HUS with B factor anomaly 93575 D-HUS with C3 anomaly 357008 D-HUS with DGKE deficiency 93579 D-HUS with H factor anomaly 93580 D-HUS with I factor anomaly 93576 D-HUS with MCP/CD46 anomaly D-HUS with thrombomodulin 217023 anomaly 1146 DA1 1146 DA1A 329457 DA5D 1495 Da Silva syndrome 251515 DA10 458768 Dabska tumor 141083 Dacryocele Dacryocystitis-osteopoikilosis 1562 syndrome 141083 Dacryocystocele 2186 Daentl-Townsend-Siegel syndrome 1563 Dahlberg syndrome Dahlberg-Borer-Newcomer 1563 syndrome 2181 Daish-Hardman-Lamont syndrome 275523 DALD 1183 Dancing eye syndrome Dancing eye-dancing feet 1183 syndrome Dandy-Walker malformation-facial →42775 hemangioma syndrome Dandy-Walker malformation1566 postaxial polydactyly syndrome 2091 Daneman-Davy-Mancer syndrome 34587 Danon disease 99645 Dappled diaphyseal dysplasia 218 Darier disease 316 Darier-Gottron disease 218 Darier-White disease 390 Darling disease 293978 DAVID syndrome 75565 Davies disease 2806 Dawson's encephalitis 1425 DBQD 2143 DBS/FOAR syndrome 1775 DC 79456 DCM 66634 DCMA syndrome 75381 DCMD 1653 DD 99789 DD-I 99791 DD-II →231568 DDEB, Cockayne-Touraine type 231568 DDEB, generalized 93581

ORPHA number

Disease name

DDEB, Pasini and CockayneTouraine types →231568 DDEB, Pasini type 231568 DDEB-gen 99970 DDLS 79499 DDOD syndrome 52368 DDON syndrome 300536 DDOST-CDG DDX41-related hematologic 488647 malignancy predisposition syndrome 2962 De Barsy syndrome De Die-Smulders-Vles-Fryns 1130 syndrome 1598 De Grouchy syndrome →782 De Hauwere syndrome →782 De Hauwere-Chitty syndrome 56304 De la Chapelle dysplasia 393 De la Chapelle syndrome 3157 De Morsier syndrome →910 De Sanctis-Cacchione syndrome 1570 De Smet-Fabry-Fryns syndrome 33355 De Vaal disease 71277 De Vivo disease Deaf blind hypopigmentation 3214 syndrome, Yemenite type Deafness with labyrinthine 90024 aplasia, microtia, and microdontia Deafness-cataract-skeletal 2663 anomalies syndrome 3241 Deafness-craniofacial syndrome Deafness-dystonia-optic 52368 neuronopathy syndrome Deafness-ear malformation-facial 3232 palsy syndrome Deafness-enamel hypoplasia-nail 3220 defects syndrome Deafness-encephaloneuropathy254898 obesity-valvulopathy syndrome Deafness-epiphyseal dysplasia3218 short stature syndrome Deafness-genital anomalies3224 metacarpal and metatarsal synostosis syndrome Deafness-Hermann type 3237 symphalangism syndrome Deafness-hypogonadism 90646 syndrome 94064 Deafness-infertility syndrome Deafness-intellectual disability 85321 syndrome, Martin-Probst type Deafness-lymphedema-leukemia 3226 syndrome Deafness-nephritis-ano-rectal 2408 malformation syndrome 231568

ORPHA Disease name number 3230 Deafness-oligodontia syndrome

Deafness-onychodystrophy79500 osteodystrophy-intellectual

79500

79500 →52368 123 3219 3219

3217

3221 3239 →2697 158673 79411 89843 158673 79411 158676 89843 79410 431361 99970 397587 31150 75496 60

293978 404546 404546 158 141330 679 315

disability syndrome Deafness-onychodystrophyosteodystrophy-intellectual disability-seizures syndrome Deafness-onychoosteodystrophyintellectual disability syndrome Deafness-opticoacoustic nerve atrophy-dementia syndrome Deafness-pili torti-hypogonadism syndrome Deafness-skeletal dysplasia-coarse face with full lips syndrome Deafness-skeletal dysplasia-lip granuloma syndrome Deafness-small bowel diverticulosis-neuropathy syndrome Deafness-thyroid hormone resistance syndrome Deafness-vitiligo-achalasia syndrome Deal-Barrat-Dillon syndrome DEB, acral DEB, bullous dermolysis of the newborn DEB, pruriginosa DEB-ac DEB-BDN DEB-na DEB-Pr DEB-Pt DECR deficiency with hyperlysinemia Dedifferentiated liposarcoma Deep dermatophytosis Defective adenosine triphosphatebinding cassette transporter A1 Defective biosynthesis of proteodermatan sulfate Deficiency in Alpa-1-proteinase inhibitor Deficiency in anterior pituitary function-variable immunodeficiency syndrome Deficiency of IL-36R antagonist Deficiency of IL-36Ra Deficiency of plasma-membrane carnitine transporter Degner syndrome Degos disease Degos genodermatosis "en cocardes"



52

ORPHA number 3202 64748 2318 1627 1627 401986 456298 1606 250989 250999 238769 293948 363680 261349 163693 369881 228402 1617 251014 251019 251019 251028 1001 1621 356947 397695 65286 435638 238750 228384 314655 251046 171829 251056 251061 251066 251071 284160 2496 324313 352665 401923 495818 284169 276413 893 444002 2308 2308 313884 280325 94063 289513

Disease name

Dehydrated hereditary stomatocytosis Dejerine-Sottas syndrome Dekaban-Arima syndrome Del (5)(q35) Del (5)(qter) Del(1)(p31p32) Del(1)(p35.2) Del(1)(p36) Del(1)(q21) Del(1)(q41q42) Del(1)(q44) Del(1)p(21.3) Del(2)(p13.2) Del(2)(p15p16.1) Del(2)(p21) Del(2)(p21) without cystinuria Del(2)(q23.1) Del(2)(q24) Del(2)(q31.1) Del(2)(q32) Del(2)(q32q33) Del(2)(q33.1) Del(2)(q37) Del(3)(q13) Del(3)(q26q27) Del(3)(q27.3) Del(3)(q29) Del(3)p(25.3) Del(4)(q21) Del(5)(q14.3) Del(5)(q31.3) Del(6)(p22) Del(6)(q16) Del(6)(q25) Del(7)(q31) Del(8)(p11.2) Del(8)(p23.1) Del(8)(q21.11) Del(8)q(13) Del(9)(p13) Del(9)(q21) Del(9)(q31.1q31.3) Del(9)(q33.3q34.11) Del(10)(p11.21p12.31) Del(10)(q22.3q23.3) Del(11)(p13) Del(11)(q22.2q22.3) Del(11)(q23.3) Del(11)(qter) Del(12)(p12.1) Del(12)(p13.33) Del(12)(q14) Del(12)(q15)(q21.1)

ORPHA Disease name number 412035 Del(13)(q12.3) 1587 Del(13)(q14) 96168

Del(13)(q34)

ORPHA Disease name number 1590 Deletion 13q32 1600 Deletion 18q 96123 Deletion 22

261120 Del(14)(q11.2) 261144 Del(14)(q12)

1647 1647

264200 Del(14)(q22q23) 401935 Del(14)(q24.1q24.3)

79101

261183 Del(15)(q11.2) 199318 Del(15)(q13.3)

35664

261190 Del(15)(q14) 94065 Del(15)(q24) 261211 Del(16)(p11.2p12.2)

231237 219

261236 Del(16)(p13.11) 500055 Del(16)(p13.2)

97353

168782 283 283

352629 Del(16)(q24.1) 261250 Del(16)(q24.3)

314451

97685

79134

261265 363958 261279 254346 357001 217346 261295 313781 444051 261311 261323 268261 96123 261476 1643 3034

3038 456298 1606 1606 1001 1001 281 1627 904 284160 502 495818 284169 276413 893 94063 289513 1587

Del(17)(q11) Del(17)(q12) Del(17)(q21.31) Del(17)(q23.1q23.2) Del(19)(p13.12) Del(19)(p13.13) Del(19)(q13.11) Del(20)(p12.3) Del(20)(p13) Del(20)(q11.2) Del(20)(q13.33) Del(21)(q22.11q22.12) Del(21)(q22.13q22.2) Del(22) Del(X)(p21) Del(X)(p23) Delayed membranous cranial ossification Delayed speech-facial asymmetrystrabismus-ear lobe creases syndrome Deletion 1p35.2 Deletion 1p36 Deletion 1pter Deletion 2q37 Deletion 2q37-qter Deletion 5p Deletion 5q35 Deletion 7q11.23 Deletion 8q21.11 Deletion 8q24.1 Deletion 9q33.3q34.11 Deletion 10p11.21p12.31 Deletion 10q22.3q23.3 Deletion 11p13 Deletion 12q14 Deletion 12q15q21.1 Deletion 13q14

86903 228423 99828 99828 2109 93571 1652 93622 93623 1652 2095 1077 101 101 1653 314721 99789 99791 99792 49042 166260 166265 49042 166260 166265

Delleman syndrome Delleman-Oorthuys syndrome Delta1-pyrroline-5-carboxylate dehydrogenase deficiency Delta-1-pyrroline 5-carboxylate synthetase deficiency Delta-beta-thalassemia Delta-sarcoglycanopathy Dementia infantilis Dementia pugilistica Demodicidosis Demodicosis Demons-Meigs syndrome DEND syndrome Dendritic cell sarcoma not otherwise specified Dendritic cell, monocyte, B and NK lymphoid deficiency Dengue fever Dengue virus infection Dennis-Fairhurst-Moore syndrome Dense deposit disease Dent disease Dent disease type 1 Dent disease type 2 Dent syndrome Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome Dental ankylosis Dentatorubral pallidoluysian atrophy Dentatorubropallidoluysian atrophy Dentin dysplasia Dentin dysplasia type 1 with microdontia and shape anomalies Dentin dysplasia type I Dentin dysplasia type II Dentin dysplasia-sclerotic bones syndrome Dentinogenesis imperfecta Dentinogenesis imperfecta type 2 Dentinogenesis imperfecta type 3 Dentinogenesis imperfecta without osteogenesis imperfecta Dentinogenesis imperfecta, Shields type 2 Dentinogenesis imperfecta, Shields type 3



53

ORPHA number

Disease name

ORPHA number

Dentinogenesis imperfecta-short 71267 stature-hearing loss-intellectual 77295 220 3177 3270 369950 96170 36397 1656 1266 31112 1659 221 1657 86920 36426 1660 79149 141051 141046 99688 1916 1916 1425 1425 163703 228123 228123 98909 84132 98909 873 873 251940 83469 251863 35107 98852 158014

disability syndrome Dentoleukoencephalopathy Denys-Drash syndrome Der Kaloustian-Jarudi-Khoury syndrome Der Kaloustian-McIntosh-Silver syndrome Der(8)t(8;12) Der(22)t(11;22) syndrome Dercum disease Dermatitis herpetiformis Dermato-cardio-skeletal syndrome, Borrone type Dermatofibrosarcoma protuberans Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian type Dermatopathia pigmentosa reticularis Dermatostomatitis, Stevens Johnson type Dermo-odonto dysplasia Dermochondrocorneal dystrophy Dermoid cyst of the face Dermoid cyst of the neck Dermotrichic syndrome DES embryofetopathy DES syndrome Desbuquois dysplasia Desbuquois syndrome DESC syndrome Desert fever Desert rheumatism Desmin-related myofibrillar myopathy Desmin-related myopathy with Mallory body-like inclusions Desminopathy Desmoid tumor Desmoid type fibromatosis Desmoplastic infantile astrocytoma/ganglioglioma Desmoplastic small round cell tumor Desmoplastic/nodular medulloblastoma Desmosterolosis Desquamative interstitial pneumonia Destombes-Rosaï-Dorfman disease

Disease name

Devastating epileptic 163703 encephalopathy in school-aged 313892

79157

289307

289307

289307 329195

329195

163988 79134

99989

2101

459061

79107 209908 71211 →3464 1014 403 1666 →244 99828 383 31112 49042 49042 166260 373 319651 139518 139525 139547 139536

children Developmental and speech delay due to SOX5 deficiency Developmental delay due to 2methylbutyryl-CoA dehydrogenase deficiency Developmental delay due to ALDH6A1 deficiency Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Developmental delay due to MMSDH deficiency Developmental delay with ASD and gait instability Developmental delay with autism spectrum disorder and gait instability Developmental delay-deafness syndrome, Hildebrand type Developmental delay-epilepsyneonatal diabetes syndrome Developmental delay-epilepsyneonatal diabetes syndrome, intermediate form Developmental delay-hypotoniaextremities hypertrophy syndrome Developmental delay-short stature-dysmorphic featuressparse hair syndrome Developmental malformationsdeafness-dystonia syndrome Developmental verbal dyspraxia Devic disease Devriendt-Legius-Fryns syndrome Devriendt-Vandenberghe-Fryns syndrome Dexamethasone-sensitive hypertension Dextrocardia Dextrocardia-bronchiectasissinusitis syndrome DF DFNX2 DFSP DGI DGI without OI DGI-2 DGSX DHFR deficiency dHMN1 dHMN2 dHMN3 and dHMN4 dHMN5

ORPHA number 98920 dHMN6 139589 dHMN7 357043 139552 75376 49042 1914 166260 251940 3463

3464 1926 85446 85446 275523

494444

494444 66637 255182 2141

2059

2143

2143

98920 404521 1802 85182

85182 97282 1671 628 628

Disease name

dHMN with upper motor neuron signs dHMNJ DHRD DI di Sala syndrome DI-2 DIA/DIG Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome Diabetes-hypogonadism-deafnessintellectual disability syndrome Diabetic embryopathy Dialysis-related amyloidosis Dialysis-related arthropathy Dianzani autoimmune lymphoproliferative disease DIAPH1-related sensorineural deafness-thrombocytopenia syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Diaphanospondylodysostosis Diaphorase deficiency Diaphragmatic defect-limb deficiency-skull defect syndrome Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome Diaphragmatic herniaexomphalos-hypertelorism syndrome Diaphragmatic herniahypertelorism-myopia-deafness syndrome Diaphragmatic spinal muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosisbone malignancy syndrome Diaphyseal medullary stenosismalignant fibrous histiocytoma syndrome Diarrheogenic islet cell tumor Diastematomyelia Diastrophic dwarfism Diastrophic dysplasia



54

ORPHA number

Disease name

Diazoxide-resistant focal 276603 hyperinsulinism due to Kir6.2

276598 2195 284343 180086 3463 370046 1672 1672 1672 1672 319192 1916 1916 146 90060 324 251595

404437

79456 79456 220393 220393

2199

2199 702 3165 497188 300849 300888 252031 141209 141209 141209

deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Dicarboxylic aminoaciduria DICER1 syndrome Didelphys uterus DIDMOAD syndrome Didymosis aplasticosebacea Diencephalic cachexia Diencephalic syndrome Diencephalic syndrome of childhood Diencephalic syndrome of emaciation Diencephalic-mesencephalic junction dysplasia Diethylstilbestrol embryofetopathy Diethylstilbestrol syndrome Differentiated thyroid carcinoma Diffuse alveolar hemorrhage Diffuse angiokeratoma Diffuse astrocytoma Diffuse cerebral and cerebellar atrophy-intractable seizuresprogressive microcephaly syndrome Diffuse cutaneous maculopapulous mastocytosis Diffuse cutaneous mastocytosis Diffuse cutaneous systemic scleroderma Diffuse cutaneous systemic sclerosis Diffuse erythrodermic palmoplantar keratoderma, Voerner type Diffuse erythrodermic palmoplantar keratoderma, Vörner type Diffuse familial brain sclerosis Diffuse fasciitis with eosinophilia Diffuse intrinsic pontine glioma Diffuse large B-cell lymphoma of the central nervous system Diffuse large B-cell lymphoma with chronic inflammation Diffuse leptomeningeal melanocytosis Diffuse lymphangioma Diffuse lymphangiomatosis Diffuse lymphatic malformation

ORPHA number 168811 2123 86918

369999 2337

86918 171700 71274 66627 66627 567 567 238 141071

1305

391641

352487 2926 31828 →79500 1146 294990 295114 973 294990 295114 973 319651

79244

2394 255182

79244

Disease name

Diffuse malignant peritoneal mesothelioma Diffuse neonatal hemangiomatosis Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Diffuse palmoplantar keratoderma with painful fissures Diffuse palmoplantar keratoderma, Bothnian type Diffuse palmoplantar keratoderma-acrocyanosis syndrome Diffuse panbronchiolitis Diffuse peritoneal leiomyomatosis Diffuse-type GCT Diffuse-type giant cell tumor DiGeorge sequence DiGeorge syndrome Digestive duplication Digestive duplication cyst of the tongue Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 Digital anomalies-intellectual disability-short stature syndrome Digital extensor muscle aplasiapolyneuropathy Digitalis poisoning Digitorenocerebral syndrome Digitotalar dysmorphism Digits 2-5 hypodactyly Digits 2-5 hypodactyly, bilateral Digits 2-5 hypodactyly, unilateral Digits 2-5 oligodactyly Digits 2-5 oligodactyly, bilateral Digits 2-5 oligodactyly, unilateral Dihydrofolate reductase deficiency Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency Dihydrolipoamide dehydrogenase deficiency Dihydrolipoyl dehydrogenase deficiency Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency

ORPHA number 226 38874 1675 38874 99102 99102 99101 99101 66634

2229 231111 243343 →3157 314002 1493 497188 227 1679 128 1681 1681 1756 210115 166291 94064 35122 306446 306474 306436 306462 306486 90281 216694 99052 99051 90394

Disease name

Dihydropteridine reductase deficiency Dihydropyrimidinase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilatation of the left atrial appendage Dilatation of the left auricle Dilatation of the right atrial appendage Dilatation of the right atrial auricle Dilated cardiomyopathy with ataxia Dilated cardiomyopathyhypergonadotropic hypogonadism syndrome DILE Dimethylglycine dehydrogenase deficiency Dincsoy-Salih-Patel syndrome Dinno syndrome Dionisi-Vici-Sabetta-Gambarara syndrome DIPG Diphallia Diphtheria Diphyllobothriasis Diprosopia Diprosopus Dipygus DIRA Dirofilariasis DIS Disaccharide intolerance Disaccharide intolerance with minimal starch tolerance Disaccharide intolerance with starch and lactose intolerance Disaccharide intolerance with starch intolerance Disaccharide intolerance without starch intolerance Disaccharide intolerance without sucrose intolerance Discoid lupus erythematosus Discordant ventriculoarterial and atrioventricular connections Discrete fibromuscular subaortic stenosis Discrete fixed membranous subaortic stenosis Discrete papular lichen myxedematosus



55

ORPHA number 139420 210272 2412 2983 345 54251 1306 397587 141209 141209 141209 228264 71274 79152 1620 1627 254351 261102 1580 1590 1596 261222 319171 261257 1597 261330 261337 63273 399096 178400 1146 2053 1147 376 65720 1154 329457

Disease name

Disease-associated transverse myelitis Disembarkment syndrome Dislocation of the hipdysmorphism syndrome Disorder of sex developmentintellectual disability syndrome Dissecting cellulitis of the scalp Disseminated aseptic abscesses Disseminated dermatofibrosis with osteopoikilosis Disseminated granulomatous dermatophytosis Disseminated lymphangioma Disseminated lymphangiomatosis Disseminated lymphatic malformation Disseminated nevus anelasticus Disseminated peritoneal leiomyomatosis Disseminated superficial actinic porokeratosis Distal 3p deletion Distal 5q deletion Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Distal 10p deletion Distal 13q deletion Distal 15q deletion syndrome Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 17q deletion Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Distal ABD-filaminopathy Distal anoctaminopathy Distal anterior compartment myopathy Distal arthrogryposis type 1 Distal arthrogryposis type 2A Distal arthrogryposis type 2B Distal arthrogryposis type 3 Distal arthrogryposis type 4 Distal arthrogryposis type 5 Distal arthrogryposis type 5 without ophthalmoparesis

ORPHA number 329457 329457 1144 3377 65743 115 251515 376 1154 65720 1154 254351 261222 319171 261257 261330 36367 280 96145 96125 96126 1636 1642 96148 2308 280325 96149 96168 96150 96129 96152 261102 261337 293939 96069 96070 96094 96071 96072 96096 96097 1745 96098 96074 96100 96101 96102 96103 96105 1705 1707 96078

Disease name

Distal arthrogryposis type 5 without ophthalmoplegia Distal arthrogryposis type 5D Distal arthrogryposis type 6 Distal arthrogryposis type 7 Distal arthrogryposis type 8 Distal arthrogryposis type 9 Distal arthrogryposis type 10 Distal arthrogryposis type IIA Distal arthrogryposis type IIB Distal arthrogryposis type IID Distal arthrogryposis with ophthalmoplegia Distal del(7)(q11.23) Distal del(16)(p11.2) Distal del(17)(p13.1) Distal del(17)(p13.3 ) Distal del(22)(q11.2) Distal deletion 1q Distal deletion 4p Distal deletion 4q Distal deletion 6p Distal deletion 7p Distal deletion 7q36 Distal deletion 9p Distal deletion 10q Distal deletion 11q Distal deletion 12p Distal deletion 12q Distal deletion 13q34 Distal deletion 14q Distal deletion 19p Distal deletion 20q Distal dup(7)(q11.23) Distal dup(22)(q11.2) Distal dup(X)q(28) Distal duplication 1p36 Distal duplication 2p Distal duplication 2q Distal duplication 3p Distal duplication 4p Distal duplication 4q Distal duplication 5q Distal duplication 6p Distal duplication 6q Distal duplication 7p Distal duplication 8q Distal duplication 9q Distal duplication 10q Distal duplication 11q Distal duplication 13q Distal duplication 14q Distal duplication 15q Distal duplication 16p

ORPHA Disease name number 96106 Distal duplication 16q 3379 Distal duplication 17q 1716 Distal duplication 18q 1717 96107 96109 1762 139518 139525 139547 139536 98920 139589 139536

357043

139552 139536 1307 36367 1620 280 96145 96125 96126 254351 1636 1642 1580 96148 2308 280325 96149 1590 96150 1596 261222 261257 1597 96129 96152 261330 59135 399086

Distal duplication 19q Distal duplication 20q Distal duplication 22q Distal duplication Xq Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 3 and type 4 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 6 Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type V Distal hereditary motor neuropathy with upper motor neuron signs Distal hereditary motor neuropathy, Jerash type Distal HMN V Distal limb deficienciesmicrognathia syndrome Distal monosomy 1q Distal monosomy 3p Distal monosomy 4p Distal monosomy 4q Distal monosomy 6p Distal monosomy 7p Distal monosomy 7q11.23 Distal monosomy 7q36 Distal monosomy 9p Distal monosomy 10p Distal monosomy 10q Distal monosomy 11q Distal monosomy 12p Distal monosomy 12q Distal monosomy 13q Distal monosomy 14q Distal monosomy 15q Distal monosomy 16p11.2 Distal monosomy 17p13.3 Distal monosomy 17q Distal monosomy 19p13.3 Distal monosomy 20q Distal monosomy 22q11.2 Distal myopathy type 1 Distal myopathy type 3



56

ORPHA number

Disease name

Distal myopathy with anterior tibial onset Distal myopathy with early 34521 respiratory muscle involvement Distal myopathy with posterior leg 63273 and anterior hand involvement Distal myopathy with rimmed 602 vacuoles Distal myopathy with vocal cord 600 weakness 602 Distal myopathy, Nonaka type 488650 Distal myopathy, Tateyama type 609 Distal myopathy, Udd type 603 Distal myopathy, Welander type 98911 Distal myotilinopathy Distal osteolysis-short stature2776 intellectual disability syndrome 18 Distal renal tubular acidosis Distal renal tubular acidosis type →402041 1b Distal renal tubular acidosis type →402041 1c Distal renal tubular acidosis with 93610 anemia Distal spinal muscular atrophy 139525 type 2 Distal spinal muscular atrophy 139547 type 3 Distal spinal muscular atrophy 206580 type 4 Distal spinal muscular atrophy 139536 type 5 Distal spinal muscular atrophy 139589 with vocal cord paralysis 3248 Distal symphalangism 314588 Distal tetrasomy 15q 609 Distal titinopathy 96069 Distal trisomy 1p36 96070 Distal trisomy 2p 96094 Distal trisomy 2q 96071 Distal trisomy 3p 96072 Distal trisomy 4p 96096 Distal trisomy 4q 96097 Distal trisomy 5q 1745 Distal trisomy 6p 96098 Distal trisomy 6q 96074 Distal trisomy 7p 261102 Distal trisomy 7q11.23 96100 Distal trisomy 8q 96101 Distal trisomy 9q 96102 Distal trisomy 10q 96103 Distal trisomy 11q 96105 Distal trisomy 13q 1705 Distal trisomy 14q 1707 Distal trisomy 15q 178400

ORPHA Disease name number 96078 Distal trisomy 16p 96106 Distal trisomy 16q 3379 Distal trisomy 17q 1716 1717 96107 96109 261337 293939 293939 98920 →33001 1916 1685 1685 404546 99099 99098 91131 3439 1775 300849 300888 2394 252031 273 98896 243343 243343 602 99812 443950 443950 251946 404443 251975 1215 3262 447737 217390 79322 91131 2616 86309 3427

Distal trisomy 18q Distal trisomy 19q Distal trisomy 20q Distal trisomy 22q Distal trisomy 22q11.2 Distal trisomy Xq28 Distal Xq28 microduplication syndrome Distal-HMN type 6 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome Distilbene embryofetopathy Distomatosis Distomiasis DITRA Divided left atrium Divided right atrium DK1-CDG DK phocomelia syndrome DKC DLBCL of the CNS DLBCL with chronic inflammation DLD deficiency DLM DM1 DMD DMG dehydrogenase deficiency DMGDH deficiency DMRV DNA ligase IV deficiency DNAJB2-related Charcot-MarieTooth disease type 2 DNAJB2-related CMT2 DNET DNMT3A-related overgrowth syndrome DNT of the cerebellum DOA+ Dobrow syndrome DOCK2 deficiency DOCK8 immunodeficiency syndrome Dol-P-mannosyltransferase deficiency Dolichol kinase deficiency Dolichospondylic dysplasia Dolichyl-phosphate Nacetylgalactosamine phosphotransferase deficiency DOLV

ORPHA Disease name number 231226 Dominant beta-thalassemia 75376 Dominant drusen

Dominant hyaloideoretinal dystrophy of Wagner Dominant hypophosphatemia 244305 with nephrolithiasis or osteoporosis Dominant KATP hyperinsulinism 276580 due to Kir6.2 deficiency 75376 Dominant radial drusen Donath-Landsteiner hemolytic 90035 anemia 90035 Donath-Landsteiner syndrome 2143 Donnai-Barrow syndrome 508 Donohue syndrome 79500 DOOR syndrome 79500 DOORS syndrome 1942 Doose syndrome Dopa-responsive dystonia due to 70594 sepiapterin reductase deficiency Dopamine beta-hydroxylase 230 deficiency 98907 Dorfman-Chanarin disease 3426 DORV DORV with atrioventricular septal 423712 defect, pulmonary stenosis, heterotaxy DORV with non-committed 99046 subpulmonary VSD DORV with subaortic or doubly 423693 committed VSD DORV with subaortic or doubly 99043 committed VSD with pulmonary stenosis 99045 DORV with subpulmonary VSD 99043 DORV, Fallot type 99045 DORV-TGA 869 Double A syndrome 216694 Double discordance 1464 Double inlet left ventricle 141091 Double nose 3427 Double outlet left ventricle 3426 Double outlet right ventricle Double outlet right ventricle with 423712 atrioventricular septal defect, pulmonary stenosis, heterotaxy Double outlet right ventricle with →423693 doubly committed ventricular septal defect Double outlet right ventricle with 99046 non-committed subpulmonary ventricular septal defect Double outlet right ventricle with 423693 subaortic or doubly committed ventricular septal defect 898



57

ORPHA number

Disease name

Double outlet right ventricle with subaortic or doubly committed 99043 ventricular septal defect with pulmonary stenosis Double outlet right ventricle with →423693 subaortic ventricular septal defect Double outlet right ventricle with 99045 subpulmonary ventricular septal defect Double outlet right ventricle with 99045 transposition of the great arteries Double outlet right ventricle, 99043 Fallot type Double tachycardia induced by 3286 catecholamines Double uterus and obstructed 3411 hemivagina syndrome Double uterus-hemivagina-renal 3411 agenesis syndrome 8 Double Y syndrome 95474 Double-orifice mitral valve 79145 Dowling-Degos disease 870 Down syndrome Doyne honeycomb retinal 75376 dystrophy 86309 DPAGT1-CDG 314621 DPG-plus syndrome 71274 DPL 79322 DPM1-CDG 329178 DPM2-CDG 263494 DPM3-CDG 231 Dracunculiasis 231 Dracunculosis 220 Drash syndrome 33069 Dravet syndrome →79500 DRC syndrome 70594 DRD due to SRD 130 Dream disease 139402 DRESS syndrome 101 DRPLA 233 DRS 18 dRTA →402041 dRTA type 1b →402041 dRTA type 1c 93610 dRTA with anemia Drug or radiation exposure-related 264978 interstitial lung disease Drug rash with eosinophilia and 139402 systemic symptoms Drug reaction eosinophilic 139402 systemic syndrome 90037 Drug-induced AIHA Drug-induced autoimmune 90037 hemolytic anemia

ORPHA number

Disease name

Drug-induced localized lipodystrophy Drug-induced lupus 231111 erythematosus Drug-induced 464453 methemoglobinemia 251325 Drug-induced vasculitis Drug-related renal tubular 97368 dysgenesis 94086 Drummond syndrome 33069 DS 99887 DS-AMKL 98920 dSMA1 139525 dSMA2 139547 dSMA3 206580 dSMA4 314485 dSMA5 139557 DSMAX 83469 DSRCT DST-related epidermolysis bullosa 412181 simplex 99789 DTDP1 99791 DTDP2 2639 Du Pan syndrome Duane anomaly-myopathy50817 scoliosis syndrome 233 Duane retraction syndrome 233 Duane syndrome 93293 Duane-radial ray syndrome Duane-radial ray syndrome due to 261647 a point mutation Duane-radial ray syndrome due to 261638 monosomy 20q13 234 Dubin-Johnson syndrome 234 Dubin-Sprinz disease 235 Dubowitz syndrome 98896 Duchenne muscular dystrophy 280315 Duct-centric pancreatitis 2442 Duncan disease 2348 Dunnigan syndrome Duodenal and extrahepatic biliary →293864 atresia-hypoplastic pancreasintestinal malrotation syndrome 1203 Duodenal atresia 261102 Dup7q11.23D 250994 Dup(1)(q21.1) 313947 Dup(2)(q23.1) 294026 Dup(2)(q31.1) 96095 Dup(3)(q26) 96095 dup(3q) syndrome 329802 Dup(5)(p13) 228415 Dup(5)(q35) 314034 Dup(7)(p22.1) 96121 Dup(7)(q11.23) 90157

ORPHA Disease name number 459074 Dup(7)(q36.3) 251076 Dup(8)(p23.1p23.1) 228399 Dup(8)(q12) 276422 Dup(10)(q22.3q23.3) 300305 Dup(11)p(15.4) 261229 Dup(14)(q11.2) 488280 Dup(14)q(32) 238446 Dup(15)(q11q13) 261204 Dup(16)(p11.2p12.2) 261243 Dup(16)(p13.11) 96078 Dup(16)(p13.3) 477817 Dup(17)(p11.2p12) 217385 Dup(17)(p13.3) 139474 Dup(17)(q11.2) 261272 Dup(17)(q12) 217340 Dup(17)(q21.31) 261290 Dup(17p) 447980 Dup(19)(p13.13) 363659 Dup(20)(q11.2) 261318 Dup(20p) 1727 Dup(22)(q11) 284180 Dup(X)(p22) 284180 Dup(X)(p22.13p22.2) 314389 Dup(X)(q12-q13.3) 261483 Dup(X)(q27.3q28) 261344 Duplication 1q 1738 Duplication 4p 1742 Duplication 5p 264450 Duplication 8p 1752 Duplication 8q 96167 Duplication 8q/deletion 8p 236

Duplication 9p Duplication 12p Duplication 18p 1727 Duplication 22q11.2 261318 Duplication of 20p 314621 Duplication of the pituitary gland Duplication of the pituitary gland314621 plus syndrome Duplication of the short arm of 1738 chromosome 4 Duplication of the short arm of 1742 chromosome 5 Duplication of the short arm of 236 chromosome 9 Duplication of the short arm of 1715 chromosome 18 237 Duplication of urethra 284180 Duplication Xp22 3306 Duplication/inversion 15q11 97339 Dural sinus malformation 1656 Durhing-Brocq disease 233 DURS →331176 Dursun syndrome 1699 1715



58

ORPHA Disease name number 98984 Dusty cataract 3377 Dutch-Kentucky syndrome →969 →2616 1566 239 2274 464306

268261

464311 296 1765 41 241 251946 251975 1766 99912

3010 1775 3088 412 1779 289553 1780 2104

2282

2282 1782 800 1798

Dwarfism-stiff joint-ocular abnormalities syndrome Dwarfism-tall vertebrae syndrome DWM with postaxial polydactyly Dyggve-Melchior-Clausen disease Dykes-Marks-Harper syndrome DYRK1A-related intellectual disability syndrome DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion DYRK1A-related intellectual disability syndrome due to a point mutation Dyschondroplasia Dyschondrosteosis-nephritis syndrome Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria Dysembryoplastic neuroepithelial tumor Dysembryoplastic neuroepithelial tumor of cerebellum Dysequilibrium syndrome Dysgerminomatous germ cell cancer of the ovary Dysharmonic skeletal maturationmuscular fiber disproportion syndrome Dyskeratosis congenita Dyskeratosis congenita with bilateral exudative retinopathy Dyslipidemia type 3 Dysmorphism-cleft palate-loose skin syndrome Dysmorphism-conductive hearing loss-heart defect syndrome Dysmorphism-multiple structural anomalies syndrome Dysmorphism-pectus carinatumjoint laxity syndrome Dysmorphism-short staturedeafness-disorder of sex development syndrome Dysmorphism-short staturedeafness-pseudohermaphroditism syndrome Dysosteosclerosis Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Dysostosis, Stanescu type

ORPHA Disease name number 99082 Dysphagia lusoria 1822 Dysplasia epiphysealis hemimelica

ORPHA number

Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dysplastic gangliocytoma of the cerebellum Dysprothrombinemia Dysraphism-cleft lip/palate-limb reduction defects syndrome Dyssegmental dysplasia, RollandDesbuquois type Dyssegmental dysplasia, Silverman-Handmaker type Dyssegmental dysplasia-glaucoma syndrome Dysspondyloenchondromatosis Dystonia 12 Dystonia 14 Dystonia 16 Dystonia 18 Dystonia 23 Dystonia 24 Dystonia 25 Dystonia musculorum deformans Dystonia-aphonia syndrome Dystonia-parkinsonism, PaisanRuiz type Dystrophia Helsinglandica Dystrophia Smolandiensis Dystrophic epidermolysis bullosa inversa Dystrophic epidermolysis bullosa pruriginosa Dystrophic epidermolysis bullosa, nails only DYT1 DYT2 DYT3 DYT4 DYT5a DYT5b DYT6 DYT9 DYT12 DYT13 DYT14 DYT15 DYT16 DYT18 DYT21 DYT23 DYT24 DYT25

231249

168621 2204 65285 325 2476 156731 1865 1804 85198 71517 →98808 210571 98811 420492 420485 329466 256 412217 199351 293381 293381 79409 89843 158676 256 99657 53351 98805 98808 101150 98806 53583 71517 98807 →98808 →36899 210571 98811 306734 420492 420485 329466

2394

2970 40923 2554 1934

1934 1935 1935 98988 98988 1020 98815 98985 1177 84132 1667 210571 488635

289266

411986

1020 494348 256 256 88660 324290 441452 79242

Disease name

E3-deficient maple syrup urine disease E-beta-thalassemia Eagle-Barret syndrome Eales disease Ear-patella-short stature syndrome Early infantile epileptic encephalopathy Early infantile epileptic encephalopathy with suppressionbursts Early myoclonic encephalopathy Early myoclonic encephalopathy with suppression-bursts Early-onset anterior polar cataract Early-onset anterior subcapsular cataract Early-onset autosomal dominant Alzheimer disease Early-onset benign childhood occipital epilepsy Early-onset cataract with Y-shaped suture opacities Early-onset cerebellar ataxia with retained tendon reflexes Early-onset desmin-related myopathy Early-onset diabetes mellitus with multiple epiphyseal dysplasia Early-onset dystonia parkinsonism Early-onset epilepsy-intellectual disability-brain anomalies syndrome Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy-cortical blindnessintellectual disability-facial dysmorphism syndrome Early-onset familial autosomal dominant Alzheimer disease Early-onset familial noncirrhotic portal hypertension Early-onset generalized limb-onset dystonia Early-onset generalized torsion dystonia Early-onset hypertension with exacerbation in pregnancy Early-onset Lafora body disease Early-onset lamellar cataract Early-onset multiple carboxylase deficiency



59

ORPHA number 289377

439212

91492 98991 2828 2379 98992 98993 441447 256 157941

496641

500144

496756

352654 →90340 96369 364055

313772 98985 256 1243 98890 98995 199343 391320 83594 83594 1973 166418 166418 166418 86880

Disease name

Early-onset myopathy with fatal cardiomyopathy Early-onset myopathy-areflexiarespiratory distress-dysphagia syndrome Early-onset non-syndromic cataract Early-onset nuclear cataract Early-onset Parkinson disease Early-onset parkinsonismintellectual disability syndrome Early-onset partial cataract Early-onset posterior polar cataract Early-onset posterior subcapsular cataract Early-onset primary dystonia Early-onset prion disease with prominent psychiatric features Early-onset progressive diffuse brain atrophy-microcephalymuscle weakness-optic atrophy syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-spastic ataxiadistal spinal muscular atrophy syndrome Early-onset progressive neurodegeneration-blindnessataxia-spasticity syndrome Early-onset sarcoidosis Early-onset schizophrenia Early-onset severe retinal dystrophy Early-onset spastic ataxiamyoclonic epilepsy-neuropathy syndrome Early-onset sutural cataract Early-onset torsion dystonia Early-onset vitelliform macular dystrophy Early-onset X-linked optic atrophy Early-onset zonular cataract EAST syndrome East Texas bleeding disorder Eastern equine encephalitis Eastern equine encephalomyelitis Eastman-Bixler syndrome Eating epilepsy Eating reflex epilepsy Eating seizures EATL

ORPHA Disease name number 79406 EB progressive 79405 EBJ-I 98956

412181 EBS-AR BP230 412189 EBS-AR exophilin 5 89838 EBS-AR KRT14

79401 158684 89839 1880 1880 313920 289661 313920 494424 494424 50944 284 199332 →1896 99102 99102 99101 99101 35737 →1071 69083 1816 →1071 1818 →1658 140936 →2036 1806 3354

1897

1812

1883

EBS-loc

257 EBS-MD 158681 EBS-migr 79397

247827

EBMD

319218 Ebola fever 319218 Ebola hemorrhagic fever 319218 Ebola virus disease

79400

ORPHA number

EBS-MP EBS-O EBS-PA EBSS Ebstein anomaly of the tricuspid valve Ebstein malformation EBV-associated gastric carcinoma EBV-positive DLBCL of the elderly EBVaGC ECAA ECCA Eccrine tumors-ectodermal dysplasia Echinococcus multilocularis infection ECO syndrome ECP syndrome Ectasia of the left atrial appendage Ectasia of the left auricle Ectasia of the right atrial appendage Ectasia of the right atrial auricle Ectasic coloboma Ectodermal dysplasia syndrome, Rapp-Hodgkin type Ectodermal dysplasia with natal teeth, Turnpenny type Ectodermal dysplasia, Berlin type Ectodermal dysplasia, RappHodgkin type Ectodermal dysplasia, trichoodontoonychial type Ectodermal dysplasia-absent dermatoglyphs syndrome Ectodermal dysplasia-acanthosis nigricans syndrome Ectodermal dysplasia-adrenal cyst syndrome Ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-cataractskyphoscoliosis syndrome

1883

423454 158668 247820 448270 1885 1884 99889 231632 99889 95496 2440 294992 295122 295120 →1896 →1896 1896 1892 1894 1997 906 98813 247827 293936 1895 93308 93307 93311 261

Disease name

Ectodermal dysplasia-cutaneous syndactyly syndrome Ectodermal dysplasiaectrodactyly-macular dystrophy syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasiasensorineural deafness syndrome Ectodermal dysplasiasensorineural hearing loss syndrome Ectodermal dysplasia-short stature syndrome Ectodermal dysplasia-skin fragility syndrome Ectodermal dysplasia-syndactyly syndrome Ectopia cordis Ectopia lentis syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopic ACTH secreting tumor Ectopic aldosterone-producing tumor Ectopic Cushing syndrome Ectopic neurohypophysis Ectrodactyly Ectrodactyly of hand Ectrodactyly of hand, bilateral Ectrodactyly of hand, unilateral Ectrodactyly-cleft palate syndrome Ectrodactyly-ectodermal dysplasia without clefting syndrome Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome Ectrodactyly-polydactyly syndrome Ectrodactyly-spina bifidacardiopathy syndrome Ectropion inferior-cleft lip and/or palate syndrome Eczema-thrombocytopeniaimmunodeficiency syndrome EDA-ID EDCS EDICT syndrome Edinburgh malformation syndrome EDM1 EDM4 EDM5 EDMD



60

ORPHA number 98853 EDMD2 98855 EDMD3 90309 90318 285 286 198 286 75497 1900 1899 99875 99876 1901 75392 82004

300179

300179 75501 2295 2953 230851 287 230839 2953 300179 1900 2953 1900 75496 157965 230845 230857 247820 247820 247827 178464 3380 2668 322 1896 →1896 1897 357131 101039 2070

Disease name

EDS I EDS II EDS III EDS IV EDS IX EDS type 4 EDS V EDS VIA EDS VII EDS VIIA EDS VIIB EDS VIIC EDS VIII EDS with periventricular heterotopia EDS with progressive kyphoscoliosis, myopathy, and deafness EDS with progressive kyphoscoliosis, myopathy, and hearing loss EDS X EDS XI EDS, arthrogryposic type EDS, cardiac valvular type EDS, classic type EDS, classic-like type EDS, Kosho type EDS, kyphoscoliotic and hearing loss type EDS, kyphoscoliotic type EDS, musculocontractural type EDS, oculoscoliotic type EDS, progeroid type EDS, spondylocheirodysplastic type EDS, vascular-like type EDS/OI syndrome EDSS EDSS1 EDSS2 Edström Myopathy Edwards syndrome Edwards-Patton-Dilly syndrome EEC EEC syndrome EEC syndrome without cleft lip/palate EEM syndrome Effort subclavian vein thrombosis EFMR EGE

ORPHA number 183 EGPA 319218 EHF 312 230839 90309 90318 285 286 75497 1900 1899 99875 99876 1901 75392 198 75501 2295 286 198 82004

75501

300179

300179

1899 1899 2953 230851 287 230839 1901 75501 75501 285 285

Disease name

EHK Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome type 1 Ehlers-Danlos syndrome type 2 Ehlers-Danlos syndrome type 3 Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type 5 Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome type 7 Ehlers-Danlos syndrome type 7A Ehlers-Danlos syndrome type 7B Ehlers-Danlos syndrome type 7C Ehlers-Danlos syndrome type 8 Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type 10 Ehlers-Danlos syndrome type 11 Ehlers-Danlos syndrome type IV Ehlers-Danlos syndrome type IX Ehlers-Danlos syndrome with periventricular heterotopia Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Ehlers-Danlos syndrome, arthrochalasia type Ehlers-Danlos syndrome, arthrochalasis type Ehlers-Danlos syndrome, arthrogryposic type Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, classiclike type Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome, fibronectin-deficient Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndrome, hypermobile type Ehlers-Danlos syndrome, hypermobility type


300179

1900 2953 1900 75392 75496 157965 286 230845 230857 1902 820 312 1934 165991 79106 97214 476096 317 228240 228243 228254 79148 228236 33445 221054 289 2516 1299 1997 96170 439212 1942 3226 180226 48736 48736 99757 178315

Disease name

Ehlers-Danlos syndrome, Kosho type Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, oculoscoliotic type Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome, progeroid type Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascularlike type Ehlers-Danlos/osteogenesis imperfecta syndrome Ehrlichiosis Ehrmann-Sneddon syndrome EI EIEE EIHI Eiken syndrome Eisenmenger syndrome EKC syndrome EKV Elastoderma Elastofibroma dorsi Elastoma Elastosis perforans serpiginosa Elastotic striae Elejalde disease Elejalde syndrome Ellis Van Creveld syndrome Ellis-Yale-Winter syndrome Elsahy-Waters syndrome Elsching syndrome Emanuel syndrome EMARDD EMAS Emberger syndrome Embryonal carcinoma Embryonal carcinoma of the central nervous system Embryonal carcinoma of the CNS Embryonal rhabdomyosarcoma Embryonal sarcoma of the liver



61

ORPHA number 1664 983 139431 261 1927 485418 83600 221126 2396 3205 71277 79155 139406 833 210128 51

51

319678

1261 3205 296 99075 199332 876 252006 252006 98974 213741 213726 213716 213711 213746

Disease name

Embryonary disorganization syndrome Embryonic testicular regression syndrome EMEA Emery-Dreifuss muscular dystrophy Emery-Nelson syndrome EMILIN-1-related connective tissue disease Encephalitis lethargica Encephaloclastic proliferative vasculopathy Encephalocraniocutaneous lipomatosis Encephalofacial angiomatosis Encephalopathy due to GLUT1 deficiency Encephalopathy due to hydroxykynureninuria Encephalopathy due to prosaposin deficiency Encephalopathy due to sulfite oxidase deficiency Encephalopathy due to urocanase deficiency Encephalopathy with basal ganglia calcification Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Encephalopathy-intracerebral calcification-retinal degeneration syndrome Encephalotrigeminal angiomatosis Enchondromatosis Encircling double aortic arch Endocrine-cerebro-osteodysplasia syndrome Endodermal sinus tumor Endodermal sinus tumor of central nervous system Endodermal sinus tumor of CNS Endoepithelial corneal dystrophy Endometrial adenoid cystic carcinoma Endometrial capillary carcinoma Endometrial squamous cell carcinoma Endometrial stromal sarcoma Endometrial transitional cell carcinoma

ORPHA number 213721 454723 2022 199323 209959 85186

293936 137602 1937 53540 60015 83620 141071 86880 86880 85438 85438 1177 1177 370334 73247 1020 168829 449566 901 402035 75566 2070 73247 3165 2070 2070 99871 183 482 364055 256 251880 251636 99169 185

231742 83314

Disease name

Endometrial undifferentiated carcinoma Endometrioid carcinoma of ovary Endomyocardial fibroelastosis Endophthalmitis Endophthalmitis phacoanaphylactica Endosteal sclerosis-cerebellar hypoplasia syndrome Endothelial dystrophy-iris hypoplasia-congenital cataractstromal thinning syndrome Endotheliitis Eng-Strom syndrome Enhanced S-cone syndrome Enlarged parietal foramina Enteric anendocrinosis Enteric duplication cyst of the tongue Enteropathy-associated T-cell lymphoma Enteropathy-type T-cell lymphoma Enthesitis-related JIA Enthesitis-related juvenile idiopathic arthritis EOCA EOCARR EOE EoE EOFAD EOPPC Eosinophilic angiocentric fibrosis Eosinophilic cellulitis Eosinophilic colitis Eosinophilic endocarditis Eosinophilic enteritis Eosinophilic esophagitis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic gastroenterocolitis Eosinophilic granuloma Eosinophilic granulomatosis with polyangiitis Eosinophilic lymphogranuloma EOSRD EOTD Ependymoblastoma Ependymoma Epiblepharon Epibronchial right pulmonary vein syndrome Epibulbar lipodermoidpreauricular appendage-polythelia syndrome Epidemic typhus

ORPHA Disease name number 35125 Epidermal hamartoma syndrome 35125 Epidermal nevus syndrome 497737 302 46487 79404 412181 412189 158668 79400 89839 2325 158681 79397 257 158684 79396 79396 79399 79399 79401 79400 497737 312 312 497737 2199 2199 2199 141077 65683 86911 1942

Epidermal nevus with epidermolytic hyperkeratosis Epidermodysplasia verruciformis Epidermolysis bullosa acquisita Epidermolysis bullosa letalis Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex due to plakophilin deficiency Epidermolysis bullosa simplex of palms and soles Epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with mottled pigmentation Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, herpetiformis Epidermolysis bullosa simplex, Köbner type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolytic epidermal nevus Epidermolytic hyperkeratosis Epidermolytic ichthyosis Epidermolytic nevus Epidermolytic palmoplantar keratoderma Epidermolytic palmoplantar keratoderma of Voerner Epidermolytic palmoplantar keratoderma of Vörner Epignathus Epilepsy due to FCD Epilepsy with myoclonic absences Epilepsy with myoclonic-astatic seizures



62

ORPHA number 1942

411986

1946 1948 1951 725

353217 79238 1819 1825

1824

1952

496751 399329 399329 649 37612 97 79135 79136 211067 209967 209970 401953 37612 401953 79135 53583 29822 93928 98956 293381 103912

Disease name

Epilepsy with myoclonic-atonic seizures Epilepsy-cortical blindnessintellectual disability-facial dysmorphism syndrome Epilepsy-dementia-amelogenesis imperfecta syndrome Epilepsy-microcephaly-skeletal dysplasia syndrome Epilepsy-telangiectasia syndrome Epileptic encephalopathy with continuous spike-and-wave during slow sleep Epileptic encephalopathy with global cerebral demyelination Epimerase deficiency galactosemia Epimetaphyseal skeletal dysplasia Epiphyseal dysplasia-hearing lossdysmorphism syndrome Epiphyseal dysplasiamicrocephaly-nystagmus syndrome Epiphyseal stippling syndromeosteoclastic hyperplasia syndrome Epiphysial-vertebral-ear dysplasianose-plus associated findings syndrome Epiphysiolysis of the hip Epiphysiolysis of the upper femur Episkopi blindness Episodic ataxia type 1 Episodic ataxia type 2 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6 Episodic ataxia type 7 Episodic ataxia type 8 Episodic ataxia with myokymia Episodic ataxia with slurred speech Episodic ataxia-vertigo-tinnitusmyokymia syndrome Episodic choreoathetosis/spasticity Episodic spontaneous hypothermia Epispadias Epithelial basement membrane dystrophy Epithelial recurrent erosion dystrophy Epithelio-exfoliative colitisdeafness syndrome

ORPHA number

Disease name

Epithelioid hemangioendothelioma 293202 Epithelioid sarcoma 254698 Epithelioid trophoblastic tumor Epithelioma calcificans of 91414 Malherbe 501 EPM2 263516 EPM3 163696 EPM4 402082 EPM5 280620 EPM6 435438 EPM7 424027 EPM8 457265 EPM9 79278 EPP 2199 EPPK →182050 Epstein syndrome Epstein-Barr virus-associated 313920 gastric carcinoma Epstein-Barr virus-positive diffuse 289661 large B-cell lymphoma of the elderly 85438 ERA 35687 Erdheim-Chester disease 293381 ERED 999 Ermine phenotype 160148 Eroded polypoid hyperplasia Eronen-Somer-Gustafsson →79500 syndrome Erosive pustular dermatosis of the 222 scalp 228264 Eruptive collagenoma 90000 Erythema elevatum diutinum 231031 Erythema palmare hereditarium Erythrocyte epimerase deficiency 308473 galactosemia Erythrocyte galactose epimerase 308473 deficiency 308473 Erythrocyte GALE deficiency 308473 Erythrocyte GALE-D Erythrocyte lactate transporter 171690 defect Erythrocyte UDP-galactose-4308473 epimerase deficiency Erythrocyte uridine diphosphate 308473 galactose-4-epimerase deficiency 314 Erythroderma desquamativum 79394 Erythrodermic ichthyosis 247165 Erythroedema polyneuritis Erythrokeratoderma "en 315 cocardes" Erythrokeratodermia progressiva 316 symmetrica 317 Erythrokeratodermia variabilis

ORPHA number

157791

317 1955 476096 50943 318 1956 280379 99977 2405 2990 2990 99976 1199 418945 100047 99977 99977 91138 2056 98981 91138 2843 3318 3318 1957 785 3318 31826 51188 983 86880 2892 99172 466682 466682 1959 444463 496751 2990 251927 319 99734 165991 165991

Disease name

Erythrokeratodermia variabilis, Mendes da Costa type Erythrokeratodermia with ataxia Erythrokeratodermiacardiomyopathy syndrome Erythrokeratolysis hiemalis Erythroleukemia Erythromelalgia Erythropoietic uroporphyria associated with myeloid malignancy ESCC Escher-Hirt syndrome Escobar syndrome Escobar variant multiple pterygium syndrome Esophageal adenocarcinoma Esophageal atresia Esophageal carcinoma, salivary gland type Esophageal duplication cyst Esophageal epidermoid carcinoma Esophageal squamous cell carcinoma Essential cryoglobulinemia Essential fructosuria Essential iris atrophy Essential mixed cryoglobulinemia Essential pentosuria Essential thrombocythemia Essential thrombocytosis Esthesioneuroblastoma Estrogen resistance syndrome ET Ethylene glycol poisoning Ethylmalonic encephalopathy ETRS ETTL Euhidrotic ectodermal dysplasia Euryblepharon Euthyroid Graves ophthalmopathy Euthyroid Graves orbitopathy Evans syndrome Evans syndrome associated with primary immunodeficiency EVEN-plus syndrome EVMPS EVN Ewing sarcoma Exercise-induced delayed-onset myotonia Exercise-induced hyperinsulinemic hypoglycemia Exercise-induced hyperinsulinism



63

ORPHA number 466650 466650 289586 →955 116 1962 374 322 440724 3294 141074

3023

141074 231632 168829 494424 66662 182127 883 280811 280811 2800 86850 100022 100002 52417 86879 370334 370334 370334 370334 209916

1964 251927

Disease name

Exercise-induced malignant hyperthermia Exertional heat stroke Exfoliative ichthyosis Exner syndrome Exomphalos-macroglossiagigantism syndrome Exostoses-anetodermiabrachydactyly type E syndrome Expanded spectrum hemifacial microsomia Exstrophy-epispadias complex Extensive peripapillary myelinated nerve fibers Extensor tendons of finger anomalies External auditory canal aplasia/hypoplasia External auditory canal atresiavertical talus-hypertelorism syndrome External auditory canal stenosis/atresia Extra-adrenal aldosteroneproducing tumor Extra-ovarian primary peritoneal carcinoma Extracranial carotid artery aneurysm Extracutaneous mastocytoma Extragonadal germinoma Extragonadal teratoma Extralobar congenital bronchopulmonary sequestration Extralobar congenital pulmonary sequestration Extramammary Paget disease Extramedullary myeloid tumor Extramedullary soft tissue plasmacytoma Extraneural perineurioma Extranodal marginal zone B-cell lymphoma Extranodal nasal NK/T cell lymphoma Extraosseous Ewing sarcoma Extraosseous Ewing tumor Extraskeletal Ewing sarcoma Extraskeletal Ewing tumor Extraskeletal myxoid chondrosarcoma Extrasystoles-short staturehyperpigmentation-microcephaly syndrome Extraventricular neurocytoma

ORPHA number 2725 3172 139431 35909 957 95 324 1969 1167 141051 480701 480701 480701

→3157

1969

284169

466950

352712

2588

412022

412022

1970

1778 221083 3020 3020

Disease name

Eye defects-arachnodactylycardiopathy syndrome Eyebrow duplication-syndactyly syndrome Eyelid myoclonia with and without absences F5F8D F syndrome FA Fabry disease FACES syndrome Facial asymmetry-temporal seizures syndrome Facial dermoid cyst Facial diplegia with paresthesias Facial diplegia with paresthesias variant of GBS Facial diplegia with paresthesias variant of Guillain-Barré syndrome Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome Facial dysmorphism-anorexiacachexia-eye and skin anomalies syndrome Facial dysmorphismdevelopmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphismdevelopmental delay-behavioral abnormalities syndrome due to WAC point mutation Facial dysmorphismimmunodeficiency-livedo-short stature syndrome Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Facial dysmorphismmacrocephaly-myopia-DandyWalker malformation syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Facial hemispasm Facial nerve palsy due to herpes zoster infection Facial nerve palsy due to VZV

ORPHA Disease name number 3020 Facial nerve paralysis due to VZV

Facial onset sensory and motor neuronopathy 3237 Facio-audio-symphalangism Facio-digito-genital syndrome, 1974 Kuwait type 1300 Facio-genito-popliteal syndrome Facio-oculo-acoustico-renal 2143 syndrome Facio-pharyngo-glossal diplegia 2048 with automatic-voluntary movement dissociation Facio-pharyngo-glosso2048 masticatory diplegia 374 Facioauriculovertebral dysplasia 1973 Faciocardiorenal syndrome 3071 Faciocutaneoskeletal syndrome 915 Faciodigitogenital syndrome 915 Faciogenital dysplasia 269 Facioscapulohumeral dystrophy Facioscapulohumeral muscular 269 dystrophy 269 Facioscapulohumeral myopathy 98879 Factor IX deficiency 220436 Factor V Quebec 98878 Factor VIII deficiency 300359 FACU 306550 FADD-related immunodeficiency 994 FADS 882 FAH deficiency 329308 FAHN →168569 Faisalabad histiocytosis Fallot complex-intellectual 3304 disability-growth delay syndrome 86814 FAME 397685 Familial hyperprolactinemia Familial abdominal aortic 86 aneurysm Familial acute necrotizing 88619 encephalopathy 733 Familial adenomatous polyposis Familial adenomatous polyposis 261584 due to 5q22.2 microdeletion Familial adenomatous polyposis 261584 due to del(5)(q22.2) Familial adenomatous polyposis 261584 due to monosomy 5q22.2 404 Familial adrenal adenoma Familial adrenal hypoplasia with 95700 absent pituitary LH Familial adrenal hypoplasia with 95700 absent pituitary luteinizing hormone Familial adrenal hypoplasia, 95700 miniature type 85162



64

ORPHA Disease name number 86814 Familial adult myoclonic epilepsy 164736 98880 1020 280397 319465 85450 93560 238269 93562 93561 85447 85448 85447 85448 228277 199279 91378 229 425 309020 309020 1416 334 615 436242 300359 404560 404560

404560

86820 2398 2841 1551 363989 405

Familial advanced sleep-phase syndrome Familial afibrinogenemia Familial Alzheimer disease Familial Alzheimer-like prion disease Familial AML Familial amyloid nephropathy Familial amyloid nephropathy due to apolipoprotein A-I variant Familial amyloid nephropathy due to apolipoprotein A-II variant Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Familial amyloid nephropathy due to lysozyme variant Familial amyloid polyneuropathy type I Familial amyloid polyneuropathy type IV Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type Familial amyloidosis, Finnish type Familial anetoderma Familial angiolipomatosis Familial angioneurotic edema Familial aortic dissection Familial apoA-I deficiency Familial apoC-II deficiency Familial apolipoprotein C-II deficiency Familial articular chondrocalcinosis Familial atrial fibrillation Familial atrial myxoma Familial atrial tachyarrhythmiainfra-Hisian cardiac conduction disease Familial atypical cold urticaria Familial atypical mole syndrome Familial atypical multiple mole melanoma syndrome Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial avascular necrosis of femoral head Familial benign cervical lipomatosis Familial benign chronic pemphigus Familial benign copper deficiency Familial benign flecked retina Familial benign hypercalcemia

ORPHA number 405 1551 231160 402075 221061 221061 227535 227535 36382 2678 1416 1768 464760 1416 169085 892 439254 221061 221061 231160 36382 481662 1428 444490 404560 293144 238578 293150 199315 464760 47045 247868 47045 300359 440437 238722

Disease name

Familial benign hypocalciuric hypercalcemia Familial benign hypocupremia Familial berry aneurysm Familial bicuspid aortic valve Familial brain cavernous angioma Familial brain cavernous hemangioma Familial breast cancer Familial breast carcinoma Familial CAD Familial café-au-lait spots Familial calcium pyrophosphate deposition Familial caudal dysgenesis Familial cavitary optic disc anomaly Familial CC Familial CD8 deficiency Familial cerebelloretinal angiomatosis Familial cerebral amyloid angiopathy Familial cerebral cavernoma Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial cervical artery dissection Familial Chilblain lupus Familial chondromalacia patellae Familial chylomicronemia syndrome Familial Clark nevus syndrome Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies Familial CODA Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome type 2 Familial cold urticaria Familial cold urticaria with common variable immunodeficiency Familial colorectal cancer Type X Familial congenital controlateral synkinesia

ORPHA number 95494 238722 451612 91498 86814 319189 1416 85453 53296 313846 211 97345 97346 313808 1799 26106 26106 85169

300751 18 85192 75376 1764 314381 412 98881 324588 404560 1885 2762 85110 391384 391392

391389 90042 225968

Disease name

Familial congenital hypopituitarism Familial congenital mirror movements Familial congenital nasolacrimal duct obstruction Familial congenital palsy of trochlear nerve Familial cortical myoclonic tremor and epilepsy Familial cortical myoclonus Familial CPPD Familial cutaneous amyloidosis Familial cutaneous collagenoma Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Familial cylindromatosis Familial dementia, British type Familial dementia, Danish type Familial dementia, Neumann type Familial developmental dysphasia Familial diffuse cancer of stomach Familial diffuse gastric cancer Familial digital arthropathybrachydactyly Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial distal primary acidosis Familial doughnut lesions of skull Familial drusen Familial dysautonomia Familial dysautonomia with contractures Familial dysbetalipoproteinemia Familial dysfibrinogenemia Familial dyskinesia and facial myokymia Familial dysplastic nevus syndrome Familial ectopia lentis Familial ectopic ossification Familial encephalopathy with neuroserpin inclusion bodies Familial episodic pain syndrome Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement Familial erythrocytosis Familial essential thrombocythemia



65

ORPHA Disease name number 85195 Familial expansile osteolysis 891 98820 314022 464756 231040 99819 361 3000

540 32960 540 2604 403 404 251274 403 404 251274 79506

94086 238475 178345 757 682 412

306661

682 99763 99764 424

Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial fundic gland polyposis with gastric cancer Familial gastric type 1 neuroendocrine tumor Familial generalized lentiginosis Familial gestational hyperthyroidism Familial glucocorticoid deficiency Familial gonadotropinindependent male-limited sexual precocity Familial hemophagocytic lymphohistiocytosis Familial Hibernian fever Familial HLH Familial hollow visceral myopathy Familial hyperaldosteronism type 1 Familial hyperaldosteronism type 2 Familial hyperaldosteronism type 3 Familial hyperaldosteronism type I Familial hyperaldosteronism type II Familial hyperaldosteronism type III Familial hyperalphalipoproteinemia Familial hypercalcemianephrocalcinosis-indicanuria syndrome Familial hypercholanemia Familial hyperestrogenism Familial hyperkalemic hypertension Familial hyperkalemic periodic paralysis Familial hyperlipoproteinemia type 3 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome Familial hyperPP Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 2 Familial hyperthyroidism due to mutations in TSH receptor

ORPHA Disease name number 427 Familial hypoaldosteronism 425 405 93372 101049 101050 248408 101041 440 225154 1677 656 656

93214

93217

93213

93213

93216

225154 300373 448348 448372 448372

300547

352582 352582 225154 225154

Familial hypoalphalipoproteinemia Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial hypospadias Familial IBSN Familial idiopathic dilatation of the right atrium Familial idiopathic nephrotic syndrome Familial idiopathic steroidresistant nephrotic syndrome Familial idiopathic steroidresistant nephrotic syndrome with diffuse mesangial proliferation Familial idiopathic steroidresistant nephrotic syndrome with diffuse mesangial sclerosis Familial idiopathic steroidresistant nephrotic syndrome with focal segmental glomerulosclerosis Familial idiopathic steroidresistant nephrotic syndrome with focal segmental hyalinosis Familial idiopathic steroidresistant nephrotic syndrome with minimal changes Familial infantile bilateral striatal necrosis Familial infantile gigantism Familial infantile gigantism due to a point mutation Familial infantile gigantism due to dup(X)q(26) Familial infantile gigantism due to Xq26 microduplication Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familial infantile myoclonic epilepsy Familial infantile myoclonus epilepsy Familial infantile striatonigral degeneration Familial infantile striatonigral necrosis

ORPHA number 2454 2300 231160 217656 217656 217656

293899

293910

293888

293910

217656

293899

293910

293888

293910 217656 217656 295014 101351 154 99879 2238

2239

189466

Disease name

Familial intestinal malrotationfacial anomalies syndrome Familial intestinal polyatresia syndrome Familial intracranial saccular aneurysm Familial isolated arrhythmogenic right ventricular cardiomyopathy Familial isolated arrhythmogenic right ventricular dysplasia Familial isolated arrhythmogenic ventricular cardiomyopathy Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form Familial isolated arrhythmogenic ventricular dysplasia Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, classic form Familial isolated arrhythmogenic ventricular dysplasia, left dominant form Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Familial isolated ARVC Familial isolated ARVD Familial isolated clinodactyly of fingers Familial isolated congenital asplenia Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism Familial isolated hypoparathyroidism Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Familial isolated hypoparathyroidism due to impaired PTH secretion



66

ORPHA number 314777 397685 75249 411788 96 2295 2295 180176 209886 180176 209886 217330 493 293936 3267 79293 523 523 523 231040 871 871 871 309015 768 75381 3000 401942 342 99361 35858 618 165805 741 276399 495930 99361 276399

Disease name

Familial isolated pituitary adenoma Familial isolated prolactin receptor deficiency Familial isolated restrictive cardiomyopathy Familial isolated trichomegaly Familial isolated vitamin E deficiency Familial joint instability syndrome Familial joint laxity Familial juvenile gigantomastia Familial juvenile gouty nephropathy Familial juvenile hypertrophy of the breast Familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 2 Familial keratoacanthoma Familial keratoconus with cataract Familial lambdoid synostosis Familial LCAT deficiency Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis cutis et uteri Familial leiomyomatosis with renal carcinoma Familial lentigines profusa Familial Lenègre disease Familial Lev disease Familial Lev-Lenègre disease Familial lipoprotein lipase deficiency Familial long QT syndrome Familial macular edema Familial male-limited precocious puberty Familial median cleft of the upper and lower lips Familial Mediterranean fever Familial medullary thyroid carcinoma Familial megaloblastic anemia Familial melanoma Familial mesial temporal lobe epilepsy with febrile seizures Familial mitral valve prolapse Familial MNG Familial monosomy 7 syndrome Familial MTC Familial multinodular goiter

ORPHA number 35909 523 338 500

231040 199276 263662 624 624 867 922 209886 424 306658 280403 154 75249 569

443236 435329 251262 2769 2801 86820

79093 1333 1333 319487

97290 99877 99878 97 98809

Disease name

Familial multiple coagulation factor deficiency Familial multiple cutaneous leiomyomas Familial multiple fibrofolliculoma Familial multiple lentigines syndrome Familial multiple lentigines syndrome without systemic involvement Familial multiple lipomatosis Familial multiple meningioma Familial multiple nevi flammei Familial multiple port-wine stains Familial multiple trichoepithelioma Familial nasal acilia Familial nephropathy with gout Familial non-immune hyperthyroidism Familial normophosphatemic tumoral calcinosis Familial omphalocele syndrome with facial dysmorphism Familial or idiopathic dilated cardiomyopathy Familial or idiopathic restrictive cardiomyopathy Familial or sporadic hemiplegic migraine Familial orthostatic tachycardia due to norepinephrine transporter deficiency Familial ossifying fibroma Familial osteochondritis dissecans Familial osteodysplasia, Anderson type Familial osteoectasia Familial osteonecrosis of the femoral head Familial osteosclerosis with abnormalities of the nervous system and meninges Familial pancreatic cancer Familial pancreatic carcinoma Familial papillary or follicular thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial parathyroid adenoma Familial parathyroids hyperplasia Familial paroxysmal ataxia Familial paroxysmal kinesigenic dyskinesia

ORPHA Disease name number 342 Familial paroxysmal polyserositis 228140 98820 79084 2348 79083 2348 79084 466729 871 93333 29072 98809 71290

71290

330061 733 261584 99810 443062

2196

31043

34527

353220

65748

871 871 280628 79146

Familial paroxysmal ventricular fibrillation, non Brugada type Familial partial epilepsy with variable foci Familial partial lipodystrophy type 1 Familial partial lipodystrophy type 2 Familial partial lipodystrophy type 3 Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Familial patent arterial duct Familial PCCD Familial pelvis-scapular dysplasia Familial pheochromocytomaparaganglioma Familial PKD Familial platelet disorder with associated myeloid malignancy Familial platelet syndrome with predisposition to acute myelogenous leukemia Familial polymorphous light eruption of American Indians Familial polyposis coli Familial polyposis coli due to monosomy 5q22.2 Familial porencephaly Familial porphyria cutanea tarda Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Familial primary hypomagnesemia with normocalciuria and normocalcemia Familial primary localized cutaneous amyloidosis Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type Familial progressive cardiac conduction defect Familial progressive heart block Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation



