List of rare diseases and synonyms - Orphanet

June 2017

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 - June 2017 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf

2

Rare diseases listed in alphabetical order ORPHA number 289157 431361 976 79154 391417 391428 391428 391457 391417

391428

391428

391457

79095 79157 79157 255182 869 2616 2671 79301 20 20 35701 939 134 6 6 67046 111 67047 67048 66634 445038

ORPHA number 352328

Disease name

1-alpha-hydroxylase deficiency 445038 2,4-dienoyl-CoA reductase deficiency 67046 2,8-dihydroxyadenine urolithiasis 2-aminoadipic 2-oxoadipic aciduria 134 2-methyl-3-hydroxybutyric aciduria 79351 2-methyl-3-hydroxybutyric aciduria, classic type 79350 2-methyl-3-hydroxybutyric aciduria, infantile type 869 2-methyl-3-hydroxybutyric aciduria, 7 neonatal type 2616 2-methyl-3-hydroxybutyryl-CoA 293843 dehydrogenase deficiency →293843 2-methyl-3-hydroxybutyryl-CoA →293843 dehydrogenase deficiency, classic →293843 type 67046 2-methyl-3-hydroxybutyryl-CoA 2118 dehydrogenase deficiency, infantile type 2118 2-methyl-3-hydroxybutyryl-CoA 22 dehydrogenase deficiency, neonatal type 2118 2-methylacyl-CoA racemase 869 deficiency 88637 2-methylbutyric aciduria 2-methylbutyryl-CoA 250977 dehydrogenase deficiency 217064 2-oxoglutarate complex deficiency 217064 2A syndrome 33572 3-M syndrome 3-Phosphoglycerate dehydrogenase 99135 deficiency, neonatal form 3-beta-hydroxy-delta-5-C27-steroid 13 oxidoreductase deficiency 3-hydroxy-3-methylglutaric aciduria 818 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 168588 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 320 3-hydroxyisobutyric aciduria 3-ketothiolase deficiency 752 3-methylcrotonyl-CoA carboxylase 752 deficiency 752 3-methylcrotonylglycinuria 99763 3-methylglutaconic aciduria type 1 99763 3-methylglutaconic aciduria type 2 881 3-methylglutaconic aciduria type 3 881 3-methylglutaconic aciduria type 4 1772 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 7 1772

Disease name

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome 3-methylglutaconic aciduriacataract-neurologic involvementneutropenia syndrome 3-methylglutaconyl-CoA hydratase deficiency 3-oxothiolase deficiency 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 3-phosphoserine phosphatase deficiency 3A syndrome 3C syndrome 3M syndrome 3MC syndrome 3MC1 syndrome 3MC2 syndrome 3MC3 syndrome 3MG-CoA hydratase deficiency 4-HPPD deficiency 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvic acid dioxygenase deficiency 4A syndrome 4H syndrome 5-amino-4-imidazole carboxamide ribosiduria 5-fluorouracil intoxication 5-fluorouracil poisoning 5-oxoprolinase deficiency 6-phosphogluconate dehydrogenase deficiency 6-pyruvoyl-tetrahydropterin synthase deficiency 7-dehydrocholesterol reductase deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 1 11-beta-hydroxysteroid dehydrogenase deficiency type 2 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 18-hydroxylase deficiency 18-oxidase deficiency 45,X syndrome 45,X/46,XX syndrome 45,X/46,XY MGD 45,X/46,XY mixed gonadal dysgenesis

ORPHA number 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 251510 242 96266

96266

96266

Disease name

45,X0/46,XY MGD 45,X0/46,XY mixed gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX disorder of sex developmentanorectal anomalies syndrome 46,XX disorder of sex developmentskeletal 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-alpha-reductase 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 46,XY PGD 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

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


3

ORPHA number 752

753

755

325448

96265

96265

96265

96265

90796

755

325448

443087

168558

168563 325345 325345 251510 251510 242 3375 8 9 96263 10 99329 11 96264 261534 99330

Disease name

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 developmentadrenal 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 46,XY partial testicular dysgenesis 46,XY pure gonadal dysgenesis 47,XXX syndrome 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

ORPHA number 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 329802 86841 228384 436003 314655 228415 96125 251046 96125 75857 171829 251056 314034 96121 251061

Disease name

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 4p- syndrome 4p16.3 microduplication syndrome 4q21 microdeletion syndrome 5p13 microduplication syndrome 5q- syndrome 5q14.3 microdeletion syndrome 5q23 microdeletion syndrome 5q31.3 microdeletion syndrome 5q35 microduplication syndrome 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

ORPHA number 459074 96092 168953 251066 251076 251071 228399 2496 284160 178303 261112 261112 324313 96147 96147 352665 401923 284169 276413 276422 1307 52022 300305 444002 444002 313884 280325 94063 289513 412035 1590 261120 261229 261144 →3157 264200 264200 401935 314585 238446 238446 261183 238446 238446 199318

Disease name

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 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 12p13.33 microdeletion syndrome 12q14 microdeletion syndrome 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 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



4

ORPHA number 261190 94065 1596 363992 261211 261211 261204 485405 261236 261243 96078 352629 261250 819 1713 477817 217385 217385 97685 139474 261265 261272 363958 217340 261279 261279 1598 1600 254346 357001 447980 217346 313781 261295 313781 444051 363659 261311 574 574 261323 261323 268261

Disease name

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 16p13.3 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 17q11 microdeletion syndrome 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- 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

ORPHA number 268261 567 567 1727 48652 85445 869 35708 91385 100055 100055 1414 284460 93560 238269 439232 915 1974 3163 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

Disease name

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 Aarskog-like syndrome Aarskog-Ose-Pande syndrome 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

ORPHA number 69739 2310 99112 1658 1658 99112 101206

99048 980 99114 99114 99114 1493

85201

3016 2951 988 3328 99901 42 26792 945 67043 79468 300504 90301 926 2508 561 180182 99061 141096 674 95462 210122 48818 464458

Disease name

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 Absence of the superior vena cava Absence of the SVC Absent corpus callosum-cataractimmunodeficiency syndrome Absent patellae-scrotal hypoplasiarenal anomalies-facial dysmorphismintellectual disability syndrome Absent radius-anogenital anomalies syndrome Absent thumb-short statureimmunodeficiency syndrome Absent tibia-polydactyly syndrome Absent tibia-polydactyly-arachnoid cyst syndrome 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 ACDMPV Aceruloplasminemia Acetaminophen poisoning



5

ORPHA number 99736 99736 2008 930 869 →869 929 294983 295103 295101 931 931 49382 932 93299 93298 93296 93299 93296 93298 15 935 935 935 49382 355 333 35121 424046 40366 79099 2561 51890 43115 252175 252175 252175 65759 65798 306431 90065 91385 100056 100055 91385

Disease name

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 Acheiropodia Acheiropody 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 Acid phosphatase deficiency Acinar cell carcinoma of pancreas Acitretin/etretinate embryopathy Ackerman dermatitis 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

ORPHA number 100056 100055 91385 91385 95626 95626 454700 228285 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

Disease name

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 Acquired cutis laxa 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 chainassociated 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

ORPHA number 93585 93585 99147 99147 263534 97360 158673 263534 90396 263534 281127 281127 945 978 958 959 36 63446 2008 221054 221054 65759 65798 87 794 710 63440 949 955 163931 37 978 950 280651 950 2956 1786 246 64542 1787 1788 952 1784

Disease name

Acquired thrombotic thrombocytopenic purpura Acquired TTP Acquired von Willebrand disease Acquired von Willebrand syndrome Acral deciduous skin 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 Acrania 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 suppurativa of Hallopeau Acrodermatitis enteropathica 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



6

ORPHA number 2211 2211 2500 2500 38 166113 166113 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

Disease name

Acrofrontofacionasal dysostosis type 2 Acrofrontofacionasal syndrome type 2 Acrogeria Acrogeria, Gottron type Acrokeratoelastoidosis of Costa Acrokeratosis of Bazex Acrokeratosis paraneoplastica 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

ORPHA number 397596 101089 73423 95409 95409 95409 99870 284460 86849 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

Disease name

Activated PI3K-delta syndrome Activation-induced cytidine deaminase deficiency Acute ackee fruit intoxication Acute adrenal failure Acute adrenal insufficiency Acute adrenocortical insufficiency Acute and disseminated Langerhans cell histiocytosis Acute annular outer retinopathy Acute basophilic leukemia 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 mtDNA-encoded 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

ORPHA number 178320 518 99887 329469 518 514 514 98917 98918 98917 98917 228157 228157 520 98833 98834 98834 98833 86843 86843 102379

164726

102381 318 518 98831

98829

319480 402020 98832 86845 402026

Disease name

Acute lung injury Acute megakaryoblastic leukemia 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 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 Acute myeloid leukemia with multilineage dysplasia Acute myeloid leukemia with NPM1 somatic mutations



7

ORPHA number 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

231466 231466 231466 139417

Disease name

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 Guillain-Barré 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 Acute sensory ataxic GBS Acute sensory ataxic Guillain-Barré syndrome Acute sensory ataxic neuropathy Acute transverse myelitis

ORPHA number 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 976 213772 99976 424991

Disease name

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 Adenine phosphoribosyltransferase deficiency Adenocarcinoma of cervix uteri Adenocarcinoma of esophagus Adenocarcinoma of gallbladder and EBT

ORPHA number 424991 424943 424943 213504 363478 398053 104075 104075 424016 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 329211 404448 1544 306588 36355 2924 101046 254892 95409

Disease name

Adenocarcinoma of gallbladder and extrahepatic biliary tract Adenocarcinoma of liver and IBT Adenocarcinoma of liver and intrahepatic biliary tract Adenocarcinoma of ovary Adenocarcinoma of paratestis Adenocarcinoma of penis Adenocarcinoma of small bowel Adenocarcinoma of small instestine Adenocarcinoma of the anal canal Adenohypophysitis Adenoid basal carcinoma of the cervix uteri Adenoid cystic carcinoma of the cervix uteri Adenoid cystic carcinoma of the corpus uteri Adenoma of 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 1related distal myopathy Adhesive arachnoiditis ADHR Adie syndrome Adiposalgia Adipose tissue rheumatism Adiposis dolorosa ADK hypermethioninemia ADLD ADLTE ADMERF ADNFLE ADNIV ADNP-related multiple congenital anomalies-intellectual disabilityautism spectrum disorder Adolescent benign focal crisis ADOS ADP platelet receptor P2Y12 defect ADPCLD ADPEAF adPEO Adrenal crisis



8

ORPHA number 869 1501 231625 95409 99889 139399 977 228169 46 482601 70578 70578 93605 157846 874 221 2666 309169 210159 874 210159 247676 2688 178487 178487 178487 178487 206448 79262 79262 247676 206583 902 99874 98872 247676 773 978 86875 391490 79280 391490 99027

Disease name

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 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 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

ORPHA number 99027 284289 255132 420492

329336 247585 247573 247573 329336 411641 329478 199351 99000

99000

99000 79257 306431

313808

329314

329314 391490 171442 276608 206572 35689 35689 209335 829 247585 247585 99000

Disease name

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 I Adult-onset CPEO with mitochondrial myopathy Adult-onset cystinosis Adult-onset distal myopathy due to VCP mutation Adult-onset dystonia-parkinsonism 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 Adult-onset leukoencephalopathy with axonal spheroids and 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 proximal spinal muscular atrophy, autosomal dominant Adult-onset Still disease Adult-onset type 2 citrullinemia Adult-onset type II citrullinemia Adult-onset vitelliform macular dystrophy

ORPHA number 3086 682 1071 281139 163703 363549 178345 37 220460 313772 93562 243367 1827 398147 139507 101334 3385 33110

83617 388 35704 85448 180142 99114 99114 99114 293173 873 86873 86873 98850 989 990 824 100070 100070 442582 2131 412069 59 50812 79443 79445 2134 93581

Disease name

ADVIRC Adynamia episodica hereditaria AEC syndrome AEI AERRPS AESD AEXS AEZ AFAP AFG3L2-related spastic ataxianeuropathy 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 AGel amyloidosis Agenesis and aplasia of uterine body Agenesis of the superior caval vein Agenesis of the superior vena cava Agenesis of the SVC AGEP Aggressive fibromatosis Aggressive NK-cell leukemia Aggressive NK-cell lymphoma Aggressive systemic mastocytosis Aglossia-adactylia syndrome Agnathia-holoprosencephaly-situs inversus syndrome Agnogenic myeloid metaplasia Agramatic variant of PPA Agramatic variant of primary progressive aphasia AH amyloidosis AHC AHDC1-related intellectual disability-obstructive sleep apneamild dysmorphism syndrome AHDS Ahn-Lerman-Sagie syndrome AHO-PHP syndrome Ia AHO-PPHP syndrome aHUS aHUS with anti-factor H antibodies



9

ORPHA number 93578 93575 357008 93579 93580 93576 217023 250977 50 51 101089 98916 90081 178333 363549 86886 103919 280302 280315 75564 33355 38 →357225 79085 79085 85443 2232 2879 →3157 2725 2865 2153 2725 2773 →324737 404454 100924 52 261600 261619 261629 261600 261600 52 261619

Disease name

ORPHA number

Disease name

aHUS with B factor anomaly Alagille-Watson syndrome due to a 261629 NOTCH2 point mutation aHUS with C3 anomaly Alagille-Watson syndrome due to aHUS with DGKE deficiency 261600 monosomy 20p12 aHUS with H factor anomaly 178333 Åland Islands eye disease aHUS with I factor anomaly Alar cartilages hypoplasiaaHUS with MCP/CD46 anomaly 2007 coloboma-telecanthus syndrome aHUS with thrombomodulin 53 Albers-Schönberg osteopetrosis anomaly Albinism-black lock-cell migration AICA-ribosiduria disorder of the neurocytes of the Aicardi syndrome →897 gut-sensorineural deafness Aicardi-Goutières syndrome syndrome AID deficiency 998 Albinism-deafness syndrome AIDP →457059 Albright hereditary osteodystrophy AIDS wasting syndrome Albright hereditary osteodystrophy 1001 AIED type 3 AIEF Albright hereditary osteodystrophy1001 AILT like syndrome AIP Albright hereditary osteodystrophy79443 AIP type 1 PHP syndrome Ia AIP type 2 Albright hereditary osteodystrophy79445 AISA PPHP syndrome AK2 deficiency 98841 ALCL AKE 60039 Alcock syndrome Akesson syndrome 1915 Alcohol-related birth defects AKT2-related familial partial Alcohol-related 1915 lipodystrophy neurodevelopmental disorder AKT2-related FPLD 36899 Alcohol-responsive dystonia AL amyloidosis 43 ALD Al Awadi-Farag-Teebi syndrome 324977 ALDD syndrome Al Awadi-Raas-Rothschild syndrome ALDH18A1-related De Barsy 35664 Al Frayh-Facharzt-Haque syndrome syndrome Al Gazali-Al Talabani syndrome 99763 Aldosterone synthase deficiency Al Gazali-Aziz-Salem syndrome Aldosterone synthase deficiency 99764 Al Gazali-Donnai-Muller syndrome unrelated to CYP11B2 Al Gazali-Lytle syndrome Aldosterone synthase deficiency 99764 unrelated to the aldosterone Al Gazali-Nair syndrome synthase gene Al-Gazali-Dattani syndrome Aldosterone-producing adenoma Alacrimia-choreoathetosis-liver 369929 with seizures and neurological dysfunction syndrome abnormalities ALAD porphyria Aldosterone-secreting adenoma Alagille syndrome 369929 with seizures and neurological Alagille syndrome due to 20p12 abnormalities microdeletion 85332 Aldred syndrome Alagille syndrome due to a JAG1 439224 ALECT2 amyloidosis point mutation Alagille syndrome due to a NOTCH2 158799 Aleukemic mast cell leukemia 58 Alexander disease point mutation 363717 Alexander disease type I Alagille syndrome due to 363722 Alexander disease type II del(20)(p12) 261112 Alfi syndrome Alagille syndrome due to 79327 monosomy 20p12 ALG1-CDG 79326 Alagille-Watson syndrome ALG2-CDG 79321 Alagille-Watson syndrome due to a ALG3-CDG JAG1 point mutation 79320 ALG6-CDG

ORPHA number 79325 79328 280071 79324 324422 99995 300895 300895 364043 364043 300903 300903 300903 300895 364043 56 59 1164 1164 869 69063 93925 1006 700 701 2316 1005 202 2574 1008 →3464 2850

1014

157954 726 726 726 734 734 134 721

Disease name

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 Allergic bronchopulmonary aspergillosis Allgrove syndrome Alloimmune neonatal renal disease Alobar holoprosencephaly Alopecia antibody deficiency Alopecia totalis Alopecia universalis 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 Alpers progressive sclerosing poliodystrophy Alpers syndrome Alpers-Huttenlocher syndrome Alpha delta granule deficiency Alpha dense granule deficiency Alpha methylacetoacetic aciduria Alpha storage pool deficiency



10

ORPHA number 98791 98791 365 308552 420429 60 79154 399058 324 100025 100025 31 349 579 61 309288 309282 134 79095 3137 79279 79280 79281 62 846 163596 93616 163596 98791

231401 847 63 63 →182050

→182050

Disease name

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 late-onset distal myopathy Alpha-galactosidase A deficiency Alpha-HCD Alpha-heavy chain disease Alpha-ketoglutarate dehydrogenase deficiency Alpha-L-fucosidase deficiency Alpha-L-iduronidase deficiency Alpha-mannosidosis Alpha-mannosidosis, adult form Alpha-mannosidosis, infantile form Alpha-methyl-acetoacetyl-CoA thiolase deficiency Alpha-methyl-acyl-CoA racemase deficiency Alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase deficiency type 1 Alpha-N-acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-sarcoglycanopathy Alpha-thalassemia Alpha-thalassemia hydrops fetalis Alpha-thalassemia intermedia Alpha-thalassemia major Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Alpha-thalassemia-myelodysplastic syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Alport deafness-nephropathy Alport syndrome Alport syndrome with leukocyte inclusions and macrothrombocytopenia Alport syndrome with macrothrombocytopenia

ORPHA number 86818 3261 436159 268114 436159 268114 436159 275517 803 357043 86815 313808 64 99971 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 314419 1946 88661

Disease name

ORPHA number 100031 100033

Disease name

Alport syndrome-intellectual Amelogenesis imperfecta type 1 disability-midface hypoplasiaAmelogenesis imperfecta type 2 elliptocytosis syndrome 100032 Amelogenesis imperfecta type 3 ALPS 100034 Amelogenesis imperfecta type 4 ALPS due to CTLA4 haploinsuffiency Amelogenesis imperfecta-gingival 171836 ALPS type 4 hyperplasia syndrome ALPS type 5 Amelogenesis imperfecta1031 ALPS type IV nephrocalcinosis syndrome ALPS type V Ameloonychohypohidrotic 1028 syndrome ALPS with recurrent viral infections 83595 American mountain fever ALS 3386 American trypanosomiasis ALS4 2116 Aminoaciduria, Hartnup type ALSG 141 Aminoacylase 2 deficiency ALSP Aminopterin embryopathy Alström syndrome 1908 syndrome ALT Alternating hemiplegia of childhood 221120 Aminopterin syndrome-like sine aminopterin Alveolar capillary dysplasia with Aminopterin/methotrexate misalignment of pulmonary veins 1908 embryofetopathy Alveolar capillary dysplasia with misalignment of pulmonary vessels →33364 Amish brittle hair syndrome 171714 Amish infantile epilepsy syndrome Alveolar cleft lip and palate 99742 Amish lethal microcephaly Alveolar echinococcosis 98902 Amish nemaline myopathy Alveolar rhabdomyosarcoma 518 AMKL Alveolar soft-part sarcoma AML and myelodysplastic Alveolar soft-tissue sarcoma Alveolar synechia-ankyloblepharon- 102379 syndromes related to alkylating agent ectodermal dysplasia syndrome Alves-dos Santos-Castelo syndrome 164726 AML and myelodysplastic syndromes related to radiation ALX1-related frontonasal dysplasia AML and myelodysplastic ALX3-related frontonasal dysplasia 102381 syndromes related to topoisomerase ALX4-related FNDAG type 2 inhibitor Alymphoid cystic thymic dysgenesis 98832 AML M0 ALys amyloidosis 98833 AML M1 AMACR deficiency 98834 AML M2 AMAN 520 AML M3 Amaurosis congenita of Leber 517 AML M4 Amaurosis-hypertrichosis syndrome 514 AML M5 Ambiguous genitalia-disordered 318 AML M6 steroidogenesis Antley-Bixler-like 518 AML M7 syndrome 98831 AML with 11q23 abnormalities Ambras syndrome AML with abnormal bone marrow Amelia of lower limb 98829 eosinophils inv(16)(p13q22) or Amelia of lower limb, bilateral t(16;16)(p13;q22) Amelia of lower limb, unilateral 319480 AML with CEBPA somatic mutations Amelia of upper limb AML with inv3(p21;q26.2) or 402020 Amelia of upper limb, bilateral t(3;3)(p21;q26.2) Amelia of upper limb, unilateral 86845 AML with multilineage dysplasia Ameloblastic carcinoma 402026 AML with NPM1 somatic mutations Ameloblastoma 402014 AML with t(6;9)(p23;q34) Ameloblastoma of jaw AML with t(8;16)(p11;p13) 370026 Amelocerebrohypohidrotic translocation syndrome AML with t(8;21)(q22;q22) 102724 Amelogenesis imperfecta translocation



11

ORPHA number 402017 520 86818 86818 517 251663 67 68 45 1035 66529 300557 300557 98917 366 49804 319635 319635 85450 367 803 357043 94091 90020

90020

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

Disease name

AML with t(9;11)(p22;q23) AML with t(15;17)(q22;q12);(PML/RARalpha) and variants AMME complex AMME syndrome AMMoL aMOA Amoebiasis due to Entamoeba histolytica Amoebiasis due to free-living amoebae AMP deaminase deficiency Ampola syndrome Ampulla cardiomyopathy Ampullary carcinoma Ampulloma AMSAN Amylo-1,6-glucosidase deficiency Amyloid lichen Amyloidosis cutis dyschromia Amyloidosis cutis dyschromica Amyloidosis, Ostertag type Amylopectinosis 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

ORPHA number 37553 37553 71 324 99916 329813 157954 263524 1044 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

Disease name

Andersen syndrome Andersen-Tawil syndrome Anderson disease Anderson-Fabry disease Androblastoma Androgenetic/biparental mosaicism ANE syndrome ANEC Anemia due to adenosine triphosphatase deficiency Aneurysm of sinus of Valsalva Aneurysm or dilatation of ascending aorta Aneurysm-osteoarthritis syndrome Aneurysmal bone cyst Aneurysmal telangiectasia Angel-shaped phalango-epiphyseal 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

ORPHA number 69088

→1071 1069 1065 1068 1067 1064 1070 86873 1072 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

Disease name

Anhidrotic ectodermal dysplasiaimmunodeficiency-osteopetrosislymphedema syndrome Anhidrotic ectodermic dysplasiacleft lip/palate syndrome Aniridia-absent patella syndrome 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 Ankyloblepharon filiforme adnatum-cleft palate syndrome Ankyloblepharon filiformeimperforate 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



12

ORPHA number 1101

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

178148 291 51890 1931 98961 98960 98961 98960 95512 435372 90079 36412 375 375 2194 206569 81 639 454710 206569 97564 2821 3006 81 83

Disease name

Anophthalmia-megalocorneacardiopathy-skeletal anomalies syndrome 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 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-Jo1 syndrome Anti-MAG neuropathy Anti-p200 pemphigoid Anti-SRP myopathy Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis Antinolo-Nieto-Borrego syndrome Antiquitin deficiency Antisynthetase syndrome Antley-Bixler syndrome

ORPHA number →95699 →95699

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

1110 2299 99079 →91387 95448 101043 99071 99070 3400 99086 974 829 280763 369929 747 206583 247806 247806 247806 247806 397596 3453 87 162521

1112

Disease name

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 arch syndrome 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 Apert syndrome Apertura pyriformis with holoprosencephaly Aphalangy-hemivertebraeurogenital-intestinal dysgenesis syndrome