67

ORPHA number

Disease name

Familial progressive retinal

ORPHA Disease name number 3197 Familial startle disease

488197 dystrophy-iris coloboma-

congenital cataract syndrome Familial progressive subcortical 313808 gliosis Familial progressive 1767 vestibulocochlear dysfunction 1331 Familial prostate cancer 90044 Familial pseudohyperkalemia Familial pseudohyperkalemia type →3202 1 Familial pterygium of the 2989 conjunctiva Familial pulmonary arterial 275777 hypertension Familial pure nonmedullary 319487 thyroid carcinoma 1675 Familial pyrimidinemia Familial reactive perforating 79147 collagenosis 46348 Familial rectal pain 69126 Familial recurrent arthritis 2809 Familial recurrent Bell palsy Familial recurrent peripheral facial 2809 palsy 85450 Familial renal amyloidosis Familial renal amyloidosis due to 93560 apolipoprotein A-I variant Familial renal amyloidosis due to 238269 apolipoprotein A-II variant Familial renal amyloidosis due to 93561 lysozyme variant 69076 Familial renal glucosuria Familial retinal arterial 284247 macroaneurysm 231108 Familial rhabdoid tumor →168569 Familial Rosaï-Dorfman disease Familial scaphocephaly syndrome, 168624 McGillivray type Familial scaphocephaly-radioulnar 171839 synostosis syndrome 3135 Familial Scheuermann disease Familial Scheuermann juvenile 3135 kyphosis 481986 Familial schizencephaly →168569 Familial SHML 51083 Familial short QT syndrome 166282 Familial sick sinus syndrome Familial sinus histiocytosis with →168569 massive lymphadenopathy 166282 Familial sinus node dysfunction 300345 Familial SLE 3135 Familial spinal osteochondrosis Familial spontaneous 2903 pneumothorax

280406

1325 2456 370034 300345 91387 98819 91387 71493 71493 329319 3324 93953 95716 53372 93583 53715 289365 2604 2808 289365 170 170 404560 404560 84 84 →2697 2088 733 261584 2792 333 333 99906 1915 3261 1915 164736 166105

439854

Familial steroid-resistant nephrotic syndrome with sensorineural deafness Familial streblodactyly with amino-aciduria Familial supernumerary nipples Familial syringomyelia Familial systemic lupus erythematosus Familial TAAD Familial temporal lobe epilepsy Familial thoracic aortic aneurysm and aortic dissection Familial thrombocythemia Familial thrombocytosis Familial thrombocytosis with transverse limb defect Familial thrombomodulin anomalies Familial thyroglossal duct cyst Familial thyroid dyshormonogenesis Familial trembling of the chin Familial TTP Familial tumoral calcinosis Familial vesicoureteral reflux Familial visceral myopathy Familial vocal cord dysfunction Familial VUR Familial woolly hair syndrome Familial wooly hair syndrome FAMM-PC syndrome FAMMM syndrome Fanconi anemia Fanconi pancytopenia Fanconi syndrome-ichthyosisdysmorphism syndrome Fanconi-Bickel disease FAP FAP due to monosomy 5q22.2 Fara-Chlupackova syndrome Farber disease Farber lipogranulomatosis Farmer's lung disease FAS FAS deficiency FASD FASPS FASTKD2-related infantile mitochondrial encephalomyopathy Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

ORPHA number

Disease name

Fatal congenital hypertrophic 439854 cardiomyopathy due to

glycogenosis Fatal congenital hypertrophic 439854 cardiomyopathy due to GSD 466 Fatal familial insomnia Fatal infantile 1561 cardioencephalomyopathy due to cytochrome C oxidase deficiency 1561 Fatal infantile COX deficiency Fatal infantile cytochrome C 1561 oxidase deficiency Fatal infantile encephalopathy 166073 with mitochondrial respiratory chain defects Fatal infantile encephalopathy 166063 with olivopontocerebellar hypoplasia Fatal infantile encephalopathy→370114 pulmonary hypertension syndrome Fatal infantile HCM due to 289527 mitochondrial complex I deficiency Fatal infantile hypertonic 280553 myofibrillar myopathy Fatal infantile hypertrophic 289527 cardiomyopathy due to mitochondrial complex I deficiency Fatal infantile hypertrophic 289527 cardiomyopathy due to NADHcoenzyme Q reductase deficiency Fatal infantile hypertrophic 289527 cardiomyopathy due to NADH-CoQ reductase deficiency Fatal infantile lactic acidosis with 17 methylmalonic aciduria Fatal mitochondrial disease due to 168566 combined oxidative phosphorylation defect type 3 Fatal mitochondrial disease due to 168566 COXPD3 Fatal post-viral neurodegenerative 391343 disorder 480773 FATCO syndrome Fatty acid alcohol oxidoreductase 816 deficiency Fatty acid hydroxylase-associated 329308 neurodegeneration 2064 Faulk-Epstein-Jones syndrome →97229 Fazio-Londe disease 405 FBH 405 FBHH FBLN1-related developmental 404451 delay-central nervous system anomaly-syndactyly syndrome 47045 FCAS 247868 FCAS2



68

ORPHA number 440437 FCCTX 98970 FCD

Disease name

268961 FCD type I 268973 FCD type Ia 268980 FCD type Ib

ORPHA Disease name number 1988 Femoral-facial syndrome 294977 295091

268987 FCD type Ic 268994 FCD type II

295089

269001 FCD type IIa 269008 FCD type IIb 272 FCMD

2019 2019

86814 99654

FCMTE FCPD 3071 FCS syndrome 47045 FCU 324 FD 324588 FDFM 26106 FDGC 412022 FDLAB syndrome Febrile infection-related epilepsy 163703 syndrome 98974 FECD →182050 Fechtner syndrome 79292 FED 247165 Feer disease 98969 Fehr corneal dystrophy Feigenbaum-Bergeron-Richardson 1192 syndrome 1305 Feingold syndrome 391641 Feingold syndrome type 1 391646 Feingold syndrome type 2 53693 Fellman disease 47612 Felty syndrome Female infertility due to oocyte 488191 meiotic arrest Female infertility due to zona 404466 pellucida defect Female pseudohermaphroditism2973 anorectal anomalies syndrome Female pseudohermaphroditism2975 skeletal anomalies syndrome Female restricted epilepsy with 101039 intellectual disability 1987 Femoral agenesis/hypoplasia Femoral agenesis/hypoplasia, 295067 bilateral Femoral agenesis/hypoplasia, 295065 unilateral 399329 Femoral head epiphysiolysis Femoral hypoplasia-unusual facies 1988 syndrome 1987 Femoral intercalary meromelia Femoral intercalary meromelia, 295067 bilateral Femoral intercalary meromelia, 295065 unilateral

2019

60015 85110 1184 45358 391384 65748 2180 157846 397922 139491 40366 994 363409 1915 1915 1908 1041 853 370076 1911 294 1912 465824 97360 85212 1912 1041 1909 1910 1055 284362 1917 1918 295 290 3312 1913

Femorotibiofibular intercalary transverse meromelia Femorotibiofibular intercalary transverse meromelia, bilateral Femorotibiofibular intercalary transverse meromelia, unilateral Femur-fibula-ulna complex Femur-fibula-ulna dysostosis Femur-fibula-ulna syndrome Fenestrae parietales symmetricae FENIB Fenton-Wilkinson-Toselano syndrome FEOM FEPS Ferguson-Smith disease Ferlini-Ragno-Calzolari syndrome Ferritin-related neurodegeneration Ferro-cerebro-cutaneous syndrome Ferroportin disease Fetal acitretin/etretinate syndrome Fetal akinesia deformation sequence Fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal alcohol spectrum disorders Fetal alcohol syndrome Fetal aminopterin syndrome Fetal anasarca Fetal and neonatal alloimmune thrombocytopenia Fetal carbamazepine syndrome Fetal cocaine syndrome Fetal cytomegalovirus syndrome Fetal dihydantoin syndrome Fetal encasement syndrome Fetal face syndrome Fetal Gaucher disease Fetal hydantoin syndrome Fetal hydrops Fetal indomethacin syndrome Fetal iodine syndrome Fetal left ventricular aneurysm Fetal lung interstitial tumor Fetal methylmercury syndrome Fetal minoxidil syndrome Fetal parvovirus syndrome Fetal rubella syndrome Fetal thalidomide syndrome Fetal trimethadione syndrome

ORPHA Disease name number 1906 Fetal valproate syndrome 1906 Fetal valproic acid syndrome

Fetal-onset olivopontocerebellar hypoplasia 95431 Feto-fetal transfusion syndrome Fetomaternal alloimmunization 69063 with antenatal glomerulopathies Fever-associated acute infantile 464724 liver failure syndrome Fever-induced refractory epileptic 163703 encephalopathy in school-aged children 891 FEVR 254492 FFA 398166 FFDD 79133 FFDD1 398173 FFDD2 1807 FFDD3 398189 FFDD4 79133 FFDD type I 398173 FFDD type II 1807 FFDD type III 398189 FFDD type IV 98820 FFEVF 1988 FFS 2019 FFU complex 93932 FG syndrome type 1 313855 FGFR2-related bent bone dysplasia 1305 FGLDS 391641 FGLDS1 391646 FGLDS2 403 FH1 404 FH2 251274 FH3 403 FH-I 404 FH-II 251274 FH-III →168569 FHC 401920 FHCC 405 FHH 93372 FHH type 1 101049 FHH type 2 101050 FHH type 3 99763 FHHA1 99764 FHHA2 FHHNC with severe ocular 2196 involvement FHHNC without severe ocular 31043 involvement 263479 FHI 397618 FHONDA syndrome 1988 FHUFS 251601 Fibrillary astrocytoma 331 Fibrin-stabilizing factor deficiency 166068



69

ORPHA number 93562 439881 477650 99654 99654 2021 337 122 401920 401920 79105 84090 2030 63999 249 2639 1118 480773 1757 93323 295083 295081 2854 93323 295083 295081 2256 79306 29207 29207 2756 99879 3255 352712 352582 1272 369979 97232 209335 2036

Disease name

Fibrinogen A alpha-chain amyloidosis Fibrinous bronchitis Fibroblastic rheumatism Fibrocalculous pancreatic diabetes Fibrocalculous pancreatopathy Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrofolliculomas with trichodiscomas and acrochordons Fibrolamellar hepatocarcinoma Fibrolamellar hepatocellular carcinoma Fibromyxosarcoma Fibronectin glomerulopathy Fibrosarcoma Fibrosing mediastinitis Fibrous dysplasia of bone Fibular aplasia-complex brachydactyly syndrome Fibular aplasia-ectrodactyly syndrome Fibular aplasia-tibial campomeliaoligosyndactyly syndrome Fibular dimelia-diplopodia syndrome Fibular hemimelia Fibular hemimelia, bilateral Fibular hemimelia, unilateral Fibular hypoplasia or aplasiafemoral bowing-oligodactyly syndrome Fibular longitudinal meromelia Fibular longitudinal meromelia, bilateral Fibular longitudinal meromelia, unilateral Fibulo-ulnar hypoplasia-renal anomalies syndrome FIC1 deficiency Fiessinger-Leroy disease Fiessinger-Leroy-Reiter syndrome Figuera syndrome FIHPT Filippi syndrome FILS syndrome FIME Fine-Lubinsky syndrome Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Fingerprint body myopathy Finkel disease Finlay-Marks syndrome

ORPHA Disease name number 839 Finnish congenital nephrosis 609 Finnish tibial muscular dystrophy 399086 1825 314777 163703 141136 141013 141013 141013 79292 98919 840 2823 2824 2820 293812 3092 209886 217330 1968 79293 98970 409 284362 2044 83451 83451 2045 199306 99734 1685 2047 69063 342 276399 3000 319487 137675 2143 308013 83451 2092 352587

Finnish upper limb-onset distal myopathy Finucane-Kurtz-Scott syndrome FIPA FIRES First branchial arch syndrome First branchial cleft anomaly First branchial cleft cyst First branchial cleft fistula Fish-eye disease Fisher syndrome Fistulous vegetative verrucous hydradenoma Fitzsimmons-Guilbert syndrome Fitzsimmons-McLachlan-Gilbert syndrome Fitzsimmons-Walson-Mellor syndrome Fixed pigmented erythema Fixed subaortic stenosis FJHN type 1 FJHN type 2 Flat face-microstomia-ear anomaly syndrome FLD Fleck corneal dystrophy Flegel disease FLIT Floating-Harbor syndrome Florid cemento-osseous dysplasia Florid osseous dysplasia FLOTCH syndrome FLP Fluctuating myotonia Fluke infection Flynn-Aird syndrome FMAIG FMF FMNG FMPP FNMTC Foamy myocardial transformation of infancy FOAR syndrome Focal acral hyperkeratosis Focal cemento-osseous dysplasia Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

ORPHA number

Disease name

Focal epilepsy-intellectual 352587 disability-dysarthria-ataxia

syndrome 398166 Focal facial dermal dysplasia 79133 398173 1807 398189 79133 79133 398173 1807 398189 398189 221083 48918 48918 2200 2200 370002 443804 443804 79093 2048 79097 113 79459 300552 86902 69745 525 545 300552 243 79100 178512 228371 3454 337

Focal facial dermal dysplasia 1, Brauer type Focal facial dermal dysplasia 2, Brauer-Setleis type Focal facial dermal dysplasia 3, Setleis type Focal facial dermal dysplasia 4 Focal facial dermal dysplasia type 1 Focal facial dermal dysplasia type I Focal facial dermal dysplasia type II Focal facial dermal dysplasia type III Focal facial dermal dysplasia type IV Focal facial preauricular dysplasia Focal myoclonus of face Focal myositis Focal nodular myositis Focal palmoplantar and gingival hyperkeratosis Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma with joint keratoses Focal stiff limb syndrome Focal stiff-person syndrome Foix-Alajouanine syndrome Foix-Chavany-Marie syndrome Folinic acid-responsive seizures Follicular atrophoderma and basal cell carcinomas Follicular atrophoderma-basal cell carcinoma Follicular cholangitis and pancreatitis Follicular dendritic cell sarcoma Follicular dyskeratoma Follicular lichen planus Follicular lymphoma Follicular pancreatocholangitis Follicular stimulating hormoneresistant ovaries Folliculitis ulerythematosa reticulate Folliculotropic mycosis fungoides Foodborne botulism Foot contractures-muscle atrophyoculomotor apraxia syndrome FOP



70

ORPHA Disease name number 60015 Foramina parietalia permagna 366 Forbes disease 141071 51208 51208 3238 3238 178333 178333 85162 3219 141037 141037 141037 397618

2253 221126 2795 169095 1799 275777 71290 280628 353220 79084 2348 79083 280356 435651 435660 71290 313808 69126 908 93256 284247 861 2523 137834 100026 2108 79149 98970 2052

Foregut duplication cyst of the tongue Formiminoglutamic aciduria Formiminotransferase cyclodeaminase deficiency Forney syndrome Forney-Robinson-Pascoe syndrome Forsius-Eriksson syndrome Forsius-Eriksson type ocular albinism FOSMN syndrome Fountain syndrome Fourth branchial cleft anomaly Fourth branchial cleft cyst Fourth branchial cleft fistula Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Foveal hypoplasia-presenile cataract syndrome Fowler syndrome Fowler-Christmas-Chapple syndrome FOXN1 deficiency FOXP2-associated dysphasia FPAH FPD/AML syndrome FPHH FPLCA FPLD1 FPLD2 FPLD3 FPLD4 FPLD5 FPLD6 FPS/AML syndrome FPSG FRA Fragile X syndrome Fragile X-associated tremor/ataxia syndrome FRAM Franceschetti-Klein syndrome Franek-Bocker-Kahlen syndrome Frank-Ter Haar syndrome Franklin disease François dyscephalic syndrome François syndrome François-Neetens speckled corneal dystrophy Fraser syndrome

ORPHA Disease name number →2052 Fraser-like syndrome 347 Frasier syndrome 908

FraX syndrome

908 FRAXA syndrome 100973 FRAXE intellectual disability 100974 FRAXF syndrome

ORPHA Disease name number 1104 Fryns microphthalmia syndrome 2059 Fryns syndrome →2995 Fryns-Aftimos syndrome 2497 2058 1305

95

391641

834

391646 269

FRDA Free sialic acid storage disease Free sialic acid storage disease, 309324 infantile form 2053 Freeman-Sheldon syndrome Freeman-Sheldon syndrome 1147 variant Freire Maia-Pinheiro-Opitz 2673 syndrome 2723 Freire-Maia syndrome →264200 Frias syndrome 85335 Fried syndrome 2487 Fried-Goldberg-Mundel syndrome 1969 Friedman-Goodman syndrome 95 Friedreich ataxia 96 Friedreich-like ataxia 99672 Fried's tooth and nail syndrome 1931 Frontal encephalocele 254492 Frontal fibrosing alopecia 1791 Frontofacionasal dysplasia 1826 Frontometaphyseal dysplasia Frontonasal arteriovenous 141168 malformation 391474 Frontonasal dysplasia type 1 228390 Frontonasal dysplasia type 2 306542 Frontonasal dysplasia type 3 Frontonasal dysplasia with 228390 alopecia and genital abnomality Frontonasal dysplasia with 228390 alopecia and genital anomaly Frontonasal dysplasia-severe 306542 microphthalmia-severe facial clefting syndrome 391474 Frontorhiny Frontotemporal dementia with 275872 amyotrophic lateral sclerosis Frontotemporal dementia with 275872 motor neuron disease Frontotemporal dementia, right 293848 temporal atrophy variant 2141 Froster-Huch syndrome Froster-Iskenius-Waterson-Hall 2215 syndrome 2056 Fructokinase deficiency Fructose-1,6-bisphosphatase 348 deficiency Frydman-Cohen-Karmon 2057 syndrome 2429 Fryns macrocephaly

243 269 51208 275872 275872 247790 247790 98974 263479 349 2854 2854 →85199 551 272 90062 35063 24 24 882 882 622 308380 2169 2170 91348 91348 227796 827 99004 207000 →60030 2579 591

Fryns-Hofkens-Fabry syndrome Fryns-Smeets-Thiry syndrome FS FS1 FS2 FSH dystrophy FSH-RO FSHD FTCD deficiency FTD-ALS FTD-MND FTH1-associated iron overload FTH1-related iron overload Fuchs endothelial corneal dystrophy Fuchs heterochromic iridocyclitis Fucosidosis Fuhrmann syndrome Fuhrmann-Rieger-de Sousa syndrome Fukuda-Miyanomae-Nakata syndrome Fukuhara syndrome Fukuyama congenital muscular dystrophy Fulminant hepatic failure Fulminant viral hepatitis Fumarase deficiency Fumaric aciduria Fumarylacetoacetase deficiency Fumarylacetoacetate hydrolase deficiency Functional methionine synthase deficiency Functional methionine synthase deficiency type cblDv1 Functional methionine synthase deficiency type cblE Functional methionine synthase deficiency type cblG Functioning gonadotropic adenoma Functioning pituitary gonadotropic adenoma Fundus albipunctatus Fundus flavimaculatus Fundus pulverulentus Fungal myositis Furlong syndrome Furukawa-Takagi-Nakao syndrome Furuncular myiasis



71

ORPHA Disease name number 591 Furunculoid myiasis 591 Furunculous myiasis 228119 Fusariosis 228119 Fusarium infection 2287 Fused mandibular incisors 2498 35909 908 93256 364 79258 79259 79259 79259 25 2066 79402 90041 487 79237 79237 309297 79238 79239 79239 79237 79238 351 487 75496 487 79238 79238 79237 79237 100086 2065 2065 309297 79239 2325 3035 2066 212 33573 33574

Fusion of metacarpals 4 and 5 FV and FVIII combined deficiency FXS FXTAS syndrome G6P deficiency G6P deficiency type 1a G6P deficiency type Ib G6P translocase deficiency G6PT deficiency GA1 GABA transaminase deficiency GABEB Gaisböck syndrome Galactocerebrosidase deficiency Galactokinase deficiency Galactokinase deficiency galactosemia Galactosamine-6-sulfatase deficiency Galactose epimerase deficiency Galactose-1-phosphate uridyltransferase deficiency Galactosemia type 1 Galactosemia type 2 Galactosemia type 3 Galactosialidosis Galactosylceramidase deficiency Galactosyltransferase I deficiency GALC deficiency GALE deficiency GALE-D GALK deficiency GALK-D Gallbladder neuroendocrine tumor Galloway syndrome Galloway-Mowat syndrome GALNS deficiency GALT deficiency Gamborg-Nielsen syndrome Game-Friedman-Paradice syndrome Gamma-aminobutyric acid transaminase deficiency Gamma-cystathionase deficiency Gamma-glutamyl transpeptidase deficiency Gamma-glutamylcysteine synthetase deficiency

ORPHA Disease name number 100026 Gamma-HCD 100026 Gamma-heavy chain disease 22 353 682 682 382 643 251937 251949 251877 251992 2067 314022 3469 79665 324636 2075 99000 314022 423781 141071 332 36273 100075 418959 913 2069 2930

2930 44890 44890 2368 355 77259 77260 77261 2072 77261

2072 2072 308712

Gamma-hydroxybutyric aciduria Gamma-sarcoglycanopathy Gamstorp disease Gamstorp episodic adynamy GAMT deficiency GAN Gangliocytoma Ganglioglioma Ganglioneuroblastoma Ganglioneuroma GAPO syndrome GAPPS Garcia-Lurie syndrome Gardner syndrome Gardner-Diamond syndrome Gardner-Silengo-Wachtel syndrome Gass disease Gastric adenocarcinoma and proximal polyposis of the stomach Gastric carcinoma, salivary gland type Gastric duplication cyst of the tongue Gastric intrinsic factor deficiency Gastric linitis plastica Gastric neuroendocrine tumor Gastric squamous cell carcinoma Gastrinoma Gastrocutaneous syndrome Gastrointestinal polyposisectodermal changes syndrome Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome Gastrointestinal stromal sarcoma Gastrointestinal stromal tumor Gastroschisis Gaucher disease Gaucher disease type 1 Gaucher disease type 2 Gaucher disease type 3 Gaucher disease type 3C Gaucher disease, subacute neuronopathic type Gaucher disease-ophthalmoplegiacardiovascular calcification syndrome Gaucher-like disease GBE deficiency, adult neuromuscular form

ORPHA number

Disease name

GBE deficiency, childhood 308684 combined hepatic and myopathic 308698 308670 308655 308638 308621 360 98916 329984 98962 98963 25 98962 98963 438274 528 228429 2095 380 363976 98957 53697 366 324636 36387 411777 26790 98957 2623 2623 2073 85448 2074 251604 2084 51608 79402 168632 98806 528

form GBE deficiency, childhood neuromuscular form GBE deficiency, congenital neuromuscular form GBE deficiency, fatal perinatal neuromuscular form GBE deficiency, non progressive hepatic form GBE deficiency, progressive hepatic form GBM GBS, acute inflammatory demyelinating polyradiculoneuropathic form GCC GCD1 GCD2 GCDHD GCDI GCDII GCGR-related hyperglucagonemia GCL GCL4 GCM syndrome GCPS GCT of bone GDCD GDD GDE deficiency GDS GEFS+ GEKA Gelatinous ascites Gelatinous drop-like corneal dystrophy Geleophysic dwarfism Geleophysic dysplasia Gélineau disease Gelsolin amyloidosis Gemignani syndrome Gemistocytic astrocytoma GEMSS syndrome Generalized arterial calcification of infancy Generalized atrophic benign epidermolysis bullosa Generalized basaloid follicular hamartoma syndrome Generalized cervical and upperlimb-onset dystonia Generalized congenital lipodystrophy



72

ORPHA number 228429 228429 263543 263548 263553 263558 231568 79399 99647 79399 36387 79137 308487 157991 157991 411777 411777 280774 36236 1041 308487 308487 308487 33355

79402

329971 167635

435628 141209 89842 167635

263543

Disease name

Generalized congenital lipodystrophy type 4 Generalized congenital lipodystrophy with myopathy Generalized deciduous skin Generalized deciduous skin type A Generalized deciduous skin type B Generalized deciduous skin type C Generalized dominant dystrophic epidermolysis bullosa Generalized EBS, non-DowlingMeara type Generalized enchondromatosis with platyspondyly Generalized epidermolysis bullosa simplex, non-Dowling-Meara type Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized epimerase deficiency galactosemia Generalized eruptive histiocytoma Generalized eruptive histiocytosis Generalized eruptive keratoacanthoma Generalized eruptive keratoacanthomas of Grzybowski Generalized essential telangiectasia Generalized exfoliative disease Generalized fetal edema Generalized galactose epimerase deficiency Generalized GALE deficiency Generalized GALE-D Generalized hematopoietic hypoplasia Generalized junctional epidermolysis bullosa, non-Herlitz type Generalized juvenile polyposis/juvenile polyposis coli Generalized lichenoid papular eruption Generalized lipodystrophyprogeroid features-severe intellectual disability syndrome Generalized lymphatic anomaly Generalized mitis RDEB Generalized papular and sclerodermoid lichen myxedematosus Generalized peeling skin syndrome

ORPHA number 263548 263553 263558 171876 263543 247353 3221 308487 308487 254704 99845 226316 2075 85201 2163 85197 93398 329813 1454 217008 98961 35686 79137 2808 213837 213751 2077 91352 2078 496693 1117 221117 356 99926 63275 280774 84090 314769 633

Disease name

Generalized peeling skin syndrome type A Generalized peeling skin syndrome type B Generalized peeling skin syndrome type C Generalized pseudohypoaldosteronism type 1 Generalized PSS Generalized pustular psoriasis Generalized resistance to thyroid hormone Generalized UDP-galactose-4epimerase deficiency Generalized uridine diphosphate galactose-4-epimerase deficiency Genetic hyperferritinemia without iron overload Genetic recurrent myoglobinuria Genetic transient congenital hypothyroidism Genitopalatocardiac syndrome Genitopatellar syndrome Genoa syndrome Genochondromatosis type 1 Genochondromatosis type 2 Genome-wide paternal uniparental disomy mosaicism Gentile syndrome Genuine diffuse phlebectasia Geographic corneal dystrophy Geographic helicoid peripapillary choroidopathy GEPD Gerhardt syndrome Germ cell cancer of the cervix uteri Germ cell cancer of the corpus uteri German syndrome Germinoma of the central nervous system Geroderma osteodysplastica Gershoni-Baruch syndrome Gershoni-Baruch-Leibo syndrome Gerstmann syndrome Gerstmann-Straussler-Scheinker syndrome Gestational choriocarcinoma Gestational pemphigoid GET GFND GH and PRL cosecreting pituitary adenoma GH receptor deficiency

ORPHA number 1802 1802 83450 314811 180267 643 397 1190 251579 139436 363976 626 2494 626 274 1065 2025

3473

2026 2027 2709 44890 97286 358 3268 141209 849 666 →53271 213833

238763

2084 2085 354 360 360 269197 251582 251576 404476

Disease name

Ghosal hematodiaphyseal dysplasia Ghosal syndrome Ghost teeth Ghrelin receptor deficiency Giant adenofibroma of the breast Giant axonal neuropathy Giant cell arteritis Giant cell chondrodysplasia Giant cell glioblastoma Giant cell histiocytomatosis Giant cell tumor of bone Giant congenital melanocytic nevus Giant hypertrophic gastritis Giant pigmented hairy nevus Giant platelet syndrome Gillespie syndrome Gingival fibromatosis-facial dysmorphism syndrome Gingival fibromatosishepatosplenomegaly-other anomalies syndrome Gingival fibromatosishypertrichosis syndrome Gingival fibromatosis-progressive deafness syndrome Gingival hypertrophy-corneal dystrophy GIST GIST-paraganglioma dyad Gitelman syndrome Giuffré-Tsukahara syndrome GLA Glanzmann thrombasthenia Glass bone disease Glass-Chapman-Hockley syndrome Glassy cell carcinoma of the cervix uteri Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma-ectopiamicrospherophakia-stiff jointsshort stature syndrome Glaucoma-sleep apnea syndrome GLB1 deficiency Glioblastoma Glioblastoma multiforme Glioependymal/ependymal cyst Gliomatosis cerebri Gliosarcoma Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome



73

ORPHA number

488613

73223

480898

2791 487 83454 →69735 84090 391651 83454 2616 141163 221098 221098 404476 255132 97280 97280 355 786 403 403 79272 71277 35710 79330 79320 79325 71277 71277 51208 2195 33574 25 26791 35706 25

Disease name

Global developmental delayneuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Global developmental delayosteopenia-ectodermal defect syndrome Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Globodontia Globoid cell leukodystrophy Glomangiomatosis Glomerulonephritis-sparse hairtelangiectasis syndrome Glomerulopathy with fibronectin deposits Glomus tumor Glomuvenous malformation Gloomy face syndrome Glossopalatine ankylosis Glossopharyngeal neuralgia Glossovasopharyngeal neuralgia GLOW syndrome GLRX5-related sideroblastic anemia Glucagonoma Glucagonoma syndrome Glucocerebrosidase deficiency Glucocorticoid resistance Glucocorticoid-remediable aldosteronism Glucocorticoid-sensitive hypertension Glucosamine N-acetyl-6-sulfatase deficiency Glucose transporter type 1 deficiency Glucose-galactose malabsorption Glucosidase 1 deficiency Glucosyltransferase 1 deficiency Glucosyltransferase 2 deficiency Glut1-DS Glut-1 deficiency syndrome Glutamate formiminotransferase deficiency Glutamate-aspartate transport defect Glutamate-cysteine ligase deficiency Glutaric acidemia type 1 Glutaric acidemia type 2 Glutaric acidemia type 3 Glutaric aciduria type 1

ORPHA Disease name number 26791 Glutaric aciduria type 2 394532 Glutaric aciduria type 2, mild type 394529 35706 25 35706 25 32 289846 289849 33573 284414 284408 284411 261476 255182 407 289891 365

308552

420429 57 364 79258 79259 364

79258

79259

2088

Glutaric aciduria type 2, severe neonatal type Glutaric aciduria type 3 Glutaryl-CoA dehydrogenase deficiency Glutaryl-CoA oxidase deficiency Glutaryl-coenzyme A dehydrogenase deficiency Glutathione synthetase deficiency Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria Glutathionuria Glycerol kinase deficiency, adult form Glycerol kinase deficiency, infantile form Glycerol kinase deficiency, juvenile form Glycerol kinase deficiencycontiguous gene syndrome Glycine cleavage system L protein deficiency Glycine encephalopathy Glycine N-methyltransferase deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to G6P deficiency Glycogen storage disease due to G6P deficiency type Ia Glycogen storage disease due to G6P deficiency type Ib Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to GLUT2 deficiency

ORPHA number 367

308712

308684

308698

308670

308655

308638

308621

366

2089

2364

284435

284426

34587

79240

369

2089

Disease name

Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease due to lactate dehydrogenase deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to liver glycogen synthase deficiency



74

ORPHA number

Disease name

Glycogen storage disease due to 264580 liver phosphorylase kinase

deficiency Glycogen storage disease due to 137625 muscle and heart glycogen synthase deficiency Glycogen storage disease due to 99849 muscle beta-enolase deficiency Glycogen storage disease due to 368 muscle glycogen phosphorylase deficiency Glycogen storage disease due to 371 muscle phosphofructokinase deficiency Glycogen storage disease due to 715 muscle phosphorylase kinase deficiency Glycogen storage disease due to →319646 phosphoglucomutase deficiency Glycogen storage disease due to 713 phosphoglycerate kinase 1 deficiency Glycogen storage disease due to 97234 phosphoglycerate mutase deficiency 2089 Glycogen storage disease type 0a 137625 Glycogen storage disease type 0b 364 Glycogen storage disease type 1 79258 Glycogen storage disease type 1a 79259 Glycogen storage disease type 1b →79259 Glycogen storage disease type 1C →79259 Glycogen storage disease type 1D 365 Glycogen storage disease type 2 Glycogen storage disease type 2, 308552 infantile onset Glycogen storage disease type 2, 420429 late onset 366 Glycogen storage disease type 3 367 Glycogen storage disease type 4 Glycogen storage disease type 4, 308712 adult neuromuscular form Glycogen storage disease type 4, 308684 childhood combined hepatic and myopathic form Glycogen storage disease type 4, 308698 childhood neuromuscular form Glycogen storage disease type 4, 308670 congenital neuromuscular form Glycogen storage disease type 4, 308655 fatal perinatal neuromuscular form Glycogen storage disease type 4, 308638 non progressive hepatic form Glycogen storage disease type 4, 308621 progressive hepatic form 368 Glycogen storage disease type 5 369 Glycogen storage disease type 6

ORPHA Disease name number 371 Glycogen storage disease type 7 264580 Glycogen storage disease type 9A 79240 Glycogen storage disease type 9B 264580 Glycogen storage disease type 9C 715 Glycogen storage disease type 9D 715 Glycogen storage disease type 9E 2088

Glycogen storage disease type 11

284426 Glycogen storage disease type 11 57 Glycogen storage disease type 12 →319646 Glycogen storage disease type 14 263297 Glycogen storage disease type 15 364 Glycogen storage disease type I 79259 Glycogen storage disease type Ib

ORPHA number 57 79258 79259 79258

79259

2088 367

365

Glycogen storage disease type II Glycogen storage disease type II, 308552 infantile onset Glycogen storage disease type II, 420429 late onset 366 Glycogen storage disease type III 367 Glycogen storage disease type IV Glycogen storage disease type IV, 308712 adult neuromuscular form Glycogen storage disease type IV, 308684 childhood combined hepatic and myopathic form Glycogen storage disease type IV, 308698 childhood neuromuscular form Glycogen storage disease type IV, 308670 congenital neuromuscular form Glycogen storage disease type IV, 308655 fatal perinatal neuromuscular form Glycogen storage disease type IV, 308638 non progressive hepatic form Glycogen storage disease type IV, 308621 progressive hepatic form 264580 Glycogen storage disease type IXa 79240 Glycogen storage disease type IXb 264580 Glycogen storage disease type IXc 715 Glycogen storage disease type IXd 715 Glycogen storage disease type IXe 368 Glycogen storage disease type V 369 Glycogen storage disease type VI 371 Glycogen storage disease type VII 2088 Glycogen storage disease type XI 57 Glycogen storage disease type XII →319646 Glycogen storage disease type XIV 263297 Glycogen storage disease type XV Glycogen storage disease with 263297 severe cardiomyopathy due to glycogenin deficiency Glycogenosis due to acid maltase 365 deficiency Glycogenosis due to acid maltase 308552 deficiency, infantile onset

308712

308684

308698

308670

308655

308638

308621

366 2364

284435

284426

34587

79240

369 264580

Disease name

Glycogenosis due to aldolase A deficiency Glycogenosis due to glucose-6phosphatase deficiency type 1a Glycogenosis due to glucose-6phosphatase deficiency type 1b Glycogenosis due to glucose-6phosphatase deficiency type Ia Glycogenosis due to glucose-6phosphatase transport defect type Ib Glycogenosis due to GLUT2 deficiency Glycogenosis due to glycogen branching enzyme deficiency Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form Glycogenosis due to glycogen debranching enzyme deficiency Glycogenosis due to lactate dehydrogenase deficiency Glycogenosis due to lactate dehydrogenase H-subunit deficiency Glycogenosis due to lactate dehydrogenase M-subunit deficiency Glycogenosis due to LAMP-2 deficiency Glycogenosis due to liver and muscle phosphorylase kinase deficiency Glycogenosis due to liver glycogen phosphorylase deficiency Glycogenosis due to liver phosphorylase kinase deficiency



75

ORPHA number

Disease name

Glycogenosis due to muscle and heart glycogen synthase deficiency Glycogenosis due to muscle beta99849 enolase deficiency Glycogenosis due to muscle 368 glycogen phosphorylase deficiency Glycogenosis due to muscle 371 phosphofructokinase deficiency Glycogenosis due to muscle 715 phosphorylase kinase deficiency Glycogenosis due to →319646 phosphoglucomutase deficiency Glycogenosis due to 713 phosphoglycerate kinase 1 deficiency Glycogenosis due to 97234 phosphoglycerate mutase deficiency 2089 Glycogenosis type 0a 137625 Glycogenosis type 0b 364 Glycogenosis type 1 79259 Glycogenosis type 1b 365 Glycogenosis type 2 Glycogenosis type 2, infantile 308552 onset 420429 Glycogenosis type 2, late onset 366 Glycogenosis type 3 367 Glycogenosis type 4 Glycogenosis type 4, adult 308712 neuromuscular form Glycogenosis type 4, childhood 308684 combined hepatic and myopathic form Glycogenosis type 4, childhood 308698 neuromuscular form Glycogenosis type 4, congenital 308670 neuromuscular form Glycogenosis type 4, fatal 308655 perinatal neuromuscular form Glycogenosis type 4, non 308638 progressive hepatic form Glycogenosis type 4, progressive 308621 hepatic form 368 Glycogenosis type 5 369 Glycogenosis type 6 371 Glycogenosis type 7 264580 Glycogenosis type 9A 79240 Glycogenosis type 9B 264580 Glycogenosis type 9C 715 Glycogenosis type 9D 715 Glycogenosis type 9E 284426 Glycogenosis type 11 57 Glycogenosis type 12 99849 Glycogenosis type 13 →319646 Glycogenosis type 14 137625

ORPHA Disease name number 263297 Glycogenosis type 15 364 Glycogenosis type I 79258 Glycogenosis type Ia 79259 365

Glycogenosis type Ib Glycogenosis type II Glycogenosis type II, infantile 308552 onset 420429 Glycogenosis type II, late onset 366 Glycogenosis type III 367 Glycogenosis type IV Glycogenosis type IV, adult 308712 neuromuscular form Glycogenosis type IV, childhood 308684 combined hepatic and myopathic form Glycogenosis type IV, childhood 308698 neuromuscular form Glycogenosis type IV, congenital 308670 neuromuscular form Glycogenosis type IV, fatal 308655 perinatal neuromuscular form Glycogenosis type IV, non 308638 progressive hepatic form Glycogenosis type IV, progressive 308621 hepatic form 264580 Glycogenosis type IXa 79240 Glycogenosis type IXb 264580 Glycogenosis type IXc 715 Glycogenosis type IXd 715 Glycogenosis type IXe 368 Glycogenosis type V 369 Glycogenosis type VI 371 Glycogenosis type VII 57 Glycogenosis type XII →319646 Glycogenosis type XIV 263297 Glycogenosis type XV Glycogenosis with severe 263297 cardiomyopathy due to glycogenin deficiency 93598 Glycolic aciduria 354 GM1 gangliosidosis 79255 GM1 gangliosidosis type 1 79256 GM1 gangliosidosis type 2 79257 GM1 gangliosidosis type 3 796 GM2 gangliosidosis 0 variant 309246 GM2 gangliosidosis, AB variant GM2 gangliosidosis, B variant, 309192 adult form GM2 gangliosidosis, B variant, 309178 infantile form GM2 gangliosidosis, B variant, 309185 juvenile form 845 GM2 gangliosidosis, B, B1 variant 309239 GM2 gangliosidosis, B1 variant 101006 GM2 synthase deficiency

ORPHA Disease name number 626 GMN 2090 GMS syndrome 53697 Gnathodiaphyseal dysplasia 602 GNE myopathy 100075 GNET 79272

GNS deficiency

329984 Goblet cell adenocarcinoid 329984 Goblet cell carcinoid 329984 Goblet cell carcinoma 329984 Goblet cell tumor 705 Goiter-deafness syndrome 373 Golabi-Rosen syndrome 351 66629 166272 166272 3026 2261 374 53540 3032 1791 1986 2092 2092 1532 206484 432 759 562 2090 1482 3034 169105 1321 65798 375 75389 757 376 1173 73 73 73 377 2095 377 66629

Goldberg syndrome Goldberg-Shprintzen megacolon syndrome Goldblatt chondrodysplasia Goldblatt syndrome Goldblatt-Viljoen syndrome Goldblatt-Wallis syndrome Goldenhar syndrome Goldmann-Favre syndrome Goldston syndrome Gollop syndrome Gollop-Wolfgang complex Goltz syndrome Goltz-Gorlin syndrome Gómez-López-Hernández syndrome Gonadoblastoma Gonadotropic deficiency Gonadotropin-dependant precocious puberty Gonadotropin-independent female-limited sexual precocity Goniodysgenesis-intellectual disability-short stature syndrome Gonococcal conjunctivitis Gonzales-del Angel syndrome Good syndrome Goodman camptodactyly Goodman syndrome Goodpasture syndrome Goossens-Devriendt syndrome Gordon hyperkalemiahypertension syndrome Gordon syndrome Gordon-Holmes syndrome Gorham disease Gorham syndrome Gorham-Stout disease Gorlin syndrome Gorlin-Chaudhry-Moss syndrome Gorlin-Goltz syndrome GOSHS



76

ORPHA number

Disease name

GOSR2-related progressive myoclonus ataxia 2500 Gottron syndrome 59135 Gowers disease 900 GPA 280586 gPAPP deficiency 247353 GPP 721 GPS 313808 GPSC 403 GRA 2763 Gracile bone dysplasia 53693 GRACILE syndrome 39812 Graft versus host disease 505 Graham Little syndrome Graham Little-Piccardi-Lassueur 505 syndrome 2111 Graham-Boyle-Troxell syndrome 52055 Graham-Cox syndrome →247691 Grand-Kaine-Fulling syndrome Grange occlusive arterial 79094 syndrome 79094 Grange syndrome 2097 Grant syndrome 98962 Granular corneal dystrophy type 1 98963 Granular corneal dystrophy type 2 98961 Granular corneal dystrophy type 3 98962 Granular corneal dystrophy type I 98963 Granular corneal dystrophy type II Granular corneal dystrophy type 98961 III 98963 Granular-lattice corneal dystrophy 86850 Granulocytic sarcoma 900 Granulomatosis with polyangiitis 183 Granulomatous allergic angiitis 64722 Granulomatous mastitis 33111 Granulomatous slack skin 99915 Granulosa cell cancer 99915 Granulosa cell malignant tumor 35858 Gräsbeck-Imerslund disease 69665 Gravidic intrahepatic cholestasis 721 Gray platelet syndrome Grayson-Wilbrandt corneal 293375 dystrophy 276405 Green jaundice 99826 Green monkey disease 1426 Greenberg dysplasia Greig cephalopolysyndactyly 380 syndrome 495 Greither disease 97261 GRF tumor 97261 GRFoma 139474 Grisart-Destrée syndrome 381 Griscelli disease 79476 Griscelli disease type 1 280620

ORPHA Disease name number 79477 Griscelli disease type 2 79478 Griscelli disease type 3 381 Griscelli-Pruniéras syndrome

Griscelli-Pruniéras syndrome type 1 Griscelli-Pruniéras syndrome type 79477 2 Griscelli-Pruniéras syndrome type 79478 3 3217 Groll-Hirschowitz syndrome Gronblad-Strandberg-Touraine 758 syndrome 314613 Growing teratoma syndrome Growth and developmental delay391348 hypotonia-vision impairment-lactic acidosis syndrome Growth deficiency-brachydactyly→264200 dysmorphism syndrome Growth delay due to insulin-like 73273 growth factor I resistance Growth delay due to insulin-like 73272 growth factor type 1 deficiency Growth delay-alopecia2067 pseudoanodontia-optic atrophy syndrome Growth delay-aminoaciduria53693 cholestasis-iron overload-lactic acidosis-early death syndrome Growth delay-deafness73272 intellectual disability syndrome Growth delay-hydrocephaly-lung 3035 hypoplasia syndrome Growth hormone and prolactin 314769 cosecreting pituitary adenoma Growth hormone receptor 633 deficiency Growth hormone releasing factor 97261 tumor Growth restriction-aminoaciduria53693 cholestasis-iron overload-lactic acidosis-early death syndrome Growth retardation-mild 391366 developmental delay-chronic hepatitis syndrome Grubben-de Cock-Borghgraef 2101 syndrome 411777 Grzybowski syndrome GSD due to acid maltase 365 deficiency GSD due to acid maltase 308552 deficiency, infantile onset GSD due to acid maltase 420429 deficiency, late onset 57 GSD due to aldolase A deficiency 364 GSD due to G6P deficiency 79258 GSD due to G6P deficiency type 1a 79476

ORPHA Disease name number 79258 GSD due to G6P deficiency type Ia 79259 GSD due to G6P deficiency type Ib 79259 GSD due to G6PT deficiency 2088 367

308712

308684

308698

308670

308655

308638

308621

366 2089 2364 284435 284426 34587 79240 369 264580 137625 99849 368 371 715

GSD due to GLUT2 deficiency GSD due to glycogen branching enzyme deficiency GSD due to glycogen branching enzyme deficiency, adult neuromuscular form GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form GSD due to glycogen branching enzyme deficiency, non progressive hepatic form GSD due to glycogen branching enzyme deficiency, progressive hepatic form GSD due to glycogen debranching enzyme deficiency GSD due to hepatic glycogen synthase deficiency GSD due to lactate dehydrogenase deficiency GSD due to lactate dehydrogenase H-subunit deficiency GSD due to lactate dehydrogenase M-subunit deficiency GSD due to LAMP-2 deficiency GSD due to liver and muscle phosphorylase kinase deficiency GSD due to liver glycogen phosphorylase deficiency GSD due to liver phosphorylase kinase deficiency GSD due to muscle and heart glycogen synthase deficiency GSD due to muscle beta-enolase deficiency GSD due to muscle glycogen phosphorylase deficiency GSD due to muscle phosphofructokinase deficiency GSD due to muscle phosphorylase kinase deficiency



77

ORPHA number

Disease name

GSD due to phosphoglucomutase deficiency GSD due to phosphoglycerate 713 kinase 1 deficiency GSD due to phosphoglycerate 97234 mutase deficiency 2089 GSD type 0a 137625 GSD type 0b 364 GSD type 1 79259 GSD type 1 non a 79258 GSD type 1a 79259 GSD type 1b 365 GSD type 2 308552 GSD type 2, infantile onset 420429 GSD type 2, late onset 366 GSD type 3 367 GSD type 4 GSD type 4, adult neuromuscular 308712 form GSD type 4, childhood combined 308684 hepatic and myopathic form GSD type 4, childhood 308698 neuromuscular form GSD type 4, congenital 308670 neuromuscular form GSD type 4, fatal perinatal 308655 neuromuscular form GSD type 4, non progressive 308638 hepatic form GSD type 4, progressive hepatic 308621 form 368 GSD type 5 369 GSD type 6 371 GSD type 7 264580 GSD type 9A 79240 GSD type 9B 264580 GSD type 9C 715 GSD type 9D 715 GSD type 9E 97234 GSD type 10 2088 GSD type 11 284426 GSD type 11 57 GSD type 12 →319646 GSD type 14 263297 GSD type 15 364 GSD type I 79259 GSD type Ib 365 GSD type II 308552 GSD type II, infantile onset 420429 GSD type II, late onset 367 GSD type IV 264580 GSD type IXa 79240 GSD type IXb 264580 GSD type IXc →319646

ORPHA Disease name number 715 GSD type IXd 715 GSD type IXe 368 GSD type V 369 371

GSD type VI GSD type VII 2088 GSD type XI 57 GSD type XII 263297 GSD type XV GSD with severe cardiomyopathy 263297 due to glycogenin deficiency 79258 GSDIa 79259 GSDIb 366 GSDIII 308712 GSDIV, adult neuromuscular form GSDIV, childhood combined 308684 hepatic and myopathic form GSDIV, childhood neuromuscular 308698 form GSDIV, congenital neuromuscular 308670 form GSDIV, fatal perinatal 308655 neuromuscular form GSDIV, non progressive hepatic 308638 form 308621 GSDIV, progressive hepatic form 99849 GSDXIII →319646 GSDXIV 2102 GTP cyclohydrolase I deficiency GTPCH1-deficient dopa-responsive 98808 dystonia 98808 GTPCH1-deficient DRD 2102 GTPCH deficiency 90020 Guam disease 319234 Guanarito hemorrhagic fever Guanidinoacetate 382 methyltransferase deficiency 2785 Guibaud-Vainsel syndrome Guillain-Barré syndrome, acute 98916 inflammatory demyelinating polyradiculoneuropathic form 231 Guinea worm disease Guízar Vázquez-Luengas-Muñoz 1661 syndrome Guízar Vázquez-Sánchez-Manzano 2104 syndrome 1562 Gunal-Seber-Basaran syndrome 79277 Günther disease Gurrieri-Sammito-Bellussi 1858 syndrome Guttate hypopigmentation and 324561 punctate palmoplantar keratoderma 2957 Guttmacher syndrome 39812 GVH 293375 GWCD

ORPHA Disease name number 99914 Gynandroblastoma 414 168569 139441 2396 99803 217026 91378 100051 100054 100050 100051 100054 966 79263 2841 2342 1408 69084 300878 2220 3387 955 2157 2985 2521 1809 185 138 2107 2108 2109 2109 157850 2110 3453 289326 314555 2926 1217 2869 93946 79126 73229 1927 2438 2438

Gyrate atrophy of choroid and retina H syndrome H-ABC Haberland syndrome Haddad syndrome Hadziselimovic syndrome HAE HAE 2 HAE 3 HAE-I HAE-II HAE-III HAFF Hagberg-Santavuori disease Hailey-Hailey disease Haim-Munk syndrome Hair defect-photosensitivityintellectual disability syndrome Hair-nail ectodermal dysplasia Hairy cell leukemia variant Hairy elbows syndrome Hairy throat syndrome Hajdu-Cheney syndrome HAL deficiency Hal-Berg-Rudolph syndrome Halal syndrome Halal-Setton-Wang syndrome Halasz syndrome Hall-Hittner syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallermann-Streiff-François syndrome, severe form Hallermann-Streiff-like syndrome Hallervorden-Spatz syndrome Hallux varus-preaxial polysyndactyly syndrome HAM syndrome HAM/TSP Hamamy syndrome Hamanishi-Ueba-Tsuji syndrome Hamano-Tsukamoto syndrome Hamartomatous intestinal polyposis Hamel cerebro-palato-cardiac syndrome Hamman-Rich syndrome HANAC syndrome Hand and foot deformity-flat facies syndrome Hand-foot-genital syndrome Hand-foot-uterus syndrome



78

ORPHA Disease name number 99873 Hand-Schüller-Christian disease 989 Hanhart syndrome 186

Hanot syndrome Hantavirosis Hantavirus fever 319247 Hantavirus pulmonary syndrome 3294 Hapnes-Boman-Skeie syndrome 2967 Haptocorrin deficiency 1490 Harboyan syndrome 899 HARD syndrome 2812 Hard-skin syndrome, Parana type 85182 Hardcastle syndrome 1415 Hardikar syndrome 1177 Harding ataxia 496790 Harel-Yoon syndrome 457 Harlequin ichthyosis 199282 Harlequin syndrome →216866 HARP syndrome 2115 Harrod syndrome 2116 Hartnup disease 2116 Hartnup disorder 2117 Hartsfield syndrome 84085 HAS 83601 Hashimoto encephalitis 99872 Hashimoto-Pritzker syndrome Haspeslagh-Fryns-Muelenaere 2994 syndrome 3325 HAT 2118 Hawkinsinuria 1071 Hay-Wells syndrome 163596 Hb Bart's hydrops fetalis 231242 HbC-beta-thalassemia syndrome 231249 HbE-beta-thalassemia syndrome 93616 HbH disease 352657 HBID HbLepore-beta-thalassemia 330032 syndrome 251359 HbS-beta-thalassemia syndrome 251365 HbSC disease 251370 HbSD disease 251375 HbSE disease 363412 HBSL 88673 HCC 86864 HCD 93556 HCDD 85458 HCHWA 324723 HCHWA, Arctic type 100006 HCHWA, Dutch type 324718 HCHWA, Flemish type 100008 HCHWA, Icelandic type 324708 HCHWA, Iowa type 324713 HCHWA, Italian type 324703 HCHWA, Piedmont type 100006 HCHWA-D 340 340

ORPHA number 58017 HCL-C 300878 HCL-v

Disease name

163690 HCS 306741 HD-HA syndrome 26106 HDGC

ORPHA number 2330 90053 2128

157941 HDL1 98934 HDL2

86908

157946 HDL3 98759 HDL4

443070

313808 HDLS 2237 HDR syndrome 402823 HDV 288 67037

254898

3225

1338 1354 875 392 1350 1342 168796 1342 1342 442582 93556 86864 2119 3377 3377 2492 238468 98813 1882 2787 3220 99932 178330 86813 168782 244242 1426 252054

HE Head and neck squamous cell carcinoma Hearing lossencephaloneuropathy-obesityvalvulopathy syndrome Hearing loss-familial salivary gland insensitivity to aldosterone syndrome Heart defect-tongue hamartomapolysyndactyly syndrome Heart defects-limb shortening syndrome Heart tumor of child Heart-hand syndrome type 1 Heart-hand syndrome type 2 Heart-hand syndrome type 3 Heart-hand syndrome, Slovenian type Heart-hand syndrome, Spanish type Heart-limb syndrome type 3 Heavy chain amyloidosis Heavy chain deposition disease Heavy chain disease HEC syndrome Hecht syndrome Hecht-Beals syndrome Hecht-Scott syndrome HED HED-ID HEDH syndrome Heide syndrome Heimler syndrome Heiner syndrome Heinz body anemia Helicoid peripapillary chorioretinal degeneration Heller syndrome HELLP syndrome HEM dysplasia Hemangioblastoma

2128

306741 1214 1241 141145 141136 2549 141148 276280 99802 306669 99050 139491 79230 225123 139491 447792 163596 2132 231242 90039 2133 231249 93616 330032 330041 280615 244242

244242 86817

714

Disease name

Hemangioma-thrombocytopenia syndrome Hematopoietic stem cell transplantation Hemi 3 syndrome Hemiconvulsion-hemiplegiaepilepsy syndrome Hemicorporal hypertrophy Hemicrania continua Hemidystonia-hemiatrophy syndrome Hemifacial atrophy Hemifacial hyperplasia-strabismus syndrome Hemifacial hypertrophy Hemifacial microsomia Hemifacial microsomia-radial defects syndrome Hemifacial myohyperplasia Hemihyperplasia-multiple lipomatosis syndrome Hemimegalencephaly Hemiparkinsonism-hemiatrophy syndrome Hemitruncus arteriosus Hemochromatosis due to defect in ferroportin Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Hemochromatosis type 5 Hemoglobin Bart's hydrops fetalis Hemoglobin C disease Hemoglobin C-beta-thalassemia syndrome Hemoglobin D disease Hemoglobin E disease Hemoglobin E-beta-thalassemia syndrome Hemoglobin H disease Hemoglobin Lepore-betathalassemia syndrome Hemoglobin M disease Hemoglobinopathy Toms River Hemolysis, elevated liver enzymes, low platelets in pregnancy Hemolysis-elevated liver enzymeslow platelets syndrome Hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to diphosphoglycerate mutase deficiency



79

ORPHA number

Disease name

Hemolytic anemia due to 99138 erythrocyte adenosine deaminase

712

90030

248305

35120

766 275944 90038 2134

93581

93578

93575

357008

93579

93580

93576

217023

158048 98878 98879 329 178396 340 274

overproduction Hemolytic anemia due to glucophosphate isomerase deficiency Hemolytic anemia due to glutathione reductase deficiency Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to red cell pyruvate kinase deficiency Hemolytic disease of the newborn with Kell alloimmunization Hemolytic-uremic syndrome with diarrhea Hemolytic-uremic syndrome without diarrhea Hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies Hemolytic-uremic syndrome without diarrhea with B factor anomaly Hemolytic-uremic syndrome without diarrhea with C3 anomaly Hemolytic-uremic syndrome without diarrhea with DGKE deficiency Hemolytic-uremic syndrome without diarrhea with H factor anomaly Hemolytic-uremic syndrome without diarrhea with I factor anomaly Hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly Hemophagocytic syndrome associated with an infection Hemophilia A Hemophilia B Hemophilia C Hemorrhagic disease due to alpha1-antitrypsin Pittsburgh mutation Hemorrhagic fever-renal syndrome Hemorrhagiparous thrombocytic dystrophy

ORPHA number 247245 324632 2136 2135 761 95159 79269 79271 3325 3325 3325 156 156 386 2031 369 369 100035 890 79124 90073 402823 402823 449 54272 88673 137681

137681 95159 905 64743 364 882 86882 306539 2907 447964 85450

Disease name

Hemosiderosis of the central nervous system Hendra virus infection Hennekam syndrome Hennekam-Beemer syndrome Henoch-Schönlein purpura HEP Heparan sulfamidase deficiency Heparan-alpha-glucosaminide Nacetyltransferase deficiency Heparin-associated thrombocytopenia Heparin-induced thrombocytopenia Heparin-induced thrombocytopenia type 2 Hepatic carnitine palmitoyl transferase 1 deficiency Hepatic carnitine palmitoyl transferase I deficiency Hepatic cystic hamartoma Hepatic fibrosis-renal cystsintellectual disability syndrome Hepatic glycogen phosphorylase deficiency Hepatic phosphorylase deficiency Hepatic solitary necrotic nodule Hepatic veno-occlusive disease Hepatic veno-occlusive diseaseimmunodeficiency syndrome Hepatitis B reinfection following liver transplantation Hepatitis D virus Hepatitis delta Hepatoblastoma Hepatocellular adenoma Hepatocellular carcinoma Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoencephalopathy due to COXPD1 Hepatoerythropoietic porphyria Hepatolenticular degeneration Hepatoportal sclerosis Hepatorenal glycogenosis Hepatorenal tyrosinemia Hepatosplenic T-cell lymphoma Hereditary acrokeratotic poikiloderma of Kindler-Weary Hereditary acrokeratotic poikiloderma, Weary type Hereditary adult-onset painful axonal polyneuropathy Hereditary amyloid nephropathy


93562

93561 85450 85448 228277 91378 100050 100051 100054 91378 100050 100051 100054

73229

3115 289601 1416 352657 352657 91378 221061 221061 145 227535 227535 871 36382 1416 1416 30925 30925

Disease name

Hereditary amyloid nephropathy due to apolipoprotein A-I variant Hereditary amyloid nephropathy due to apolipoprotein A-II variant Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant Hereditary amyloid nephropathy due to lysozyme variant Hereditary amyloidosis with primary renal involement Hereditary amyloidosis, Finnish type Hereditary anetoderma Hereditary angioedema Hereditary angioedema type 1 Hereditary angioedema type 2 Hereditary angioedema type 3 Hereditary angioneurotic edema Hereditary angioneurotic edema type 1 Hereditary angioneurotic edema type 2 Hereditary angioneurotic edema type 3 Hereditary angiopathynephropathy-aneurysms-muscle cramps syndrome Hereditary areflexic dystasia, Roussy-Lévy type Hereditary arterial and articular multiple calcification syndrome Hereditary articular chondrocalcinosis Hereditary benign corneal intraepithelial dyskeratosis Hereditary benign intraepithelial dyskeratosis Hereditary bradykinine-induced angioedema Hereditary brain cavernous angioma Hereditary brain cavernous hemangioma Hereditary breast and ovarian cancer syndrome Hereditary breast cancer Hereditary breast carcinoma Hereditary bundle branch defect Hereditary CAD Hereditary calcium pyrophosphate deposition Hereditary CC Hereditary CDI Hereditary central diabetes insipidus



80

ORPHA Disease name number 221061 Hereditary cerebral cavernoma 221061 85458 324723 100006 324718 100008 324708 324713 324703 48818 36382 53372 53372 676 422526 422526 293144 238578 293150 98434

98434

238722 238722 972 79273 60015 168577 398088 168577

Hereditary cerebral cavernous malformation Hereditary cerebral hemorrhage with amyloidosis Hereditary cerebral hemorrhage with amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Icelandic type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Hereditary ceruloplasmin deficiency Hereditary cervical artery dissection Hereditary chin myoclonus Hereditary chin-trembling Hereditary chronic pancreatitis Hereditary clear cell renal cell adenocarcinoma Hereditary clear cell renal cell carcinoma Hereditary clubfoot due to 5q31 microdeletion Hereditary clubfoot due to 17q23.1-q23.2 microduplication Hereditary clubfoot due to PITX1 point mutation Hereditary combined deficiency of factors II, VII, IX and X Hereditary combined deficiency of vitamin K-dependent clotting factors Hereditary congenital controlateral synkinesia Hereditary congenital mirror movements Hereditary continuous muscle fiber activity Hereditary coproporphyria Hereditary cranium bifidum Hereditary cryohydrocytosis type 2 Hereditary cryohydrocytosis with normal stomatin Hereditary cryohydrocytosis with reduced stomatin

ORPHA number

Disease name

Hereditary crystalline stromal dystrophy of Schnyder Hereditary cystatin C amyloid 100008 angiopathy Hereditary diffuse cancer of 26106 stomach Hereditary diffuse gastric 26106 adenocarcinoma 26106 Hereditary diffuse gastric cancer Hereditary diffuse 313808 leukoencephalopathy with axonal spheroids and pigmented glia Hereditary diffuse 313808 leukoencephalopathy with spheroids 288 Hereditary elliptocytosis Hereditary endotheliopathy→247691 retinopathy-nephropathy-stroke syndrome Hereditary erythroblastic 98873 multinuclearity with a positive acidified-serum test (hempas) 36899 Hereditary essential myoclonus Hereditary expansile polyostotic 85195 osteolytic dysplasia 157846 Hereditary ferritinopathy Hereditary fibrosing poikiloderma221043 tendon contractures-myopathypulmonary fibrosis syndrome 90045 Hereditary folate malabsorption 469 Hereditary fructose intolerance Hereditary fructose-1-phosphate 469 aldolase deficiency 469 Hereditary fructosemia 53372 Hereditary geniospasm 2024 Hereditary gingival fibromatosis 2024 Hereditary gingival hyperplasia Hereditary hemorrhagic 774 telangiectasia Hereditary hollow visceral 2604 myopathy Hereditary hypercarotenemia and 199285 vitamin A deficiency 238475 Hereditary hypercholanemia 3197 Hereditary hyperekplexia 3197 Hereditary hyperexplexia Hereditary hyperferritinemia with 163 congenital cataracts Hereditary hyperferritinemia163 cataract syndrome 2801 Hereditary hyperphosphatasia Hereditary hypophosphatemic 157215 rickets with hypercalciuria 55654 Hereditary hypotrichosis simplex Hereditary hypotrichosis simplex 90368 of the scalp 98967

ORPHA number 217407 602 79091 324381

178464

79091 300373 397692

332 2334 493 411602 523 523 523 79452 90186 228277 621 157794 64748 773 64751 90120 64748 90119

90103

99950 90117

Disease name

Hereditary hypotrichosis with recurrent skin vesicles Hereditary inclusion body myopathy type 2 Hereditary inclusion body myopathy type 3 Hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy with early respiratory failure Hereditary inclusion body myopathy-joint contracturesophthalmoplegia syndrome Hereditary infantile gigantism Hereditary isolated aplastic anemia Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency Hereditary keratitis Hereditary keratoacanthoma Hereditary late-onset Parkinson disease Hereditary leiomyomatosis Hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis with renal carcinoma Hereditary lymphedema type I Hereditary lymphedema type II Hereditary macular atrophy Hereditary methemoglobinemia Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type 5 Hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy type III Hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers Hereditary motor and sensory neuropathy, Lom type Hereditary motor and sensory neuropathy, Okinawa type



81

ORPHA number 90117 99953 1839 171723 136 →3460 523 83454 2590 43115 1062 456333 456333 30925 640 279943 91378 168583 56 30 98868 79141 86923

86923

47044 99878 476102 168615

46532

251380

Disease name

Hereditary motor and sensory neuropathy, proximal type Hereditary motor and sensory neuropathy, Russe Type Hereditary mucoepithelial dysplasia Hereditary mucosal leukokeratosis Hereditary multi-infarct dementia Hereditary multicentric osteolysis Hereditary multiple cutaneous leiomyomas Hereditary multiple glomangiomas Hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary neurocutaneous malformation Hereditary neuroendocrine tumor of small bowel Hereditary neuroendocrine tumor of small intestine Hereditary neurogenic diabetes insipidus Hereditary neuropathy with liability to pressure palsies Hereditary neutrophilia Hereditary non histamine-induced angioedema Hereditary North American Indian childhood cirrhosis Hereditary ochronosis Hereditary orotic aciduria Hereditary ovalocytosis Hereditary painful callosities Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type Hereditary papillary renal cell carcinoma Hereditary parathyroids hyperplasia Hereditary pediatric Behçet-like disease Hereditary persistence of alphafetoprotein Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

ORPHA number 29072 300373 330061 178345 828 98808 158025 178464 264675

440427

275777 →288 85450 93560 238269 93562 93561 94088 788 357027 221039 280598 36386

139564

139564 970 1764 642 64752

Disease name

Hereditary pheochromocytomaparaganglioma Hereditary pituitary hyperplasia Hereditary polymorphous light eruption of American Indians Hereditary prepubertal gynecomastia Hereditary progressive arthroophthalmopathy Hereditary progressive dystonia with marked diurnal fluctuation Hereditary progressive mucinous histiocytosis Hereditary proximal myopathy with early respiratory failure Hereditary pulmonary alveolar proteinosis Hereditary pulmonary alveolar proteinosis with hepatic involvement Hereditary pulmonary arterial hypertension Hereditary pyropoikilocytosis Hereditary renal amyloidosis Hereditary renal amyloidosis due to apolipoprotein A-I variant Hereditary renal amyloidosis due to apolipoprotein A-II variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to lysozyme variant Hereditary renal hypouricemia Hereditary resistance to antivitamin K Hereditary retinoblastoma Hereditary sclerosing poikiloderma, Weary type Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 3 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5

ORPHA number 314381 391397 478664 36386 139564 970 1764 642 64752 314381 391397 478664

139573

391397

139578 456318

456318

213524 100996 822 84093 71493 480851 268322

71290

329319

Disease name

Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 8 Hereditary sensory and autonomic neuropathy type I Hereditary sensory and autonomic neuropathy type IB Hereditary sensory and autonomic neuropathy type II Hereditary sensory and autonomic neuropathy type III Hereditary sensory and autonomic neuropathy type IV Hereditary sensory and autonomic neuropathy type V Hereditary sensory and autonomic neuropathy type VI Hereditary sensory and autonomic neuropathy type VII Hereditary sensory and autonomic neuropathy type VIII Hereditary sensory and autonomic neuropathy with deafness and global delay Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction Hereditary sensory and autonomic neuropathy with spastic paraplegia Hereditary sensory neuropathydeafness-dementia syndrome Hereditary sensory neuropathysensorineural hearing lossdementia syndrome Hereditary site-specific ovarian cancer syndrome Hereditary spastic paraparesis type 15 Hereditary spherocytosis Hereditary thermosensitive neuropathy Hereditary thrombocythemia Hereditary thrombocytopenia with early-onset myelofibrosis Hereditary thrombocytopenia with normal platelets Hereditary thrombocytopenia with normal plateletshematological cancer predisposition syndrome Hereditary thrombocytosis with transverse limb defect



82

ORPHA number

Disease name

Hereditary thrombophilia due to congenital antithrombin 3 deficiency Hereditary thrombophilia due to 82 congenital antithrombin deficiency Hereditary thrombophilia due to 217467 congenital histidine-rich (poly-L) glycoprotein deficiency Hereditary thrombophilia due to 217467 congenital HRG deficiency Hereditary unconjugated 205 hyperbilirubinemia Hereditary unconjugated 79234 hyperbilirubinemia type 1 Hereditary unconjugated 79235 hyperbilirubinemia type 2 →247691 Hereditary vascular retinopathy Hereditary vascular retinopathy→247691 Raynaud phenomenon-migraine syndrome Hereditary vitamin D-resistant 93160 rickets 903 Hereditary von Willebrand disease 98805 Hereditary whispering dysphonia 170 Hereditary woolly hair syndrome 170 Hereditary wooly hair syndrome 3467 Hereditary xanthinuria 3202 Hereditary xerocytosis Heredopathia atactica 773 polyneuritiformis Heritable pulmonary arterial 275777 hypertension 3411 Herlyn-Werner syndrome 79430 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome type 183678 2 Hermansky-Pudlak syndrome type 231531 7 Hermansky-Pudlak syndrome type 231537 8 Hermansky-Pudlak syndrome type 280663 9 Hermansky-Pudlak syndrome with 183678 neutropenia Hermansky-Pudlak syndrome with 231500 pulmonary fibrosis Hermansky-Pudlak syndrome 231512 without pulmonary fibrosis Hernández-Aguirre Negrete 2139 syndrome 2786 Hernández-Fragoso syndrome →247691 HERNS syndrome 1930 Herpes simplex encephalitis Herpes simplex meningo1930 encephalitis 1930 Herpes simplex neuroinvasion 82

ORPHA Disease name number 1930 Herpetic encephalitis 208524 Herpetiform pemphigus 369


Hers disease

1486 Herva disease 314970 HES-L

137577 330012

314950 HES-M 314950 HES-N

171201

314962 HES-R 640 3450 3450 845 309192 309239 309178 309185 309246 796 309169 309155 309162 1041 2438 2744 740 79271 163 86908 415 276280 157215 774 457 435 35878 88639 602 79091 324381 178464 189 1808