ORPHA number 1113 49 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 3143 227982 227990 3453 3143 227982 227990 101206 99048 402041

Disease name

Aphalangy-syndactyly-microcephaly syndrome Aphallia Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Aphonia-deafness-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 APS2 APS3 APS4 APS type 1 APS type 2 APS type 3 APS type 4 APV/ADA, Fallot type APV/PDA, non-Fallot type AR dRTA



13

ORPHA Disease name number →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 98856 101101 101102 443950 169186 248 88616 731 447760 1129

1130 2356 137817 324442 1915 2697 88644 139485 90349 357074 357074 357064 357058 357064 324442 101097 466775 1133 101096 →702 75377 319223 319223 90 90 23 247525 247525 23 23

AR-CMT2, Ouvrier type AR-CMT2B1 AR-CMT2B2 AR-CMT2C AR-CMT2T AR-CNM AR-HED AR-NSID AR-PKD AR-SPG9B Arachnodactyly-abnormal ossification-intellectual disability syndrome Arachnodactyly-intellectual disability-dysmorphism syndrome Arachnoid cyst Arachnoiditis ARAN-NM ARBD ARC syndrome ARCA1 ARCA2 ARCL1 ARCL2, classic type ARCL2, Debré type ARCL2, progeroid type ARCL2A ARCL2B ARCMT2-NM ARCMT2K ARCMT2X AREDYLD syndrome Aregenerative anemia Arena syndrome Areolar atrophy of the macula Argentine hemorrhagic fever Argentinian hemorrhagic fever Arginase deficiency Argininemia Argininosuccinase deficiency Argininosuccinate synthase deficiency Argininosuccinate synthetase deficiency Argininosuccinatelyase deficiency Argininosuccinic acid lyase deficiency

ORPHA number 247525 247525 23 60014 289176 79235 2318 950 85276 1915 167635 268882 1136 268882 1136 91 178345 35708 254886 99916 1134 1135 260305 98 314603 583 357107 357107 1682 357107 357107 357107 357107 3342 357107 52 261619 261629 261600 29207 955 1155 994

Disease name

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 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 Arterial thoracic outlet syndrome Arterial tortuosity syndrome Arterial TOS 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 due to muscular dystrophy Arthrogryposis multiplex congenitapulmonary hypoplasia syndrome

ORPHA number 1150

1154

3200 1485 1144 1149 2697 65720 2848 1187 512 309271 309263 309256 583 276212 276223 81 23 231466 583 2302 2302 1253 447997 1478 352490 99104 99106 99103 99105 54251 97337 3314 2380 97336 97332 2054

Disease name

Arthrogryposis multiplex congenitawhistling face syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Arthrogryposis-ectodermal dysplasia-other anomalies syndrome Arthrogryposis-hyperkeratosis syndrome, lethal form Arthrogryposis-like hand anomalysensorineural deafness syndrome Arthrogryposis-like 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 ASD ASD due to AUTS2 deficiency ASD, coronary sinus type 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



14

ORPHA number 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 1180

370022 1168 64753 459033 2585 1184 1178 100 370109 647 251347 1183 2953 3469 1190

Disease name

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-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 Ataxo-opso-myoclonus syndrome ATCS Atelencephaly Atelosteogenesis type 1

ORPHA number 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 30391 1201 105 1344 99107 1478 99104 99106 99103 99105 1479 1344 844 86819 392 1350

Disease name

Atelosteogenesis type 2 Atelosteogenesis type 3 Atelosteogenesis type I Atelosteogenesis type II Atelosteogenesis type III Athabascan brainstem dysgenesis syndrome Athabaskan brainstem dysgenesis syndrome Atherosclerosis-deafness-diabetesepilepsy-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 Atresia of bile ducts Atresia of small intestine Atresia of urethra 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 defect-atrioventricular conduction defects syndrome Atrial standstill Atrial tachyarrhythmia with short PR interval Atrichia with papular lesions Atriodigital dysplasia type 1 Atriodigital dysplasia type 2


1352 86813 649 254449 254449 79100 99966 71289 3342 86818 352723 220460 220460 220460 85451 85451 85451 85447 85447 330001 330001 199627 352723 251902 98824 1456 251902 314466 314721 398147 309252 289863 98961 238523 2134

93581

93578 93575 357008

Disease name

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 Atypical chronic myeloid leukemia Atypical coarctation of aorta Atypical CPP Atypical Demons-Meigs syndrome 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



15

ORPHA number 93579 93580 93576

217023 2134 93581 93578 93575 357008 93579 93580 93576 217023 238523 391411 86797 99971 99971 314466 2578 289863 289863 261501 261501 261501 216873 251902 79474 99750 99750 3095 3095 99966 90393 79474 16 453504 166415 1074

Disease name

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 Atypical MRKH syndrome Atypical NKA 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

ORPHA number 1488 →794 77300 137888 114 →794 1995 352490 370943

308410

137911 324636 85138 85138 420789

391487 37042 103916 103917 1959 90033

444463

2137 36913 3453

444092 3261

436159

268114

Disease name

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 disorder-epilepsyarthrogryposis syndrome Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Autism-facial port-wine stain syndrome Autoerythrocyte sensitization syndrome Autoimmune Addison's disease Autoimmune adrenalitis Autoimmune encephalopathy with parasomnia and obstructive 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 type 4

ORPHA number 436159 268114 436159

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

3453

3453 3143 227982 227990 747 93585

3143

324977

324530

Disease name

Autoimmune lymphoproliferative syndrome type 5 Autoimmune lymphoproliferative syndrome type IV Autoimmune lymphoproliferative syndrome type V 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 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



16

ORPHA number 210115

329173 33110 88918 1810 314399 314399 1216 314652 93304 169189

314404

324611

397735

466768

447964

435819

435387

401964

99946 99947 99936 99937 99938

Disease name

Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autosomal agammaglobulinemia 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 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

ORPHA number 99939 99940 99941 99942 99943 99944 99945 228179 228174 284232 329258 397735 447964 466768 98975 363447

363454

209341

79344

→2526

1455 447753 447757 1216 98975 86814 90348

Disease name

ORPHA number

Disease name

Autosomal dominant CharcotAutosomal dominant cystoid 75381 Marie-Tooth disease type 2E macular edema Autosomal dominant CharcotAutosomal dominant deafness79499 Marie-Tooth disease type 2F onychodystrophy syndrome Autosomal dominant CharcotAutosomal dominant diffuse 2337 Marie-Tooth disease type 2G palmoplantar keratoderma, Norrbotten type Autosomal dominant CharcotMarie-Tooth disease type 2I Autosomal dominant distal axonal 476093 motor neuropathy-myofibrillar Autosomal dominant Charcotmyopathy syndrome Marie-Tooth disease type 2J Autosomal dominant distal juvenile Autosomal dominant Charcot139518 spinal muscular atrophy type 1 Marie-Tooth disease type 2K Autosomal dominant distal renal Autosomal dominant Charcot93608 tubular acidosis Marie-Tooth disease type 2L Autosomal dominant dopaAutosomal dominant Charcot98808 responsive dystonia Marie-Tooth disease type 2M Autosomal dominant dystrophic Autosomal dominant Charcot→231568 epidermolysis bullosa, CockayneMarie-Tooth disease type 2N Touraine type Autosomal dominant CharcotAutosomal dominant dystrophic Marie-Tooth disease type 2O 231568 epidermolysis bullosa, Pasini and Autosomal dominant CharcotCockayne-Touraine types Marie-Tooth disease type 2Q Autosomal dominant dystrophic Autosomal dominant Charcot→231568 epidermolysis bullosa, Pasini type Marie-Tooth disease type 2U Autosomal dominant ectodermal Autosomal dominant Charcot300576 dysplasia-cancer predisposition Marie-Tooth disease type 2V syndrome Autosomal dominant CharcotAutosomal dominant EmeryMarie-Tooth disease type 2Z 98853 Dreifuss muscular dystrophy Autosomal dominant CHED Autosomal dominant epilepsy with Autosomal dominant childhood101046 auditory features onset proximal spinal muscular Autosomal dominant familial atrophy 73229 hematuria-retinal arteriolar Autosomal dominant childhoodtortuosity-contractures syndrome onset proximal spinal muscular Autosomal dominant familial atrophy with contractures 100988 spastic paraplegia type 3 Autosomal dominant childhoodAutosomal dominant focal dystonia, onset proximal spinal muscular 329466 DYT25 atrophy without contractures Autosomal dominant focal nonAutosomal dominant 402003 epidermolytic palmoplantar chondrodysplasia punctata keratoderma with plantar blistering Autosomal dominant Autosomal dominant gingival chorioretinopathy-microcephaly 2024 fibromatosis syndrome Autosomal dominant gingival Autosomal dominant coarctation of 2024 hyperplasia aorta Autosomal dominant hereditary Autosomal dominant complex 139491 hemochromatosis spastic paraplegia type 9A Autosomal dominant hereditary Autosomal dominant complex 401964 motor and sensory neuropathy type spastic paraplegia type 9B 2 with giant axons Autosomal dominant congenital 2314 Autosomal dominant HIES benign spinal muscular atrophy Autosomal dominant hyper-IgE Autosomal dominant congenital 2314 syndrome hereditary endothelial dystrophy Autosomal dominant Autosomal dominant cortical 2314 hyperimmunoglobulin E syndrome myoclonus and epilepsy Autosomal dominant cutis laxa



17

ORPHA number 276580

276575

276580

276575 428 1810 89937 89937

457193

100043 100044 100045 100046 93114 352670

324585

90635

90635

90635

90635

93325 2334 293936

503

Disease name

Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hypocalcemia Autosomal dominant hypohidrotic ectodermal dysplasia 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 Kenny-Caffey syndrome Autosomal dominant keratitis Autosomal dominant keratoconus with early-onset anterior polar cataracts Autosomal dominant Larsen syndrome

ORPHA number 411602 67042 101046

313808

266 264 265 34516 34517 55595 55596 238755 140957

88950

34149

88949

319581

319589

319581

319589

2514 457050 319581

Disease name

Autosomal dominant late-onset Parkinson disease Autosomal dominant late-onset retinal degeneration Autosomal dominant lateral temporal lobe epilepsy Autosomal dominant leukoencephalopathy with 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 with hyperuricemia Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Autosomal dominant medullary cystic kidney disease without hyperuricemia 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 microcephaly Autosomal dominant mitochondrial myopathy with exercise intolerance Autosomal dominant MSMD due to partial IFNgammaR1 deficiency

ORPHA number 319589

319581

319589

65743 99846

440354

79153 329211 98784 178469

90635

90635

90635

90635 93328 306588 306588 306588 67036 →1215 250932 1215 67036 98673 98673

Disease name

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 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



18


1010

1010

88924

2924 1300

476119

34528 2964 254892 88659 314889 171871 209867 3107 247511 247511 98808 486 140481 251282 1182 100984 100985

Disease name

Autosomal dominant osteopetrosis type 1 Autosomal dominant osteosclerosis, Stanescu type Autosomal dominant osteosclerosis, Worth type Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia Autosomal dominant palmoplantar keratoderma and congenital alopecia 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 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 98757

466806

3357

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 striatonigral degeneration Autosomal dominant thrombocytopenia with platelet secretion defect Autosomal dominant trichoodontoonychodysplasiasyndactyly 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

443950

90119

98856 101102 101101 101097 324442 139455 448242 →3460 169186 453521 352641 412057 88644 139485 352641 95433 352403

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-blindness-deafness syndrome Autosomal recessive cerebellar ataxia-cognitive defect syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency



19

ORPHA number 404493

284282

284271

363429

95434

1170

363969 466775

466775

324442

98856 101097 90118 90119 293603 2518

447760

363432

363432

324262

324262

293603

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 Charcot-MarieTooth disease type 2 due to SPG11 mutation Autosomal recessive Charcot-MarieTooth disease type 2 with neuromyotonia Autosomal recessive Charcot-MarieTooth disease type 2B1 Autosomal recessive Charcot-MarieTooth disease with hoarseness Autosomal recessive Charcot-MarieTooth disease, Ouvrier type Autosomal recessive Charcot-MarieTooth 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 Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital hereditary endothelial dystrophy

ORPHA number 99951 90349 357074 357074 357064 357058 357064 90349 90349 79500 2776 402041 →402041 →402041 →402041 →402041 402041 →402041 98920 139552 139547 206580 314485 101150

79408

89842

89842

Disease name

Autosomal recessive congenital hypomyelinating neuropathy Autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2, Debré type Autosomal recessive cutis laxa type 2, progeroid type Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2B Autosomal recessive cutis laxa with severe systemic involvement Autosomal recessive cutis laxa, pulmonary emphysema type Autosomal recessive deafnessonychodystrophy syndrome Autosomal recessive distal osteolysis syndrome Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis with deafness Autosomal recessive distal renal tubular acidosis with hearing loss Autosomal recessive distal renal tubular acidosis without deafness Autosomal recessive distal renal tubular acidosis without hearing loss Autosomal recessive distal RTA Autosomal recessive distal RTA with deafness Autosomal recessive distal spinal muscular atrophy type 1 Autosomal recessive distal spinal muscular atrophy type 2 Autosomal recessive distal spinal muscular atrophy type 3 Autosomal recessive distal spinal muscular atrophy type 4 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

ORPHA number 79408

98855 289586 1974 329329 331226

79644

79643

79644

79643

248 289176 300547 93591 93591 352530 217055 254334 369867 435998 210110 90636 98676 90636 93324

Disease name

Autosomal recessive dystrophic epidermolysis bullosa, HallopeauSiemens type Autosomal recessive Emery-Dreifuss 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 Autosomal recessive intermediate Charcot-Marie-Tooth disease type 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



20

ORPHA number 1842

33108

314572

363543

352479

254361

267 268 353 62 119 219 34514 1878 34515 140922 86812 206549 206554 206559 206564 280333 254361 363543 369840

Disease name

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 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

ORPHA number 363623 352479 466801 476084 424261 480682

476084

206580 238505 667

477857

319569

319574

319569

319574

175 621

477857

319569 319574

319569

Disease name

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 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

ORPHA number 319574

93307 2990 424261

424261 319332 319332 280654 2990 88616 90636 90636 93329 67047 67047 227976

178389

178389

1366

1366

731 1234

88628

477857

437552

Disease name

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 non-syndromic intellectual disability Autosomal recessive non-syndromic neurosensory deafness type DFNB Autosomal recessive non-syndromic sensorineural deafness type DFNB Autosomal recessive omodysplasia Autosomal recessive optic atrophy plus syndrome Autosomal recessive optic atrophy type 3 Autosomal recessive optic atrophy, OPA7 type Autosomal recessive osteoclastpoor osteopetrosis with 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



21

ORPHA number 437552

2512 254886 93607 171876 1507

247378

247378

247378

247378 101150 970 70594

420702

420699

331176

423384

260305 98 397946 314603 254343 313772 98

Disease name

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 Autosomal recessive severe congenital neutropenia due to 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

ORPHA number 314603 254343 100986 2822 100995 100996 209951 101000 101001 101003 101004 101005 101006 101007 101008 171622 171629 139480 320370 320401 320396 320391 306511 320385 319199 320380 320375 320411

Disease name

Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic ataxiaoptic 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 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

ORPHA number 431329 397946 401795 401800 401780 401785 401805 401810 320396 401815 401820 401825 401830 401835 401840 468661 459056 466722 101005

98920

1170 284332 284324 139485 284289 284271 284282

Disease name

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 Autosomal recessive spastic paraplegia type 75 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 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



22

ORPHA number 324262 352403 404499 397709 466794 2311

401979

250984 280365 300345 101010 401849 300345 168629 352490 96 98963 454836 99000 58 363717 363722 98978 782 782 1834 2777 168549 401911 401911 401911 401911 101102 457205

Disease name

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 spondylocostal dysostosis Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Autosomal recessive Stickler syndrome Autosomal semi-dominant severe lipodystrophic laminopathy Autosomal SLE Autosomal spastic paraplegia type 30 Autosomal spastic paraplegia type 72 Autosomal systemic lupus erythematosus Autosomal thrombocytopenia with normal platelets AUTS2 syndrome AVED Avellino corneal dystrophy Avian influenza AVMD AxD AxD type I AxD type II Axenfeld anomaly Axenfeld syndrome Axenfeld-Rieger syndrome Axial mesodermal dysplasia spectrum Axial osteosclerosis Axial spondylometaphyseal dysplasia AXIN2-related AFAP AXIN2-related attenuated familial adenomatous polyposis AXIN2-related attenuated familial polyposis coli AXIN2-related attenuated FAP Axonal Charcot-Marie-Tooth disease with pyramidal involvement Axonal neuropathy-optic atrophycognitive deficit syndrome

ORPHA number 209004 1435 477668 284454 →399805 →399805 3471 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

Disease name

Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Ayazi syndrome Aymé-Gripp syndrome AZOOR Azoospermia due to maturation arrest Azoospermia due to meiosis defect Azoospermia-sinopulmonary infections syndrome 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

ORPHA number 1227 130 1228 109 139507 289539 1229 2753 1229 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 377 268829 →1658 79301 79303 79302 79095 50810 244283 14 1875 100976

Disease name

Bangstad syndrome Bangungut Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bantu siderosis BAP1-related tumor predisposition syndrome Baraitser-Brett-Piesowicz syndrome Baraitser-Burn syndrome Baraitser-Reardon syndrome 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 nevus syndrome Basal encephalocele Basan syndrome BASD1 BASD2 BASD3 BASD4 Basel-Vanagaite-Sirota syndrome BASM syndrome Bassen-Kornzweig disease Bassoe syndrome Bathing suit ichthyosis



23

ORPHA number 1948 79264 →1071 166113 113 65284 363444 110 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 1239 2705 117 476102 476102 247203

Disease name

Battaglia-Neri syndrome Batten disease Baughman syndrome Bazex syndrome Bazex-Dupré-Christol syndrome BBGD BBIS BBS 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 Behr syndrome Behrens-Baumann-Vogel syndrome Behçet disease Behçet-like disease due to HA20 Behçet-like disease due to haploinsufficiency of A20 Bellini carcinoma

ORPHA number 247203 1240 1492 100978 1241 86814 86814 610 157997 98816 98815 2841 251287 440233 254864 180284 1945 276148 71269 1429 1945 306 306 306 163717 1949 1949 1949 140927 209973 209973 65684 1544 64545 166308

166305

Disease name

Bellini duct carcinoma Bellini syndrome Ben Ari-Shuper-Mimouni syndrome Benallegue-Lacete syndrome Bencze syndrome 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 exophthalmos syndrome 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 familial nocturnal alternating hemiplegia in childhood Benign familial nocturnal alternating hemiplegia of childhood Benign focal amyotrophy Benign focal seizures of adolescence Benign idiopathic neonatal seizures Benign infantile focal epilepsy with midline spikes and wave during sleep Benign infantile seizures associated with mild gastroenteritis

ORPHA number 238624 285 464359 168816 86909 86909 140927 25968 342 1179 71518 166299

166302

65682 99960 99961 342 1945 324581 252164 180237 2198 54247 464336 528 171839 528 2241 647 274 178528 133 71269 797 321 1243 1243 1243 79332 65287

Disease name

Benign intracranial hypertension Benign joint hypermobility syndrome Benign metanephric tumour Benign multicystic peritoneal mesothelioma Benign myoclonic epilepsy of infancy Benign myoclonus epilepsy of infancy Benign neonatal-infantile epilepsy 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 Bernard-Soulier syndrome Berti lymphoma Berylliosis BES 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



24

ORPHA number 309310 354 584 134 118 118 329284 119 848 231222 231214 →33364 231393 65287 610 2114 2114 306 306 127 140927 1949 293284 293284 93311 98964 180086 180106 180111 2088 2182 79138 3286 →33364 1246 141333 41751 41751 41751 1986 295006 295177 295175 295006

Disease name

Beta-D-galactosidase deficiency Beta-galactosidase-1 deficiency Beta-glucuronidase deficiency Beta-ketothiolase deficiency Beta-mannosidase deficiency Beta-mannosidosis 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/phenylketo nuria 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 Bifid great toes, unilateral Bifid halluces

ORPHA number 295177 295175 295006 295177 295175 2695 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 276066 70567 1276 1276 1247 30391 244283 424982

Disease name

Bifid halluces, bilateral Bifid halluces, unilateral Bifid hallux Bifid hallux, bilateral Bifid hallux, unilateral Bifid nose 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 Bile acid CoA ligase deficiency and defective amidation Bile duct cancer Bilginturan brachydactyly Bilginturan syndrome Bilharziasis Biliary atresia Biliary atresia with splenic malformation syndrome Biliary cystadenocarcinoma

ORPHA number 386 →2697 98836 415286 205

79234

79235 205 79234 79235 1799 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 86870 86870 1834 90340 50945 1229 73271

Disease name

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 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 Blastic NK-cell lymphoma Blastic plasmacytoid dendritic cell neoplasm Blastogenesis defect Blau syndrome BLC BLC-PMG Bleeding diathesis due to a collagen receptor defect



25

ORPHA number 98885 98886 220443

420566

420566 1997 1253 1997 →2353 1252 2728 126 261572 261579

261559

261579

261572

261579

126

329255

293725

293707

293707 2728 3047 293725 2057

Disease name

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 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-ptosis-esotropiasyndactyly-short stature syndrome


1258

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 797 797 1297 97297 97297 84081 401874 319229 1844

Disease name

Blepharophimosis-radioulnar synostosis syndrome Blepharophimosis-telecanthusmicrostomia syndrome Blepharoptosis-cleft palateectrodactyly-dental anomalies 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 Boeck's sarcoid BOFS Bohring syndrome Bohring-Opitz syndrome Boichis disease BOLA3 deficiency Bolivian hemorrhagic fever Bone dysplasia, Azouz type

ORPHA number 1842 85182 300284 2050 2934 163 2941 1261 53719 1262 1263 1303 1933 107 206473 206473 127 1264 90001 36273 97297 69737 2250 85128 128 1267 1180 805 83313 →912 1270 1270 97353 50814 2680 329284 70589 86870 2901 199 1519 1272 2619 294996 295130

Disease name

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 Bosley-Salih-Alorainy 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 Boyadjiev-Jabs syndrome Boylan-Dew syndrome BPAN 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



26

ORPHA number 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 2956 391646 3168 93409 93394 1292 →448242 →448242 93302 93304 448242

Disease name

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-nystagmus-cerebellar ataxia syndrome Brachydactyly-preaxial hallux varus syndrome Brachydactyly-scoliosis-carpal fusion syndrome Brachydactyly-short staturemicrocephaly syndrome Brachydactyly-symphalangism syndrome Brachydactyly-syndactyly, Zhao type Brachymesophalangy II and V Brachymorphism-onychodysplasiadysphalangism syndrome Brachyolmia type 1, Hobaek type Brachyolmia type 1, Toledo type Brachyolmia type 2 Brachyolmia type 3 Brachyolmia, Hobaek/Toledo type

ORPHA number 93302 2899 79345 1295 441 52047 3323 1538 75374 178506 168598

352649

75389

467166 209905 255182 511 511 1296 1297 50815 52429 107 1299 79133 2669 319239 1945 85284 85284 65682 99960 99961 99960 99961 99990 99990 666 90354 →33364

Disease name

Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Brachytelephalangy-dysmorphismKallmann syndrome Bradbury-Eggleston syndrome Braddock syndrome Braddock-Carey syndrome Braddock-Jones-Superneau syndrome Bradyopsia Brain calcification, Rajab type Brain demyelination due to methionine adenosyltransferase deficiency Brain dopamine-serotonin vesicular transport disease Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome Brain-lung-thyroid syndrome Branched chain alpha-ketoacid dehydrogenase complex deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Branchial dysplasia-intellectual disability-inguinal hernia syndrome Branchio-oculo-facial syndrome Branchiogenic deafness syndrome Branchiootic syndrome Branchiootorenal syndrome Branchioskeletogenital syndrome Brauer syndrome Braun-Bayer syndrome Brazilian hemorrhagic fever 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

ORPHA number →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 47 528 79304 1299 100976 1980 125 65284 79241 111 47 2314 131 36258 2285 312 312 280785 280785 1867

Disease name

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 BSCL BSEP deficiency BSG syndrome BSI BSPDC 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