Heterozygous microdeletion 17p11.2p12 Heterozygous OSMED Heterozygous otospondylomegaepiphyseal dysplasia Hexosaminidase A deficiency Hexosaminidase A deficiency, adult form Hexosaminidase A deficiency, B1 variant Hexosaminidase A deficiency, infantile form Hexosaminidase A deficiency, juvenile form Hexosaminidase activator deficiency Hexosaminidases A and B deficiency Hexosaminidases A and B deficiency, adult form Hexosaminidases A and B deficiency, infantile form Hexosaminidases A and B deficiency, juvenile form HF HFGS HGPPS HGPS HGSNAT deficiency HHCS HHE syndrome HHH syndrome HHML HHRH HHT HI HI syndrome HI/HA syndrome HIBCH deficiency HIBM2 HIBM3 HIBM4 HIBM-ERF Hidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia, Christianson-Fourie type

314029 314029

480541

363396 3181 231080 251646 213777 213731 213777 213731 101088 101089 101090 101091 101092 183663 183666 99978 99978 84085 84085 1164 2114 3408 411593 65684 388 261537

261552

261537

Disease name

Hidrotic ectodermal dysplasia, Halal type HIDS HIE High altitude pulmonary edema High anorectal malformation High bone mass OI High bone mass osteogenesis imperfecta High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement High myopia-sensorineural deafness syndrome High scapula High-grade dysplasia in patients with Barrett esophagus High-grade ependymoma High-grade neuroendocrine carcinoma of the cervix uteri High-grade neuroendocrine carcinoma of the corpus uteri High-grade neuroendocrine carcinoma of the uterine cervix High-grade neuroendocrine carcinoma of the uterine corpus HIGM1 HIGM2 HIGM3 HIGM4 HIGM5 HIGM with susceptibility to opportunistic infections HIGM without susceptibility to opportunistic infections Hilar CCA Hilar cholangiocarcinoma Hinman syndrome Hinman-Allen syndrome Hinson-Pepys disease Hip dysplasia, Beukes type Hip dysplasia-enchondromataecchondroma syndrome Hirata disease Hirayama disease Hirschsprung disease Hirschsprung disease and intellectual disability due to 2q22 microdeletion Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Hirschsprung disease and intellectual disability due to del(2)(q22)



83

ORPHA number

Disease name

Hirschsprung disease and 261537 intellectual disability due to 2155 2151 2152

2153

2150 2026 2156 3283 2157 2157 2157 2157 2157 2158 50918 86896 137675 390 3325 →138 443291 443291 1573 572 572 2248 412 523 2213 178464 20 35701 157794 64748 773 64751 401964 64748 90119 99950

monosomy 2q22 Hirschsprung disease-deafnesspolydactyly syndrome Hirschsprung diseaseganglioneuroblastoma syndrome Hirschsprung disease-intellectual disability syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease-type D brachydactyly syndrome Hirsutism-congenital gingival hyperplasia syndrome Hirsutism-skeletal dysplasiaintellectual disability syndrome His bundle tachycardia HIS deficiency Histidase deficiency Histidine ammonia-lyase deficiency Histidinemia Histidinuria Histidinuria-renal tubular defect syndrome Histiocytic necrotizing lymphadenitis Histiocytic sarcoma Histiocytoid cardiomyopathy Histoplasmosis HIT Hittner-Hirsch-Kreh syndrome HIV-associated cancer HIV-related cancer HJMD HLA class 2-negative SCID HLA class 2-negative severe combined immunodeficiency HLHS HLP type 3 HLRCC HMC syndrome HMERF HMG-CoA lyase deficiency HMG-CoA synthase deficiency HMPS HMSN 3 HMSN 4 HMSN 5 HMSN2 with giant axons HMSN III HMSN with acrodystrophy HMSN, Lom type

ORPHA Disease name number 99950 HMSN-Lom 90117 HMSNP 99953 69084 93111 640 67037 1979 2349 391665 414 454718 →994 3328 93970 2143 79242 280200 2162 2165 2163 2117

2570

2570 280200 2166 3186 392 2167 2167 30924 34528 31043 2168 1361 2168 394

395

622

HMSNR HNED HNF1B-MODY HNPP HNSCC Hoepffner-Dreyer-Reimers syndrome Hoffman syndrome HoFH HOGA Holmes-Adie syndrome Holmes-Benacerraf syndrome Holmes-Collins syndrome Holmes-Gang syndrome Holmes-Schepens syndrome Holocarboxylase synthetase deficiency Holoprosencéphalie, minor form Holoprosencephaly Holoprosencephaly-caudal dysgenesis syndrome Holoprosencephalycraniosynostosis syndrome Holoprosencephaly-ectrodactylycleft lip/palate syndrome Holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome Holoprosencephaly-hypokinesiacongenital contractures syndrome Holoprosencephaly-like Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Holt-Oram syndrome Holzgreve syndrome Holzgreve-Wagner-Rehder syndrome HOMG1 HOMG2 HOMG3 Homocarnosinase deficiency Homocarnosinosis Homocarnosinosis Homocystinuria due to cystathionine beta-synthase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria

ORPHA number 56 163596 391665 14 →288 98958 98960 78 307936 2744 397 392 166412 1352 99907 2198 3322 306669 275777 98808 2162 280200 280200 46532 251380 436 293958 47044 79233 510 510 79233 79233 79233 79233 79430 183678 231531 231537 280663 231500 231512 99880 2323 84085 36386 139564

Disease name

Homogentisic acid oxidase deficiency Homozygous alpha0-thalassemia Homozygous familial hypercholesterolemia Homozygous familial hypobetalipoproteinemia Homozygous hereditary elliptocytosis Honey-droplet corneal dystrophy Honeycomb corneal dystrophy Hookworm infection HOPP syndrome Horizontal gaze palsy with progressive scoliosis Horton disease HOS Hot water reflex epilepsy Houlston-Ironton-Temple syndrome House allergic alveolitis Howell-Evans syndrome Hoyeraal-Hreidarsson syndrome HP-HA syndrome HPAH HPD with marked diurnal fluctuation HPE HPE, minor form HPE-L HPFH-beta-thalassemia syndrome HPFH-sickle cell disease syndrome HPP HPPD HPRCC HPRT1 partial deficiency HPRT complete deficiency HPRT deficiency grade IV HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPS HPS2 HPS7 HPS8 HPS9 HPS with pulmonary fibrosis HPS without pulmonary fibrosis HPT-JT HRD syndrome HS HSAN1 HSAN1B



84

ORPHA number 456318 HSAN1E 970 HSAN2 1764 642 64752 314381 391397 478664 139564 139573 391397 139578 2182 388 391417 85295 391428 391428 391457 391417 85295 391428 391428 391457 30924 456318 1930 285 289326

482077

482077 228116 438279 289326

289326 294973 295063 295061 294973 295063

Disease name

HSAN3 HSAN4 HSAN5 HSAN6 HSAN7 HSAN8 HSAN with cough and gastroesophageal reflux HSAN with deafness and global delay HSAN with hyperhidrosis and gastrointestinal dysfunction HSAN with spastic paraplegia HSAS HSCR HSD10 deficiency HSD10 deficiency, atypical type HSD10 deficiency, classic type HSD10 deficiency, infantile type HSD10 deficiency, neonatal type HSD10 disease HSD10 disease, atypical type HSD10 disease, classic type HSD10 disease, infantile type HSD10 disease, neonatal type HSH HSN1E HSV encephalitis HT-EDS HTLV-1-associated myelopathy/tropical spastic paraparesis HTRA1-related autosomal dominant cerebral angiopathy HTRA1-related autosomal dominant cerebral small vessel disease Hughes-Stovin syndrome Human infection by orthopoxvirus Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis Human T-lymphotropic virus type1-associated myelopathy/tropical spastic paraparesis Humeral agenesis/hypoplasia Humeral agenesis/hypoplasia, bilateral Humeral agenesis/hypoplasia, unilateral Humeral intercalary meromelia Humeral intercalary meromelia, bilateral

ORPHA number

Disease name

Humeral intercalary meromelia, unilateral 3265 Humero-radial fusion 295211 Humero-radial fusion, bilateral 295209 Humero-radial fusion, unilateral 3265 Humero-radial synostosis Humero-radial synostosis, 295211 bilateral Humero-radial synostosis, 295209 unilateral 3266 Humero-radio-ulnar fusion Humero-radio-ulnar fusion, 295207 bilateral Humero-radio-ulnar fusion, 295205 unilateral Humero-radio-ulnar intercalary 294975 transverse meromelia Humero-radio-ulnar intercalary 295087 transverse meromelia, bilateral Humero-radio-ulnar intercalary 295085 transverse meromelia, unilateral 3266 Humero-radio-ulnar synostosis Humero-radio-ulnar synostosis, 295207 bilateral Humero-radio-ulnar synostosis, 295205 unilateral →263463 Humero-spinal dysostosis 94056 Humero-ulnar fusion 295215 Humero-ulnar fusion, bilateral 295213 Humero-ulnar fusion, unilateral 94056 Humero-ulnar synostosis 295215 Humero-ulnar synostosis, bilateral Humero-ulnar synostosis, 295213 unilateral →263463 Humerospinal dysostosis 3383 Humerus trochlea aplasia 580 Hunter syndrome 217085 Hunter syndrome type A 217093 Hunter syndrome type B Hunter-Carpenter-McDonald →35069 syndrome Hunter-Jurenka-Thompson 2715 syndrome 97340 Hunter-McAlpine craniosynostosis 3365 Hunter-Rudd-Hoffmann syndrome 1390 Hunter-Thompson-Reed syndrome 399 Huntington chorea 399 Huntington disease Huntington disease phenocopy 401901 due to C9ORF72 expansions 157941 Huntington disease-like 1 98934 Huntington disease-like 2 157946 Huntington disease-like 3 98759 Huntington disease-like 4 295061

ORPHA number

Disease name

Huntington disease-like syndrome due to C9ORF72 expansions 363694 HUPRA syndrome 384 Huriez syndrome 93473 Hurler disease 93473 Hurler syndrome 93476 Hurler-Scheie syndrome 330061 Hutchinson summer prurigo Hutchinson-Gilford progeria 740 syndrome 93160 HVDRR 364039 HVLL →247691 HVR 53698 Hyaline body myopathy 498474 Hyaline fibromatosis syndrome 70587 Hyaline membrane disease 530 Hyalinosis cutis et mucosae 67041 Hyaluronidase deficiency 400 Hydatid disease 99927 Hydatidiform mole 400 Hydatidosis Hyde Forster-McCarthy-Berry 2898 syndrome 2177 Hydranencephaly 330021 Hydrargyria 330061 Hydroa aestivale 330058 Hydroa vacciniforme Hydroa vacciniforme-like 364039 lymphoma Hydrocephalus with stenosis of 2182 the aqueduct of Sylvius Hydrocephalus-agyria-retinal 899 dysplasia syndrome Hydrocephalus-blue sclerae2186 nephropathy syndrome Hydrocephalus-cleft palate-joint 916 contractures syndrome Hydrocephalus-costovertebral 2180 dysplasia-Sprengel anomaly syndrome Hydrocephalus-endocardial 2119 fibroelastosis-cataract syndrome Hydrocephalus-obesity2183 hypogonadism syndrome Hydrocephaly-cerebellar agenesis 1397 syndrome Hydrocephaly-low insertion 2184 umbilicus syndrome Hydrocephaly-tall stature-joint 2181 laxity syndrome Hydrocephaly/hydranencephaly 221126 due to cerebral vasculopathy 2189 Hydrolethalus Hydrometrocolpos-postaxial 2473 polydactyly syndrome 401901



85

ORPHA number 2704 1041 1426 20 401 309147 343 101090 101088 101088 101092 101092 101088 101089 101090 101091 101092 183663

183666 309147 927

401948

168588 90 234 3111 276405 306661 2196

209902

83639 1032 470 3197

Disease name

Hydronephrosis-inverted smile syndrome Hydrops fetalis Hydrops-ectopic calcificationmotheaten syndrome Hydroxymethylglutaric aciduria Hymenolepiasis Hyper-beta-alaninemia Hyper-IgD syndrome Hyper-IgM syndrome due to CD40 deficiency Hyper-IgM syndrome due to CD40 ligand deficiency Hyper-IgM syndrome due to CD40L deficiency Hyper-IgM syndrome due to UNG deficiency Hyper-IgM syndrome due to uracil N-glycosylase Hyper-IgM syndrome type 1 Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome with susceptibility to opportunistic infections Hyper-IgM syndrome without susceptibility to opportunistic infections Hyperalaninemia Hyperammonemia due to Nacetylglutamate synthase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency Hyperargininemia Hyperbilirubinemia type 2 Hyperbilirubinemia, Rotor type Hyperbiliverdinemia Hypercalcemic tumoral calcinosis Hypercalciuria-bilateral macular coloboma syndrome Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hyperdibasic aminoaciduria type 1 Hyperdibasic aminoaciduria type 2 Hyperekplexia

ORPHA Disease name number 163985 Hyperekplexia-epilepsy syndrome 408 Hyperglycerolemia 2410 243 2157 742 343 2314 2314 343 343 79299 324575 263455 263458 263458

276603

71212

276598

276556 79299 71212 324575 263455 263458

165991

71212

Hypergonadotropic hypogonadism-cataract syndrome Hypergonadotropic ovarian dysgenesis Hyperhistidinemia Hyperimidodipeptiduria Hyperimmunoglobinemia D with recurrent fever Hyperimmunoglobulin E syndrome type 1 Hyperimmunoglobulin E-recurrent infection syndrome Hyperimmunoglobulinemia D syndrome Hyperimmunoglobulinemia D with periodic fever Hyperinsulinemic hypoglycemia due to glucokinase deficiency Hyperinsulinemic hypoglycemia due to HNF1A deficiency Hyperinsulinemic hypoglycemia due to HNF4A deficiency Hyperinsulinemic hypoglycemia due to INSR deficiency Hyperinsulinemic hypoglycemia due to insulin receptor deficiency Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxideresistant focal form Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacylCoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxideresistant focal form Hyperinsulinemic hypoglycemia due to UCP2 deficiency Hyperinsulinism due to glucokinase deficiency Hyperinsulinism due to glutamodehydrogenase deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Hyperinsulinism due to SCHAD deficiency

ORPHA number

Disease name

Hyperinsulinism due to short chain 71212 3-hydroxylacyl-CoA dehydrogenase

deficiency Hyperinsulinism due to SLC16A1 165991 deficiency Hyperinsulinism due to UCP2 276556 deficiency Hyperinsulinism35878 hyperammonemia syndrome Hyperkalemia-hypertension 757 syndrome, Gordon type 682 Hyperkalemic periodic paralysis 682 Hyperkalemic PP Hyperkeratosis lenticularis 409 perstans Hyperkeratosis-contracture 1662 syndrome Hyperkeratosis1336 hyperpigmentation syndrome 682 HyperKPP Hyperlipidemia due to hepatic 140905 lipase deficiency Hyperlipidemia due to hepatic 140905 triacylglycerol lipase deficiency Hyperlipidemia due to hepatic 140905 triglyceride lipase deficiency Hyperlipidemia due to HL 140905 deficiency Hyperlipidemia due to HTGL 140905 deficiency 412 Hyperlipidemia type 3 →444490 Hyperlipoproteinemia type 1 412 Hyperlipoproteinemia type 3 70470 Hyperlipoproteinemia type 5 2203 Hyperlysinemia 2203 Hyperlysinemia type I 3124 Hyperlysinemia type II Hypermethioninemia due to 289891 glycine N-methyltransferase deficiency Hypermethioninemia due to 289891 GNMT deficiency Hypermethioninemia due to S88618 adenosylhomocysteine hydrolase deficiency Hypermethioninemia 289290 encephalopathy due to adenosine kinase deficiency Hypermethioninemia 289290 encephalopathy due to ADK deficiency 73267 Hypernychthemeral syndrome 414 Hyperornithinemia Hyperornithinemia-gyrate atrophy 414 of choroid and retina syndrome



86

ORPHA number 415

2801 3416 443098 77296 2780 99880 295002 295140 295142 295140 1388 238583 13

238583 1578

226

2102

1578

238583 1578 2209 3416 247262 →79189 157798 682 419 79101 93604 889 1519 2211

Disease name

Hyperornithinemiahyperammonemiahomocitrullinuria syndrome Hyperostosis corticalis deformans juvenilis Hyperostosis corticalis generalisata Hyperostosis cranialis interna Hyperostosis frontalis interna Hyperostosis generalisata with striations Hyperparathyroidism-jaw tumor syndrome Hyperphalangy Hyperphalangy in digits 2-5 Hyperphalangy, bilateral Hyperphalangy, unilateral Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Hyperphenylalaninemia Hyperphenylalaninemia due to 6pyruvoyltetrahydropterin synthase deficiency Hyperphenylalaninemia due to BH4 deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to dihydropteridine reductase deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia with primapterinuria Hyperphenylalaninemic embryopathy Hyperphosphatasemia tarda Hyperphosphatasia-intellectual disability syndrome Hyperpipecolatemia Hyperplastic polyposis syndrome HyperPP Hyperprolinemia type 1 Hyperprolinemia type 2 Hyperprostaglandin E syndrome Hypersensitivity angiitis Hypertelorism, Teebi type Hypertelorism-hypospadiaspolysyndactyly syndrome

ORPHA number 2213

2745

293958

293958

88660 757 423 2220 2222 2222 2026 966 966 1231 966

319182

1517

324525

324525

217601 329883 90282 2224 363694

251523 276429

Disease name

Hypertelorism-microtia-facial clefting syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypertelorism-preauricular sinuspunctual pits-deafness syndrome Hypertelorism-preauricular sinuspunctual pits-hearing loss syndrome Hypertension due to gain-offunction mutations in the mineralocorticoid receptor Hypertensive hyperkalemia Hyperthermia of anesthesia Hypertrichosis cubiti Hypertrichosis lanuginosa congenita Hypertrichosis universalis Hypertrichosis with or without gingival hyperplasia Hypertrichosis-acromegaloid facial appearance syndrome Hypertrichosis-acromegaloid facial features syndrome Hypertrichosis-atrophic skinectropion-macrostomia syndrome Hypertrichosis-coarse face syndrome Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Hypertrichotic osteochondrodysplasia, Cantu type Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation Hypertrophic cardiomyopathy due to intensive athletic training Hypertrophic gastropathy without hypoproteinemia Hypertrophic or verrucous lupus erythematosus Hypertryptophanemia Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Hyperzincemia and hypercalprotectinemia Hypnic headache

ORPHA number

Disease name

Hypo- and hypermelanotic cutaneous macules-retarded 2435 growth-intellectual disability syndrome Hypocalcemic vitamin D289157 dependent rickets Hypocalcemic vitamin D-resistant 93160 rickets Hypocalcified amelogenesis 100032 imperfecta 93297 Hypochondrogenesis 429 Hypochondroplasia Hypocomplementemic urticarial 36412 vasculitis Hypodontia-dysplasia of nails 2228 syndrome Hypodontia-nail dysgenesis 2228 syndrome 185 Hypogenetic lung syndrome Hypoglossia-hypodactyly 989 syndrome Hypogonadism-gynecomastia-X→261483 linked intellectual disability syndrome Hypogonadism-mitral valve 2233 prolapse-intellectual disability syndrome Hypogonadism-short stature141333 coloboma-preaxial polydactyly syndrome Hypogonadotropic hypogonadism2230 frontoparietal alopecia syndrome Hypogonadotropic hypogonadism2235 retinitis pigmentosa syndrome Hypogonadotropic hypogonadism293967 severe microcephaly-sensorineural deafness-dysmorphism syndrome Hypogonadotropic hypogonadismsevere microcephaly-sensorineural 293967 hearing loss-dysmorphism syndrome Hypohidrosis-enamel hypoplasia363523 palmoplantar keratodermaintellectual disability syndrome 238468 Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia 98813 with immunodeficiency Hypohidrotic ectodermal 1882 dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypoinsulinemic hypoglycemia 293964 and body hemihypertrophy 681 Hypokalemic periodic paralysis Hypomagnesemia caused by 30924 selective magnesium malabsorption



87

ORPHA Disease name number 30924 Hypomagnesemia intestinal type 1 1790 100033

100034 435 495844 2680 139441

363412

447893

85163

88637

3453

2237 2323

2323 436 314621 99725 324561 42665

79477

79476

324561

91354 →3157

Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomelanosis of Ito Hypomyelinating leukodystrophy due to hikeshi deficiency Hypomyelination neuropathyarthrogryposis syndrome Hypomyelination with atrophy of basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Hypomyelination-congenital cataract syndrome Hypomyelinationhypogonadotropic hypogonadismhypodontia syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Hypoparathyroidism-deafnessrenal disease syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disabilityseizures syndrome Hypophosphatasia Hypophyseal duplication Hypophyseal gigantism Hypopigmentation and punctate keratosis of the palms and soles Hypopigmentation-deafness syndrome Hypopigmentationimmunodeficiency with or without neurologic impairment syndrome Hypopigmentation-neurologic impairment syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopituitarism due to empty sella turcica syndrome Hypopituitarism-micropenis-cleft lip/palate syndrome

ORPHA number

Disease name

Hypopituitarism-microphthalmia syndrome Hypoplasia of the mitral valve 99058 annulus 722 Hypoplasminogenemia Hypoplastic amelogenesis 100031 imperfecta 2248 Hypoplastic left heart syndrome Hypoplastic pancreas-intestinal 293864 atresia-hypoplastic gallbladder syndrome Hypoplastic tibiae-postaxial 3332 polydactyly syndrome Hypoprebetalipoproteinemiaacanthocytosis-retinitis →216866 pigmentosa-pallidal degeneration syndrome 327 Hypoproconvertinemia Hypoproteinemic hypertrophic 2494 gastropathy 325 Hypoprothrombinemia Hyposmia-nasal and ocular 2250 hypoplasia-hypogonadotropic hypogonadism syndrome 2745 Hypospadias-dysphagia syndrome Hypospadias-hypertelorism 2745 syndrome Hypospadias-hypertelorism→1299 coloboma and deafness syndrome Hypospadias-intellectual 2261 disability, Goldblatt type syndrome Hypotelorism-cleft palate2353 hypospadias syndrome Hypothalamic adipsic 443101 hypernatraemia syndrome Hypothalamic hamartoblastoma 672 syndrome Hypothalamic hamartomas with 86906 gelastic seizures Hypothalamic insufficiencysecondary microcephaly-visual →3157 impairment-urinary anomalies syndrome Hypothyroidism due to deficient 226307 transcription factors involved in pituitary development or function Hypothyroidism due to TSH 90673 receptor mutations Hypothyroidism-cleft palate 1226 syndrome Hypothyroidism-dysmorphism3047 postaxial polydactyly-intellectual disability syndrome Hypotonia and ichthyosis due to 91131 dolichol phosphate deficiency →3157

ORPHA number 137908 163690 79507 371364 55654 90368 1573 1573 444 91132 330029 2266

69735

69735

307936

307936

307936

307936

79233

510

79233

510

79233

Disease name

Hypotonia with lactic acidemia and hyperammonemia Hypotonia-cystinuria syndrome Hypotonia-failure to thrivemicrocephaly syndrome Hypotonia-speech impairmentsevere cognitive delay syndrome Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis with juvenile macular degeneration Hypotrichosis with juvenile macular dystrophy Hypotrichosis, Marie Unna type Hypotrichosis-congenital ichthyosis syndrome Hypotrichosis-deafness syndrome Hypotrichosis-intellectual disability, Lopes type Hypotrichosis-lymphedematelangiectasiamembranoproliferative glomerulonephritis syndrome Hypotrichosis-lymphedematelangiectasia-renal defect syndrome Hypotrichosis-osteolysisperiodontitis-palmoplantar hyperkeratosis syndrome Hypotrichosis-osteolysisperiodontitis-palmoplantar keratoderma syndrome Hypotrichosis-striate palmoplantar hyperkeratosisacroosteolysis-periodontitis syndrome Hypotrichosis-striate palmoplantar keratodermaacroosteolysis-periodontitis syndrome Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency Hypoxanthine guanine phosphoribosyltransferase complete deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV Hypoxanthine guanine phosphoribosyltransferase partial deficiency



88

ORPHA number 137577 137577 682 63440 63440 576 480512 724 158048 293168 254509 95619 363424 →33364 611 602 79091 52430 37202 37202 31709 64734 2268 455 457 289586 457 2273 2273 79504 79503 79503 281190 281190 79504 2269

91132

91132

2274 91132 59303

Disease name

Hypoxic and ischemic brain injury in the newborn Hypoxic-ischemic encephalopathy HYPP Hypsicephaly Hypsocephaly I-cell disease IAD IAEP IAHS IAHSP Iatrogenic botulism Iatrogenic or traumatic pituitary deficiency IBA57 deficiency IBIDS syndrome IBM IBM2 IBM3 IBMPFD IC/BPS IC/PBS ICCA syndrome ICE syndrome ICF syndrome Ichthyosis bullosa of Siemens Ichthyosis congenita, Harlequin type Ichthyosis exfoliativa Ichthyosis fetalis, Harlequin type Ichthyosis follicularis-alopeciaphotophobia syndrome Ichthyosis follicularis-atrichiaphotophobia syndrome Ichthyosis hystrix gravior Ichthyosis hystrix of Curth-Macklin Ichthyosis hystrix, Curth-Macklin type Ichthyosis variegata Ichthyosis with confetti Ichthyosis, Lambert type Ichthyosis-alopecia-eclabionectropion-intellectual disability syndrome Ichthyosis-follicular atrophoderma-hypotrichosis syndrome Ichthyosis-follicular atrophoderma-hypotrichosishypohidrosis syndrome Ichthyosis-hepatosplenomegalycerebellar degeneration syndrome Ichthyosis-hypotrichosis syndrome Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome

ORPHA number 2278

→1643 2272 88621 363992 289347 3306 930 930 724 139423 480512 422 280914 88 206599 399307 399307 1980 171684 84065 88 60033 1320 1320 188 163703 228000 169615 2902 95717 209919 35062 35062 447881 480512

Disease name

Ichthyosis-intellectual disabilitydwarfism-renal impairment syndrome Ichthyosis-male hypogonadism syndrome Ichthyosis-oral and digital anomalies syndrome Ichthyosis-prematurity syndrome Ichthyosis-short staturebrachydactyly-microspherophakia syndrome IDH idic(15) Idiopathic achalasia Idiopathic achalasia of esophagus Idiopathic acute eosinophilic pneumonia Idiopathic acute transverse myelitis Idiopathic adult ductopenia Idiopathic and/or familial pulmonary arterial hypertension Idiopathic anterior uveitis Idiopathic aplastic anemia Idiopathic asymptomatic hyperCKemia Idiopathic avascular necrosis Idiopathic AVN Idiopathic basal ganglia calcification Idiopathic bilateral vestibulopathy Idiopathic bile acid malabsorption Idiopathic bone marrow failure Idiopathic bronchiectasis Idiopathic camptocormia Idiopathic camptocormism Idiopathic capillary leak syndrome Idiopathic catastrophic epileptic encephalopathy Idiopathic CD4 lymphocytopenia Idiopathic central precocious puberty Idiopathic chronic eosinophilic pneumonia Idiopathic congenital hypothyroidism Idiopathic copper-associated cirrhosis Idiopathic disseminated CMV infection Idiopathic disseminated cytomegalovirus infection Idiopathic dropped head syndrome Idiopathic ductopenia

ORPHA Disease name number 256 Idiopathic dystonia 247724 Idiopathic eosinophilic myositis 329874 Idiopathic giant cell myocarditis 64722 86908 2197 3260 33208 228315 228318 449427 1572 51608 238624 85193 247234 314017 33577 90158 353344 353351 84065 73 97560 2573 2774 824 45452 33577 51608 441 280921 747 480524 480524 444316 444316

Idiopathic granulomatous mastitis Idiopathic hemiconvulsionhemiplegia syndrome Idiopathic hypercalciuria Idiopathic hypereosinophilic syndrome Idiopathic hypersomnia Idiopathic hypersomnia with long sleep time Idiopathic hypersomnia without long sleep time Idiopathic hypertrophic pachymeningitis Idiopathic immunoglobulin deficiency Idiopathic infantile arterial calcification Idiopathic intracranial hypertension Idiopathic juvenile osteoporosis Idiopathic late-onset cerebellar ataxia Idiopathic linear interstitial keratitis Idiopathic lobular panniculitis Idiopathic localized lipodystrophy Idiopathic macular telangiectasia type 1 Idiopathic macular telangiectasia type 3 Idiopathic malabsorption due to bile acid synthesis defects Idiopathic massive osteolysis Idiopathic membranous glomerulonephritis Idiopathic Moyamoya disease Idiopathic multicentric osteolysis with or without nephropathy Idiopathic myelofibrosis Idiopathic neonatal atrial flutter Idiopathic nodular panniculitis Idiopathic obliterative arteriopathy Idiopathic orthostatic hypotension Idiopathic panuveitis Idiopathic PAP Idiopathic peliosis hepatis Idiopathic peliosis hepatitis Idiopathic phalangeal acroosteolysis Idiopathic phalangeal acroosteolysis



89

ORPHA number 494428 494428 280917 1320 747 275766 1676 2032 99931 35061 251307 276174 251307 40923 40923 209943 49041 458718 35065 458718 69061

93209

93206

93206

93207 99858 256 98806 3347 209956 130

Disease name

Idiopathic pleuroparenchymal fibroelastosis Idiopathic pleuropulmonary fibroelastosis Idiopathic posterior uveitis Idiopathic progressive lumbar kyphosis Idiopathic pulmonary alveolar proteinosis Idiopathic pulmonary arterial hypertension Idiopathic pulmonary artery dilatation Idiopathic pulmonary fibrosis Idiopathic pulmonary hemosiderosis Idiopathic recurrent and disabling cutaneous herpes Idiopathic recurrent pericarditis Idiopathic recurrent stupor Idiopathic relapsing pericarditis Idiopathic retinal perivasculitis Idiopathic retinal vasculitis Idiopathic retinal vasculitisaneurysms-neuroretinitis syndrome Idiopathic retroperitoneal fibrosis Idiopathic SCAD Idiopathic severe pneumococcemia Idiopathic spontaneous coronary artery dissection Idiopathic steroid-sensitive nephrotic syndrome Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Idiopathic steroid-sensitive nephrotic syndrome with minimal change Idiopathic syringomyelia Idiopathic torsion dystonia Idiopathic torsion dystonia of mixed type Idiopathic tracheobronchomegaly Idiopathic uveal effusion syndrome Idiopathic ventricular fibrillation, Brugada type

ORPHA number 228140 280384 580 217085 217093 92050 91132 2273 332 329903 329903 761 329874 79099 73272 449400 79078 449566 90003 449395 63999 238593 449563 449427 280302 449400 49041 447764 449432 449432 64744 183675 329235 364013 86908 371364 91132 59303 238624 85193 238569 238569 477661

Disease name

Idiopathic ventricular fibrillation, non Brugada type IDMDC Iduronate 2-sulfatase deficiency Iduronate 2-sulfatase deficiency type A Iduronate 2-sulfatase deficiency type B IED IFAH syndrome IFAP syndrome IFD Ig-mediated membranoproliferative glomerulonephritis Ig-mediated MPGN IgA vasculitis IGCM IGDA IGF-1 deficiency IgG4-related aortitis IgG4-related dacryoadenitis and sialadenitis IgG4-related eosinophilic angiocentric fibrosis IgG4-related hepatopathy IgG4-related kidney disease IgG4-related mediastinitis IgG4-related mesenteritis IgG4-related ophthalmic disease IgG4-related pachymeningitis IgG4-related pancreatitis IgG4-related periaortitis IgG4-related retroperitoneal fibrosis IgG4-related sclerosing cholangitis IgG4-related sialadenitis IgG4-related submandibular gland disease IgG4-related thyroid disease IgG subclass deficiency with IgA subclass deficiency IGSF1 deficiency syndrome IHF IHHS IHPRF syndrome IHS IHSC IIH IJO IL10-related early-onset IBD IL10-related early-onset inflammatory bowel disease IL21-related infantile IBD

ORPHA number 477661 100078 100078 238621 1150 79466 85173 247718 42062 284362 398987 289465 →244 2901

169090

238569

37042 364013 364013 364013 364013 206569 1959 3002 3002 206569 206575 86886 34592 572

169147

169150

Disease name

IL21-related infantile inflammatory bowel disease Ileal neuroendocrine neoplasm Ileal neuroendocrine tumor Ileal pouch anal anastomosis related faecal incontinence Illum syndrome ILVEN IMAGe syndrome IMAM Iminoglycinuria Immature interstitial mesenchymal tumor Immature teratoma of ovary Immigration delay disease Immotile cilia syndrome, Kartagener type Immune brachial plexus neuropathy Immune dysfunction due to T-cell inactivation due to calcium entry defect Immune dysregulationinflammatory bowel diseasearthritis-recurrent infections syndrome Immune dysregulationpolyendocrinopathy-enteropathyX-linked syndrome Immune fetal edema Immune fetal hydrops Immune HF Immune hydrops fetalis Immune myopathy with myocyte necrosis Immune pancytopenia Immune thrombocytopenia Immune thrombocytopenic purpura Immune-mediated necrotizing myopathy Immune-mediated rippling muscle disease Immunoblastic lymphadenopathy Immunodeficiency by defective expression of HLA class 1 Immunodeficiency by defective expression of HLA class 2 Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a late component of complement deficiency



90

ORPHA number

Disease name

Immunodeficiency due to an early 169147 component of complement

169147

169150 169100 331190

70592

331187

70593

200421 200418

2268

647 935 761 169110

329903 329903 100025 97567 97567 456312 206569 857 2759 71276 35069 35069 254509 45453 79263

deficiency Immunodeficiency due to C1, C4, or C2 component complement deficiency Immunodeficiency due to C5 to C9 component complement deficiency Immunodeficiency due to CD25 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency with factor H anomaly Immunodeficiency with factor I anomaly Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-microcephalychromosomal instability syndrome Immunodeficiency-short limb dwarfism syndrome Immunoglobulin A vasculitis Immunoglobulin heavy chain deficiency Immunoglobulin-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN Immunoproliferative small intestinal disease Immunotactoid glomerulonephritis Immunotactoid glomerulopathy IMNEPD IMNM Imperforate anus with hand, foot and ear anomalies Imperforate oropharynx-costo vertebral anomalies syndrome Imploding antrum syndrome INAD INAD1 Inadvertent botulism Incessant infant ventricular tachycardia INCL

ORPHA Disease name number 231226 Inclusion body beta-thalassemia 199267 Inclusion body fibromatosis 602 Inclusion body myopathy type 2 79091 52430 611 254693 314466 254693 157769 180079 180079 464 435 158019 158019 1388 98848 1909 70587 70587 178478 1943 178478 178478 178478 70587 178487 247165 99749 99725 70590 51608 2679 89938 178478 314911 137675 217557 313850

Inclusion body myopathy type 3 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myositis Incomplete hydatidiform mole Incomplete Meigs syndrome Incomplete molar pregnancy Incomplete situs inversus Incomplete unilateral aplasia of the Müllerian ducts Incomplete unilateral Müllerian aplasia Incontinentia pigmenti Incontinentia pigmenti type 1 Indeterminate cell histiocytosis Indeterminate Dendritic Cell Tumor Index finger anomaly-Pierre Robin syndrome Indolent systemic mastocytosis Indomethacin embryofetopathy Infant acute respiratory distress syndrome Infant ARDS Infant botulism Infant epilepsy with migrant focal crisis Infant intestinal botulism Infant intestinal toxemia botulism Infant intestinal toxin-mediated botulism Infant respiratory distress syndrome Infant-like botulism Infantile acrodynia Infantile agranulocytosis Infantile and juvenile forms of acromegaly Infantile apnea Infantile arteriosclerosis Infantile axonal neuropathy Infantile Bartter syndrome with sensorineural deafness Infantile botulism Infantile Canavan disease Infantile cardiomyopathy with histiocytoid change Infantile cellular interstitial pneumonitis Infantile cerebellar-retinal degeneration

ORPHA number

Disease name

Infantile cerebral and cerebellar 402364 atrophy with postnatal progressive 77260 1313 31709 1310 199267 87876 238455 364063 300373 289860 79255 309155 293603

352563 247651 371364

79076 206436 1928 667 247165 247165 456312 2591 79263 93591 35069 79263 289860 289860

251304

1186 67047

microcephaly Infantile cerebral Gaucher disease Infantile choroidocerebral calcification syndrome Infantile convulsions and choreoathetosis Infantile cortical hyperostosis Infantile digital fibromatosis Infantile dysmorphic sialidosis Infantile dystonia-parkinsonism Infantile epileptic-dyskinetic encephalopathy Infantile gigantism due to pituitary hyperplasia Infantile glycine encephalopathy Infantile GM1 gangliosidosis Infantile GM2 gangliosidosis 0 variant Infantile hereditary endothelial dystrophy Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypophosphatasia Infantile hypotonia-psychomotor retardation-characteristic facies syndrome Infantile juvenile polyposis syndrome Infantile Krabbe disease Infantile lobar hyperinflation Infantile malignant osteopetrosis Infantile mercury intoxication Infantile mercury poisoning Infantile multisystem neurologicendocrine-pancreatic disease Infantile myofibromatosis Infantile NCL Infantile nephronophthisis Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile NKH Infantile non-ketotic hyperglycinemia Infantile onset panniculitis with uveitis and systemic granulomatosis Infantile onset spinocerebellar ataxia Infantile optic atrophy with chorea and spastic paraplegia



91

ORPHA number 85179 247651 247651 772 254864

263410

3451 3173 83330 255241

255249 2176 2768 137675 293168

284332

457205

494526

391316

1451 494526 500062

352403

171714

1145 781 279922 137593

Disease name

Infantile osteopetrosis with neuroaxonal dysplasia Infantile phosphoethanolaminuria Infantile Rathburn disease Infantile Refsum disease Infantile reversible cytochrome C oxidase deficiency myopathy Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile spasms Infantile spasms-broad thumbs syndrome Infantile spinal muscular atrophy Infantile subacute necrotizing encephalopathy with leukodystrophy Infantile subacute necrotizing encephalopathy with nephrotic syndrome Infantile systemic hyalinosis Infantile tibia vara Infantile xanthomatous cardiomyopathy Infantile-onset ascending hereditary spastic paralysis Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Infantile-onset axonal motor and sensory neuropathy-optic atrophyneurodegenerative syndrome Infantile-onset generalized dyskinesia with orofacial involvement Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Infantile-onset multisystem inflammatory disease Infantile-onset orofacial-trunklimbs dyskinesia Infantile-onset periodic feverpanniculitis-dermatosis syndrome Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome Infantile-onset X-linked spinal muscular atrophy Infection due to Coxiella burnetii Infectious anterior uveitis Infectious epithelial keratitis

ORPHA Disease name number 279925 Infectious panuveitis 279919 Infectious posterior uveitis 289347

289347

289347 99123 155889 99123 280794 280794 85445 79466 178342 160148 247718 263553 48918 90003 238305 95513 1849 247257 254504 247257 254504 319465 319465 319462 282166 210141 210141 282166 859 100054

Infective dermatitis associated with HTLV-1 Infective dermatitis associated with human T-lymphotropic virus type 1 Infective dermatitis associated with human T-lymphotropic virus type I Inferior caval vein interruption Inferior palpebral coloboma Inferior vena cava interruption Infiltrative small vesicular DCM Infiltrative small vesicular diffuse cutaneous mastocytosis Inflammatory amyloidosis Inflammatory linear verrucous epidermal nevus Inflammatory myofibroblastic tumor Inflammatory myoglandular polyps Inflammatory myopathy with abundant macrophages Inflammatory peeling skin syndrome Inflammatory pseudotumor of skeletal muscle Inflammatory pseudotumor of the liver Infundibulo-neurohypophysitis Infundibulo-panhypophysitis Infundibulopelvic stenosismulticystic kidney syndrome Inhalation anthrax disease Inhalation botulism Inhalational anthrax Inhalational botulism Inherited acute myeloid leukemia Inherited AML Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited CJD Inherited congenital spastic quadriplegia Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited deficiency of transcobalamin Inherited estrogen-associated angioedema

ORPHA number

Disease name

Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent 100054 angioedema Inherited estrogen-dependent 100054 angioneurotic edema Inherited glutamine synthetase 71278 deficiency 71278 Inherited GS deficiency Inherited isolated adrenal 289548 insufficiency due to partial CYP11A1 deficiency Inherited predisposition to 225968 essential thrombocythemia 37 Inherited zinc deficiency 63259 Iniencephaly 178475 Inoculation botulism 411593 Insulin autoimmune syndrome Insulin-resistance syndrome type 2297 A Insulin-resistance syndrome type 2298 B 97279 Insulinoma Intellectual disability associated 100973 with fragile site FRAXE Intellectual disability syndrome 464311 due to a DYRK1A point mutation Intellectual disability, Birk-Barel 166108 type Intellectual disability, Buenos3079 Aires type →324737 Intellectual disability, Kahrizi type Intellectual disability, Mietens2557 Weber type 3080 Intellectual disability, Wolff type Intellectual disability-alacrima289483 achalasia syndrome Intellectual disability-aphasia2466 shuffling gait-adducted thumbs syndrome Intellectual disability-balding3041 patella luxation-acromicria syndrome Intellectual disability364577 brachydactyly-Pierre Robin syndrome Intellectual disability-cataract→324737 coloboma-kyphosis syndrome Intellectual disability-cataracts3042 calcified pinnae-myopathy syndrome Intellectual disability-cataracts171860 kyphosis syndrome Intellectual disability-coarse face397709 macrocephaly-cerebellar hypoplasia syndrome 100054



92

ORPHA number

Disease name

ORPHA number

Intellectual disability-coarse face397709 macrocephaly-cerebellar

329224

3454

3044

→280

171851

2139 127 468620

435638

436151

404440

370010

363611

369847

1495

314575

166108 356996 3451

436151

hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disabilitydevelopmental delay-contractures syndrome Intellectual disabilitydysmorphism-hypogonadismdiabetes mellitus syndrome Intellectual disabilitydysmorphism-intrauterine growth retardation syndrome Intellectual disability-enteropathydeafness-peripheral neuropathyichthyosis-keratodermia syndrome Intellectual disability-epilepsybulbous nose syndrome Intellectual disability-epilepsyendocrine disorders syndrome Intellectual disability-epilepsyextrapyramidal syndrome Intellectual disability-epilepsystereotypic hand movement syndrome Intellectual disability-expressive aphasia-facial dysmorphism syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-feeding difficulties-developmental delaymicrocephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotoniabrachycephaly-pyloric stenosiscryptorchidism syndrome Intellectual disability-hypotoniafacial dysmorphism syndrome Intellectual disability-hypotoniaspasticity-sleep disorder syndrome Intellectual disabilityhypsarrhythmia syndrome Intellectual disability-loss of expressive language-facial dysmorphism syndrome

457279

3067

468678

457365

3068

352530

397973

3082

369837

369950

391372

3409

3074

1240

3051 1891 363528 397941

75858 1478 1478 51890 86900

Disease name

Intellectual disabilitymacrocephaly-hypotoniabehavioral abnormalities syndrome Intellectual disabilitymicrocephaly-phalangeal-facial abnormalities syndrome Intellectual disabilitymicrocephaly-strabismusbehavioral abnormalities syndrome Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome Intellectual disability-myopathyshort stature-endocrine defect syndrome Intellectual disability-obesitybrain malformations-facial dysmorphism syndrome Intellectual disability-obesityprognathism-eye and skin anomalies syndrome Intellectual disability-polydactylyuncombable hair syndrome Intellectual disability-seizureshypotonia-ophthalmologic-skeletal anomalies syndrome Intellectual disability-seizuresmacrocephaly-obesity syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hand contractures-genital anomalies syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome Intellectual disability-sparse hairbrachydactyly syndrome Intellectual disability-spasticityectrodactyly syndrome Intellectual disability-strabismus syndrome Intellectual disability-truncal obesity syndrome Intellectual disability-truncal obesity-retinal dystrophymicropenis syndrome Interatrial communication Interauricular communication Intercostal nerve syndrome Interdigitating cell sarcoma

ORPHA number 86900 210115 169100 171208 268162 268162 411634 99989 86797 268162 268162 171433 210110 309331 83418 279914 268173 268173 90283 329967 268173 268173 →2686 981 37202 37202 37202 79099 440427 440402

440402

440392 440392 99092 1201 178481 178481

Disease name

Interdigitating dendritic cell sarcoma Interleukin-1 receptor antagonist deficiency Interleukin-2 receptor alpha chain deficiency Intermediate anorectal malformation Intermediate BCKD deficiency Intermediate branched-chain 2ketoacid dehydrogenase deficiency Intermediate cystinosis Intermediate DEND syndrome Intermediate lichen myxedematosus Intermediate maple syrup urine disease Intermediate MSUD Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate severe Salla disease Intermediate spinal muscular atrophy Intermediate uveitis Intermittent BCKD deficiency Intermittent branched-chain 2ketoacid dehydrogenase deficiency Intermittent cutaneous lupus Intermittent hydrarthrosis Intermittent maple syrup urine disease Intermittent MSUD Intermittent neutropenia Internal carotid agenesis Interstitial cystitis Interstitial cystitis/bladder pain syndrome Interstitial cystitis/painful bladder syndrome Interstitial granulomatous dermatitis with arthritis Interstitial lung and liver disease Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency Interstitial lung disease due to SPC deficiency Interstitial lung disease due to surfactant protein C deficiency Interventricular septum aneurysm Intestinal atresia type IIIb Intestinal botulism Intestinal colonization botulism



93

ORPHA Disease name number 92050 Intestinal epithelial dysplasia 30924 3452 3452

314376 86880 178481 178481 228371 46724 252006 91352 252006 137622 424058 424982 69665 280802 280802 99088 100003 268139 140436 137686 436144

85173

137686 98839 98839 332 324648 3306 457088 90078

Intestinal hypomagnesemia with secondary hypocalcemia Intestinal lipodystrophy Intestinal lipophagic granulomatosis Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intestinal T-cell lymphoma Intestinal toxemia botulism Intestinal toxin-mediated botulism Intoxication botulism Intracranial arteriovenous malformation Intracranial endodermal sinus tumor Intracranial germinoma Intracranial yolk sac tumor Intractable diarrhea-choanal atresia-eye anomalies syndrome Intraductal papillary mucinous carcinoma of pancreas Intrahepatic bile duct cystadenocarcinoma Intrahepatic cholestasis of pregnancy Intralobar congenital bronchopulmonary sequestration Intralobar congenital pulmonary sequestration Intramural coronary arterial course Intraneural perineurioma Intraocular medulloepithelioma Intraosseous hemangioma Intrauterine adhesions Intrauterine growth restrictionshort stature-early adult-onset diabetes syndrome Intrauterine growth retardationmetaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome Intrauterine synechiae Intravascular large B-cell lymphoma Intravascular lymphomatosis Intrinsic factor deficiency iNTS disease Inv dup(15) Invasive candidiasis-deep dermatophytosis syndrome Invasive infections due to vancomycin-resistant enterococci

ORPHA Disease name number 90078 Invasive infections due to VRE 99925 Invasive mole 324648 324648 96092 79405 329324 98951 79409 79409 96092 2704 1451 499096 1186 275766 747 238455 37042 494428 88621 100025 397933 70592 772 209981 64734 →782 39044 209981 43115 86915 86915 209943 84142 84142 85200 85200 85200 1509 43115 79144 79159

Invasive non-typhoidal salmonella disease Invasive non-typhoidal salmonellosis Invdupdel(8p) Inverse JEB Inverse Klippel-Trénaunay syndrome Inverse Marcus-Gunn phenomenon Inverse RDEB Inverse recessive dystrophic epidermolysis bullosa Inverted 8p duplication/deletion syndrome Inverted smile-neurogenic bladder syndrome IOMID syndrome ION IOSCA IPAH iPAP IPD IPEX IPPFE IPS IPSID IQSEC2-related syndromic intellectual disability IRAK4 deficiency IRD IRIDA syndrome Iridocorneal endothelial syndrome Iris dysplasia-hypertelorismdeafness syndrome Iris melanoma Iron-refractory iron deficiency anemia Iron-sulfur cluster deficiency myopathy Irons-Bhan syndrome Irons-Bianchi syndrome IRVAN syndrome Isaac syndrome Isaac-Mertens syndrome Ischio-spinal dysostosis Ischio-vertebral dysplasia Ischio-vertebral syndrome Ischiopatellar dysplasia ISCU myopathy Iso-Kikuchi syndrome Isobutyric aciduria

ORPHA number 79159 3309 3310 884 884 3307 96055 98797 98798 99731 3306 263524 229717 440987 268868 263524 1048 140989 250923 91397 79143 557 3387 162516 268936 1134 1166 206599 206599 254913 30391 34528

199326

269221 30391 158778 35099 1398 269203

Disease name

Isobutyryl-CoA dehydrogenase deficiency Isochromosome 5p Isochromosome 9p Isochromosome 12p mosaicism Isochromosome 12p syndrome Isochromosome 18p Isochromosome 21 Isochromosomy Yp Isochromosomy Yq ISOD Isodicentric 15 chromosome Isolated acute necrotizing encephalopathy Isolated agammaglobulinemia Isolated agenesis of gallbladder Isolated amyelia Isolated ANE Isolated anencephaly/exencephaly Isolated angiitis of the central nervous system Isolated aniridia Isolated ankyloblepharon filiforme adnatum Isolated anonychia Isolated anorectal malformation Isolated anterior cervical hypertrichosis Isolated apertura pyriformis stenosis Isolated arhinencephaly Isolated arrhinia Isolated asymmetric crying facies Isolated asymptomatic elevation of creatine phosphokinase Isolated asymptomatic hyperCKemia Isolated ATP synthase deficiency Isolated atresia of bile ducts Isolated autosomal dominant hypomagnesemia Isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated bilateral hemispheric cerebellar hypoplasia Isolated Biliary atresia Isolated bone marrow mastocytosis Isolated brachycephaly Isolated cerebellar hypoplasia/agenesis Isolated cerebellar vermis agenesis



94

ORPHA number 199630 485426 199302 141242 2343 1460 141242 2609 1460 217059 289465 91416 180188 79143 88620 162526 180188 238722 217059 99171 295032 432 485426 141152 141214 91489 199642 238722 217059 162516 79144 295032 91490 141214 216718 216718 1460 254905

Disease name

Isolated cerebellar vermis hypoplasia Isolated CHF Isolated cleft lip Isolated cleft of the ala nasi Isolated cloverleaf skull syndrome Isolated coenzyme Q-cytochrome C reductase deficiency Isolated coloboma of the nose Isolated complex I deficiency Isolated complex III deficiency Isolated congenital acropachy Isolated congenital adermatoglyphia Isolated congenital alacrima Isolated congenital amastia Isolated congenital anonychia Isolated congenital anosmia Isolated congenital auditory ossicle malformation Isolated congenital breast hypoplasia/aplasia Isolated congenital controlateral synkinesia Isolated congenital digital clubbing Isolated congenital ectropion Isolated congenital elbow dislocation Isolated congenital gonadotropin deficiency Isolated congenital hepatic fibrosis Isolated congenital hypoglossia/aglossia Isolated congenital maxillomandibular fusion Isolated congenital megalocornea Isolated congenital microcephaly Isolated congenital mirror movements Isolated congenital nail clubbing Isolated congenital nasal pyriform aperture stenosis Isolated congenital onychodysplasia Isolated congenital radial head dislocation Isolated congenital sclerocornea Isolated congenital syngnathia Isolated congenitally uncorrected transposition of the great arteries Isolated congenitally uncorrected transposition of the great vessels Isolated CoQ-cytochrome C reductase deficiency Isolated COX deficiency

ORPHA Disease name number 91396 Isolated cryptophthalmia 254905 217 269212

269215 248340 248340 248340 248340 99177 35093 1885 199647 221106 65683 268994 268961 268973 268980 268987 268994 269001 269008 448264 52901 52901 468666 87884 408 231662 231671 231679 231692 2128

Isolated cytochrome C oxidase deficiency Isolated Dandy-Walker malformation Isolated Dandy-Walker malformation with hydrocephalus Isolated Dandy-Walker malformation without hydrocephalus Isolated delta-SPD Isolated delta-storage pool disease Isolated dense-SPD Isolated dense-storage pool disease Isolated distichiasis Isolated dolichocephaly Isolated ectopia lentis Isolated encephalocele Isolated facial myokymia Isolated focal cortical dysplasia Isolated focal cortical dysplasia type 2 Isolated focal cortical dysplasia type I Isolated focal cortical dysplasia type Ia Isolated focal cortical dysplasia type Ib Isolated focal cortical dysplasia type Ic Isolated focal cortical dysplasia type II Isolated focal cortical dysplasia type IIa Isolated focal cortical dysplasia type IIb Isolated focal non-epidermolytic palmoplantar keratoderma Isolated follicle stimulating hormone deficiency Isolated FSH deficiency Isolated generalized anhidrosis with normal sweat glands Isolated genetic deafness Isolated glycerol kinase deficiency Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type II Isolated growth hormone deficiency type III Isolated hemihyperplasia

ORPHA Disease name number 2128 Isolated hemihypertrophy 306527 229717 183675 2345 1084 268920 391474 268920 238593 95707 90641 2609 3208 1460 254905 254913 90641 2609 2609 2609 162516 447881 480556 1134 137902 499096 166119 63440 269209 96269 718 718 35098 2924 2456 216452

Isolated hereditary congenital facial paralysis Isolated hypogammaglobulinemia Isolated IgG subclass deficiency Isolated Klippel-Feil syndrome Isolated lissencephaly type 1 without known genetic defects Isolated macrencephaly Isolated median cleft face syndrome Isolated megalencephaly Isolated mesenteric lipodystrophy Isolated micropenis Isolated mitochondrial neurosensory deafness Isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex II deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated mitochondrial respiratory chain complex IV deficiency Isolated mitochondrial respiratory chain complex V deficiency Isolated mitochondrial sensorineural deafness Isolated NADH-coenzyme Q reductase deficiency Isolated NADH-CoQ reductase deficiency Isolated NADH-ubiquinone reductase deficiency Isolated nasal pyriform aperture hypoplasia Isolated neck extensor myopathy Isolated neonatal sclerosing cholangitis Isolated nose agenesis Isolated optic nerve hypoplasia Isolated optic neuritis Isolated osteopoikilosis Isolated oxycephaly Isolated partial cerebellar vermis agenesis Isolated partial vaginal agenesis Isolated Pierre Robin sequence Isolated Pierre Robin syndrome Isolated plagiocephaly Isolated polycystic liver disease Isolated polythelia Isolated postlingual genetic deafness



95

ORPHA number 216445 238670 238670 264691 34528 439 35093 178311 440713 440713 457083 178311 3208 3208 3208 99731 90674 238670 90674 238670 238670 269206 454750 103909 238670 238670 3366 90674 238670 1460 269218 860 96 472 2305 2305 2306 33

Disease name

Isolated prelingual genetic deafness Isolated prothyroliberin deficiency Isolated protirelin deficiency Isolated pulmonary capillaritis Isolated renal magnesium wasting Isolated right ventricular hypoplasia Isolated scaphocephaly Isolated SCCH Isolated sedoheptulokinase deficiency Isolated SHPK deficiency Isolated splenogonadal fusion Isolated sternocostoclavicular hyperostosis Isolated succinate-coenzyme Q reductase deficiency Isolated succinate-CoQ reductase deficiency Isolated succinate-ubiquinone reductase deficiency Isolated sulfite oxidase deficiency Isolated thyroid-stimulating hormone deficiency Isolated thyroliberin deficiency Isolated thyrotropin deficiency Isolated thyrotropin-releasing factor deficiency Isolated thyrotropin-releasing hormone deficiency Isolated total cerebellar vermis agenesis Isolated tracheo-esophageal fistula Isolated trehalose intolerance Isolated TRF deficiency Isolated TRH deficiency Isolated trigonocephaly Isolated TSH deficiency Isolated TSH-releasing factor deficiency Isolated ubiquinone-cytochrome C reductase deficiency Isolated unilateral hemispheric cerebellar hypoplasia Isolated ventriculoarterial discordance Isolated vitamin E deficiency Isosporiasis Isotretinoin embryopathy Isotretinoin syndrome Isotretinoin-like syndrome Isovaleric acid CoA dehydrogenase deficiency

ORPHA Disease name number 33 Isovaleric acidemia 309324 ISSD →33364 Itin syndrome 439254 ITM2B amyloidosis 439254 ITM2B-related amyloidosis 439254 435 3002 457375 279914 99123 294415 97548 2307 281190 3236 1540 2848 2308 1941 →636 93277 2269 1873 300605 73423 73423 1891 2590 168491 79139 2311 474 91412 313795 2315 397715 139431 79404 79405 79406 79402 251393 79403 1201 100077 100077 1201 89840 →52368 90647

ITM2B-related cerebral amyloid angiopathy Ito hypomelanosis ITP ITPA-related encephalopathy IU IVC interruption Ivemark II syndrome Ivemark syndrome IVIC syndrome IWC Jackson-Barr syndrome Jackson-Weiss syndrome Jacobs syndrome Jacobsen syndrome JAE Jaffe-Campanacci syndrome Jaffe-Lichtenstein disease Jagell-Holmgren-Hofer syndrome Jalili syndrome JALS Jamaican vomiting sickness Jamaican vomiting syndrome Jancar syndrome Jankovic-Rivera syndrome Jansky-Bielschowsky disease Japanese encephalitis Jarcho-Levin syndrome JATD Jaw-winking syndrome Jawad syndrome JBS JBTS with JATD Jeavons syndrome JEB-H JEB-I JEB-lo JEB-nH gen JEB-nH loc JEB-PA Jejunal atresia Jejunal neuroendocrine neoplasm Jejunal neuroendocrine tumor Jejunoileal atresia JEN-nH Jensen syndrome Jervell and Lange-Nielsen syndrome

ORPHA number 33314 33314 3283 474 474 248111 2929 65684 307 86834 324999 289596 79264 2314 2315 2316 85320 2316 1112 1485

324999

2295 2027 1256 475 475 1454 1454 397715 397715 220493 2318 2754 2754 220497 220493 2318

Disease name

Jessner lymphocytic infiltration of the skin Jessner-Kanof lymphocytic infiltration of the skin JET Jeune asphyxiating thoracic dystrophy Jeune syndrome JHD JIP JMADUE JME JMML JMP syndrome JNA JNCL Job syndrome Johanson-Blizzard syndrome Johnson neuroectodermal syndrome Johnson syndrome Johnson-McMillin syndrome Johnson-Munson syndrome Johnston-Aarons-Schelley syndrome Joint contractures-muscular atrophy-microcytic anemiapanniculitis-associated lipodystrophy syndrome Joint instability syndrome Jones syndrome Jorgenson-Lenz syndrome Joubert syndrome Joubert syndrome type A Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect Joubert syndrome with JATD Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with ocular defect Joubert syndrome with oculorenal defect Joubert syndrome with oral-facialdigital syndrome Joubert syndrome with orofaciodigital defect Joubert syndrome with renal defect Joubert syndrome with retinopathy Joubert syndrome with SeniorLoken syndrome



96

ORPHA Disease name number 475 Joubert-Boltshauser syndrome 2801 JPG 247604 JPLS 2929 JPS 2318 JS type B 1454

JS-H

220493 JS-O 2318 JS-OR 220497 JS-R 26137 2319 101039 93972 3283 79404 79402 79405 79402 79404 79404 89840 79403 2321 319223 989 1941 391497 300605 199260 391497 314918 247794 300605 86834 411634 93672 93672 228254 2929 98977 79256

JTA Juberg-Hayward syndrome Juberg-Hellman syndrome Juberg-Marsidi syndrome Junctional ectopic tachycardia Junctional epidermolysis bullosa generalisata gravis Junctional epidermolysis bullosa generalisata mitis Junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa, Disentis type Junctional epidermolysis bullosa, Herlitz type Junctional epidermolysis bullosa, Herlitz-Pearson type Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosapyloric atresia syndrome Jung-Wolff-Back-Stahl syndrome Junin hemorrhagic fever Jussieu syndrome Juvenile absence epilepsy Juvenile acquired myasthenia Juvenile amyotrophic lateral sclerosis Juvenile aponeurotic fibromatosis Juvenile autoimmune myasthenia gravis Juvenile Canavan disease Juvenile cataract-microcornearenal glucosuria syndrome Juvenile Charcot disease Juvenile chronic myelomonocytic leukemia Juvenile cystinosis Juvenile dermatomyositis Juvenile DM Juvenile elastoma without osteopoikilosis Juvenile gastrointestinal polyposis Juvenile glaucoma Juvenile GM1 gangliosidosis

ORPHA number 309162 79230 98954 248111 248111 2028 85435 2929 300605 65684 65684 391497 86834 307 307 289596 79264 93592 411634 79264 157719 85193 329894 2801 2801 247604 93568 93568 79076 2929 247604 85436 85408

247854

247861 93399 83419 585 26137 158000

Disease name

Juvenile GM2 gangliosidosis 0 variant Juvenile hemochromatosis Juvenile hereditary epithelial dystrophy of Meesmann Juvenile Huntington chorea Juvenile Huntington disease Juvenile hyaline fibromatosis Juvenile idiopathic rheumatoid factor-positive polyarthritis Juvenile intestinal polyposis Juvenile Lou Gehrig disease Juvenile muscular atrophy of distal upper extremity Juvenile muscular atrophy of the distal upper limb Juvenile myasthenia gravis Juvenile myelomonocytic leukemia Juvenile myoclonic epilepsy Juvenile myoclonus epilepsy Juvenile nasopharyngeal angiofibroma Juvenile NCL Juvenile nephronophthisis Juvenile nephropathic cystinosis Juvenile neuronal ceroid lipofuscinosis Juvenile or adult CACH syndrome Juvenile osteoporosis Juvenile overlap myositis Juvenile Paget disease Juvenile Paget's disease Juvenile PLS Juvenile PM Juvenile polymyositis Juvenile polyposis of infancy Juvenile polyposis syndrome Juvenile primary lateral sclerosis Juvenile psoriatic arthritis Juvenile rheumatoid factornegative polyarthritis Juvenile rheumatoid factornegative polyarthritis with antinuclear antibodies Juvenile rheumatoid factornegative polyarthritis without antinuclear antibodies Juvenile sialidosis type 2 Juvenile spinal muscular atrophy Juvenile sulfatidosis, Austin type Juvenile temporal arteritis Juvenile xanthogranuloma

ORPHA number

Disease name

Juvenile-onset diabetes mellitus445062 central and peripheral

neurodegeneration syndrome Juvenile-onset multiple 79241 carboxylase deficiency Juvenile-onset vitelliform macular 1243 dystrophy Juxtaposition of the atrial 99100 appendages 99100 Juxtaposition of the atrial auricles 1540 JWS 2322 Kabuki make-up syndrome 2322 Kabuki syndrome 85146 Kaeser syndrome 254519 Kagami-Ogata syndrome 29073 Kahler's disease →324737 Kahrizi syndrome 2324 Kaler-Garrity-Stern syndrome 2325 Kallin syndrome 478 Kallmann syndrome Kallmann syndrome-heart disease 2326 syndrome 99179 Kandori fleck retina 1836 Kantaputra mesomelic dysplasia 79280 Kanzaki disease 949 Kaplan-Plauchu-Fitch syndrome →3157 Kaplowitz-Bodurtha syndrome 33276 Kaposi sarcoma Kaposiform 2122 hemangioendothelioma 464329 Kaposiform lymphangiomatosis 183675 Kappa-chain deficiency 2328 Kapur-Toriello syndrome Karandikar-Maria-Kamble 1381 syndrome 2329 Karsch-Neugebauer syndrome →244 Kartagener syndrome 401996 Karyomegalic interstitial nephritis 2330 Kasabach-Merritt syndrome Kasznica-Carlson-Coppedge 1894 syndrome Katsantoni-Papadakou Lagoyanni 3360 syndrome 2473 Kaufman-Mckusick syndrome 2331 Kawasaki disease 2306 Kawashima syndrome 2533 Kawashima-Tsuji syndrome 2332 KBG syndrome 439218 KCNQ2-NEE KCNQ2-related epileptic 439218 encephalopathy KCNQ2-related neonatal epileptic 439218 encephalopathy 96169 KdVS 480 Kearns-Sayre syndrome



97

ORPHA Disease name number 199260 Keasby tumor 2662 Keipert syndrome 79233 Kelley-Seegmiller syndrome 137653 Kelly-Kirson-Wyatt syndrome 54028 Kelly-Paterson syndrome 481 64542 2333 2333 435628 477 447777 494 79395 34217 65282 420686

79395

79501 50943 495 218 2340 2339

281201

86919 678 79141 50942 50942 495 87503 50942

Kennedy disease Kennedy-Teebi syndrome Kenny syndrome Kenny-Caffey syndrome Keppen-Lubinsky syndrome Keratitis-ichthyosisdeafness/Hystrix-like ichthyosisdeafness syndrome Keratocystic odontogenic tumor Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis Keratoderma with woolly hair type I Keratoderma with woolly hair type II Keratoderma with woolly hair type IV Keratoderma-ichthyosiform dermatosis-elevated betaglucuronidase syndrome Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Keratolytic winter erythema Keratosis extremitatum hereditaria progrediens Keratosis follicularis Keratosis follicularis spinulosa decalvans Keratosis follicularis-dwarfismcerebral atrophy syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantarisclinodactyly syndrome Keratosis palmoplantarperiodontopathy syndrome Keratosis palmoplantaris nummularis Keratosis palmoplantaris striata Keratosis palmoplantaris striata et areata Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris transgrediens of Siemens Keratosis palmoplantaris varians of Wachters


50944

2198

2342 499 415286 3351 293807

438075

1399 2056 35 85202 2988 98841 477 477 97332 50918 50918 482 401996 2908 99741 565 565 1183 100996 98673 99978 261494 96147 96147 261652 96147 96147

Disease name

Keratosis palmoplantaris with arrythmogenic cardiomyopathy Keratosis palmoplantaris-corneal dystrophy syndrome Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome Keratosis palmoplantarisesophageal carcinoma syndrome Keratosis palmoplantarisperiodontopathia-onychogryposis syndrome Kerion celsi Kernicterus Kersey syndrome Ketamine-induced biliary dilatation Ketoacidosis due to monocarboxylate transporter-1 deficiency Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketohexokinase deficiency Ketotic hyperglycinemia Keutel syndrome Khalifa-Graham syndrome Ki-1 positive anaplastic large cell lymphoma KID syndrome KID/HID syndrome Kienbock disease Kikuchi disease Kikuchi-Fujimoto disease Kimura disease KIN Kindler syndrome King-Denborough syndrome Kinky hair disease Kinky hair syndrome Kinsbourne syndrome Kjellin syndrome Kjer optic atrophy Klatskin tumor Kleefstra syndrome Kleefstra syndrome due to 9q subtelomeric deletion Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to a point mutation Kleefstra syndrome due to del(9)(q34) Kleefstra syndrome due to monosomy 9q34

ORPHA Disease name number 896 Klein-Waardenburg syndrome 33543 Kleine-Levin syndrome 2110 399081 281201 447974 2345 2345 90308 2346 157823 485 1571 1571

2698

2698

2349 679 679 1946 3197 99077 3130 2764 →1215 96169 363965 2892 254519 477831 2839 99749 1129 99741 2351 629 2352 3082 2204 487 206436

Kleiner-Holmes syndrome KLHL9-related early-onset distal myopathy KLICK syndrome Klippel-Feil anomaly-myopathyfacial dysmorphism syndrome Klippel-Feil malformation Klippel-Feil sequence Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klüver-Bucy syndrome Kniest dysplasia Knobloch syndrome Knobloch-Layer syndrome Knuckle pads-leukonychiasensorineural deafnesspalmoplantar hyperkeratosis syndrome Knuckle pads-leukonychiasensorineural deafnesspalmoplantar keratoderma syndrome Kocher-Debré-Semelaigne syndrome Köhlmeier-Degos disease Köhlmeier-Degos-Delort-Tricort syndrome Kohlschutter-Tonz syndrome Kok disease Kommerell diverticulum Komuragaeri disease König disease Konigsmark-Knox-Hussels syndrome Koolen-De Vries syndrome Koolen-De Vries syndrome due to a point mutation Kopysc-Barczyk-Krol syndrome KOS Kosaki overgrowth syndrome Kosenow syndrome Kostmann syndrome Kosztolanyi syndrome Koussef-Nichols syndrome Kousseff syndrome Kowarski syndrome Kozlowski-Brown-Hardwick syndrome Kozlowski-Krajewska syndrome Kozlowski-Tsuruta syndrome Krabbe disease Krabbe disease, classic form



98

ORPHA Disease name number 206436 Krabbe disease, early-onset 206443 Krabbe disease, late-onset 1345 Krasnow-Qazi syndrome 709 709 284149 89838 2908 293936 447777 306674 79262 83419 →1487 2505 →794 454745 1149 767 449432 2798 34217 65282 420686 319254 319254 79155 1801 496689

496689

496686 275543 275543 79314 79314 79314 35704 157973 156 156 440731 93599 216694 83483 53696