27

ORPHA number 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 →329931 329931 329918 401901 401901 1308 231242 97297 401948 85293 1309 75377 135 2848 159 56425 448010 136 369942 1578 2566 1310 436174

Disease name

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 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 CA-VA deficiency Cabezas syndrome Cacchi-Ricci disease CACD CACH syndrome CACP syndrome CACT deficiency CAD CAD-CDG CADASIL CADDS CADH deficiency CAEBV syndrome Caffey disease CAGSSS

ORPHA number 90791 90795 90793 1375 435988 99429 289601 199260

90290

280062 280065 1416 1408 228123 83483 289601 85192 →1466 3003 2163 →1466 79395 83472 1318 140 140 1319 295016 1327 1326 2848 376

1321

1323 3447 85164 1325 1766

Disease name

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 aponeurotic fibroma Calcinosis-Raynaud phenomenonesophageal involvementsclerodactyly-telangiectasia syndrome Calciphylaxis Calciphylaxis cutis Calcium pyrophosphate dihydrate crystal deposition disease Calderón-González-Cantu syndrome California disease Californian encephalitis CALJA 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-arthropathy-coxavara-pericarditis syndrome Camptodactyly-cleft palate-clubfoot syndrome Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome Camptodactyly-joint contracturesfacial skeletal defects syndrome Camptodactyly-overgrowth-unusual facies syndrome Camptodactyly-tall stature-scoliosishearing loss syndrome Camptodactyly-taurinuria syndrome CAMRQ syndrome

ORPHA number 141194 53719 141199 3319 1328 3261 141 289385 180242 71505 2700 325004 71279 2233 1335 1335 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

Disease name

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 Cantrell syndrome 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 syndrome 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



28

ORPHA number 79321 79322 79323 79324 79325 79326

397941

79329 79330 79332 79333 238459 263508 95428 263487 263501 314667 468699 468684 466703 86309 79327 91131 244310 263494 280071 300536

Disease name

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 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

ORPHA number 329178 370924 370927 448010 306686 2785 213605 100093 319308 418945 423781 300557 213787 213610 369891 137628

168796 1686 208600 875 2872 37553 1340 97292 2229 1342 500 70474

70474 1345 91130 90022

111

Disease name

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 Carcinoma of stomach, salivary gland type Carcinoma of the ampulla of Vater Carcinosarcoma of the cervix uteri Carcinosarcoma of the corpus uteri Cardiac anomalies-developmental delay-facial dysmorphism syndrome Cardiac anomalies-heterotaxy syndrome Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome Cardiac diverticulum Cardiac papillary fibroelastoma Cardiac tumor of child Cardiocranial syndrome, Pfeiffer type Cardiodysrhythmic potassiumsensitive periodic paralysis Cardiofaciocutaneous syndrome Cardiogenic shock Cardiogenital syndrome Cardiomelic syndrome type 3 Cardiomyopathic lentiginosis Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency Cardiomyopathy with myopathy due to COX deficiency Cardiomyopathy-cataract-hip spine disease syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome Cardiomyopathy-renal anomalies syndrome Cardioskeletal myopathy with neutropenia and abnormal mitochondria

ORPHA number 111 3238 2072 1358 79403 →293843 2947 →293843 1359 319340 319340 97286 1359 139411 97286 97286 42

156 228302

228305

228308

228302 228308

228305

156 228302

228305

228308 228302 228308 228305

Disease name

Cardioskeletal myopathyneutropenia syndrome Cardiospondylocarpofacial syndrome Cardiovascular Gaucher disease Carey-Fineman-Ziter syndrome Carmi syndrome Carnevale syndrome Carnevale-Hernández-del Castillo syndrome Carnevale-Krajewska-Fischetto syndrome Carney complex Carney complex variant Carney complex-trismuspseudocamptodactyly syndrome Carney dyad Carney syndrome Carney triad 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



29

ORPHA number 157 157 158 158 159 1361 1361 53035 480520 65759 93973 2767 64692 175 →175 65282 209908 56425 94095 275517 1101 160 2513 195 50839 926 1373 1366 1368 314993 1383 162

436174

1375 1381 1387 →1466

Disease name

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 Cartilage-hair hypoplasia Cartilage-hair hypoplasia-likeskeletal dysplasia without 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-hypertrichosis-intellectual disability syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disabilityhypogonadism syndrome Cataract-microcephalyarthrogryposis-kyphosis syndrome

ORPHA number →1466 1377 2712

1380 100990 464343 464343 567 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

Disease name

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 CATCH 22 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

ORPHA number 468684 98972 48431 2008 99827 661 289499 319276 2505 457246 280779 86870 437552 238505 98841 293825 98869 98873 98870 293825 98869 98873 98870 293825 98869 98873 98870 293825 85199 293825 247203 79318 79319 79320 79321 79322 79323 79324 79325 79326 86309 79327 79328 91131 244310 263494 280071 324737 300536 324422 319646 329178

Disease name

CCDC115-CDG CCDF CCFDN CCGE syndrome CCHF CCHS CCMCO CCRCC CCSF CCSK CCV 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 CDG1A CDG1B CDG1C CDG1D CDG1E CDG1F CDG1G CDG1H CDG1I CDG1J CDG1K CDG1L CDG1M CDG1N CDG1O CDG1P CDG1Q CDG1R CDG1S CDG1T CDG1U



30

ORPHA number 370921 370924 370927 448010 79329 79330 99843 79332 79333 238459 263508 95428 263487 263501 314667 464443 356961 468699 468684 466703 79318 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

Disease name

CDG1W CDG1X CDG1Y CDG1Z CDG2A CDG2B CDG2C CDG2D CDG2E CDG2F CDG2G CDG2H CDG2I CDG2J CDG2K CDG2L CDG2M CDG2N CDG2O CDG2P CDG syndrome type Ia 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

ORPHA number 300536 324422 319646 329178 370921 370924 370927 448010 79318 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 2140 1529 178029 1490

Disease name

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 CDG-Ib CDG-Ic 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

ORPHA number 35173 35173 158 468641 1459 2718 1515 66631 275517 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

Disease name

CDPX2 CDPXD CDSP CEAS CEC Cecato de Lima-Pinheiro syndrome CED CEDNIK syndrome CEDS 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



31

ORPHA number 89841 89841 319160 1945 79277 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

Disease name

ORPHA number

Disease name

Centripetal recessive dystrophic Cerebral juvenile and adult form of 77261 epidermolysis bullosa Gaucher disease Centripetalis recessive dystrophic Cerebral proliferative glomeruloid 221126 epidermolysis bullosa vasculopathy 329217 Cerebral sinovenous thrombosis Centronuclear myopathy type 4 447788 Cerebral visual impairment Centrotemporal epilepsy CEP Cerebro-cutaneous syndrome with 397922 iron overload Cephalothoracic lipodystrophy Cerebro-oculo-facial-lymphatic CEPT deficiency →2995 syndrome Cerebellar ataxia with azoospermia 1393 Cerebrocostomandibular syndrome and intellectual disability Cerebrofacial arteriovenous Cerebellar ataxia, Cayman type 141194 metameric syndrome type 1 Cerebellar ataxia-areflexia-pes Cerebrofacial arteriovenous cavus-optic atrophy-sensorineural 53719 metameric syndrome type 2 hearing loss syndrome Cerebrofacial arteriovenous Cerebellar ataxia-ectodermal 141199 metameric syndrome type 3 dysplasia syndrome 314679 Cerebrofacioarticular syndrome Cerebellar ataxia-hypogonadism 1394 syndrome Cerebrofaciothoracic dysplasia 912 Cerebellar ataxia-intellectual Cerebrohepatorenal syndrome disability-dysequilibrium syndrome Cerebromedullospinal 2406 syndrome disconnection Cerebellar ataxia-intellectual Cerebrooculodentoauriculoskeletal 1458 disability-optic atrophy-skin syndrome abnormalities syndrome Cerebrooculofacioskeletal 1466 Cerebellar atrophy with progressive syndrome microcephaly 66625 Cerebrooculonasal syndrome Cerebellar hypoplasia-tapetoretinal 1396 Cerebrorenodigital syndrome degeneration syndrome Cerebroretinal microangiopathy 313838 Cerebellar liponeurocytoma with calcifications and cysts Cerebellar syndrome-pigmentary →247691 Cerebroretinal vasculopathy maculopathy syndrome 909 Cerebrotendinous xanthomatosis Cerebellar vermis hypoplasia1980 Cerebrovascular ferrocalcinosis oligophrenia-congenital ataxia169079 Cernunnos deficiency coloboma-hepatic fibrosis 169079 Cernunnos XLFD Cerebellar-facial-dental syndrome 169079 Cernunnos-XLF deficiency Cerebellofaciodental syndrome 98989 Cerulean cataract Cerebellooculorenal syndrome 213772 Cervical adenocarcinoma Cerebelloparenchymal disorder IV 213828 Cervical adenoid basal carcinoma Cerebellotrigeminal-dermal 213823 Cervical adenoid cystic carcinoma dysplasia syndrome 213792 Cervical adenosarcoma Cerebral arteriovenous 99079 Cervical aortic arch malformation 213787 Cervical carcinosarcoma Cerebral autosomal dominant 141046 Cervical dermoid cyst arteriopathy with subcortical 213837 Cervical germ cell cancer infarcts and leukoencephalopathy Cervical hypertrichosis-peripheral Cerebral autosomal recessive 2218 neuropathy syndrome arteriopathy with subcortical 213807 Cervical leiomyosarcoma infarcts and leukoencephalopathy 213837 Cervical malignant germ cell tumor Cerebral dysgenesis-neuropathyichthyosis-palmoplantar Cervical malignant Müllerian mixed 213787 keratoderma syndrome tumor Cerebral gigantism Cervical malignant peripheral 213812 neuroectodermal tumor Cerebral gigantism, Nevo type 213817 Cervical papillary carcinoma Cerebral gigantism-jaw cysts syndrome

ORPHA number 213812 213802 268392 268762 213767 141067 141067 3456 268397 268766 195 586 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 101101

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 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 Charcot-Marie-Tooth disease type 2B2



32

ORPHA number 101102 300319 397968 443073 443950 64748 99948 99955 99956 363981 99949 99950 99951 99952 99953 99954 139515 391351 90120 363981 90658

90103

93114 64751 138 138 921 1496 1406 168577 98975 293603 98975

Disease name

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 Charlevoix disease Charlie M syndrome CHC type 2 CHED1 CHED2 CHEDI

ORPHA number 167 167 381 167 293603 1221 99647 955 812 184 3019 →672 268882 1136 268882 1136 324625 90280 139 139 64280 439175 209908 439175 135 168782 293955 391497 363677

284324 33402 33402 247667 171439 247667

466921 247667

Disease name

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 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 HCC Childhood-onset hepatocellular carcinoma Childhood-onset hypophosphatasia Childhood-onset nemaline myopathy Childhood-onset phosphoethanolaminuria Childhood-onset progressive contractures-limb-girdle weaknessmuscle dystrophy syndrome Childhood-onset Rathburn disease

ORPHA number 101000 3474 2888 3218 757 86850 180 137914 137920 137917 1200 70567 480501 69663 173 79303 1414 1415 →2697 75234 79506 75234 79344 79346 79347 263463 280586 3144 50945 2098 166272 1422 1422 35173

Disease name

Childhood-onset spastic paraparesis-distal muscle wasting syndrome 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 loss-cardiac 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 retinopathycleft palate syndrome Cholestatic jaundice-renal tubular insufficiency syndrome Cholesterol ester storage disease Cholesterol-ester transfer protein deficiency Cholesteryl ester storage disease 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



33

ORPHA number 289 319195 404507 55880 444077 251674 178 2388 2388 209905

252015 251899 2807 1433 39044 180 1435 1434 94087 181 1436 85278 1808 98879 182 182 319303 319303 1450 3380 330064 314928 99871 137817

71279

435988 435988

325004

Disease name

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 Chromoblastomycosis Chromomycosis Chromophobe renal cell adenocarcinoma Chromophobe renal cell carcinoma Chromosome 8-derived supernumerary ring/marker Chromosome 18 duplication 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

ORPHA number 2137 133 133 133 56425 79078 103907 314373 397606 397606 1670 2566 279891 468641 168940 2902 2566 99921 521 379 396 1451 83418 2932

2932 294422 2978

284448 1334 99873 521 521 98823 86830 77261 86829

Disease name

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 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

ORPHA number 439202 439202 95426 330064 91359 324964

77297

217566 71279 379 83418 70591 97353 37748 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

Disease name

Chronic obstetric brachial plexus injury Chronic obstetric brachial plexus palsy Chronic pain requiring intraspinal analgesia Chronic photosensitivity dermatitis Chronic pneumonitis of infancy Chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemianeutrophilic dermatosis syndrome 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 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



34

ORPHA number 435651 2932 79394 294422 1223 2114 1451 391397 642 478664 2978 69744 309854 57777 157820 247525 247585 247525 247585 251383 90790 97249 168984 188 466026 466026 90794 315306 315311 85138 329977 329977 93605 268145 268145 268145 247525 247546 247546 325524 90794

315306

Disease name

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 Circumscribed palmoplantar hypokeratosis Cirrhosis-dystonia-polycythemiahypermanganesemia syndrome Cirrhotic cardiomyopathy CISS Citrullinemia type 1 Citrullinemia type 2 Citrullinemia type I Citrullinemia type II CK syndrome CLAH CLAM CLAPO syndrome Clarkson disease Class I G6PD deficiency 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

ORPHA number 315311

325524 93930 79239 98962 289857 98962 391 391 98846 98845 98844 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

Disease name

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 Hodgkin disease Classic Hodgkin lymphoma Classic Hodgkin lymphoma, lymphocyte-depleted type Classic Hodgkin lymphoma, lymphocyte-rich type Classic Hodgkin lymphoma, mixed cellularity type 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

ORPHA number 485350 398971 404511 319276 319276 319276 457246 97338 101023 141291 199306 199306 1995 199306 888 2319 2003 3253 →1896 2328 2001 3253 95465 141242 2008 921 2013 2016 2015 2010 99772 99772 99772 3429 1997 1452

Disease name

CLCN4-related X-linked intellectual disability syndrome Clear cell adenocarcinoma of 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-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-short stature-vertebral anomalies syndrome Cleft palate-stapes fixationoligodontia syndrome Cleft soft palate Cleft velum Cleft velum palatinum Cleft-limb-heart malformation syndrome syndrome Clefting-ectropion-conical teeth syndrome Cleidocranial dysostosis



35

ORPHA number 1452 3472 1453 284448 228329 228349 228346 228340 228343 228360 228363 228366 228354 1947 228357 228337 314629 314632 352709 93929 314950 221083 268366 189 100978 93274 93267 140944 411493 3253 192 85136 137667 289504 1334 258 98893 →370953 370959 370968 329178 370980 370959 370968 370980 371007

Disease name

Cleidocranial dysplasia Cleidocranial dysplasiamicrognathia-absent thumbs syndrome Cleidorhizomelic syndrome CLIPPERS CLN1 disease CLN2 disease CLN3 disease CLN4A disease CLN4B disease CLN5 disease CLN6 disease CLN7 disease CLN8 disease CLN8 disease, Northern epilepsy variant CLN9 disease CLN10 disease CLN11 disease CLN12 disease CLN13 disease Cloacal exstrophy Clonal hypereosinophilic syndrome Clonic hemifacial spasm Closed iniencephaly Clouston syndrome Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull-micromelic bone dysplasia syndrome Cloverleaf skull-multiple congenital anomalies syndrome CLOVES syndrome CLP1-related pontocerebellar hypoplasia CLPED1 CLS CLWM CM-AVM CMAMMA CMC CMD1A CMD1B CMD1C CMD with cerebellar involvement CMD with intellectual disability CMD with intellectual disability and severe epilepsy CMD without intellectual disability CMD-CRB CMD-MR CMD-no MR CMDH

ORPHA number 521 98823 252202 99763 99763 238459 86830 71 590 101081 101082 101083 101084 90658 101085 101075 324611 435819 435387 401964 99946 99947 99936 99937 99938 99939 99940 99941 101102 99942 99943 99944 99945 228179 228174 284232 300319 329258 397968 443073 443950 397735 447964 466775 466768 101077 99948 99955 99956 363981 99949 99950 99951

Disease name

CML CMML CMMR-D syndrome CMO I CMO II CMP-sialic acid transporter deficiency CMPD-U CMRD CMS CMT1A CMT1B CMT1C CMT1D CMT1E CMT1F CMT1X CMT2 due to KIF5A mutation CMT2 due to TFG mutation CMT2 due to VCP mutation CMT2 with giant axons CMT2A1 CMT2A2 CMT2B CMT2C CMT2D CMT2E CMT2F CMT2G CMT2H CMT2I CMT2J CMT2K CMT2L CMT2M CMT2N CMT2O CMT2P CMT2Q CMT2R CMT2S CMT2T CMT2U CMT2V CMT2X CMT2Z CMT3X CMT4A CMT4B1 CMT4B2 CMT4B3 CMT4C CMT4D CMT4E

ORPHA number 99952 99953 99954 139515 391351 101078 99014 90120 352675 1556 100043 100044 100045 100046 93114 352670 101075 101076 101077 101078 99014 352675 468635 137698 319160 306686 1454 1456 397725 190 313838 79282 79283 79284 369955 53721 352682 352682 1911 90068 228123 228123 3233 191 90321 90322 90324 90321

Disease name

CMT4F CMT4G CMT4H CMT4J CMT4K CMT4X CMT5X CMT6 CMT6X CMTC CMTDIA CMTDIB CMTDIC CMTDID CMTDIE CMTDIF CMTX1 CMTX2 CMTX3 CMTX4 CMTX5 CMTX6 CMUSE CMV disease in patients with impaired cell mediated immunity deemed at risk CNM4 CO-induced parkinsonism COACH syndrome 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



36

ORPHA number 90322 90324 1458 192 1465 1466 263508 435934 435934 263501 263487 464443 79333 95428 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 1475

Disease name

Cockayne syndrome type II Cockayne syndrome type III CODAS syndrome 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 syndrome Cogan-Reese syndrome Cognitive impairment-coarse faciesheart defects-obesity-pulmonary 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 macula-brachydactyly type B syndrome Coloboma of optic disc Coloboma of optic nerve with renal disease


3474

138

468672 98938 363741

424099

435930

→138 1198 100080 16 83595 83595 83595 733 261584 90793

445062 370114 356978

356978

26

79282

Disease name

Coloboma of optic papilla Coloboma of superior eyelid Coloboma-congenital heart diseaseichthyosiform 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 cerebellar and peripheral ataxia-hearing loss-diabetes 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 Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC

ORPHA number 79283

79284

369955

369962

35909

99732

308386

308393

308400

440727 440727 221078 169082 169090

217390

217390 317473 445018 317476 397964 317428 431149

Disease name

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 Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to OX40 deficiency



37

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

431149

157949

228423

436252

169079

1979

289504 289504 254920 254925 137908 254930 319504 319509

Disease name

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 Combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 9

ORPHA number 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 →288 620 1572

280821

Disease name

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 lipase-colipase 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 Common mesentery Common variable immunodeficiency Communicating congenital bronchopulmonary-foregut malformation

ORPHA number 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 306644 268316 458758 168966

Disease name

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 canal-left 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 Complication after organ transplantation Complication in hemodialysis Composite hemangioendothelioma Composite Hodgkin and nonHodgkin lymphoma



38

ORPHA number 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 86815 217399 453510 294977

Disease name

Composite lymphoma Comèl-Netherton syndrome Concentric demyelination Conductive deafness with stapes fixation Conductive deafness-malformed external ear syndrome Conductive deafness-ptosis-skeletal anomalies syndrome Conductive hearing loss-malformed 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 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 thigh and lower leg with foot present

ORPHA number 295091

295089 93322 435623 295118 295116 2879 294975

295087

295085

247775 96269 294990 295114 973 294988 295112 295110 324353 93583 90791

90795 90793

95699

95699 95701 33355 79 210122

Disease name

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 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome POR deficiency Congenital adrenal hypoplasia of maternal cause Congenital aleukocytosis Congenital alpha2-antiplasmin deficiency Congenital alveolar capillary dysplasia

ORPHA number 3319 3319 86816 217399 453510 95507 91489 95449 3093 2037 2037 2037 93322 353334 353334 1195 60041 162526

1216 48 48 48 93177 79301 79303 79302 79095 2292 71278 2040 3161 289499

Disease name

Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenic purpura 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 arteriovenous anastomoses of the retina Congenital arteriovenous communication of the retina Congenital atransferrinemia Congenital atrioventricular block Congenital auditory ossicle malformation without external ear 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



39

ORPHA number 300313

300313

1369

1376

464738

330054

330054

48431 661

99803 2345 53689 329242 329242 264688 2505 91413 440221 98686 440233 269505 99129 115 178382 178382 53691 95491 2444 280827 280832

Disease name

Congenital cataract-deafness-severe developmental delay syndrome Congenital cataract-hearing losssevere developmental delay syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital cataract-ichthyosis 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 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

ORPHA number 280840 280847 280854 2444 280827 280832 280840 280847 280854 480501 2444 280832 280840 280847 168612 2140 3474 79318 79319 79320 79321 79322 79323 79324 79325 79326 86309 79327 79328

Disease name

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 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 PIGL 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

ORPHA number 91131 244310 263494 280071 324737 300536 324422 329178 370921 370924 370927 448010 397941 79329 79330 79332 79333 238459 263508 95428 263487 263501 314667 464443 356961 468699 468684 466703

Disease name

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 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



40

ORPHA number 79318 79319 79320 79321 79322 79323 79324 79325 79326 397941 79329 79330 79332 79333 238459 263508 95428 263487 263501 314667 464443 356961 468699 468684 466703 86309 79327 91131

Disease name

Congenital disorder of glycosylation type Ia Congenital disorder of glycosylation type Ib Congenital disorder of glycosylation type Ic Congenital disorder of glycosylation type Id 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

ORPHA number 244310 263494 280071 324737 300536 324422 329178 370921 370924 370927 293825 98869 98873 98870 293825 98869 98873 98870 293825 67044 70596 91491 295032 295227 295225 103910 168601 168601 292 70596 157826

Disease name

Congenital disorder of glycosylation type In Congenital disorder of glycosylation type Io Congenital disorder of glycosylation type Ip 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 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


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 157826 98976 157826 330 60041 1355

139

Disease name

Congenital erosive and vesicular dermatosis 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 gingival cell tumor Congenital glaucoma Congenital granular cell tumor Congenital Hageman factor deficiency Congenital heart block Congenital heart defect-round facedevelopmental delay syndrome Congenital hemidysplasia with ichthyosiform nevus and limbs defects



41

ORPHA number 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

2271

2271 631

Disease name

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 Congenital ichthyosismicrocephalus-quadriplegia syndrome Congenital ichthyosismicrocephalus-tetraplegia syndrome Congenital IGHD

ORPHA number 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 231662 231671 231679 231692 295034 53690

Disease name

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 diseasenephrotic syndrome-epidermolysis 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 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 lactase deficiency

ORPHA number 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

69063

2665 621 391376 566 199293 2290 2290 566 99057

Disease name

Congenital lactic acidosis, SaguenayLac-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 overgrowthvascular malformation-epidermal nevi-skeletal anomaly syndrome Congenital lipomatous overgrowthvascular malformation-epidermal nevi-spinal 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 Congenital membranous nephropathy due to maternal antineutral endopeptidase alloimmunization Congenital mesoblastic nephroma Congenital methemoglobinemia Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Congenital microcoria Congenital microgastria Congenital microvillous atrophy Congenital microvillus atrophy Congenital miosis Congenital mitral stenosis



42

ORPHA number 98905 258 157973

280671

258 98893 →370953 →370953 370959 371007 34520 370968

329178

34520

280671

370980 272 75840

1875 590 353327 98904 319160 424107 199329 168572 289380

Disease name

Congenital multicore myopathy with external ophthalmoplegia Congenital muscular dystrophy due to laminin alpha2 deficiency Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect Congenital muscular dystrophy type 1A Congenital muscular dystrophy type 1B Congenital muscular dystrophy type 1C Congenital muscular dystrophy type 1D Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with hyperlaxity Congenital muscular dystrophy with integrin alpha-7 deficiency Congenital muscular dystrophy with intellectual disability Congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital muscular dystrophy with ITGA7 deficiency Congenital muscular dystrophy with mitochondrial structural abnormalities Congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy, Fukuyama type Congenital muscular dystrophy, Ullrich type Congenital muscular dystrophyinfantile cataract-hypogonadism 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