Krause-Kivlin syndrome Krause-van Schooneveld-Kivlin syndrome Kreiborg-Pakistani syndrome KRT14-related epidermolysis bullosa simplex KS KTCNCT KTOC Kufor-Rakeb syndrome Kufs disease Kugelberg-Welander disease Kumar-Levick syndrome Kunze-Riehm syndrome Kurczynski-Casperson syndrome Kuru Kuskokwim disease Küssmaul-Maier disease Küttner tumor Kuzniecky syndrome KWWH type I KWWH type II KWWH type IV Kyasanur forest disease Kyasanur hemorrhagic fever Kynureninase deficiency Kyphomelic dysplasia Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Kyphoscoliosis-lateral tongue atrophy-HSP syndrome Kyphoscoliosis-lateral tongue atrophy-myofibrillar myopathy syndrome L1 syndrome L1CAM syndrome L-2-HGA L-2-hydroxyglutaric acidemia L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency L-CMD L-CPT1 deficiency L-CPTI deficiency L-ferritin deficiency L-glyceric aciduria L-transposition of the great arteries La Crosse encephalitis LAAHD

ORPHA Disease name number 3473 Laband syndrome 2363 2363 284426 284435 2965 2968 99844 99842 99843 99844 2363 1484 158687 501 1997 59135 275761 538 306507 1296 43393 313 90024 98818 354 269 231031 2632 502 86897 2368 →1159 2363 98838 626 633 220465 220465 633 2370 284139

Lacrimoauriculodentodigital syndrome Lacrimoauriculoradiodental syndrome Lactate dehydrogenase A deficiency Lactate dehydrogenase B deficiency Lactotroph adenoma LAD LAD-1 variant LAD-I LAD-II LAD-III LADD syndrome Ladda-Zonana-Ramer syndrome LAEB Lafora disease Lagophthalmia-cleft lip and palate syndrome Laing early-onset distal myopathy LAL deficiency LAM LAMB2-related infantile-onset nephrotic syndrome Lambert syndrome Lambert-Eaton myasthenic syndrome Lamellar ichthyosis LAMM syndrome Landau-Kleffner syndrome Landing disease Landouzy-Dejerine myopathy Lane disease Langer mesomelic dysplasia Langer-Giedion syndrome Langerhans cell sarcoma Laparoschisis Laplane-Fontaine-Lagardere syndrome LARD syndrome Large cell lymphoma of the mediastinum Large congenital melanocytic nevus Laron syndrome Laron syndrome with immunodeficiency Laron-like syndrome Laron-type dwarfism Larsen-like osseous dysplasiashort stature syndrome Larsen-like syndrome, B3GAT3 type

ORPHA Disease name number 2808 Laryngeal abductor paralysis 2375

2407 100083 2407 2004 280205 93938 93939 93940 93941 2004 2372 137935 2004 280205 93938 93939 93940 93941 1202 99824 99824 98974 157716 168491 168491 79256 206443 98816 247573 247573 399058 98912 228227

Laryngeal abductor paralysisintellectual disability syndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Laryngeal neuroendocrine tumor Laryngo-onycho-cutaneous syndrome Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-esophageal cleft type 1 Laryngo-tracheo-esophageal cleft type 2 Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-esophageal cleft type 4 Laryngo-tracheo-esophageal diastema Laryngocele Laryngotracheal angioma Laryngotracheoesophageal cleft Laryngotracheoesophageal cleft type 0 Laryngotracheoesophageal cleft type 1 Laryngotracheoesophageal cleft type 2 Laryngotracheoesophageal cleft type 3 Laryngotracheoesophageal cleft type 4 Larynx atresia Lassa fever Lassa hemorrhagic fever Late hereditary endothelial dystrophy Late infantile CACH syndrome Late infantile NCL Late infantile neuronal ceroid lipofuscinosis Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late-onset benign childhood occipital epilepsy Late-onset citrullinemia type 1 Late-onset citrullinemia type I Late-onset distal crystallinopathy Late-onset distal myopathy, Markesbery-Griggs type Late-onset focal dermal elastosis



99

ORPHA Disease name number 163708 Late-onset infantile spasms 199299 79406

231556

79241 93589 90186 67042 2789 141136 46059 98964 98964 99094 2398 2377 2378 79086 79086 2379 137898 2369 2004 99900 650 1486 137776 137783 363409 98964 93558 98964 5 5 52416 626 363618 65285 2364 284435 284426 2616 330015 330015 3246 65 104 190 104

Late-onset isolated ACTH deficiency Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset multiple carboxylase deficiency Late-onset nephronophthisis Late-onset primary lymphedema Late-onset retinal degeneration Lateral meningocele syndrome Laterofacial microsomia Lathosterolosis Lattice corneal dystrophy type 1 Lattice corneal dystrophy type I Laubry-Pezzi syndrome Launois-Bensaude lipomatosis Laurence-Moon syndrome Laurin-Sandrow syndrome Lawrence syndrome Lawrence-Seip syndrome Laxova-Opitz syndrome LBSL LBWC syndrome LC LCAD LCAT deficiency LCCS1 LCCS2 LCCS3 LCCS5 LCD1 LCDD LCDI LCHAD deficiency LCHADD LCM LCMN LCPS LDD LDH deficiency LDH-H subunit deficiency LDH-M subunit deficiency Le Merrer syndrome Lead intoxication Lead poisoning Learman syndrome Leber congenital amaurosis Leber hereditary optic neuropathy Leber miliary aneurysm Leber optic atrophy

ORPHA Disease name number 99718 Leber plus disease 98955 LECD 650 199251 71273 99111 99111 99111 54260 54260 99095 1757 2380 549 549 137605 2789 1647 255241 70474 255249

3008

3008 3008 70474 255241 255249 70472 70472

485421 314 71274 64720 104076

Lecithin-cholesterol acyltransferase deficiency Ledderhose disease Left renal vein entrapment syndrome Left superior caval vein persisting to left-sided atrium Left superior vena cava persisting to left-sided atrium Left SVC persisting to left-sided atrium Left ventricular hypertrabeculation Left ventricular noncompaction Left ventricular-to-right atrial communication Leg duplication-mirror foot syndrome Legg-Calvé-Perthes disease Legionellosis Legionnaires disease Legius syndrome Lehman syndrome Leichtman-Wood-Rohn syndrome Leigh disease with leukodystrophy Leigh disease with myopathy Leigh disease with nephrotic syndrome Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency Leigh syndrome due to PC deficiency Leigh syndrome due to pyruvate carboxylase deficiency Leigh syndrome with cardiomyopathy Leigh syndrome with leukodystrophy Leigh syndrome with nephrotic syndrome Leigh syndrome, French-Canadian type Leigh syndrome, Saguenay-LacSaint-Jean type Leigh-like basal ganglia diseaseoptic atrophy-peripheral neuropathy syndrome Leiner disease Leiomyomatosis peritonealis disseminate Leiomyosarcoma Leiomyosarcoma of small intestine

ORPHA number 213807 213625 507 140936 137839 137839 497906 2382 209959 209959 209959 568 2658 500 330032 508 548 252031 268838 509 2900 240 240 510 158687 314718 53696 1187 1420 1421 1486 137776 137783 363409

330050 1972 444069

Disease name

Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Leishmaniasis Lelis syndrome Lemierre postanginal sepsis Lemierre syndrome Lenk-Ploski syndrome Lennox-Gastaut syndrome Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Lenz microphthalmia Lenz-Majewski hyperostotic dwarfism LEOPARD syndrome Lepore-beta-thalassemia syndrome Leprechaunism Leprosy Leptomeningeal melanomatosis Leptomyelolipoma Leptospirosis Leri pleonosteosis Léri-Weill dyschondrosteosis Léri-Weill syndrome Lesch-Nyhan syndrome Lethal acantholytic epidermolysis bullosa Lethal arteriopathy syndrome due to fibulin-4 deficiency Lethal arthrogryposis-anterior horn cell disease syndrome Lethal ataxia with deafness and optic atrophy Lethal chondrodysplasia, Moerman type Lethal chondrodysplasia, Seller type Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal congenital contracture syndrome type 5 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect Lethal faciocardiomelic dysplasia Lethal fetal brain malformationduodenal atresia-bilateral renal hypoplasia syndrome



100

ORPHA number

Disease name

Lethal fetal 439897 cerebrorenogenitourinary 1046 480528

1237 35064 254857 254857 2347 2371

478049

86879 33108 435845 435845 300313 293925 2736 216804 1832 210144 1234 1423 1662 →56304

464366

79022 99870 58017 300878 2968

agenesis/hypoplasia syndrome Lethal hemolytic anemia-genital anomalies syndrome Lethal hydranencephalydiaphragmatic hernia syndrome Lethal hydrocephalus-cardiac malformation-dense bones syndrome Lethal idiopathic viral infection Lethal infantile mitochondrial disease Lethal infantile mitochondrial myopathy Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal left ventricular noncompaction-seizures-hypotoniacataract-developmental delay syndrome Lethal midline granuloma Lethal multiple pterygium syndrome Lethal neonatal rigidity-multifocal seizure syndrome Lethal neonatal spasticity-epileptic encephalopathy syndrome Lethal neurodegenerative disorder due to copper transport defect Lethal occipital encephaloceleskeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteogenesis imperfecta Lethal osteosclerotic bone dysplasia Lethal polymalformative syndrome, Boissel type Lethal popliteal pterygium syndrome Lethal recessive chondrodysplasia Lethal restrictive dermopathy Lethal short-limb dwarfism, McAlister-Crane type Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Lethal variant of Simpson-GolabiBehmel syndrome Letterer-Siwe disease Leukemic reticuloendotheliosis Leukemic reticuloendotheliosis variant Leukocyte adhesion deficiency

ORPHA number 99842 99843 99844 99844 439224 77295 139444

137898

137898

363540

135

137639

163684

83629

2386

314051

1816 2387 210133

2045 79507 2743 2388 216694 95854 95854

Disease name

Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency-1 variant Leukocyte chemotactic factor-2 amyloidosis Leukodystrophy with oligodontia Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvementhigh lactate syndrome Leukoencephalopathy with brain stem and spinal cord involvementlactate elevation syndrome Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with vanishing white matter Leukoencephalopathy-ataxiahypodontia-hypomyelination syndrome Leukoencephalopathy-dystoniamotor neuropathy syndrome Leukoencephalopathymetaphyseal chondrodysplasia syndrome Leukoencephalopathypalmoplantar keratoderma syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukomelanoderma-infantilismintellectual disability-hypodontiahypotrichosis syndrome Leukonychia totalis Leukonychia totalis-acanthosisnigricans-like lesions-abnormal hair syndrome Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome Leukotriene C4 synthase deficiency Levic-Stefanovic-Nikolic syndrome Levine-Critchley syndrome Levo-transposition of the great arteries Levocardia Levocardia-situs inversus

ORPHA Disease name number 2363 Levy-Hollister syndrome 302 Lewandowsky-Lutz syndrome →1896 Lewis-Pashayan syndrome 48162 Lewis-Sumner syndrome 755 Leydig cell hypoplasia 96265 96265

96265

96265

325448

325448

96266 96266

96266

96266 99824 844 266 264 265 34516 34517 55595 55596 238755 267 268 353 62 119 219 34514 1878 34515 140922 86812 206549 206554 206559 206564

Leydig cell hypoplasia due to complete LH receptor inactivation Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to partial LH receptor inactivation Leydig cell hypoplasia due to partial LH resistance Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance LF LGL syndrome LGMD1A LGMD1B LGMD1C LGMD1D LGMD1E LGMD1F LGMD1G LGMD1H LGMD2A LGMD2B LGMD2C LGMD2D LGMD2E LGMD2F LGMD2G LGMD2H LGMD2I LGMD2J LGMD2K LGMD2L LGMD2M LGMD2N LGMD2O



101

ORPHA Disease name number 280333 LGMD2P 254361 LGMD2Q 363543 LGMD2R 369840 LGMD2S 363623 LGMD2T 352479 LGMD2U 466801 LGMD2W 476084 LGMD2X 424261 LGMD2Y 480682 LGMD2Z 445110 LGMD due to POMK deficiency 93557 LHCDD 65285 104 99718 313 524 49804 49804 525 525 254395 525 254478 254463 254463 254463 254395 254395 254395 2390 448251 526 1275 99812 99812 93557 93558 85443 97231 2369 2492 974 62

119 267

Lhermitte-Duclos disease LHON LHON plus disease LI Li-Fraumeni syndrome Lichen amyloidosis Lichen amyloidosus Lichen follicularis Lichen planopilaris Lichen planus actinus Lichen planus follicularis Lichen planus pemphigoides Lichen planus pigmentosa Lichen planus pigmentosus Lichen planus pigmentosus inversus Lichen planus subtropicus Lichen planus tropicus Lichenoid melanodermatitis Lichtenstein syndrome Lichtenstein-Knorr syndrome Liddle syndrome Liebenberg syndrome LIG4 syndrome Ligase 4 syndrome Light and heavy chain deposition disease Light chain deposition disease Light-chain amyloidosis Ligneous conjunctivitis Limb body wall complex Limb transversal defect-cardiac anomaly syndrome Limb, scalp and skull defects Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to calpain deficiency

ORPHA number 265 219 268 34515

353

264 266 445110 34514 1878 257 52430 86812 69085 171673 276402 329341 329341 329341

163908

163908 217253 163914 498700 217253 163914

83467 254857

Disease name

Limb-girdle muscular dystrophy due to caveolin-3 deficiency Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy due to FKRP deficiency Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy due to lamin A/C deficiency Limb-girdle muscular dystrophy due to myotilin deficiency Limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to telethonin deficiency Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy with epidermolysis bullosa simplex Limb-girdle muscular dystrophy with Paget disease of bone Limb-girdle muscular dystrophyintellectual disability syndrome Limb-mammary syndrome Limbal stem cell deficiency Limbic encephalitis with caspr2 antibodies Limbic encephalitis with dipeptidyl-peptidase 6 antibodies Limbic encephalitis with DPP6 antibodies Limbic encephalitis with DPPX antibodies Limbic encephalitis with leucinerich glioma-inactivated 1 antibodies Limbic encephalitis with LGI1 antibodies Limbic encephalitis with N-methylD-aspartate receptor antibodies Limbic encephalitis with nCMAgs antibodies Limbic encephalitis with neurexin3 antibodies Limbic encephalitis with NMDA receptor antibodies Limbic encephalitis with novel cell membrane antigen antibodies Limbic encephalitisneuromyotonia-hyperhidrosispolyneuropathy syndrome LIMD

ORPHA Disease name number 366 Limit dextrinosis 220402 220402 220407 254857 168491 892 3077 79150 140933 228236 228236 2611 46488 254379 254379 2612 2611 36273 888 435660 435660 77243 255182 90160 528

156156

247762 90156 1979 50811 3163 401859 139436 530 36397 238593 812 268835 329481 69078 238593 401862

Limited cutaneous systemic scleroderma Limited cutaneous systemic sclerosis Limited systemic sclerosis LIMM LINCL Lindau disease Lindsay-Burn syndrome Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear focal elastosis Linear hamartoma syndrome Linear IgA dermatosis Linear lichen planus Linear LP Linear nevus sebaceus syndrome Linear verrucous nevus syndrome Linitis plastica of the stomach Lip-pit syndrome LIPE-related familial partial lipodystrophy LIPE-related FPLD Lipedema Lipoamide dehydrogenase deficiency Lipoatrophia semicircularis Lipoatrophic diabetes Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Lipoblastoma Lipodystrophia centrifugalis abdominalis infantilis Lipodystrophy due to peptidic growth factors deficiency Lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-Rieger anomalydiabetes syndrome Lipoic acid synthetase deficiency Lipoid dermatoarthritis Lipoid proteinosis Lipomatosis dolorosa Lipomatous mesenteritis Lipomucopolysaccharidosis Lipomyelomeningocele Lipoprotein glomerulopathy Liposarcoma Liposclerotic mesenteritis Lipoyl transferase 1 deficiency



102

ORPHA Disease name number 447795 Lipoyl transferase 2 deficiency 98955 Lisch epithelial corneal dystrophy 2400

Lisker-Garcia-Ramos syndrome

101003 Lison syndrome 531 95232 171680 89844 2148 352682 352682 86821 86822 100011 100012 100013 100014 100015 100016 533 533 820 820

79095

369 98818 363618 157973 33108 69085 93924 666 2440

Lissencephaly due to 17p13.3 deletion Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly syndrome, NormanRoberts type Lissencephaly type 1 due to doublecortin gene mutation Lissencephaly type 2 without muscular or eye involvement Lissencephaly type 2 without muscular or ocular involvement Lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-metacarpal bone dysplasia syndrome Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type F Listeria infection Listeriosis Livedo racemosa-cerebrovascular accident syndrome Livedo reticularis-cerebrovascular accident syndrome Liver disease-retinitis pigmentosapolyneuropathy-epilepsy syndrome Liver glycogen phosphorylase deficiency LKS LMNA-related cardiocutaneous progeria syndrome LMNA-related congenital muscular dystrophy LMPS LMS Lobar holoprosencephaly Lobstein disease Lobster-claw deformity

ORPHA Disease name number 2407 LOC syndrome 314709 Localized AL amyloidosis 93685

Localized Castleman disease

263534 Localized deciduous skin 79400 90289 251393

90398

90399 178517 263534 163927 90289 2406 75566 724 60030 724 2407 250831 250831 250831 2404 5 99900 3363 90647 37553 65283 65283

5 180157 52054 168 411602 2832 2266 67042 79395 803 100

Localized epidermolysis bullosa simplex Localized fibrosing scleroderma Localized junctional epidermolysis bullosa, non-Herlitz type Localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized pagetoid reticulosis Localized PSS Localized pustular psoriasis Localized scleroderma Locked-in syndrome Loeffler endocarditis Loeffler syndrome Loeys-Dietz syndrome Loffler syndrome LOGIC syndrome Logopenic primary progressive aphasia Logopenic progressive aphasia Logopenic variant PPA Loiasis Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain acyl-CoA dehydrogenase deficiency Long eyelashes-intellectual disability syndrome Long QT interval-deafness syndrome Long QT syndrome type 7 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome Long-chain 3-hydroxyacylcoenzyme A dehydrogenase deficiency Longitudinal vaginal septum Longman-Tolmie syndrome Loose anagen syndrome LOPD Lopes-Gorlin syndrome Lopes-Marques de Faria syndrome LORD Loricrin keratoderma Lou Gehrig disease Louis-Bar syndrome

ORPHA Disease name number 171215 Low anorectal malformation 251633 Low grade ependymoma 69663 140949 213736 213736

1652 534 534 534 2408

83628

363447

363454

209341

2487 295051 141064 276435 844 1533 2409 1824 2003 254478 254463 254463 250831 69663 71274 329481 470 309015 163927 525

Low phospholipid associated cholelithiasis Low-flow priapism Low-grade neuroendocrine tumor of the corpus uteri Low-grade neuroendocrine tumor of the uterine corpus Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Lowe disease Lowe oculo-cerebro-renal syndrome Lowe syndrome Lowe-Kohn-Cohen syndrome Lower body hemangiomaurogenital anomalies-myelopathybony deformities-anorectal and arterial malformations-renal anomalies syndrome Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures Lower limb deficiencyhypospadias syndrome Lower limb hypertrophy Lower lip fistula Lower motor neuron syndrome with late-adult onset Lown-Ganong-Levine syndrome Lowry syndrome Lowry-MacLean syndrome Lowry-Wood syndrome Lowry-Yong syndrome LP pemphigoides LP pigmentosa LP pigmentosus LPA LPAC LPD LPG LPI LPL deficiency LPP LPP



103

ORPHA number 37553 LQT7 65283 LQT8

Disease name

498481 LRP5-related primary osteoporosis 314051 LTBL 79507 LTC4 synthase deficiency 2004

LTEC

280205 LTEC0 93938 LTEC1 93939 LTEC2 93940 93941 93938 93939 93940 93941 53351 53351 2575 2410 →1762 2312 776 776 319213 83628 268388 268758 97332 2928 1120

137631 90285 90285 90283 498251 498251 1173 302 →2697 54260 79150 537 86869 91546 91546 538 2035

LTEC3 LTEC4 LTEC I LTEC II LTEC III LTEC IV Lubag Lubag syndrome Lubani-Al Saleh-Teebi syndrome Lubinsky syndrome Lubs-Arena syndrome Lucey-Driscoll syndrome Lujan syndrome Lujan-Fryns syndrome Lujo hemorrhagic fever LUMBAR syndrome Lumbosacral spina bifida aperta Lumbosacral spina bifida cystica Lunatomalacia Lundberg syndrome Lung agenesis-heart defect-thumb anomalies syndrome Lung fibrosis-immunodeficiency46,XX gonadal dysgenesis syndrome Lupus erythematosus panniculitis Lupus erythematosus profundus Lupus erythematosus tumidus Luteal-phase-dependent febrile episode Luteal-phase-dependent periodic fever Luteinizing hormone-releasing hormone deficiency with ataxia Lutz-Lewandowsky epidermodysplasia verruciformis Lutz-Richner-Landolt syndrome LVNC LWNH Lyell syndrome LYG Lyme borreliosis Lyme disease Lymphangioleiomyomatosis Lymphatic filariasis

ORPHA Disease name number →289825 Lymphedema praecox →289825 Lymphedema tarda 662 Lymphedema with yellow nails 86915 86914 33001 1563 2136 99141 →33001 158793 86870 314970 79128 314970 289682 86886 314970 79128 86869 98842 329998 443159

443159

280302 144 1123 3196 98842 2203 470 275761 35121 61 309288 309282

Lymphedema-atrial septal defectsfacial changes syndrome Lymphedema-cerebral arteriovenous anomaly syndrome Lymphedema-distichiasis syndrome Lymphedema-hypoparathyroidism syndrome syndrome Lymphedema-lymphangiectasiaintellectual disability syndrome Lymphedema-posterior choanal atresia syndrome Lymphedema-ptosis syndrome Lymphoadenopathic mastocytosis with eosinophilia Lymphoblastoid variant of NK-cell lymphoma Lymphocytic hypereosinophilic syndrome Lymphocytic interstitial pneumonia Lymphocytic variant HES Lymphoepithelial-like carcinoma Lymphogranulomatosis X Lymphoid HES Lymphoid interstitial pneumonia Lymphomatoid granulomatosis Lymphomatoid papulosis Lymphomatous meningitis Lymphoplasmacytic lymphoma without IgM production Lymphoplasmacytic lymphoma without Immunoglobulin M production Lymphoplasmacytic sclerosing pancreatitis Lynch syndrome Lynch-Lee-Murday syndrome Lyngstadaas syndrome LyP Lysine alpha-ketoglutarate reductase deficiency Lysinuric protein intolerance Lysosomal acid lipase deficiency Lysosomal acid phosphatase deficiency Lysosomal alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomal alpha-D-mannosidase deficiency, infantile form

ORPHA number

Disease name

Lysosomal glycogen storage 34587 disease with normal acid maltase 79284 93561 90020 330041 247262 98938 36412 36412 2220 2083 98757 98757 276238 276241 276244 319229 79495 1574 468672 357158

137893 217335 60040

60040

397612 210548

466791

457485

2563

2427 2429 79489

activity Lysosomal membrane cobalamin transporter deficiency Lysozyme amyloidosis Lytico-Bodig disease M hemoglobinopathy Mabry syndrome MAC Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome MacDermot-Patton-Williams syndrome MacDermot-Winter syndrome Machado disease Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Machupo hemorrhagic fever Macias Flores-Garcia Cruz-Rivera syndrome Mackay-Shek-Carr syndrome MACOM syndrome Macroblepharon-ectropionhypertelorism-macrostomia syndrome Macrocephalic sperm head syndrome Macrocephaly-alopecia-cutis laxascoliosis syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-autism syndrome Macrocephaly-intellectual disability-left ventricular non compaction syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-obesity-mental disability-ocular abnormalities syndrome Macrocephaly-short statureparaplegia syndrome Macrocephaly-spastic paraplegiadysmorphism syndrome Macrocystic lymphangioma



104

ORPHA number

Disease name

Macrocystic lymphatic malformation 295044 Macrodactyly of fingers 295241 Macrodactyly of fingers, bilateral 295239 Macrodactyly of fingers, unilateral 295047 Macrodactyly of foot 295245 Macrodactyly of foot, bilateral 295243 Macrodactyly of foot, unilateral 295044 Macrodactyly of hand 295241 Macrodactyly of hand, bilateral 295239 Macrodactyly of hand, unilateral 295047 Macrodactyly of toes 295245 Macrodactyly of toes, bilateral 295243 Macrodactyly of toes, unilateral 2477 Macroencephaly 158061 Macrophage activation syndrome 592 Macrophagic myofasciitis Macrosomia-microphthalmia-cleft 2432 palate syndrome Macrosomia-obesity2563 macrocephaly-ocular abnormalities syndrome 141276 Macrostomia Macrostomia-preauricular tags83619 external ophthalmoplegia syndrome Macrothrombocytopenia with →182050 leukocyte inclusions Macrothrombocytopenia with 220448 mitral valve insufficiency Macrothrombocytopenialymphedema-developmental 487796 delay-facial dysmorphismcamptodactyly syndrome 217335 MACS syndrome 137814 Macular amyloidosis Macular coloboma-cleft palate91494 hallux valgus syndrome 98969 Macular corneal dystrophy Maculopapular cutaneous 79457 mastocytosis 2457 MAD 26791 MAD deficiency 394532 MAD deficiency, mild type MAD deficiency, severe neonatal 394529 type 26791 MADD 394532 MADD, mild type 394529 MADD, severe neonatal type 35688 Madelung deformity 295223 Madelung deformity, bilateral 295221 Madelung deformity, unilateral 2398 Madelung disease 137867 Madras motor neuron disease 48162 MADSAM 79489

ORPHA Disease name number 2583 Madura foot 1942 MAE 199354 Maeda syndrome 163634 Maffucci syndrome 324972 MAGIC syndrome 438274 Mahvash disease 77297 Majeed syndrome

Majewski osteodysplastic primordial dwarfism type II Major histocompatibility complex 572 class II expression deficiency 70470 Major hyperlipidemia 210272 Mal de débarquement 87503 Mal de Meleda 556 Malakoplakia 420179 Malan overgrowth syndrome 673 Malaria 75376 Malattia leventinese Male EBP disorder with 401973 neurological defects Male hypergonadotropic hypogonadism-intellectual 2234 disability-skeletal anomalies syndrome Male infertility due to 171709 globozoospermia Male infertility due to large137893 headed multiflagellar polyploid spermatozoa Male infertility due to 137893 macrozoospermia Male infertility due to NANOS1 →399808 mutation Male infertility due to round171709 headed spermatozoa Male infertility with azoospermia 399805 or oligozoospermia due to single gene mutation Male infertility with normal →399805 virilization due to maturation arrest Male infertility with normal →399805 virilization due to meiosis defect Male infertility with 399808 teratozoospermia due to single gene mutation Male pseudohermaphroditism due 753 to 5-alpha-reductase 2 deficiency Male pseudohermaphroditism due 752 to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Male pseudohermaphroditism due 755 to LH resistance or LHB deficiency 2637

ORPHA number

755

1646 3000 99915 289385 98839 679 100093 99912 276145 213837 213751 206489 423 2215 168999 293181 293181 213610 213512 213787 3148 3148 206538 99912 3286 252128 3148

252128

Disease name

Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency Male sterility due to chromosome Y deletion Male-limited precocious puberty Maligant granulosa cell tumor of the ovary Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant carcinoid syndrome Malignant dysgerminomatous germ cell tumor of the ovary Malignant epithelial tumor of the salivary glands Malignant germ cell tumor of the cervix uteri Malignant germ cell tumor of the corpus uteri Malignant germ cell tumor of the vagina Malignant hyperthermia of anesthesia Malignant hyperthermiaarthrogryposis-torticollis syndrome Malignant melanoma of the mucosa Malignant migrating partial epilepsy of infancy Malignant migrating partial seizures of infancy Malignant mixed Müllerian tumor of the corpus uteri Malignant mixed Müllerian tumor of the ovary Malignant Müllerian mixed tumor of the cervix uteri Malignant neurilemmoma Malignant neurofibroma Malignant non-dysgerminomatous germ cell tumor of ovary Malignant ovarian dysgerminoma Malignant paroxysmal ventricular tachycardia Malignant perineurioma Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with perineurial differentiation



105

ORPHA number

Disease name

Malignant peripheral nerve sheath tumor with 252212 rhabdomyosarcomatous differenciation Malignant peripheral 213812 neuroectodermal tumor of the cervix uteri Malignant peripheral 213630 neuroectodermal tumor of the corpus uteri Malignant peritoneal 168811 mesothelioma 499182 Malignant pilomatricoma 69077 Malignant rhabdoid tumor 3148 Malignant schwannoma Malignant Sertoli-Leydig cell 99916 tumor of the ovary 398987 Malignant teratoma of ovary 99868 Malignant thymoma 252212 Malignant triton tumor 180242 Malignant tubal tumor Malignant tumor of fallopian 180242 tubes 943 Malonic aciduria Malonyl-CoA decarboxylase 943 deficiency 2229 Malouf syndrome Malposition of the coronary 99090 ostium →293843 Malpuech facial clefting syndrome →293843 Malpuech syndrome Malpuech-Michels-Mingarelli293843 Carnevale syndrome 52417 MALT lymphoma 103907 Maltase-glucoamylase deficiency 52417 MALToma 180275 Mammary Paget disease 50920 Mammary polyadenomatosis 238744 Mammary-digital-nail syndrome 397941 MAN1B1-CDG Man5GlcNAc2-PP-Dol flippase 244310 deficiency Mandibular arteriovenous 141174 malformation Mandibular hypoplasia-deafness363649 progeroid syndrome Mandibular hypoplasia-hearing 363649 loss-progeroid syndrome Mandibulfacial dysostosis with 246 postaxial limb anomalies Mandibulo-palpebral synkinesis91412 ptosis syndrome 2457 Mandibuloacral dysplasia Mandibuloacral dysplasia with 90153 type A lipodystrophy

ORPHA number 90154 443995 245 861 79113 1131

357158

79113 306682 306682 306682 2717 79327 79326 79321 79328 79324 2459 2459 52416 52416 98956 511 →2712 2785 228157 99826 99826 500135 221074 447 91412 91412 2461 2460 1120 558 284963 284973 2462

2463

Disease name

Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with preaxial limb anomalies Mandibulofacial dysostosis without limb anomalies Mandibulofacial dysostosis, Guion-Almeida type Mandibulofacial dysostosis, Toriello type Mandibulofacial dysostosismacroblepharon-macrostomia syndrome Mandibulofacial dysostosismicrocephaly syndrome Manganese intoxication Manganese poisoning Manganism Manitoba oculotrichoanal syndrome Mannosyltransferase 1 deficiency Mannosyltransferase 2 deficiency Mannosyltransferase 6 deficiency Mannosyltransferase 7-9 deficiency Mannosyltransferase 8 deficiency Mansonelliasis Mansonellosis Mantle cell lymphoma Mantle zone lymphoma Map-dot-fingerprint dystrophy Maple syrup urine disease Marashi-Gorlin syndrome Marble brain disease Marburg acute multiple sclerosis Marburg hemorrhagic fever Marburg virus disease MARCH syndrome Marchiafava-Bignami disease Marchiafava-Micheli disease Marcus-Gunn phenomenon Marcus-Gunn syndrome Marden-Walker syndrome Marden-Walker-like syndrome Mardini-Nyhan syndrome Marfan syndrome Marfan syndrome type 1 Marfan syndrome type 2 Marfanoid craniosynostosis syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA number

Disease name

Marfanoid habituscraniosynostosis syndrome Marfanoid habitus-inguinal 314041 hernia-advanced bone age syndrome Marfanoid syndrome, De Silva 2464 type Margarita island ectodermal →3253 dysplasia Marie Unna congenital 444 hypotrichosis Marie Unna hereditary 444 hypotrichosis 101104 Marin-Amat syndrome 559 Marinesco-Sjögren syndrome 2717 Marles syndrome Marles-Greenberg-Persaud 2717 syndrome 583 Maroteaux-Lamy disease Maroteaux-Le Merrer-Bensahel 2767 syndrome 950 Maroteaux-Malamut syndrome Maroteaux-Stanescu-Cousin 1423 syndrome Maroteaux-Verloes-Stanescu 1040 syndrome 560 Marshall syndrome Marshall syndrome with periodic 42642 fever 561 Marshall-Smith syndrome 908 Martin-Bell syndrome 85321 Martin-Probst syndrome →293864 Martínez-Frías syndrome Martinique crinkled retinal 466718 pigment epitheliopathy 1387 Martsolf syndrome 2466 MASA syndrome →284963 MASS syndrome 66661 Mast cell sarcoma 101001 Mast syndrome Mastocytosis-short stature2135 hearing loss syndrome 3282 MAT 168598 MAT deficiency 168598 MAT I/III deficiency Maternal 14q32.2 254534 hypermethylation syndrome Maternal 14q32.2 microdeletion 254528 syndrome Maternal anti-Kell 275944 alloimmunization 254528 Maternal del(14)(q32.2) 2209 Maternal hyperphenylalaninemia Maternal hyperthermia induced 2216 birth defects →60030



106

ORPHA Disease name number 254528 Maternal monosomy 14q32.2 2209 Maternal phenylketonuria 2209 Maternal PKU 411712 Maternal riboflavin deficiency 251009 96179 96180 96181 96183 97678 96184 96185 96186 96187 96188 261519 96186 1349 1349

663 663 225

255210 255210 255210 254851 663 320360 320360 2015 2470 552

Maternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 6 Maternal uniparental disomy of chromosome 9 Maternal uniparental disomy of chromosome 13 Maternal uniparental disomy of chromosome 14 Maternal uniparental disomy of chromosome 16 Maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 21 Maternal uniparental disomy of chromosome 22 Maternal uniparental disomy of chromosome X Maternal UPD(20) Maternally-inherited cardiomyopathy and deafness Maternally-inherited cardiomyopathy and hearing loss Maternally-inherited chronic progressive external ophthalmoplegia Maternally-inherited CPEO Maternally-inherited diabetes and deafness Maternally-inherited infantile subacute necrotizing encephalopathy Maternally-inherited Leigh disease Maternally-inherited Leigh syndrome Maternally-inherited mitochondrial dystonia Maternally-inherited progressive external ophthalmoplegia Maternally-inherited spastic paraplegia Maternally-inherited SPG Mathieu-De Broca-Bony syndrome Matthew-Wood syndrome Maturity-onset diabetes of the young

ORPHA Disease name number 293603 Maumenee corneal dystrophy

Maxillary arteriovenous malformation 1248 Maxillonasal dysostosis 1248 Maxillonasal dysplasia →182050 May-Hegglin anomaly →182050 May-Hegglin syndrome →182050 May-Hegglin thrombocytopenia Mayer-Rokitansky-Küster-Hauser 3109 syndrome Mayer-Rokitansky-Küster-Hauser 247775 syndrome type 1 Mayer-Rokitansky-Küster-Hauser 2578 syndrome type 2 57782 Mazabraud syndrome 251858 MBEN 91138 MC 71529 MC4R deficiency 93554 MC type II 93555 MC type III MCA due to 14q32.2 maternally 254519 expressed gene defect 42 MCAD deficiency 42 MCADD 300496 MCAHS type 2 369837 MCAHS type 3 →56304 McAlister-Crane syndrome 60040 MCAP 368 McArdle disease 79140 MCC 6 MCC deficiency 85195 McCabe disease 6 MCCD 562 McCune-Albright syndrome 93686 MCD 98969 MCD 1851 MCDK 2471 McDonough syndrome →357225 McDowall syndrome 75327 MCDR1 319640 MCDR2 1035 MCDU McDuffie hypocomplementemic 36412 urticarial vasculitis 36412 McDuffie syndrome 308425 MCEE deficiency 158668 McGrath syndrome 34149 MCKD 88949 MCKD1 88950 MCKD2 2473 McKusick-Kaufman syndrome 52416 MCL McLeod neuroacanthocytosis 59306 syndrome 141171

ORPHA number 60040 MCM 60040 MCMTC 77298

Disease name

MCOPS3

85275 MCOPS4 178364 MCOPS5 139471 MCOPS6 2556 MCOPS7 3434 2470

MCOPS8 MCOPS9 77299 MCOPS10 2512 MCPH 2001 McPherson-Clemens syndrome 2999 McPherson-Hall syndrome 319287 MCRCC 466718 MCRPE 59 MCT8 deficiency 809 MCTD 523 MCUL 565 MD 273 MD1 258 MDC1A 98893 MDC1B →370953 MDC1C →370953 MDC1D 210272 MdD 210272 MdDS 1836 MDK 238744 MDN syndrome 363649 MDP syndrome 3097 Meacham syndrome 3097 Meacham-Winn-Culler syndrome 435438 MEAK MEB disease with bilateral 370997 multicystic leucodystrophy 588 MEB syndrome 98954 MECD 564 Meckel syndrome 3032 Meckel syndrome type 7 564 Meckel-Gruber syndrome 3032 Meckel-like syndrome type 1 70588 Meconium aspiration syndrome Meconium ileus due to guanylate 314376 cyclase 2C deficiency →1762 MECP2 duplication syndrome 93308 MED1 93307 MED4 93311 MED5 98838 Med-DLBCL 3453 MEDAC syndrome 2476 Medeira-Dennis-Donnai syndrome Medial condensing osteitis of the 57196 clavicle 2006 Median cleft lip/mandibule 2006 Median cleft lower facial stage



107

ORPHA number 141239

1993 2699 98838 63999 370127 370127 231 231 231214 100025 →2882 83313 42 42 171851 88949 29073 1309 1332 616 251858 251883 98954 97252 66629 280671 238637 2241

2241

2604 402023 402023 2478 2478

Disease name

Median cleft of the upper lip and maxilla Median cleft of the upper lipcorpus callosum lipoma-cutaneous polyps syndrome Median nodule of the upper lip Mediastinal diffuse large-cell lymphoma with sclerosis Mediastinal fibrosis Medich giant platelet syndrome Medich macrothrombocytopenia Medina worm disease Medinensis Mediterranean anemia Mediterranean lymphoma Mediterranean macrothrombocytopenia Mediterranean spotted fever Medium chain acyl-CoA dehydrogenase deficiency Medium chain acyl-coenzyme A dehydrogenase deficiency MEDNIK syndrome Medullary cystic kidney disease type 1 Medullary plasmacytoma Medullary sponge kidney Medullary thyroid carcinoma Medulloblastoma Medulloblastoma with extensive nodularity Medulloepithelioma of the central nervous system Meesmann corneal dystrophy Mega-cisterna magna Megacolon-microcephaly syndrome Megaconial congenital muscular dystrophy Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megaduodenum and/or megacystis Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megakaryoblastic AML with t(1;22)(p13;q13) Megalencephalic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA Disease name number 2477 Megalencephaly 60040

60040

60040

2478

83473

457359

2479 238763 50815 238637 352328 3038 85282 2196 2554 90186 93964 90186 93964 →90186 314451 98868 98868 252206 97338 252206 404560 79146 79146 550 87503 2482 31202 2483 2484 2484 2485 1879

Megalencephaly-capillary malformation syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-cystic leukodystrophy syndrome Megalencephaly-polymicrogyriapostaxial polydactylyhydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megalocornea-intellectual disability syndrome Megalocornea-spherophakiasecondary glaucoma syndrome Mégarbané-Loiselet syndrome Megaureter-megacystis syndrome MEGDEL syndrome Mehes syndrome MEHMO syndrome Meier-Blumberg-Imahorn syndrome Meier-Gorlin syndrome Meige disease Meige dystonia Meige lymphedema Meige syndrome Meige-like disease Meigs syndrome Melanesian elliptocytosis Melanesian ovalocytosis Melanoma and neural system tumor syndrome Melanoma of soft tissue Melanoma-astrocytoma syndrome Melanoma-pancreatic cancer syndrome Melanosis diffusa congenita Melanosis universalis hereditaria MELAS Meleda disease Melhem-Fahl syndrome Melioidosis Melkersson-Rosenthal syndrome Melnick-Needles osteodysplasty Melnick-Needles syndrome Melorheostosis Melorheostosis with osteopoikilosis

ORPHA number 93571 652 653 247698 247709 276152 401973 319552

99898

319547

319558

319552

99898

319547

319558

319563

319600

319600

319595

319595 2494 3216 252046

Disease name

Membranoproliferative glomerulonephritis type 2 MEN1 MEN2 MEN2A MEN2B MEN4 MEND syndrome Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Ménétrier disease Mengel-Konigsmark syndrome Meningeal melanocytoma



108

ORPHA Disease name number 2495 Meningioma →823 Meningocele 33475 565 565 498251 498251

75858 330021 330021 330021 79140 258 551 54370 386 238593 238593 99701 295004 295173 295171 295010 295185 295183 157801 95443 289 2496 2496 2632 2633 2634 2631 97360 85170

Meningococcal meningitis Menkes disease Menkes syndrome Menstrual cycle-dependent febrile episode Menstrual cycle-dependent periodic fever Mental retardation-truncal obesity-retinal dystrophymicropenis syndrome Mercurialism Mercury intoxication Mercury poisoning Merkel cell carcinoma Merosin-negative congenital muscular dystrophy MERRF Mesangiocapillary glomerulonephritis Mesenchymal hamartoma of liver Mesenteric lipogranuloma Mesenteric panniculitis Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial polydactyly of fingers Mesoaxial polydactyly of fingers, bilateral Mesoaxial polydactyly of fingers, unilateral Mesoaxial polydactyly of toes Mesoaxial polydactyly of toes, bilateral Mesoaxial polydactyly of toes, unilateral Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia Mesodermic dysplasia Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dwarfism, Langer type Mesomelic dwarfism, Nievergelt type Mesomelic dwarfism, ReinhardtPfeiffer type Mesomelic dwarfism-cleft palatecamptodactyly syndrome Mesomelic dwarfism-small genitalia syndrome Mesomelic dysplasia with absent fibulas and triangular tibias

ORPHA number 2496

1836 2633 85170 1836 171690 2499 512 309271 309263 309256 1240 1040 33067 166038 175 174 2501 166035 99646

2502

→175 85188 3005 2504 213531 2635 2635 88639 31825 1923 1923

Disease name

Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Thai type Metabolic myopathy due to lactate transporter defect Metachondromatosis Metachromatic leukodystrophy Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Metaphyseal acroscyphodysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, McKusick type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal chondrodysplasiaretinitis pigmentosa syndrome Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosisintellectual disability-conductive deafness syndrome Metaphyseal dysplasia without hypotrichosis Metaphyseal dysplasia, BraunTinschert type Metaphyseal dysplasia, Pyle type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaplastic carcinoma of the breast Metatropic dwarfism Metatropic dysplasia Methacrylic aciduria Methanol poisoning Methimazole embryofetopathy Methimazole/carbimazole embryofetopathy

ORPHA number 1923 168598 86904 1917 622 308380 2169 2170 395

308425

308425

26 79284 79282 79283 369955 369962 280183 280183

308425

308425

280183 26 79282 79283 79284

Disease name

Methimazole/carbimazole embryopathy Methionine adenosyltransferase deficiency Methotrexate-associated lymphoproliferative disorders Methyl mercury antenatal infection Methylcobalamin deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylene tetrahydrofolate reductase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia, TCb1R type Methylmalonic acidemia, TCbIR type Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Methylmalonic aciduria with homocystinuria Methylmalonic aciduria with homocystinuria, type cblC Methylmalonic aciduria with homocystinuria, type cblD Methylmalonic aciduria with homocystinuria, type cblF



109

ORPHA number

Disease name

Methylmalonic aciduria with homocystinuria, type cblJ Methylmalonic aciduria with 369962 homocystinuria, type cblX Methylmalonyl-CoA mutase 27 deficiency Methylmalonyl-Coenzyme A 27 mutase deficiency 29 Mevalonic aciduria 2710 Meyer-Schwickerath syndrome 443995 MFDA 79113 MFDM syndrome 558 MFS 284963 MFS1 284973 MFS2 67046 MGA1 111 MGA2 67047 MGA3 67048 MGA4 66634 MGA5 445038 MGA7 79329 MGAT2-CDG →182050 MHA 443162 MHAC 391417 MHBD deficiency 391428 MHBD deficiency, classic type 391428 MHBD deficiency, infantile type 391457 MHBD deficiency, neonatal type 572 MHC class II expression deficiency 99826 MHF 386 MHL 79651 mHPA 294016 MIC-CAP syndrome 294016 MIC-CM syndrome →293843 Michels syndrome 163937 MICPCH 2510 Micro syndrome Microbrachycephaly-ptosis-cleft 2511 lip syndrome 2512 Microcephalia vera Microcephalic osteodysplastic 85172 dysplasia, Saul-Wilson type Microcephalic osteodysplastic 2637 primordial dwarfism type II Microcephalic osteodysplastic 2636 primordial dwarfism types I and III Microcephalic osteodysplastic 2636 primordial dwarfism, Taybi-Linder type Microcephalic primordial 468631 dwarfism due to RTTN deficiency Microcephalic primordial 329228 dwarfism due to ZNF335 deficiency Microcephalic primordial 319671 dwarfism, Alazami type 369955

ORPHA number 319675 2643 329228

436182

240760 2512 2513 3433

2523

294016 2516 2515

329332

329332

434179

2522 2521

423894

488168

2508

500159

457284

294016

Disease name

Microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism, Toriello type Microcephalic primordial dwarfism, Walsh type Microcephalic primordial dwarfism-insulin resistance syndrome Microcephaly and chromosomal instability without immunodeficiency Microcephaly vera Microcephaly-albinism-digital anomalies syndrome Microcephaly-brachydactylykyphoscoliosis syndrome Microcephaly-brain defectspasticity-hypernatremia syndrome Microcephaly-capillary malformation syndrome Microcephaly-cardiac defect-lung malsegmentation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome Microcephaly-cerebral malformation-orofaciodigital syndrome Microcephaly-cervical spine fusion anomalies syndrome Microcephaly-cleft palate syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-congenital cataractpsoriasiform dermatitis syndrome Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom Microcephaly-corpus callosum hypoplasia-intellectual disabilityfacial dysmorphism syndrome Microcephaly-cutaneous capillary malformation syndrome

ORPHA number 2533 137653 1305

391641

391646

217026 217026 2172 2065

2558

3132

647

137658

457351

457351

1305

391641

391646

1229

2526 2528

Disease name

Microcephaly-deafnessintellectual disability syndrome Microcephaly-digital anomaliesintellectual disability syndrome Microcephaly-digital anomaliesnormal intelligence syndrome Microcephaly-digital anomaliesnormal intelligence syndrome type 1 Microcephaly-digital anomaliesnormal intelligence syndrome type 2 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type Microcephaly-faciocardioskeletal syndrome Microcephaly-glomerulonephritismarfanoid habitus syndrome Microcephaly-hiatus hernianephrotic syndrome Microcephaly-hypergonadotropic hypogonadism-short stature syndrome Microcephalyhypogammaglobulinemiaabnormal immunity syndrome Microcephaly-immunodeficiencylymphoreticuloma syndrome Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome Microcephaly-intellectual disability-sensorineural deafnessepilepsy-abnormal muscle tone syndrome Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Microcephaly-intellectual disability-tracheoesophageal fistula syndrome Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2 Microcephaly-intracranial calcification-intellectual disability syndrome Microcephaly-lymphedemachorioretinopathy syndrome Microcephaly-microcornea syndrome, Seemanova type



110

ORPHA number 3434

1305

391641

171703

2519

423306

397951

2670 2535 2536 369970

231736

263347

79490 79490 79490 83642 77301 567 90024 101081 217377 280200 280200 2538 1388 476126

Disease name

Microcephaly-microphthalmiaectrodactyly of lower limbsprognathism syndrome Microcephaly-oculo-digitoesophageal-duodenal syndrome syndrome Microcephaly-oculo-digitoesophageal-duodenal syndrome syndrome type 1 Microcephaly-polymicrogyriacorpus callosum agenesis syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome Microcephaly-short statureintellectual disability-facial dysmorphism syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microcoria-congenital nephrosis syndrome Microcornea-corectopia-macular hypoplasia syndrome Microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microcornea-rod-cone dystrophycataract-posterior staphyloma syndrome Microcystic infiltrating lymphatic malformation Microcystic lymphangioma Microcystic lymphatic malformation Microcytic anemia with liver iron overload Microdeletion 9q22.3 Microdeletion 22q11.2 Microdontia-type I microtiadeafness syndrome Microduplication 17p12 Microduplication Xp11.22-p11.23 syndrome Microform holoprosencephaly Microform HPE Microgastria-limb reduction defect syndrome Micrognathia digital syndrome Micrognathia-recurrent infectionsbehavioral abnormalities-mild intellectual disability syndrome

ORPHA Disease name number 1083 Microlissencephaly 89844 Microlissencephaly type A 50810 2641 93329 139471 98938 1104 1106 2556 568 85275 98938 77299 424099 2556 →2510 2547 2705

251279 727 727 727 2551 2552 83463 2306 139450 289522 2290 2290 166430 1456 1456 228299

Microlissencephaly-micromelia syndrome Micromelic dwarfism, Fryns type Micromelic dysplasia-dislocation of radius syndrome Microphthalmia with brain and digit anomalies Microphthalmia with colobomatous cyst Microphthalmia with facial clefting Microphthalmia with limb anomalies Microphthalmia with linear skin defects syndrome Microphthalmia, Lenz type Microphthalmia-ankyloblepharonintellectual disability syndrome Microphthalmia-anophthalmiacoloboma syndrome Microphthalmia-brain atrophy syndrome Microphthalmia-colobomarhizomelic skeletal dysplasia Microphthalmia-dermal aplasiasclerocornea syndrome Microphthalmia-intellectual disability syndrome Microphthalmia-microtia-fetal akinesia syndrome Microphthalmia-optic nerve aplasia syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Micropolyangiitis Microscopic polyangiitis Microscopic polyarteritis Microspherophakia-metaphyseal dysplasia syndrome Microsporidiosis Microtia Microtia-aortic arch syndrome Microtia-eye colobomaimperforation of the nasolacrimal duct syndrome Microtriplication 11q24.1 Microvillous inclusion disease Microvillus inclusion disease Micturation-induced seizures Mid-aortic dysplastic syndrome Mid-aortic syndrome Mid-dermal elastolysis

ORPHA Disease name number 1456 Midaortic syndrome 2556 MIDAS syndrome 225

MIDD

1456 Middle aortic syndrome 100084 Middle ear neuroendocrine tumor 93926 93926 141288 95443 93926 2557 2867 293181 293181 504 93926 93926 93926 93926 2558 79078 314918 169799 169808 169808 169799 79651 79651 171439 216796 247815 79253 411536 79253 411536 411536 93279 246 531 98919 94091 79452 →79452

Middle interhemispheric fusion variant Middle interhemispheric variant of holoprosencephaly Midline cervical cleft Midline heart Midline interhemispheric variant of holoprosencephaly Mietens syndrome Mievis-Verellen-Dumoulin syndrome Migrating partial epilepsy of infancy Migrating partial seizures of infancy Migratory myiasis MIH MIH type HPE MIHF MIHV Mikati-Najjar-Sahli syndrome Mikulicz disease Mild Canavan disease Mild factor IX deficiency Mild factor VIII deficiency Mild hemophilia A Mild hemophilia B Mild HPA Mild hyperphenylalaninemia Mild nemaline myopathy Mild osteogenesis imperfecta Mild peroxismal disorder due to PEX10 deficiency Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild PKU Mild PRPP synthetase superactivity Mild PRPS1 superactivity Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Miller syndrome Miller-Dieker syndrome Miller-Fisher syndrome Mills syndrome Milroy disease Milroy-like disease



111

ORPHA Disease name number 255210 MILS 1917 Minamata disease

ORPHA number

Mitochondrial DNA depletion 279934 syndrome, hepatocerebral form

457485 MINDS syndrome

Mineralocorticoid resistant hyperkalemia →293843 Mingarelli syndrome Minimal pigment oculocutaneous 352734 albinism type 1 Minimally differentiated acute 98832 myeloblastic leukemia 822 Minkowski-Chauffard disease 1918 Minoxidil antenatal infection 494433 MIRAGE syndrome 94125 MIRAS Mirhosseini-Holmes-Walton →193 syndrome 295010 Mirror foot 295185 Mirror foot, bilateral 295183 Mirror foot, unilateral 295004 Mirror hand 295173 Mirror hand, bilateral 295171 Mirror hand, unilateral Mirror hands and feets-nasal 2378 defects syndrome Mirror polydactyly-vertebral 3004 segmentation-limbs defects syndrome 498494 Mirror-image polydactyly MiT family translocation renal cell 319308 carcinoma MITF-related melanoma and renal 293822 cell carcinoma predisposition syndrome Mitochondrial acetoacetyl134 coenzyme A thiolase deficiency Mitochondrial aspartate353217 glutamate carrier 1 deficiency 225 Mitochondrial diabetes Mitochondrial DNA deletion 352470 syndrome with limb-girdle weakness Mitochondrial DNA deletion 352470 syndrome with progressive myopathy Mitochondrial DNA depletion 1933 syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion 255235 syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic 369897 form with variable craniofacial anomalies 757

Disease name

363534

254875

352447

1194

1194

1194

238329

238329

550

1933

280288

314637

168609

168609

168609

168609

289560

due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA maintenance syndrome due to MGME1 deficiency Mitochondrial encephalo-cardiomyopathy due to F1Fo ATPase deficiency Mitochondrial encephalo-cardiomyopathy due to isolated ATP synthase deficiency Mitochondrial encephalo-cardiomyopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial encephalomyopathyaminoacidopathy syndrome Mitochondrial HSP60 chaperonopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure Mitochondrial membrane proteinassociated neurodegeneration

ORPHA number

Disease name

Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with 254864 reversible complex IV deficiency Mitochondrial myopathy with 254864 reversible COX deficiency Mitochondrial myopathy with 254864 reversible cytochrome C oxidase deficiency Mitochondrial myopathy, 550 encephalopathy, lactic acidosis and stroke-like episodes Mitochondrial myopathy-lactic 2597 acidosis-deafness syndrome Mitochondrial myopathy-lactic 2597 acidosis-hearing loss syndrome Mitochondrial 298 neurogastrointestinal encephalomyopathy Mitochondrial non-syndromic 90641 neurosensory deafness Mitochondrial non-syndromic neurosensory deafness with 168609 susceptibility to aminoglycoside exposure Mitochondrial non-syndromic neurosensory hearing loss with 168609 susceptibility to aminoglycoside exposure Mitochondrial non-syndromic 90641 sensorineural deafness Mitochondrial non-syndromic sensorineural deafness with 168609 susceptibility to aminoglycoside exposure Mitochondrial non-syndromic sensorineural hearing loss with 168609 susceptibility to aminoglycoside exposure Mitochondrial pyruvate carrier 447784 deficiency Mitochondrial spinocerebellar 254881 ataxia with epilepsy Mitochondrial trifunctional 746 protein deficiency 1205 Mitral atresia Mitral regurgitation-deafness3238 skeletal anomalies syndrome 99062 Mitral valve agenesis Mitral valve-aorta-skeleton-skin →284963 syndrome 295012 Mitten hand 90036 Mixed AIHA 809 Mixed connective tissue disease 91138 Mixed cryoglobulinemia 93555 Mixed cryoglobulinemia type III 2598



112

ORPHA Disease name number 458792 Mixed cystic lymphangioma 458792 180234 252021 252021 213610 251656 2785 2785 1879 324364 90036 399096 45448 98757 565 423461 423470 423461 423470 2598 2478 2526 512 309271 309263 309256 59306 2556 464321 369970 598 399096 497757 497757

497757 3434 592 268249 1923 1923 2241 213512 641

Mixed cystic lymphatic malformation Mixed germ cell tumor Mixed germ cell tumor of central nervous system Mixed germ cell tumor of CNS Mixed Müllerian cancer of corpus uteri Mixed oligoastrocytoma Mixed renal tubular acidosis Mixed RTA Mixed sclerosing bone dystrophy Mixed sclerosing bone dystrophy with extra-skeletal manifestations Mixed-type autoimmune hemolytic anemia Miyoshi muscular dystrophy type 3 Miyoshi myopathy MJD MK ML 3 alpha/beta ML 3 gamma ML III alpha/beta ML III gamma MLASA MLC MLCRD MLD MLD, adult form MLD, juvenile form MLD, late infantile form MLS MLS syndrome MLT MMCAT syndrome MmD MMD3 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MME-related autosomal dominant CMT2 MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 MMEP syndrome MMF MMF embryopathy MMI/CMZ embryofetopathy MMI/CMZ embryopathy MMIHS MMMT of the ovary MMN

ORPHA number 641 MMNCB 137867 MMND

Disease name

293181 MMPEI 293181 MMPSI 2479 MMR syndrome 1305

MMT

391641 MMT type 1 391646 MMT type 2 298 MNGIE 565 251656 77299 570 99732 308386 308393 308400 1305 391641 90056 178145 169796 169805 169805 169796 263335 552 93111 570 2560

1420 3198 2549 79330 2751 2753 52368 99927 1433 397973 2563 371428 573 573 319254 319254

MNK MOA MOBA syndrome Möbius syndrome MOCOD MOCOD type A MOCOD type B MOCOD type C MODED syndrome MODED syndrome type 1 Moderate and severe traumatic brain injury Moderate multiminicore disease with hand involvement Moderately severe factor IX deficiency Moderately severe factor VIII deficiency Moderately severe hemophilia A Moderately severe hemophilia B Moderately-differentiated thymic neuroendocrine carcinoma MODY MODY5 Moebius syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Moerman-Vandenberghe-Fryns syndrome Moersch-Woltman syndrome Moeschler-Clarren syndrome MOGS-CDG Mohr syndrome Mohr-Majewski syndrome Mohr-Tranebjaerg syndrome Molar pregnancy Moloney syndrome MOMES syndrome MOMO syndrome MONA spectrum Monilethrix Moniliform hair syndrome Monkey disease Monkey fever

ORPHA Disease name number 3057 Monoamine oxidase A deficiency 59 228423 228423 228423 99885 228423 65684 86870 2565 2901 293948 401986 456298 1606 1606 250989 250999 250999 238769 36367 261349 261349 163693 228402 1617 251014 251019 251019 251019 251028 1001 435638 1620 1621 356947 356947 65286 65286 238750 96145 281 228384 314655 1627 251046 96125 171829 251056

Monocarboxylate transporter 8 deficiency Monocyte-B-natural killerdendritic cell deficiency syndrome Monocytopenia and mycobacterial infection syndrome Monocytopenia with susceptibility to infections Monogenic diabetes of infancy MonoMAC Monomelic amyotrophy Monomorphic NK-cell lymphoma Mononen-Karnes-Senac syndrome Mononeuritis multiplex with brachial predilection Monosomy 1p21.3 Monosomy 1p31p32 Monosomy 1p35.2 Monosomy 1p36 Monosomy 1pter Monosomy 1q21.1 Monosomy 1q41-q42 Monosomy 1q41q42 Monosomy 1q44 Monosomy 1qter Monosomy 2p15-p16.1 Monosomy 2p15p16.1 Monosomy 2p21 Monosomy 2q23.1 Monosomy 2q24 Monosomy 2q31.1 Monosomy 2q32 Monosomy 2q32-q33 Monosomy 2q32q33 Monosomy 2q33.1 Monosomy 2q37-qter Monosomy 3p25.3 Monosomy 3pter Monosomy 3q13 Monosomy 3q26-q27 Monosomy 3q26q27 Monosomy 3q29 Monosomy 3qter Monosomy 4q21 Monosomy 4qter Monosomy 5p Monosomy 5q14.3 Monosomy 5q31.3 Monosomy 5q35 Monosomy 6p22 Monosomy 6p25 Monosomy 6q16 Monosomy 6q25



113

ORPHA Disease name number 96126 Monosomy 7pter 904 Monosomy 7q11.23 251061 Monosomy 7q31 1636 Monosomy 7qter 251066 Monosomy 8p11.2 251071 Monosomy 8p23.1 2496

Monosomy 8q13

ORPHA Disease name number 363958 Monosomy 17q21.31 261279 Monosomy 17q23.1-q23.2 261279 Monosomy 17q23.1q23.2 1597 1598 1600 254346

284160 Monosomy 8q21.11 178303 Monosomy 8q22.1 502 Monosomy 8q24.1

357001 217346

261112 Monosomy 9p 324313 Monosomy 9p13 1642 Monosomy 9pter

313781 444051

77301

96152

401923 495818 495818 284169 1580 276413 96148 893 444002 444002 2308 313884 94063 289513 96149 412035 1587 1590 96168 261120 261144 →3157 264200 264200 401935 261183 199318 261190 94065 1596 261211 261211 261236 500055 352629 261250 531 97685 261265

Monosomy 9q22.3 Monosomy 9q31.1q31.3 Monosomy 9q33.3-q34.11 Monosomy 9q33.3q34.11 Monosomy 10p11.21p12.31 Monosomy 10pter Monosomy 10q22.3q23.3 Monosomy 10qter Monosomy 11p13 Monosomy 11q22.2-q22.3 Monosomy 11q22.2q22.3 Monosomy 11qter Monosomy 12p12.1 Monosomy 12q14 Monosomy 12q15q21.1 Monosomy 12qter Monosomy 13q12.3 Monosomy 13q14 Monosomy 13q32 Monosomy 13q34 Monosomy 14q11.2 Monosomy 14q12 Monosomy 14q22 Monosomy 14q22-q23 Monosomy 14q22q23 Monosomy 14q24.1q24.3 Monosomy 15q11.2 Monosomy 15q13.3 Monosomy 15q14 Monosomy 15q24 Monosomy 15q26 Monosomy 16p11.2-p12.2 Monosomy 16p11.2p12.2 Monosomy 16p13.11 Monosomy 16p13.2 Monosomy 16q24.1 Monosomy 16q24.3 Monosomy 17p13.3 Monosomy 17q11 Monosomy 17q12

261295

261311 574 261323 261323 268261 268261 96123 567 48652 99226 93277 158003 →969 2637 2636 141327 52056 77296 75858 35737 582 309297 309310 2570 83467 83467 329813 329813 99228 96193 1692 1723 100071 96059 96060 1747

Monosomy 17qter Monosomy 18p Monosomy 18q Monosomy 19p13.12 Monosomy 19p13.13 Monosomy 19q13.11 Monosomy 20p12.3 Monosomy 20p13 Monosomy 20q11 Monosomy 20q13.33 Monosomy 20qter Monosomy 21 Monosomy 21q22.11-q22.12 Monosomy 21q22.11q22.12 Monosomy 21q22.13-q22.2 Monosomy 21q22.13q22.2 Monosomy 22 Monosomy 22q11 Monosomy 22q13 Monosomy X Monostotic fibrous dysplasia Montgomery syndrome Moore-Federman syndrome MOPD type II MOPD types I and III Moran-Barroso syndrome Morava-Mehes syndrome Morgagni-Stewart-Morel syndrome MORM syndrome Morning glory syndrome Morquio disease Morquio disease type A Morquio disease type B Morse-Rawnsley-Sargent syndrome Morvan syndrome Morvan's fibrillary chorea Mosaic genome-wide paternal uniparental disomy Mosaic genome-wide paternal UPD Mosaic monosomy X Mosaic paternal uniparental disomy of chromosome 11 Mosaic trisomy 1 Mosaic trisomy 2 Mosaic trisomy 3 Mosaic trisomy 4 Mosaic trisomy 5 Mosaic trisomy 7

ORPHA Disease name number 96061 Mosaic trisomy 8 99776 Mosaic trisomy 9 96063 Mosaic trisomy 10 1698 1703 1706 1708 1711 1724 96068 1692 1723 100071 96059 96060 1747 96061 99776 96063 1698 1703 1706 1708 1711 1724 96068 1052 54057 2717 499009

254516 3347 83595 83595 2572 324972 2152 261537 261552 261537 261537

280679

2573

Mosaic trisomy 12 Mosaic trisomy 14 Mosaic trisomy 15 Mosaic trisomy 16 Mosaic trisomy 17 Mosaic trisomy 20 Mosaic trisomy 22 Mosaic trisomy chromosome 1 Mosaic trisomy chromosome 2 Mosaic trisomy chromosome 3 Mosaic trisomy chromosome 4 Mosaic trisomy chromosome 5 Mosaic trisomy chromosome 7 Mosaic trisomy chromosome 8 Mosaic trisomy chromosome 9 Mosaic trisomy chromosome 10 Mosaic trisomy chromosome 12 Mosaic trisomy chromosome 14 Mosaic trisomy chromosome 15 Mosaic trisomy chromosome 16 Mosaic trisomy chromosome 17 Mosaic trisomy chromosome 20 Mosaic trisomy chromosome 22 Mosaic variegated aneuploidy syndrome Moschcowitz disease MOTA syndrome Mother-to-child transmission of syphilis Motor developmental delay due to 14q32.2 paternally expressed gene defect Mounier-Kühn syndrome Mountain fever Mountain tick fever Mousa-Al Din-Al Nassar syndrome Mouth and genital ulcers with inflamed cartilage Mowat-Wilson syndrome Mowat-Wilson syndrome due to 2q22 microdeletion Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to monosomy 2q22 Moyamoya angiopathy-short stature-facial dysmorphismhypergonadotropic hypogonadism syndrome Moyamoya disease



114

ORPHA number 401945

280679 2574 352734 727 289560 59135 399086 79323 293181 54370 79319 79253 3148 252212 2587 231736 83473 579 93473 93476 93474 580 217085 217093 581 79269 79270 79271 79272 582 309297 309310 583 276212 276223 584 67041 579 293181 93473 93476 580 217085 217093 581 79269 79270 79271

Disease name

Moyamoya disease with earlyonset achalasia Moyamoya disease-short staturefacial dysmorphismhypergonadotropic hypogonadism Moynahan syndrome MP OCA type 1 MPA MPAN MPD1 MPD3 MPDU1-CDG MPEI MPGN MPI-CDG mPKU MPNST MPNST with rhabdomyosarcomatous differentiation MPO deficiency MPPC syndrome MPPH syndrome MPS1 MPS1H MPS1H/S MPS1S MPS2 MPS2A MPS2B MPS3 MPS3A MPS3B MPS3C MPS3D MPS4 MPS4A MPS4B MPS6 MPS6, rapidly progressing MPS6, slowly progressing MPS7 MPS9 MPSI MPSI MPSIH MPSIH/S MPSII MPSIIA MPSIIB MPSIII MPSIIIA MPSIIIB MPSIIIC

ORPHA number 79272 MPSIIID 93474 MPSIS 582

Disease name

MPSIV

309297 MPSIVA 309310 MPSIVB

MPSIX 583 MPSVI 276212 MPSVI, rapidly progressing 276223 MPSVI, slowly progressing 584 MPSVII 99967 MRCLS 263347 MRCS syndrome 67045 MRGH 3109 MRKH syndrome 247775 MRKH syndrome type 1 2578 MRKH syndrome type 2 →457240 MRX35 85274 MRXS7 85324 MRXS9 93952 MRXSH 2598 MSA 102 MSA 227510 MSA, cerebellar type 98933 MSA, parkinsonian type 227510 MSA-c 98933 MSA-p 1879 MSBD syndrome 254881 MSCAE 585 MSD 2619 Mseleni joint disease 480536 MSH3-related AFAP MSH3-related attenuated familial 480536 adenomatous polyposis MSH3-related attenuated familial 480536 polyposis coli 480536 MSH3-related attenuated FAP 1309 MSK MSMD due to complete 99898 IFNgammaR1 deficiency MSMD due to complete 319547 IFNgammaR2 deficiency MSMD due to complete IL12B 319558 deficiency MSMD due to complete IL12RB1 319552 deficiency MSMD due to complete interferon 99898 gamma receptor 1 deficiency MSMD due to complete interferon 319547 gamma receptor 2 deficiency MSMD due to complete 319552 interleukin 12 receptor beta 1 deficiency MSMD due to complete 319558 interleukin 12B deficiency

ORPHA number 319563 319600 319600

67041

319595

319595 157801 65748 511 1332 499009 352470 352470

1933

255235

369897

363534 254875 352447 395 99701 252212 86904 86904 100024 100024 88949

88949 88949 398961 391723 424053

Disease name

MSMD due to complete ISG15 deficiency MSMD due to partial interferon regulatory factor 8 deficiency MSMD due to partial IRF8 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency MSMD due to partial STAT1 deficiency MSSD MSSE MSUD MTC MTCT of syphilis mtDNA deletion syndrome with limb-girdle weakness mtDNA deletion syndrome with progressive myopathy mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies mtDNA depletion syndrome, hepatocerebrorenal form mtDNA depletion syndrome, myopathic form mtDNA maintenance syndrome due to MGME1 deficiency MTHFR deficiency MTLE-HS MTT MTX-associated lymphoproliferative disorders MTX-LPD mu-HCD Mu-heavy chain disease MUC1-related autosomal dominant medullary cystic kidney disease MUC1-related autosomal dominant tubulointerstitial kidney disease MUCI-related ADTKD Mucinous adenocarcinoma of ovary Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of the pancreas



115

ORPHA number 319322 575 2331 2451 423461 423470 576 576 577 423461 423470 578 579 93473 93476 93474 580 217093 217085 217085 217093 581 79269 79270 79271 79272 582 309297 309310 583 276212 276223 584 67041 579 93473 93476 580 217093 217085 217085 217093 581 79269 79270