ORPHA number 831 162521 168486 306504 443988 839

306504

306504

168486

369852

369852

79394 269510 269505 1216 208513 269510 440221 79144 79144 157713 2772 465 2805 313906 139414 264675 99130 99124 295036 295237

Disease name

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 Congenital nonprogressive spinocerebellar ataxia Congenital obstructive hydrocephalus Congenital oculomotor nerve palsy Congenital onychodysplasia Congenital onychodysplasia of the index fingers Congenital or early infantile CACH syndrome Congenital osteogenesis imperfectamicrocephaly-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

ORPHA number 295234 99072 332 626 465 2907 90042 480531 480531 124 749 83461 79452 617 617 238654 238646 238650 327 66630 295020 295022 157808 295024 295018 295026 91411 2444 280827 280832 280840 280847 280854

Disease name

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 Congenital pseudoarthrosis of 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



43

ORPHA number 264675 2414 3161 3189 3188 185 124 295032 3269 97598 97598 281190 353334 353334 91495 190 178382 290 974 974 2301 1987 295030 93400 260305

369861

263435 103908 94068 215 75382 99122 99122 99122 3197

Disease name

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 radial head dislocation Congenital radioulnar synostosis Congenital renal artery stenosis 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 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 inferior caval vein Congenital stenosis of the inferior vena cava Congenital stenosis of the IVC Congenital stiff man syndrome

ORPHA number 101068 328 141121 35122

306446

306474

306436

306462

306486

35122

306446

306474

306436

306462 35122 306446 306474 306436 306462

306486 3465 99059 98948 99856 2039 210576 440221

Disease name

Congenital stromal corneal dystrophy Congenital Stuart factor deficiency Congenital subglottic stenosis Congenital sucrase-isomaltase deficiency Congenital sucrase-isomaltase deficiency with minimal starch tolerance Congenital sucrase-isomaltase deficiency with starch and lactose 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 syringomyelia Congenital systemic arteriovenous fistula Congenital temporomandibular joint ankylosis Congenital third cranial nerve palsy

ORPHA number 93583 99125 858 141127 3347 95430 95459 231013 210576 88629 98686 93583 141099 92050 99060 95457 1166 2258 1864 291 2291 178382 295203 295201 137932 216694 216694 2391 860

216729

99042

860

216729

99042 99827 99827

Disease name

Congenital thrombotic thrombocytopenic purpura Congenital total pulmonary venous return anomaly Congenital toxoplasmosis Congenital tracheal stenosis Congenital tracheobronchomegaly Congenital tracheomalacia Congenital tricuspid stenosis Congenital trigeminal anesthesia Congenital trismus Congenital tritanopia Congenital trochlear nerve palsy Congenital TTP Congenital tubular nose Congenital tufting enteropathy 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



44

ORPHA number 97566 97231 369929 280210 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

ORPHA number Congo red-negative amyloidosis-like 180118 glomerulopathy 366 Disease name

Disease name

Cordiform uterus Cori disease Conjunctivitis lignosa 366 Cori-Forbes disease Conn adenoma with seizures and Corneal anesthesia-deafness1051 neurological abnormalities intellectual disability syndrome Connatal PMD Corneal dystrophy epithelial-short 1661 Connective tissue disorder due to stature syndrome LH3 deficiency 98962 Corneal dystrophy Groenouw type I Connective tissue disorder due to 98969 Corneal dystrophy Groenouw type II lysyl hydroxylase-3 deficiency Corneal dystrophy of Bowman layer 98961 Connective tissue dysplasia, type 1 Spellacy type Corneal dystrophy of Bowman layer 98960 Cono-spondylar dysplasia type 2 Conorenal syndrome Corneal dystrophy of Bowman layer 98961 type I Conotruncal anomaly face syndrome Corneal dystrophy of Bowman layer 98960 Conradi-Hünermann-Happle type II syndrome Corneal dystrophy with progressive 1490 Constitutional megaloblastic deafness anemia with severe neurologic Corneal dystrophy-perceptive 1490 disease deafness syndrome Constitutional mismatch repair Corneal intraepithelial dyskeratosisdeficiency syndrome 352662 palmoplantar hyperkeratosisConstriction rings syndrome laryngeal dyskeratosis syndrome 3177 Constrictive bronchiolitis Corneal-cerebellar syndrome 199 Contiguous ABCD1 DXS1357E Cornelia de Lange syndrome deletion syndrome 96095 Cornelia de Lange-like syndrome Continuous muscle fiber activity 3194 Corneo-dermato-osseous syndrome syndrome 2041 Coronaro-cardiac fistula Continuous spikes and waves during 2041 Coronary arterial fistulas sleep 2041 Coronary arterial malformations Continuous spikes and waves during Coronary artery intramyocardial 99085 slow-wave sleep course Contractures-developmental delay99118 Coronary sinus atresia Pierre Robin syndrome 99117 Coronary sinus stenosis Contractures-ectodermal dysplasiaCorpus callosum agenesis of with 50 cleft lip/palate syndrome chorioretinal abnormality Contractures-webbed neckCorpus callosum agenesis-abnormal 2508 micrognathia-hypoplastic nipples genitalia syndrome syndrome Corpus callosum agenesisCooks syndrome 3338 blepharophimosis-Robin sequence Cooley anemia syndrome Cooper-Jabs syndrome Corpus callosum agenesis-double 1492 COP urinary collecting system syndrome COPA defect Corpus callosum agenesisCoPAN 52055 intellectual disability-colobomaCopenhagen syndrome micrognathia syndrome Coppock-like cataract Corpus callosum agenesis459074 macrocephaly-hypertelorism COQ4-related neonatal syndrome encephalomyopathy Corpus callosum agenesisCor triatriatum dexter 1496 neuronopathy syndrome Cor triatriatum dextrum Corpus callosum agenesisCor triatriatum sinister 1553 polysyndactyly syndrome Cor triatriatum sinistrum Corpus callosum dysgenesisCoralliform cataract →3157 hypopituitarism syndrome

ORPHA number 275543 2318 1389

300570 268994 163681 3152 447788 454887 199247 54251 99763 96253 141163 67047 67047 3071 1507 1914 93333 1507 101078 201 201 99932 70472 781 1508 1509 254920 254925 137908 254930 319504 319509 314637 324535 314051 319514 319519 319524 352563 369913

Disease name

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 Coumarin embryopathy 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 COXPD17



45

ORPHA number 420728 420733 444013 444458 447954 477684 477774 466784 478029 478042 2444 280827 280832 280840 280847 280854 475 300564 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

420485

Disease name

COXPD20 COXPD21 COXPD23 COXPD24 COXPD25 COXPD26 COXPD27 COXPD28 COXPD29 COXPD30 CPAM CPAM type 0 CPAM type 1 CPAM type 2 CPAM type 3 CPAM type 4 CPD IV CPFE 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 Cranio-cervical dystonia with laryngeal and upper-limb involvement

ORPHA number 2115 1525 2053 2053 7 1513 1514 1515 2099 85168 1681 1777

→1394

1798 2095 314555

459061 1516 1529 293843 363705 1520 228390 1519 1521 1520 50814 85184 1522 1524 54595 63260 157832 284149 1541 2145

Disease name

Cranio-facio-digito-genital syndrome Cranio-osteoarthropathy Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Craniocerebellocardiac dysplasia Craniodiaphyseal dysplasia Craniodigital syndrome-intellectual disability syndrome Cranioectodermal dysplasia Craniofacial and osseous defectsintellectual disability syndrome 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 statureectodermal anomalies-intellectual 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 dysplasia-Poland anomaly syndrome Craniofrontonasal syndrome Craniolenticulosutural dysplasia Craniometadiaphyseal dysplasia, wormian bone type Craniometaphyseal dysplasia Craniomicromelic syndrome Craniopharyngioma Craniorachischisis Craniorhiny Craniosynostosis and dental anomalies Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type

ORPHA number 1527 1541 1532 85199 1530 2872

1538

1535 1533

171839

52054

1540 1528 2095 75373 275543 184 71 52503 99854 504 280569 90290 281 281190 205 79234 79235 99827 99827 1545 1461 1461 891 313838 324964 1380 2930 2719

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-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 Crisponi syndrome Criss-cross atrioventricular relationships Criss-cross heart Criswick-Schepens syndrome CRMCC CRMO Crome syndrome Cronkhite-Canada syndrome Cross syndrome



46

ORPHA number 2935 2935 439881 207 207 93262 93262 2905 290 →247691 411527 91139 91138 1546 2032 163708 468635 1302 1547 1547 2052 1548 1549 357329 98967 101068 443079 35122 306446 306474 306436 306462 306486 1465 100008 329217 725 725 70591 436159 247525 247585 909 158

Disease name

Crossed polydactyly Crossed polysyndactyly Croupous bronchitis Crouzon craniofacial dysostosis Crouzon disease Crouzon syndrome-acanthosis nigricans syndrome Crouzon-dermoskeletal syndrome Crow-Fukase syndrome CRS CRV CRVO Cryoglobulinemia type 1 Cryoglobulinemic vasculitis Cryptococcosis Cryptogenic fibrosing alveolitis Cryptogenic late-onset epileptic spasms Cryptogenic multifocal ulcerous stenosing enteritis Cryptogenic organizing pneumonia Cryptomicrotia-brachydactyly syndrome Cryptomicrotia-brachydactylyexcess fingertip arch syndrome Cryptophthalmos-syndactyly syndrome Cryptorchidism-arachnodactylyintellectual disability syndrome Cryptosporidiosis Cryptosporidiosis-chronic cholangitis-liver disease syndrome Crystalline stromal dystrophy CSCD CSCR CSID CSID with minimal starch tolerance CSID with starch and lactose intolerance CSID with starch intolerance CSID without starch intolerance CSID without sucrose intolerance CSS CST3-related amyloidosis CSVT CSWS CSWSS syndrome CTEPH CTLA-4 haploinsufficiency with autoimmune infiltration disease CTLN1 CTLN2 CTX CUD

ORPHA number →3157 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 178475 464321 1555

Disease name

Culler-Jones syndrome Curatolo-Cilio-Pessagno syndrome Curly fiber corneal dystrophy Curly hair-acral keratoderma-caries 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 Cutaneous toxin-mediated botulism Cutaneovisceral angiomatosisthrombocytopenia syndrome Cutis gyrata-acanthosis nigricanscraniosynostosis syndrome


2962 171719 1556 →357225

→357225

→357225

→357225

→357225

→357225 3327 1572 466670 306692 2686 228379 210 79493 171886 90795 2674 212 212 394 212 100008 400 586 2575 2111 79486 85136 229

Disease name

Cutis laxa acquisita Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Cutis laxa-corneal cloudingintellectual disability syndrome Cutis laxa-Marfanoid syndrome Cutis marmorata telangiectatica congenita Cutis verticis gyrata-intellectual disability syndrome Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss syndrome Cutis verticis gyrata-thyroid aplasiaintellectual disability syndrome Cutler-Bass-Romshe syndrome CVID Cyanide poisoning Cyanide-induced parkinsonism Cyclic neutropenia Cyclosporine-induced folliculodystrophy Cyclosporosis CYLD cutaneous syndrome Cylindrical spirals myopathy CYP11B1 deficiency Cyprus facial-neuromusculoskeletal syndrome Cystathionase deficiency Cystathione gamma-lyase deficiency syndrome Cystathionine beta-synthase deficiency Cystathioninuria Cystatin amyloidosis Cystic echinococcosis Cystic fibrosis Cystic fibrosis-gastritismegaloblastic anemia syndrome Cystic hamartoma of lung and kidney Cystic hygroma Cystic leukoencephalopathy without megalencephaly Cystic medial necrosis of aorta



47

ORPHA number 1560 213 214 93612 93613 214 75381 472 180261 180261 70472 70472 95702

137698 94087 477787 137678 2736 2917 2437 2953 2953 90038 356978 356978 356978 79315 79315 79315 93599 941 941 941 2134 93581 93578 93575 357008 93579 93580 93576 217023 1146 1146

Disease name


Disease name


Disease name

Cysticercosis DA5D De la Chapelle dysplasia Cystinosis Da Silva syndrome De la Chapelle syndrome 251515 DA10 3157 Cystinuria De Morsier syndrome 458768 Dabska tumor →910 Cystinuria type A De Sanctis-Cacchione syndrome 141083 Dacryocele 1570 Cystinuria type B De Smet-Fabry-Fryns syndrome 33355 Cystinuria-lysinuria syndrome Dacryocystitis-osteopoikilosis De Vaal disease 1562 syndrome 71277 Cystoid macular dystrophy De Vivo disease 141083 Dacryocystocele Cystoisosporiasis Deaf blind hypopigmentation 3214 2186 Daentl-Townsend-Siegel syndrome syndrome, Yemenite type Cystosarcoma phyllode 1563 Dahlberg syndrome Deafness with labyrinthine aplasia, Cystosarcoma phylloide 90024 microtia, and microdontia Dahlberg-Borer-Newcomer Cytochrome C oxidase deficiency, 1563 syndrome Deafness-cataracts-skeletal French-Canadian type 2663 anomalies syndrome 2181 Daish-Hardman-Lamont syndrome Cytochrome oxidase deficiency, 3241 Deafness-craniofacial syndrome 275523 DALD Saguenay-Lac-Saint-Jean type Deafness-dystonia-optic 1183 Cytomegalic congenital adrenal Dancing eye syndrome 52368 neuronopathy syndrome hypoplasia 1183 Dancing eye-dancing feet syndrome Deafness-ear malformation-facial Cytomegalovirus disease in patients Dandy-Walker malformation-facial 3232 →42775 palsy syndrome with impaired cell mediated hemangioma syndrome immunity deemed at risk Deafness-enamel hypoplasia-nail Dandy-Walker malformation3220 1566 defects syndrome Cytophagic histiocytic panniculitis postaxial polydactyly syndrome Deafness-encephaloneuropathyCytosolic phospholipase-A2 alpha 2091 Daneman-Davy-Mancer syndrome 254898 obesity-valvulopathy syndrome deficiency associated bleeding 34587 Danon disease disorder Deafness-epiphyseal dysplasia-short 99645 Dappled diaphyseal dysplasia 3218 stature syndrome Czech dysplasia, metatarsal type 218 Darier disease Deafness-genital anomaliesCzeizel syndrome 316 Darier-Gottron disease 3224 metacarpal and metatarsal Czeizel-Brooser syndrome 218 Darier-White disease synostosis syndrome Czeizel-Losonci syndrome 390 Darling disease Deafness-Hermann type D4ST1-deficient EDS 3237 293978 DAVID syndrome symphalangism syndrome D4ST1-deficient Ehlers-Danlos 75565 Davies disease 90646 Deafness-hypogonadism syndrome syndrome 2806 Dawson's encephalitis 94064 Deafness-infertility syndrome D+HUS 2143 DBS/FOAR syndrome Deafness-intellectual disability D,L-2-HGA 85321 1775 DC syndrome, Martin-Probst type D,L-2-hydroxyglutaric acidemia 79456 DCM Deafness-lymphedema-leukemia D,L-2-hydroxyglutaric aciduria 3226 66634 DCMA syndrome syndrome D-2-HGA 75381 DCMD Deafness-nephritis-ano-rectal 2408 D-2-hydroxyglutaric acidemia 1653 DD malformation syndrome D-2-hydroxyglutaric aciduria 99789 DD-I 3230 Deafness-oligodontia syndrome D-glycerate dehydrogenase 99791 DD-II Deafness-onychodystrophydeficiency →231568 DDEB, Cockayne-Touraine type 79500 osteodystrophy-intellectual D-glycerate kinase deficiency disability syndrome 231568 DDEB, generalized D-glyceric acidemia Deafness-onychodystrophyDDEB, Pasini and Cockayne231568 D-glyceric aciduria 79500 osteodystrophy-intellectual Touraine types D-HUS disability-seizures syndrome →231568 DDEB, Pasini type D-HUS with anti-factor H antibodies 231568 DDEB-gen Deafness-onychoosteodystrophy79500 D-HUS with B factor anomaly intellectual disability syndrome 99970 DDLS D-HUS with C3 anomaly Deafness-opticoacoustic nerve 79499 DDOD syndrome →52368 D-HUS with DGKE deficiency atrophy-dementia syndrome 52368 DDON syndrome D-HUS with H factor anomaly Deafness-pili torti-hypogonadism 300536 DDOST-CDG 123 syndrome D-HUS with I factor anomaly 2962 De Barsy syndrome Deafness-skeletal dysplasia-coarse D-HUS with MCP/CD46 anomaly 3219 De Die-Smulders-Vles-Fryns 1130 face with full lips syndrome D-HUS with thrombomodulin syndrome Deafness-skeletal dysplasia-lip anomaly 1598 3219 De Grouchy syndrome granuloma syndrome DA1 →782 De Hauwere syndrome Deafness-small bowel diverticulosisDA1A 3217 →782 De Hauwere-Chitty syndrome neuropathy syndrome



48

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

293978

169150 404546 404546 158 679 315 1578 3202 64748 2318 1627 1627 401986 456298 1606 250989 250999 238769 293948 363680 261349 163693 369881 228402

Disease name

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 complement of terminal pathway Deficiency of IL-36R antagonist Deficiency of IL-36Ra Deficiency of plasma-membrane carnitine transporter Degos disease Degos genodermatosis "en cocardes" Dehydratase deficiency 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)

ORPHA number 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 284169 276413 893 444002 2308 2308 313884 280325 94063 289513 412035 1587 96168 261120 261144 264200 401935 261183 199318 261190 94065 261211 261236 352629 261250 97685 261265 363958

Disease name

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(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) Del(13)(q12.3) Del(13)(q14) Del(13)(q34) Del(14)(q11.2) Del(14)(q12) Del(14)(q22q23) Del(14)(q24.1q24.3) Del(15)(q11.2) Del(15)(q13.3) Del(15)(q14) Del(15)(q24) Del(16)(p11.2p12.2) Del(16)(p13.11) Del(16)(q24.1) Del(16)(q24.3) Del(17)(q11) Del(17)(q12) Del(17)(q21.31)

ORPHA number 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 284169 276413 893 94063 289513 1587 1590 1600 96123 1647 1647 79101 35664 231237 219 168782 97353 283 283 314451 79134 86903

Disease name

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 10p11.21p12.31 Deletion 10q22.3q23.3 Deletion 11p13 Deletion 12q14 Deletion 12q15q21.1 Deletion 13q14 Deletion 13q32 Deletion 18q Deletion 22 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



49

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

71267 77295 220 3177 3270 369950 96170 36397 1656 1266 31112 1659 221 1657 86920

Disease name

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 Dentinogenesis imperfecta-short stature-hearing loss-intellectual 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

ORPHA number 36426 1660 79149 141051 141046 99688 1916 1916 1425 1425 163703 228123 228123 98909 84132 98909 873 873 251940 83469 251863 35107 98852 158014 163703

313892

79157

289307

289307

289307 329195

329195

163988 79134

Disease name

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 Devastating epileptic encephalopathy in school-aged 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

ORPHA number 99989

2101

459061

79107 209908 71211 →3464 1014 403 1666 →244 99828 383 31112 49042 49042 166260 373 319651 139518 139525 139547 139536 98920 139589 357043 139552 75376 49042 166260 251940 3463

3464 1926 85446 85446 275523 66637 255182 2141

Disease name

Developmental delay-epilepsyneonatal diabetes syndrome, intermediate form Developmental delay-hypotoniaextremities hypertrophy syndrome Developmental delay-short staturedysmorphic features-sparse 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 dHMN6 dHMN7 dHMN with upper motor neuron signs dHMNJ DHRD DI 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 Diaphanospondylodysostosis Diaphorase deficiency Diaphragmatic defect-limb deficiency-skull defect syndrome



50


2143

98920 404521 1802 85182

85182

103909 97282 1671 628 628 276603

276598 2195 284343 180086 3463 370046 1672 1672 1672 1672 319192 1916 1916 146 90060 324 251595 404437

79456 79456

Disease name

Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome Diaphragmatic hernia-exomphaloshypertelorism syndrome Diaphragmatic herniahypertelorism-myopia-deafness syndrome Diaphragmatic spinal muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosismalignant fibrous histiocytoma syndrome Diarrhea-vomiting due to trehalase deficiency Diarrheogenic islet cell tumor Diastematomyelia Diastrophic dwarfism Diastrophic dysplasia Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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

ORPHA number 220393 220393 2199 2199 702 3165 300849 300888 252031 141209 141209 141209 168811 2123 86918

369999 2337 86918 171700 71274 66627 66627 567 567 238 141071

1305

391641

352487 31828 →79500 1146 294990 295114 973 294990 295114

Disease name

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 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 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 keratodermaacrocyanosis 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 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

ORPHA number 973 319651 79244

2394 255182

79244

226 38874 1675 38874 99102 99102 99101 99101 66634 2229 231111 243343 →3157 314002 1493 227 1679 128 1681 1681 1756 210115 166291 94064 35122 306446 306474 306436 306462 306486

Disease name

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 Dihydropteridine reductase deficiency Dihydropyrimidinase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilatation of the left 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 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



51

ORPHA number 90281 216694 99052 99051 90394 139420 210272 2412 8 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

Disease name

Discoid lupus erythematosus Discordant ventriculoarterial and atrioventricular connections Discrete fibromuscular subaortic stenosis Discrete fixed membranous subaortic stenosis Discrete papular lichen myxedematosus Disease-associated transverse myelitis Disembarkment syndrome Dislocation of the hip-dysmorphism syndrome Disomy Y 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

ORPHA number 178400 1146 2053 1147 376 65720 1154 329457 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

Disease name

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 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

ORPHA number 96098 96074 96100 96101 96102 96103 96105 1705 1707 96078 96106 3379 1716 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

Disease name

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 Distal duplication 16q Distal duplication 17q Distal duplication 18q 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



52

ORPHA number 1596 261222 261257 1597 96129 96152 261330 59135 399086 178400 34521 63273 602 600 602 609 603 98911 2776 18 →402041 →402041 93610 139525 139547 206580 139536 139589 3248 314588 609 96069 96070 96094 96071 96072 96096 96097 1745 96098 96074 261102 96100

Disease name


Disease name

Distal monosomy 15q Distal trisomy 9q Distal monosomy 16p11.2 Distal trisomy 10q 96103 Distal monosomy 17p13.3 Distal trisomy 11q 96105 Distal monosomy 17q Distal trisomy 13q 1705 Distal monosomy 19p13.3 Distal trisomy 14q 1707 Distal monosomy 20q Distal trisomy 15q 96078 Distal monosomy 22q11.2 Distal trisomy 16p 96106 Distal myopathy type 1 Distal trisomy 16q 3379 Distal myopathy type 3 Distal trisomy 17q 1716 Distal myopathy with anterior tibial Distal trisomy 18q onset 1717 Distal trisomy 19q Distal myopathy with early 96107 Distal trisomy 20q respiratory muscle involvement 96109 Distal trisomy 22q Distal myopathy with posterior leg 261337 Distal trisomy 22q11.2 and anterior hand involvement 293939 Distal trisomy Xq28 Distal myopathy with rimmed Distal Xq28 microduplication 293939 vacuoles syndrome Distal myopathy with vocal cord 98920 Distal-HMN type 6 weakness Distichiasis-congenital heart Distal myopathy, Nonaka type →33001 defects-peripheral vascular Distal myopathy, Udd type anomalies syndrome Distal myopathy, Welander type 1916 Distilbene embryofetopathy Distal myotilinopathy 1685 Distomatosis Distal osteolysis-short stature1685 Distomiasis intellectual disability syndrome 404546 DITRA Distal renal tubular acidosis 99099 Divided left atrium Distal renal tubular acidosis type 1b 99098 Divided right atrium Distal renal tubular acidosis type 1c 91131 DK1-CDG Distal renal tubular acidosis with 3439 DK phocomelia syndrome anemia 1775 DKC Distal spinal muscular atrophy type 300849 DLBCL of the CNS 2 300888 DLBCL with chronic inflammation Distal spinal muscular atrophy type 2394 DLD deficiency 3 252031 DLM Distal spinal muscular atrophy type 221 DM 4 273 DM1 Distal spinal muscular atrophy type 98896 DMD 5 Distal spinal muscular atrophy with 243343 DMG dehydrogenase deficiency 243343 DMGDH deficiency vocal cord paralysis 602 DMRV Distal symphalangism 99812 DNA ligase IV deficiency Distal tetrasomy 15q 251946 DNET Distal titinopathy DNMT3A-related overgrowth Distal trisomy 1p36 404443 syndrome Distal trisomy 2p 251975 DNT of the cerebellum Distal trisomy 2q 1215 DOA+ Distal trisomy 3p 447737 DOCK2 deficiency Distal trisomy 4p DOCK8 immunodeficiency Distal trisomy 4q 217390 syndrome Distal trisomy 5q Dol-P-mannosyltransferase Distal trisomy 6p 79322 deficiency Distal trisomy 6q 91131 Dolichol kinase deficiency Distal trisomy 7p 2616 Dolichospondylic dysplasia Distal trisomy 7q11.23 Distal trisomy 8q

ORPHA number 86309 3427 231226 75376 898 244305 276580 75376 90035 90035 2143 508 79500 79500 1942 70594 230 98907 3426 423712

99046 423693

99043 99045 99043 99045 869 216694 1464 141091 3427 3426 423712

→423693

99046

Disease name

Dolichyl-phosphate Nacetylgalactosamine phosphotransferase deficiency DOLV Dominant beta-thalassemia Dominant drusen Dominant hyaloideoretinal dystrophy of Wagner Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dominant KATP hyperinsulinism due to Kir6.2 deficiency Dominant radial drusen Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome Donnai-Barrow syndrome Donohue syndrome DOOR syndrome DOORS syndrome Doose syndrome Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Dorfman-Chanarin disease DORV DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy DORV with non-committed subpulmonary VSD DORV with subaortic or doubly committed VSD DORV with subaortic or doubly committed VSD with pulmonary stenosis DORV with subpulmonary VSD DORV, Fallot type DORV-TGA Double A syndrome Double discordance Double inlet left ventricle Double nose Double outlet left ventricle Double outlet right ventricle Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Double outlet right ventricle with doubly committed ventricular septal defect Double outlet right ventricle with non-committed subpulmonary ventricular septal defect



53

ORPHA number 423693

99043

→423693

99045

99045 99043 3286 3411 3411 8 95474 79145 870 75376 86309 314621 71274 79322 329178 263494 231 231 220 33069 →79500 70594 130 139402 101 233 18 →402041 →402041 93610 264978 139402 139402 90037

Disease name

ORPHA number

Disease name


Disease name

Double outlet right ventricle with Drug-induced autoimmune Dup(8)(q12) 90037 subaortic or doubly committed hemolytic anemia Dup(10)(q22.3q23.3) ventricular septal defect Drug-induced localized 300305 Dup(11)p(15.4) 90157 Double outlet right ventricle with lipodystrophy 261229 Dup(14)(q11.2) subaortic or doubly committed 231111 Drug-induced lupus erythematosus 238446 Dup(15)(q11q13) ventricular septal defect with 464453 Drug-induced methemoglobinemia 261204 Dup(16)(p11.2p12.2) pulmonary stenosis 251325 Drug-induced vasculitis 261243 Dup(16)(p13.11) Double outlet right ventricle with Drug-related renal tubular 96078 Dup(16)(p13.3) 97368 subaortic ventricular septal defect dysgenesis 477817 Dup(17)(p11.2p12) Double outlet right ventricle with 94086 Drummond syndrome 217385 Dup(17)(p13.3) subpulmonary ventricular septal 33069 DS 139474 Dup(17)(q11.2) defect 99887 DS-AMKL 261272 Dup(17)(q12) Double outlet right ventricle with 98920 dSMA1 217340 Dup(17)(q21.31) transposition of the great arteries 139525 dSMA2 261290 Dup(17p) Double outlet right ventricle, Fallot 139547 dSMA3 447980 Dup(19)(p13.13) type 206580 dSMA4 363659 Dup(20)(q11.2) Double tachycardia induced by 314485 dSMA5 261318 Dup(20p) catecholamines 139557 DSMAX 1727 Double uterus and obstructed Dup(22)(q11) 83469 DSRCT hemivagina syndrome 284180 Dup(X)(p22) DST-related epidermolysis bullosa Double uterus-hemivagina-renal 284180 Dup(X)(p22.13p22.2) 412181 simplex agenesis syndrome 314389 Dup(X)(q12-q13.3) 99789 DTDP1 Double Y 261483 Dup(X)(q27.3q28) 99791 DTDP2 Double-orifice mitral valve 261344 Duplication 1q 2639 Du Pan syndrome Dowling-Degos disease 1738 Duplication 4p Duane anomaly-myopathy-scoliosis Down syndrome 1742 Duplication 5p 50817 syndrome Doyne honeycomb retinal 264450 Duplication 8p 233 Duane retraction syndrome dystrophy 1752 Duplication 8q 233 Duane syndrome DPAGT1-CDG 96167 Duplication 8q/deletion 8p 93293 Duane-radial ray syndrome DPG-plus syndrome 236 Duplication 9p Duane-radial ray syndrome due to a DPL 261647 1699 Duplication 12p point mutation DPM1-CDG 1715 Duplication 18p Duane-radial ray syndrome due to DPM2-CDG 261638 1727 Duplication 22q11.2 monosomy 20q13 DPM3-CDG 261318 Duplication of 20p 234 Dubin-Johnson syndrome Dracunculiasis 314621 Duplication of the pituitary gland 234 Dubin-Sprinz disease Dracunculosis Duplication of the pituitary gland235 Dubowitz syndrome 314621 Drash syndrome plus syndrome 98896 Duchenne muscular dystrophy Dravet syndrome Duplication of the short arm of 280315 Duct-centric pancreatitis 1738 DRC syndrome chromosome 4 2442 Duncan disease DRD due to SRD Duplication of the short arm of 1742 2348 Dunnigan syndrome Dream disease chromosome 5 Duodenal and extrahepatic biliary DRESS syndrome Duplication of the short arm of 236 →293864 atresia-hypoplastic pancreaschromosome 9 DRPLA intestinal malrotation syndrome Duplication of the short arm of DRS 1715 1203 Duodenal atresia chromosome 18 dRTA 250994 Dup(1)(q21.1) 237 Duplication of urethra dRTA type 1b 313947 Dup(2)(q23.1) 284180 Duplication Xp22 dRTA type 1c 294026 Dup(2)(q31.1) 3306 Duplication/inversion 15q11 dRTA with anemia 96095 Dup(3)(q26) 97339 Dural sinus malformation Drug or radiation exposure-related 329802 Dup(5)(p13) 1656 Durhing-Brocq disease interstitial lung disease 228415 Dup(5)(q35) 233 DURS Drug rash with eosinophilia and 314034 Dup(7)(p22.1) →331176 Dursun syndrome systemic symptoms 96121 Dup(7)(q11.23) 98984 Drug reaction eosinophilic systemic Dusty cataract 459074 Dup(7)(q36.3) syndrome 3377 Dutch-Kentucky syndrome 251076 Dup(8)(p23.1p23.1) Drug-induced AIHA



54

ORPHA number →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 99082 1822 168621

Disease name

Dwarfism-stiff joint-ocular abnormalities syndrome Dwarfism-tall vertebrae syndrome DWM with postaxial polydactyly Dyggve-Melchior-Clausen disease Dykes-Markes-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 Dysembryoplastic neuroepithelial tumor Dysembryoplastic neuroepithelial tumor of cerebellum Dysequilibrium syndrome Dysgerminomatous germ cell cancer of 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 Dysphagia lusoria Dysplasia epiphysealis hemimelica Dysplasia of head of femur, Meyer type

ORPHA number 2204 65285 325 2476 156731 1865 1804 85198 71517 →98808 210571 98811 420492 420485 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 2394 231249 2970 40923 2554

Disease name

Dysplastic cortical hyperostosis Dysplastic gangliocytoma of the cerebellum Dysprothrombinemia Dysraphism-cleft lip/palate-limb reduction defects syndrome Dyssegmental dysplasia, RollandDesbuquois type Dyssegmental dysplasia, SilvermanHandmaker type Dyssegmental dysplasia-glaucoma syndrome Dysspondyloenchondromatosis Dystonia 12 Dystonia 14 Dystonia 16 Dystonia 18 Dystonia 23 Dystonia 24 Dystonia musculorum deformans Dystonia-aphonia syndrome Dystonia-parkinsonism, Paisan-Ruiz 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 E3-deficient maple syrup urine disease E-beta-thalassemia Eagle-Barret syndrome Eales disease Ear-patella-short stature syndrome

ORPHA number 1934

1934

369894 1935 1935 98988 98988 1020 98815 98985 1177 84132 1667 210571 289266

411986

1020 256 256 88660 324290 441452 79242 289377

439212 91492 98991 2828 2379

Disease name

Early infantile epileptic encephalopathy Early infantile epileptic encephalopathy with suppressionbursts Early infantile epileptic encephalopathy without suppression burst 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 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 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 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



55

ORPHA number 98992 98993 441447 256 157941

352654 →90340 96369 364055 313772 98985 256 1243 98890 98995 199343 391320 83594 83594 1973 166418 86880 79406 79405 319218 319218 319218 412181 412189 89838 79400 257 158681 79397 79401 158684 89839 1880 1880 313920 289661 313920 50944 284 199332

Disease name

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 neurodegeneration-blindnessataxia-spasticity syndrome Early-onset sarcoidosis Early-onset schizophrenia Early-onset severe retinal dystrophy Early-onset spastic ataxianeuropathy 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 seizures EATL EB progressive EBJ-I Ebola fever Ebola hemorrhagic fever Ebola virus disease EBS-AR BP230 EBS-AR exophilin 5 EBS-AR KRT14 EBS-loc EBS-MD EBS-migr 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 Eccrine tumors-ectodermal dysplasia Echinococcus multilocularis infection ECO syndrome

ORPHA number →1896 99102 99102 99101 99101 35737 →1071 69083 1809 1816 →1071 1818 →1658 140936 →2036 1806 3354 247827 1897

1812

1883 423454 158668 247820 448270 1885 1884 99889 231632 99889 95496 2440 →1896 →1896

Disease name

ECP syndrome Ectasia of the left 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 with skin anomalies and intellectual disability Ectodermal dysplasia, Berlin type Ectodermal dysplasia, Rapp-Hodgkin 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 Ectodermal dysplasia-cutaneous syndactyly syndrome Ectodermal dysplasia-ectrodactylymacular dystrophy syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-sensorineural deafness 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-cleft palate syndrome Ectrodactyly-ectodermal dysplasia without clefting syndrome

ORPHA number 1896 1892 1894 1997 906 98813 247827 293936 1895 93308 93307 93311 261 98863 98853 98855 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

Disease name

Ectrodactyly-ectodermal dysplasiacleft 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 EDMD1 EDMD2 EDMD3 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



56

ORPHA number 157965 230845 230857 247820 247820 247827 178464 3380 2668 322 1896 →1896 1897 357131 101039 2070 183 319218 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

Disease name

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 EGPA EHF 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

ORPHA number 230851 287 230839 1901 75501 75501 285 285 2953 300179 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

Disease name

Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, classic-like 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 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

ORPHA number 221054 289 2516 1299 1997 96170 439212 1942 3226 1914 180226 48736 48736 99757 178315 1664 983 139431 98863 261 1927 485418 83600 221126 2396 3205 1035

71277 79155 139406 833 210128 51

51

319678

Disease name

Elejalde syndrome Ellis Van Creveld syndrome Ellis-Yale-Winter syndrome Elsahy-Waters syndrome Elsching syndrome Emanuel syndrome EMARDD EMAS Emberger syndrome Embryofetopathy due to oral anticoagulant therapy Embryonal carcinoma Embryonal carcinoma of the central nervous system Embryonal carcinoma of the CNS Embryonal rhabdomyosarcoma Embryonal sarcoma of the liver Embryonary disorganization syndrome Embryonic testicular regression syndrome EMEA Emerinopathy 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 betamercaptolactate-cysteine disulfiduria 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



57

ORPHA number 1261 3205 296 99075 199332 876 252006 252006 98974 213741 213726 213716 213711 213746 213721 454723 2022 199323 209959 2790 85186

293936 137602 1937 53540 60015 83620 141071 86880 86880 85438 85438 1177 1177 370334 73247 1020 168829 449566 901

Disease name

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 Endometrial undifferentiated carcinoma Endometrioid carcinoma of ovary Endomyocardial fibroelastosis Endophthalmitis Endophthalmitis phacoanaphylactica Endosteal hyperostosis, Worth type 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

ORPHA number 402035 75566 2070 73247 3165 2070 2070 99871 183 482 364055 256 251880 251636 99169 185 231742 83314 35125 35125 302 46487 79404 412181 412189 158668 79400 89839 2325 158681 79397 257 158684 79396 79396 79399 79399

Disease name

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 lipodermoid-preauricular appendage-polythelia syndrome Epidemic typhus Epidermal hamartoma syndrome Epidermal nevus syndrome 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

ORPHA number 79401 79400 312 312 2199 2199 2199 141077 65683 86911 1942 1942

411986

1946 1948 1951 725

353217 79238 1819 1825 1824 1952 399329 399329 649 37612 97 79135 79136 211067 209967 209970 401953 37612 401953 79135

Disease name

Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolytic hyperkeratosis Epidermolytic ichthyosis 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 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 dysplasia-microcephalynystagmus syndrome Epiphyseal stippling syndromeosteoclastic hyperplasia 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



58

ORPHA number 53583 29822 93928 293381 103912 157791 293202 254698 91414 501 263516 163696 402082 280620 435438 424027 457265 79278 2199 →182050 313920 289661 85438 229 35687 293381 999 160148 →79500 222 228264 90000 231031 308473 308473 308473 308473 171690 308473 308473 314 79394 247165

Disease name

Episodic choreoathetosis/spasticity Episodic spontaneous hypothermia Epispadias Epithelial recurrent erosion dystrophy Epithelio-exfoliative colitis-deafness syndrome Epithelioid hemangioendothelioma Epithelioid sarcoma Epithelioid trophoblastic tumor Epithelioma calcificans of Malherbe EPM2 EPM3 EPM4 EPM5 EPM6 EPM7 EPM8 EPM9 EPP EPPK Epstein syndrome Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly ERA Erdheim disease Erdheim-Chester disease ERED Ermine phenotype Eroded polypoid hyperplasia Eronen-Somer-Gustafsson syndrome Erosive pustular dermatosis of the scalp Eruptive collagenoma Erythema elevatum diutinum Erythema palmare hereditarium Erythrocyte epimerase deficiency galactosemia Erythrocyte galactose epimerase deficiency Erythrocyte GALE deficiency Erythrocyte GALE-D Erythrocyte lactate transporter defect Erythrocyte UDP-galactose-4epimerase deficiency Erythrocyte uridine diphosphate galactose-4-epimerase deficiency Erythroderma desquamativum Erythrodermic ichthyosis Erythroedema polyneuritis

ORPHA number 315 316 317 171851 171851 317 1955 476096 50943 318 1956 280379 99977 2405 2990 2990 99976 1199 418945 100047 99977 99977 91138 2056 98981 91138 2843 98682 3318 3318 1957 785 3318 31826 51188 983 86880 2892 99172 466682 466682 1959 444463 2990 251927

Disease name

Erythrokeratoderma "en cocardes" Erythrokeratodermia progressiva symmetrica Erythrokeratodermia variabilis Erythrokeratodermia variabilis 3 Erythrokeratodermia variabilis, Kamouraska type 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 strabismus 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 EVMPS EVN

ORPHA number 319 99734 165991 165991 466650 289586 →955 116 1962 374 322 440724 3294 141074

3023

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

Disease name

Ewing sarcoma Exercise-induced delayed-onset myotonia Exercise-induced hyperinsulinemic hypoglycemia Exercise-induced hyperinsulinism Exercise-induced malignant hyperthermia Exfoliative ichthyosis Exner syndrome Exomphalos-macroglossia-gigantism syndrome Exostoses-anetodermiabrachydactyly type E syndrome Expanded spectrum of 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 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



59

ORPHA number 1964 251927 2725 3172 2985 139431 35909 957 95 324 1969 1167 141051 480701 480701 480701

→3157

1969

284169

466950

352712

2588

412022

412022

1970

Disease name

Extrasystoles-short staturehyperpigmentation-microcephaly syndrome Extraventricular neurocytoma Eye defects-arachnodactylycardiopathy syndrome Eyebrow duplication-syndactyly syndrome Eyebrows and eyelashes absenceintellectual disability 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 dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental 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 dysmorphism-macrocephalymyopia-Dandy-Walker malformation syndrome

ORPHA number 1778 221083 3020 3020 3020 85162 3237 1974 1300 2143 2048 374 1973 3071 915 915 269 269 269 98879 220436 98878 300359 306550 994 882 329308 →168569 3304 86814 397685 86 88619 733 261584 261584 261584 404 95700 95700

Disease name

Facial dysmorphism-shawl scrotumjoint laxity syndrome Facial hemispasm Facial nerve palsy due to herpes zoster infection Facial nerve palsy due to VZV Facial nerve paralysis due to VZV Facial onset sensory and motor neuronopathy Facio-audio-symphalangism Facio-digito-genital syndrome, Kuwait type Facio-genito-popliteal syndrome Facio-oculo-acoustico-renal syndrome Facio-pharyngo-glosso-masticatory diplegia Facioauriculovertebral dysplasia Faciocardiorenal syndrome Faciocutaneoskeletal syndrome Faciodigitogenital syndrome Faciogenital dysplasia Facioscapulohumeral dystrophy Facioscapulohumeral muscular dystrophy Facioscapulohumeral myopathy Factor IX deficiency Factor V Quebec Factor VIII deficiency FACU FADD-related immunodeficiency FADS FAH deficiency FAHN Faisalabad histiocytosis Fallot complex-intellectual disability-growth delay syndrome FAME Familial hyperprolactinemia Familial abdominal aortic aneurysm Familial acute necrotizing encephalopathy Familial adenomatous polyposis Familial adenomatous polyposis due to 5q22.2 microdeletion Familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to monosomy 5q22.2 Familial adrenal adenoma Familial adrenal hypoplasia with absent pituitary LH Familial adrenal hypoplasia with absent pituitary luteinizing hormone

ORPHA number 95700 86814 164736 98880 1020 280397 319465 85450 93560 238269 93562 93561

85447

85448 85448 228277 199279 91378 229 425 309020 309020 1416 334 615 436242 300359 404560 404560

404560

86820 2398 2841 1551 363989 405 405

Disease name

Familial adrenal hypoplasia, miniature type Familial adult myoclonic epilepsy 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 (Portuguese-SwedishJapanese Type) Familial amyloid polyneuropathy type IV 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 Familial benign hypocalciuric hypercalcemia



60

ORPHA number 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 95494 238722 451612 91498

Disease name

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 Familial congenital hypopituitarism Familial congenital mirror movements Familial congenital nasolacrimal duct obstruction Familial congenital palsy of trochlear nerve

ORPHA number 86814 319189 1416 85453 53296 313846 211 97345 97346 313808 1799 26106 26106 85169

300751 18 85192 75376 79142 1764 314381 412 98881 324588 404560 1885 2762 85110 101039 391384 391392

391389 90042 225968 85195 891 98820 314022

Disease name

Familial cortical myoclonic tremor and epilepsy Familial cortical myoclonus Familial CPPD Familial cutaneous amyloidosis Familial cutaneous collagenoma Familial cutaneous telangiectasia and oropharyngeal predisposition cancer 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 Dupuytren contracture 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 epilepsy and mental retardation limited to females 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 Familial expansile osteolysis Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial fundic gland polyposis with gastric cancer

ORPHA number 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 424 427 425 405 93372 101049 101050 248408 101041 440 225154

Disease name

Familial gastric type 1 neuroendocrine tumor Familial generalized lentiginosis Familial gestational hyperthyroidism Familial glucocorticoid deficiency Familial gonadotropin-independent 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 Familial hypoaldosteronism 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



61


93214

93217

93213

93213

93216

225154 300373 448348 448372 448372

300547 352582 352582 225154 225154 2454 2300 231160 217656 217656 217656

293899

Disease name

Familial idiopathic dilatation of the right atrium Familial idiopathic nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Familial idiopathic steroid-resistant 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 Familial intestinal malrotation-facial 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

ORPHA number 293910

293888

293910

217656

293899

293910

293888

293910 217656 217656 295014 101351 154 99879 2238

2239

189466 314777 397685 75249 411788 96 2295 2295 180176 209886 180176 209886

Disease name

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 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

ORPHA number 217330 493 293936 3267 79293 523 523 523 231040 871 871 871 309015 768 75381 3000 401942 342 99361 35858 618 165805 741 276399 99361 276399 35909 523 338 500

231040 199276 263662 624 624 867 922 209886 424

Disease name

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 MTC Familial multinodular goiter 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



62

ORPHA number 306658 280403 154 75249 569

443236 435329 251262 2769 2801 86820

79093 1333 1333 319487 97290 99877 99878 97 98809 342 228140 98820 79084 2348 79083 2348 79084 466729 871 93333 29072 98809 71290

Disease name

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 Familial paroxysmal polyserositis 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

ORPHA number 71290

330061 733 261584 99810 443062

2196

31043

34527

353220 2257

65748

871 871 280628 79146 313808 1767 1331 90044 →3202 2989 275777 319487 1675 79147 46348 69126 2809 85450

Disease name

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 pulmonary hypoplasia 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 Familial progressive subcortical gliosis Familial progressive vestibulocochlear dysfunction Familial prostate cancer Familial pseudohyperkalemia Familial pseudohyperkalemia type 1 Familial pterygium of the conjunctiva Familial pulmonary arterial hypertension Familial pure nonmedullary thyroid carcinoma Familial pyrimidinemia Familial reactive perforating collagenosis Familial rectal pain Familial recurrent arthritis Familial recurrent peripheral facial palsy Familial renal amyloidosis

ORPHA number 93560 238269 93561 69076 284247 231108 →168569 168624 171839 3135 3135 481986 →168569 51083 166282 →168569 166282 300345 3135 2903 3197 280406

1325 2456 370034 300345 91387 98819 91387 71493 71493 329319 3324 93953 95716 53372 93583 53715 289365 2604

Disease name

Familial renal amyloidosis due to apolipoprotein A-I variant Familial renal amyloidosis due to apolipoprotein A-II variant Familial renal amyloidosis due to lysozyme variant Familial renal glucosuria Familial retinal arterial macroaneurysm Familial rhabdoid tumor Familial Rosaï-Dorfman disease Familial scaphocephaly syndrome, McGillivray type Familial scaphocephaly-radioulnar synostosis syndrome Familial Scheuermann disease Familial Scheuermann juvenile kyphosis Familial schizencephaly Familial SHML Familial short QT syndrome Familial sick sinus syndrome Familial sinus histiocytosis with massive lymphadenopathy Familial sinus node dysfunction Familial SLE Familial spinal osteochondrosis Familial spontaneous pneumothorax Familial startle disease Familial steroid-resistant nephrotic syndrome with sensorineural deafness Familial streblodactyly with aminoaciduria Familial supernumerary nipples Familial syringomyelia Familial systemic lupus erythematosus Familial TAAD Familial temporal 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



63

ORPHA number 2808 289365 170 170 404560 404560 84 84 →2697 2088 733 261584 2792 333 333 99906 1915 3261 1915 164736 166105

439854

439854 439854 466 1561 1561 1561

166073

166063 →370114 289527 280553

289527

289527

Disease name

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 Fatal congenital hypertrophic cardiomyopathy due to glycogenosis Fatal congenital hypertrophic cardiomyopathy due to GSD Fatal familial insomnia Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency Fatal infantile COX deficiency Fatal infantile cytochrome C oxidase deficiency Fatal infantile encephalopathy with mitochondrial respiratory chain defects Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Fatal infantile encephalopathypulmonary hypertension syndrome Fatal infantile HCM due to mitochondrial complex I deficiency Fatal infantile hypertonic myofibrillar myopathy Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Fatal infantile hypertrophic cardiomyopathy due to NADHcoenzyme Q reductase deficiency