Disease name

Mucinous tubular and spindle cell renal carcinoma Muckle-Wells syndrome Mucocutaneous lymph node syndrome Mucocutaneous venous malformations Mucolipidosis type 3 alpha/beta Mucolipidosis type 3 gamma Mucolipidosis type II Mucolipidosis type II alpha/beta Mucolipidosis type III Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Mucolipidosis type IV Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 1H Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type 1S Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 2A Mucopolysaccharidosis type 2B Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 3A Mucopolysaccharidosis type 3B Mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3D Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 9 Mucopolysaccharidosis type I Mucopolysaccharidosis type IH Mucopolysaccharidosis type IH/S Mucopolysaccharidosis type II Mucopolysaccharidosis type II, attenuated form Mucopolysaccharidosis type II, severe form Mucopolysaccharidosis type IIA Mucopolysaccharidosis type IIB Mucopolysaccharidosis type III Mucopolysaccharidosis type IIIA Mucopolysaccharidosis type IIIB

ORPHA Disease name number 79271 Mucopolysaccharidosis type IIIC 79272 Mucopolysaccharidosis type IIID 93474 Mucopolysaccharidosis type IS

ORPHA number

582 Mucopolysaccharidosis type IV 309297 Mucopolysaccharidosis type IVA 309310 Mucopolysaccharidosis type IVB

99873

67041 583 276212 276223 584 73263 52417 52417 46486 585 46486 46486 586 53271 444 587 2576 2576 247768

1655

2491

2578

247768

2774 93686 93686 371428 85196 139436 1851 168816 1851

Mucopolysaccharidosis type IX Mucopolysaccharidosis type VI Mucopolysaccharidosis type VI, rapidly progressing Mucopolysaccharidosis type VI, slowly progressing Mucopolysaccharidosis type VII Mucormycosis Mucosa-associated lymphatic tissue lymphoma Mucosa-associated lymphoid tissue lymphoma Mucosal pemphigoid Mucosulfatidosis Mucosynechial pemphigoid Mucous membrane pemphigoid Mucoviscidosis Muenke syndrome MUHH Muir-Torre syndrome MULIBREY dwarfism MULIBREY nanism Müllerian aplasia and hyperandrogenism Müllerian derivativeslymphangiectasia-polydactyly syndrome Müllerian duct anomalies-limb anomalies syndrome Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome Müllerian duct failure and hyperandrogenism Multicentric carpo-tarsal osteolysis with or without nephropathy Multicentric Castleman disease Multicentric giant lymph node hyperplasia Multicentric osteolysis-nodulosisarthropathy spectrum Multicentric osteolysis-nodulosisarthropathy syndrome Multicentric reticulohistiocytosis Multicystic dysplastic kidney Multicystic mesothelioma Multicystic renal dysplasia

48162 3282

464321

464321 641 641 2033 99003 99003 3286 319287 319287 319287 319287 97366 319287 319287 319287 168816 97366 97366 598 598 2091

500135

26791 394532 394529 2505 2678

Disease name

Multifocal acquired demyelinating sensory and motor neuropathy Multifocal atrial tachycardia Multifocal eosinophilic granuloma Multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal lymphangioendotheliomatosisthrombocytopenia syndrome Multifocal motor neuropathy Multifocal motor neuropathy with conduction block Multifocal muscular fibrosisobstructed vessels syndrome Multifocal pattern dystrophy simulating fundus flavimaculatus Multifocal pattern dystrophy simulating Stargardt disease Multifocal ventricular premature beats Multilocular clear cell adenocarcinoma Multilocular clear cell carcinoma Multilocular clear cell renal cell adenocarcinoma Multilocular clear cell renal cell carcinoma Multilocular cyst of the kidney Multilocular cystic renal cell adenocarcinoma Multilocular cystic renal cell carcinoma Multilocular cystic renal neoplasm of low malignant potential Multilocular peritoneal inclusion cyst Multilocular renal cyst Multiloculated renal cyst Multiminicore disease Multiminicore myopathy Multinodular goiter-cystic kidneypolydactyly syndrome Multinucleated neuronsanhydramnios-renal dysplasiacerebellar hypoplasiahydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multiple benign circumferential skin creases on limbs Multiple café-au-lait spots



116

ORPHA Disease name number 2678 Multiple café-au-lait syndrome 321 Multiple cartilaginous exostoses

ORPHA number

Multiple epiphyseal dysplasia166024 macrocephaly-distinctive facies

Multiple congenital anomalies due 254519 to 14q32.2 maternally expressed 280633

300496

369837

1486 137776 523

3453

652 653 247698 247709 247709 276152 166002 93308 93307 93311 166016 166024 166011 166016 166032

166029

gene defect Multiple congenital anomalieshypotonia-seizures syndrome Multiple congenital anomalieshypotonia-seizures syndrome type 2 Multiple congenital anomalieshypotonia-seizures syndrome type 3 Multiple contracture syndrome, Finnish type Multiple contracture syndrome, Israeli-Bedouin type Multiple cutaneous and uterine leiomyomas Multiple endocrine deficiencyAddison disease-candidiasis syndrome Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 3 Multiple endocrine neoplasia type 4 Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia with Robin phenotype Multiple epiphyseal dysplasia, AlGazali type Multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

Disease name

166011 50920 83454 201 2300 284139

294049 493 65748 587 79455 401869 401874 363424 457406 29073 →636 435329 321 324299 324299 95494 →1234 2215 3151 65748 585 2398 3237 102 227510

syndrome Multiple epiphyseal dysplasiamyopia-deafness syndrome Multiple fibroadenoma of the breast Multiple glomus tumors Multiple hamartoma syndrome Multiple intestinal atresia Multiple joint dislocations-short stature-craniofacial dysmorphismcongenital heart defects syndrome multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome Multiple keratoacanthoma Multiple keratoacanthoma, Ferguson-Smith type Multiple keratoacanthoma, MuirTorre type Multiple mastocytoma Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome type 4 Multiple myeloma Multiple non-ossifying fibromatosis Multiple ossifying fibroma Multiple osteochondromas Multiple paragangliomas associated with erythrocytosis Multiple paragangliomas associated with polycythemia Multiple pituitary hormone deficiencies, genetic forms Multiple pterygium syndrome, Aslan type Multiple pterygium-malignant hyperthermia syndrome Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple self-healing squamous epithelioma Multiple sulfatase deficiency Multiple symmetric lipomatosis Multiple synostoses syndrome Multiple system atrophy Multiple system atrophy, cerebellar type

ORPHA number 98933 102 404463 2959 2578 83315 2028 99849 171445 97234 588 370997 588 2576 2579

424261 199340 1877 99849 324416

2349 3079 494 494

659

659 247798 247798 247798 247798 29 2290 2582

Disease name

Multiple system atrophy, parkinsonian type Multisystem atrophy Multisystemic smooth muscle dysfunction syndrome Mulvihill-Smith syndrome MURCS association Murine typhus Murray-Puretic-Drescher syndrome Muscle enolase deficiency Muscle filaminopathy Muscle phosphoglycerate mutase deficiency Muscle-eye-brain disease Muscle-eye-brain disease with bilateral multicystic leucodystrophy Muscle-eye-brain syndrome Muscle-liver-brain-eye nanism Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome Muscular dystrophy with progressive weakness, distal contractures and rigid spine Muscular dystrophy, Selcen type Muscular dystrophy-white matter spongiosis syndrome Muscular enolase deficiency Muscular hypertrophyhepatomegaly-polyhydramnios syndrome Muscular pseudohypertrophyhypothyroidism syndrome Mutchinick syndrome Mutilating keratoderma of Vohwinkel Mutilating keratoderma plus deafness Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques Mutilating palmoplantar keratoderma with periorificial keratotic plaques MUTYH-related AFAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli MUTYH-related attenuated FAP MVA MVID Myalgia-eosinophilia syndrome associated with tryptophan



117

ORPHA Disease name number 589 Myasthenia gravis

MYBPC1-related autosomal 498693 recessive non-lethal AMC

498693 2583 314946 268249 83482 2584 178512 183713 59298 135 2585 268813

494433

494433

86841

824 86850 168953

168947

168950 29073 93969 2587 437572

437572 437572 182050 182050 182050

syndrome MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Mycetoma Mycobacterium xenopi infection Mycophenolate mofetil embryopathy Mycoplasma encephalitis Mycosis fungoides, Alibert-Bazin type Mycosis fungoides-associated follicular mucinosis MyD88 deficiency Myelinoclastic diffuse sclerosis Myelinosis centralis diffusa Myelocerebellar disorder Myelocystocele Myelodysplasia-infectionrestriction of growth-adrenal hypoplasia-genital anomaliesenteropathy syndrome Myelodysplasia-infectionrestriction of growth-adrenal hypoplasia-genital phenotypesenteropathy syndrome Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelofibrosis with myeloid metaplasia Myeloid sarcoma Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myelomatosis Myelomeningocele Myeloperoxidase deficiency MYH7-related late-onset scapuloperoneal muscular dystrophy MYH7-related late-onset scapuloperoneal syndrome MYH7-related late-onset SPMD MYH9-RD MYH9-related disease MYH9-related disorder

ORPHA Disease name number 182050 MYH9-related syndrome 182050 2588 109 480491 480491 45 1942 36899 →36899 86913 86909 1942 1942

435438

551 86913 2589 36899 →36899 163696 178464 104077 2596 88635

97234

43115 171889 2598

2601

1358 289685 368

MYH9-related syndromic thrombocytopenia Myhre syndrome Myhre-Riley-Smith syndrome MYO5B deficiency MYO5B-related progressive familial intrahepatic cholestasis Myoadenylate deaminase deficiency Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic dystonia 15 Myoclonic epilepsy in nonprogressive encephalopathies Myoclonic epilepsy of infancy Myoclonic-astastic epilepsy Myoclonic-astatic epilepsy in early childhood Myoclonus epilepsy and ataxia due to potassium channel mutation Myoclonus epilepsy associated with ragged-red fibres Myoclonus epilepsy in nonprogressive encephalopathies Myoclonus-cerebellar ataxiadeafness syndrome Myoclonus-dystonia syndrome Myoclonus-dystonia type 15 Myoclonus-nephropathy syndrome Myofibrillar myopathy with early respiratory failure Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy due to calsequestrin and SERCA1 protein overload Myopathy due to phosphoglycerate mutase deficiency Myopathy with exercise intolerance, Swedish type Myopathy with hexagonally crosslinked tubular arrays Myopathy, lactic acidosis and sideroblastic anemia Myopathy-growth delayintellectual disability-hypospadias syndrome Myopathy-Moebius-Robin syndrome Myopericytoma Myophosphorylase deficiency

ORPHA Disease name number 178493 Myopic macular degeneration 178493 Myopic maculopathy 289380 Myosclerosis 337 764 764 306553 614 99734 99735 3101 99736 800 273 606 →52430 800 79105 79105 99967 57782 1359 251643 2608 79270 583 309297 576 79329 137754 103908 178303 439196 69087 69087 840 245 3137 79279 79280 79281

Myositis ossificans progressiva Myositis purulenta tropica Myositis tropicans Myospherulosis Myotonia congenita Myotonia fluctuans Myotonia permanens Myotonia-intellectual disabilityskeletal anomalies syndrome Myotonia-painful contractions syndrome Myotonic chondrodystrophy Myotonic dystrophy type 1 Myotonic dystrophy type 2 Myotonic dystrophy type 3 Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Myxofibrosarcoma Myxoid malignant fibrous histiocytoma Myxoid/round cell liposarcoma Myxoma with fibrous dysplasia Myxoma-spotty pigmentationendocrine overactivity syndrome Myxopapillary ependymoma N syndrome N-acetyl-alpha-glucosaminidase deficiency N-acetylgalactosamine 4-sulfatase deficiency N-acetylgalactosamine-6-sulfate sulfatase deficiency N-acetylglucosamine 1phosphotransferase deficiency N-acetylglucosaminyltransferase 2 deficiency N-acyl-L-amino acid amidohydrolase deficiency Na-H exchange deficiency Nablus mask-like facial syndrome NAE Naegeli syndrome Naegeli-Franceschetti-Jadassohn syndrome Naevus syringocystadenomatosus papilliferus NAFD NAGA deficiency NAGA deficiency type 1 NAGA deficiency type 2 NAGA deficiency type 3



118

ORPHA Disease name number 245 Nager acrofacial dysostosis 245 Nager syndrome 927 NAGS deficiency 2211

423454

→1487 2614 2613 158676 853 101 2229 1063 2615 2822 44 206569 →1359 383 627 251279 35612 85196 247868 83465 2073 644 141103 141103 141219 141118 141115 141112 141112 86879 2662 141083 141083 2399 150 141107 2770 1654 2663

Naguib-Richieri-Costa syndrome Nail and teeth abnormalitiesmarginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail dysplasia-camptodactylybrachydactyly type B syndrome Nail-patella syndrome Nail-patella-like renal disease Nails-only DEB NAIT Naito-Oyanagi disease Najjar syndrome Nakagawa angioblastoma Nakajo-Nishimura syndrome Nakamura-Osame syndrome NALD NAM NAME syndrome Nance deafness Nance-Horan syndrome Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Nanophthalmia NAO syndrome NAPS12 Narcolepsy without cataplexy Narcolepsy-cataplexy syndrome NARP syndrome Nasal dermoid cyst Nasal dermoid sinus cyst Nasal dorsum fistula/cyst Nasal encephalocele Nasal ganglioglioma Nasal glial heterotopia Nasal glioma Nasal T/natural killer-cell lymphoma Nasodigitoacoustic syndrome Nasolacrimal duct cyst Nasolacrimal mucocele Nasopalpebral lipoma-coloboma syndrome Nasopharyngeal carcinoma Nasopharyngeal teratoma Nasu-Hakola disease Natal teeth-intestinal pseudoobstruction-patent ductus syndrome Nathalie syndrome

ORPHA Disease name number 168572 Native American myopathy 69739 Navajo brainstem syndrome 255229 Navajo neurohepatopathy 255229 Navajo neuropathy 34217 Naxos disease 377

NBCCS

157850 NBIA1 216873 NBIA1, atypical form 216866 NBIA1, classic form 289560 NBIA4 329284 NBIA5 397725 NBIA6 289560 NBIA due to C19orf12 mutation 647 NBS 240760 NBS-like disorder 240760 NBSLD 217560 NCHI 1947 NCL, Northern epilepsy variant 2481 NCM 75327 91495 443162 1398 399103 158011 439196 391673 440368 217560 464366 199244 217563

217563 44 398109 398109 464370 398097 398097 398109 137929 314911 313906 398117

NCMD NCRNA disease NDE1-related microhydranencephaly Near total absence of cerebellum Nebulin-related early-onset distal myopathy Necrobiotic xanthogranuloma Necrolytic acral erythema Necrotizing enterocolitis Necrotizing soft tissue infection NEHI NEK9-related lethal skeletal dysplasia Nelson syndrome Neonatal acute respiratory distress due to SP-B deficiency Neonatal acute respiratory distress due to surfactant protein B deficiency Neonatal adrenoleukodystrophy Neonatal AHA Neonatal AIHA Neonatal alloimmune neutropenia Neonatal antiphospholipid antibody syndrome Neonatal antiphospholipid syndrome Neonatal autoimmune hemolytic anemia Neonatal brainstem dysfunction Neonatal Canavan disease Neonatal congenital pancreatic cyst Neonatal dermatomyositis

ORPHA number

79118

398117 457185

69063 69063 289857 446 398097 137577 59303 294023 247598 247598 238688 398124 284979 69063

69063 284979 79242 391504 →42738 289857 289857 56304 3455 70587 3206 398127 466784

417 1451

Disease name

Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosispolycystic kidneys syndrome Neonatal DM Neonatal encephalomyopathycardiomyopathy-respiratory distress syndrome Neonatal glomerulopathy due to Neprilysin alloimmunization Neonatal glomerulopathy due to neprilysin alloimmunization Neonatal glycine encephalopathy Neonatal hemochromatosis Neonatal Hughes syndrome Neonatal hypoxic and ischemic brain injury Neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal inflammatory skin and bowel disease Neonatal intrahepatic cholestasis caused by citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal iodine exposure Neonatal lupus erythematosus Neonatal Marfan syndrome Neonatal membranous glomerulopathy with maternal NEP deficiency Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency Neonatal MFS Neonatal multiple carboxylase deficiency Neonatal myasthenia gravis Neonatal neutropenia Neonatal NKH Neonatal non-ketotic hyperglycinemia Neonatal osseous dysplasia type 1 Neonatal progeroid syndrome Neonatal respiratory distress syndrome Neonatal Schwartz-Jampel syndrome Neonatal scleroderma Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect Neonatal severe primary hyperparathyroidism Neonatal-onset multisystem inflammatory disease



119

ORPHA number 314950 94058 654 2849 223 3145 137617 93606 137617 93622 93623 655 3156 84081 411629 2668 2669 2065

300333

300333 2337 280576 100082 100080 634 2671 99078 2479 3350 2672 2901 2901 351 268865 252164 93921

Disease name

Neoplastic hypereosinophilic syndrome Neovascular glaucoma Nephroblastoma Nephroblastomatosis-fetal ascitesmacrosomia-Wilms tumor syndrome Nephrogenic diabetes insipidus Nephrogenic diabetes insipidusintracranial calcification syndrome Nephrogenic fibrosing dermopathy Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic systemic fibrosis Nephrolithiasis type 1 Nephrolithiasis type 2 Nephronophthisis Nephronophthisis with retinal dystrophy Nephronophthisis-hepatic fibrosis syndrome Nephropathic infantile cystinosis Nephropathy-deafnesshyperparathyroidism syndrome Nephrosis-deafness-urinary tractdigital malformations syndrome Nephrosis-neuronal dysmigration syndrome Nephrotic syndrome-deafnesspretibial epidermolysis bullosa syndrome Nephrotic syndrome-hearing losspretibial epidermolysis bullosa syndrome NEPPK Nestor-Guillermo progeria syndrome NET of the anal canal NET of the colon Netherton syndrome Neu-Laxova syndrome Neuhauser anomaly Neuhäuser syndrome Neuhauser-Daly-Magnelli syndrome Neuhauser-Eichner-Opitz syndrome Neuralgic amyotrophy Neuralgic shoulder amyotrophy Neuraminidase deficiency with beta-galactosidase deficiency Neurenteric cyst Neurilemmoma Neurilemmomatosis

ORPHA Disease name number 252164 Neurilemoma 635 Neuroblastoma 2481 2481 35664

88639

289560

397725

157850

216873

216866

289560 329284

217382

453499

352665

453504

3474 33445 3474 2676 217560 100082 100080

Neurocutaneous melanocytosis Neurocutaneous melanosis Neurocutaneous syndrome, Bicknell type Neurodegeneration due to 3hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation due to COASY mutation Neurodegeneration with brain iron accumulation type 1 Neurodegeneration with brain iron accumulation type 1, atypical form Neurodegeneration with brain iron accumulation type 1, classic form Neurodegeneration with brain iron accumulation type 4 Neurodegeneration with brain iron accumulation type 5 Neurodegenerative syndrome due to cerebral folate transport deficiency Neurodevelopmental disordercraniofacial dysmorphism-cardiac defect-hip dysplasia syndrome Neurodevelopmental disordercraniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion Neurodevelopmental disordercraniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation Neuroectodermal dysplasia, CHIME type Neuroectodermal melanolysosomal disease Neuroectodermal syndrome, Zunich type Neuroectodermal-endocrine syndrome Neuroendocrine cell hyperplasia of infancy Neuroendocrine neoplasm of the anal canal Neuroendocrine neoplasm of the colon

ORPHA number 100082 100079 100080 100081 2677 2673 157846 252183 137605 636 363700

97685 638 637 93921 2678 638 3148 970 1143 100073 100073 178029 644 98593 3148 431255 85146 100073 100073 100073 94093 36397 163746 137754

Disease name

Neuroendocrine tumor of the anal canal Neuroendocrine tumor of the appendix Neuroendocrine tumor of the colon Neuroendocrine tumor of the rectum Neuroepithelioma Neurofaciodigitorenal syndrome Neuroferritinopathy Neurofibroma Neurofibromatosis 1-like syndrome Neurofibromatosis type 1 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1-Noonan syndrome Neurofibromatosis type 2 Neurofibromatosis type 3 Neurofibromatosis type 6 Neurofibromatosis-Noonan syndrome Neurofibrosarcoma Neurogenic acroosteolysis Neurogenic arthrogryposis multiplex congenita Neurogenic cervical rib syndrome Neurogenic costoclavicular syndrome Neurogenic diabetes insipidus Neurogenic muscle weaknessataxia-retinitis pigmentosa syndrome Neurogenic palpebral tumor Neurogenic sarcoma Neurogenic scapuloperoneal amyotrophy, New England type Neurogenic scapuloperoneal syndrome, Kaeser type Neurogenic thoracic outlet compression syndrome Neurogenic thoracic outlet syndrome Neurogenic TOS Neuroleptic malignant syndrome Neurolipomatosis Neurologic Waardenburg-Shah syndrome Neurological conditions associated with aminoacylase 1 deficiency



120

ORPHA Disease name number 206586 Neurolymphomatosis 71211 Neuromyelitis optica 1947 99811 2289

639

139512 644 217622 217622 137596 137596 98907 98908 98908 →86872

2690 183707 169142 575 370059 →1359 →1900 377 228264 64754 228254 370059

263432 263425 263432 263425 2612

Neuronal ceroid lipofuscinosis, Northern epilepsy variant Neuronal intestinal pseudoobstruction Neuronal intranuclear inclusion disease Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein Neuropathy with hearing impairment Neuropathy-ataxia-retinitis pigmentosa syndrome Neurosensory deafness with dilated cardiomyopathy Neurosensory hearing loss with dilated cardiomyopathy Neurotrophic keratitis Neurotrophic keratopathy Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage myopathy Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome Neutropenia-monocytopeniadeafness syndrome Neutrophil immunodeficiency syndrome Neutrophil-specific granule deficiency Neutrophilic urticaria NEVADA syndrome Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome Nevo syndrome Nevoid basal cell carcinoma syndrome Nevus anelasticus Nevus comedonicus syndrome Nevus elasticus Nevus epidermicus verrucosus with angiodysplasia and aneurysms Nevus fuscocaeruleus acromiodeltoideus Nevus fusculoceruleus ophthalmomaxillaris Nevus of Ito Nevus of Ota Nevus sebaceus of Jadassohn

ORPHA Disease name number 2612 Nevus sebaceus syndrome 363558 83471 636 97685 137605 637 93921 2678 69087 638 91349 401869 289356 404454 404454 280576 2770 169079 276608 247598 141179 3051 77292 77293 646 216986 216981 216981 216978

216975

216972 →646 99022 →646 2633 1390 98757 432 2322 647 240760 447731

New-onset refractory status epilepticus Nezelof syndrome NF1 NF1 microdeletion syndrome NF1-like syndrome NF2 NF3 NF6 NFJ syndrome NFNS NFPA NFU1 deficiency NGCO NGLY1 deficiency NGLY1-CDDG NGPS NHD NHEJ1 deficiency NI-PHH NICCD NICH Nicolaides-Baraitser syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, classic form Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type D Niemann-Pick disease type E Niemann-Pick disease, Nova Scotia type Nievergelt syndrome Night blindness-skeletal anomalies-dysmorphism syndrome Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia nIHH Niikawa-Kuroki syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder NIK deficiency

ORPHA Disease name number 781 Nine Mile fever 99825 Nipah encephalitis 99825 Nipah fever 99825 59303 1422 263665 86873 86873 86879 407 86879 86893 436166

436166

436166

436166 436166 247868 98907 98908 443167 391504 86867 2615 1884 31204 →98784 86867 137810 477742 90393 86893 2149 33577 48372 158772 85196 2700 1451

Nipah virus disease NISCH syndrome Nivelon-Nivelon-Mabille syndrome NK-cell enteropathy NK-cell large granular lymphocyte leukemia NK-cell LGL leukemia NK/T-cell lymphoma NKA NKTCL NLPHL NLRC4-related autoinflammatory syndrome with macrophage activation syndrome NLRC4-related autoinflammatory syndrome with MAS NLRC4-related infantile enterocolitis-autoinflammatory syndrome NLRC4-related macrophage activation syndrome NLRC4-related MAS NLRP12-associated hereditary periodic fever syndrome NLSDI NLSDM NMC NMG NMZL NNS Noble-Bass-Sherman syndrome Nocardiosis Nocturnal paroxysmal dystonia Nodal marginal zone B-cell lymphoma Nodular cutaneous amyloidosis Nodular fasciitis Nodular lichen myxedematosus Nodular lymphocyte predominant Hodgkin lymphoma Nodular neuronal heterotopia Nodular non-suppurative panniculitis Nodular regenerative hyperplasia of the liver Nodular urticaria pigmentosa Nodulosis-arthropathy-osteolysis syndrome Noma NOMID syndrome



121

ORPHA number 73267

231720

231720

631 97566 97566 86861 86861

79394 289362 77259 48372 854

325529

289362 216796 96136 1581 96160 96164 96112 1695 1702 96136 1581 96160 96164 3306 96112 1695 1702 329469 206538 363494

Disease name

Non-24-hour sleep-wake syndrome Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired isolated growth hormone deficiency Non-amyloid fibrillary glomerulonephritis Non-amyloid fibrillary glomerulopathy Non-amyloid MIDD Non-amyloid monoclonal immunoglobulin deposition disease Non-bullous congenital ichthyosiform erythroderma Non-central nervous systemlocalized embryonal carcinoma Non-cerebral juvenile Gaucher disease Non-cirrhotic nodulation Non-cirrhotic portal vein thrombosis Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Non-CNS-localized embryonal carcinoma Non-deforming osteogenesis imperfecta Non-distal deletion 7p Non-distal deletion 10q Non-distal deletion 12q Non-distal deletion 20q Non-distal duplication 9q Non-distal duplication 10q Non-distal duplication 13q Non-distal monosomy 7p Non-distal monosomy 10q Non-distal monosomy 12q Non-distal monosomy 20q Non-distal tetrasomy 15q Non-distal trisomy 9q Non-distal trisomy 10q Non-distal trisomy 13q Non-DS-AMKL Non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell tumor of testis

ORPHA number 2337 →2199 2972 100070 94080 91349

26137

→79452 →90186 357034 163924 329883

329918 329918 363999 363999 363999 363999 329918

329918 263548 263548 141179 407 98890 411641 84085 209989 209989 238583 79651 →144 314647

Disease name

Non-epidermolytic palmoplantar keratoderma Non-epidermolytic palmoplantar keratoderma Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Non-fluent variant PPA Non-functioning paraganglioma Non-functioning pituitary adenoma Non-giant cell granulomatous temporal arteritis with eosinophilia Non-hereditary congenital primary lymphedema Non-hereditary late-onset primary lymphedema Non-hereditary retinoblastoma Non-herpetic acute limbic encephalitis Non-hypoproteinemic hypertrophic gastropathy Non-Ig-mediated membranoproliferative glomerulonephritis Non-Ig-mediated MPGN Non-immune fetal edema Non-immune fetal hydrops Non-immune HF Non-immune hydrops fetalis Non-immunoglobulin-mediated membranoproliferative glomerulonephritis Non-immunoglobulin-mediated MPGN Non-inflammatory generalized peeling skin syndrome type A. Non-inflammatory peeling skin syndrome type A Non-involuting congenital hemangioma Non-ketotic hyperglycinemia Non-Leber type optic atrophy with early-onset Non-nephropathic cystinosis Non-neurogenic neurogenic bladder Non-papillary transitional cell carcinoma of the bladder Non-papillary urothelial carcinoma Non-phenylketonuric hyperphenylalaninemia Non-PKU HPA Non-polyposis Turcot syndrome Non-progressive cerebellar ataxia with intellectual disability

ORPHA number 1766

436271

439202 439202 439202 101106 94080 363494 91364 91364 206572 90031 35099 30391 91495 49042 49042 87884 276234 276234 3366 35093 35098 96136 1581 96160 96164 3306 96112 1695 1702 411703 209919 602 79452 648

Disease name

Non-progressive cerebellar ataxiaintellectual disability syndrome Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy Non-recovering OBPI Non-recovering OBPL Non-recovering obstetric brachial plexus lesion Non-secreting chemodectoma Non-secreting paraganglioma Non-seminomatous germ cell tumor of testis Non-specific idiopathic interstitial pneumonia Non-specific interstitial pneumonia Non-specific myositis Non-spherocytic hemolytic anemia due to hexokinase deficiency Non-syndromic bicoronal synostosis Non-syndromic biliary atresia Non-syndromic congenital retinal non-attachment Non-syndromic dentinogenesis imperfecta Non-syndromic DGI Non-syndromic genetic deafness Non-syndromic male infertility due asthenozoospermia Non-syndromic male infertility due to sperm motility disorder Non-syndromic metopic craniosynostosis Non-syndromic sagittal synostosis Non-syndromic unicoronal synostosis Non-telomeric monosomy 7p Non-telomeric monosomy 10q Non-telomeric monosomy 12q Non-telomeric monosomy 20q Non-telomeric tetrasomy 15q Non-telomeric trisomy 9q Non-telomeric trisomy 10q Non-telomeric trisomy 13q Non-tuberculous mycobacterial lung disease Non-Wilsonian hepatic copper toxicosis of infancy and childhood Nonaka myopathy Nonne-Milroy lymphedema Noonan syndrome



122


363972

2701 230 230 314928 2254 79255 →682 →682 →682 812 →682 432 432 649 649 363558 75327 75327 280620 1947 79293 178 2703 314928 3032 480476 634 88616 2701 417 93606 91364 454840 454840 454840 100073 314790 280234 443167 54

Disease name

Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with JMML Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Noradrenaline deficiency Norepinephrine deficiency Normal pressure hydrocephalus Norman disease Norman-Landing disease Normokalemic periodic paralysis Normokalemic PP NormoKPP Normomorphic sialidosis NormoPP Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Norrie disease Norrie-Warburg disease NORSE North Carolina macular dystrophy North Carolina macular dystrophy, retinal 1 North Sea progressive myoclonus epilepsy Northern epilepsy Norum disease Notochordal sarcoma Nova syndrome NPH NPHP3-related Meckel-like syndrome NR1H4 deficiency NS NS-ARID NS/LAH NSHPT NSIAD NSIP NTHL1-related AFAP NTHL1-related attenuated familial adenomatous polyposis NTHL1-related attenuated FAP NTOS Null pituitary adenoma Null syndrome NUT midline carcinoma OA1

ORPHA number 398156 OAFNS 1106 OAS 374 374 97297 397615 66628 179494 71529 71526 71528 369873 88643 1303 64743 2970 3411 352731 352734 352737 79431 79434 79432 79433 79435 370091 370097 352745 217017 268823 198 280640 280640 280640 353351 51608 1647 99889 247834 84085 2704 247834 534

Disease name

OAV dysplasia OAVS Oberklaid-Danks syndrome Obesity due to CEP19 deficiency Obesity due to congenital leptin deficiency Obesity due to leptin receptor gene deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to proopiomelanocortin deficiency Obesity due to prohormone convertase I deficiency Obesity due to SIM1 deficiency Obesity-colitis-hypothyroidismcardiac hypertrophydevelopmental delay syndrome Obliterative bronchiolitis Obliterative portal venopathy Obrinsky syndrome Obstructed hemivagina and ipsilateral renal anomaly OCA1 OCA1-MP OCA1-TS OCA1A OCA1B OCA2 OCA3 OCA4 OCA5 OCA6 OCA7 Occipital atretic cephaloceleunusual facies-large feet syndrome Occipital encephalocele Occipital horn syndrome Occipital malformations of cortical development Occipital MCD Occipital pachygyria and polymicrogyria Occlusive idiopathic juxtafoveolar retinal telangiectasis Occlusive infantile arteriopathy OCCS Occult ectopic ACTH secretion Occult macular dystrophy Occult neuropathic bladder Ochoa syndrome OCMD OCR

ORPHA Disease name number 534 OCRL 664 OCT deficiency 54

Ocular albinism type 1 Ocular albinism with congenital 352740 sensorineural deafness Ocular albinism with late-onset 1000 sensorineural deafness Ocular albinism, Nettleship-Falls 54 type 411641 Ocular cystinosis Ocular form of osteogenesis 2788 imperfecta 1125 Ocular motor apraxia, Cogan type 99922 Ocular pemphigoid 534 Oculo-cerebro-renal dystrophy 534 Oculo-cerebro-renal syndrome Oculo-digito-esophageal-duodenal 1305 syndrome Oculo-digito-esophageal-duodenal 391641 syndrome type 1 →1200 Oculo-oto-facial dysplasia 2307 Oculo-oto-radial syndrome 2714 Oculo-palato-cerebral dwarfism 2714 Oculo-palato-cerebral syndrome Oculo-skeletal-abdominal →293843 syndrome 2716 Oculo-skeletal-renal syndrome Oculoauricular syndrome, 157962 Schorderet type Oculoauriculofrontonasal 398156 syndrome 374 Oculoauriculovertebral dysplasia Oculoauriculovertebral spectrum 2549 with radial defects 374 Oculoauriculovertebral syndrome 2705 Oculocerebral dysplasia Oculocerebral hypopigmentation 2719 syndrome, Cross type Oculocerebral hypopigmentation 2720 syndrome, Preus type 1647 Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, 2707 Kaufman type 534 Oculocerebrorenal dystrophy Oculocerebrorenal syndrome of 534 Lowe 352731 Oculocutaneous albinism type 1 79431 Oculocutaneous albinism type 1A 79434 Oculocutaneous albinism type 1B 79432 Oculocutaneous albinism type 2 79433 Oculocutaneous albinism type 3 79435 Oculocutaneous albinism type 4 370091 Oculocutaneous albinism type 5 370097 Oculocutaneous albinism type 6 352745 Oculocutaneous albinism type 7



123

ORPHA number

Disease name

Oculocutaneous albinism, Amish type 28378 Oculocutaneous tyrosinemia Oculodental syndrome, 2709 Rutherfurd type 2710 Oculodentodigital dysplasia 2710 Oculodentoosseous dysplasia 3339 Oculoectodermal syndrome 2712 Oculofaciocardiodental syndrome Oculogastrointestinal muscular 1876 dystrophy 2108 Oculomandibulofacial syndrome 1794 Oculomaxillofacial dysostosis 1154 Oculomelic amyoplasia 1125 Oculomotor apraxia, Cogan type 2713 Oculoosteocutaneous syndrome 99806 Oculootodental syndrome →293843 Oculopalatoskeletal syndrome 98897 Oculopharyngeal distal myopathy Oculopharyngeal muscular 270 dystrophy 98897 Oculopharyngodistal myopathy 2715 Oculorenocerebellar syndrome 2717 Oculotrichoanal syndrome 2718 Oculotrichodysplasia 166272 ODCD 2710 ODDD syndrome 1305 ODED syndrome 391641 ODED syndrome type 1 999 O'Doherty syndrome 2253 O'Donnell-Pappas syndrome Odonto-onycho dysplasia-alopecia 2722 syndrome 2721 Odonto-onycho-dermal dysplasia Odonto-onycho-hypohidrotic →2036 dysplasia-midline scalp defects syndrome Odonto-tricho-ungual-digito69082 palmar syndrome Odonto-tricho-ungual-digito69082 palmar syndrome, MendozaValiente type 166272 Odontochondrodysplasia 447777 Odontogenic keratocystoma 247685 Odontohypophosphatasia 77295 Odontoleukodystrophy Odontomatosis-aortae esophagus 2724 stenosis syndrome 1811 Odontomicronychial dysplasia 2723 Odontotrichomelic syndrome 1487 ODP 93929 OEIS complex Oerter-Friedman-Anderson 2676 syndrome 2792 OFC syndrome 79434

ORPHA Disease name number 2712 OFCD syndrome 488265 OFD 2750 2751 2752 2753 2919 2754 →2750 2755 141007 2756 141000 141327 141330 434179 2750 2750 391655 424080 276432 75382 75382 1186 2728 2728 64739 1934 3411 666 216796 216804 216812 216820 216828 2729 93293 261638 261647 261638 261638 69088 →113 478 1957 85410

OFD1 OFD2 OFD3 OFD4 OFD5 OFD6 OFD7 OFD8 OFD9 OFD10 OFD11 OFD12 OFD13 OFD14 OFDI OFDSI Off-periods in Parkinson disease not responding to oral treatment OGCT of pancreas Ogden syndrome Oguchi disease Oguchi syndrome Ohaha syndrome Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome OHSS Ohtahara syndrome OHVIRA syndrome OI OI type 1 OI type 2 OI type 3 OI type 4 OI type 5 Okamoto syndrome Okihiro syndrome Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to a point mutation Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to monosomy 20q13 OL-EDA-ID Oley syndrome Olfacto-genital pathological sequence Olfactory neuroblastoma Oligoarticular JIA

ORPHA number 247839 247846 85410

247839

247846 251656 75378 75378 251627 99798 300576 2260 2260 137831 2920 3363 2732 166063 296 659 1183 247834 39041 2741 2733 660 3164

93929

496693 490 210115 1183 319266 3191 2737 137675 352540 352540 661

Disease name

Oligoarticular JIA with anti-nuclear antibodies Oligoarticular JIA without antinuclear antibodies Oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Oligoastrocytoma Oligocone syndrome Oligocone trichromacy Oligodendroglioma Oligodontia Oligodontia-cancer predisposition syndrome Oligomeganephronia Oligomeganephronic renal hypoplasia Oligophrenin-1 syndrome Oliver syndrome Oliver-McFarlane syndrome Olivopontocerebellar atrophydeafness syndrome Olivopontocerebellar hypoplasia Ollier disease Olmsted syndrome OMA syndrome OMD Omenn syndrome OMM syndrome Omodysplasia Omphalocele Omphalocele syndrome, Shprintzen-Goldberg type Omphalocele-cloacal exstrophyimperforate anus-spinal defect syndrome Omphalocele-diaphragmatic hernia-cardiovascular anomaliesradial ray defect syndrome Omphalomesenteric cyst OMPP OMS Omsk hemorrhagic fever Onat syndrome Onchocerciasis Oncocytic cardiomyopathy Oncogenic hypophosphatemic osteomalacia Oncogenic osteomalacia Ondine curse



124

ORPHA Disease name number 661 Ondine syndrome 99803 Ondine-Hirschsprung disease 99803

Ondine-Hirschsprung syndrome

→33364 ONMR syndrome 238744 →33364 300504 79153 300512 2614 2786 99806 2721 98890 67036 49042 49042 90650 90652 90650 90652 98897 268363 137831 1106 2741

1186

2743 1308 2745 2745 1308 1308 97297 1786 2745 93932 270 499107 256 2788 2746 1183 1183

Onycho-digito-mammary syndrome Onycho-tricho-dysplasianeutropenia syndrome Onychocytic matricoma Onychodystrophy totalis Onychomatricoma Onychoosteodysplasia OOCHS OOD OODD OPA2 OPA3, autosomal dominant Opalescent teeth without OI Opalescent teeth without osteogenesis imperfecta OPD I syndrome OPD II syndrome OPD syndrome 1 OPD syndrome 2 OPDM Open iniencephaly OPHN1 syndrome Ophthalmoacromelic syndrome Ophthalmomandibulomelic dysplasia Ophthalmoplegia-hypotoniaataxia-hypoacusis-athetosis syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Opitz C trigonocephaly Opitz G/BBB syndrome Opitz syndrome Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome Opitz trigonocephaly-like syndrome Opitz-Caltabiano syndrome Opitz-Frias syndrome Opitz-Kaveggia syndrome OPMD OPN Oppenheim dystonia OPPG Opsismodysplasia Opsoclonus-myoclonus syndrome Opsoclonus-myoclonus-ataxia syndrome

ORPHA number 363746 98673 98890 1215

401777

→1215

496790

313800 2086 499107 353253 31142 357154 457252 2750 2751 2752 2753 2919 2754 →2750 2755 141007 2756 141000 141327 141330 434179 141007 2755 141000 500062 1647 52994 268139 2612

Disease name

Optic ataxia-gaze apraxiasimultanagnosia syndrome Optic atrophy type 1 Optic atrophy type 2 Optic atrophy-deafnesspolyneuropathy-myopathy syndrome Optic atrophy-intellectual disability syndrome Optic atrophy-ophthalmoplegiaptosis-deafness-myopathy syndrome Optic atrophy-peripheral neuropathy-developmental delay syndrome Optic nerve edema-splenomegaly syndrome Optic pathway glioma Optic perineuritis Oral dysesthesia Oral erosive lichen Oral submucous fibrosis Oral tongue squamous cell carcinoma Oral-facial-digital syndrome type 1 Oral-facial-digital syndrome type 2 Oral-facial-digital syndrome type 3 Oral-facial-digital syndrome type 4 Oral-facial-digital syndrome type 5 Oral-facial-digital syndrome type 6 Oral-facial-digital syndrome type 7 Oral-facial-digital syndrome type 8 Oral-facial-digital syndrome type 9 Oral-facial-digital syndrome type 10 Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome type 12 Oral-facial-digital syndrome type 13 Oral-facial-digital syndrome type 14 Oral-facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome, Edwards type Oral-facial-digital syndrome, Gabrielli type ORAS Orbital cyst with cerebral and focal dermal malformations Orbital leiomyoma Orbital medulloepithelioma Organoid nevus syndrome

ORPHA Disease name number 166421 Orgasm-induced seizures 49041 Ormond disease

Ornithine aminotransferase deficiency Ornithine carbamoyltransferase 664 deficiency 415 Ornithine carrier deficiency Ornithine transcarbamylase 664 deficiency 415 Ornithine translocase deficiency 415 ORNT1 deficiency 2319 Orocraniodigital syndrome 353253 Orodynia 2750 Orofaciodigital syndrome type 1 2751 Orofaciodigital syndrome type 2 2752 Orofaciodigital syndrome type 3 2753 Orofaciodigital syndrome type 4 2919 Orofaciodigital syndrome type 5 →2750 Orofaciodigital syndrome type 7 2755 Orofaciodigital syndrome type 8 141007 Orofaciodigital syndrome type 9 2756 Orofaciodigital syndrome type 10 141000 Orofaciodigital syndrome type 11 141327 Orofaciodigital syndrome type 12 141330 Orofaciodigital syndrome type 13 434179 Orofaciodigital syndrome type 14 Orofaciodigital syndrome with 2756 fibular aplasia Orofaciodigital syndrome with 141007 retinal abnormalities Orofaciodigital syndrome, 2755 Edwards type Orofaciodigital syndrome, 141000 Gabrielli type Orofaciodigital syndrome, 2919 Thurston type 93958 Oromandibular dystonia 141077 Oropharyngeal teratoma 30 Oroticaciduria Orotidylic decarboxylase 30 deficiency 64692 Oroya fever Orthostatic intolerance due to NET 443236 deficiency →293843 OSA syndrome 93382 Osebold-Remondini syndrome 97335 Osgood-Schlatter disease 2760 OSLAM syndrome 729 Osler-Vaquez disease 1427 OSMED 357154 OSMF 140436 Osseous venous malformation Ossification anomalies73230 psychomotor developmental delay syndrome 414



125

ORPHA Disease name number 57196 Osteitis condensans of the clavicle 58040 Osteoblastoma 2764 251262 3314 2054 2380 97332 97335

2653

2653 800 2768 97337 3314 2380 97336 97332 2054 97335 424080 2763 2763 488265 666 216796 216804 216812 216820 216828 2771

2773 668 2645

Osteochondritis dissecans Osteochondritis dissecans and short stature Osteochondritis of phalangeal epiphyses Osteochondritis of tarsal/metatarsal bone Osteochondritis of the capital femoral epiphysis Osteochondritis of the lunate bone Osteochondritis of the tibial tubercle Osteochondrodysplatic dwarfismdeafness-retinitis pigmentosa syndrome Osteochondrodysplatic nanismdeafness-retinitis pigmentosa syndrome Osteochondromuscular dystrophy Osteochondrosis deformans tibiae Osteochondrosis of patella Osteochondrosis of phalangeal epiphyses Osteochondrosis of the capital femoral epiphysis Osteochondrosis of the capital humerus Osteochondrosis of the lunate bone Osteochondrosis of the tarsal bone Osteochondrosis of the tibial tubercle Osteoclastic giant cell tumor of pancreas Osteocraniosplenic syndrome Osteocraniostenosis Osteofibrous dysplasia Osteogenesis imperfecta Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenesis imperfectacongenital joint contractures syndrome Osteogenesis imperfectaretinopathy-seizures-intellectual disability syndrome Osteogenic sarcoma Osteoglophonic dwarfism

ORPHA Disease name number 2645 Osteoglosphonic dysplasia 2777 Osteomesopyknosis 824 399293 2780

2779

2324

91133

53 2785

178389

94063

2787

2786 2788 666 668 2760 178377

75325

500548 2905 1338 99965 664 1308 2791 2791 2792 141136 141136 2793 669 90650

Osteomyelofibrosis Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia-intellectual disabilitysparse hair syndrome Osteopenia-myopia-hearing lossintellectual disability-facial dysmorphism syndrome Osteopetrosis autosomal dominant type 2 Osteopetrosis with renal tubular acidosis Osteopetrosishypogammaglobulinemia syndrome Osteopoikilosis-short statureintellectual disability syndrome Osteoporosis-macrocephalyblindness-joint hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteopsathyrosis Osteosarcoma Osteosarcoma-limb anomalieserythroid macrocytosis syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosispremature ovarian failure syndrome Osteosclerotic metaphyseal dysplasia Osteosclerotic myeloma Ostravik-Lindemann-Solberg syndrome O'Sullivan-McLeod syndrome OTC deficiency OTCS Otodental dysplasia Otodental syndrome Otofaciocervical syndrome Otomandibular dysostosis Otomandibular syndrome Otoonychoperoneal syndrome Otopalatodigital syndrome Otopalatodigital syndrome type 1

ORPHA Disease name number 90652 Otopalatodigital syndrome type 2 1427 457252 69082 500062 500062 500062 50943 1179 213504 213512 398971 314473 314478 64739 398987 213512 213512 99916 398987 398961 99916 206473 99853 498488 137634

498485

3203 206572 326 832 31 33572 79302 36355 35664 35120 98971 2796

Otospondylomegaepiphyseal dysplasia OTSCC OTUDP syndrome OTULIN deficiency OTULIN-related autoinflammatory syndrome Otulipenia Oudtshoorn disease Ouvrier-Billson syndrome Ovarian adenocarcinoma Ovarian carcinosarcoma Ovarian clear cell adenocarcinoma Ovarian fibroma Ovarian fibrothecoma Ovarian hyperstimulation syndrome Ovarian immature teratoma Ovarian malignant mixed epithelial mesenchymal tumor Ovarian malignant mixed Müllerian tumor Ovarian malignant Sertoli-Leydig cell tumor Ovarian malignant teratoma Ovarian mucinous adenocarcinoma Ovarian Sertoli-Leydig cell cancer Ovarian tumor of low malignant potential Ovarioleukodystrophy Overgrowth syndrome with 2q37 translocations Overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome Overhydrated hereditary stomatocytosis Overlap myositis Owren disease OXCT1 deficiency Oxoglutaricaciduria Oxoprolinuria due to oxoprolinase deficiency Oxysterol 7-alpha-hydroxylase deficiency P2Y12 defect P5CS deficiency P5N deficiency PACD Pachydermoperiostosis



126

ORPHA number 2798 2309 1952 140989 477749 441 95232 180275 180275 357131 52430 52430 178517 180275 991 2802 716 1993 37202 324636 99736 99736 64686 300501 90797 477993

477993

1388 163921 171695 3138 672 884 2804 737 2184 659 34217 140966

Disease name

Pachygyria-intellectual disabilityepilepsy syndrome Pachyonychia congenita Pacman dysplasia PACNS PADMAL PAF PAFAH1B1-related lissencephaly Paget disease of the breast Paget disease of the nipple Paget-Schrotter disease Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal syndrome Pagetoid reticulosis, WoringerKolopp type Paget's disease of the nipple PAGOD syndrome Pagon-Bird-Detter syndrome PAH deficiency Pai syndrome Painful bladder syndrome Painful bruising syndrome Painful congenital myotonia Painful myotonia Painful ophthalmoplegia Painful orbital and systemic neurofibromas-marfanoid habitus syndrome PAIS Palatal anomalies-multiple diastemata-facial dysmorphismdevelopmental delay syndrome Palatal anomalies-widely spaced teeth-facial dysmorphismdevelopmental delay syndrome Palatodigital syndrome, CatelManzke type PALE Pallidopyramidal syndrome Pallister ulnar-mammary syndrome Pallister-Hall syndrome Pallister-Killian syndrome Pallister-W syndrome Palmar, plantar and disseminated porokeratosis Palmer-Pagon syndrome Palmoplantar and periorificial keratoderma Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy Palmoplantar hyperkeratosis, Nagashima type

ORPHA number

Disease name

Palmoplantar hyperkeratosis50944 cystic eyelids-hypodontia2202 2198 2202

2342

384 2201

85112

1010

1366 34217 →2199 140966 86919

50944

2202 2198 2202

2342

384 2201

85112

→79502 163927

hypotrichosis syndrome Palmoplantar hyperkeratosisdeafness syndrome Palmoplantar hyperkeratosisesophageal carcinoma syndrome Palmoplantar hyperkeratosishearing loss syndrome Palmoplantar hyperkeratosisperiodontopathia-onychogryposis syndrome Palmoplantar hyperkeratosissclerodactyly syndrome Palmoplantar hyperkeratosisspastic paralysis syndrome Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar keratoderma and congenital alopecia, Stevanovic type Palmoplantar keratoderma and congenital alopecia, Wallis type Palmoplantar keratoderma with arrythmogenic cardiomyopathy Palmoplantar keratoderma with tonotubular keratin Palmoplantar keratoderma, Nagashima type Palmoplantar keratodermaclinodactyly syndrome Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome Palmoplantar keratodermadeafness syndrome Palmoplantar keratodermaesophageal carcinoma syndrome Palmoplantar keratodermahearing loss syndrome Palmoplantar keratodermaperiodontopathia-onychogryposis syndrome Palmoplantar keratodermasclerodactyly syndrome Palmoplantar keratoderma-spastic paralysis syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar porokeratosis of Mantoux Palmoplantar pustulosis

ORPHA Disease name number 767 PAN 98815 Panayiotopoulos syndrome 424046 Pancreatic acinar cell carcinoma 93292 Pancreatic adenoma 65288 Pancreatic and cerebellar agenesis 97282

Pancreatic cholera

309108 Pancreatic colipase deficiency 2255 811 199337 424058 424053 424080 97278 424073 424065 424039 309031 309031

424080 677 317473 401764 66624 95513 90695 97336 90159 157850 440427 69126 213817 213726 251962 146

Pancreatic hypoplasia-diabetescongenital heart disease syndrome Pancreatic insufficiency and bone marrow dysfunction Pancreatic insufficiency-anemiahyperostosis syndrome Pancreatic intraductal papillary mucinous carcinoma Pancreatic mucinous cystadenocarcinoma Pancreatic osteoclastic giant cell tumor Pancreatic polypeptidoma Pancreatic serous cystadenocarcinoma Pancreatic solid pseudopapillary carcinoma Pancreatic squamous cell carcinoma Pancreatic triacylglycerol lipase deficiency Pancreatic triglyceride lipase deficiency Pancreatic undifferentiated carcinoma with osteoclast-like giant cells Pancreatoblastoma Pancytopenia due to IKZF1 mutations Pancytopenia-developmental delay syndrome PANDAS Panhypophysitis Panhypopituitarism Panner disease Panniculitis and localized lipodystrophy Pantothenate kinase-associated neurodegeneration PAP, Reunion island type PAPA syndrome Papillary carcinoma of the cervix uteri Papillary carcinoma of the corpus uteri Papillary glioneuronal tumor Papillary or follicular thyroid carcinoma



127

ORPHA number 319298 319298 251915 1475 2807 2750 678 86819 228264 313936 90395 158008 679 464458 99056 73260 97286 324299 326 141242 684 684 2812 99889 1183 1183 63455 71505 279928 231445 231445 2823 2824 31827 2646 363478 143 443227 2825 268826 251290 251290

Disease name

Papillary renal cell adenocarcinoma Papillary renal cell carcinoma Papillary tumor of the pineal region Papillo-renal syndrome Papilloma of choroid plexus Papillon-Léage-Psaume syndrome Papillon-Lefèvre syndrome Papular atrichia Papular elastorrhexis Papular epidermal nevi with skyline basal cell layers syndrome Papular mucinosis of infancy Papular xanthoma Papulosis atrophican maligna Paracetamol poisoning Parachute tricuspid valve Paracoccidioidomycosis Paraganglioma and gastric stromal sarcoma Paraganglioma-somatostatinomapolycythemia syndrome Parahemophilia Paramedian nasal cleft Paramyotonia congenita Paramyotonia congenita of Von Eulenburg Parana hard-skin syndrome Paraneoplastic Cushing syndrome Paraneoplastic opsoclonusmyoclonus Paraneoplastic opsoclonusmyoclonus-ataxia syndrome Paraneoplastic pemphigus Paraneoplastic retinopathy Paraneoplastic uveitis Paraparetic variant of GBS Paraparetic variant of GuillainBarré syndrome Paraplegia-brachydactyly-coneshaped epiphysis syndrome Paraplegia-intellectual disabilityhyperkeratosis syndrome Paraquat poisoning Parastremmatic dwarfism Paratesticular adenocarcinoma Parathyroid carcinoma Paratyphoid fever PARC syndrome Parietal encephalocele Parietal foramina with clavicular hypoplasia Parietal foramina with cleidocranial dysplasia

ORPHA number 851 306674 199351 90307 171695 314632

178509

97355 90020 90035 53583

98811 46348 157835 →98784 →98784 →98784 98809 98809 31709 →98784 447 98810 98810 1214 574 79087 2805 381 90797 90797 1330 1330 1646 401959

Disease name

Paris-Trousseau thrombocytopenia PARK9 PARK14 Parkes Weber syndrome Parkinsonian-pyramidal syndrome Parkinsonism due to ATP13A2 deficiency Parkinsonism with alveolar hypoventilation and mental depression Parkinsonism with dementia of Guadeloupe Parkinsonism-dementia-ALS complex Paroxysmal cold hemoglobinuria Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Paroxysmal exertion-induced dyskinesia Paroxysmal extreme pain disorder Paroxysmal hemicrania Paroxysmal hypnagogic dyskinesia Paroxysmal hypnagogic dystonia Paroxysmal hypnogenic dyskinesia Paroxysmal kinesigenic choreathetosis Paroxysmal kinesigenic dyskinesia Paroxysmal kinesigenic dyskinesia and infantile convulsions Paroxysmal nocturnal dyskinesia Paroxysmal nocturnal hemoglobinuria Paroxysmal non-kinesigenic dyskinesia Paroxystic non-kinesigenic choreoathetosis Parry-Romberg syndrome Partial 21q monosomy Partial acquired lipodystrophy Partial agenesis of the pancreas Partial albinism-immunodeficiency syndrome Partial androgen insensitivity syndrome Partial androgen resistance syndrome Partial atrioventricular canal Partial atrioventricular canal defect Partial chromosome Y deletion Partial corpus callosum agenesiscerebellar vermis hypoplasia with posterior fossa cysts syndrome

ORPHA Disease name number 98950 Partial cryptophthalmia 90076 79312 261318 261318 101046 101046 2704

744 254693 79292 343 254693 2805 180129 157769 261318 261318 458785 85453 94083 →193 94083 295 1394 42775 289478 1252 1252 2278 3378 →1509 86789 295041 295038 228190

Partial deep dermal and full thickness burns Partial deficiency of methylmalonyl-CoA mutase Partial duplication of chromosome 20p Partial duplication of the short arm of chromosome 20 Partial epilepsy with auditory aura Partial epilepsy with auditory features Partial facial palsy with urinary abnormalities Partial gigantism-nevihemihypertrophy-macrocephaly syndrome Partial hydatidiform mole Partial LCAT deficiency Partial mevalonate kinase deficiency Partial molar pregnancy Partial pancreatic agenesis Partial septate uterus Partial situs inversus Partial trisomy of chromosome 20p Partial trisomy of the short arm of chromosome 20 Partially involuting congenital hemangioma Partington disease Partington syndrome Partington-Anderson syndrome Partington-Mulley syndrome Parvovirus antenatal infection Pascual-Castroviejo syndrome type 1 Pascual-Castroviejo syndrome type 2 PASH syndrome Pashayan syndrome Pashayan-Prozansky syndrome Passwell-Goodman-Siprkowski syndrome Patau syndrome Patella aplasia-coxa vara-tarsal synostosis syndrome Patella aplasia/hypoplasia Patella aplasia/hypoplasia, bilateral Patella aplasia/hypoplasia, unilateral Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome



128

ORPHA number

Disease name

ORPHA number

Patent ductus arteriosus with 46627 facial dysmorphism and abnormal

228190 99108 431341 254531 254525 261304 261304 254525 261304 254525 261304 261304 251004 96190 96191 96192 99324 96334 96194 96195 261524 96194 2976 2976 2439 2439 79136 93126 97563

97563

97564

fifth digits Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Patent foramen ovale Patent urachus Paternal 14q32.2 hypomethylation syndrome Paternal 14q32.2 microdeletion syndrome Paternal 20q13.2-q13.3 microdeletion syndrome Paternal 20q13.2q13.3 microdeletion syndrome Paternal del(14)(q32.2) Paternal del(20)(q13.2q13.3) Paternal monosomy 14q32.2 Paternal monosomy 20q13.2q13.3 Paternal monosomy 20q13.2q13.3 Paternal uniparental disomy of chromosome 1 Paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 7 Paternal uniparental disomy of chromosome 13 Paternal uniparental disomy of chromosome 14 Paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome X Paternal UPD20 Patterson pseudoleprechaunism syndrome Patterson syndrome Patterson-Stevenson syndrome Patterson-Stevenson-Fontaine syndrome PATX Pauci-immune glomerulonephritis Pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody Pauci-immune glomerulonephritis without ANCA

Disease name

Pauci-immune glomerulonephritis 97564 without antineutrophil cytoplasmic 85410 247839 247846 1330 2038 186 75373 289666 2309 54247 88628 231426 231426 247198 244 178544 178540 90035 2254 2524 97249 166063 166068 166073 284339 324569 369920 97249 97249 411493 71528 454714 2924 178536 438134 46135 140989 101330 163746 90020 293462 289157 439822 765 79246

antibody Pauciarticular chronic arthritis Pauciarticular chronic arthritis with anti-nuclear antibodies Pauciarticular chronic arthritis without anti-nuclear antibodies PAVC PAVM PBC PBCRA PBL PC PCA PCARP PCB variant of GBS PCB variant of Guillain-Barré syndrome PCCA PCD PCDLBCL,LT PCFCL PCH PCH1 PCH2 PCH3 PCH4 PCH5 PCH6 PCH7 PCH8 PCH9 PCH with optic atrophy PCH without dyskinesia PCH10 PCI deficiency PCL PCLD PCMZL PCNA-related progressive neurodegenerative photosensitivy syndrome PCNSL PCNSV PCT PCWH PDALS PDCD PDDRI PDE4D haploinsufficiency syndrome PDH PDH phosphatase deficiency

ORPHA number 79243 PDHAD 255138 PDHBD 765 2796 85453 75496 699 2835 98811 439175 439175 66624

66624

93682 487809 33402 33402 477738 93552 263548 263553 263558 444138 2836 99807 48686 702 702 280229 280210 280219 280210 280234 280224 280270 280293 280282

Disease name

PDHC PDP PDR PDS Pearson syndrome Pectus excavatum-macrocephalydysplastic nails syndrome PED Pediatric AIS Pediatric arterial ischemic stroke Pediatric autoimmune disorders associated with Streptococcus infections Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections Pediatric Castleman disease Pediatric collagenous gastritis Pediatric HCC Pediatric hepatocellular carcinoma Pediatric multiple sclerosis Pediatric systemic lupus erythematosus Peeling skin syndrome type A Peeling skin syndrome type B Peeling skin syndrome type C Peeling skin-leukonuchia-acral punctate keratoses-cheilitisknuckle pads syndrome PEHO syndrome PEHO-like syndrome PEL Pelizaeus-Merzbacher brain sclerosis Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease type II Pelizaeus-Merzbacher disease, classic form Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher disease, null syndrome Pelizaeus-Merzbacher disease, transitional form Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Pelizaeus-Merzbacher-like disease due to GJC2 mutation



129

ORPHA number

Disease name

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation 97352 Pellagra Pellagra-like skin rash-neurological →220295 manifestations syndrome 137672 Pellucid marginal degeneration Pelvic dysplasia-arthrogryposis of 2840 lower limbs syndrome 2839 Pelvis-shoulder dysplasia 93333 Pelviscapular dysplasia 63275 Pemphigoid gestationis 79480 Pemphigus erythematosus 79481 Pemphigus foliaceus 79479 Pemphigus vegetans 704 Pemphigus vulgaris 994 Pena-Shokeir syndrome type 1 1466 Pena-Shokeir syndrome type 2 705 Pendred syndrome 398053 Penile adenocarcinoma 49 Penile agenesis 398058 Penile squamous cell carcinoma 49 Penis agenesis 2842 Penoscrotal transposition 313936 PENS syndrome 11 Penta-X 1335 Pentalogy of Cantrell 11 Pentasomy X 2843 Pentosuria PEO-myopathy-emaciation 352447 syndrome 2905 PEP syndrome 2880 PEPCK deficiency 2576 Perheentupa syndrome 767 Periarteritis nodosa Pericardial and diaphragmatic 2847 defect Pericardial constriction-growth 2576 failure syndrome Pericarditis-arthropathy2848 camptodactyly syndrome 137577 Perinatal asphyxia 137577 Perinatal hypoxia Perinatal lethal bent bone 313855 dysplasia 85212 Perinatal lethal Gaucher disease 247623 Perinatal lethal hypophosphatasia Perinatal lethal 247623 phosphoethanolaminuria 247623 Perinatal lethal Rathburn disease Perineal, scrotal or penoscrotal 95706 hypospadias 65250 Perineural cyst 342 Periodic disease 280288

ORPHA number 42642

436166 →682 397750 397755 79136 139426 563

163746

1795 252164 2400 84142 213812 213630 90120 171848 397744 397744 370348 370348 97927 168816 171676 98892 2849 438266 99885

65288

2850 2971 93598

Disease name

Periodic fever-aphtous stomatitispharyngitis-adenopathy syndrome Periodic fever-infantile enterocolitis-autoinflammatory syndrome Periodic paralysis type 3 Periodic paralysis with later-onset distal motor neuropathy Periodic paralysis with transient compartment-like syndrome Periodic vestibulocerebellar ataxia Perioral myoclonia with absences Peripartum cardiomyopathy Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Peripheral dysostosis Peripheral fibroblastoma Peripheral motor neuropathydysautonomia syndrome Peripheral nerve hyperexcitability Peripheral neuroectodermal cancer of cervix uteri Peripheral neuroectodermal cancer of the corpus uteri Peripheral neuropathy and optic atrophy Peripheral neuropathy, Fiskerstrand type Peripheral neuropathy-myopathyhoarseness-deafness syndrome Peripheral neuropathy-myopathyhoarseness-hearing loss syndrome Peripheral PNET Peripheral primitive neuroectodermal tumor Peripheral resistance to thyroid hormones Peritoneal cystic mesothelioma Periventricular leukomalacia Periventricular nodular heterotopia Perlman syndrome PERM Permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Perniola-Krajewska-Carnevale syndrome Peroxisomal acyl-CoA oxidase deficiency Peroxisomal alanine-glyoxylate aminotransferase deficiency

ORPHA Disease name number 2855 Perrault syndrome 75374 PERRS 178509 Perry syndrome 99120 Persistent eustachian valve 91495 99076 91495 398147 99109 99109 99109 2856 2856 97341 300324

300324 2380 1489 708 709 101033 708 709 2776 2963 2963 2869 42642 1980 90042 412206 710 93258 93259 93260 3224 2921 2871 2872 33577 2019

Persistent fetal vasculature syndrome Persistent fifth aortic arch Persistent hyperplastic primary vitreous Persistent idiopathic facial pain Persistent left superior caval vein connecting to the left-sided atrium Persistent left superior vena cava connecting to the left-sided atrium Persistent left SVC connecting to the left-sided atrium Persistent Müllerian derivatives Persistent Müllerian duct syndrome Persistent placoid maculopathy Persistent polyclonal B-cell lymphocytosis Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes Perthes disease Pertussis Peters anomaly Peters anomaly with short limb dwarfism Peters anomaly-cataract syndrome Peters congenital glaucoma Peters plus syndrome Petit-Fryns syndrome Petty syndrome Petty-Laxova-Wiedemann syndrome Peutz-Jeghers syndrome PFAPA syndrome PFBC PFCP PFE Pfeiffer syndrome Pfeiffer syndrome type 1 Pfeiffer syndrome type 2 Pfeiffer syndrome type 3 Pfeiffer-Kapferer syndrome Pfeiffer-Mayer syndrome Pfeiffer-Palm-Teller syndrome Pfeiffer-Singer-Zschiesche syndrome Pfeiffer-Weber-Christian syndrome PFFD



130

ORPHA number 172 PFIC 79306 PFIC1 79304

Disease name

PFIC2

79305 PFIC3 480483 PFIC4 480476 PFIC5 91495 PFVS 397937 PGBM1 319646 PGM1-CDG 443811 PGM3-CDG 443811 251962 1214 757 88938 88939 88940 300525 300530 756 42775 209959 209959 209959 757 209959 79483 79484 2874 2875 79483 79485 79484 79485 352636 352636 171848 231426 231426 231426 231426 2876 228410 48652 1919

PGM3-related congenital disorder of glycosylation PGNT PHA PHA2 PHA2A PHA2B PHA2C PHA2D PHA2E PHA type 1 PHACE syndrome Phacoallergic endophthalmitis Phacoanaphylactic uveitis Phacoantigenic endophthalmitis PHAII Phako-anaphylactic endophthalmitis Phakomatosis cesioflammea Phakomatosis cesiomarmorata Phakomatosis pigmentokeratotica Phakomatosis pigmentovascularis Phakomatosis pigmentovascularis type 2 Phakomatosis pigmentovascularis type 3 Phakomatosis pigmentovascularis type 5 Phakomatosis spilorosea Phalangeal microgeodic syndrome Phalangeal osteolysis PHARC syndrome Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial weakness Pharyngo-cervico-brachial variant of GBS Pharyngo-cervico-brachial variant of Guillain-Barré syndrome PHAVER syndrome PHD syndrome Phelan-McDermid syndrome Phenobarbital embryopathy

ORPHA Disease name number 84064 Phenotypic diarrhea

Phenylalanine hydroxylase 716 deficiency 716 Phenylketonuria 226 Phenylketonuria type 2 2209 Phenylketonuric embryopathy 1912 Phenytoin embryofetopathy →168569 PHID Phlebectatic osteohypoplastic 75508 angiodysplasia 69084 PHNED 2879 Phocomelia, Schinzel type Phocomelia-ectrodactyly2878 deafness-sinus arrhythmia syndrome Phocomelia-thrombocytopenia3439 encephalocele-urogenital malformations syndrome Phosphatidylinositol 4,5534 biphosphate 5-phosphatase deficiency Phosphoenolpyruvate 2880 carboxykinase deficiency 436 Phosphoethanolaminuria →319646 Phosphoglucomutase 1 deficiency Phospholipase A2-associated 35069 neurodegeneration Phosphomannomutase 2 79318 deficiency Phosphomannose isomerase 79319 deficiency Phosphoribosylpyrophosphate 3222 synthetase superactivity Phosphoserine aminotransferase 284417 deficiency 166409 Photosensitive epilepsy 91495 PHPV 30924 PHSH 180261 Phyllode tumor of the breast 498228 Phyllode tumor of the prostate 180261 Phylloide tumor of the breast 498228 Phylloide tumor of the prostate Phytanic-CoA hydroxylase 773 deficiency 2882 Phytosterolemia →33364 PIBIDS syndrome 505 Piccardi-Lassueur-Little syndrome Piebald trait-neurologic defects 2885 syndrome 2884 Piebaldism →1263 Piepkorn dysplasia 487825 Pierpont syndrome 1566 Pierquin syndrome Pierre Robin sequence-congenital 2886 heart defect-talipes syndrome

ORPHA number

Disease name

Pierre Robin sequence-faciodigital anomaly syndrome Pierre Robin sequence-fetal 3450 chondrodysplasia syndrome Pierre Robin sequence1388 hyperphalangy-clinodactyly syndrome Pierre Robin sequence3104 oligodactyly syndrome Pierre Robin syndrome-congenital 2886 heart defect-talipes syndrome Pierre Robin syndrome-faciodigital 2888 anomaly syndrome Pierre Robin syndrome-fetal 3450 chondrodysplasia syndrome Pierre Robin syndrome1388 hyperphalangy-clinodactyly syndrome 2670 Pierson syndrome 398147 PIFP 217557 PIG 99908 Pigeon-breeder lung disease 488635 PIGG-CDG 3474 PIGL-CDG 83639 PIGM-CDG Pigment anomaly-ectrodactyly978 hypodontia syndrome Pigmentary disorder with hearing 999 loss 64755 Pigmentary hairy epidermal nevus 435 Pigmentary mosaicism, Ito type Pigmentary orthochromatic 313808 leukodystrophy Pigmentary retinopathy→193 intellectual disability syndrome Pigmentation defects447961 palmoplantar keratoderma-skin carcinoma syndrome Pigmented hypertrichosis with →168569 insulin-dependent diabetes mellitus syndrome Pigmented paravenous 251295 retinochoroidal atrophy 66627 Pigmented villonodular synovitis 280633 PIGN-CDG 369837 PIGT-CDG 480506 PIHL 169 Pili annulati 720 Pili bifurcati 79492 Pili gemini 79492 Pili multigemini 2889 Pili torti Pili torti-developmental delay2891 neurological abnormalities syndrome 2888