ORPHA number 289527

17

168566

168566 401869 401874 363424 457406 391343 480773 816 329308 2064 →97229 405 405 404451 47045 247868 440437 98970 268961 268973 268980 268987 268994 269001 269008 272 86814 99654 3071 47045 324 324588 26106 412022 163703 98974

Disease name

Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Fatal mitochondrial disease due to COXPD3 Fatal multiple mitochondrial dysfunctions syndrome type 1 Fatal multiple mitochondrial dysfunctions syndrome type 2 Fatal multiple mitochondrial dysfunctions syndrome type 3 Fatal mutiple mitochondrial dysfunctions syndrome type 4 Fatal post-viral neurodegenerative disorder FATCO syndrome Fatty acid alcohol oxidoreductase deficiency Fatty acid hydroxylase-associated neurodegeneration Faulk-Epstein-Jones syndrome Fazio-Londe disease FBH FBHH FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome FCAS FCAS2 FCCTX FCD FCD type I FCD type Ia FCD type Ib FCD type Ic FCD type II FCD type IIa FCD type IIb FCMD FCMTE FCPD FCS syndrome FCU FD FDFM FDGC FDLAB syndrome Febrile infection-related epilepsy syndrome FECD

ORPHA Disease name number →182050 Fechtner syndrome 79292 FED 247165 98969 1192 1305 391641 391646 53693 47612 404466 2973 2975 101039 1987 295067 295065 399329 1988 1987 295067 295065 1988 294977 295091 295089 2019 2019 2019 60015 85110 1184 45358 391384 65748 2180 157846 397922 139491 40366

Feer disease Fehr corneal dystrophy Feigenbaum-Bergeron-Richardson syndrome Feingold syndrome Feingold syndrome type 1 Feingold syndrome type 2 Fellman disease Felty syndrome Female infertility due to zona pellucida defect Female pseudohermaphroditismanorectal anomalies syndrome Female pseudohermaphroditismskeletal anomalies syndrome Female restricted epilepsy with intellectual disability Femoral agenesis/hypoplasia Femoral agenesis/hypoplasia, bilateral Femoral agenesis/hypoplasia, unilateral Femoral head epiphysiolysis Femoral hypoplasia-unusual facies syndrome Femoral intercalary meromelia Femoral intercalary meromelia, bilateral Femoral intercalary meromelia, unilateral Femoral-facial syndrome 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



64

ORPHA number 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 1906 1906 1914 166068 95431 69063 464724

163703 891 254492 398166 79133 398173 1807 398189 79133 398173 1807 398189 98820

Disease name

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 Fetal valproate syndrome Fetal valproic acid syndrome Fetal warfarin syndrome Fetal-onset olivopontocerebellar hypoplasia Feto-fetal transfusion syndrome Fetomaternal alloimmunization with antenatal glomerulopathies Fever-associated acute infantile liver failure syndrome Fever-induced refractory epileptic encephalopathy in school-aged children FEVR FFA FFDD FFDD1 FFDD2 FFDD3 FFDD4 FFDD type I FFDD type II FFDD type III FFDD type IV FFEVF

ORPHA number 1988 2019 93932 313855 1305 391641 391646 403 404 251274 403 404 251274 →168569 401920 405 93372 101049 101050 99763 99764 2196 31043 263479 397618 1988 251601 331 93562 439881 477650 99654 99654 2021 337 122 401920 401920 79105 84090 2030 63999 249 2639 1118

Disease name

FFS FFU complex FG syndrome type 1 FGFR2-related bent bone dysplasia FGLDS FGLDS1 FGLDS2 FH1 FH2 FH3 FH-I FH-II FH-III FHC FHCC FHH FHH type 1 FHH type 2 FHH type 3 FHHA1 FHHA2 FHHNC with severe ocular involvement FHHNC without severe ocular involvement FHI FHONDA syndrome FHUFS Fibrillary astrocytoma Fibrin-stabilizing factor deficiency 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

ORPHA number 480773 1757 93323 295083 295081 2854 93323 295083 295081 2256 79306 29207 29207 2756 99879 3255 352712 352582 1272 369979 97232 209335 2036 839 609 399086 1825 314777 163703 141136 141013 141013 141013 79292 98919 840 2823 2824 2820 293812 3092 209886

Disease name

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 Finnish congenital nephrosis Finnish tibial muscular dystrophy 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



65

ORPHA number 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 352587 398166 79133 398173 1807 398189 79133 79133 398173 1807 398189 398189 221083 48918 48918 2200 2200 370002 443804

Disease name

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 disabilitycerebro-cerebellar malformation Focal epilepsy-intellectual disabilitydysarthria-ataxia syndrome Focal facial dermal dysplasia 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

ORPHA number 443804 79093 2048 79097 113 79459 300552 86902 69745 2112 525 545 300552 243 79100 178512 228371 3454 337 60015 366 141071 51208 51208 3238 3238 178333 178333 85162 3219 141037 141037 141037 397618

2253 221126 2795 1799 275777 71290 280628

Disease name

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 hamartoma-alopeciacystic fibrosis syndrome 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 Foramina parietalia permagna Forbes disease 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 FOXP2-associated dysphasia FPAH FPD/AML syndrome FPHH

ORPHA number 353220 79084 2348 79083 280356 435651 435660 71290 313808 69126 908 93256 284247 861 2523 137834 100026 2108 79149 98970 2052 →2052 347 908 908 100973 100974 95 834 309324 2053 1147 2673 2723 →264200 85335 2487 1969 95 96 99672 1931 254492 1791 1826 141168 228390

Disease name

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 Fraser-like syndrome Frasier syndrome FraX syndrome FRAXA syndrome FRAXE intellectual disability FRAXF syndrome FRDA Free sialic acid storage disease Free sialic acid storage disease, infantile form Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Freire Maia-Pinheiro-Opitz syndrome Freire-Maia syndrome Frias syndrome Fried syndrome Fried-Goldberg-Mundel syndrome Friedman-Goodman syndrome Friedreich ataxia Friedreich-like ataxia Fried's tooth and nail syndrome Frontal encephalocele Frontal fibrosing alopecia Frontofacionasal dysplasia Frontometaphyseal dysplasia Frontonasal arteriovenous malformation Frontonasal dysplasia with alopecia and genital abnomality



66

ORPHA number 228390

306542 391474 275872 275872 293848 2141 2215 2056 348 2057 2429 1104 2059 →2995 2497 2058 1305 391641 391646 269 243 269 51208 275872 275872 247790 247790 98974 263479 349 2854 2854 →85199 551 272 90062 35063 24 24 882 882

Disease name

Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporal dementia with motor neuron disease Frontotemporal dementia, right temporal atrophy variant Froster-Huch syndrome Froster-Iskenius-Waterson-Hall syndrome Fructokinase deficiency Fructose-1,6-bisphosphatase deficiency Frydman-Cohen-Karmon syndrome Fryns macrocephaly Fryns microphthalmia syndrome Fryns syndrome Fryns-Aftimos syndrome 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

ORPHA number 622 308380 2169 2170 91348 91348 227796 827 99004 207000 →60030 2579 591 591 591 228119 228119 2287 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

Disease name

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 Furunculoid myiasis Furunculous myiasis Fusariosis Fusarium infection Fused mandibular incisors 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

ORPHA number 79237 79237 100086 2065 2065 309297 79239 2325 3035 2066 212 33573 33574 100026 100026 22 353 682 682 382 643 251937 251949 251877 251992 2067 314022 3469 79665 324636 2075 99000 314022 423781 141071 332 36273 100075 481469 481475 481478 481481 418959 913

Disease name

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 Gamma-HCD Gamma-heavy chain disease 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 neuroendocrine tumor type 1 Gastric neuroendocrine tumor type 2 Gastric neuroendocrine tumor type 3 Gastric neuroendocrine tumor type 4 Gastric squamous cell carcinoma Gastrinoma



67


2930 44890 44890 2368 355 77259 77260 77261 2072 77261

2072 2072 308712 308684 308698 308670 308655 308638 308621 360 98916 329984 98962 98963 25 98962 98963 438274 528 228429 2095 380 363976 98957 53697 366 324636 36387

Disease name

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 GBE deficiency, childhood combined hepatic and myopathic 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+

ORPHA number 411777 26790 98957 2623 2623 2073 85448 2074 251604 2084 51608 79402 168632 98806 528 228429 228429 263543 263548 263553 263558 231568 79399 99647 79399 36387 79137 308487 157991 157991 411777 411777 280774 36236 1041 308487 308487

Disease name

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 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


79402

329971 167635

435628 141209 89842 167635 263543 263548 263553 263558 171876 263543 247353 3221 308487 308487 254704 99845 226316 2075 85201 2163 85197 93398 329813 1454 217008 98961 35686 79137 99095 2808

Disease name

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 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 Genito-palato-cardiac 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 Gerbode defect Gerhardt syndrome



68

ORPHA number 213837 213751 2077 91352 2078 1117 221117 356 99926 63275 280774 84090 314769 633 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 1535 213833

Disease name

ORPHA number

Disease name

Germ cell cancer of cervix uteri Glaucoma secondary to 238763 spherophakia/ectopia lentis and Germ cell cancer of corpus uteri megalocornea German syndrome Glaucoma-ectopiaGerminoma of the central nervous 2084 microspherophakia-stiff joints-short system stature syndrome Geroderma osteodysplastica 2085 Glaucoma-sleep apnea syndrome Gershoni-Baruch-Leibo syndrome 354 GLB1 deficiency Gerstmann syndrome 360 Glioblastoma Gerstmann-Straussler-Scheinker 360 Glioblastoma multiforme syndrome 269197 Glioependymal/ependymal cyst Gestational choriocarcinoma 251582 Gliomatosis cerebri Gestational pemphigoid 251576 Gliosarcoma GET Global developmental delay-lung GFND 404476 cysts-overgrowth-Wilms tumor GH and PRL cosecreting pituitary syndrome adenoma Global developmental delayGH receptor deficiency 73223 osteopenia-ectodermal defect Ghosal hematodiaphyseal dysplasia syndrome Ghosal syndrome Global developmental delay-visual Ghost teeth 480898 anomalies-progressive cerebellar Ghrelin receptor deficiency atrophy-truncal hypotonia syndrome Giant adenofibroma of the breast 2791 Globodontia Giant axonal neuropathy 487 Globoid cell leukodystrophy Giant cell arteritis 83454 Glomangiomatosis Giant cell chondrodysplasia Glomerulonephritis-sparse hair→69735 Giant cell glioblastoma telangiectasis syndrome Giant cell histiocytomatosis Glomerulopathy with fibronectin 84090 Giant cell tumor of bone deposits Giant congenital melanocytic nevus 391651 Glomus tumor Giant hypertrophic gastritis 83454 Glomuvenous malformation Giant pigmented hairy nevus 2616 Gloomy face syndrome Giant platelet syndrome 141163 Glossopalatine ankylosis Gillespie syndrome 221098 Glossopharyngeal neuralgia Gingival fibromatosis-facial 221098 Glossovasopharyngeal neuralgia dysmorphism syndrome 404476 GLOW syndrome Gingival fibromatosis255132 GLRX5-related sideroblastic anemia hepatosplenomegaly-other 97280 Glucagonoma anomalies syndrome 97280 Glucagonoma syndrome Gingival fibromatosis-hypertrichosis 355 Glucocerebrosidase deficiency syndrome 786 Glucocorticoid resistance Gingival fibromatosis-progressive Glucocorticoid-remediable deafness syndrome 403 aldosteronism Gingival hypertrophy-corneal Glucocorticoid-sensitive dystrophy 403 hypertension GIST Glucosamine N-acetyl-6-sulfatase 79272 GIST-paraganglioma dyad deficiency Gitelman syndrome Glucose transporter type 1 71277 Giuffré-Tsukahara syndrome deficiency GLA 35710 Glucose-galactose malabsorption Glanzmann thrombasthenia 79330 Glucosidase 1 deficiency Glass bone disease 79320 Glucosyltransferase 1 deficiency Glass-Chapman-Hockley syndrome 79325 Glucosyltransferase 2 deficiency Glassy cell carcinoma of the cervix 71277 Glut1-DS uteri 71277 Glut-1 deficiency Syndrome

ORPHA number 51208 2195 33574 25 26791 35706 25 26791 394532 394529 35706 25 35706 25 32 289846 289849 33573 284414 284408 284411 261476 255182 407 289891 365

308552

420429 57 364 79258 79259 364

Disease name

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 Glutaric aciduria type 2 Glutaric aciduria type 2, mild type 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



69

ORPHA number 79258

79259

2088

367

308712

308684

308698

308670

308655

308638

308621

366

2089 2364

284435

284426

34587

79240

Disease name

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 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

ORPHA number 369

2089

264580

137625

99849

368

371

715

→319646

713

97234 2089 137625 364 79258 79259 →79259 →79259 365 308552 420429 366 367 308712

308684

308698 308670 308655 308638

Disease name

ORPHA number

Disease name

Glycogen storage disease due to Glycogen storage disease type 4, 308621 liver glycogen phosphorylase progressive hepatic form deficiency 368 Glycogen storage disease type 5 Glycogen storage disease due to 369 Glycogen storage disease type 6 liver glycogen synthase deficiency 371 Glycogen storage disease type 7 Glycogen storage disease due to 264580 Glycogen storage disease type 9A liver phosphorylase kinase 79240 Glycogen storage disease type 9B deficiency 264580 Glycogen storage disease type 9C Glycogen storage disease due to 715 Glycogen storage disease type 9D muscle and heart glycogen synthase 715 Glycogen storage disease type 9E deficiency 2088 Glycogen storage disease type 11 Glycogen storage disease due to 284426 Glycogen storage disease type 11 muscle beta-enolase deficiency 57 Glycogen storage disease type 12 Glycogen storage disease due to →319646 Glycogen storage disease type 14 muscle glycogen phosphorylase 263297 Glycogen storage disease type 15 deficiency 364 Glycogen storage disease type I Glycogen storage disease due to 79259 Glycogen storage disease type Ib muscle phosphofructokinase 365 deficiency Glycogen storage disease type II Glycogen storage disease due to Glycogen storage disease type II, 308552 muscle phosphorylase kinase infantile onset deficiency Glycogen storage disease type II, 420429 Glycogen storage disease due to late onset phosphoglucomutase deficiency 366 Glycogen storage disease type III Glycogen storage disease due to 367 Glycogen storage disease type IV phosphoglycerate kinase 1 Glycogen storage disease type IV, 308712 deficiency adult neuromuscular form Glycogen storage disease due to Glycogen storage disease type IV, phosphoglycerate mutase deficiency 308684 childhood combined hepatic and Glycogen storage disease type 0a myopathic form Glycogen storage disease type 0b Glycogen storage disease type IV, 308698 Glycogen storage disease type 1 childhood neuromuscular form Glycogen storage disease type 1a Glycogen storage disease type IV, 308670 congenital neuromuscular form Glycogen storage disease type 1b Glycogen storage disease type IV, Glycogen storage disease type 1C 308655 fatal perinatal neuromuscular form Glycogen storage disease type 1D Glycogen storage disease type IV, Glycogen storage disease type 2 308638 non progressive hepatic form Glycogen storage disease type 2, Glycogen storage disease type IV, infantile onset 308621 progressive hepatic form Glycogen storage disease type 2, 264580 Glycogen storage disease type IXa late onset 79240 Glycogen storage disease type IXb Glycogen storage disease type 3 264580 Glycogen storage disease type IXc Glycogen storage disease type 4 715 Glycogen storage disease type IXd Glycogen storage disease type 4, 715 Glycogen storage disease type IXe adult neuromuscular form 368 Glycogen storage disease type V Glycogen storage disease type 4, 369 childhood combined hepatic and Glycogen storage disease type VI myopathic form 371 Glycogen storage disease type VII Glycogen storage disease type 4, 2088 Glycogen storage disease type XI childhood neuromuscular form 57 Glycogen storage disease type XII Glycogen storage disease type 4, →319646 Glycogen storage disease type XIV congenital neuromuscular form 263297 Glycogen storage disease type XV Glycogen storage disease type 4, Glycogen storage disease with fatal perinatal neuromuscular form 263297 severe cardiomyopathy due to Glycogen storage disease type 4, glycogenin deficiency non progressive hepatic form



70

ORPHA number 365 308552 57 79258 79259 79258

79259

2088 367

308712

308684

308698

308670

308655

308638

308621

366 2364 284435 284426 34587

79240

369

Disease name

Glycogenosis due to acid maltase deficiency Glycogenosis due to acid maltase deficiency, infantile onset 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

ORPHA number 264580 137625 99849 368 371 715 →319646

713

97234 2089 137625 364 79259 365 308552 420429 366 367 308712

308684

308698 308670 308655 308638 308621 368 369 371 264580 79240 264580 715 715 284426 57 99849 →319646

Disease name


Disease name

Glycogenosis due to liver Glycogenosis type 15 phosphorylase kinase deficiency Glycogenosis type I Glycogenosis due to muscle and 79258 Glycogenosis type Ia heart glycogen synthase deficiency 79259 Glycogenosis type Ib Glycogenosis due to muscle beta365 Glycogenosis type II enolase deficiency 308552 Glycogenosis type II, infantile onset Glycogenosis due to muscle 420429 Glycogenosis type II, late onset glycogen phosphorylase deficiency 366 Glycogenosis type III Glycogenosis due to muscle 367 Glycogenosis type IV phosphofructokinase deficiency Glycogenosis type IV, adult 308712 Glycogenosis due to muscle neuromuscular form phosphorylase kinase deficiency Glycogenosis type IV, childhood Glycogenosis due to 308684 combined hepatic and myopathic phosphoglucomutase deficiency form Glycogenosis due to Glycogenosis type IV, childhood 308698 phosphoglycerate kinase 1 neuromuscular form deficiency Glycogenosis type IV, congenital 308670 Glycogenosis due to neuromuscular form phosphoglycerate mutase deficiency Glycogenosis type IV, fatal perinatal 308655 Glycogenosis type 0a neuromuscular form Glycogenosis type 0b Glycogenosis type IV, non 308638 Glycogenosis type 1 progressive hepatic form Glycogenosis type 1b Glycogenosis type IV, progressive 308621 Glycogenosis type 2 hepatic form Glycogenosis type 2, infantile onset 264580 Glycogenosis type IXa Glycogenosis type 2, late onset 79240 Glycogenosis type IXb Glycogenosis type 3 264580 Glycogenosis type IXc Glycogenosis type 4 715 Glycogenosis type IXd Glycogenosis type 4, adult 715 Glycogenosis type IXe neuromuscular form 368 Glycogenosis type V Glycogenosis type 4, childhood 369 Glycogenosis type VI combined hepatic and myopathic 371 Glycogenosis type VII form 57 Glycogenosis type XII Glycogenosis type 4, childhood →319646 Glycogenosis type XIV neuromuscular form 263297 Glycogenosis type XV Glycogenosis type 4, congenital Glycogenosis with severe neuromuscular form 263297 cardiomyopathy due to glycogenin Glycogenosis type 4, fatal perinatal deficiency neuromuscular form 93598 Glycolic aciduria Glycogenosis type 4, non 354 GM1 gangliosidosis progressive hepatic form 79255 GM1 gangliosidosis type 1 Glycogenosis type 4, progressive 79256 GM1 gangliosidosis type 2 hepatic form 79257 GM1 gangliosidosis type 3 Glycogenosis type 5 796 GM2 gangliosidosis 0 variant Glycogenosis type 6 309246 GM2 gangliosidosis, AB variant Glycogenosis type 7 GM2 gangliosidosis, B variant, adult Glycogenosis type 9A 309192 form Glycogenosis type 9B GM2 gangliosidosis, B variant, Glycogenosis type 9C 309178 infantile form Glycogenosis type 9D GM2 gangliosidosis, B variant, 309185 Glycogenosis type 9E juvenile form Glycogenosis type 11 845 GM2 gangliosidosis, B, B1 variant Glycogenosis type 12 309239 GM2 gangliosidosis, B1 variant Glycogenosis type 13 101006 GM2 synthase deficiency Glycogenosis type 14 626 GMN



71

ORPHA number 2090 53697 602 100075 481469 481475 481478 481481 79272 329984 329984 329984 329984 705 373 351 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

Disease name


Disease name


Disease name

GMS syndrome Gorlin-Goltz syndrome Griscelli disease type 2 Gnathodiaphyseal dysplasia GOSHS Griscelli disease type 3 381 GNE myopathy GOSR2-related progressive Griscelli-Pruniéras syndrome 280620 myoclonus ataxia 79476 GNET Griscelli-Pruniéras syndrome type 1 2500 Gottron syndrome 79477 GNET type 1 Griscelli-Pruniéras syndrome type 2 59135 Gowers disease 79478 GNET type 2 Griscelli-Pruniéras syndrome type 3 900 GPA GNET type 3 Grix-Blankenship-Peterson 2099 280586 gPAPP deficiency syndrome GNET type 4 247353 GPP 3217 Groll-Hirschowitz syndrome GNS deficiency 721 GPS Gronblad-Strandberg-Touraine Goblet cell adenocarcinoid 758 syndrome 313808 GPSC Goblet cell carcinoid 314613 Growing teratoma syndrome 403 GRA Goblet cell carcinoma Growth and developmental delay2763 Gracile bone dysplasia Goblet cell tumor 391348 hypotonia-vision impairment-lactic 53693 GRACILE syndrome Goiter-deafness syndrome acidosis syndrome 39812 Graft versus host disease Golabi-Rosen syndrome Growth deficiency-brachydactyly505 Graham Little syndrome Goldberg syndrome →264200 dysmorphism syndrome Graham Little-Piccardi-Lassueur Goldberg-Shprintzen megacolon 505 Growth delay due to insulin-like syndrome syndrome 73273 growth factor I resistance 2111 Graham-Boyle-Troxell syndrome Goldblatt chondrodysplasia Growth delay due to insulin-like 52055 Graham-Cox syndrome 73272 Goldblatt syndrome growth factor type 1 deficiency →247691 Grand-Kaine-Fulling syndrome Goldblatt-Viljoen syndrome Growth delay-alopecia79094 Grange occlusive arterial syndrome Goldblatt-Wallis syndrome 2067 pseudoanodontia-optic atrophy 79094 Grange syndrome Goldenhar syndrome syndrome 2097 Grant syndrome Goldmann-Favre syndrome Growth delay-aminoaciduria98962 Granular corneal dystrophy type 1 Goldston syndrome 53693 cholestasis-iron overload-lactic 98963 Granular corneal dystrophy type 2 Gollop syndrome acidosis-early death syndrome 98961 Granular corneal dystrophy type 3 Gollop-Wolfgang complex Growth delay-deafness- intellectual 73272 98962 Granular corneal dystrophy type I Goltz syndrome disability syndrome 98963 Granular corneal dystrophy type II Goltz-Gorlin syndrome Growth delay-hydrocephaly-lung 3035 hypoplasia syndrome Gómez-López-Hernández syndrome 98961 Granular corneal dystrophy type III 98963 Granular-lattice corneal dystrophy Growth hormone and prolactin Gonadoblastoma 314769 cosecreting pituitary adenoma 86850 Granulocytic sarcoma Gonadotropic deficiency Growth hormone receptor 900 Granulomatosis with polyangiitis Gonadotropin-dependant 633 deficiency 183 precocious puberty Granulomatous allergic angiitis Growth hormone releasing factor Gonadotropin-independent female- 64722 Granulomatous mastitis 97261 tumor limited sexual precocity 33111 Granulomatous slack skin Growth restriction-aminoaciduriaGoniodysgenesis-intellectual 99915 Granulosa cell cancer 53693 cholestasis-iron overload-lactic disability-short stature syndrome 99915 Granulosa cell malignant tumor acidosis-early death syndrome Gonococcal conjunctivitis 35858 Gräsbeck-Imerslund disease Growth retardation-mild Gonzales-del Angel syndrome 69665 Gravidic intrahepatic cholestasis 391366 developmental delay-chronic Good syndrome 721 Gray platelet syndrome hepatitis syndrome Goodman camptodactyly Grayson-Wilbrandt corneal Grubben-de Cock-Borghgraef 293375 2101 Goodman syndrome dystrophy syndrome Goodpasture syndrome 276405 Green jaundice 411777 Grzybowski syndrome Goossens-Devriendt syndrome 99826 Green monkey disease 365 GSD due to acid maltase deficiency Gordon hyperkalemia-hypertension 1426 Greenberg dysplasia GSD due to acid maltase deficiency, 308552 syndrome Greig cephalopolysyndactyly infantile onset 380 Gordon syndrome syndrome GSD due to acid maltase deficiency, 420429 Gordon-Holmes syndrome 495 Greither disease late onset Gorham disease 97261 GRF tumor 57 GSD due to aldolase A deficiency Gorham syndrome 97261 GRFoma 364 GSD due to G6P deficiency Gorham-Stout disease 139474 Grisart-Destrée syndrome 79258 GSD due to G6P deficiency type 1a Gorlin syndrome 381 Griscelli disease 79258 GSD due to G6P deficiency type Ia Gorlin-Chaudhry-Moss syndrome 79476 Griscelli disease type 1 79259 GSD due to G6P deficiency type Ib