131

ORPHA number 2890 1410 2741 251612 2892 91414 499182 228379 91414 251615 2894 251919 251909 251912 49382 3353 247165 155838 →2510 279904 →79189 2896 221150 →280 93395 251623 95613 300385 96253 91354 91350 91351 99725 2965 165994 95496 91347 96253 2897 1078 2869 157850 216873

Disease name

Pili torti-onychodysplasia syndrome Pili trianguli et canaliculi Pillay syndrome Pilocytic astrocytoma Pilodental dysplasia-refractive errors syndrome Pilomatricoma Pilomatrix carcinoma Pilomatrix dysplasia Pilomatrixoma Pilomyxoid astrocytoma Pilotto syndrome Pineal parenchymal tumor of intermediate differenciation Pineoblastoma Pineocytoma Pingelapese blindness Pinheiro-Freire Maia-Miranda syndrome Pink disease Pinnae fistula or cyst Pinsky-Di George-Harley syndrome PIOL Pipecolic acidemia Pitt-Hopkins syndrome Pitt-Hopkins-like syndrome Pitt-Rogers-Danks syndrome Pitt-Williams brachydactyly Pituicytoma Pituitary apoplexy Pituitary carcinoma Pituitary corticotroph microadenoma Pituitary deficiency due to empty sella turcica syndrome Pituitary deficiency due to Rathke's cleft cysts Pituitary dermoid and epidermoid cysts Pituitary gigantism Pituitary lactotrophic adenoma Pituitary resistance to thyroid hormone Pituitary stalk interruption syndrome Pituitary thyrotrophic adenoma Pituitary-dependent Cushing syndrome Pityriasis rubra pilaris Piussan-Lenaerts-Mathieu syndrome PJS PKAN PKAN, atypical form

ORPHA Disease name number 216866 PKAN, classic form 238455 PKDYS 716 226 477787 199351 439167 99928 444138 707 300359 79141 79141 35069 199251 251515 487825

487825 158769 454714 29073 329 289666 86855 722 439881 721 477787

52530 79434 85166 85166 85166 2899

300359 137810 99969

PKU PKU type 2 PLA2G4A-related platelet dysfunction PLA2G6-related dystoniaparkinsonism Placental insufficiency Placental site trophoblastic tumor PLACK syndrome Plague PLAID Plamoplantar hyperkeratosis nummularis Plamoplantar keratoderma nummularis PLAN Plantar fibromatosis Plantar flexion contracture Plantar lipomatosis-facial dysmorphism-developmental delay syndrome Plantar lipomatosis-unusual facies-developmental delay syndrome Plaque-form urticaria pigmentosa Plasma cell leukemia Plasma cell myeloma Plasma thromboplastin antecedent deficiency Plasmablastic lymphoma Plasmacytoma Plasminogen deficiency type 1 Plastic bronchitis Platelet alpha-granule deficiency Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency Platelet type-von Willebrand disease Platinum oculocutaneous albinism Platyspondylic dysplasia, Torrance type Platyspondylic dysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia, Torrance type Platyspondyly-amelogenesis imperfecta syndrome PLCG2-associated antibody deficiency and immune dysregulation PLCNA Pleomorphic liposarcoma

ORPHA Disease name number 293199 Pleomorphic rhabdomyosarcoma 454821 251607 449266 50251 99131 284343 64742 284343 99933 99934 99935 280356 280356 2770 2770 2375 280234 678 35689 99969 85166 330015 54028 732 764 454706 702 2856 308 501 263516 402082 280620 435438 424027 457265 352596 217260 280270 280282 79318 26790 476394 476394 476394

Pleomorphic salivary gland adenoma Pleomorphic xanthoastrocytoma Pleural empyema Pleural mesothelioma Pleuro-pericardial cyst Pleuro-pulmonary blastoma familial tumor susceptibility syndrome Pleuropulmonary blastoma Pleuropulmonary blastoma familial tumor susceptibility syndrome Pleuropulmonary blastoma type 1 Pleuropulmonary blastoma type 2 Pleuropulmonary blastoma type 3 PLIN1-related familial partial lipodystrophy PLIN1-related FPLD PLO-SL PLOSL Plott syndrome PLP1 null syndrome PLS PLS PLS PLSD-T Plumbism Plummer-Vinson syndrome PM PM PMA PMD PMDS PME type 1 PME type 2 PME type 3 PME type 5 PME type 6 PME type 7 PME type 8 PME type 9 PMED PML PMLD PMLD1 PMM2-CDG PMP PMP2-related Charcot-MarieTooth disease type 1 PMP2-related Charcot-MarieTooth neuropathy type 1 PMP2-related CMT1



132

ORPHA number 476394 477817 500533 99885 64741 55655 723 90066 447 760 760 79096 79096 246 2905 2762 2908 2909 221008 221016 221046 221046

2825 221043 279947 130 2911 2911 2911 313808 2912 330009 →33364 11 767 29207 85435 85408 247854

Disease name

PMP2-related hereditary motor and sensory neuropathy type 1 PMP22-RAI1 contiguous gene duplication syndrome PMSE syndrome PNDM Pneumoblastoma Pneumococcal meningitis Pneumocystosis Pneumonia caused by Pseudomonas aeruginosa infection PNH PNP deficiency PNPase deficiency PNPO deficiency PNPO-related neonatal epileptic encephalopathy POADS POEMS syndrome POH Poikiloderma of Kindler Poikiloderma of RothmundThomson Poikiloderma of RothmundThomson type 1 Poikiloderma of RothmundThomson type 2 Poikiloderma with neutropenia Poikiloderma with neutropenia, Clericuzio type Poikiloderma-alopeciaretrognathism-cleft palate syndrome POIKTMP syndrome POIS Pokkuri death syndrome Poland anomaly Poland sequence Poland syndrome POLD Poliomyelitis Poliomyelitis in patients with immunodeficiencies deemed at risk Pollitt syndrome Poly-X Polyarteritis nodosa Polyarthritis enterica Polyarthritis with rheumatoid factor Polyarthritis without rheumatoid factor Polyarthritis without rheumatoid factor with anti-nuclear antibodies

ORPHA number

Disease name

Polyarthritis without rheumatoid 247861 factor without anti-nuclear 450322

2770

2795 729 729 93339 295146 295144 93336 295150 295148 93337 295154 295152 2919

2754 2917 180229 453533 93308 93307 93311 397937 456369 500533 180182 447877 300573 250972 2925

antibodies Polyclonal hyperviscosity syndrome Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Polycystic ovaries-urethral sphincter dysfunction syndrome Polycythemia rubra vera Polycythemia vera Polydactyly of a biphalangeal thumb Polydactyly of a biphalangeal thumb, bilateral Polydactyly of a biphalangeal thumb, unilateral Polydactyly of a triphalangeal thumb Polydactyly of a triphalangeal thumb, bilateral Polydactyly of a triphalangeal thumb, unilateral Polydactyly of an index finger Polydactyly of an index finger, bilateral Polydactyly of an index finger, unilateral Polydactyly postaxial with median cleft of upper lip Polydactyly-cleft lip/palatepsychomotor retardation syndrome Polydactyly-myopia syndrome Polyembryoma Polyendocrine-polyneuropathy syndrome Polyepiphyseal dysplasia type 1 Polyepiphyseal dysplasia type 4 Polyepiphyseal dysplasia type 5 Polyglucosan body myopathy type 1 Polyglucosan body myopathy type 2 Polyhydramnios-megalencephalysymptomatic epilepsy syndrome Polymastia Polymerase proofreading-related adenomatous polyposis Polymicrogyria due to TUBB2B mutation Polymicrogyria with optic nerve hypoplasia Polymicrogyria-turricephalyhypogenitalism syndrome

ORPHA number 64745 1243 93569 732 639

2905 2926

171848

2928 93276 160148 2869

208981

141091 141091 93338 295161 93405 295159 2934 228410 139426 1183 71526 365 308552 420429 99748 477749 269229 324569 2254 2524 97249 166063 166068 166073

Disease name

Polymorphic eruption of pregnancy Polymorphic vitelline macular degeneration Polymyalgia rheumatica Polymyositis Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG Polyneuropathy-endocrinopathyplasma cell dyscrasia syndrome Polyneuropathy-hand defect syndrome Polyneuropathy-hearing lossataxia-retinitis pigmentosacataract syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Polyostotic fibrous dysplasia Polypoid prolapsing folds Polyps and spots syndrome Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies Polyrhinia Polyrrhinia Polysyndactyly Polysyndactyly, bilateral Polysyndactyly, Haas type Polysyndactyly, unilateral Polysyndactyly-cardiac malformation syndrome Polyvalvular heart disease syndrome POMA POMA syndrome POMC deficiency Pompe disease Pompe disease, infantile onset Pompe disease, late onset Pontiac fever Pontine autosomal dominant microangiopathy with leukoencephalopathy Pontine tegmental cap dysplasia Pontocerebellar hypoplasia due to CHMP1A mutation Pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 3 Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 6



133

ORPHA Disease name number 284339 Pontocerebellar hypoplasia type 7 324569 Pontocerebellar hypoplasia type 8 369920 Pontocerebellar hypoplasia type 9 411493

284339

284400

213777

213731

213731

213777 263339 1300 95699 666 95699 2940 2941

306547 370022 735 737 166286 166286 101330 443057 443062 100924 100924 100924 100924 79473 2703

Pontocerebellar hypoplasia type 10 Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Poorly differentiated neuroendocrine carcinoma of the bladder Poorly differentiated neuroendocrine carcinoma of the cervix uteri Poorly differentiated neuroendocrine carcinoma of the corpus uteri Poorly differentiated neuroendocrine carcinoma of the endometrium Poorly differentiated neuroendocrine cervical carcinoma Poorly differentiated thymic neuroendocrine carcinoma Popliteal web syndrome POR deficiency Porak and Durante disease PORD Porencephaly Porencephaly-cerebellar hypoplasia-internal malformations syndrome Porencephaly-microcephalybilateral congenital cataract syndrome Poretti-Boltshauser syndrome Porokeratosis of Mibelli Porokeratosis plantaris palmaris et disseminata Porokeratotic eccrine nevus Porokeratotic eccrine ostial and dermal duct nevus Porphyria cutanea tarda Porphyria cutanea tarda type I Porphyria cutanea tarda type II Porphyria due to ALA dehydratase deficiency Porphyria due to ALAD deficiency Porphyria due to deltaaminolevulinate dehydratase deficiency Porphyria of Doss Porphyria variegata Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA number 70568 137839 246 246 295008 295008 295181 295179 93334 295165 295163 93335 295169 295167

420584

2916 2920 93406 2730 263352 97349 98971 98971 88628 54247 2064 95706 268810 98973 98973 93110 48435 216452

Disease name

Post-transplant lymphoproliferative disease Postanginal sepsis secondary to orophyngeal infection Postaxial acrodysostosis Postaxial acrofacial dysostosis Postaxial polydactyly of foot Postaxial polydactyly of toes Postaxial polydactyly of toes, bilateral Postaxial polydactyly of toes, unilateral Postaxial polydactyly type A Postaxial polydactyly type A, bilateral Postaxial polydactyly type A, unilateral Postaxial polydactyly type B Postaxial polydactyly type B, bilateral Postaxial polydactyly type B, unilateral Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Postaxial polydactyly-dental and vertebral anomalies syndrome Postaxial polydactyly-intellectual disability syndrome Postaxial syndactyly with metacarpal synostosis Postaxial tetramelic oligodactyly Postcardiotomy right ventricular failure Postencephalitic parkinsonism Posterior amorphous corneal dystrophy Posterior amorphous stromal dystrophy Posterior column ataxia-retinitis pigmentosa syndrome Posterior cortical atrophy Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome Posterior hypospadias Posterior meningocele Posterior polymorphous corneal dystrophy Posterior polymorphous dystrophy Posterior urethral valve Postinfectious vasculitis Postlingual non-syndromic genetic deafness

ORPHA number

477673

279947 563 443173 2942 2942 2942 2942 2942 98913 163921 443236 238606 →682 640 1713 52022 3316 217067 2876 2201 314566 447877 79083 79083 284343 284343 300324 168829 98973 93339 93336 93337 93338 75567 411696 411696 411696 494 79141 86923 140966 1010

Disease name

Postnatal microcephaly-infantile hypotonia-spastic diplegiadysarthria-intellectual disability syndrome Postorgasmic illness syndrome Postpartum cardiomyopathy Postpartum psychosis Postpolio sequelae Postpolio syndrome Postpoliomyelitic syndrome Postpoliomyelitis sequelae Postpoliomyelitis syndrome Postsynaptic congenital myasthenic syndromes Posttransplant acute limbic encephalitis Postural tachycardia syndrome due to NET deficiency POT Potassium-sensitive normokalemic periodic paralysis Potato-grubbing palsy Potocki-Lupski syndrome Potocki-Shaffer syndrome Potter sequence-cleft lip/palatecardiopathy syndrome Pouchitis Powell-Chandra-Saal syndrome Powell-Venencie-Gordon syndrome PPAOS PPAP PPARG-related familial partial lipodystrophy PPARG-related FPLD PPB familial tumor susceptibility syndrome PPBFTDS PPBL PPC PPCD PPD1 PPD2 PPD3 PPD4 PPFG PPI-REE PPI-responsive esophageal eosinophilia PPIRee PPK mutilans and deafness PPK nummularis PPK, Gamborg-Nielsen type PPK, Nagashima type PPK-CA, Stevanovic type



134

ORPHA Disease name number 1366 PPK-CA, Wallis type 2202 PPK-deafness syndrome 79501 79502 38 308013 3077 189439 370348 97278 163927 308013 79502 251295 398980 324977 739 3409 739 398069 177910

98754

98793

177901

177904

177907 398073 398079 171829 2956 293462 245 2957 295006 295006 295177 295175 93339

PPKP1 PPKP2 PPKP3 PPKP3 without elastoidosis PPM-X PPNAD PPNET PPoma PPP PPPK3 without elastoidosis PPPP PPRCA PPSPC PRAAS Prader-Labhart-Willi syndrome Prader-Willi habitus-osteopeniacamptodactyly syndrome Prader-Willi syndrome Prader-Willi syndrome due to a point mutation Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to translocation Prader-Willi-like syndrome Prader-Willi-like syndrome due to a point mutation Prader-Willi-like syndrome due to deletion 6q16 Prata-Liberal-Goncalves syndrome Pre-Descemet corneal dystrophy Preaxial acrodysostosis Preaxial deficiency-postaxial polydactyly-hypospadias syndrome Preaxial polydactyly of foot Preaxial polydactyly of toes Preaxial polydactyly of toes, bilateral Preaxial polydactyly of toes, unilateral Preaxial polydactyly type 1

ORPHA number 295146 295144 93336 295150 295148 93337 295154 295152 93338 295161 295159 2921 1309 99860

99860

99860 99860 99861

99861

99861 99861

488280

457088 275555 69665 216445

276432

363665

Disease name

Preaxial polydactyly type 1, bilateral Preaxial polydactyly type 1, unilateral Preaxial polydactyly type 2 Preaxial polydactyly type 2, bilateral Preaxial polydactyly type 2, unilateral Preaxial polydactyly type 3 Preaxial polydactyly type 3, bilateral Preaxial polydactyly type 3, unilateral Preaxial polydactyly type 4 Preaxial polydactyly type 4, bilateral Preaxial polydactyly type 4, unilateral Preaxial polydactyly-colobomataintellectual disability syndrome Precalicial canalicular ectasia Precursor B-cell acute lymphoblastic leukemia Precursor B-cell acute lymphoblastic leukemia/lymphoma Precursor B-cell acute lymphocytic leukemia Precursor B-cell acute lymphocytic leukemia/lymphoma Precursor T-cell acute lymphoblastic leukemia Precursor T-cell acute lymphoblastic leukemia/lymphoma Precursor T-cell acute lymphocytic leukemia Precursor T-cell acute lymphocytic leukemia/lymphoma Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication Predisposition to invasive fungal disease due to CARD9 deficiency Preeclampsia Pregnancy-related cholestasis Prelingual non-syndromic genetic deafness Premature aging appearancedevelopmental delay-cardiac arrhythmia syndrome Premature aging syndrome, Penttinen type

ORPHA number

Disease name

Premature chromosome →2512 condensation with microcephaly 95486 95486 2114 247638 247638 247638 486811

90160 98914 79410 79410 2958 1451 945 930 75564 85138 874 85443 228272 140989 1572 2285 189427 186 186 779 314684 46135 300865 267 169464 46135 140989 244 →244

and intellectual disability Premature closure of the arterial duct Premature closure of the patent ductus arteriosus Premature degenerative osteoarthropathy of the hip Prenatal benign hypophosphatasia Prenatal benign phosphoethanolaminuria Prenatal benign Rathburn disease Prenatal-onset spinal muscular atrophy with congenital bone fractures Pressure-induced localized lipoatrophy Presynaptic congenital myasthenic syndromes Pretibial DEB Pretibial dystrophic epidermolysis bullosa Prieto-Badia-Mulas syndrome Prieur-Griscelli syndrome Primary acalvaria Primary achalasia Primary acquired sideroblastic anemia Primary Addison's disease Primary adult heart tumor Primary amyloidosis Primary anetoderma Primary angiitis of the central nervous system Primary antibody deficiency Primary basilar invagination Primary bilateral macronodular adrenal hyperplasia Primary biliary cholangitis Primary biliary cirrhosis Primary biliary cirrhosis and systemic scleroderma Primary bone lymphoma Primary brain lymphoma Primary C-ALCL Primary calpainopathy Primary CD59 deficiency Primary central nervous system lymphoma Primary central nervous system vasculitis Primary ciliary dyskinesia Primary ciliary dyskinesia, Kartagener type



135

ORPHA number 247522 46135 477781 90042 98976 91138 178528

300865

178522

178544

178528

178540 178533 178536 86885

86885 451602 86885 98807 99657 98805 98806 98807 370103 306734 464440 48686 90026 357220 412206 98957 90042 1980 90042

Disease name

Primary ciliary dyskinesia-retinitis pigmentosa syndrome Primary CNS lymphoma Primary condylar hyperplasia Primary congenital erythrocytosis Primary congenital glaucoma Primary cryoglobulinemia Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Primary cutaneous anaplastic large cell lymphoma Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma Primary cutaneous diffuse large Bcell lymphoma, leg type Primary cutaneous epidermotropic cytotoxic CD8+ Tcell lymphoma Primary cutaneous follicle center lymphoma Primary cutaneous gamma/deltapositive T-cell lymphoma Primary cutaneous marginal zone B-cell lymphoma Primary cutaneous peripheral Tcell lymphoma NOS Primary cutaneous peripheral Tcell lymphoma not otherwise specified Primary cutaneous plasmacytosis Primary cutaneous unspecified peripheral T-cell lymphoma Primary dystonia with mixed phenotype Primary dystonia, DYT2 type Primary dystonia, DYT4 type Primary dystonia, DYT6 type Primary dystonia, DYT13 type Primary dystonia, DYT17 type Primary dystonia, DYT21 type Primary dystonia, DYT27 type Primary effusion lymphoma Primary erythermalgia Primary essential cutis verticis gyrata Primary failure of tooth eruption Primary familial amyloidosis of the cornea Primary familial and congenital polycythemia Primary familial brain calcification Primary familial polycythemia

ORPHA number 3337 3337 633 633 633 633 100085 480506 314950 314950

2232

682 416 93598 93599 93600 682 33208 1572 30924 75391 90023 90023

447731

75391

431166

431166 73272 90362 480506 458768 279904 279904

Disease name

Primary Fanconi renotubular syndrome Primary Fanconi syndrome Primary GH insensitivity Primary GH resistance Primary growth hormone insensitivity Primary growth hormone resistance Primary hepatic neuroendocrine carcinoma Primary hepatolithiasis Primary HES Primary hypereosinophilic syndrome Primary hypergonadotropic hypogonadism-partial alopecia syndrome Primary hyperkalemic periodic paralysis Primary hyperoxaluria Primary hyperoxaluria type 1 Primary hyperoxaluria type 2 Primary hyperoxaluria type 3 Primary hyperPP Primary hypersomnia Primary hypogammaglobulinemia Primary hypomagnesemia with secondary hypocalcemia Primary immunodeficiency due to MCM4 deficiency Primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome with short stature Primary immunodeficiency with multifaceted aberrant lymphoid immunity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary immunodeficiency with post-MMR vaccine viral infection Primary insulin-like growth factor deficiency Primary intestinal lymphangiectasia Primary intrahepatic lithiasis Primary intralymphatic angioendothelioma Primary intraocular lymphoma Primary intraocular non-Hodgkin's lymphoma

ORPHA number 140436 137926 35689 314709 137810 319667 319667 228272 168811 98838 98838 238642 252050 54370

306558

391408 824 357225 289356 289356 279897 279897 238606 439737 99878 875 439737 168829 168829 398980 189439 100021 439737

Disease name

Primary intraosseous venous malformation Primary laryngeal lymphangioma Primary lateral sclerosis Primary localized amyloidosis Primary localized cutaneous nodular amyloidosis Primary lymphoid conjunctival tumor Primary lymphoma of the conjunctiva Primary macular atrophy Primary malignant peritoneal mesothelioma Primary mediastinal clear cell lymphoma of B-cell type Primary mediastinal large B-cell lymphoma Primary megaureter, adult-onset form Primary melanoma of the central nervous system Primary membranoproliferative glomerulonephritis Primary microcephaly-epilepsypermanent neonatal diabetes syndrome Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Primary myelofibrosis Primary non-essential cutis verticis gyrata Primary non-gestational choriocarcinoma of ovary Primary non-gestational ovarian choriocarcinoma Primary oculocerebral lymphoma Primary oculocerebral nonHodgkin lymphoma Primary orthostatic tremor Primary PAN Primary parathyroid hyperplasia Primary pediatric heart tumor Primary periarteritis nodosa Primary peritoneal carcinoma Primary peritoneal serous carcinoma Primary peritoneal serous/papillary carcinoma Primary pigmented nodular adrenocortical disease Primary plasmacytoma of the bone Primary polyarteritis nodosa



136

ORPHA number 314566 75567 275766 2257 2420 358 412206 171 99856 98841 314701 268861 268861 99867 263310 263324 263317 99867 263310 263324 263317

98807

231580 140989 213812 213630 854 3033 2636

→2637 3042 397606 412066

Disease name

Primary progressive apraxia of speech Primary progressive freezing gait Primary pulmonary arterial hypertension Primary pulmonary hypoplasia Primary pulmonary lymphoma Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria Primary retention of teeth Primary sclerosing cholangitis Primary syringomyelia Primary systemic ALCL Primary systemic amyloidosis Primary tethered cord syndrome Primary tethered spinal cord syndrome Primary thymic epithelial neoplasm Primary thymic epithelial neoplasm type A Primary thymic epithelial neoplasm type AB Primary thymic epithelial neoplasm type B Primary thymic epithelial tumor Primary thymic epithelial tumor type A Primary thymic epithelial tumor type AB Primary thymic epithelial tumor type B Primary torsion dystonia with predominant craniocervical or upper limb onset Primary unilateral adrenal hyperplasia Primary vasculitis of the central nervous system Primitive neuroectodermal tumor of the cervix uteri Primitive neuroectodermal tumor of the corpus uteri Primitive portal vein thrombosis Primitive renal tubule syndrome Primordial microcephalic dwarfism, Crachami type Primordial short staturemicrodontia-opalescent and rootless teeth syndrome Primrose syndrome Prion protein systemic amyloidosis PRKAR1B-related neurodegenerative dementia with intermediate filaments

ORPHA Disease name number 2965 PRL-secreting pituitary adenoma 2965 PRLoma 326

2959 300382

435953

2962 2963

79094

448251

448251

75373 →97229 →97229 139447 79087 247198 1871 220393 220393 3235 216812 1328 495 495 438266

2836

Progeria-associated arthropathy Progeria-short stature-pigmented nevi syndrome Progeroid and marfanoid aspectlipodystrophy syndrome Progeroid features-hepatocellular carcinoma predisposition syndrome Progeroid syndrome, De Barsy type Progeroid syndrome, Petty type Progressive arterial occlusive disease-hypertension-heart defects-bone fragilitybrachysyndactyly syndrome Progressive autosomal recessive ataxia-deafness syndrome Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome Progressive bifocal chorioretinal atrophy Progressive bulbar palsy of childhood Progressive bulbar paralysis of childhood Progressive cavitating leukoencephalopathy Progressive cephalothoracic lipodystrophy Progressive cerebello-cerebral atrophy Progressive cone dystrophy Progressive cutaneous systemic scleroderma Progressive cutaneous systemic sclerosis Progressive deafness with stapes fixation Progressive deforming osteogenesis imperfecta Progressive diaphyseal dysplasia Progressive diffuse palmoplantar keratoderma Progressive diffuse PPK Progressive encephalomyelitis with rigidity and myoclonus Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

Disease name

Progressive encephalopathy with 431361 leukodystrophy due to DECR

Proaccelerin deficiency

141099 Proboscis lateralis 740 Progeria 99706

ORPHA number

99852 2836 1947

457212

2744

352447 1214 172 79306 79304 79305 480483 480476 75327 1214 199282 73 477814

217260 217260 454706 424027 263516 435438 457265 308

deficiency Progressive encephalopathy with severe infantile anorexia Progressive encephalopathy-optic atrophy syndrome Progressive epilepsy-intellectual disability syndrome, Finnish type Progressive essential tremorspeech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Progressive external ophthalmoplegia and scoliosis Progressive external ophthalmoplegia-myopathyemaciation syndrome Progressive facial hemiatrophy Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 4 Progressive familial intrahepatic cholestasis type 5 Progressive foveal dystrophy Progressive hemifacial atrophy Progressive isolated segmental anhidrosis Progressive massive osteolysis Progressive microcephalyseizures-cortical blindnessdevelopmental delay syndrome Progressive multifocal leukoencephalitis Progressive multifocal leukoencephalopathy Progressive muscular atrophy Progressive myoclonic epilepsy due to CERS1 deficiency Progressive myoclonic epilepsy due to KCTD7 deficiency Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonic epilepsy due to LMNB2 deficiency Progressive myoclonic epilepsy type 1



137

ORPHA number 501 263516 163696 402082 280620 435438 424027 457265 352596 308 501 263516 402082 280620 435438 424027 457265 352596

726

228012

228012 158022 100070 2062 2762 3322

217396

Disease name

Progressive myoclonic epilepsy type 2 Progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy type 4 Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy type 6 Progressive myoclonic epilepsy type 7 Progressive myoclonic epilepsy type 8 Progressive myoclonic epilepsy type 9 Progressive myoclonic epilepsy with dystonia Progressive myoclonus epilepsy type 1 Progressive myoclonus epilepsy type 2 Progressive myoclonus epilepsy type 3 Progressive myoclonus epilepsy type 5 Progressive myoclonus epilepsy type 6 Progressive myoclonus epilepsy type 7 Progressive myoclonus epilepsy type 8 Progressive myoclonus epilepsy type 9 Progressive myoclonus epilepsy with dystonia Progressive neuronal degeneration of childhood with liver disease Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome Progressive nodular histiocytosis Progressive non-fluent aphasia Progressive non-infectious anterior vertebral fusion Progressive osseous heteroplasia Progressive pancytopeniaimmunodeficiency-cerebellar hypoplasia syndrome Progressive polyneuropathy with bilateral striatal necrosis


447977

228012

228012

457395

683 240112 240103 240085

240112

240094

316 316 2965 2965 742 492 86872 221126 419 75374 300878 300878 2083 2966 35 35

Disease name

Progressive pseudorheumatoid arthropathy of childhood Progressive retinal dystrophy due to retinol transport defect Progressive scapulohumeroperoneal distal myopathy Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Progressive supranuclear palsy Progressive supranuclear palsyapraxia of speech syndrome Progressive supranuclear palsycorticobasal syndrome Progressive supranuclear palsyparkinsonism syndrome Progressive supranuclear palsyprogressive non-fluent aphasia syndrome Progressive supranuclear palsypure akinesia with gait freezing syndrome Progressive symmetric erythrokeratodermia Progressive symmetric erythrokeratodermia, Gottron type Prolactin-secreting pituitary adenoma Prolactinoma Prolidase deficiency Proliferating trichilemmal cyst Proliferation of large granular lymphocytes Proliferative vasculopathy and hydranencephaly/hydrocephaly Proline oxidase deficiency Prolonged electroretinal response suppression Prolymphocytic variant of hairy cell leukemia Prolymphocytic variant of HCL Prominent glabella-microcephalyhypogenitalism syndrome Properdin deficiency Propionic acidemia Propionic aciduria

ORPHA number 35 485358 485358 324977 324977 213 26349 744 2969 325 411696 251598 79473 2508 2508 52022 261197 370079 261197 370079 261197 401768 606 606 47159 93607 70 83330 83418 83419 83420 3250 370079 3390 397606 3222 3222 47159 165994 2970

Disease name

Propionyl-CoA carboxylase deficiency Propylthiouracil embryofetopathy Propylthiouracil embryopathy Proteasome disability syndrome Proteasome-associated autoinflammatory syndrome Protein defect of cystin transport Protein S acquired deficiency Proteus syndrome Proteus-like syndrome Prothrombin deficiency Proton-pump inhibitor-responsive esophageal eosinophilia Protoplasmic astrocytoma Protoporphyrinogen oxidase deficiency Proud syndrome Proud-Levine-Carpenter syndrome Proximal 11p deletion syndrome Proximal 16p11.2 microdeletion syndrome Proximal 16p11.2 microduplication syndrome Proximal del(16)(p11.2) Proximal dup(16)(p11.2) Proximal monosomy 16p11.2 Proximal myopathy with extrapyramidal signs Proximal myotonic dystrophy Proximal myotonic myopathy Proximal renal tubular acidosis Proximal renal tubular acidosis with ocular abnormalities and intellectual disability Proximal spinal muscular atrophy Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 4 Proximal symphalangism Proximal trisomy 16p11.2 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome PrP systemic amyloidosis PRPP synthetase superactivity PRPS1 superactivity pRTA PRTH Prune belly syndrome



138

ORPHA number 89843 64745 284417 171 228402 99000 314459 577 314459 439881 263482 2971 2971 1229 2166 99000 52530 52530 →300 750 750 750 2971 526 221120 85174 2983 526 88660 756 757 88938 88939 88940 300525 300530 79443 94089 79444 94090 2976 26790

Disease name

Pruriginous dystrophic epidermolysis bullosa Pruritic urticarial papules and plaques of pregnancy PSAT deficiency PSC Pseudo-Angelman syndrome Pseudo-Best disease Pseudo-Demons-Meigs syndrome Pseudo-Hurler polydystrophy Pseudo-Meigs syndrome Pseudo-membranous bronchitis Pseudo-Morquio syndrome type 2 Pseudo-NALD Pseudo-neonatal adrenoleukodystrophy Pseudo-TORCH syndrome Pseudo-trisomy 13 syndrome Pseudo-vitelliform macular dystrophy Pseudo-von Willebrand disease Pseudo-von Willebrand disease type 2B Pseudo-Zellweger syndrome Pseudoachondroplasia Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia Pseudoadrenoleukodystrophy Pseudoaldosteronism Pseudoaminopterin syndrome Pseudodiastrophic dysplasia Pseudohermaphroditismintellectual disability syndrome Pseudohyperaldosteronism type 1 Pseudohyperaldosteronism type 2 Pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2 Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2B Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2E Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2 Pseudoleprechaunism syndrome, Patterson type Pseudomyxoma peritonei


2980 129 2985 79445 477742 477742 3103 2518 238624 83316 180079 753 289157 758 228293

436274

91135 228227 280794 280794 95496 85436 85436 683 240112 240103 240103 240085 240094 240085 240112 240094 263548 263553 99928 71519 71519 324636

Disease name

Pseudopapillary ganglioglioneurocytoma Pseudopapillary neurocytoma with glial differentiation Pseudopapilledemablepharophimosis-hand anomalies syndrome Pseudopelade of Brocq Pseudoprogeria syndrome Pseudopseudohypoparathyroidis m Pseudosarcomatous fasciitis Pseudosarcomatous fibromatosis Pseudothalidomide syndrome Pseudotoxoplasmosis syndrome Pseudotumor cerebri Pseudotyphus of California Pseudounicornuate uterus Pseudovaginal perineoscrotal hypospadias Pseudovitamin D-deficient rickets Pseudoxanthoma elasticum Pseudoxanthoma elasticum-like papillary dermal elastolysis Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Pseudoxanthoma elasticum-like syndrome Pseudoxanthoma-like late-onset focal dermal elastosis Pseudoxanthomatous DCM Pseudoxanthomatous diffuse cutaneous mastocytosis PSIS Psoriasis-related JIA Psoriasis-related juvenile idiopathic arthritis PSP syndrome PSP-AOS PSP-CBS PSP-corticobasal syndrome PSP-p PSP-PAGF PSP-parkinsonism PSP-PNFA PSP-pure akinesia with gait freezing PSS type A PSS type B PSST Psychogenic dystonia Psychogenic movement disorders Psychogenic purpura

ORPHA number

Disease name

Psychomotor retardation due to S88618 adenosylhomocysteine hydrolase

deficiency PT-VWD 329 PTA deficiency 247698 PTC syndrome 97290 PTC-RCC 269229 PTCD Pterin-4 alpha-carbinolamine 1578 dehydratase deficiency Pterygium colli-intellectual 2988 disability-digital anomalies syndrome 86789 PTLAH 70568 PTLD Ptosis-strabismus-ectopic pupils 2999 syndrome Ptosis-strabismus-rectus →293843 abdominis diastasis syndrome Ptosis-syndactyly-learning 238766 difficulties syndrome Ptosis-upper ocular movement 228396 limitation-absence of lacrimal punctum syndrome Ptosis-vocal cord paralysis 2997 syndrome 251915 PTPR 485358 PTU embryofetopathy 485358 PTU embryopathy 231580 PUAH 60039 Pudendal algia Pudendal nerve entrapment 60039 syndrome 60039 Pudendal neuralgia Pudendal neuralgia by pudendal 60039 nerve entrapment 60039 Pudendalgia 443173 Puerperal psychosis 984 Pulmonary agenesis 60025 Pulmonary alveolar microlithiasis Pulmonary alveolar proteinosis, 440427 Reunion island type 247257 Pulmonary anthrax Pulmonary arterial hypertension→331176 leukopenia-atrial septal defect syndrome Pulmonary arteriovenous 2038 malformation Pulmonary artery coming from 99049 patent ductus arteriosus Pulmonary artery coming from the 99050 aorta 99083 Pulmonary artery hypoplasia Pulmonary atresia with ventricular 1207 septal defect 52530



139

ORPHA number 1208 64741 99084 199241

210136

217080 99874 991

217557 2414 60026 411703 60026 101206

99048 31837 →636

85202 98984 97353 79502 38

308013

79501 79502 38

308013

438213

Disease name

Pulmonary atresia-intact ventricular septum syndrome Pulmonary blastoma Pulmonary branch stenosis Pulmonary capillary hemangiomatosis Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Pulmonary fungal infections in patients deemed at risk Pulmonary histiocytosis X Pulmonary hypoplasia-agonadismdextrocardia-diaphragmatic hernia syndrome Pulmonary interstitial glycogenosis Pulmonary lymphangiomatosis Pulmonary nodular lymphoid hyperplasia Pulmonary non-tuberculous mycobacterial infection Pulmonary pseudolymphoma Pulmonary valve agenesistetralogy of Fallot-absence of ductus arteriosus syndrome Pulmonary valve agenesisventricular septal defect-persistent ductus arteriosus syndrome Pulmonary venoocclusive disease Pulmonic stenosis with 'café-aulait' spots Pulmonic stenosisbrachytelephalangism-calcification of cartilages syndrome Pulverulent cataract Punch-drunk syndrome Punctate palmoplantar hyperkeratosis type 2 Punctate palmoplantar hyperkeratosis type 3 Punctate palmoplantar hyperkeratosis type 3 without elastoidosis Punctate palmoplantar keratoderma type 1 Punctate palmoplantar keratoderma type 2 Punctate palmoplantar keratoderma type 3 Punctate palmoplantar keratoderma type 3 without elastoidosis PURA-related severe neonatal hypotonia-seizuresencephalopathy syndrome

ORPHA number

438216

231625 231625 231625 441 441 319465 319465 69084 441 475 254854 2028 760 761 2442 293173 163927 48377 93110 729 101206 99048 398069 398073 398079 251607 758 228227 228293 91135 436274 763 293633 293633 481152 3003 763 64280 3005 48104 289478

Disease name

PURA-related severe neonatal hypotonia-seizuresencephalopathy syndrome due to a point mutation Pure aldosterone-producing adrenocortical carcinoma Pure aldosterone-secreting adrenocortical carcinoma Pure APAC Pure autonomic failure Pure dysautonomia Pure familial acute myeloid leukemia Pure familial AML Pure hair and nail ectodermal dysplasia Pure idiopatic dysautonomia Pure Joubert syndrome Pure mitochondrial myopathy Puretic syndrome Purine nucleoside phosphorylase deficiency Purpura rheumatica Purtilo syndrome Pustular drug eruption Pustulosis palmaris et plantaris Pustulosis subcornealis PUV PV PVA/ADA, Fallot type PVA/PDA, non-Fallot type PWS due to a point mutation PWS-like PWS-like due to a point mutation PXA PXE PXE-like late-onset focal dermal elastosis PXE-like papillary dermal elastolysis PXE-like syndrome PXE-like syndrome with retinitis pigmentosa Pycnodysostosis PYCR1 deficiency PYCR1-related De Barsy syndrome PYCR2-related microcephalyprogressive leukoencephalopathy Pyknoachondrogenesis Pyknodysostosis Pyknolepsy Pyle disease Pyoderma gangrenosum Pyoderma gangrenosum-acnesuppurative hidradenitis syndrome

ORPHA number 69126 183713 764 2561 63440 79096 79096 79096 79096 3006 32 293633 3008 353308 353314 353320 353320 353308 353314 79243 79244 255182 765

79243

255138

765 79243 255138 79244 2394

Disease name

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome Pyogenic bacterial infections due to MyD88 deficiency Pyomyositis Pyramidal molar-glaucoma-upper abnormal lip syndrome Pyrgocephaly Pyridoxal phosphate-dependent seizures Pyridoxal phosphate-responsive seizures Pyridoxamine 5'-oxidase deficiency Pyridoxamine 5'-phosphate oxidase deficiency Pyridoxine-dependent epilepsy Pyroglutamicaciduria Pyrroline-5-carboxylate reductase 1 deficiency Pyruvate carboxylase deficiency Pyruvate carboxylase deficiency type A Pyruvate carboxylase deficiency type B Pyruvate carboxylase deficiency type C Pyruvate carboxylase deficiency, benign type Pyruvate carboxylase deficiency, infantile form Pyruvate carboxylase deficiency, severe neonatal type Pyruvate decarboxylase deficiency Pyruvate dehydrogenase complex component E2 deficiency Pyruvate dehydrogenase complex component E3 deficiency Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex E1 component subunit alpha deficiency Pyruvate dehydrogenase complex E1 component subunit beta deficiency Pyruvate dehydrogenase deficiency Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E3 deficiency



140

ORPHA number 255182 79246 255182 766 781 3010 602 781 9 84142 869 220436 781 137888 346 1437 1447 1450 96175 1446 261529 100057 100057 770 769 240760 93321 1121 93321 295071 295069 2252 93321 295071 295069 93321

2307

3026 90021 70475

Disease name

Pyruvate dehydrogenase E3binding protein deficiency Pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase protein X component deficiency Pyruvate kinase deficiency of erythrocytes Q fever Qazi-Markouizos syndrome Quadriceps-sparing myopathy Quadrilateral fever Quadruple X Quantal squander syndrome Quaternary A syndrome Quebec platelet disorder Query fever Question mark ear syndrome Quinquaud's folliculitis decalvans r(1) syndrome r(4) syndrome r(8) syndrome r(11) syndrome r(22) syndrome r(Y) RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema Rabies Rabson-Mendenhall syndrome RAD50 deficiency Radial clubhand Radial deficiency-tibial hypoplasia syndrome Radial hemimelia Radial hemimelia, bilateral Radial hemimelia, unilateral Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Radial longitidinal meromelia Radial longitidinal meromelia, bilateral Radial longitidinal meromelia, unilateral Radial ray agenesis Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Radial ray hypoplasia-choanal atresia syndrome Radiation myelitis Radiation proctitis

ORPHA Disease name number 99789 Radicular dentin dysplasia →2712 3015 295219 295217 295219 295217 71289

→193 294979 295095 295093

420741

3269 3270

3268 100057 100019 100020 168960 1832 50811 178307 268114 99843 3018 3018 3019 1051 3020 86861 3021

293987

293987

Radiculomegaly of canine teethcongenital cataract Radio-renal syndrome Radio-ulnar fusion, bilateral Radio-ulnar fusion, unilateral Radio-ulnar synostosis, bilateral Radio-ulnar synostosis, unilateral Radio-ulnar synostosisamegakaryocytic thrombocytopenia syndrome Radio-ulnar synostosis-retinal pigment abnormalities syndrome Radio-ulnar terminal transverse meromelia Radio-ulnar terminal transverse meromelia, bilateral Radio-ulnar terminal transverse meromelia, unilateral Radiosensitivityimmunodeficiency-dysmorphic features-learning difficulties syndrome Radioulnar fusion Radioulnar synostosisdevelopmental delay-hypotonia syndrome Radioulnar synostosismicrocephaly-scoliosis syndrome RAE RAEB-1 RAEB-2 RAEB-t Raine syndrome Rajab-Spranger syndrome RAK RALD Rambam-Hasharon syndrome Rambaud-Gallian syndrome Rambaud-Gallian-Touchard syndrome Ramon syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome Randall disease RAPADILINO syndrome Rapid-onset childhood obesityhypothalamic dysfunctionhypoventilation-autonomic dysregulation syndrome Rapid-onset childhood obesityhypothalamic dysfunctionhypoventilation-autonomic dysregulation-neural tumors syndrome

ORPHA number 71517 141184 280569 →1071 213528 137820 98345 98619 101685 101685 213574 75564 438114 268114 1929 1929 3023 31205 436 99852 2840 79127 98961 96175 93111 177 284388 79408 89842 89841 79408 89842 89841 89842 79409 89842 79408 85445 29207 314962 166433 857 1188

Disease name

Rapid-onset dystoniaparkinsonism Rapidly involuting congenital hemangioma Rapidly progressive glomerulonephritis Rapp-Hodgkin syndrome Rare adenocarcinoma of the breast Rare endometriosis Rare idiopathic male infertility Rare isolated myopia Rare non-syndromic intellectual disability Rare NSID Rare variants of adenocarcinoma of the corpus uteri RARS RARS-related autosomal recessive hypomyelinating leukodystrophy RAS-associated autoimmune leukoproliferative disease Rasmussen subacute encephalitis Rasmussen syndrome Rasmussen-Johnsen-Thomsen syndrome Rat-bite fever Rathburn disease Ravine syndrome Ray-Peterson-Scott syndrome RB-ILD RBCD RC11 RCAD syndrome RCDP RCVS RDEB generalisata gravis RDEB generalisata mitis RDEB, centripetalis RDEB, Hallopeau-Siemens type RDEB, non-Hallopeau-Siemens type RDEB-Ce RDEB-generalized other RDEB-I RDEB-O RDEB-sev gen Reactive amyloidosis Reactive arthritis Reactive hypereosinophilic syndrome Reading seizures REAR syndrome Reardon-Baraitser syndrome



141

ORPHA Disease name number 2631 Reardon-Hall-Slaney syndrome 96167 Rec8 syndrome 96167 1115 79409

89842

89842

280384

94125 461 281090 96167 96167 99990 171220 100081 424002 51890 88619 64740 2672

90052

293381 499103 169142

183675

251523

69665

480864

Rec(8) syndrome Recessive aplasia cutis congenita of limbs Recessive dystrophic epidermolysis bullosa inversa Recessive dystrophic epidermolysis bullosa, nonHallopeau-Siemens type Recessive dystrophic epidermolysis bullosa-generalized other Recessive intellectual disabilitymotor dysfunction-multiple joint contractures syndrome Recessive mitochondrial ataxia syndrome Recessive X-linked ichthyosis Recessive X-linked ichthyosis with extracutaneous manifestations Recombinant 8 syndrome Recombinant chromosome 8 syndrome Recrudescent typhus Rectal duplication Rectal neuroendocrine tumor Rectal squamous cell carcinoma Rectus abdominis syndrome Recurrent acute necrotizing encephalopathy Recurrent acute pancreatitis Recurrent encephalophathy of childhood Recurrent hepatitis C virus induced liver disease in liver transplant recipients Recurrent hereditary corneal erosions Recurrent idiopathic neuroretinitis Recurrent infection due to specific granule deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome Recurrent intrahepatic cholestasis of pregnancy Recurrent metabolic encephalomyopathic crisesrhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

ORPHA number 169467 60032 199267 79433 231031 838 97239 523 3221 99995 98826 86839 168960 100019 100020 75564 398063 398063 398063 773 1525 1433 83450 300865 1040 448267 2634 2634 98961 29207 29207 99991 33577 33577 91547 728 412 217330 217330 217330

Disease name

Recurrent Neisseria infections due to factor D deficiency Recurrent respiratory papillomatosis Recurring digital fibrous tumor of childhood Red oculocutaneous albinism Red palms disease RED-M Reducing body myopathy Reed syndrome Refetoff syndrome Reflex sympathetic dystrophy Refractory anemia Refractory anemia with excess blasts Refractory anemia with excess blasts in transformation Refractory anemia with excess blasts type 1 Refractory anemia with excess blasts type 2 Refractory anemia with ringed sideroblasts Refractory CD Refractory celiac disease Refractory sprue Refsum disease Reginato-Schiapachasse syndrome Regional choroidal atrophy and alopecia Regional odontodysplasia Regressive atypical histiocytosis Regressive metaphyseal dysplasia Regressive spondylometaphyseal dysplasia Reinhardt-Pfeiffer mesomelic dysplasia Reinhardt-Pfeiffer syndrome Reis-Bücklers corneal dystrophy Reiter disease Reiter syndrome Relapsing epidemic typhus Relapsing febrile nodular nonsuppurative panniculitis Relapsing febrile nodular panniculitis Relapsing fever Relapsing polychondritis Remnant disease REN-associated familial juvenile hyperuricemic nephropathy REN-associated FJHN REN-associated kidney disease

ORPHA number 217330 411709 1848 93100 2838 319314 319314 1475 93111 93111 93111 93108 93173 93172 3404 →1768 3404 3156

140969 654 1652 34528 31043 93101 97362 97361 319319 71273 171871 18 47159 2785 3033 97367 97369

112

Disease name

REN-related autosomal dominant tubulointerstitial kidney disease Renal agenesis Renal agenesis, bilateral Renal agenesis, unilateral Renal caliceal diverticuli-deafness syndrome Renal cell carcinoma after neuroblastoma Renal cell carcinoma associated with neuroblastoma Renal coloboma syndrome Renal cysts and diabetes syndrome Renal cysts-maturity-onset diabetes of the young syndrome Renal dysfunction-early-onset diabetes syndrome Renal dysplasia Renal dysplasia, bilateral Renal dysplasia, unilateral Renal dysplasia-limb defects syndrome Renal dysplasia-megalocystissirenomelia syndrome Renal dysplasia-mesomeliaradiohumeral fusion syndrome Renal dysplasia-retinal aplasia syndrome Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxiaskeletal dysplasia syndrome Renal embryonic tumor Renal Fanconi syndrome with nephrocalcinosis and renal stones Renal hypomagnesemia type 2 Renal hypomagnesemia type 3 Renal hypoplasia Renal hypoplasia, bilateral Renal hypoplasia, unilateral Renal medullary carcinoma Renal nutcracker syndrome Renal pseudohypoaldosteronism type 1 Renal tubular acidosis type 1 Renal tubular acidosis type 2 Renal tubular acidosis type 3 Renal tubular dysgenesis Renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis of genetic origin Renal tubular normotensive hypokalemic alkalosis with hypercalciuria



142

ORPHA number

Disease name

ORPHA number

Renal tubulopathy254902 encephalopathy-liver failure 857 1092 294415 3032 774 774 93975 100057

100057 294415 3033 3242 494344 73273 424 99832 247257 247257 79127 1662 33355 99002 100000 79145 178307 86900 458763 284247 75326 75326 71213 1574

1571

syndrome Renal-ear-anal-radial syndrome Renal-genital-middle ear anomalies Renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome Rendu-Osler disease Rendu-Osler-Weber disease Renier-Gabreels-Jasper syndrome Renin-angiotensin-aldosterone system-blocker-induced angioedema Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Renohepaticopancreatic dysplasia Renotubular dysgenesis Renpenning syndrome RERE-related neurodevelopmental syndrome Resistance to IGF-1 Resistance to thyroid stimulating hormone Resistance to thyrotropinreleasing hormone syndrome Respiratory anthrax Respiratory anthrax disease Respiratory bronchiolitisinterstitial lung disease syndrome Restrictive dermopathy Reticular dysgenesis Reticular dystrophy of the retinal pigment epithelium Reticular perineurioma Reticular pigment anomaly of flexures Reticulate acropigmentation of Kitamura Reticulum cell sarcoma Retiform hemangioendothelioma Retinal arterial macroaneurysm and supravalvular pulmonic stenosis Retinal arterial tortuosity Retinal arteriolar tortuosity Retinal capillary malformation Retinal degenerationnanophthalmos-glaucoma syndrome Retinal detachment-occipital encephalocele syndrome

Disease name

ORPHA number

Retinal dystrophy with inner

838

397758 nuclear layer and ganglion cell

397758

436245 75326

3018

319640 247691

247691 353356 791 85332

85332

85332

886

494439

494439

140976

3085

3085

3085

436245 52427 790

anomalies Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Retinal dystrophy-juvenile cataract-short stature syndrome Retinal hemorrhage with vascular tortuosity Retinal ischemic syndromedigestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome Retinal macular dystrophy type 2 Retinal vasculopathy and cerebral leukoencephalopathy Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasoproliferative tumor Retinitis pigmentosa Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion Retinitis pigmentosa-deafness syndrome Retinitis pigmentosa-deafnesspremature aging-short staturefacial dysmorphism syndrome Retinitis pigmentosa-hearing losspremature aging-short staturefacial dysmorphism syndrome Retinitis pigmentosahypopituitarism-nephronophthisisskeletal dysplasia syndrome Retinitis pigmentosa-intellectual disability- labyrinthine deafnesshypogenitalism syndrome Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Retinitis punctata albescens Retinoblastoma

3087 2305 40366 2305 352718 90050 139455 3088

838 53540 269200 269200 90050 778 3095 294049 99852

284388 254864 254864 3088 3088 3096 199267 779 244310 251975 71275 71275 69077 231108

3097 780 213802 213615 3099 85408

Disease name

Retinocochleocerebral vasculopathy Retinohepatoendocrinologic syndrome Retinoic acid embryopathy Retinoid embryopathy Retinoids embryopathy Retinol dystrophy-iris colobomacomedogenic acne syndrome Retinopathy of prematurity Retinopathy, Burgess-Black type Retinopathy-anemia-central nervous system anomalies syndrome Retinopathy-encephalopathydeafness associated with microangiopathy Retinoschisis with early nyctalopia Retrocerebellar arachnoid cyst Retrocerebellar cyst Retrolental fibroplasia Rett syndrome Rett syndrome variant Reunion Island Larsen syndrome Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome Reversible cerebral vasoconstriction syndrome Reversible infantile cytochrome C oxidase deficiency Reversible infantile respiratory chain deficiency Revesz syndrome Revesz-DeBuse syndrome Reye syndrome Reye tumor Reynolds syndrome RFT1-CDG RGNT Rh deficiency syndrome Rh-null syndrome Rhabdoid tumor Rhabdoid tumor predisposition syndrome Rhabdomyomatous dysplasiacardiopathy-genital anomalies syndrome Rhabdomyosarcoma Rhabdomyosarcoma of the cervix uteri Rhabdomyosarcoma of the corpus uteri Rheumatic fever Rheumatoid factor-negative JIA



143

ORPHA number 247854 247861 85408

247854

247861

85435

85435 761 177 309789 309796 309803 468717 2831 93569 1453 3098 59315 →1071 140976 217055 254334 369867 435998 97229 440706 141184 1399 240071 2323 3101 →2995 2511 →2353 3102

Disease name

Rheumatoid factor-negative JIA with anti-nuclear antibodies Rheumatoid factor-negative JIA without anti-nuclear antibodies Rheumatoid factor-negative juvenile idiopathic arthritis Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Rheumatoid factor-positive polyarticular JIA Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Rheumatoid purpura Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 2 Rhizomelic chondrodysplasia punctata type 3 Rhizomelic chondrodysplasia punctata type 5 Rhizomelic dysplasia, PattersonLowry type Rhizomelic pseudopolyarthritis Rhizomelic shortness with clavicular defect Rhizomelic syndrome, Urbach type Rhombencephalosynapsis RHS RHYNS syndrome RI-CMT type A RI-CMT type B RI-CMT type C RI-CMT type D Riboflavin transporter deficiency Ribose-5-P isomerase deficiency RICH Richards-Rundle syndrome Richardson syndrome Richardson-Kirk syndrome Richieri Costa-da Silva syndrome Richieri Costa-Guion Almeida syndrome Richieri Costa-Guion AlmeidaRamos syndrome Richieri Costa-Guion AlmeidaRodini syndrome Richieri Costa-Pereira syndrome

ORPHA Disease name number 1784 Richieri-Costa-Colletto syndrome 1794 Richieri-Costa-Gorlin syndrome 28378 606 606 83312 420741 64744 64744 91483 3163 782 319251 99081 99119 99119 99119 99110 99110 99110 97244 97244 1764 217335 217335 96173 1437 96171 96172 1447 251043 1448 1449 1450 1438 96175 1439 96176 1440 96177 96178 1441 1442 1443 1444 1445

Richner-Hanhart syndrome Ricker disease Ricker syndrome Rickettsialpox RIDDLE syndrome Riedel disease Riedel thyroiditis Rieger anomaly Rieger anomaly-partial lipodystrophy syndrome Rieger syndrome Rift valley fever Right aortic arch Right inferior caval vein connecting to left-sided atrium Right inferior vena cava connecting to left-sided atrium Right IVC connecting to left-sided atrium Right superior caval vein connecting to left-sided atrium Right superior vena cava connecting to left-sided atrium Right SVC connecting to left-sided atrium Rigid spine congenital muscular dystrophy Rigid spine syndrome Riley-Day syndrome RIN2 deficiency RIN2 syndrome Ring 9 Ring 1 Ring 2 Ring 3 Ring 4 Ring 5 Ring 6 Ring 7 Ring 8 Ring 10 Ring 11 Ring 12 Ring 13 Ring 14 Ring 15 Ring 16 Ring 17 Ring 18 Ring 19 Ring 20 Ring 21

ORPHA Disease name number 1446 Ring 22 1437 Ring chromosome 1 1437 Ring chromosome 1 syndrome 96171 96171 96172 96172 1447 1447 251043 251043 1448 1448 1449 1449 1450 1450 96173 96173 1438 1438 96175 96175 1439 1439 96176 96176 1440 1440 96177 96177 96178 96178 1441 1441 1442 1442 1443 1443 1444 1444 1445 1445 1446 1446 261529 261529 91481 91481 169 499103 97238 206575

Ring chromosome 2 Ring chromosome 2 syndrome Ring chromosome 3 Ring chromosome 3 syndrome Ring chromosome 4 Ring chromosome 4 syndrome Ring chromosome 5 Ring chromosome 5 syndrome Ring chromosome 6 Ring chromosome 6 syndrome Ring chromosome 7 Ring chromosome 7 syndrome Ring chromosome 8 Ring chromosome 8 syndrome Ring chromosome 9 Ring chromosome 9 syndrome Ring chromosome 10 Ring chromosome 10 syndrome Ring chromosome 11 Ring chromosome 11 syndrome Ring chromosome 12 Ring chromosome 12 syndrome Ring chromosome 13 Ring chromosome 13 syndrome Ring chromosome 14 Ring chromosome 14 syndrome Ring chromosome 15 Ring chromosome 15 syndrome Ring chromosome 16 Ring chromosome 16 syndrome Ring chromosome 17 Ring chromosome 17 syndrome Ring chromosome 18 Ring chromosome 18 syndrome Ring chromosome 19 Ring chromosome 19 syndrome Ring chromosome 20 Ring chromosome 20 syndrome Ring chromosome 21 Ring chromosome 21 syndrome Ring chromosome 22 Ring chromosome 22 syndrome Ring chromosome Y Ring chromosome Y syndrome Ring dermoid of cornea Ring dermoid syndrome Ringed hair disease RINR Rippling muscle disease Rippling muscle disease with myasthenia gravis



144

ORPHA Disease name number 7 Ritscher-Schinzel syndrome 1803 Rivera-Perez-Salas syndrome 294049 RLS 93307 rMED 420741 RNF168 deficiency 71273 3103 3103 3104 97360 97360 3105 97360 →794 2780 529 83311 49382 49382 49827 293987 293987 353298 221139 →1855 247775 3109 1945 163727

163721 101016 101016 1214 3110 90050 158014 158014 1837 329 329 251975 2909 221008 221016

RNS Roberts syndrome Roberts-SC phocomelia syndrome Robin sequence-oligodactyly syndrome Robinow dwarfism Robinow syndrome Robinow-like syndrome Robinow-Silverman-Smith syndrome Robinow-Sorauf syndrome Robinow-Unger syndrome Roch-Leri mesosomatous lipomatosis Rocky Mountain spotted fever Rod monochromacy Rod monochromatism Rogers syndrome ROHHAD ROHHADNET Roifman syndrome Roifman-Chitayat syndrome Roifman-Melamed syndrome Rokitansky sequence Rokitansky syndrome Rolandic epilepsy Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Rolandic epilepsy-speech dyspraxia syndrome Romano-Ward long QT syndrome Romano-Ward syndrome Romberg syndrome Rombo syndrome ROP Rosaï-Dorfman disease Rosaï-Dorfman-Destombes disease Rosenberg-Lohr syndrome Rosenthal factor deficiency Rosenthal syndrome Rosette-forming glioneuronal tumor of fourth ventricule Rothmund-Thomson syndrome Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome type 2

ORPHA Disease name number 3111 Rotor syndrome 171709 Round-headed sperm syndrome 3115 1323 1323 280569 1507 818 293848 231108 2909 221008 221016 83616 783 353281 353277 353284 1768 →798 79433 435953 1672 1672 1834 2709 3121 247691 247691 293848 461 16 16 3105 319239 3124 3124 286 98841 3027

397927

→83628 2351 3027

Roussy-Lévy syndrome Rozin-camptodactyly syndrome Rozin-Hertz-Goodman syndrome RPGN RRS RSH syndrome RTLA RTPS RTS RTS1 RTS2 Rubella panencephalitis Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rudd-Klimek syndrome Rudiger syndrome Rufous oculocutaneous albinism Ruijs-Aalfs syndrome Russell diencephalic cachexia Russell syndrome Russell-Weaver-Bull syndrome Rutherfurd syndrome Ruvalcaba syndrome RVCL RVCL-S rvFTD RXLI S cone monochromacy S cone monochromatism Saal-Greenstein syndrome Sabia hemorrhagic fever Saccharopine dehydrogenase deficiency Saccharopinuria Sack-Barabas syndrome sACL Sacral agenesis syndrome Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome Sacral hemangiomas-multiple congenital abnormalities syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome

ORPHA number 1773 494421 85165 794

2872

300493 83484 2256 1409 2613 140969 404499 213557 213557 309334 370938 112 112 2230 369992 53721 397623 228123 96167 796 309169 309155 309162 71272 70595 2378 581 79269 79270 79271 79272 2323 588 79263 79263 2155 98868 247234 793 54368

Disease name

Sacrococcygeal dysgenesis association Sacrococcygeal teratoma SADDAN Saethre-Chotzen syndrome Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis Sagliker syndrome Saint Louis encephalitis Saito-Kuba-Tsuruta syndrome Salamon syndrome Salcedo syndrome Saldino-Mainzer syndrome Salih ataxia Salivary gland type cancer of the breast Salivary gland type carcinoma of the breast Salla disease Salt-and-pepper syndrome Salt-losing tubular disorder, Henle's loop type Salt-wasting tubulopathy, Henle's loop type Salti-Salem syndrome SAM syndrome SAMS 1-31 SAMS syndrome San Joaquin valley fever San Luis Valley syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile form Sandifer syndrome SANDO Sandrow syndrome Sanfilippo disease Sanfilippo syndrome type A Sanfilippo syndrome type B Sanfilippo syndrome type C Sanfilippo syndrome type D Sanjad-Sakati syndrome Santavuori congenital muscular dystrophy Santavuori disease Santavuori-Haltia disease Santos-Mateus-Leal syndrome SAO SAOA SAPHO syndrome Sarcocystosis



145

ORPHA Disease name number 797 Sarcoidosis 3129 3129 54368 1878 3130 330015 425120 3047 2013 3132 3133 3369 3047 79157 481 3103 3103 98755 98756 98757 276238 276244 276241 98765 98766 98758 94147 98760 98761 98767 98762 98768 98763 98769 →98769 98759 98771 98772 101110 98773 →98772 101108 101111 101112 98764 101109 208513 211017 217012 276183 1955

Sarcosine dehydrogenase complex deficiency Sarcosinemia Sarcosporidiosis Sarcotubular myopathy Satoyoshi syndrome Saturnism SAVI Say-Barber-Biesecker-YoungSimpson syndrome Say-Barber-Hobbs syndrome Say-Barber-Miller syndrome Say-Field-Coldwell syndrome Say-Meyer syndrome SBBYSS SBCAD deficiency SBMA SC phocomelia SC pseudothalidomide syndrome SCA1 SCA2 SCA3 SCA3, Joseph type SCA3, Machado type SCA3, Thomas type SCA4 SCA5 SCA6 SCA7 SCA8 SCA10 SCA11 SCA12 SCA13 SCA14 SCA15/16 SCA16 SCA17 SCA18 SCA19/22 SCA20 SCA21 SCA22 SCA23 SCA25 SCA26 SCA27 SCA28 SCA29 SCA30 SCA31 SCA32 SCA34

ORPHA number 276193 SCA35 276198 SCA36

Disease name

ORPHA number 314978 SCAX5 284400 SCCB

363710 SCA37 423296 SCA38 423275 SCA40

370396 SCCO 98967 SCD

458798 SCA41 458803 SCA42

420402 SCD syndrome 449280 Scedosporiosis

497764 SCA43 95433 SCABD

399329 SCFE 398069 Schaaf-Yang syndrome

26792

SCAD deficiency

26792 SCADD 254881 SCAE 1003 370052 2036 64753 94124 840 168624 2839 431255 431255 64753 1170 95433 95434 83472 284332 284324 88644 139485 284289 284271 284282 324262 352403 404499 412057 453521 363432 448251 397709 466794 404493 3134 90080 95434 85297 85292

Scalp defects-postaxial polydactyly syndrome SCALP syndrome Scalp-ear-nipple syndrome SCAN 2 SCAN1 SCAP Scaphocephaly-macrocephalymaxillary retrusion-intellectual disability syndrome Scapuloiliac dysostosis Scapuloperoneal neuronopathy Scapuloperoneal spinal muscular atrophy SCAR1 SCAR2 SCAR3 SCAR4 SCAR5 SCAR6 SCAR7 SCAR8 SCAR9 SCAR10 SCAR11 SCAR12 SCAR13 SCAR14 SCAR15 SCAR16 SCAR17 SCAR18 SCAR19 SCAR20 SCAR21 SCAR23 SCARF syndrome Scarring in glaucoma filtration surgical procedures SCASI SCAX3 SCAX4

98967

Disease name

1383

SCCD

Schaap-Taylor-Baraitser syndrome

71212 SCHAD deficiency 370039 Schauder syndrome 93474 2353 59298 59298 1830 1830 2612 3137 79279 79280 79281 3138 798 63862 1247 799 98973 3143 2252 3144 37748 98967 98967 98967 3145 3041 50944 93921 800 800 3206 800 277 275 357237

Scheie syndrome Schilbach-Rott syndrome Schilder disease Schilder's disease Schimke immuno-osseous dysplasia Schimke syndrome Schimmelpenning syndrome Schindler disease Schindler disease type 1 Schindler disease type 2 Schindler disease type 3 Schinzel syndrome Schinzel-Giedion syndrome Schisis association Schistosomiasis Schizencephaly Schlichting dystrophy Schmidt syndrome Schmitt-Gillenwater-Kelly syndrome Schneckenbecken dysplasia Schnitzler syndrome Schnyder corneal dystrophy Schnyder crystalline corneal dystrophy Schnyder crystalline dystrophy sine crystals Schofer-Beetz-Bohl syndrome Scholte-Begeer-van Essen syndrome Schöpf-Schulz-Passarge syndrome Schwannomatosis Schwartz-Jampel syndrome Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome type 2 Schwartz-Jampel-Aberfeld syndrome SCID due to adenosine deaminase deficiency SCID due to ARTEMIS deficiency SCID due to CARD11 deficiency



146

ORPHA number 331206 228003 228003 420573 275 317425 397787 280142 280142 33355 275 275 276 185 70573 352763 75840 384 167635 90400

75325 63999 238593 100001 3152 384 188 1671 331176 466677 832 1514 806 1514 1509 86813 83317 794 295193 295189 295191 295187 295187 295189 295191 295193 295197 295199 295195

Disease name

SCID due to complete RAG1/2 deficiency SCID due to CORO1A deficiency SCID due to coronin-1A deficiency SCID due to CTPS1 deficiency SCID due to DCLRE1C deficiency SCID due to DNA-PKcs deficiency SCID due to IKK2 deficiency SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency SCID with leukopenia SCID, Athabascan type SCID, Athabaskan type SCIDX1 Scimitar syndrome SCLC Scleredema Scleroatonic muscular dystrophy Scleroatrophic syndrome Scleromyxedema Scleromyxedema without monoclonal gammopathy Sclerosing dysplasia of boneichthyosis-premature ovarian failure syndrome Sclerosing mediastinitis Sclerosing mesenteritis Sclerosing perineurioma Sclerosteosis Sclerotylosis SCLS SCM type 1 SCN4 Scorpion envenomation SCOT deficiency Scott craniodigital syndrome Scott syndrome Scott-Bryant-Graham syndrome Scott-Taor syndrome SCRA Scrub typhus SCS SD1, Castilla type SD1, Lueken type SD1, Montagu type SD1, Weidenreich type SD1a SD1b SD1c SD1d SD2, Debeer type SD2, Malik type SD2, Vordingborg type

ORPHA number 295195 SD2a 295197 SD2b

Disease name

295199 SD2c 93404 SD3 93406 SD5 84064

SD/THE

263463 SDCD, CHST3 type 168577 sdCHC 300869 SDRPL 811

SDS

373 SDYS 158029 Sea-blue histiocytosis

Seaver-Cassidy syndrome Sebaceous nevus-central nervous system malformations-aplasia cutis 370052 congenital-limbal dermoidpigmented nevus syndrome Sebaceous nevus-CNS malformations-aplasia cutis 370052 congenital-limbal dermoidpigmented nevus syndrome →182050 Sebastian syndrome 841 Sebocystomatosis Seborrhea-like dermatitis with 168606 psoriasiform elements 79480 Seborrheic pemphigus 98873 SEC23B-CDG 808 Seckel syndrome 141022 Second branchial cleft anomaly 141022 Second branchial cleft cyst 141022 Second branchial cleft fistula Secondary acute transverse 139420 myelitis 85445 Secondary amyloidosis Secondary central precocious 169618 puberty 314962 Secondary HES Secondary hypereosinophilic 314962 syndrome Secondary hypertrophic 2615 osteoperiostosis with pernio Secondary hypoparathyroidism 140286 due to impaired parathormon secretion Secondary intestinal 90363 lymphangiectasia Secondary non-traumatic 399180 avascular necrosis 399180 Secondary non-traumatic AVN 3452 Secondary non-tropical sprue 439746 Secondary PAN 420259 Secondary PAP 439746 Secondary periarteritis nodosa 439746 Secondary polyarteritis nodosa

ORPHA number 420259 99930 447774 95427 99857 364055 459051 163654 94068 567 647

1778

2528 251618 2759 67039

137608

314662 455 35069 79156 466926

199343

35858 183675 331235 331235 165994 99798 281122 90397 65748 281122 281122 →1768 3232 100069 100069

Disease name

Secondary pulmonary alveolar proteinosis Secondary pulmonary hemosiderosis Secondary sclerosing cholangitis Secondary short bowel syndrome Secondary syringomyelia SECORD SED, Stanescu type SED-BDS SEDC Sedlackova syndrome Seemanova syndrome type 2 Seemanova-Lesny syndrome SEGA Seghers syndrome Segmental odontomaxillary dysplasia Segmental outgrowth-lipomatosisarteriovenous malformationepidermal nevus syndrome Segmental progressive overgrowth syndrome with fibroadipose hyperplasia SEI Seitelberger disease Seizures-intellectual disability due to hydroxylysinuria syndrome Seizures-scoliosis-macrocephaly syndrome Seizures-sensorineural deafnessataxia-intellectual disabilityelectrolyte imbalance syndrome Selective cobalamin malabsorption with proteinuria Selective IgG subclass deficiency Selective IgM deficiency Selective immunoglobulin M deficiency Selective pituitary resistance to thyroid hormone Selective tooth agenesis Self-healing collodion baby Self-healing papular mucinosis Self-healing squamous epithelioma type 1 Self-improving collodion baby Self-improving congenital ichthyosis Selig-Benacerraf-Greene syndrome Sellars-Beighton syndrome Semantic dementia Semantic primary progressive aphasia



147

ORPHA Disease name number 100069 Semantic variant PPA 93356 SEMD type 2 171866 SEMD, aggrecan type 168454 SEMD, Geneviève type 93351 SEMD, Irapa type 156728 SEMD, MATN3-related 156728 SEMD, matrilin-3 type 93356 93352 93359 93360 168454 93359 93360 420402 90160 220386 842 842 329284 79480

397596

1369 2183 330001 1292 84081 3156 1515 217622

857

217622

2663

66633 97229

70595 477 90118 228374 70594

SEMD, Missouri type SEMD, Shohat type SEMD-JL SEMD-MD SEMDG SEMDJL1 SEMDJL2 Semicircular canal dehiscence syndrome Semicircular lipoatrophy Semilobar holoprosencephaly Seminoma of testis Seminomatous germ cell tumor of testis SENDA Senear-Usher syndrome Senescent T-cellslymphadenopathyimmunodeficiency syndrome due to p110delta-activating mutation Sengers syndrome Sengers-Hamel-Otten syndrome Senile systemic amyloidosis Senior syndrome Senior-Boichis syndrome Senior-Loken syndrome Sensenbrenner syndrome Sensorineural deafness with dilated cardiomyopathy Sensorineural deafness with imperforate anus and hypoplastic thumbs Sensorineural hearing loss with dilated cardiomyopathy Sensorineural hearing losscataract-skeletal anomaliescardiomyopathy syndrome Sensorineural hearing loss-early graying-essential tremor syndrome Sensorineural hearing losspontobulbar palsy syndrome Sensory ataxic neuropathydysarthria-ophthalmoparesis syndrome Senter syndrome SEOAN due to MFN2 deficiency SEOAN due to NEFL deficiency Sepiapterin reductase deficiency

ORPHA Disease name number 90051 Sepsis in premature infants 180154 Septate vagina 137839 3157 3157 280195 280195 139466 43116 43116 43116 43116 43116 424073 206470 168829 →955 35686 157798 75508 199343 1807 85165

438207

254930 254930 314911 277

275

357237

331206

228003

228003

Septic phlebitis of the internal jugular vein Septo-optic dysplasia Septo-optic dysplasia spectrum Septopreoptic holoprosencephaly Septopreoptic HPE SERKAL syndrome Serotonergic syndrome Serotonin storm Serotonin syndrome Serotonin toxicity Serotonin toxidrome Serous cystadenocarcinoma of the pancreas Serous or mucinous cystadenoma of childhood Serous surface papillary carcinoma Serpentine fibula-polycystic kidneys syndrome Serpiginous choroiditis Serrated polyposis Servelle-Martorell syndrome SeSAME syndrome Setleis syndrome Severe achondroplasiadevelopmental delay-acanthosis nigricans syndrome Severe autosomal recessive macrothrombocytopenia Severe C12ORF65-related combined oxidative phosphorylation defect Severe C12ORF65-related COXPD Severe Canavan disease Severe combined immunodeficiency due to adenosine deaminase deficiency Severe combined immunodeficiency due to ARTEMIS deficiency Severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to CORO1A deficiency Severe combined immunodeficiency due to coronin1A deficiency

ORPHA number

Disease name

Severe combined 420573 immunodeficiency due to CTPS1

deficiency Severe combined 275 immunodeficiency due to DCLRE1C deficiency Severe combined 317425 immunodeficiency due to DNAPKcs deficiency Severe combined 397787 immunodeficiency due to IKK2 deficiency Severe combined 280142 immunodeficiency due to LCK deficiency Severe combined immunodeficiency due to 280142 lymphocyte-specific protein tyrosine kinase deficiency Severe combined 33355 immunodeficiency with leukopenia Severe combined 275 immunodeficiency, Athabascan type Severe combined 275 immunodeficiency, Athabaskan type Severe congenital encephalopathy 209370 due to MECP2 mutation Severe congenital hypochromic 300298 anemia with ringed sideroblasts Severe congenital hypochromic 300298 sideroblastic anemia Severe congenital nemaline 171430 myopathy Severe congenital neutropenia 99749 type 3 Severe congenital neutropenia 331176 type 4 Severe congenital neutropeniapulmonary hypertension331176 superficial venous angiectasis syndrome Severe dermatitis-multiple 369992 allergies-metabolic wasting syndrome Severe dilated cardiomyopathy →300751 due to lamin A/C mutation Severe dilated cardiomyopathy →300751 with or without myopathy Severe dystrophinopathy, 98896 Duchenne type Severe early-childhood-onset 364055 retinal dystrophy Severe early-onset axonal 228374 neuropathy due to light neurofilament subunit deficiency



148

ORPHA number

Disease name

ORPHA number

Severe early-onset axonal 90118 neuropathy due to MFN2 228374

329249

440427 169793 169802 352577 79408 79408

488627

2109 466026 169802 169793 745

743

467176

98920

404521

280763

420561

466688

94066

deficiency Severe early-onset axonal neuropathy due to NEFL deficiency Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Severe factor IX deficiency Severe factor VIII deficiency Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Severe generalized RDEB Severe generalized recessive dystrophic epidermolysis bullosa Severe growth deficiencystrabismus-extensive dermal melanocytosis-intellectual disability syndrome Severe Hallermann-StreiffFrançois syndrome Severe hemolytic anemia due to G6PD deficiency Severe hemophilia A Severe hemophilia B Severe hereditary thrombophilia due to congenital protein C deficiency Severe hereditary thrombophilia due to congenital protein S deficiency Severe hypotonia-psychomotor developmental delay-strabismuscardiac septal defect syndrome Severe infantile axonal neuropathy with respiratory failure type 1 Severe infantile axonal neuropathy with respiratory failure type 2 Severe intellectual disability and progressive spastic paraplegia Severe intellectual disabilityaplasia/hypoplasia of thumb and hallux syndrome Severe intellectual disabilitycorpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Severe intellectual disabilityepilepsy-anal anomalies-distal phalangeal hypoplasia

Disease name

ORPHA number

Severe intellectual disability438178 epilepsy-cataract syndrome due to

438178

438178

436141

363686

397933

404473

391307

324307 2879 1236

369939

33069 33069

314655

397593 209370 363400 363400

500545

216812

FAR1 deficiency Severe intellectual disabilityepilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency Severe intellectual disabilityepilepsy-cataract syndrome due to peroxisomal disorder Severe intellectual disabilityhypotonia-strabismus-coarse faceplanovalgus syndrome Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Severe intellectual disabilityprogressive postnatal microcephaly-midline stereotypic hand movements syndrome Severe intellectual disabilityprogressive spastic diplegia syndrome Severe intellectual disability-short stature-behavioral abnormalitiesfacial dysmorphism syndrome Severe lateral tibial bowing with short stature Severe limb deficit Severe microbrachycephalyintellectual disability-athetoid cerebral palsy syndrome Severe motor and intellectual disabilities-sensorineural deafnessdystonia syndrome Severe myoclonic epilepsy of infancy Severe myoclonus epilepsy of infancy Severe neonatal hypotoniaseizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Severe neonatal-onset encephalopathy with microcephaly Severe neurodegenerative syndrome due to BSCL2 deficiency Severe neurodegenerative syndrome with lipodystrophy Severe neurodevelopmental disorder with feeding difficultiesstereotypic hand movementbilateral cataract Severe osteogenesis imperfecta

Disease name

Severe 411543 phosphoribosylpyrophosphate

synthetase superactivity 280210 Severe PMD 468726 Severe primary trimethylaminuria 411543 411543 163703

169095

3078 238329 363489 139466 3162 3162 488232 373 373 79022 457083 2063 35710 69076 2462 798 2407 897 29822 1506 809 281122 91355 1147 3329 2440 3329 90038 810 158014 1008 99063 251515 26792 66518

Severe PRPP synthetase superactivity Severe PRPS1 superactivity Severe refractory status epilepticus owing to presumed encephalitis Severe T-cell immunodeficiencycongenital alopecia-nail dystrophy syndrome Severe X-linked intellectual disability, Gustavson type Severe X-linked mitochondrial encephalomyopathy Sex cord-stromal tumor of testis Sex reversion-kidneys, adrenal and lung dysgenesis syndrome Sézary lymphoma Sézary syndrome SFMMP SGBS SGBS1 SGBS2 SGF SGFLD syndrome SGLT1 deficiency SGLT2 deficiency SGS SGS Shabbir syndrome Shah-Waardenburg syndrome Shapiro syndrome Sharma-Kapoor-Ramji syndrome Sharp syndrome SHCB Sheehan syndrome Sheldon-Hall syndrome SHFLD syndrome SHFM SHFM associated with aplasia of long bones Shiga-like toxin-associated HUS Shigellosis SHML Shokeir syndrome Shone complex Short Achilles tendon Short chain acyl-CoA dehydrogenase deficiency Short fifth metacarpals-insulin resistance syndrome



149

ORPHA Disease name number 294996 Short fingers 295130 Short fingers, bilateral 295128 Short fingers, unilateral 935 93270 93269 93271 93268 498497 93268 93269 93270 93271 →1263 314811 629 633

314811

632

314802

314802

140941 220465 2867 435804

397623

464288

Short limb skeletal dysplasia with SCID Short rib-polydactyly syndrome type 1 Short rib-polydactyly syndrome type 2 Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome type 4 Short rib-polydactyly syndrome type 5 Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type Short ribs-craniosynostosispolysyndactyly syndrome Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to growth hormone resistance Short stature due to growth hormone secretagogue receptor deficiency Short stature due to isolated growth hormone deficiency with Xlinked hypogammaglobulinemia Short stature due to partial GHR deficiency Short stature due to partial growth hormone receptor deficiency Short stature due to primary acidlabile subunit deficiency Short stature due to STAT5b deficiency Short stature, Brussels type Short stature-advanced bone ageearly-onset osteoarthritis syndrome Short stature-auditory canal atresia-mandibular hypoplasiaskeletal anomalies syndrome Short stature-brachydactylyobesity-global developmental delay syndrome

ORPHA number 2994

2866

171706

488618

2332

→2995

420794

1937

423454

314394

391677

3102

3102

85442

2868

2865 2863 3163 2832 251515 294998 295134 295132

Disease name

Short stature-craniofacial anomalies-genital hypoplasia syndrome Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Short stature-delayed bone age due to thyroid hormone metabolism deficiency Short stature-developmental delay-congenital heart defect syndrome Short stature-facial and skeletal anomalies-intellectual disabilitymacrodontia syndrome Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome Short stature-locking fingers syndrome Short stature-nail dysplasiamarginal palmoplantar keratoderma-oral hyperpigmentation syndrome Short stature-onychodysplasiafacial dysmorphism-hypotrichosis syndrome Short stature-optic atrophyPelger-Huët anomaly syndrome Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome Short stature-valvular heart disease-characteristic facies syndrome Short stature-webbed neck-heart disease syndrome Short stature-wormian bonesdextrocardia syndrome SHORT syndrome Short tarsus-absence of lower eyelashes syndrome Short tendo calcaneus Short toes Short toes, bilateral Short toes, unilateral

ORPHA number

Disease name

Short ulna-dysmorphism357175 hypotonia-intellectual disability

57145

935

79157

2580

→392 314795 567 2462 3165 811 811 811 812 87876 3166 3166 98920 →33364 611 281122 232 232 251359 251365 251370 251375 210272 838 168593 54028 3167 →244 369861 314786 71276 3168 60014 100998

syndrome Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing Short-limb skeletal dysplasia with severe combined immunodeficiency Short/branched-chain acyl-coA dehydrogenase deficiency Shoulder and girdle defectsfamilial intellectual disability syndrome Shoulder and thorax deformitycongenital heart disease syndrome SHOX-related short stature Shprintzen syndrome Shprintzen-Goldberg syndrome Shulman syndrome Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond syndrome Sialidosis type 1 Sialidosis type 2 Sialuria Sialuria, French type SIANRF SIBIDS syndrome sIBM SICI Sickle cell anemia Sickle cell disease Sickle cell-beta-thalassemia disease syndrome Sickle cell-hemoglobin C disease syndrome Sickle cell-hemoglobin D disease syndrome Sickle cell-hemoglobin E disease syndrome Sickness of disembarkment SICRET syndrome SIDDT Sideropenic dysphagia Siegler-Brewer-Carey syndrome Siewert syndrome SIFD syndrome Silent pituitary adenoma Silent sinus syndrome Sillence syndrome Silver staining Silver syndrome



150

ORPHA Disease name number 813 Silver-Russell dwarfism 813 Silver-Russell syndrome 231137 231137 231144 397590 231140 231137

96182

231147

231137 231137 1968 1968 91139 373 373 373 79022 500163

500166 97337 50809 2286 439755 439755 439755 85191 85191 1260 324321 158014 890 247698

Silver-Russell syndrome due to 7p11.2-p13 microduplication Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to a point mutation Silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome due to trisomy 7p11.2-p13 Silver-Russell syndrome due to trisomy 7p11.2p13 Simosa craniofacial syndrome Simosa-Penchaszadeh-Bustos syndrome Simple cryoglobulinemia Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 SIN3A-related intellectual disability syndrome SIN3A-related intellectual disability syndrome due to a point mutation Sinding-Larsen-Johansson disease Singh-Williams-McAlister syndrome Single upper central incisor Single-organ PAN Single-organ periarteritis nodosa Single-organ polyarteritis nodosa Singleton-Merten dysplasia Singleton-Merten syndrome Sino-auricular heart block Sinoatrial node dysfunction and deafness Sinus histiocytosis with massive lymphadenopathy Sinusoidal obstruction syndrome Sipple syndrome

ORPHA Disease name number 3169 Sirenomelia 2882 Sitosterolemia 157769 Situs ambiguous 157769 Situs ambiguus 101063 Situs inversus

ORPHA Disease name number 83418 SMA type 2 83419 SMA type 3 83420 SMA type 4 83330 83418

101063 Situs inversus totalis 488437 SIX2-related FND

83419

488437 SIX2-related frontonasal dysplasia 816 Sjögren-Larsson syndrome

83330 83418

800 800 3206 95455 1426 2565 1858

477831

293165

293165 178475 178475 52503 238459 356961 370943 99843 3144 468699 468699 93552 3385 399329 399329 88633 818 70472 3156 584 98849 98849 70 83330 83418 83419 83420 83330

SJS SJS1 SJS2 SJS-TEN Skeletal dysplasia, Greenberg type Skeletal dysplasia-brachydactyly syndrome Skeletal dysplasia-epilepsy-short stature syndrome Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skinwhite matter lesions syndrome Skin fragility-woolly hairpalmoplantar hyperkeratosis syndrome Skin fragility-woolly hairpalmoplantar keratoderma syndrome Skin infectious botulism Skin toxin-mediated botulism SLC6A8 deficiency SLC35A1-CDG SLC35A2-CDG SLC35A3-CDG SLC35C1-CDG SLC35D1-CDG SLC39A8 deficiency SLC39A8-CDG SLE, pediatric onset Sleeping sickness Slipped capital femoral epiphysis Slipped upper femoral epiphysis SLK SLOS SLSJ-COX deficiency SLSN Sly disease SM-AHN SM-AHNMD SMA SMA1 SMA2 SMA3 SMA4 SMA type 1

83420

83419 83420 486811 209335 363447 209341 363454 284400 284400 284400 370396 284400 70573 370396 838 1201 67038 543 1509 466962 466962 98920 404521 481 1145 139557 98959 85167 33069 93974 457485 818 819 178355 2286 488168 158775 3198 86854

SMA type I SMA type II SMA type III SMA type IV SMA-I SMA-II SMA-III SMA-IV SMABF SMAFK SMALED SMALED1 SMALED2 Small cell bladder cancer Small cell bladder carcinoma Small cell carcinoma of the bladder Small cell carcinoma of the ovary Small cell carcinoma of the urinary bladder Small cell lung cancer Small cell ovarian carcinoma Small infarctions of cochlear, retinal and encephalic tissue Small intestinal atresia Small lymphocytic lymphoma Small non-cleaved cell lymphoma Small patella syndrome SMARCA4-deficient sarcoma of thorax SMARCA4-deficient thoracic sarcoma SMARD1 SMARD2 SMAX1 SMAX2 SMAX3 SMCD SMD-CRD SMEI Smith-Fineman-Myers syndrome Smith-Kingsmore syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia SMMCI SMO deficiency Smouldering systemic mastocytosis SMS SMZL



151

ORPHA Disease name number 449285 Snakebite envenomation 820 Sneddon syndrome 48377 91496 3063 3157 67039 306577 99903 314394 100002 2234 137608 97230 424065 424065 83468 2126 79455 2286 100035 86855 209964 2612 314769 314769 314769 97283 2564 1064 1529 1355 391677 59181 1471 821 420179 98868 352403 352403 79132 279882 1182

Sneddon-Wilkinson disease Snowflake vitreoretinal degeneration Snyder-Robinson syndrome SOD SOD Sodium channelopathy-related small fiber neuropathy Sodoku SOFT syndrome Soft tissue perineurioma Sohval-Soffer syndrome SOLAMEN syndrome Solar urticaria Solid pseudopapillary carcinoma of the pancreas Solid pseudopapillary neoplasm of the pancreas Solitary bone cyst Solitary fibrous tumor Solitary mastocytoma Solitary median maxillary central incisor syndrome Solitary necrotic nodule of the liver Solitary plasmacytoma Solitary rectal ulcer syndrome Solomon syndrome Somatolactotropinoma Somatomammotropinoma Somatoprolactinoma Somatostatinoma Sommer-Hines syndrome Sommer-Rathbun-Battles syndrome Sommer-Young-Wee-Frye syndrome Sonoda syndrome SOPH syndrome Sorsby pseudoinflammatory fundus dystrophy Sorsby syndrome Sotos syndrome Sotos syndrome 2 Southeast Asian ovalocytosis SPARCA SPARCA1 Sparse hair-short stature-skin anomalies syndrome Spasmus nutans Spastic ataxia with congenital miosis

ORPHA number 2572 2572 99015 99015 100990

2815

101003

139480

139480 431329 99015 99013 100998 2816 2819 2818

2822

2820 2821 320406 329475 2826 464282 100996

464282

3011

Disease name

Spastic ataxia-corneal dystrophy syndrome Spastic ataxia-ocular anomalies syndrome Spastic gait type 2 Spastic paraparesis type 2 Spastic paraparesis-amyopathycataracts-gastroesophageal reflux syndrome Spastic paraparesis-deafness syndrome Spastic paraparesis-vitiligopremature graying-characteristic facies syndrome Spastic paraplegia due to neuropathy target esterase mutation Spastic paraplegia due to NTE mutation Spastic paraplegia due to partial TFG deficiency Spastic paraplegia type 2 Spastic paraplegia type 7 Spastic paraplegia-amyotrophy of hands and feet Spastic paraplegia-epilepsyintellectual disability syndrome Spastic paraplegia-facialcutaneous lesions syndrome Spastic paraplegia-glaucomaintellectual disability syndrome Spastic paraplegia-intellectual disability-thin corpus callosum syndrome Spastic paraplegia-nephritisdeafness syndrome Spastic paraplegia-neuropathypoikiloderma syndrome Spastic paraplegia-optic atrophyneuropathy syndrome Spastic paraplegia-Paget disease of bone syndrome Spastic paraplegia-precocious puberty syndrome Spastic paraplegia-psychomotor retardation-seizures syndrome Spastic paraplegia-retinal degeneration syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

ORPHA number

Disease name

Spastic quadriplegia-thin corpus 447997 callosum-progressive postnatal

microcephaly syndrome 210141 Spastic quadriplegic cerebral palsy 3011

447997

401866 251282 397946 314603 254343 313772 98 1182 158 295195 295197 295199 295197 295199 295195 352403 352403 209908 209908 →2909 2816 1855 →1855 99865 306617 99015 100985 100986 100988 99013 100989 100990 100991 2822 100993 100994 100995 100996 100997 100998

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Spasticity-ataxia-gait anomalies syndrome SPAX1 SPAX2 SPAX3 SPAX4 SPAX5 SPAX6 SPAX7 SPCD SPD1 SPD2 SPD3 SPD, Debeer type SPD, Malik type SPD, Vordingborg type Spectrin-associated autosomal recessive cerebellar ataxia Spectrin-associated autosomal recessive cerebellar ataxia type 1 Speech and language disorder with orofacial dyspraxia Speech-language disorder type 1 Spellacy-Gibbs-Watts syndrome SPEMR SPENCD SPENCDI Spermatocytic seminoma SPG1 SPG2 SPG4 SPG5A SPG6 SPG7 SPG8 SPG9 SPG10 SPG11 SPG12 SPG13 SPG14 SPG15 SPG16 SPG17



152

ORPHA number 209951 SPG18 100999 SPG19 101000 SPG20 101001 SPG21 101003 SPG23 101004 SPG24 101005 SPG25 101006 SPG26 101007 SPG27 101008 SPG28 101009 SPG29 101010 SPG30 101011 SPG31 171622 SPG32 171607 SPG34 171629 SPG35 320365 SPG36 171612 SPG37 171617 SPG38 139480 SPG39 320355 SPG41

Disease name

ORPHA Disease name number 268129 Spheroid body myopathy 3449 306553 79264 314432 268369 3176 53721 1217 90058 1145 98920 404521

171863 SPG42 320370 SPG43

83420

320401 SPG44 320396 SPG45

73245

320391 SPG46 306511 SPG48 320385 SPG49 319199 SPG53 320380 SPG54 320375 SPG55 320411 SPG56 431329 SPG57 397946 SPG58 401795 SPG59 401800 SPG60 401780 SPG61 401785 SPG62 401805 SPG63 401810 SPG64 320396 SPG65 401815 SPG66 401820 SPG67 401825 SPG68

2590

210584 210584 1955 412057 453521 404493 98755 98756 98757 276238

401830 SPG69 401835 SPG70

276244

401840 SPG71 401849 SPG72

98766 98758

444099 SPG73 468661 SPG74

94147

459056 SPG75 488594 SPG76

98761 98767

466722 SPG77

98762

98765

98760

Spherophakia-brachymorphia syndrome Spherulocytosis Spielmeyer-Vogt disease Spigelian hernia-cryptorchidism syndrome Spina bifida aperta Spina bifida-hypospadias syndrome Spinal arteriovenous metameric syndrome Spinal atrophy-ophthalmoplegiapyramidal syndrome Spinal cord injury Spinal muscular atrophy with arthrogryposis Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy, adult form Spinal muscular atrophy-DandyWalker malformation-cataracts syndrome Spinal muscular atrophyprogressive myoclonic epilepsy syndrome Spindle cell hemangioendothelioma Spindle cell hemangioma Spinocerebellar ataxia and erythrokeratodermia Spinocerebellar ataxia autosomal recessive type 16 Spinocerebellar ataxia autosomal recessive type 17 Spinocerebellar ataxia autosomal recessive type 23 Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 3, Joseph type Spinocerebellar ataxia type 3, Machado type Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12

ORPHA Disease name number 98768 Spinocerebellar ataxia type 13 98763 Spinocerebellar ataxia type 14 98769 Spinocerebellar ataxia type 15/16 →98769 Spinocerebellar ataxia type 16 98759 Spinocerebellar ataxia type 17 98771 Spinocerebellar ataxia type 18 98772

Spinocerebellar ataxia type 19/22

101110 Spinocerebellar ataxia type 20 98773 Spinocerebellar ataxia type 21 →98772 Spinocerebellar ataxia type 22 101108 Spinocerebellar ataxia type 23 101111 Spinocerebellar ataxia type 25 101112 Spinocerebellar ataxia type 26 98764

Spinocerebellar ataxia type 27

101109 Spinocerebellar ataxia type 28 208513 Spinocerebellar ataxia type 29 211017 Spinocerebellar ataxia type 30 217012 Spinocerebellar ataxia type 31 276183 Spinocerebellar ataxia type 32 1955 Spinocerebellar ataxia type 34 276193 Spinocerebellar ataxia type 35 276198 Spinocerebellar ataxia type 36 363710 Spinocerebellar ataxia type 37 423296 Spinocerebellar ataxia type 38 423275 Spinocerebellar ataxia type 40 458798 Spinocerebellar ataxia type 41 458803 Spinocerebellar ataxia type 42 497764 Spinocerebellar ataxia type 43 363710 94124 64753 254881 276241 2074 1185 3177 99903 757 300869 300869 86854 2063 47612

Spinocerebellar ataxia with altered vertical eye movements Spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia with epilepsy Spinocerebellar ataxia, Thomas type Spinocerebellar ataxiaamyotrophy-deafness syndrome Spinocerebellar ataxiadysmorphism syndrome Spinocerebellar degenerationcorneal dystrophy syndrome Spirillary rat-bite fever Spitzer-Weinstein syndrome Splenic diffuse red pulp lymphoma Splenic diffuse red pulp small Bcell lymphoma Splenic marginal zone lymphoma Splenogonadal fusion-limb defects-micrognathia syndrome Splenomegaly-neutropeniarheumatoid arthritis syndrome



153

ORPHA Disease name number 1671 Split cord malformation type 1 294994 Split foot 2439 295126 295124 294992 2440 2437 295122 295120 2440 71271 2437 3329 958 2329 1756 488232

488232

3329 320406 93357 93357

1190 228387 85194 3180 3275 94095

329252 1855 →1855

Split foot deformitymandibulofacial dysostosis syndrome Split foot, bilateral Split foot, unilateral Split hand Split hand foot malformation Split hand with obstructive uropathy, spina bifida and diaphragmatic defects Split hand, bilateral Split hand, unilateral Split hand-split foot malformation Split hand-split foot-deafness syndrome Split hand-urinary anomalies-spina bifida syndrome Split hand/foot malformation with long bone deficiency Split hand/split foot-mandibular hypoplasia syndrome Split hand/split foot-nystagmus syndrome Split notochord syndrome Split-foot malformation-mesoaxial polydactyly syndrome Split-foot malformation-mesoaxial polydactyly-nail abnormalitiessensorineural hearing loss syndrome Split-hand/foot malformation associated with aplasia of long bones SPOAN SPONASTRIME dysplasia Spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia Spondylo-humero-femoral dysplasia Spondylo-megaepiphysealmetaphyseal dysplasia Spondylo-ocular syndrome Spondylocamptodactyly syndrome Spondylocarpotarsal synostosis Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome Spondylocostal dysostosishypospadias-intellectual disability syndrome Spondyloenchondrodysplasia Spondyloenchondrodysplasia with immune dysregulation

ORPHA Disease name number 1855 Spondyloenchondromatosis 93346

93356

93360

93359 93359 93360

93360

93360

93360

171866 93347 168448 168454 99642 93351 370015 156728 93347 93356 93282 93282 93352 93357

168451

Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal dysplasia type 2 Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Spondyloepimetaphyseal dysplasia with joint laxity Spondyloepimetaphyseal dysplasia with joint laxity type 1 Spondyloepimetaphyseal dysplasia with joint laxity type 2 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Spondyloepimetaphyseal dysplasia with multiple dislocations Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, anauxetic type Spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepimetaphyseal dysplasia, Geneviève type Spondyloepimetaphyseal dysplasia, Handigodu type Spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Isidor type Spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia, Menger type Spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, Pakistani type Spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia, Shohat type Spondyloepimetaphyseal dysplasia, Sponastrime type Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

ORPHA number

Disease name

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal 93358 dysplasia-short limb-abnormal calcification syndrome Spondyloepiphyseal dysplasia 94068 congenita Spondyloepiphyseal dysplasia 93284 tarda Spondyloepiphyseal dysplasia 163665 tarda, Kohn type Spondyloepiphyseal dysplasia 1159 tarda-progressive arthropathy syndrome Spondyloepiphyseal dysplasia 263463 with congenital joint dyslocations, CHST3 type Spondyloepiphyseal dysplasia, →93284 Byers type Spondyloepiphyseal dysplasia, 163654 Cantu type Spondyloepiphyseal dysplasia, 93283 Kimberley type Spondyloepiphyseal dysplasia, 163668 MacDermot type Spondyloepiphyseal dysplasia, 263482 Maroteaux type Spondyloepiphyseal dysplasia, 163649 Nishimura type Spondyloepiphyseal dysplasia, →263463 Omani type Spondyloepiphyseal dysplasia, 163662 Reardon type Spondyloepiphyseal dysplasia, 459051 Stanescu type Spondyloepiphyseal dysplasia163654 brachydactyly-speech disorder syndrome Spondyloepiphyseal dysplasiacraniosynostosis-cleft palate163649 cataract-intellectual disability syndrome Spondyloepiphyseal dysplasia163668 myopia-sensorineural deafness syndrome Spondyloepiphyseal dysplasia1830 nephrotic syndrome Spondyloepiphyseal dysplasia→93284 punctate corneal dystrophy syndrome Spondyloepiphyseal dysplasia353298 retinal dystrophyimmunodeficiency syndrome Spondylometaphyseal dysplasia →1855 with combined immunodeficiency 168443



154

ORPHA number 1855 93316 168555 93316 93315 370019 168544 93314 93316 93317 93315

168552

85167 1856 141 54260 443180 443180 29822 247234 204 204 1665 306776 225147 84271 84271

97555

93222

Disease name

Spondylometaphyseal dysplasia with enchondromatous changes Spondylometaphyseal dysplasia with severe genu valgum Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, Czarny-Ratajczak type Spondylometaphyseal dysplasia, Golden type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasiabowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasiacone-rod dystrophy syndrome Spondyloperipheral dysplasiashort ulna syndrome Spongy degeneration of the brain Spongy myocardium Spontaneous cerebrospinal fluid leak Spontaneous intracranial hypotension Spontaneous periodic hypothermia Sporadic adult-onset ataxia of unknown etiology Sporadic CJD Sporadic Creutzfeldt-Jakob disease Sporadic fetal brain disruption sequence Sporadic hyperekplexia Sporadic IBSN Sporadic idiopathic nephrosis Sporadic idiopathic steroidresistant nephrotic syndrome Sporadic idiopathic steroidresistant nephrotic syndrome with collapsing glomerulopathy Sporadic idiopathic steroidresistant nephrotic syndrome with diffuse mesangial proliferation

ORPHA number

Disease name

Sporadic idiopathic steroid93220 resistant nephrotic syndrome with

93218

93218

93221 611 225147 225147 225147 227510 227510 276624 276621 443057 276627 826 464282 70594 94068 3181 70476 234 3198 1509 431255 86884 51083 423994 99977

424996

424996 67037 424975 424975 398058

diffuse mesangial sclerosis Sporadic idiopathic steroidresistant nephrotic syndrome with focal segmental glomerulosclerosis Sporadic idiopathic steroidresistant nephrotic syndrome with focal segmental hyalinosis Sporadic idiopathic steroidresistant nephrotic syndrome with minimal changes Sporadic inclusion body myositis Sporadic infantile bilateral striatal necrosis Sporadic infantile striatonigral degeneration Sporadic infantile striatonigral necrosis Sporadic olivopontocerebellar atrophy type 1 Sporadic OPCA type 1 Sporadic pheochromocytoma Sporadic pheochromocytoma/secreting paraganglioma Sporadic porphyria cutanea tarda Sporadic secreting paraganglioma Sporotrichosis SPPRS syndrome SPR deficiency Spranger-Wiedemann disease Sprengel deformity Spring catarrh Sprinz-Nelson syndrome SPS SPS SPSMA SPTCL SQTS Squamous cell carcinoma of colon Squamous cell carcinoma of esophagus Squamous cell carcinoma of gallbladder and extrahepatic biliary tract Squamous cell carcinoma of gallblader and EBT Squamous cell carcinoma of head and neck Squamous cell carcinoma of liver and IBT Squamous cell carcinoma of liver and intrahepatic biliary tract Squamous cell carcinoma of penis

ORPHA number 424002 418959 424019 213767 213716 494547 494550 500464 500464 457252 500478 424039 500481 423968 423968 494448 324737 83601 330001 22 466926 2806 50944 370927 2323 36236 83484 2454 1798 3235 140917 36238 36236 36235 99919 99919

Disease name

Squamous cell carcinoma of rectum Squamous cell carcinoma of stomach Squamous cell carcinoma of the anal canal Squamous cell carcinoma of the cervix uteri Squamous cell carcinoma of the corpus uteri Squamous cell carcinoma of the hypopharynx Squamous cell carcinoma of the larynx Squamous cell carcinoma of the nasal cavity and paranasal sinuses Squamous cell carcinoma of the nasal cavity and sinuses Squamous cell carcinoma of the oral tongue Squamous cell carcinoma of the oropharynx Squamous cell carcinoma of the pancreas Squamous cell carcinoma of the salivary glands Squamous cell carcinoma of the small bowel Squamous cell carcinoma of the small intestine Squamous cell carcinoma of vulva SRD5A3-CDG SREAT SSA SSADH deficiency SSM syndrome SSPE SSPS SSR4-CDG SSS SSSS St. Louis encephalitis Stalker-Chitayat syndrome Stanescu osteosclerosis Stapedo-vestibular ankylosis Stapes ankylosis with broad thumbs and toes Staphylococcal necrotizing pneumonia Staphylococcal scalded skin syndrome Staphylococcal scarlet fever Staphylococcal toxic-shock syndrome Staphylococcal TSS



155

ORPHA Disease name number 140952 STAR syndrome 827 Stargardt 1 827 85146 166427 391311 2314 438159

329284 841 3184 438117 240071 565 565 273 273 3186 168953 99087 210115 3194 →42775 753 3196 461 83601 93207 →69061 909 46059 488168 36426 828 90653 90654 166100 166100 3197 443804

Stargardt disease Stark-Kaeser syndrome Startle epilepsy STAT1 deficiency STAT3 deficiency STAT3-related early-onset multisystem autoimmune disease Static encephalopathy of childhood with neurdegeneration in adulthood Steatocystoma multiplex Steatocystoma multiplex-natal teeth syndrome Steel syndrome Steele-Richardson-Olszewski disease Steely hair disease Steely hair syndrome Steinert disease Steinert myotonic dystrophy Steinfeld syndrome Stem cell leukemia/lymphoma Stenosis or atresia of the coronary ostium Sterile multifocal osteomyelitis with periostitis and pustulosis Stern-Lubinsky-Durrie syndrome Sternal malformation-vascular dysplasia syndrome Steroid 5-alpha-reductase deficiency Steroid dehydrogenase deficiencydental anomalies syndrome Steroid sulfatase deficiency Steroid-responsive encephalopathy associated with autoimmune thyroiditis Steroid-sensitive MCNS Steroid-sensitive nephrotic syndrome without renal biopsy Sterol 27-hydroxylase deficiency Sterol C5-desaturase deficiency Sterol-C4-methyl oxidase deficiency Stevens-Johnson syndrome Stickler syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Stickler syndrome, non-ocular type Stiff baby syndrome Stiff leg syndrome

ORPHA Disease name number 3198 Stiff man syndrome 3198 2833 85414 233 3199 425120 2972 3200 3074 3201 2878 168577 98868 353253 353253 337 3204 3204 99064 95461 1277 2863 99905 99918 99918 66529 90041 90041 50942 137599 213711 76 100984 370921 370924 328 3205 3205 3205 3205 3206 3206

Stiff person syndrome and related disorders Stiff skin syndrome Still disease Stilling-Turk-Duane syndrome Stimmler syndrome STING-associated vasculopathy with onset in infancy Stoelinga-de Koomen-Davis syndrome Stoll-Alembik-Finck syndrome Stoll-Géraudel-Chauvin syndrome Stoll-Kieny-Dott syndrome Stoll-Lévy-Francfort syndrome Stomatin-deficient cryohydrocytosis Stomatocytic elliptocytosis Stomatodynia Stomatopyrosis Stone man syndrome Stormorken syndrome Stormorken-Sjaastad-Langslet syndrome Straddling and/or overriding mitral valve Straddling or overriding tricuspid valve Stratton-Garcia-Young syndrome Stratton-Parker syndrome Streptobacillary rat-bite fever Streptococcal toxic-shock syndrome Streptococcal TSS Stress cardiomyopathy Stress erythrocytosis Stress polycythemia Striate palmoplantar keratoderma Stromal keratitis Stromal sarcoma of the corpus uteri Strongyloidiasis Strümpell disease STT3A-CDG STT3B-CDG Stuart-Prower factor deficiency Sturge-Weber syndrome Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome Stüve-Wiedemann dysplasia Stüve-Wiedemann syndrome

ORPHA number 3206 166277 101029 79093 79093 163525 2806 206594

206594 98824 79093 2806 2806

356

99113 99113 3191 48377 48377 99796 313808 99796 86884 86884 251618 101030 251639 98957 98959 155878 3190 1606 96168 1398

Disease name

Stüve-Wiedemann/SchwartzJampel type 2 syndrome Suarez-Stickler syndrome Sub-cortical nodular heterotopia Subacute angiohypertrophic myelomalacia Subacute ascending necrotizing myelitis Subacute cutaneous lupus erythematosus Subacute inclusion body encephalitis Subacute inflammatory demyelinating polyneuropathy Subacute inflammatory demyelinating polyradiculoneuropathy Subacute myeloid leukemia Subacute necrotizing myelitis Subacute sclerosing leukoencephalitis Subacute sclerosing panencephalitis Subacute spongiform encephalopathy, GerstmannStraussler type Subaortic course of brachiocephalic vein Subaortic course of innominate vein Subaortic stenosis-short stature syndrome Subcorneal pustular dermatitis Subcorneal pustular dermatosis Subcortical band heterotopia Subcortical gliosis of Neumann Subcortical laminar heterotopia Subcutaneous panniculitic T-cell lymphoma Subcutaneous panniculitis-like Tcell lymphoma Subependymal giant cell astrocytoma Subependymal nodular heterotopia Subependymoma Subepithelial amyloidosis of the cornea Subepithelial mucinous corneal dystrophy Submucosal cleft palate Subpulmonary stenosis Subtelomeric 1p36 deletion Subtelomeric deletion 13q34 Subtotal absence of cerebellum



156

ORPHA Disease name number 180129 Subtotal septate uterus →2609 Succinic acidemia 22 832 832 832 702 168593 130 399329 498602 2752 498602 3412 99732

308386

308393

308400 99731 65682 254395 3210 57145 130 455 98961 247245 247245 79490 79490 247245 247245 247245

Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA acetoacetate transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency Succinyl-CoA:3-oxoacid CoA transferase deficiency Sudanophilic leukodystrophy, Paelizeus-Merzbacher type Sudden infant death-dysgenesis of the testes syndrome Sudden unexplained nocturnal death syndrome SUFE Sugarman brachydactyly Sugarman syndrome Sugarman-Hager-Kulik syndrome Sujansky-Leonard syndrome Sulfite oxidase deficiency due to molybdenum cofactor deficiency Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Sulfocysteinuria Summerskill-Walshe-Tygstrup syndrome Summertime actinic lichenoid eruption Summitt syndrome SUNCT syndrome SUNDS Superficial epidermolytic ichthyosis Superficial granular corneal dystrophy Superficial hemosiderosis of the central nervous system Superficial hemosiderosis of the CNS Superficial lymphangioma Superficial lymphatic malformation Superficial siderosis Superficial siderosis of the central nervous system Superficial siderosis of the CNS

ORPHA number 88633 155884 180182 96170 141096 295002 295142 295140 295002 295142 295140 1461 764 466695 3193 3192 391351 391351 391351 838 331226 447740

169085

391311 3193 86813 3243 247165 247165 3205 242 90038 306731 295138 295136 1570 60015 1314 79098 79098

Disease name

Superior limbic keratoconjunctivitis Superior palpebral coloboma Supernumerary breasts Supernumerary der(22) syndrome Supernumerary nostril Supernumerary phalanges Supernumerary phalanges, bilateral Supernumerary phalanges, unilateral Supernumerary phalanx Supernumerary phalanx, bilateral Supernumerary phalanx, unilateral Superoinferior ventricles Suppurative myositis Supratip dysplasia Supravalvular aortic stenosis Supravalvular pulmonary stenosis SURF1-related Charcot-MarieTooth disease type 4 SURF1-related CMT4 SURF1-related severe demyelinating Charcot-MarieTooth disease Susac syndrome Susceptibility to infection due to TYK2 deficiency Susceptibility to localized juvenile periodontitis Susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to viral and mycobacterial infections SVAS Sveinsson chorioretinal atrophy Sweet syndrome Swift disease Swift-Feer disease SWS Swyer syndrome Sxt-HUS Sydenham chorea Symbrachydactyly of hand and foot, bilateral Symbrachydactyly of hand and foot, unilateral Symbrachydactyly of hands and feet Symmetric parietal foramina Symmetrical thalamic calcifications Sympathetic ophthalmia Sympathetic uveitis

ORPHA number 3246 3250 3237 465508 276630 449291 465508 177926 177929 465508

206546

357332

98915 93404 93402 295193 295189 295191 295187 295187 295189 295191 295193 93403 93404 93405 93406 295012 3258 2498 157801 157801 295012 357332

3253 3259

Disease name

Symphalangism with multiple anomalies of hands and feet Symphalangism, Cushing type Symphalangism-brachydactyly syndrome Symptomatic form of classic hemochromatosis Symptomatic form of Coffin-Lowry syndrome in female carriers Symptomatic form of fragile X syndrome in female carrier Symptomatic form of hemochromatosis type 1 Symptomatic form of hemophilia A in female carriers Symptomatic form of hemophilia B in female carriers Symptomatic form of HFE-related hereditary hemochromatosis Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome Synaptic congenital myasthenic syndromes Syndactyly of fingers 4 and 5 Syndactyly type 1 Syndactyly type 1, Castilla type Syndactyly type 1, Lueken type Syndactyly type 1, Montagu type Syndactyly type 1, Weidenreich type Syndactyly type 1a Syndactyly type 1b Syndactyly type 1c Syndactyly type 1d Syndactyly type 2 Syndactyly type 3 Syndactyly type 4 Syndactyly type 5 Syndactyly type 6 Syndactyly type 7 Syndactyly type 8 Syndactyly type 9 Syndactyly, Malik-Percin type Syndactyly, mitten type Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome Syndactyly-ectodermal dysplasiacleft/lip palate Syndactyly-polydactyly-ear lobe syndrome



157

ORPHA number 85203 140952 →1159 2143 1447 52 261619 261629 261600 84064 84064 77298 85275 178364 139471 2556 3434 2470 77299

178364

228426

98606 281090 457223

457223 457223 281090 85274 85279 85295 85286 319332 319332

Disease name

Syndactyly-preaxial polydactylysternal deformity syndrome Syndactyly-telecanthus-anogenital and renal malformations syndrome Syndesmodysplasic dwarfism Syndrome of ocular and facial anomalies, telecanthus and deafness Syndrome r(4) Syndromic bile duct paucity Syndromic bile duct paucity due to a JAG1 point mutation Syndromic bile duct paucity due to a NOTCH2 point mutation Syndromic bile duct paucity due to monosomy 20p12 Syndromic diarrhea Syndromic diarrhea/Trichohepato-enteric syndrome Syndromic microphthalmia type 3 Syndromic microphthalmia type 4 Syndromic microphthalmia type 5 Syndromic microphthalmia type 6 Syndromic microphthalmia type 7 Syndromic microphthalmia type 8 Syndromic microphthalmia type 9 Syndromic microphthalmia type 10 Syndromic microphthalmia/anophthalmia due to OTX2 mutation Syndromic multisystem autoimmune disease due to Itch deficiency Syndromic orbital border hypoplasia Syndromic RXLI Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Syndromic sensorineural deafness due to COXPD Syndromic sensorineural hearing loss due to COXPD Syndromic X-linked ichthyosis Syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability due to JARID1C mutation Syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 11 SYNE1-related AMC SYNE1-related arthrogryposis multiplex congenita

ORPHA Disease name number 3263 Syngnathia-cleft palate syndrome 3262 35098 3273 3273 793 93403 295195 295197 295199 295197 295199 295195 3275 93926 840 840 314701 188 →528 364033

364033

364033 401996 98849

98849 90069 439762 439762 439762 85414 158 90291 90291 220407 85414 85414 134 99861

Syngnathia-multiple anomalies syndrome Synostotic plagiocephaly Synovial sarcoma Synovialosarcoma Synovitis-acne-pustulosishyperostosis-osteitis syndrome Synpolydactyly Synpolydactyly type 1 Synpolydactyly type 2 Synpolydactyly type 3 Synpolydactyly, Debeer type Synpolydactyly, Malik type Synpolydactyly, Vordingborg type Synspondylism Syntelencephaly Syringadenoma papilliferum Syringocystadenoma papilliferum Systemic AL amyloidosis Systemic capillary leak syndrome Systemic cystic angiomatosis-Seip syndrome Systemic EBV+ T-cell LPD of childhood Systemic EBV-positive T-cell lymphoproliferative disease of childhood Systemic Epstein-Barr viruspositive T-cell lymphoproliferative disease of childhood Systemic karyomegaly Systemic mastocytosis with an associated clonal hematologic nonmast cell lineage disease Systemic mastocytosis with associated hematologic neoplasm Systemic monochloroacetate poisoning Systemic PAN Systemic periarteritis nodosa Systemic polyarteritis nodosa Systemic polyarthritis Systemic primary carnitine deficiency Systemic scleroderma Systemic sclerosis Systemic sclerosis sine scleroderma Systemic-onset JIA Systemic-onset juvenile idiopathic arthritis T2 deficiency T-ALL

ORPHA number 169160 169157 276 169154 35078 169160

169157

276

169154

35078

276 86871 324294 324294 86872 86872 86886 86871 300857 86872 86871 1350 3384 447896 457077 567 2905 3287 487796 66529 66529 66529 66529 101028

Disease name

T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta T-B+ SCID due to CD45 deficiency T-B+ SCID due to gamma chain deficiency T-B+ SCID due to IL-7Ralpha deficiency T-B+ SCID due to JAK3 deficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency due to IL7Ralpha deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency, X-linked T-cell chronic lymphocytic leukemia T-cell immunodeficiency due to RHOH deficiency T-cell immunodeficiency with epidermodysplasia verruciformis T-cell large granular lymphocyte leukemia T-cell LGL leukemia T-cell lymphoma, AILD type T-cell prolymphocytic leukemia T-cell/histiocyte rich large B cell lymphoma T-LGL T-PLL Tabatznik syndrome TAC TACH syndrome TAFRO syndrome Takao syndrome Takatsuki syndrome Takayasu arteritis Takenouchi-Kosaki syndrome Tako-Tsubo cardiomyopathy Tako-Tsubo syndrome Takotsubo cardiomyopathy Takotsubo syndrome TALDO deficiency



158

ORPHA number

2886

217335

404443 500095 329191 329191 50809 31150 180 98839 3320 65250 2886 99170 1412 371 404443 163654 2731 3289 99045 →33364 845 309239 309192 309178 309185 669 90650 2636 98960 488632 297 499004 857 2967 103918 397959 397959

Disease name

Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome Tall stature-intellectual disabilityfacial dysmorphism syndrome Tall stature-intellectual disabilityrenal anomalies syndrome Tall stature-scoliosis-macrodactyly of the great toes syndrome Tall stature-scoliosis-macrodactyly of the halluces syndrome Talo-patello-scaphoid osteolysis Tangier disease Tapetochoroidal dystrophy Tappeiner-Pfleger disease TAR syndrome Tarlov cyst TARP syndrome Tarsal kink syndrome Tarsal-carpal coalition syndrome Tarui disease Tatton-Brown-Rahman overgrowth syndrome Tattoo dysplasia Taurodontia-absent teeth-sparse hair syndrome Taurodontism Taussig-Bing syndrome Tay syndrome Tay-Sachs disease Tay-Sachs disease, B1 variant Tay-Sachs disease, B variant, adult form Tay-Sachs disease, B variant, infantile form Tay-Sachs disease, B variant, juvenile form Taybi syndrome Taybi syndrome Taybi-Linder syndrome TBCD TBCK-related intellectual disability syndrome TBE TBM TBS TCI deficiency TCP TCR-alpha-beta+ T-cell deficiency TCR-alpha-beta-positive T-cell deficiency

ORPHA number 2655 TD 1860 TD1 93274 3352 1519 1519 2432 1094 1974 3291 3292 90389

284227

3293 2885 488642 1596 36367 280 96145 1627 96126 1636 1642 1580 96148 2308 96149 96150 531 1597 96129 96152 1590 96069 96070 96094 96071 96072 96096 96097 1745 96098 96074 96100

Disease name

TD2 TDO syndrome Teebi hypertelorism syndrome Teebi syndrome Teebi-Al Saleh-Hassoon syndrome Teebi-Kaurah syndrome Teebi-Naguib-Alawadi syndrome Teebi-Shaltout syndrome Tel Hashomer camptodactyly syndrome Telangiectasia macularis eruptiva perstans Telangiectasia-erythrocytosismonoclonal gammopathyperinephric-fluid collectionsintrapulmonary shunting syndrome Telecanthus-hypertelorismstrabismus-pes cavus syndrome Telfer-Sugar-Jaeger syndrome TELO2-related intellectual disability-neurodevelopmental disorder Telomeric 15q deletion syndrome Telomeric deletion 1q Telomeric deletion 4p Telomeric deletion 4q Telomeric deletion 5q Telomeric deletion 7p Telomeric deletion 7q36 Telomeric deletion 9p Telomeric deletion 10p Telomeric deletion 10q Telomeric deletion 11q Telomeric deletion 12q Telomeric deletion 14q Telomeric deletion 17p Telomeric deletion 17q Telomeric deletion 19p Telomeric deletion 20q Telomeric deletion13q Telomeric duplication 1p36 Telomeric duplication 2p Telomeric duplication 2q Telomeric duplication 3p Telomeric duplication 4p Telomeric duplication 4q Telomeric duplication 5q Telomeric duplication 6p Telomeric duplication 6q Telomeric duplication 7p Telomeric duplication 8q

ORPHA Disease name number 96101 Telomeric duplication 9q 96102 Telomeric duplication 10q 96103 Telomeric duplication 11q 96105 1705 1707 96078 96106 3379 1716 1717 96107 96109 1762 1620 75565 352737 284227 420561 397 363417 1777 1777 66627 137834 252018 141107 363483 169150 88630 93937 141242 141258 141261 141265 325124 363494 363494 983 842 842 363489 363483 3000 3299

Telomeric duplication 13q Telomeric duplication 14q Telomeric duplication 15q Telomeric duplication 16p Telomeric duplication 16q Telomeric duplication 17q Telomeric duplication 18q Telomeric duplication 19q Telomeric duplication 20q Telomeric duplication 22q Telomeric duplication Xq Telomeric monosomy 3p TEMF Temperature-sensitive oculocutaneous albinism type 1 TEMPI syndrome Temple-Baraitser syndrome Temporal arteritis Temtamy preaxial brachydactyly syndrome Temtamy syndrome Temtamy-Shalash syndrome Tenosynovial giant cell tumor Ter Haar syndrome Teratoma of the central nervous system Teratoma of the nasopharynx Teratoma of the testis Terminal complement pathway deficiency Terminal osseous dysplasiapigmentary defects syndrome Terminal transverse defects of arm Tessier number 1 cleft Tessier number 4 facial cleft Tessier number 5 facial cleft Tessier number 6 facial cleft Testicular agenesis Testicular non seminomatous germ cell tumor Testicular non-dysgerminomatous germ cell tumor Testicular regression syndrome Testicular seminoma Testicular seminomatous germ cell tumor Testicular sex cord-stromal tumor Testicular teratoma Testotoxicosis Tetanus



159

ORPHA Disease name number 9 Tetra X 294971 Tetra-amelia 3301 199310 293284

293284 3303 2564 3305 3309 3310 289522 884 314588 314588 485405 485405 3307 96055 9 140917 746 746 225123 476113 216729 99042 66627 3329 1780 3312 2655 1860 93274 93274 2655 1860 93274 →175 500095 436169 436169 99917

99917

Tetraamelia-multiple malformations syndrome Tetragametic chimerism Tetrahydrobiopterin-responsive HPA/PKU Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylket onuria Tetralogy of Fallot Tetramelic monodactyly Tetraploidy Tetrasomy 5p Tetrasomy 9p Tetrasomy 11q24.1 Tetrasomy 12p Tetrasomy 15(q25-qter) Tetrasomy 15q26 Tetrasomy 16p12.1-p12.3 Tetrasomy 16p12.1p12.3 Tetrasomy 18p Tetrasomy 21 Tetrasomy X Teunissen-Cremers syndrome TFP deficiency TFPD TFR2-related hemochromatosis TFRC-related combined immunodeficiency TGA with cardiac malformation TGA with coarctation TGCT TH-SHFM Thakker-Donnai syndrome Thalidomide embryopathy Thanatophoric dwarfism Thanatophoric dwarfism type 1 Thanatophoric dwarfism type 2 Thanatophoric dwarfismcloverleaf skull syndrome Thanatophoric dysplasia Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thanatophoric dysplasia, Glasgow variant Thauvin-Robinet-Faivre syndrome THBD-related bleeding disorder THBD-related coagulopathy Theca (steroid-producing) cell cancer, not further specified Theca steroid-producing cell malignant tumor of ovary, not further specified

ORPHA number 88633 88633 268184

268184

199348 268184 49827

49827

268184 2405 98960 3314 3235 1506 166424 →300 141030 141030 141030 363444 3316 2547 2031 614 2866 1861 97330 97330 1759 1335 3317 1803 268384 268752 1803

Disease name

Theodore's superior limbic keratoconjunctivitis Theodore's syndrome Thiamine-responsive BCKD deficiency Thiamine-responsive branchedchain 2-ketoacid dehydrogenase deficiency Thiamine-responsive encephalopathy Thiamine-responsive maple syrup urine disease Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Thiamine-responsive MSUD Thickened earlobes-conductive deafness syndrome Thiel-Behnke corneal dystrophy Thiemann disease, familial form Thies-Reis syndrome Thin ribs-tubular bonesdysmorphism syndrome Thinking seizures Thiolase deficiency Third branchial cleft anomaly Third branchial cleft cyst Third branchial cleft fistula THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Thomas syndrome Thomas-Jewett-Raines syndrome Thompson-Baraitser syndrome Thomsen and Becker disease Thong-Douglas-Ferrante syndrome Thoracic dysplasia-hydrocephalus syndrome Thoracic outlet compression syndrome Thoracic outlet syndrome Thoraco-abdominal enteric duplication Thoraco-abdominal syndrome Thoracolaryngopelvic dysplasia Thoracolimb dysplasia, Rivera type Thoracolumbosacral spina bifida aperta Thoracolumbosacral spina bifida cystica Thoracomelic dysplasia

ORPHA number →2199 300857 36258 329319 3204

67044

3320

457077

3323 3002 436169 436169 54057 2251 294988 295112 295110 294988 295112 295110 1078 2919 83471 99868 99869 97289 3326 99867 263310 263324 263317 169105 3327 95716 95712 95719 95720 97285

Disease name

Thost-Unna palmoplantar keratoderma THRLBCL Thromboangiitis obliterans Thrombocythemia with distal limb defects Thrombocytopathy-aspleniamiosis syndrome Thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia-absent radius syndrome Thrombocytopenia-anasarcafever-renal insufficiencyorganomegaly syndrome Thrombocytopenia-Robin sequence syndrome Thrombocytopenic purpura, autoimmune Thrombomodulin-related bleeding disorder Thrombomodulin-related coagulopathy Thrombotic thrombocytopenic purpura Thumb deformity-alopeciapigmentation anomaly syndrome Thumb hypodactyly Thumb hypodactyly, bilateral Thumb hypodactyly, unilateral Thumb oligodactyly Thumb oligodactyly, bilateral Thumb oligodactyly, unilateral Thumb stiffness-brachydactylyintellectual disability syndrome Thurston syndrome Thymic aplasia Thymic carcinoma Thymic neuroendocrine carcinoma Thymic neuroendocrine tumor Thymic-renal-anal-lung dysplasia Thymoma Thymoma type A Thymoma type AB Thymoma type B Thymoma-immunodeficiency syndrome Thyrocerebrorenal syndrome Thyroid dyshormonogenesis Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Thyroid lymphoma



160

ORPHA number 91347 2091 79102 79102 91347 2768 3329 93322 3329 295079 295077 3329 988 93322 295079 295077 609 295028 295028 294981 295099 295097 297 42665 1662 65283 91500 352540 480483 488618 420561 →1394 420611 609 314667 466703 1194 99886 32960 64686 1920 640

Disease name

Thyroid stimulating hormonesecreting pituitary adenoma Thyroid-renal-digital anomalies Thyrotoxic hypokalemic periodic paralysis Thyrotoxic periodic paralysis Thyrotroph adenoma Tibia vara Blount Tibial aplasia-ectrodactyly syndrome Tibial hemimelia Tibial hemimelia with split hand/foot malformation Tibial hemimelia, bilateral Tibial hemimelia, unilateral Tibial hemimelia-ectrodactyly syndrome Tibial hemimelia-polysyndactylytriphalangeal thumb syndrome Tibial longitudinal meromelia Tibial longitudinal meromelia, bilateral Tibial longitudinal meromelia, unilateral Tibial muscular dystrophy Tibio-fibular fusion Tibio-fibular synostosis Tibiofibular terminal transverse meromelia Tibiofibular terminal transverse meromelia, bilateral Tibiofibular terminal transverse meromelia, unilateral Tick-borne encephalitis Tietz syndrome Tight skin contracture syndrome Timothy syndrome TINU syndrome TIO TJP2 deficit TKT deficiency TMBTS TMCO1 defect syndrome TMD TMD TMEM165-CDG TMEM199-CDG TMEM70-related mitochondrial encephalo-cardio-myopathy TNDM TNF receptor 1-associated periodic syndrome Tolosa-Hunt syndrome Toluene embryopathy Tomaculous neuropathy

ORPHA Disease name number →314632 Tomé-Brunet-Fardeau syndrome 454718 1547 2228 3460 1827 3338 79347 3339 51084 3341 75326 97330 2701 294971 49382 98994 180126 268377 268748 2796 857 857 95455 95455 279894 227972 293173 230800 230800 3343 858 858 93164 444463

444463

2950 412022 3346 3347 3348 3348 3052 101028

Tonic pupil-tendon areflexia syndrome Tonoki-Ohura-Niikawa syndrome Tooth and nail syndrome Torg-Winchester syndrome Toriello syndrome Toriello-Carey syndrome Toriello-Higgins-Miller syndrome Toriello-Lacassie-Droste syndrome Torsade-de-pointes syndrome with short coupling interval Torticollis-keloids-cryptorchidismrenal dysplasia syndrome Tortuosity of retinal arteries TOS Tosti syndrome Total amelia Total color blindness Total early-onset cataract Total septate uterus Total spina bifida aperta Total spina bifida cystica Touraine-Solente-Gole syndrome Townes syndrome Townes-Brocks syndrome Toxic epidermal necrolysis Toxic epidermolysis Toxic maculopathy due to antimalarial drugs Toxic oil syndrome Toxic pustuloderma Toxin-mediated infectious botulism Toxin-mediated infective botulism Toxocariasis Toxoplasma embryofetopathy Toxoplasma embryopathy TPHA TPPII deficiency TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease TPT-PS syndrome Traboulsi syndrome Tracheal agenesis Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheopathia osteoplastica Tranebjaerg-Svejgaard syndrome Transaldolase deficiency

ORPHA Disease name number 859 Transcobalamin deficiency 2967 Transcobalamin I deficiency 859 Transcobalamin II deficiency 2967 Transcobalamin-1 deficiency 199247 Transcortin deficiency 495 495 87503 420611 98871 79411 98871 2312 289877

169139

300293

300293

66529 420611 420611 391504 391504

280615

99886 329942 329942 329942 329942 329942 391504

Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transgrediens palmoplantar keratoderma of Siemens Transient abnormal myelopoiesis Transient acquired pure red cell aplasia Transient bullous dermolysis of the newborn Transient erythroblastopenia of childhood Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient hypogammaglobulinemia of infancy Transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis Transient left ventricular apical ballooning syndrome Transient myeloproliferative disease Transient myeloproliferative syndrome Transient neonatal acquired myasthenia Transient neonatal autoimmune myasthenia gravis Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Transient neonatal diabetes mellitus Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal multiple acylCoA dehydrogenase deficiency Transient neonatal myasthenia gravis



161

ORPHA number

Disease name

Transient pseudohypoaldosteronism Transient reactive 498359 papulotranslucent acrokeratoderma Transient tyrosinemia of the 3402 neonate Transient tyrosinemia of the 3402 newborn Transitional cell carcinoma of the 213746 corpus uteri 280224 Transitional PMD 488618 Transketolase deficiency 319308 Translocation renal cell carcinoma 85451 Transthyretin amyloid cardiopathy 85447 Transthyretin amyloid neuropathy Transthyretin amyloid 85447 polyneuropathy Transthyretin-related familial 85451 amyloid cardiomyopathy Transverse limb deficiency→221061 hemangioma syndrome 180160 Transverse vaginal septum 32960 TRAPS syndrome 399175 Traumatic avascular necrosis 399175 Traumatic AVN 861 Treacher-Collins syndrome →1215 Treft-Sanborn-Carey syndrome 103909 Trehalase deficiency Tremor-ataxia-central 447896 hypomyelination syndrome Tremor-nystagmus-duodenal ulcer 3350 syndrome 64694 Trench fever 1822 Trevor disease 99832 TRH resistance syndrome 2970 Triad syndrome 444463 TRIANGLE disease Triangular tibia-fibular aplasia 85170 syndrome 863 Trichinellosis 863 Trichinosis 3352 Tricho-dento-osseous syndrome 84064 Tricho-hepato-enteric syndrome Tricho-oculo-dermo-vertebral 3354 syndrome Tricho-retino-dento-digital 1264 syndrome 3351 Trichodental syndrome Trichodermal syndrome3360 intellectual disability syndrome Trichodermodysplasia-dental 3353 alterations syndrome 228379 Trichodysplasia spinulosa 93164

ORPHA number 1809

79129 3361 864 84064 499182 3363 3355 3355 565 77258 502 →33364 33364 →33364 →33364 →33364 →33364 →33364 →33364 →33364

→33364

→33364 →33364 1209 95457 95458 221091 98908 1308 3368 3365 3369 401764 3374

Disease name

Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome Trichodysplasia-amelogenesis imperfecta syndrome Trichodysplasia-xeroderma syndrome Trichofolliculoma Trichohepatoenteric syndrome Trichomatrical carcinoma Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichoodontoonychial dysplasia Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region Trichopoliodystrophy Trichorhinophalangeal syndrome type 1 and 3 Trichorhinophalangeal syndrome type 2 Trichorrhexis nodosa syndrome Trichothiodystrophy Trichothiodystrophy type B Trichothiodystrophy type C Trichothiodystrophy type D Trichothiodystrophy type E Trichothiodystrophy type F Trichothiodystrophy type G Trichothiodystrophy with congenital ichthyosis Trichothiodystrophyneurocutaneous syndrome syndrome Trichothiodystrophyosteosclerosis syndrome Trichothiodystrophy-sun sensitivity syndrome Tricuspid atresia Tricuspid valve agenesis Tricuspid valve prolapse Trigeminal neuralgia Triglyceride deposit cardiomyovasculopathy Trigonocephaly C syndrome Trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-broad thumbs syndrome Trigonocephaly-short staturedevelopmental delay syndrome Trilineage bone marrow failuredevelopmental delay syndrome Triopia

ORPHA number 868 485405 444463 2950 2947 3133 869 415 3375 3375 3376 3377 1692 96069 261344 250994 1723 96070 313947 294026 96094 100071 96071 96095 251038 96059 1738 96072 96096 96060 1742 329802 228415 96097 1745 96098 1747 314034 96074 96121 96061 264450 251076 1752 228399 96100 99776 236 96101

Disease name

Triose phosphate-isomerase deficiency Trip(16)(p12.1p12.3) Tripeptidyl-peptidase II deficiency Triphalangeal thumbpolysyndactyly syndrome Triphalangeal thumbsbrachyectrodactyly syndrome Triphalangeal thumbs-dislocation of patella syndrome Triple A syndrome Triple H syndrome Triple X syndrome Triplo-X syndrome Triploidy Trismus-pseudocamptodactyly syndrome Trisomy 1 mosaicism Trisomy 1pter Trisomy 1q Trisomy 1q21.1 Trisomy 2 mosaicism Trisomy 2pter Trisomy 2q23.1 Trisomy 2q31.1 Trisomy 2qter Trisomy 3 mosaicism Trisomy 3pter Trisomy 3q26 Trisomy 3q29 Trisomy 4 mosaicism Trisomy 4p Trisomy 4pter Trisomy 4qter Trisomy 5 mosaicism Trisomy 5p Trisomy 5p13 Trisomy 5q35 Trisomy 5qter Trisomy 6pter Trisomy 6qter Trisomy 7 mosaicism Trisomy 7p22.1 Trisomy 7pter Trisomy 7q11.23 Trisomy 8 mosaicism Trisomy 8p Trisomy 8p23.1 Trisomy 8q Trisomy 8q12 Trisomy 8qter Trisomy 9 mosaicism Trisomy 9p Trisomy 9qter



162

ORPHA Disease name number 96063 Trisomy 10 mosaicism 171929 Trisomy 10p 276422 Trisomy 10q22.3q23.3 96102 Trisomy 10qter 300305 Trisomy 11p15.4 96103 Trisomy 11qter 1698 1699 3378 96105 1703 261229 488280 1705 1706 238446 238446 1707 1708 261204 261243 96078 96106 1711 261290 1713 477817 477817 217385 139474 261272 217340 3379 3380 1715 1716 1717 1724 261318 96107 870 96068 1727 96109 1738 1742 236 1715 3375 217377

Trisomy 12 mosaicism Trisomy 12p Trisomy 13 Trisomy 13qter Trisomy 14 mosaicism Trisomy 14q11.2 Trisomy 14q32 Trisomy 14qter Trisomy 15 mosaicism Trisomy 15q11-q13 Trisomy 15q11q13 Trisomy 15qter Trisomy 16 mosaicism Trisomy 16p11.2p12.2 Trisomy 16p13.11 Trisomy 16pter Trisomy 16qter Trisomy 17 mosaicism Trisomy 17p Trisomy 17p11.2 Trisomy 17p11.2-p12 Trisomy 17p11.2p12 Trisomy 17p13.3 Trisomy 17q11.2 Trisomy 17q12 Trisomy 17q21.31 Trisomy 17qter Trisomy 18 Trisomy 18p Trisomy 18qter Trisomy 19qter Trisomy 20 mosaicism Trisomy 20p Trisomy 20qter Trisomy 21 Trisomy 22 mosaicism Trisomy 22q11.2 Trisomy 22qter Trisomy of the short arm of chromosome 4 Trisomy of the short arm of chromosome 5 Trisomy of the short arm of chromosome 9 Trisomy of the short arm of chromosome 18 Trisomy X Trisomy Xp11.22-p11.23

ORPHA Disease name number 261483 Trisomy Xq27.3-q28 261483 Trisomy Xq27.3q28 1762 Trisomy Xq28 88629 88629 49827 1349

103918 75565 99654 103918 764 289326 101000 983 313906 2138 2512 180074 3357 3384 228379 352737 3173 66627 91347 91347 289326 3268 3387 83317 83317 54057 85447 85451 85451 180242 499004 3389 499004 805 805 88924 2593 100048 73224

Tritan colour blindness Tritanopia TRMA tRNA-LYS-related cardiomyopathy-hearing loss syndrome Tropical calcific chronic pancreatitis Tropical endomyocardial fibrosis Tropical pancreatic diabetes Tropical pancreatitis Tropical pyomyositis Tropical spastic paraparesis Troyer syndrome TRS True congenital pancreatic cyst True hermaphroditism True microcephaly True unicornuate uterus Trueb-Burg-Bottani syndrome Truncus arteriosus TS TS OCA type 1 Tsao-Ellingson syndrome TSGCT TSH-oma TSH-secreting pituitary adenoma TSP Tsukahara syndrome Tsukahara-Kajii syndrome Tsutsugamushi disease Tsutsugamushi fever TTP TTR amyloid neuropathy TTR-related amyloid cardiomyopathy TTR-related cardiac amyloidosis Tubal cancer Tubercular meningitis Tuberculosis Tuberculous meningitis Tuberous sclerosis Tuberous sclerosis complex Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Tubular aggregate myopathy Tubular duplication of the esophagus Tubular renal diseasecardiomyopathy syndrome

ORPHA Disease name number 467166 Tubulinopathy-associated dysgyria 319325 Tubulocystic renal cell carcinoma 91500 2997 →2036 1063 3392 640 32960 289539 352540 879 3225 99053 211 99818 881 99413 2614 63440 79153 95431 1461 2889 2198 477781 3255 →79259 →79259 93554 99745 99745 99745 90038 90038 171436 158766 1895 79431 101150 101150