72


308712

308684

308698

308670

308655

308638

308621

366 2089 2364 284435 284426 34587 79240 369 264580 137625 99849 368 371 715 →319646

Disease name

GSD due to G6PT deficiency 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 GSD due to phosphoglucomutase deficiency

ORPHA number 713 97234 2089 137625 364 79259 79258 79259 365 308552 420429 366 367 308712 308684 308698 308670 308655 308638 308621 368 369 371 264580 79240 264580 715 715 97234 2088 284426 57 →319646 263297 364 79259 365 308552 420429 367 264580 79240 264580 715 715

Disease name


Disease name

GSD due to phosphoglycerate GSD type V kinase 1 deficiency GSD type VI GSD due to phosphoglycerate 371 GSD type VII mutase deficiency 2088 GSD type XI GSD type 0a 57 GSD type XII GSD type 0b 263297 GSD type XV GSD type 1 GSD with severe cardiomyopathy 263297 GSD type 1 non a due to glycogenin deficiency GSD type 1a 79258 GSDIa GSD type 1b 79259 GSDIb GSD type 2 366 GSDIII GSD type 2, infantile onset 308712 GSDIV, adult neuromuscular form GSD type 2, late onset GSDIV, childhood combined hepatic 308684 and myopathic form GSD type 3 GSD type 4 GSDIV, childhood neuromuscular 308698 form GSD type 4, adult neuromuscular form GSDIV, congenital neuromuscular 308670 form GSD type 4, childhood combined hepatic and myopathic form GSDIV, fatal perinatal 308655 neuromuscular form GSD type 4, childhood neuromuscular form GSDIV, non progressive hepatic 308638 form GSD type 4, congenital 308621 GSDIV, progressive hepatic form neuromuscular form 99849 GSD type 4, fatal perinatal GSDXIII neuromuscular form →319646 GSDXIV GSD type 4, non progressive hepatic 2102 GTP cyclohydrolase I deficiency form GTPCH1-deficient dopa-responsive 98808 GSD type 4, progressive hepatic dystonia form 98808 GTPCH1-deficient DRD GSD type 5 2102 GTPCH deficiency GSD type 6 90020 Guam disease GSD type 7 319234 Guanarito hemorrhagic fever GSD type 9A Guanidinoacetate 382 GSD type 9B methyltransferase deficiency GSD type 9C 2785 Guibaud-Vainsel syndrome GSD type 9D Guillain-Barré syndrome, acute 98916 inflammatory demyelinating GSD type 9E polyradiculoneuropathic form GSD type 10 231 Guinea worm disease GSD type 11 Guízar Vázquez-Luengas-Muñoz GSD type 11 1661 syndrome GSD type 12 Guízar Vázquez-Sánchez-Manzano GSD type 14 2104 syndrome GSD type 15 1562 Gunal-Seber-Basaran syndrome GSD type I 79277 Günther disease GSD type Ib 1858 Gurrieri-Sammito-Bellussi syndrome GSD type II Guttate hypopigmentation and GSD type II, infantile onset 324561 punctate palmoplantar keratoderma GSD type II, late onset 2957 Guttmacher syndrome GSD type IV 39812 GVH GSD type IXa 293375 GWCD GSD type IXb 99914 Gynandroblastoma GSD type IXc Gyrate atrophy of choroid and GSD type IXd 414 retina GSD type IXe 168569 H syndrome



73

ORPHA number 139441 2396 99803 217026 91378 100051 100054 100050 100051 100054 966 79263 2841 2342 1408 69084 58017 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 99873 989 186 340

Disease name

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 Hairy cell leukemia variant Hairy elbows 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 Hand-Schüller-Christian disease Hanhart syndrome Hanot syndrome Hantavirosis

ORPHA number 340 319247 3294 2967 1490 899 2812 85182 1415 1177 457 199282 →216866 2115 2116 2116 2117 84085 83601 99872 2994 3325 2118 1071 163596 231242 231249 93616 352657 330032 251359 251365 251370 251375 363412 88673 86864 93556 85458 324723 100006 324718 100008 324708 324713 324703 100006 58017 300878 163690 306741 26106

Disease name

Hantavirus fever Hantavirus pulmonary syndrome Hapnes-Boman-Skeie syndrome Haptocorrin deficiency Harboyan syndrome HARD syndrome Hard-skin syndrome, Parana type Hardcastle syndrome Hardikar syndrome Harding ataxia Harlequin ichthyosis Harlequin syndrome HARP syndrome Harrod syndrome Hartnup disease Hartnup disorder Hartsfield-Bixler-Demyer syndrome HAS Hashimoto encephalitis Hashimoto-Pritzker syndrome Haspeslagh-Fryns-Muelenaere syndrome HAT Hawkinsinuria Hay-Wells syndrome Hb Bart's hydrops fetalis HbC-beta-thalassemia syndrome HbE-beta-thalassemia syndrome HbH disease HBID HbLepore-beta-thalassemia syndrome HbS-beta-thalassemia syndrome HbSC disease HbSD disease HbSE disease HBSL HCC HCD HCDD HCHWA HCHWA, Arctic type HCHWA, Dutch type HCHWA, Flemish type HCHWA, Icelandic type HCHWA, Iowa type HCHWA, Italian type HCHWA, Piedmont type HCHWA-D HCL HCL-v HCS HD-HA syndrome HDGC

ORPHA number 157941 98934 157946 98759 313808 2237 402823 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 2330 90053 2128 86908

Disease name

HDL1 HDL2 HDL3 HDL4 HDLS HDR syndrome HDV HE Head and neck squamous cell carcinoma Hearing loss-encephaloneuropathyobesity-valvulopathy 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 Hemangioma-thrombocytopenia syndrome Hematopoietic stem cell transplantation Hemi 3 syndrome Hemiconvulsion-hemiplegiaepilepsy syndrome



74

ORPHA number 2128 443070 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

99138

712

90030

Disease name

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 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to glucophosphate isomerase deficiency Hemolytic anemia due to glutathione reductase deficiency

ORPHA number 248305

35120 766 275944 90038 2134

93581

93578

93575

357008

93579

93580

93576

217023

158048 98878 98879 329 178396 340 274 324632 2136 2135 761 95159 79269 79271 3325

Disease name

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 Hendra virus infection Hennekam syndrome Hennekam-Beemer syndrome Henoch-Schönlein purpura HEP Heparan sulfamidase deficiency Heparan-alpha-glucosaminide Nacetyltransferase deficiency Heparin-associated thrombocytopenia

ORPHA number 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 93560 238269

93562

93561 85450 85448 228277

Disease name

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 tumor 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 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



75

ORPHA number 91378 100050 100051 100054 91378 100050 100051 100054

73229

3115 289601 1416 1429 352657 352657 91378 221061 221061 145 227535 227535 871 36382 1416 1416 30925 30925 221061 221061 85458 324723 100006 324718 100008

Disease name

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 chorea 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 Hereditary cerebral cavernoma 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

ORPHA number 324708 324713 324703 48818 36382 53372 53372 676 422526 422526 293144 238578 293150 98434 98434 238722 238722 972 79273 60015 168577 398088 168577 98967 100008 26106 26106 26106 313808

313808 288 →247691

Disease name

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 17q23.1q23.2 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 Hereditary crystalline stromal dystrophy of Schnyder Hereditary cystatin C amyloid angiopathy Hereditary diffuse cancer of stomach Hereditary diffuse gastric adenocarcinoma Hereditary diffuse gastric cancer Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary diffuse leukoencephalopathy with spheroids Hereditary elliptocytosis Hereditary endotheliopathyretinopathy-nephropathy-stroke syndrome

ORPHA number 98873 36899 85195 157846 90045 469 469 469 53372 2024 2024 774 2604 199285 238475 3197 3197 163 163 2801 157215 55654 90368 217407 602 79091 324381 178464

79091 300373 397692 332 2334 493

Disease name

Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) Hereditary essential myoclonus Hereditary expansile polyostotic osteolytic dysplasia Hereditary ferritinopathy Hereditary folate malabsorption Hereditary fructose intolerance Hereditary fructose-1-phosphate aldolase deficiency Hereditary fructosemia Hereditary geniospasm Hereditary gingival fibromatosis Hereditary gingival hyperplasia Hereditary hemorrhagic telangiectasia Hereditary hollow visceral myopathy Hereditary hypercarotenemia and vitamin A deficiency Hereditary hypercholanemia Hereditary hyperekplexia Hereditary hyperexplexia Hereditary hyperferritinemia with congenital cataracts Hereditary hyperferritinemiacataract syndrome Hereditary hyperphosphatasia Hereditary hypophosphatemic rickets with hypercalciuria Hereditary hypotrichosis simplex Hereditary hypotrichosis simplex of the scalp 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



76

ORPHA number 411602 523 523 523 79452 90186 228277 621 157794 64748 773 64751 90120 64748 90119

90103

99950 90117 90117 99953 1839 171723 136 →3460 523 83454 2590 43115 1062 456333 456333 30925

Disease name

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 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

ORPHA number 640 279943 91378 168583 56 30 98868 79141 86923

86923 47044 99878 476102 168615

46532

251380

29072 300373 330061 178345 828 98808 158025 178464 264675

440427

275777 →288 85450 93560

Disease name

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 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

ORPHA number 238269 93562 93561 94088 788 357027 221043

221039 280598 36386

139564

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

Disease name

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 with tendon and pulmonary involvement 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 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



77

ORPHA number 139573

391397

139578 456318

456318

213524 100996 822 84093 71493 480851 268322

71290

329319 82 82

217467

217467 745 743 745 205 79234 79235 →247691 →247691

Disease name

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 loss-dementia 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 platelets-hematological cancer predisposition syndrome Hereditary thrombocytosis with transverse limb defect Hereditary thrombophilia due to congenital antithrombin 3 deficiency Hereditary thrombophilia due to congenital antithrombin deficiency Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Hereditary thrombophilia due to congenital HRG deficiency Hereditary thrombophilia due to congenital protein C deficiency Hereditary thrombophilia due to congenital protein S deficiency Hereditary thrombophilia due to PC deficiency Hereditary unconjugated hyperbilirubinemia Hereditary unconjugated hyperbilirubinemia type 1 Hereditary unconjugated hyperbilirubinemia type 2 Hereditary vascular retinopathy Hereditary vascular retinopathyRaynaud phenomenon-migraine syndrome

ORPHA number 93160 903 98805 170 170 3467 3202 773 275777 3411 79430 183678 231531 231537 280663 183678 231500 231512 2139 2786 →247691 1930 1930 1930 1930 208524 369 1486 314970 314950 314950 314962 640 3450 3450 845 309192 309239 309178 309185

Disease name

Hereditary vitamin D-resistant rickets Hereditary von Willebrand disease Hereditary whispering dysphonia Hereditary woolly hair syndrome Hereditary wooly hair syndrome Hereditary xanthinuria Hereditary xerocytosis Heredopathia atactica polyneuritiformis Heritable pulmonary arterial hypertension Herlyn-Werner syndrome Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome type 2 Hermansky-Pudlak syndrome type 7 Hermansky-Pudlak syndrome type 8 Hermansky-Pudlak syndrome type 9 Hermansky-Pudlak syndrome with neutropenia Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis Hernández-Aguirre Negrete syndrome Hernández-Fragoso syndrome HERNS syndrome Herpes simplex encephalitis Herpes simplex meningoencephalitis Herpes simplex neuroinvasion Herpetic encephalitis Herpetiform pemphigus Hers disease Herva disease HES-L HES-M HES-N HES-R 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

ORPHA number 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 1809 343 137577 330012 171201 314029 314029

480541

363396 3181 231080 251646 213777 213731 213777

Disease name

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 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



78

ORPHA number 213731 101088 101089 101090 101091 101092 183663 183666 99978 99978 84085 84085 1164 2114 3408 411593 65684 388 261537

261552

261537

261537

2155 2151 2152 2153 2150 2026 2156 3283 2157 2157 2157 2157 2157

Disease name

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) Hirschsprung disease and intellectual disability due to 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

ORPHA number 2158 50918 86896 137675 390 3325 →138 443291 443291 1573 572 2248 412 523 2213 178464 20 35701 157794 64748 773 64751 401964 64748 90119 99950 99950 90117 99953 69084 93111 640 67037 1979 2349 391665 414 454718 →994 3328 93970 2143 79242 2162 2165 2163

Disease name

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 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 HMSN-Lom HMSNP 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 Holoprosencephaly Holoprosencephaly-caudal dysgenesis syndrome Holoprosencephalycraniosynostosis syndrome

ORPHA number 2117

2570

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

395

622 56 163596 391665 14 →288 98958 98960 78 307936 2744 397 392 166412 1352 99907 2198 3322 306669 275777 98808 2162

Disease name

Holoprosencephaly-ectrodactylycleft lip palate syndrome Holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome Holoprosencephaly-hypokinesiacongenital contractures syndrome Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Holt-Oram 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 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



79

ORPHA number 46532 251380 247262 436 293958 47044 79233 510 510 79233 79233 79233 79233 79430 183678 231531 231537 280663 231500 231512 99880 2323 84085 36386 139564 456318 970 1764 642 64752 314381 391397 478664 139564 139573 391397 139578 2182 388 391417 85295 391428 391428 391457 391417 85295 391428 391428 391457 30924 456318

Disease name

HPFH-beta-thalassemia syndrome HPFH-sickle cell disease syndrome HPMR 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 HSAN1E HSAN2 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

ORPHA number 1930 285 289326

482077 482077 228116 438279 289326

289326 294973 295063 295061 294973 295063 295061 3265 295211 295209 3265 295211 295209 3266 295207 295205 294975 295087 295085 3266 295207 295205 →263463 94056 295215 295213 94056 295215 295213

Disease name

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 Iassociated myelopathy/tropical spastic paraparesis Human T-lymphotropic virus type-1associated myelopathy/tropical spastic paraparesis Humeral agenesis/hypoplasia Humeral agenesis/hypoplasia, bilateral Humeral agenesis/hypoplasia, unilateral Humeral intercalary meromelia Humeral intercalary meromelia, bilateral Humeral intercalary meromelia, unilateral Humero-radial fusion Humero-radial fusion, bilateral Humero-radial fusion, unilateral Humero-radial synostosis Humero-radial synostosis, bilateral Humero-radial synostosis, unilateral Humero-radio-ulnar fusion Humero-radio-ulnar fusion, bilateral Humero-radio-ulnar fusion, unilateral Humero-radio-ulnar intercalary transverse meromelia Humero-radio-ulnar intercalary transverse meromelia, bilateral Humero-radio-ulnar intercalary transverse meromelia, unilateral Humero-radio-ulnar synostosis Humero-radio-ulnar synostosis, bilateral Humero-radio-ulnar synostosis, unilateral Humero-spinal dysostosis Humero-ulnar fusion Humero-ulnar fusion, bilateral Humero-ulnar fusion, unilateral Humero-ulnar synostosis Humero-ulnar synostosis, bilateral Humero-ulnar synostosis, unilateral

ORPHA Disease name number →263463 Humerospinal dysostosis 3383 Humerus trochlea aplasia 580 217085 217093 →35069 2715 97340 3365 1390 399 399 401901 157941 98934 157946 98759 401901 363694 384 93473 93473 93476 330061 740 93160 364039 →247691 53698 70587 530 67041 400 99927 400 2898 2177 330021 330061 330058 364039 2182 899 2186

Hunter syndrome Hunter syndrome type A Hunter syndrome type B Hunter-Carpenter-McDonald syndrome Hunter-Jurenka-Thompson syndrome Hunter-McAlpine craniosynostosis Hunter-Rudd-Hoffmann syndrome Hunter-Thompson-Reed syndrome Huntington chorea Huntington disease Huntington disease phenocopy due to C9ORF72 expansions Huntington disease-like 1 Huntington disease-like 2 Huntington disease-like 3 Huntington disease-like 4 Huntington disease-like syndrome due to C9ORF72 expansions HUPRA syndrome Huriez syndrome Hurler disease Hurler syndrome Hurler-Scheie syndrome Hutchinson summer prurigo Hutchinson-Gilford progeria syndrome HVDRR HVLL HVR Hyaline body myopathy Hyaline membrane disease Hyalinosis cutis et mucosae Hyaluronidase deficiency Hydatid disease Hydatidiform mole Hydatidosis Hyde Forster-McCarthy-Berry syndrome Hydranencephaly Hydrargyria Hydroa aestivale Hydroa vacciniforme Hydroa vacciniforme-like lymphoma Hydrocephalus with stenosis of the aqueduct of Sylvius Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocephalus-blue scleraenephropathy syndrome



80

ORPHA number 916

2180

2119 2183 1397 2184 2181 221126 2189 2473 2704 1041 1426 20 401 309147 343 101090 101088 101088 101092 101092 101088 101089 101090 101091 101092 183663

183666 309147 927

401948

Disease name

Hydrocephalus-cleft palate-joint contractures syndrome Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Hydrocephalus-endocardial fibroelastosis-cataract syndrome Hydrocephalus-obesityhypogonadism syndrome Hydrocephaly-cerebellar agenesis syndrome Hydrocephaly-low insertion umbilicus syndrome Hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly/hydranencephaly due to cerebral vasculopathy Hydrolethalus Hydrometrocolpos-postaxial polydactyly syndrome 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

ORPHA number 168588 90 234 3111 276405 306661 2196

209902

83639 1032 470 3197 163985 408 2410 243 2157 742 343 2314 2314 343 343 79299 324575 263455 263458 263458

276603

71212

276598

Disease name

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 Hyperekplexia-epilepsy syndrome Hyperglycerolemia Hypergonadotropic hypogonadismcataract 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-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxideresistant focal form

ORPHA number 276556 79299 71212 324575 263455 263458

165991

71212

71212

165991 276556 35878 757 682 682 409 1662 1336 682 140905 412 →444490 412 70470 2203 2203 3124 289891 289891

88618

289290

Disease name

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 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to UCP2 deficiency Hyperinsulinism-hyperammonemia syndrome Hyperkalemia-hypertension syndrome, Gordon type Hyperkalemic periodic paralysis Hyperkalemic PP Hyperkeratosis lenticularis perstans Hyperkeratosis-contracture syndrome Hyperkeratosis-hyperpigmentation syndrome HyperKPP Hyperlipidemia due to hepatic triglyceride lipase deficiency Hyperlipidemia type 3 Hyperlipoproteinemia type 1 Hyperlipoproteinemia type 3 Hyperlipoproteinemia type 5 Hyperlysinemia Hyperlysinemia type I Hyperlysinemia type II Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninemia due to GNMT deficiency Hypermethioninemia due to Sadenosylhomocysteine hydrolase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency



81

ORPHA number 289290 73267 414 414

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

Disease name

Hypermethioninemia encephalopathy due to ADK deficiency Hypernychthemeral syndrome Hyperornithinemia Hyperornithinemia-gyrate atrophy of choroid and retina syndrome Hyperornithinemiahyperammonemia-homocitrullinuria 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

ORPHA number 93604 889 1519 2211 2213 2745 293958 293958

88660 757 423 2220 2222 2222 2026 966 966 1231 966

319182

1517

324525

324525

217601 329883 90282 2224 217330

363694

Disease name

Hyperprostaglandin E syndrome Hypersensitivity angiitis Hypertelorism, Teebi type Hypertelorism-hypospadiaspolysyndactyly syndrome 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-short stature syndrome 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-anemia-renal failure syndrome Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


2435

289157 93160 100032 93297 429 36412 2228 2228 185 989 →261483

2233

141333

2230 2235

293967

293967

363523 238468 98813

1882

293964 681 30924

Disease name

Hyperzincemia and hypercalprotectinemia Hypnic headache Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypocalcified amelogenesis imperfecta Hypochondrogenesis Hypochondroplasia Hypocomplementemic urticarial vasculitis Hypodontia-dysplasia of nails syndrome Hypodontia-nail dysgenesis syndrome Hypogenetic lung syndrome Hypoglossia-hypodactyly syndrome Hypogonadism-gynecomastia-Xlinked intellectual disability syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome Hypogonadism-short staturecoloboma-preaxial polydactyly syndrome Hypogonadotropic hypogonadismfrontoparietal alopecia syndrome Hypogonadotropic hypogonadismretinitis pigmentosa syndrome Hypogonadotropic hypogonadismsevere microcephaly-sensorineural deafness-dysmorphism syndrome Hypogonadotropic hypogonadismsevere microcephaly-sensorineural hearing loss-dysmorphism syndrome Hypohidrosis-enamel hypoplasiapalmoplantar keratodermaintellectual disability syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypohidrotic ectodermal dysplasiahypothyroidism-ciliary dyskinesia syndrome Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypokalemic periodic paralysis Hypomagnesemia caused by selective magnesium malabsorption



82

ORPHA number 30924 1790 100033

100034 435 2680 139441

363412

447893

85163

88637

3453

2237 2323

2323 436 314621 99725 324561 42665

79477

79476

324561

91354 →3157 →3157

Disease name

Hypomagnesemia intestinal type 1 Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomelanosis of Ito 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 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Hypoparathyroidism-deafness-renal disease syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-short statureintellectual disability-seizures 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 Hypopituitarism-microphthalmia syndrome

ORPHA number →3157 99058 722 100031 2248 293864

3332

→216866 327 2494 325 2250 2745 2745 →1299 2261 2353 443101 672 86906

→3157

226307

90673 1226

3047

91131 137908

Disease name

Hypopituitarism-postaxial polydactyly syndrome Hypoplasia of the mitral valve annulus Hypoplasminogenemia Hypoplastic amelogenesis imperfecta Hypoplastic left heart syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Hypoplastic tibiae-postaxial polydactyly syndrome Hypoprebetalipoproteinemiaacanthocytosis-retinitis pigmentosapallidal degeneration syndrome Hypoproconvertinemia Hypoproteinemic hypertrophic gastropathy Hypoprothrombinemia Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypospadias-dysphagia syndrome Hypospadias-hypertelorism syndrome Hypospadias-hypertelorismcoloboma and deafness syndrome Hypospadias-intellectual disability, Goldblatt type syndrome Hypotelorism-cleft palatehypospadias syndrome Hypothalamic adipsic hypernatraemia syndrome Hypothalamic hamartoblastoma syndrome Hypothalamic hamartomas with gelastic seizures Hypothalamic insufficiencysecondary microcephaly-visual impairment-urinary anomalies syndrome Hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to TSH receptor mutations Hypothyroidism-cleft palate syndrome Hypothyroidism-dysmorphismpostaxial polydactyly-intellectual disability syndrome Hypotonia and ichthyosis due to dolichol phosphate deficiency Hypotonia with lactic acidemia and hyperammonemia

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

69735

69735

307936

307936

307936

307936

79233

510

79233

510

79233

137577 137577 682 63440

Disease name

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 hyperkeratosis-acroosteolysisperiodontitis syndrome Hypotrichosis-striate palmoplantar keratoderma-acroosteolysisperiodontitis 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 Hypoxic and ischemic brain injury in the newborn Hypoxic-ischemic encephalopathy HYPP Hypsicephaly



83

ORPHA number 63440 576 480512 724 158048 293168 254509 95619 363424 →33364 611 602 79091 52430 1576 31709 64734 2268 455 457 289586 457 2273 2273 79504 79503 79503 88621 281190 281190 79504 2269