69723

Tubulointerstitial nephritis and uveitis syndrome Tucker syndrome Tuffli-Laxova syndrome Tufted angioma Tularemia Tulip-bulb digger's palsy Tumor necrosis factor receptor 1 associated periodic syndrome Tumor susceptibility linked to germline BAP1 mutations Tumor-induced osteomalacia Tungiasis Tungland-Bellman syndrome Tunnel subaortic stenosis Turban tumor syndrome Turcot syndrome with polyposis Turner syndrome Turner syndrome due to structural X chromosome anomalies Turner-Kieser syndrome Turricephaly Twenty-nail dystrophy Twin to twin transfusion syndrome Twisted atrioventricular connections Twisted hair Tylosis-oesophageal carcinoma syndrome Type 1 condylar hyperplasia Type 1 syndactyly-microcephalyintellectual disability syndrome Type 1C glycogenosis Type 1D glycogenosis Type II mixed cryoglobulinemia Typhoid Typhoid fever Typhoidal salmonellosis Typical hemolytic-uremic syndrome Typical HUS Typical nemaline myopathy Typical urticaria pigmentosa Typus Edinburgensis Tyrosinase-negative oculocutaneous albinism Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia Tyrosinemia due to 4hydroxyphenylpyruvate dioxygenase deficiency



163

ORPHA number

Disease name

Tyrosinemia due to 4-

ORPHA Disease name number 88950 UMOD-related ADTKD

69723 hydroxyphenylpyruvic acid oxidase 69723 28378 28378 882 28378 69723 882 28378 69723 75840 90002 609 79238 178315 205 79234 79235 3403 2032 3404 308 3406 320 75840 2497 2249 1837 93320 93320 295073 295075 1122 1122 93320 295073 295075 3138 52056 3405 209886 209886

deficiency Tyrosinemia due to HPD deficiency Tyrosinemia due to TAT deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III UCMD UCTD Udd myopathy UDP-galactose-4-epimerase deficiency UES UGT deficiency UGT deficiency type 1 UGT deficiency type 2 Uhl anomaly UIP Ulbright-Hodes syndrome ULD Ulerythema ophryogenesis Ulick syndrome Ullrich disease Ulna hypoplasia Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar clubhand Ulnar hemimelia Ulnar hemimelia, bilateral Ulnar hemimelia, unilateral Ulnar hypoplasia-lobster-claw deformity of feet syndrome Ulnar hypoplasia-split foot syndrome Ulnar longitudinal meromelia Ulnar longitudinal meromelia, bilateral Ulnar longitudinal meromelia, unilateral Ulnar-mammary syndrome Ulnar/fibula ray defectbrachydactyly syndrome Umbilical cord ulcerationintestinal atresia syndrome UMOD-associated familial juvenile hyperuricemic nephropathy UMOD-associated FJHN

88950 35120 3138 104078

98825

98827

98825 251328 1410

1264

103920 442835 442835 418951 424970 424970

424080

423786 213721 90002 178315 418951 423786 86830 2023 178315 251332 83468

UMOD-related autosomal dominant tubulointerstitial kidney disease UMPH1 deficiency UMS Unclassified intestinal pseudoobstruction Unclassified mixed myelodysplastic/myeloproliferatic syndrome Unclassified myelodysplastic syndrome Unclassified myelodysplastic/myeloproliferativ e disease Unclassified vasculitis Uncombable hair syndrome Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome Undetermined colitis Undetermined early-onset epileptic encephalopathy Undetermined EOEE Undifferentiated carcinoma of esophagus Undifferentiated carcinoma of liver and IBT Undifferentiated carcinoma of liver and intrahepatic biliary tract Undifferentiated carcinoma of pancreas with osteoclast-like giant cells Undifferentiated carcinoma of stomach Undifferentiated carcinoma of the corpus uteri Undifferentiated connective tissue syndrome Undifferentiated embryonal sarcoma of the liver Undifferentiated esophageal carcinoma Undifferentiated gastric carcinoma Undifferentiated myeloproliferative disease Undifferentiated pleomorphic sarcoma Undifferentiated sarcoma of the liver Unexplained long-lasting fever/inflammatory syndrome Unicameral bone cyst

ORPHA number 180079 180074 93176 268947 101071 97363 99802 97363 97363 268943 295148 295012 1464 99069 79146 620 99104 91140 91140 99139 308 251009 251004 96179 96180 96190 96181 96191 96182 96192 96183 231147 96193 97678 99324 96184 96334 98754 98795 96185 96186 96194 96187 96195 96188 261519

Disease name

Unicornuate uterus with rudimentary horn Unicornuate uterus without rudimentary horn Unilateral congenital megacalycosis Unilateral focal polymicrogyria Unilateral hemispheric polymicrogyria Unilateral MCDK Unilateral megalencephaly Unilateral multicystic dysplastic kidney Unilateral multicystic renal dysplasia Unilateral polymicrogyria Unilateral PPD2 Unilateral syndactyly of digits 2-5 Univentricular heart Univentricular heart with single atrio-ventricular valve Universal melanosis Universal mesentery Unroofed coronary sinus Unspecified JIA Unspecified juvenile idiopathic arthritis Unstable hemoglobin disease Unverricht-Lundborg disease UPD(1)mat UPD(1)pat UPD(2)mat UPD(4)mat UPD(5)pat UPD(6)mat UPD(6)pat UPD(7)mat UPD(7)pat UPD(9)mat UPD(11)mat UPD(11)pat UPD(13)mat UPD(13)pat UPD(14)mat UPD(14)pat UPD(15)mat UPD(15)pat UPD(16)mat UPD(20)mat UPD(20)pat UPD(21)mat UPD(21)pat UPD(22)mat UPD(X)mat



164

ORPHA Disease name number 261524 UPD(X)pat 3408 Upington disease 2489 295049 2497 268740 268770 2023 93583 488 431347 431344 530 221145 3409 1839 94059 105 35120 79238 30 210128 2704 98606 79457 886 231169 231178 231183 886 231169 231178 231183 481665 2032 213610 180145 180139 439167 180118 180118 180129 178338 1473 39044 3437 99771

Upper limb defect-eye and ear abnormalities syndrome Upper limb hypertrophy Upper limb mesomelic dysplasia Upper thoracic spina bifida aperta Upper thoracic spina bifida cystica UPS Upshaw-Schulman syndrome Urachal cyst Urachal diverticulum Urachal sinus Urbach-Wiethe disease Urban-Rifkin-Davis syndrome Urban-Rogers-Meyer syndrome Urban-Schosser-Spohn syndrome Uremic pruritus Urethral atresia Uridine 5'-monophosphate hydrolase deficiency Uridine diphosphate galactose-4epimerase deficiency Uridine monophosphate synthetase deficiency Urocanic aciduria Urofacial syndrome Urrets-Zavalia syndrome Urticaria pigmentosa USH USH1 USH2 USH3 Usher syndrome Usher syndrome type 1 Usher syndrome type 2 Usher syndrome type 3 USP18 deficiency Usual interstitial pneumonia Uterine carcinosarcoma Uterine cervical aplasia and agenesis Uterine hypoplasia Uteroplacental vascular insufficiency Uterus arcuatus Uterus cordiformis Uterus subseptus UV-sensitive syndrome Uveal coloboma-cleft lip and palate-intellectual disability Uveal melanoma Uveomenigitic syndrome Uvular cleft

ORPHA Disease name number 370109 v-AT 887 VACTERL association 3412

VACTERL with hydrocephalus 887 VACTERL/VATER association 25980 Vacuolar myopathy Vacuolating megalencephalic 2478 leukoencephalopathy with subcortical cysts 65681 Vaginal atresia 180247 Vaginal carcinoma 206489 Vaginal germ cell cancer 206489 Vaginal germ cell malignant tumor 180247 Vaginal malignant epithelial tumor 158048 VAHS 88639 Valine metabolic defect 228123 Valley fever 99054 Valvular pulmonary stenosis Van Benthem-Driessen-Hanveld 1548 syndrome 2806 Van Bogaert disease 2806 Van Bogaert encephalitis 3416 Van Buchem disease Van den Berghe-Dequecker 1122 syndrome 3417 Van den Bosch syndrome 2460 Van den Ende-Gupta syndrome 216796 Van der Hoeve syndrome 2478 Van der Knaap syndrome 888 Van der Woude syndrome 314679 Van Maldergem syndrome Van Regemorter-Pierquin-Vamos 3419 syndrome 73 Vanishing bone disease 983 Vanishing testes syndrome 983 Vanishing testis syndrome 729 Vaquez disease 2754 Váradi syndrome 2754 Váradi-Papp syndrome Variably protease-sensitive 454742 prionopathy 314652 Variant ABeta2M amyloidosis 79253 Variant phenylketonuria 79253 Variant PKU 79473 Variegate porphyria 404553 Vasculitis due to ADA2 deficiency 404553 Vasculitis due to DADA2 Vasoproliferative tumor of the 353356 ocular fundus Vasoproliferative tumor of the 353356 retina →261483 Vasquez-Hurst-Sotos syndrome 85128 Västerbotten dystrophy 887 VATER association

ORPHA number

52047

228379 898 289157 93160 289157 2460 93160 1053 1053 3424 567 29207 319234 357131 357131 357131 83454 357131 357131 357131 357131 3201 216694 99094 216694 860 443988 2899 2496 50817 2983 2551 3429 70476 97282 464318 79467 26793 431347

Disease name

Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency VATS VCAN-related vitreoretinopathy VDDI VDDR II VDDR-I VDEGS VDRR II Vein of Galen aneurysm Vein of Galen arteriovenous malformations Velo-facial-skeletal syndrome Velocardiofacial syndrome Venereal arthritis Venezuelan hemorrhagic fever Venous cervical rib syndrome Venous costoclavicular syndrome Venous hyperabduction syndrome Venous malformations with glomus cells Venous scalenus anticus syndrome Venous thoracic outlet compression syndrome Venous thoracic outlet syndrome Venous TOS Ventricular extrasystoles with syncopal episodes-perodactylyRobin sequence syndrome Ventricular inversion Ventricular septal defect with aortic insufficiency Ventriculoarterial and atrioventricular discordance Ventriculoarterial discordance with atrioventricular concordance Ventriculomegaly-cystic kidney disease Verloes-Bourguignon syndrome Verloes-David syndrome Verloes-Deprez syndrome Verloes-Gillerot-Fryns syndrome Verloes-Van Maldergem-de Marneffe syndrome Verloove Vanhorick-Brubakk syndrome Vernal keratoconjunctivitis Verner-Morrison syndrome Verrucous hemangioma Verrucous nevus Very long chain acyl-CoA dehydrogenase deficiency Vesicourachal diverticulum



165

ORPHA Disease name number 252175 Vestibular schwannoma 892 VHL

ORPHA number

493348 Vibratory angioedema 493342 Vibratory urticaria 1493 Vici syndrome

289157

3433 3434 97282 97282 206991 180176 99916 158048 228379 280068 1876

73246

353344 420556 3006 28 79310 79311

308442

28 79310 79311

308442

27 79312 289916 27 79312

Viljoen-Kallis-Voges syndrome Viljoen-Smart syndrome VIP-secreting tumor VIPoma Viral myositis Virginal breast hypertrophy Virilizing ovarian tumor Virus-associated hemophagocytic syndrome Virus-associated trichodysplasia spinulosa Visceral calciphylaxis Visceral myopathy-familial external ophthalmoplegia syndrome Visceral neuropathy-brain anomalies-facial dysmorphismdevelopmental delay syndrome Visible and exudative idiopathic juxtafoveolar retinal telangiectasis Visual snow syndrome Vitamin B6-dependent seizures Vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-responsive methylmalonic acidemia, type cblDv2 Vitamin B12-responsive methylmalonic aciduria Vitamin B12-responsive methylmalonic aciduria type cblA Vitamin B12-responsive methylmalonic aciduria, type cblB Vitamin B12-responsive methylmalonic aciduria, type cblDv2 Vitamin B12-unresponsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia type mutVitamin B12-unresponsive methylmalonic acidemia type mut0 Vitamin B12-unresponsive methylmalonic aciduria Vitamin B12-unresponsive methylmalonic aciduria type mut-

289916

289157 93160 93160 1914 1914 1243 179 898 26793 26793 386 443988 2451 83454 79124 3437 494 79395 2427 35737 83600 364 892 892 238557 386 636 363700 3439 903 166078 166081 166084 166087 166090 166093 166096 466934

Disease name

Vitamin B12-unresponsive methylmalonic aciduria type mut0 Vitamin D dependent rickets type I Vitamin D-dependency type I Vitamin D-dependent rickets type II Vitamin D-resistant rickets type II Vitamin K antagonist embryofetopathy Vitamin K antagonist embryopathy Vitelliform macular dystrophy type 2 Vitiliginous choroiditis Vitreoretinal degeneration, Wagner type VLCAD deficiency VLCADD VMC VMCKD VMCM VMGLOM VODI syndrome Vogt-Koyanagi-Harada disease Vohwinkel syndrome Vohwinkel syndrome with ichthyosis Volcke-Soekarman syndrome Volubilis syndrome Von Economo encephalitis Von Gierke disease Von Hippel-Lindau disease Von Hippel-Lindau syndrome Von Hippel-Lindau-dependent polycythemia Von Meyenburg complexes disease Von Recklinghausen disease Von Recklinghausen disease due to NF1 mutation or intragenic deletion Von Voss-Cherstvoy syndrome Von Willebrand disease Von Willebrand disease type 1 Von Willebrand disease type 2 Von Willebrand disease type 2A Von Willebrand disease type 2B Von Willebrand disease type 2M Von Willebrand disease type 2N Von Willebrand disease type 3 VPS11-related autosomal recessive hypomyelinating leukodystrophy

ORPHA number

Disease name

VPS11-related autosomal 466934 recessive hypomyelinating

leukoencephalopathy 369852 VPS45 deficiency 353356 VPTR 99094 VSD with aortic insufficiency 357131 VTOS 494454 Vulvar adenocarcinoma 494451 Vulvar basal cell carcinoma 137583 Vulvar intraepithelial neoplasia 137583 Vulvar intraepithelial tumor 494448 Vulvar squamous cell carcinoma 83453

Vulvovaginal gingival syndrome

206492 Vulvovaginal rhabdomyosarcoma 53696 Vuopala disease 888 2804 2180 1106 3440 894 895 352740 896 897 894 895 896 896 897 98960 897 280558 466943 247709 898 898 893 90033 357332 90033 2379 33226 90362 1068 899 1453

VWS W syndrome Waaler-Aarskog syndrome Waardenburg anophthalmia syndrome Waardenburg syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 2 with ocular albinism Waardenburg syndrome type 3 Waardenburg syndrome type 4 Waardenburg syndrome type I Waardenburg syndrome type II Waardenburg syndrome type III Waardenburg syndrome with limb anomalies Waardenburg-Hirschsprung syndrome Waardenburg-Jonker corneal dystrophy Waardenburg-Shah syndrome WABS WAC-related facial dysmorphismdevelopmental delay-behavioral abnormalities syndrome Wagenmann-Froboese syndrome Wagner disease Wagner syndrome WAGR syndrome wAHA Wahab syndrome wAIHA Waisman syndrome Waldenström macroglobulinemia Waldmann disease Walker-Dyson syndrome Walker-Warburg syndrome Wallis-Zieff-Goldblatt syndrome



166

ORPHA Disease name number 2510 WARBM 2510 Warburg micro syndrome 3214 Warburg-Thomsen syndrome 1052 1914 1914 96061 90033 1541 280558 51636

51636 69745 906 1046 100067 97282 →636 33577 284395 97282 99971 603 3447 →3447 3448 33577 33577 1521 900 228254 3449 3344 3344 3450 284395 99971 213736

213736

213736

Warburton-Anyane-Yeboa syndrome Warfarin embryofetopathy Warfarin embryopathy Warkany syndrome Warm AIHA Warman-Mulliken-Hayward syndrome Warsaw breakage syndrome Warts-hypogammaglobulinemiainfections-myelokathexis syndrome Warts-infections-leukopeniamyelokatexis syndrome Warty dyskeratoma WAS Water-West syndrome Waterhouse-Friderichsen syndrome Watery diarrhea-hypokalemiaachlorhydria syndrome Watson syndrome WCD WDFA WDHA syndrome WDLS WDM Weaver syndrome Weaver-like syndrome Weaver-Williams syndrome Weber-Christian disease Weber-Christian panniculitis Webster-Deming syndrome Wegener granulomatosis Weidman juvenile elastoma Weill-Marchesani syndrome Weismann-Netter syndrome Weismann-Netter-Stuhl syndrome Weissenbacher- Zweymuller syndrome Well-differentiated fetal adenocarcinoma of the lung Well-differentiated liposarcoma Well-differentiated neuroendocrine neoplasm of the endometrium Well-differentiated neuroendocrine tumor of the corpus uteri Well-differentiated neuroendocrine tumor of the endometrium

ORPHA number 263331 146 1373 901 2815 83330 652 3332 902 1979 3451 83476 83476 2435 83593 83593 681 952 952 →2750 51636 3452 2053 228290 2475

3207 370131 171723 171723 1489 2779 3454 116 2156 3455 319182 85446 85446 330001 330001 3456 739

Disease name

Well-differentiated thymic neuroendocrine carcinoma Well-differentiated thyroid carcinoma Wellesley-Carman-French syndrome Wells syndrome Wells-Jankovic syndrome Werdnig-Hoffmann disease Wermer syndrome Werner mesomelic syndrome Werner syndrome Werner-like syndrome due to combined growth factor deficiency West syndrome West-Nile encephalitis West-Nile fever Westerhof-Beemer-Cormane syndrome Western equine encephalitis Western equine encephalomyelitis Westphall disease Weyers acrodental dysostosis Weyers acrofacial dysostosis Whelan syndrome WHIM syndrome Whipple disease Whistling face syndrome White fibrous papulosis of the neck White forelock with malformations White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome White platelet syndrome White sponge nevus White sponge nevus of Cannon Whooping cough Whyte-Murphy syndrome Wieacker-Wolff syndrome Wiedemann-Beckwith syndrome Wiedemann-Oldigs-Oppermann syndrome Wiedemann-Rautenstrauch syndrome Wiedemann-Steiner syndrome Wild type ABeta2-microglobulinic amyloidosis Wild type ABeta2M amyloidosis Wild type ATTR amyloidosis Wild type ATTR-related amyloidosis Wildervanck syndrome Willi-Prader syndrome

ORPHA Disease name number 904 Williams syndrome 904 Williams-Beuren syndrome 411501 Williams-Campbell syndrome 51636 WILM 654 Wilms tumor 220

893 905 3459 3460 169095 94087 2515 906 829 2228 101068 →280 3237 3344 247768 1667 280 3080 3463 411590 75233 3464 2571 137658 170 79414 1409

420686

65282

420686

65282 170 79414 1409

Wilms tumor and pseudohermaphroditism Wilms tumor-aniridiagenitourinary anomaliesintellectual disability syndrome Wilson disease Wilson-Turner syndrome Winchester syndrome Winged helix deficiency Winkelmann cytophagic panniculitis Winship-Viljoen-Leary syndrome Wiskott-Aldrich syndrome Wissler-Fanconi syndrome Witkop syndrome Witschel dystrophy Wittwer syndrome WL syndrome WNS WNT4 deficiency Wolcott-Rallison syndrome Wolf-Hirschhorn syndrome Wolff-Zimmermann syndrome Wolfram syndrome Wolfram-like syndrome Wolman disease Woodhouse-Sakati syndrome Woods-Black-Norbury syndrome Woods-Crouchman-Huson syndrome Woolly hair Woolly hair nevus Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome Woolly hair-palmoplantar hyperkeratosis syndrome Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome Woolly hair-palmoplantar keratoderma syndrome Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Wooly hair Wooly hair nevus Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome



167

ORPHA number

Disease name

Wooly hair-palmoplantar 65282 hyperkeratosis-dilated

65282

166277 3465 2790 178475 165955 2834 2834 1667 902 894 895 896 897 163746 2834 3466 3459 3411 899 53719 96201 43 300373 448348 448372 2182 448348 448372 43 47 43 88917 85278 181 85297 85292

139583 1131

cardiomyopathy syndrome Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Wormian bone-multiple fracturesdentinogenesis imperfecta-skeletal dysplasia Worster-Drought syndrome Worth syndrome Wound botulism Wound myiasis Wrinkled skin syndrome Wrinkly skin syndrome WRS WS WS1 WS2 WS3 WS4 WS4 plus WSS WT limb-blood syndrome WTS Wunderlich syndrome WWS Wyburn-Mason syndrome X small rings X-ALD X-LAG (X-linked acrogigantism) X-LAG (X-linked acrogigantism) due to a point mutation X-LAG (X-linked acrogigantism) due to dup(X)q(26) X-linked acqueductal stenosis X-linked acrogigantism due to a point mutation X-linked acrogigantism due to Xq26 microduplication X-linked adrenoleukodystrophy X-linked agammaglobulinemia X-linked ALD X-linked Alport syndrome X-linked Angelman-like syndrome X-linked anhidrotic ectodermal dysplasia X-linked ataxia-deafness syndrome X-linked ataxia-dementia syndrome X-linked auditory neuropathy with peripheral sensory neuropathy type 1 X-linked branchial arch syndrome

ORPHA Disease name number 481 X-linked BSMA 481 X-linked bulbospinal amyotrophy 481 391327 111

329235

329235 596 139396 163961 101075 101076 101077 101078 99014 352675 35173 324601

431140

431140

1497 306617 90001 95702

67044

79495 565

X-linked bulbospinal muscular atrophy X-linked calvarial hyperostosis X-linked cardioskeletal myopathy and neutropenia X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked centronuclear myopathy X-linked cerebral adrenoleukodystrophy X-linked cerebral-cerebellarcoloboma syndrome syndrome X-linked Charcot-Marie-Tooth disease type 1 X-linked Charcot-Marie-Tooth disease type 2 X-linked Charcot-Marie-Tooth disease type 3 X-linked Charcot-Marie-Tooth disease type 4 X-linked Charcot-Marie-Tooth disease type 5 X-linked Charcot-Marie-Tooth disease type 6 X-linked chondrodysplasia punctata type 2 X-linked cleft palate and ankyloglossia X-linked colobomatous microphthalmia-microcephalyintellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephalyshort stature-psychomotor retardation syndrome X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia type 1 X-linked cone dysfunction syndrome with myopia X-linked congenital adrenal hypoplasia X-linked congenital dyserythropoietic anemia with thrombocytopenia X-linked congenital generalized hypertrichosis X-linked copper deficiency

ORPHA Disease name number 1661 X-linked corneal dermoid 52503 85453 198 383 85321 139557 1018 1145 139557 139557 35173

163966

163966

443197 93951 443197 139557 363727

373 53351 75497 98863 293621

85294

443197

500188

480880

X-linked creatine transporter deficiency X-linked cutaneous amyloidosis X-linked cutis laxa X-linked deafness type 2 X-linked deafness-intellectual disability syndrome syndrome X-linked dHMN3 X-linked diffuse leiomyomatosisAlport syndrome X-linked distal arthrogryposis multiplex congenita X-linked distal hereditary motor neuropathy type 3 X-linked distal spinal muscular atrophy type 3 X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, ChassaingLacombe type X-linked dominant chondrodysplasia-hydrocephalymicrophthalmia syndrome X-linked dominant erythropoietic protoporphyria X-linked dominant intellectual disability-epilepsy syndrome X-linked dominant protoporphyria X-linked dSMA3 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia X-linked dysplasia gigantism syndrome X-linked dystonia-parkinsonism X-linked Ehlers-Danlos syndrome X-linked Emery-Dreifuss muscular dystrophy X-linked endothelial corneal dystrophy X-linked epilepsy-learning disabilities-behavior disorders syndrome X-linked erythropoietic protoporphyria X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females



168

ORPHA number

480880

→994 139583 139583 2182 2182 2182

1397 101088 181 89936 89936 461 231692 317476

2571 16 364028 3242

67045

776 85273 85274 85276 1193 3056 85293 85277 163971

Disease name

X-linked female restricted facial dysmorphism-short staturechoanal atresia-intellectual disability X-linked fetal akinesia syndrome X-linked hereditary sensory and autonomic neuropathy with deafness X-linked HSAN with deafness X-linked HSAS X-linked hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome X-linked hyper-IgM syndrome X-linked hypohidrotic ectodermal dysplasia X-linked hypophosphatemia X-linked hypophosphatemic rickets X-linked ichthyosis X-linked IGHD X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunoneurologic disorder X-linked incomplete achromatopsia X-linked intellectual disability due to GRIA3 anomalies X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with marfanoid habitus X-linked intellectual disability, Abidi type X-linked intellectual disability, Ahmad type X-linked intellectual disability, Armfield type X-linked intellectual disability, Atkin type X-linked intellectual disability, Brooks type X-linked intellectual disability, Cabezas type X-linked intellectual disability, Cantagrel type X-linked intellectual disability, Cilliers type

ORPHA number

Disease name

X-linked intellectual disability, Fichera type X-linked intellectual disability, 93947 Golabi-Ito-Hall type X-linked intellectual disability, Gu →457240 type X-linked intellectual disability, 93952 Hedera type X-linked intellectual disability, 163961 Kroes type X-linked intellectual disability, →1762 Lubs type X-linked intellectual disability, 85283 Miles-Carpenter type X-linked intellectual disability, 163937 Najm type X-linked intellectual disability, 163956 Nascimento type X-linked intellectual disability, Pai 85322 type X-linked intellectual disability, 93945 Porteous type X-linked intellectual disability, →776 Raymond type X-linked intellectual disability, 3242 Renpenning type X-linked intellectual disability, 85285 Schimke type X-linked intellectual disability, 85323 Seemanova type X-linked intellectual disability, 85286 Shashi type X-linked intellectual disability, 85324 Shrimpton type X-linked intellectual disability, 85287 Siderius type X-linked intellectual disability, 3063 Snyder type X-linked intellectual disability, 85278 South African type X-linked intellectual disability, 85325 Stevenson type X-linked intellectual disability, 85288 Stocco Dos Santos type X-linked intellectual disability, 85326 Stoll type X-linked intellectual disability, 93950 Sutherland-Haan type X-linked intellectual disability, 85328 Turner type X-linked intellectual disability, Van 163976 Esch type X-linked intellectual disability, →85293 Vitale type X-linked intellectual disability, 85290 Wilson type →93950

ORPHA number →280 →59

85327

85338

324410

137831

459070

85295

85330

85278

163979

85280

1568

2958

94083

85319

85282

480907

3459

85317

Disease name

X-linked intellectual disability, Wittwer type X-linked intellectual disability, Zorick type X-linked intellectual disabilityacromegaly-hyperactivity syndrome X-linked intellectual disabilityataxia-apraxia syndrome X-linked intellectual disabilitycardiomegaly-congestive heart failure syndrome X-linked intellectual disabilitycerebellar hypoplasia syndrome X-linked intellectual disabilitycerebellar hypoplasia-spondyloepiphyseal dysplasia syndrome X-linked intellectual disabilitychoreoathetosis-abnormal behavior syndrome X-linked intellectual disabilitycorpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disabilitycraniofacial dysmorphismepilepsy-ophthalmoplegiacerebellar atrophy syndrome X-linked intellectual disabilitycraniofacioskeletal syndrome X-linked intellectual disabilitycubitus valgus-dysmorphism syndrome X-linked intellectual disabilityDandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked intellectual disabilitydysmorphism-cerebral atrophy syndrome X-linked intellectual disabilitydystonia-dysarthria syndrome X-linked intellectual disabilityepilepsy-progressive joint contractures-dysmorphism syndrome X-linked intellectual disabilityepileptic seizures-hypogenitalismmicrocephaly-obesity syndrome X-linked intellectual disabilityglobal development delay-facial dysmorphism-sacral caudal remnant syndrome X-linked intellectual disabilitygynecomastia-obesity syndrome X-linked intellectual disabilityhypogammaglobulinemiaprogressive neurological deterioration syndrome



169

ORPHA number 3055

59

85329

457260

→1762

423479

85320

251383

163937

163971

→3057

163956 2898

85318

3077

85332 3052

457240

→702

163982 231692

Disease name

X-linked intellectual disabilityhypogonadism-ichthyosis-obesityshort stature syndrome X-linked intellectual disabilityhypotonia syndrome X-linked intellectual disabilityhypotonia-facial dysmorphismaggressive behavior syndrome X-linked intellectual disabilityhypotonia-movement disorder syndrome X-linked intellectual disabilityhypotonia-recurrent Infections syndrome X-linked intellectual disability-limb spasticity-retinal dystrophydiabetes insipidus syndrome X-linked intellectual disabilitymacrocephaly-macroorchidism syndrome X-linked intellectual disabilitymicrocephaly-cortical malformation-thin habitus syndrome X-linked intellectual disabilitymicrocephaly-pontocerebellar hypoplasia syndrome X-linked intellectual disabilitymicrocephaly-testicular failure syndrome X-linked intellectual disabilitymonoamine oxidase A metabolism anomaly syndrome X-linked intellectual disability-nail dystrophy-seizures syndrome X-linked intellectual disabilityplagiocephaly syndrome X-linked intellectual disabilityprecocious puberty-obesity syndrome X-linked intellectual disabilitypsychosis-macroorchidism syndrome X-linked intellectual disabilityretinitis pigmentosa syndrome X-linked intellectual disabilityseizures-psoriasis syndrome X-linked intellectual disabilityshort stature-overweight syndrome X-linked intellectual disabilityspastic paraplegia with iron deposits syndrome X-linked intellectual disabilityspastic quadriparesis syndrome X-linked isolated growth hormone deficiency

ORPHA number 90625 90625 90625 90625 792 482606

79447 2148 452 452

452

2442 1131 1131 59306 319605

319623

319612

319612

435938

383 383 383 383 383 319605 319623

Disease name

X-linked isolated neurosensory deafness type DFN X-linked isolated neurosensory hearing loss type DFN X-linked isolated sensorineural deafness type DFN X-linked isolated sensorineural hearing loss type DFN X-linked juvenile retinoschisis X-linked keloid scarring-reduced joint mobility-increased optic cupto-disc ratio syndrome X-linked lethal multiple pterygium syndrome X-linked lissencephaly type 1 X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with ambiguous genitalia X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome X-linked lymphoproliferative disease X-linked mandibulofacial dysostosis X-linked mandibulofacial dysostosis with limb anomalies X-linked McLeod syndrome X-linked mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency X-linked microcephaly-growth retardation-prognathismcryptorchidism syndrome X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural deafness X-linked mixed conductive and sensorineural hearing loss X-linked mixed deafness with perilymphatic gusher X-linked MSMD X-linked MSMD due to CYBB deficiency

ORPHA number 319612 319612 25980 178461 596 456328 85334 85336 314978 777 777 90625

90625

90625

90625 293707 306597 306597 306597 391330 363654 1175 1652

83648 1652 54 85453 1852 792 431272 431272

Disease name

X-linked MSMD due to IKBKG deficiency X-linked MSMD due to NEMO deficiency X-linked myopathy with excessive autophagy X-linked myopathy with postural muscle atrophy X-linked myotubular myopathy X-linked myotubular myopathyabnormal genitalia syndrome X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Hamel type X-linked non progressive cerebellar ataxia X-linked non-specific intellectual disability X-linked non-syndromic intellectual disability X-linked non-syndromic neurosensory deafness type DFN X-linked non-syndromic neurosensory hearing loss type DFN X-linked non-syndromic sensorineural deafness type DFN X-linked non-syndromic sensorineural hearing loss type DFN X-linked Ohdo syndrome X-linked Opitz BBB/G syndrome X-linked Opitz G/BBB syndrome X-linked Opitz syndrome X-linked osteoporosis with fractures X-linked parkinsonism-spasticity syndrome X-linked progressive cerebellar ataxia X-linked recessive hypercalciuric hypophosphatemic rickets X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome X-linked recessive nephrolithiasis X-linked recessive ocular albinism X-linked reticulate pigmentary disorder X-linked retinal dysplasia X-linked retinoschisis X-linked scapuloperoneal muscular dystrophy X-linked scapuloperoneal syndrome



170

ORPHA number 86788 75563 2802 2802 1436 99015 100997 171607 3175 481 1145 404521 85297 85292 314978 431272 93349 168544 383 852 3467 93602

93601 93601 93601 3467 93601 93602 158003 79433 79155 67044 93602 93601 53351 293621 910

Disease name

X-linked severe congenital neutropenia X-linked sideroblastic anemia X-linked sideroblastic anemia and spinocerebellar ataxia X-linked sideroblastic anemia with ataxia X-linked skeletal dysplasiaintellectual disability syndrome X-linked spastic paraplegia type 2 X-linked spastic paraplegia type 16 X-linked spastic paraplegia type 34 X-linked spasticity-intellectual disability-epilepsy syndrome X-linked spinal and bulbar muscular atrophy X-linked spinal muscular atrophy type 2 X-linked spinal muscular atrophy with respiratory distress X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 X-linked spinocerebellar ataxia type 5 X-linked SPMD X-linked spondyloepimetaphyseal dysplasia X-linked spondylometaphyseal dysplasia X-linked stapes gusher syndrome X-linked thrombocytopenia with normal platelets Xanthic urolithiasis Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency Xanthine dehydrogenase deficiency Xanthine oxidase deficiency Xanthine oxidoreductase deficiency Xanthine stone disease Xanthinuria type I Xanthinuria type II Xanthoma disseminatum Xanthous oculocutaneous albinism Xanthurenic aciduria XDAT XDH and AOX dual deficiency XDH deficiency XDP XECD Xeroderma pigmentosum

ORPHA Disease name number 90342 Xeroderma pigmentosum variant →910 220295 75496 181 101088 412069 3469 3469 3469 452 596 443197 264580 89936 461 596 54 306597 2442 443197 85453 443197 792 75563 2802 231393 25980 317476 178461 93601 93601 910 220295 261476 261476 284180 1643 363654 90342 314389 1018 261483 261483 456328 243

Xeroderma pigmentosum with neurologic manifestation Xeroderma pigmentosumCockayne syndrome complex XGPT deficiency XHED XHIGM Xia-Gibbs syndrome XK aprosencephaly syndrome XK syndrome XK-aprosencephaly XLAG (X-linked lissencephaly with abnormal genitalia) syndrome XLCNM XLDPP XLG XLH XLI XLMTM XLOA XLOS XLP XLP XLPDR XLPP XLRS XLSA XLSA-A XLTT XMEA XMEN XMPMA XO deficiency XOR deficiency XP XP/CS complex Xp21 contiguous gene deletion syndrome Xp21 microdeletion syndrome Xp22.13p22.2 duplication syndrome Xp22.3 microdeletion syndrome XPDS XPV Xq12-q13.3 duplication syndrome Xq22.3 microdeletion syndrome Xq27.3-q28 microduplication syndrome Xq27.3q28 duplication syndrome Xq28 contiguous gene deletion syndrome XX female gonadal dysgenesis

ORPHA number 2855 393 243 3375 168558 1770 2843 75496 370930 8 8 2616 99829 99829 662 79434 3214 707 99829 662 876 252006 252006 2828 2255 3240 488642 314485 314485 3471 3055 2828 477817 3472 319213 98912 97240 217017 912 369942 50812 911 448237

Disease name

XX gonodal dysgenesis-deafness syndrome XX, male syndrome XX-GD XXX syndrome XY sex reversal-adrenal failure syndrome XY type gonadal dysgenesisassociated anomalies syndrome Xylitol dehydrogenase deficiency Xylosylprotein 4-betagalactosyltransferase deficiency XYLT1-CDG XYY syndrome Y disomy Yakut short stature syndrome Yellow fever Yellow Jack Yellow nail syndrome Yellow oculocutaneous albinism Yemenite deaf-blind hypopigmentation syndrome Yersiniosis YF YNS Yolk sac tumor Yolk sac tumor of central nervous system Yolk sac tumor of CNS YOPD Yorifuji-Okuno syndrome Yoshimura-Takeshita syndrome You-Hoover-Fong syndrome Young adult-onset dHMN Young adult-onset distal hereditary motor neuropathy Young syndrome Young-Hughes syndrome Young-onset Parkinson disease Yuan-Harel-Lupski syndrome Yunis-Varon syndrome Zambian hemorrhagic fever ZASP-related myofibrillar myopathy Zebra body myopathy Zechi-Ceide syndrome Zellweger syndrome Zellweger-like contiguous gene deletion syndrome Zellweger-like syndrome without peroxisomal anomalies Zeta-associated-protein 70 deficiency Zika virus disease



171

ORPHA Disease name number 448237 Zika virus infection 3301 Zimmer phocomelia 3473 439196 1775 3253 3253 913 2835 912 3474 295187 295189 295191 295193 295193 295189 295191 295187 73263

Zimmermann-Laband syndrome Zinc-responsive necrolytic acral erythema Zinsser-Engman-Cole syndrome Zlotogora-Ogur syndrome Zlotogora-Zilberman-Tenenbaum syndrome Zollinger-Ellison syndrome Zori-Stalker-Williams syndrome ZS Zunich-Kaye syndrome Zygodactyly type 1 Zygodactyly type 2 Zygodactyly type 3 Zygodactyly type 4 Zygodactyly, Castilla type Zygodactyly, Lueken type Zygodactyly, Montagu type Zygodactyly, Weidenreich type Zygomycosis



172

ANNEX

→ Use these ORPHA number

List of diseases to be used instead of deprecated entities → Use these ORPHA number ORPHA number

59 113 113

138

Disease to be used

Allan-Herndon-Dudley syndrome Bazex-Dupré-Christol syndrome Bazex-Dupré-Christol syndrome CHARGE syndrome

instead of the deprecated entities Deprecated ORPHA number

85337 79458

Oley syndrome

1474

138

CHARGE syndrome

1474

144

Lynch syndrome

99817

175

Cartilage-hair hypoplasia

1838

175


1838

175


93275

193

Cohen syndrome

3084

193

Cohen syndrome

3084

193

Cohen syndrome

2829

193

Cohen syndrome

3271

193

Cohen syndrome

3271

244

Primary ciliary dyskinesia

98861

244

Primary ciliary dyskinesia

98861

244 244 244 280 280 280

280

Primary ciliary dyskinesia Primary ciliary dyskinesia Primary ciliary dyskinesia Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome

98861

ORPHA number

Disease to be used

Deprecated ORPHA number

288

Hereditary elliptocytosis

98867

288


98864

288


98865

Deprecated entities

X-linked intellectual disability, Zorick type

79458

Congenital hypotrichosismilia syndrome Colobomatousmicrophthalmia-heart disease-hearing loss syndrome Hittner-Hirsch-Kreh syndrome Non-polyposis Turcot syndrome Metaphyseal dysplasia without hypotrichosis Cartilage-hair hypoplasialike-skeletal dysplasia without hypotrichosis syndrome Thanatophoric dysplasia, Glasgow variant Mirhosseini-HolmesWalton syndrome Pigmentary retinopathyintellectual disability syndrome Partington-Anderson syndrome Radio-ulnar synostosisretinal pigment abnormalities syndrome Buntinx-Lormans-Martin syndrome Primary ciliary dyskinesia, Kartagener type Dextrocardiabronchiectasis-sinusitis syndrome Immotile cilia syndrome, Kartagener type

300 300

2981 1940

528

Berardinelli-Seip congenital lipodystrophy

1060

528 636 636 636 636 646 646

Berardinelli-Seip congenital lipodystrophy Neurofibromatosis type 1 Neurofibromatosis type 1 Neurofibromatosis type 1 Neurofibromatosis type 1 Niemann-Pick disease type C Niemann-Pick disease type C

3444 2029 2029 79289 79289

Pallister-Hall syndrome Hyperkalemic periodic paralysis Hyperkalemic periodic paralysis Hyperkalemic periodic paralysis Hyperkalemic periodic paralysis Hyperkalemic periodic paralysis

2113

682 682

680

NormoKPP

680

NormoPP

680

Normokalemic PP

680

Periodic paralysis type 3

Hyperkalemic periodic paralysis

680

702

Pelizaeus-Merzbacher disease

85333

85291

X-linked intellectual disability, Wittwer type

702

85291

Wittwer syndrome

776 782 782 782

Pelizaeus-Merzbacher disease X-linked intellectual disability with marfanoid habitus Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome


Pulmonic stenosis with 'café-au-lait' spots Multiple non-ossifying fibromatosis Jaffe-Campanacci syndrome Niemann-Pick disease type D Niemann-Pick disease, Nova Scotia type Congenital hypothalamic hamartoma syndrome CHHS Normokalemic periodic paralysis

680

682

Siewert syndrome

Shoulder and thorax deformity-congenital heart disease syndrome Systemic cystic angiomatosis-Seip syndrome

Watson syndrome

672

682

Thiolase deficiency

3444

2113

682

Hereditary pyropoikilocytosis Common hereditary elliptocytosis Homozygous hereditary elliptocytosis Pseudo-Zellweger syndrome

Brunzell syndrome

Pallister-Hall syndrome

682

Deprecated entities

1060

672

98861

98788

2981

Holt-Oram syndrome

Kartagener syndrome

Pitt-Rogers-Danks syndrome Intellectual disabilitydysmorphism-intrauterine growth retardation syndrome

Bifunctional enzyme deficiency Bifunctional enzyme deficiency

392

98861

98788

instead of the deprecated entities

Potassium-sensitive normokalemic periodic paralysis X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

85333

Arena syndrome

163953

X-linked intellectual disability, Raymond type

1831

De Hauwere syndrome

1831 1831

De Hauwere-Chitty syndrome Iris dysplasiahypertelorism-deafness syndrome

173

→ Use these ORPHA number ORPHA number

794 794 794 794 798 823

Disease to be used

Saethre-Chotzen syndrome Saethre-Chotzen syndrome Saethre-Chotzen syndrome Saethre-Chotzen syndrome Schinzel-Giedion syndrome Isolated spina bifida


Aurocephalosyndactyly

1219

Auralcephalosyndactyly

1219

Kurczynski-Casperson syndrome

3106

Robinow-Sorauf syndrome

3118

Rudiger syndrome

93968

Meningocele Achalasia-alacrimia syndrome

1159

ABCD syndrome

1159

99777

897

Waardenburg-Shah syndrome

918

897

Waardenburg-Shah syndrome

918

910

Xeroderma pigmentosum

1569

910

Xeroderma pigmentosum

1569

912

Zellweger syndrome

1271

955

Acroosteolysis dominant type

2853

955

Acroosteolysis dominant type

2853

969

Acromicric dysplasia

2569

969

Acromicric dysplasia

2569

994 1071

1071

1071

1071

1071

1071

1071

1071

1071

1071

Triple A syndrome

Fetal akinesia deformation sequence Fetal akinesia deformation sequence Ankyloblepharonectodermal defects-cleft lip/palate syndrome Ankyloblepharonectodermal defects-cleft lip/palate syndrome Ankyloblepharonectodermal defects-cleft lip/palate syndrome Ankyloblepharonectodermal defects-cleft lip/palate syndrome Ankyloblepharonectodermal defects-cleft lip/palate syndrome Ankyloblepharonectodermal defects-cleft lip/palate syndrome Ankyloblepharonectodermal defects-cleft lip/palate syndrome

ORPHA number

1219

869

994

Deprecated entities


995 995

Albinism-black lock-cell migration disorder of the neurocytes of the gutsensorineural deafness syndrome De Sanctis-Cacchione syndrome Xeroderma pigmentosum with neurologic manifestation Bowen syndrome Serpentine fibulapolycystic kidneys syndrome

Moore-Federman syndrome Dwarfism-stiff joint-ocular abnormalities syndrome X-linked fetal akinesia syndrome Holmes-Benacerraf syndrome CHAND syndrome

1401

Baughman syndrome

1401

3022

3022

3022

1215

1215

Rapp-Hodgkin syndrome Anhidrotic ectodermic dysplasia-cleft lip/palate syndrome Ectodermal dysplasia syndrome, Rapp-Hodgkin type

Ankyloblepharonectodermal defects-cleft lip/palate syndrome Progressive pseudorheumatoid arthropathy of childhood Progressive pseudorheumatoid arthropathy of childhood Choanal atresia-hearing loss-cardiac defectscraniofacial dysmorphism syndrome Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome

Ectodermal dysplasia, Rapp-Hodgkin type

3022

RHS

99694

Alveolar synechiaankyloblepharonectodermal dysplasia syndrome

2654

Syndesmodysplasic dwarfism

2654

Laplane-FontaineLagardere syndrome

77302

Oculo-oto-facial dysplasia

3349

Treft-Sanborn-Carey syndrome

3349

156723

1263

Boomerang dysplasia

156723

1299

Branchioskeletogenital syndrome

157788

1359

Carney complex

623

1359

Carney complex

623

1394

Cerebrofaciothoracic dysplasia

1234

3212

3212 79446

228407

1466 1466

Cerebrofaciothoracic dysplasia COFS syndrome COFS syndrome

1466

COFS syndrome

1317

1466

COFS syndrome

1317

1487

Cooks syndrome

2355

1394


Deprecated entities

3022

1263

1215

CHANDS Curly hairankyloblepharon-nail dysplasia syndrome

Ankyloblepharonectodermal defects-cleft lip/palate syndrome Ankyloblepharonectodermal defects-cleft lip/palate syndrome


Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome Bartsocas-Papas syndrome Boomerang dysplasia

1215

Exner syndrome

1401

1401

1200

Disease to be used


Optic atrophyophthalmoplegia-ptosisdeafness-myopathy syndrome Autosomal dominant optic atrophy and congenital deafness Konigsmark-Knox-Hussels syndrome Multiple pterygium syndrome, Aslan type Piepkorn dysplasia Short ribscraniosynostosispolysyndactyly syndrome Hypospadiashypertelorism-coloboma and deafness syndrome NAME syndrome Nevi-atrial myxomamyxoid neurofibromataephelides syndrome Craniofacial dysmorphismskeletal anomaliesintellectual disability syndrome

228407

TMCO1 defect syndrome

1317 1317

CAMFAK syndrome CAMAK syndrome Cataract-microcephalyarthrogryposis-kyphosis syndrome Cataract-microcephalyfailure to thrivekyphoscoliosis syndrome Kumar-Levick syndrome

174


1487

1509 1643 1658

1658

Disease to be used

Cooks syndrome Coxopodopatellar syndrome Xp22.3 microdeletion syndrome Absence of fingerprintscongenital milia syndrome Absence of fingerprintscongenital milia syndrome


2355

3112 431 1235

1235

1762

Trisomy Xq28

85281

1762

Trisomy Xq28

85281

1762

Trisomy Xq28

85281

1762

Trisomy Xq28

85281

1768

Familial caudal dysgenesis

1850

1768

Familial caudal dysgenesis

1850

1855

Spondyloenchondrodys plasia

50816

1855 1855 1855

Spondyloenchondrodys plasia Spondyloenchondrodys plasia Spondyloenchondrodys plasia

50816 50816 50816

1896

EEC syndrome

1888

1896

EEC syndrome

1888

1896

EEC syndrome

1889

1896 1896

EEC syndrome EEC syndrome

1889 2389

1896

EEC syndrome

2389

1900

1900

2036

2036

Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type Scalp-ear-nipple syndrome Scalp-ear-nipple syndrome

2691

2691

3391

3391

Deprecated entities

Nail dysplasiacamptodactylybrachydactyly type B syndrome Patella aplasia-coxa varatarsal synostosis syndrome Ichthyosis-male hypogonadism syndrome Ectodermal dysplasiaabsent dermatoglyphs syndrome Basan syndrome MECP2 duplication syndrome Lubs-Arena syndrome X-linked intellectual disability, Lubs type X-linked intellectual disability-hypotoniarecurrent Infections syndrome Renal dysplasiamegalocystis-sirenomelia syndrome Selig-Benacerraf-Greene syndrome Spondylometaphyseal dysplasia with combined immunodeficiency Roifman-Melamed syndrome


2036 2052 2199

2199

2199 2353 2353

Tuffli-Laxova syndrome

2051

Fraser-like syndrome

496

Thost-Unna palmoplantar keratoderma

496

Non-epidermolytic palmoplantar keratoderma

89833 1251 1251

91129

2510

Micro syndrome

2895

2510

Micro syndrome

2895

2512

Autosomal recessive primary microcephaly

52183

2526

Spondyloenchondrodyspla sia with immune dysregulation Ectrodactyly-ectodermal dysplasia without clefting syndrome EEC syndrome without cleft lip/palate Ectrodactyly-cleft palate syndrome ECP syndrome Lewis-Pashayan syndrome Cleft lip/palateectrodactyly syndrome

2616

2637 2686 2697

2697

2697

Nevo syndrome 2697

2697

2707

Microcephalylymphedemachorioretinopathy syndrome Isolated complex I deficiency 3M syndrome Microcephalic osteodysplastic primordial dwarfism type II Cyclic neutropenia Arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-renal dysfunction-cholestasis syndrome Oculocerebrofacial syndrome, Kaufman type


Deprecated entities

3391

Matthew-Wood syndrome

2609

Odonto-onychohypohidrotic dysplasiamidline scalp defects syndrome Ectodermal dysplasiaadrenal cyst syndrome

Scalp-ear-nipple syndrome Fraser syndrome Epidermolytic palmoplantar keratoderma Epidermolytic palmoplantar keratoderma Epidermolytic palmoplantar keratoderma Schilbach-Rott syndrome Schilbach-Rott syndrome


2470

SPENCDI

Cerebral gigantism, Nevo type

Disease to be used


Palmoplantar keratoderma with tonotubular keratin Blepharofacioskeletal syndrome Richieri Costa-Guion Almeida-Rodini syndrome Anophthalmia-heart and pulmonary anomaliesintellectual disability syndrome Pinsky-Di George-Harley syndrome Microphthalmiaintellectual disability syndrome Premature chromosome condensation with microcephaly and intellectual disability

1432

Autosomal dominant chorioretinopathymicrocephaly syndrome

936

Succinic acidemia

2661

46658 2689 1981

Dwarfism-tall vertebrae syndrome Primordial short staturemicrodontia-opalescent and rootless teeth syndrome Intermittent neutropenia Fanconi syndromeichthyosis-dysmorphism syndrome

1981

Deal-Barrat-Dillon syndrome

3438

Biliary tract malformationrenal failure syndrome

3438

Cholestatic jaundice-renal tubular insufficiency syndrome

3438

Lutz-Richner-Landolt syndrome

329255

Blepharophimosisintellectual disability syndrome due to UBE3B deficiency

175


2712 2712 2750 2750 2750 2750

Disease to be used

Oculofaciocardiodental syndrome Oculofaciocardiodental syndrome Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 1

2796

Pachydermoperiostosis

2882

Sitosterolemia

2909 2909 2995

2995

2995

2995

Rothmund-Thomson syndrome Rothmund-Thomson syndrome Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter cerebrofrontofacial syndrome


3013

Radiculomegaly of canine teethcongenital cataract

3013

Marashi-Gorlin syndrome

90649

Orofaciodigital syndrome type 7

90649

OFD7

90649

Oral-facial-digital syndrome type 7

90649

Whelan syndrome

Acromegaly-cutis verticis 964 gyrata-corneal leukoma syndrome Mediterranean 101022 macrothrombocytopenia Connective tissue 3333 dysplasia, Spellacy type Spellacy-Gibbs-Watts 3333 syndrome Short stature-intellectual 2649 disability-eye anomaliescleft lip/palate syndrome

1102 1102 1102 1678

1678

3157

Septo-optic dysplasia spectrum

2243

3157

3253 3447 3460 3460 3464 3464

2244 2244

X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome Anophthalmiahypothalamo-pituitary insufficiency syndrome 14q22 microdeletion syndrome Al Frayh-Facharzt-Haque syndrome Monosomy 14q22 Dincsoy-Salih-Patel syndrome Facial dysmorphismambiguous genitaliahypopituitarism-short limbs syndrome Hypopituitarismmicropenis-cleft lip/palate syndrome Hypopituitarismmicrophthalmia syndrome Kaplowitz-Bodurtha syndrome

Zlotogora-Ogur syndrome Weaver syndrome Torg-Winchester syndrome Torg-Winchester syndrome Woodhouse-Sakati syndrome Woodhouse-Sakati syndrome

3471

Young syndrome Lymphedemadistichiasis syndrome

Fryns-Aftimos syndrome


3157

Dehydrated hereditary stomatocytosis

94084

3157

Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum

3202

33001

1102

3157


Cerebro-oculo-faciallymphatic syndrome


3157

3157

94084

3157

3157


33001

3065

Disease to be used

3157

Richieri Costa-Guion Almeida syndrome

Monoamine oxidase A deficiency

Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum

ORPHA number

2649

3057

3157

Deprecated entities


33364

Lymphedemadistichiasis syndrome Trichothiodystrophy

33364

Trichothiodystrophy

33364

Trichothiodystrophy

33364 33364

Trichothiodystrophy Trichothiodystrophy

33364

Trichothiodystrophy

33364 33364 33364

Trichothiodystrophy Trichothiodystrophy Trichothiodystrophy

33364

Trichothiodystrophy

33364

Trichothiodystrophy

33364 33364

Trichothiodystrophy Trichothiodystrophy

33364

Trichothiodystrophy

33364

Trichothiodystrophy

33364

Trichothiodystrophy

33364

Trichothiodystrophy

33364

Trichothiodystrophy

33364

Trichothiodystrophy



Deprecated entities

Hypothalamic insufficiency-secondary 370006 microcephaly-visual impairment-urinary anomalies syndrome Corpus callosum 93943 dysgenesis-hypopituitarism syndrome Familial 100039 pseudohyperkalemia type 1 Margarita island 90338 ectodermal dysplasia 3446 Weaver-like syndrome Autosomal recessive 2775 carpotarsal osteolysis Hereditary multicentric 2775 osteolysis Alopecia-hypogonadism1011 extrapyramidal syndrome Devriendt-Legius-Fryns 1011 syndrome Bronchiectasis1301 oligospermia syndrome Distichiasis-congenital heart defects-peripheral 1683 vascular anomalies syndrome Lymphedema-ptosis 2419 syndrome 1245 BIDS syndrome Amish brittle hair 1245 syndrome Trichothiodystrophy type 1245 D 670 PIBIDS syndrome 670 Trichothiodystrophy type F Trichothiodystrophy-sun 670 sensitivity syndrome 453 IBIDS syndrome 453 Tay syndrome 453 Trichothiodystrophy type E Trichothiodystrophy with 453 congenital ichthyosis Onycho-tricho-dysplasia2739 neutropenia syndrome 2739 Itin syndrome 2739 ONMR syndrome Trichothiodystrophy type 2739 G Brittle hair syndrome, 3123 Sabinas type Brittle hair-mental 3123 deficiency syndrome Trichothiodystrophy type 3123 B Beta-thalassemia231256 trichothiodystrophy syndrome 75790 Pollitt syndrome

176



ORPHA number

Disease to be used

33364

Trichothiodystrophy

75790

33364

Trichothiodystrophy

75790

33364

Trichothiodystrophy

75790

33364

Trichothiodystrophy

75789

33364

Trichothiodystrophy

75789

35069 36899 36899 36899 42738 42775

Infantile neuroaxonal dystrophy Myoclonus-dystonia syndrome Myoclonus-dystonia syndrome Myoclonus-dystonia syndrome Severe congenital neutropenia

2174

Myoclonic dystonia 15

210566

DYT15

210566

Myoclonus-dystonia type 15

37629

Neonatal neutropenia

1564

42775

PHACE syndrome

3195

52368

Mohr-Tranebjaerg syndrome

3213

52430

Mohr-Tranebjaerg syndrome Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Jensen syndrome

54238

Myotonic dystrophy type 3

Muenke syndrome

1535

53271

Muenke syndrome

1535

56304

Atelosteogenesis type II

2640

56304 60030

Atelosteogenesis type II Loeys-Dietz syndrome

2640 97295

60030

Loeys-Dietz syndrome

97295

69061

69735

79189 79189

Dandy-Walker malformation-facial hemangioma syndrome Sternal malformationvascular dysplasia syndrome Deafness-opticoacoustic nerve atrophy-dementia syndrome

3213

53271

Idiopathic steroidsensitive nephrotic syndrome Hypotrichosislymphedematelangiectasia-renal defect syndrome Peroxisome biogenesis disorder Peroxisome biogenesis disorder

Trichorrhexis nodosa syndrome Trichothiodystrophy type C Trichothiodystrophyneurocutaneous syndrome syndrome SIBIDS syndrome Trichothiodystrophyosteosclerosis syndrome Hunter-CarpenterMcDonald syndrome

210566

PHACE syndrome

52368

Deprecated entities

97552

2087

Craniosynostosisdysmorphismbrachydactyly syndrome Glass-Chapman-Hockley syndrome Lethal short-limb dwarfism, McAlister-Crane type McAlister-Crane syndrome Furlong syndrome Marfanoid habituscraniosynostosis syndrome Steroid-sensitive nephrotic syndrome without renal biopsy Glomerulonephritis-sparse hair-telangiectasis syndrome

34

Pipecolic acidemia

34

Hyperpipecolatemia


79259

79259

79259

79259

Disease to be used

Glycogen storage disease due to glucose-6phosphatase deficiency type Ib Glycogen storage disease due to glucose-6phosphatase deficiency type Ib Glycogen storage disease due to glucose-6phosphatase deficiency type Ib Glycogen storage disease due to glucose-6phosphatase deficiency type Ib


79261

Glycogen storage disease type 1D

79261

Type 1D glycogenosis

79260

Glycogen storage disease type 1C

79260

Type 1C glycogenosis

79452

Milroy disease

79450

79452

Milroy disease

79450

79500

DOORS syndrome

1674

79500

DOORS syndrome

1674

79500

DOORS syndrome

1674

79502

Punctate palmoplantar keratoderma type 2

736

83628

LUMBAR syndrome

2125

85199 85293

Craniosynostosis-anal anomalies-porokeratosis syndrome X-linked intellectual disability, Cabezas type

86872

T-cell large granular lymphocyte leukemia

90186

Meige disease

90186 90340

Meige disease Blau syndrome Familial thoracic aortic aneurysm and aortic dissection Spondyloepiphyseal dysplasia tarda

91387 93284 93284

93950

95699

Spondyloepiphyseal dysplasia tarda X-linked intellectual disability, SutherlandHaan type Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency


Deprecated entities

2060

Non-hereditary congenital primary lymphedema Milroy-like disease Digitorenocerebral syndrome DRC syndrome Eronen-Somer-Gustafsson syndrome Palmoplantar porokeratosis of Mantoux Sacral hemangiomasmultiple congenital abnormalities syndrome Fukuda-MiyanomaeNakata syndrome

X-linked intellectual disability, Vitale type Neutropeniahyperlymphocytosis with 2687 large granular lymphocytes syndrome Non-hereditary late-onset 90185 primary lymphedema 90185 Meige-like disease 90341 Early-onset sarcoidosis Aortic dilatation-joint 88636 hypermobility-arterial tortuosity syndrome Spondyloepiphyseal 163673 dysplasia, Byers type Spondyloepiphyseal 163673 dysplasia-punctate corneal dystrophy syndrome 85289

93944

X-linked intellectual disability, Fichera type

63269

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

177


Disease to be used


Deprecated entities

63269

Ambiguous genitaliadisordered steroidogenesis Antley-Bixler-like syndrome

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Riboflavin transporter deficiency Riboflavin transporter deficiency Riboflavin transporter deficiency Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19/22 Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant dopa-responsive dystonia Autosomal dominant dopa-responsive dystonia Schnyder corneal dystrophy

Spinocerebellar ataxia 101107 type 22

168569

H syndrome

254723

168569

H syndrome

254723

168569

H syndrome

254712

168569

H syndrome

254712

95699

95699

95699

97229 97229 97229 98769 98769 98772 98772 98784

98784

98784

98784

98784

98808

98808 98967

63269

Antley-Bixler syndrome type 2

63269

Antley-Bixler syndrome, POR-related

56965

Progressive bulbar paralysis of childhood

56965

Fazio-Londe disease

56965 98770 98770

Progressive bulbar palsy of childhood Spinocerebellar ataxia type 16 SCA16

101107

SCA22

98812

Paroxysmal hypnogenic dyskinesia

98812

98812

Nocturnal paroxysmal dystonia Paroxysmal hypnagogic dyskinesia

98812

Paroxysmal hypnagogic dystonia

98812

Paroxysmal nocturnal dyskinesia


H syndrome H syndrome H syndrome

182050

MYH9-related disease

850

182050 182050 182050 182050

MYH9-related disease MYH9-related disease MYH9-related disease MYH9-related disease

850 850 850 1984

182050


1984

182050


1019

182050


1019

182050


807

182050


807

216866

Classic pantothenate kinase-associated neurodegeneration

216866

Classic pantothenate kinase-associated neurodegeneration

220295

Xeroderma pigmentosum-Cockayne syndrome complex

221061

Familial cerebral cavernous malformation

231568

231568

231568 Dystonia 14

101151

DYT14

98968

Central discoid corneal dystrophy Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome PHID Familial sinus histiocytosis with massive lymphadenopathy Familial Rosaï-Dorfman disease


168569 168569 168569

231568

101151

Disease to be used


247691

247691

247691

Generalized dominant dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


254712 254707 254707

157855

Deprecated entities

Familial SHML Faisalabad histiocytosis FHC May-Hegglin thrombocytopenia MHA May-Hegglin anomaly May-Hegglin syndrome Fechtner syndrome Alport syndrome with leukocyte inclusions and macrothrombocytopenia Epstein syndrome Alport syndrome with macrothrombocytopenia Sebastian syndrome Macrothrombocytopenia with leukocyte inclusions HARP syndrome

Hypoprebetalipoproteine mia-acanthocytosis157855 retinitis pigmentosapallidal degeneration syndrome Pellagra-like skin rash2837 neurological manifestations syndrome Transverse limb 2486 deficiency-hemangioma syndrome Autosomal dominant 216989 dystrophic epidermolysis bullosa, Pasini type 216989

DDEB, Pasini type

79407

Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type

79407

DDEB, Cockayne-Touraine type

3421

Cerebroretinal vasculopathy

3421

CRV

3421

Grand-Kaine-Fulling syndrome

178


247691

247691

247691

247691

247691

261483

261483

263463 263463 263463 264200

Disease to be used

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Xq27.3q28 duplication syndrome Xq27.3q28 duplication syndrome CHST3-related skeletal dysplasia CHST3-related skeletal dysplasia CHST3-related skeletal dysplasia 14q22q23 microdeletion syndrome


Deprecated entities

63261

HERNS syndrome

63261

Hereditary endotheliopathyretinopathy-nephropathystroke syndrome

71291

Hereditary vascular retinopathy

71291

HVR

71291

Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome


Disease to be used


293843 293843

3MC syndrome 3MC syndrome

2998 2998

293843

3MC syndrome

2998

293843

3MC syndrome

2998

293864

Hypoplastic pancreasintestinal atresiahypoplastic gallbladder syndrome

137862

293864

Hypoplastic pancreasintestinal atresiahypoplastic gallbladder syndrome

Duodenal and extrahepatic biliary atresia137862 hypoplastic pancreasintestinal malrotation syndrome

300751

300751

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Parkinsonism due to ATP13A2 deficiency

83618

Severe dilated cardiomyopathy with or without myopathy

3336

319646

PGM1-CDG

711

1792

Humerospinal dysostosis

319646

PGM1-CDG

711

93280

Spondyloepiphyseal dysplasia, Omani type

319646 319646

PGM1-CDG PGM1-CDG

711 711

93280

Humero-spinal dysostosis

319646

PGM1-CDG

711

2055

Growth deficiencybrachydactylydysmorphism syndrome

319646

PGM1-CDG

711

2055

Frias syndrome

319646

PGM1-CDG

711

284963

14q22q23 microdeletion syndrome Marfan syndrome type 1

99715

284963

Marfan syndrome type 1

99715

MASS syndrome Mitral valve-aortaskeleton-skin syndrome

319646 319646

PGM1-CDG PGM1-CDG

711 711

319646

PGM1-CDG

711

324737

SRD5A3-CDG

168972

324737

SRD5A3-CDG

168972

324737

SRD5A3-CDG

168972

324737

SRD5A3-CDG

139477

329931

C3 glomerulonephritis

93559

331176

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

178503

264200

293843 293843

Late-onset primary lymphedema Late-onset primary lymphedema 3MC syndrome 3MC syndrome

293843

3MC syndrome

2453

293843 293843


2506 2506

293843

3MC syndrome

2506

293843 293843


2998 2998

293843

3MC syndrome

2998

289825 289825

77242

Lymphedema tarda

77241

Lymphedema praecox

2453 2453

Malpuech syndrome 3MC3 syndrome Malpuech facial clefting syndrome Michels syndrome 3MC1 syndrome Oculopalatoskeletal syndrome Carnevale syndrome 3MC2 syndrome Carnevale-KrajewskaFischetto syndrome


Martínez-Frías syndrome

Severe dilated cardiomyopathy due to lamin A/C mutation

314632

3423

Mingarelli syndrome OSA syndrome Oculo-skeletal-abdominal syndrome Ptosis-strabismus-rectus abdominis diastasis syndrome

83618

Vasquez-Hurst-Sotos syndrome Hypogonadismgynecomastia-X-linked intellectual disability syndrome

3423

Deprecated entities

Tomé-Brunet-Fardeau syndrome Glycogen storage disease due to phosphoglucomutase deficiency GSD due to phosphoglucomutase deficiency GSD type 14 GSDXIV Glycogen storage disease type 14 Glycogen storage disease type XIV Glycogenosis due to phosphoglucomutase deficiency Glycogenosis type 14 Glycogenosis type XIV Phosphoglucomutase 1 deficiency Kahrizi syndrome Intellectual disability, Kahrizi type Intellectual disabilitycataract-colobomakyphosis syndrome Al-Gazali-Dattani syndrome C3 deposition glomerulonephritis without proliferation Dursun syndrome

179



ORPHA number

Disease to be used

331176

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

357225

Primary non-essential cutis verticis gyrata

357225


1557

357225


217315

357225


357225


Deprecated entities

Pulmonary arterial hypertension-leukopenia178503 atrial septal defect syndrome Cutis verticis gyrata1557 intellectual disability syndrome McDowall syndrome

Cutis verticis gyrataretinitis pigmentosasensorineural deafness syndrome Cutis verticis gyrataretinitis pigmentosa217315 neurosensory deafness syndrome Cutis verticis gyrataretinitis pigmentosa217315 neurosensory hearing loss syndrome Cutis verticis gyrataretinitis pigmentosa217315 sensorineural hearing loss syndrome Cutis verticis gyrata79482 thyroid aplasia-intellectual disability syndrome

357225


357225


357225


79482

Combined cervical dystonia

Fatal infantile encephalopathy293838 pulmonary hypertension syndrome

370114

370953

370953

370953

370953

370953

399805

399805

399805

Congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy due to dystroglycanopathy Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with azoospermia or oligozoospermia due to single gene mutation

Akesson syndrome


399805

399808

402041

402041

402041

402041

402041

402041

402041

402041

402041

52428

Congenital muscular dystrophy type 1C

402041

52428

CMD1C

402041

52428

MDC1C

402041

98894

Congenital muscular dystrophy type 1D

402041

98894

MDC1D

Male infertility with 217034 normal virilization due to meiosis defect

217034

Azoospermia due to maturation arrest

217034

Azoospermia due to meiosis defect

423693

423693

444490 448242 448242

Disease to be used

Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with teratozoospermia due to single gene mutation Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Double outlet right ventricle with subaortic or doubly committed ventricular septal defect Double outlet right ventricle with subaortic or doubly committed ventricular septal defect Familial chylomicronemia syndrome Autosomal recessive brachyolmia Autosomal recessive brachyolmia



Deprecated entities

Male infertility with 217034 normal virilization due to maturation arrest 352613

Male infertility due to NANOS1 mutation

93609

Autosomal recessive distal renal tubular acidosis without deafness

93609

AR dRTA without deafness

93609

AR dRTA without hearing loss

93609

Autosomal recessive distal renal tubular acidosis without hearing loss

93609

Distal renal tubular acidosis type 1c

93609

dRTA type 1c

93611

Autosomal recessive distal renal tubular acidosis with deafness

93611

AR dRTA with deafness

93611

AR dRTA with hearing loss

93611

Autosomal recessive distal RTA with deafness

93611

Autosomal recessive distal renal tubular acidosis with hearing loss

93611

Distal renal tubular acidosis type 1b

93611

dRTA type 1b

99044

Double outlet right ventricle with subaortic ventricular septal defect

99047

Double outlet right ventricle with doubly committed ventricular septal defect

411

Hyperlipoproteinemia type 1

93301 93303

Brachyolmia type 1, Hobaek type Brachyolmia type 1, Toledo type

180


457059

457240

457240

Disease to be used

Pseudohypoparathyroid ism with Albright hereditary osteodystrophy X-linked intellectual disability-short statureoverweight syndrome X-linked intellectual disability-short statureoverweight syndrome


Deprecated entities

665

Albright hereditary osteodystrophy

3059

X-linked intellectual disability, Gu type

3059

MRX35


181

For any questions or comments, please contact us: [email protected] Editor-in-chief : Ana Rath – Editor : Sonja Janmaat Technical support : Samuel Demarest, Valérie Lanneau - Photography: Alliance Maladies Rares / Karine Lhémon The correct form when quoting this document is : « List of rare diseases and synonyms listed in alphabetical order », Orphanet Report Series, Rare Diseases collection, January 2018, http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf This Orphanet Report Series is part of the joint action 677024 RD-ACTION which has received funding from the European Union’s Health Programme (2014-2020). The content of this Orphanet Report Series represents the views of the author only and is his/her sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.