2267 91132

91132

2274 91132 59303

2278

→1643

Disease name

Hypsocephaly I-cell disease IAD IAEP IAHS IAHSP Iatrogenic botulism Iatrogenic or traumatic pituitary deficiency IBA57 deficiency IBIDS syndrome IBM IBM2 IBM3 IBMPFD IBSN 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 prematurity syndrome Ichthyosis variegata Ichthyosis with confetti Ichthyosis, Lambert type Ichthyosis-alopecia-eclabionectropion-intellectual disability syndrome Ichthyosis-cheek-eyebrow syndrome Ichthyosis-follicular atrophodermahypotrichosis syndrome Ichthyosis-follicular atrophodermahypotrichosis-hypohidrosis syndrome Ichthyosis-hepatosplenomegalycerebellar degeneration syndrome Ichthyosis-hypotrichosis syndrome Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome Ichthyosis-intellectual disabilitydwarfism-renal impairment syndrome Ichthyosis-male hypogonadism syndrome

ORPHA number 2272

363992 289347 3306 930 930 724 139423 480512 422 280914 88 399307 399307 1980 171684 84065 88 60033 1320 1320 188 163703 228000 169615 2902 95717 209919 35062 35062 447881 480512 256 247724 329874 64722 86908 2197 3260 33208

Disease name

Ichthyosis-oral and digital anomalies 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 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 Idiopathic dystonia Idiopathic eosinophilic myositis Idiopathic giant cell myocarditis Idiopathic granulomatous mastitis Idiopathic hemiconvulsionhemiplegia syndrome Idiopathic hypercalciuria Idiopathic hypereosinophilic syndrome Idiopathic hypersomnia

ORPHA number 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 280917 1320 747 275766 1676 2032 99931 35061 251307

Disease name

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 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



84

ORPHA number 276174 251307 40923 40923 209943 49041 458718 35065 458718 69061

93209

93206

93206

93207 99858 256 98806 3347 209956 130 228140 280384 580 217085 217093 92050 91132 2273 332 329903 329903 761 329874 79099 73272 449400 79078

Disease name

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 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

ORPHA number 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 477661 100078 100078 238621 1150 79466 85173 247718 42062 284362 398987 289465 →244 2901 169090

238569

Disease name

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 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

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

169147

169150

169147

169150

169147

169100 331190

70592

331187

70593

200421 200418

2268

647

Disease name

Immune dysregulationpolyendocrinopathy-enteropathy-Xlinked 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 C1, C4, or C2 component complement deficiency Immunodeficiency due to a C5 to C9 component complement deficiency Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to an early component of 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



85


329903 329903 100025 97567 97567 456312 206569 857 2759 71276 35069 35069 254509 45453 79263 231226 199267 602 79091 52430 611 254693 254693 157769 180079 180079 464 435 158019 1388 98848 1909 70587 70587 178478 1943 178478

Disease name

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 vetebral anomalies syndrome Imploding antrum syndrome INAD INAD1 Inadvertent botulism Incessant infant ventricular tachycardia INCL Inclusion body beta-thalassemia Inclusion body fibromatosis Inclusion body myopathy type 2 Inclusion body myopathy type 3 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myositis Incomplete hydatidiform mole 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 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

ORPHA number 178478 178478 70587 178487 247165 99749 99725 70590 51608 2679 89938 1576 178478 314911 137675 217557 313850

402364 77260 1313 31709 1310 199267 87876 238455 364063 300373 289860 79255 309155 293603

352563 247651 371364

79076 206436

Disease name

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 bilateral striatal necrosis Infantile botulism Infantile Canavan disease Infantile cardiomyopathy with histiocytoid change Infantile cellular interstitial pneumonitis Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive 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

ORPHA number 1928 667 247165 247165 456312 2591 79263 93591 35069 79263 289860 289860 251304 1186 67047 85179 247651 247651 772 254864

263410

3451 3173 83330 1576 1576 1575

255241

255249

3311 2176 1577 2768 137675 293168

Disease name

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 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 striatonigral degeneration Infantile striatonigral necrosis Infantile striatothalamic degeneration Infantile subacute necrotizing encephalopathy with leukodystrophy Infantile subacute necrotizing encephalopathy with nephrotic syndrome Infantile symmetrical thalamic degeneration Infantile systemic hyalinosis Infantile thalamic degeneration Infantile tibia vara Infantile xanthomatous cardiomyopathy Infantile-onset ascending hereditary spastic paralysis



86

ORPHA number 284332

457205

391316

1451

171714

1145 781 279922 137593 279925 279919 289347 289347 289347 99123 155889 99123 280794 280794 85445 79466 178342 160148 247718 263553 48918 90003 238305 95513 1849 247257 254504 247257 254504 319465

Disease name

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Infantile-onset axonal motor and sensory neuropathy-optic atrophyneurodegenerative syndrome Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Infantile-onset multisystem inflammatory disease 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 Infectious panuveitis Infectious posterior uveitis 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

ORPHA number 319465 319462 282166 210141 210141 282166 859 100054 100054 100054 100054 71278 71278 289548

225968 37 63259 178475 411593 2297 2298 97279 100973 464311 166108 3079 →324737 2557 3080 289483

2466

3041

Disease name

ORPHA number

Disease name

Inherited AML Intellectual disability-brachydactyly364577 Pierre Robin syndrome Inherited cancer-predisposing syndrome due to biallelic BRCA2 Intellectual disability-cataract→324737 coloboma-kyphosis syndrome mutations Inherited CJD Intellectual disability-cataracts3042 calcified pinnae-myopathy Inherited congenital spastic syndrome quadriplegia Intellectual disability-cataractsInherited congenital spastic 171860 kyphosis syndrome tetraplegia Intellectual disability-coarse faceInherited Creutzfeldt-Jakob disease 397709 macrocephaly-cerebellar hypoplasia Inherited deficiency of syndrome transcobalamin Intellectual disability-coarse faceInherited estrogen-associated 397709 macrocephaly-cerebellar hypotrophy angioedema syndrome Inherited estrogen-associated Intellectual disability-craniofacial angioneurotic edema 329224 dysmorphism-cryptorchidism Inherited estrogen-dependent syndrome angioedema Intellectual disabilityInherited estrogen-dependent 3454 developmental delay-contractures angioneurotic edema syndrome Inherited glutamine synthetase Intellectual disability-dysmorphismdeficiency 3044 hypogonadism-diabetes mellitus Inherited GS deficiency syndrome Inherited isolated adrenal Intellectual disability-dysmorphisminsufficiency due to partial CYP11A1 →280 intrauterine growth retardation deficiency syndrome Inherited predisposition to essential Intellectual disability-enteropathythrombocythemia 171851 deafness-peripheral neuropathyInherited zinc deficiency ichthyosis-keratodermia syndrome Iniencephaly Intellectual disability-epilepsy2139 Inoculation botulism bulbous nose syndrome Insulin autoimmune syndrome Intellectual disability-epilepsy127 Insulin-resistance syndrome type A endocrine disorders syndrome Insulin-resistance syndrome type B Intellectual disability-epilepsy468620 Insulinoma extrapyramidal syndrome Intellectual disability associated Intellectual disability-epilepsywith fragile site FRAXE 435638 stereotypic hand movement Intellectual disability syndrome due syndrome to a DYRK1A point mutation Intellectual disability-expressive Intellectual disability, Birk-Barel 436151 aphasia-facial dysmorphism type syndrome Intellectual disability, Buenos-Aires Intellectual disability-facial type 404440 dysmorphism syndrome due to Intellectual disability, Kahrizi type SETD5 haploinsufficiency Intellectual disability, MietensIntellectual disability-facial 370010 dysmorphism-hand anomalies Weber type syndrome Intellectual disability, Wolff type Intellectual disability-feeding Intellectual disability-alacrima363611 difficulties-developmental delayachalasia syndrome microcephaly syndrome Intellectual disability-aphasiaIntellectual disability-hyperkinetic shuffling gait-adducted thumbs 369847 movement-truncal ataxia syndrome syndrome Intellectual disability-hypoplastic Intellectual disability-balding1495 corpus callosum-preauricular tag patella luxation-acromicria syndrome syndrome



87

ORPHA number 314575

166108 3050 356996 3451

436151

457279

3067

468678

457365

3068

352530

397973

3082

369837

369950 391372

3409

3074

1240

3051 1891

Disease name

Intellectual disability-hypotoniabrachycephaly-pyloric stenosiscryptorchidism syndrome Intellectual disability-hypotoniafacial dysmorphism syndrome Intellectual disability-hypotoniaskin hyperpigmentation syndrome Intellectual disability-hypotoniaspasticity-sleep disorder syndrome Intellectual disabilityhypsarrhythmia syndrome Intellectual disability-loss of expressive language-facial dysmorphism syndrome Intellectual disability-macrocephalyhypotonia-behavioral abnormalities syndrome Intellectual disability-microcephalyphalangeal-facial abnormalities syndrome Intellectual disability-microcephalystrabismus-behavioral abnormalities syndrome Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome Intellectual disability-myopathyshort stature-endocrine defect syndrome Intellectual disability-obesity-brain 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 staturehand contractures-genital anomalies syndrome Intellectual disability-short staturehypertelorism syndrome Intellectual disability-short staturewedge-shaped epiphyses of knees syndrome Intellectual disability-sparse hairbrachydactyly syndrome Intellectual disability-spasticityectrodactyly syndrome


75858 1478 1478 51890 86900 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 79099 440427 440402

440402

Disease name

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 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 granulomatous dermatitis with arthritis Interstitial lung and liver disease Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to ATPbinding cassette subfamily A member 3 deficiency

ORPHA number 440392 440392 99092 1201 178481 178481 92050 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 3306

Disease name

Interstitial lung disease due to SP-C deficiency Interstitial lung disease due to surfactant protein C deficiency Interventricular septum aneurysm Intestinal atresia type IIIb Intestinal botulism Intestinal colonization botulism Intestinal epithelial dysplasia 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 Inv dup(15)



88

ORPHA number 457088 90078 90078 99925 324648 96092 79405 329324 98951 79409 79409 96092 2704 1451 1186 275766 747 238455 37042 88621 100025 70592 772 209981 64734 →782 39044 209981 43115 86915 209943 84142 84142 85200 85200 85200 1509 43115 79144 79159 79159 3309 3310

Disease name

Invasive candidiasis-deep dermatophytosis syndrome Invasive infections due to vancomycin-resistant enterococci Invasive infections due to VRE Invasive mole 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 IOSCA IPAH iPAP IPD IPEX IPS IPSID 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-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 Isobutyryl-CoA dehydrogenase deficiency Isochromosome 5p Isochromosome 9p

ORPHA number 884 884 3307 96055 98797 98798 99731 3306 263524 229717 440987 268868 263524 1048 140989 250923 91397 79143 557 3387 162516 268936 1166 206599 254913 34528 199326 269221 158778 35099 1398 269203 199630 485426 199302 2343 1460 2609 217059 289465 91416 180188

Disease name

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 asymmetric crying facies Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated autosomal dominant hypomagnesemia Isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated bilateral hemispheric cerebellar hypoplasia Isolated bone marrow mastocytosis Isolated brachycephaly Isolated cerebellar hypoplasia/agenesis Isolated cerebellar vermis agenesis Isolated cerebellar vermis hypoplasia Isolated CHF Isolated cleft lip Isolated cloverleaf skull syndrome Isolated coenzyme Q-cytochrome C reductase deficiency Isolated complex I deficiency Isolated congenital acropachy Isolated congenital adermatoglyphia Isolated congenital alacrima Isolated congenital amastia

ORPHA number 79143 88620 162526 180188 238722 217059 99171 432 485426 141152 141214 91489 199642 238722 217059 162516 91490 141214 216718 216718 1460 254905 91396 254905 217 269212

269215 248340 248340 248340 248340 99177 35093 1885 199647 221106 65683 268994

Disease name

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 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 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 Isolated cryptophthalmia 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



89

ORPHA number 268961 268973 268980 268987 268994 269001 269008 448264 52901 52901 468666 408 231662 231671 231679 231692 2128 2128 306527 229717 183675 2345 1084 268920 391474 268920 238593 95707 90641 2609 3208 1460 254905

Disease name

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 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 Isolated hemihypertrophy 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

ORPHA number 254913 90641 2609 2609 2609 162516 447881 480556 137902 166119 63440 269209 96269 718 718 35098 2924 2456 216452 216445 238670 238670 264691 34528 439 35093 440713 440713 457083 178311 3208 3208 3208 99731 90674 238670 238670 238670

Disease name

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 optic nerve hypoplasia 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 Isolated prelingual genetic deafness Isolated prothyroliberin deficiency Isolated protirelin deficiency Isolated pulmonary capillaritis Isolated renal magnesium wasting Isolated right ventricular hypoplasia Isolated scaphocephaly 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-releasing factor deficiency Isolated thyrotropin-releasing hormone deficiency

ORPHA number 269206 454750 103909 238670 238670 3366 90674 238670 1460 269218 860 96 472 2305 2305 2306 33 33 309324 →33364 439254 439254 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

Disease name

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 Isovaleric acidemia ISSD Itin syndrome ITM2B amyloidosis ITM2B-related amyloidosis 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



90

ORPHA number 79139 2311 474 91412 313795 2315 397715 139431 79404 79405 79406 79402 251393 79403 1201 100077 100077 1201 89840 →52368 90647 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

Disease name

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 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

ORPHA number 1454 1454 397715 397715 220493 2318 2754 2754 220497 220493 2318 475 2801 247604 2929 2318 1454 220493 2318 220497 2319 101039 93972 3283 79404 79402 79405 79402 79404 79404 89840 79403 2321 319223 989 1941 391497 300605

Disease name

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 Joubert-Boltshauser syndrome JPG JPLS JPS JS type B JS-H JS-O JS-OR JS-R 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

ORPHA number 199260 391497 314918 247794 300605 86834 411634 93672 93672 228254 2929 98977 79256 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

Disease name

Juvenile aponeurotic fibromatosis Juvenile autoimmune myasthenia gravis Juvenile Canavan disease Juvenile cataract-microcornea-renal 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 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



91

ORPHA number 247604 85436 85408

247854

247861 93399 83419 585 26137 158000 445062

79241 1243 99100 99100 1540 2322 2322 85146 29073 →324737 2324 2325 478 2326 99179 1836 79280 949 →3157 33276 2122 464329 183675 2328 1381 2329 →244 401996 2330 1894 3360

Disease name

Juvenile primary lateral sclerosis Juvenile psoriatic arthritis Juvenile rheumatoid factor-negative polyarthritis Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies Juvenile sialidosis type 2 Juvenile spinal muscular atrophy Juvenile sulfatidosis, Austin type Juvenile temporal arteritis Juvenile xanthogranuloma Juvenile-onset diabetes mellituscentral and peripheral neurodegeneration syndrome Juvenile-onset multiple carboxylase deficiency Juvenile-onset vitelliform macular dystrophy Juxtaposition of the atrial appendages Juxtaposition of the atrial auricles JWS Kabuki make-up syndrome Kabuki syndrome Kaeser syndrome Kahler's disease Kahrizi syndrome Kaler-Garrity-Stern syndrome Kallin syndrome Kallmann syndrome Kallmann syndrome-heart disease syndrome Kandori fleck retina Kantaputra mesomelic dysplasia Kanzaki disease Kaplan-Plauchu-Fitch syndrome Kaplowitz-Bodurtha syndrome Kaposi sarcoma Kaposiform hemangioendothelioma Kaposiform lymphangiomatosis Kappa-chain deficiency Kapur-Toriello syndrome Karandikar-Maria-Kamble syndrome Karsch-Neugebauer syndrome Kartagener syndrome Karyomegalic interstitial nephritis Kasabach-Merritt syndrome Kasznica-Carlson-Coppedge syndrome Katsantoni-Papadakou Lagoyanni syndrome

ORPHA number 2473 2331 2306 2533 2332 439218 439218 439218 96169 480 199260 2662 79233 137653 54028 481 64542 2333 2333 435628 477 447777 494 79395 34217 65282 420686

79395

79501 50943 495 218 2340 2339

281201

86919 678

Disease name

Kaufman-Mckusick syndrome Kawasaki disease Kawashima syndrome Kawashima-Tsuji syndrome KBG syndrome KCNQ2-NEE KCNQ2-related epileptic encephalopathy KCNQ2-related neonatal epileptic encephalopathy KdVS Kearns-Sayre syndrome Keasby tumor Keipert syndrome Kelley-Seegmiller syndrome Kelly-Kirson-Wyatt syndrome Kelly-Paterson syndrome 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

ORPHA number 79141 50942 50942 495 87503 50942 34217 28378

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

Disease name

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 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 disabilityataxia-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



92

ORPHA number 96147 96147 261652 96147 96147 896 33543 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 477831 2839 99749 1129 99741 2351

Disease name

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 Klein-Waardenburg syndrome Kleine-Levin syndrome 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 Kosaki overgrowth syndrome Kosenow syndrome Kostmann syndrome Kosztolanyi syndrome Koussef-Nichols syndrome Kousseff syndrome

ORPHA number 629 2352 3082 2204 487 206436 206436 206443 1345 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 275543 275543 79314 79314 79314 35704 157973 156 156 440731 93599 216694 83483 53696 3473

Disease name

Kowarski syndrome Kozlowski-Brown-Hardwick syndrome Kozlowski-Krajewska syndrome Kozlowski-Tsuruta syndrome Krabbe disease Krabbe disease, classic form Krabbe disease, early-onset Krabbe disease, late-onset Krasnow-Qazi syndrome 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 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 Laband syndrome

ORPHA number 2363 2363 284426 284435 2965 2968 99844 99842 99843 99844 2363 1484 158687 501 1997 59135 275761 538 306507 1296 43393 313 137871 137871 90024 98818 354 269 231031 2632 502 86897 2368 →1159 2363 98838 626 633 220465 220465 633 2370 284139

Disease name

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 Laminopathy type DecaudainVigouroux Laminopathy with severe metabolic syndrome and myopathy 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 dysplasia-short stature syndrome Larsen-like syndrome, B3GAT3 type



93


2407 100083 2407 2004 280205 93938 93939 93940 93941 2005 2004 2372 137935 2004 280205 93938 93939 93940 93941 1202 99824 99824 98974 157716 168491 168491 79256 206443 98816 247573 247573 399058

Disease name

Laryngeal abductor paralysis 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 cleftpulmonary hypoplasia syndrome 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

ORPHA number 98912 228227 163708 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 98964 93558 98964 5 5 52416 626 363618 65285 2364 284435 284426 2616 330015 330015 3246 65 104 190

Disease name

Late-onset distal myopathy, Markesbery-Griggs type Late-onset focal dermal elastosis Late-onset infantile spasms 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 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

ORPHA number 104 99718 98955 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

Disease name

Leber optic atrophy Leber plus disease LECD 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



94

ORPHA number 213807 213625 507 140936 137839 137839 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

330050 1972 444069

439897

1046 480528

Disease name

ORPHA number

Disease name

Leiomyosarcoma of the cervix uteri Lethal hydrocephalus-cardiac Leiomyosarcoma of the corpus uteri 1237 malformation-dense bones syndrome Leishmaniasis 35064 Lethal idiopathic viral infection Lelis syndrome Lethal infantile mitochondrial Lemierre postanginal sepsis 254857 disease Lemierre syndrome Lethal infantile mitochondrial Lennox-Gastaut syndrome 254857 myopathy Lens-induced endophthalmitis 2347 Lethal Kniest-like dysplasia Lens-induced iridocyclitis 2371 Lethal Larsen-like syndrome Lens-induced uveitis Lethal left ventricular nonLenz microphthalmia compaction-seizures-hypotonia478049 Lenz-Majewski hyperostotic cataract-developmental delay dwarfism syndrome LEOPARD syndrome 86879 Lethal midline granuloma Lepore-beta-thalassemia syndrome 33108 Lethal multiple pterygium syndrome Leprechaunism Lethal neonatal rigidity-multifocal 435845 Leprosy seizure syndrome Leptomeningeal melanomatosis Lethal neonatal spasticity-epileptic 435845 Leptomyelolipoma encephalopathy syndrome Leptospirosis Lethal neurodegenerative disorder 300313 Leri pleonosteosis due to copper transport defect Léri-Weill dyschondrosteosis Lethal occipital encephalocele293925 Léri-Weill syndrome skeletal dysplasia syndrome Lesch-Nyhan syndrome Lethal omphalocele-cleft palate 2736 Lethal acantholytic epidermolysis syndrome bullosa 216804 Lethal osteogenesis imperfecta Lethal arteriopathy syndrome due 1832 Lethal osteosclerotic bone dysplasia to fibulin-4 deficiency Lethal polymalformative syndrome, 210144 Lethal arthrogryposis-anterior horn Boissel type cell disease syndrome Lethal popliteal pterygium 1234 Lethal ataxia with deafness and syndrome optic atrophy 1423 Lethal recessive chondrodysplasia Lethal chondrodysplasia, Moerman 1662 Lethal restrictive dermopathy type Lethal short-limb dwarfism, Lethal chondrodysplasia, Seller type →56304 McAlister-Crane type Lethal congenital contracture Lethal skeletal dysplasia-fetal syndrome type 1 akinesia-contractures-thoracic 464366 Lethal congenital contracture dysplasia-pulmonary hypoplasia syndrome type 2 syndrome Lethal congenital contracture Lethal variant of Simpson-Golabi79022 syndrome type 3 Behmel syndrome Lethal encephalopathy due to 99870 Letterer-Siwe disease mitochondrial and peroxisomal 58017 Leukemic reticuloendotheliosis fission defect Leukemic reticuloendotheliosis 300878 Lethal faciocardiomelic dysplasia variant Lethal fetal brain malformation2968 Leukocyte adhesion deficiency duodenal atresia-bilateral renal Leukocyte adhesion deficiency type 99842 hypoplasia syndrome I Lethal fetal Leukocyte adhesion deficiency type 99843 cerebrorenogenitourinary II agenesis/hypoplasia syndrome Leukocyte adhesion deficiency type 99844 Lethal hemolytic anemia-genital III anomalies syndrome Leukocyte adhesion deficiency-1 99844 Lethal hydranencephalyvariant diaphragmatic hernia syndrome

ORPHA number 439224 77295 139444

137898

137898

363540

135

137639

163684 83629 2386

314051

1816 2387 210133

2045 79507 2743 2388 216694 95854 95854 2363 302 →1896 48162 755 96265 96265

96265

Disease name

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 Leukoencephalopathy-metaphyseal chondrodysplasia syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukomelanoderma-intellectual disability-hypotrichosis 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 Levy-Hollister syndrome Lewandowsky-Lutz syndrome Lewis-Pashayan syndrome Lewis-Sumner syndrome Leydig cell hypoplasia 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



95

ORPHA number 96265

325448

325448

96266 96266

96266

96266 99824 266 264 265 34516 34517 55595 55596 238755 267 268 353 62 119 219 34514 1878 34515 140922 86812 206549 206554 206559 206564 280333 254361 363543 369840 363623 352479 466801 476084 424261 480682 445110 93557 65285

Disease name

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 LGMD1A LGMD1B LGMD1C LGMD1D LGMD1E LGMD1F LGMD1G LGMD1H LGMD2A LGMD2B LGMD2C LGMD2D LGMD2E LGMD2F LGMD2G LGMD2H LGMD2I LGMD2J LGMD2K LGMD2L LGMD2M LGMD2N LGMD2O LGMD2P LGMD2Q LGMD2R LGMD2S LGMD2T LGMD2U LGMD2W LGMD2X LGMD2Y LGMD2Z LGMD due to POMK deficiency LHCDD Lhermitte-Duclos disease

ORPHA number 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 62 119 267 265 219 268 34515 353 264 266 445110

Disease name

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 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

ORPHA number 34514 1878 257 52430 86812 69085 171673 276402 329341 329341 329341 163908 163908 217253 163914 217253 163914

83467 254857 366 220402 220402 220407 168491 892 3077 79150 140933 228236 2611 46488 254379 254379 2612 2611

Disease name

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 dipeptidylpeptidase 6 antibodies Limbic encephalitis with DPP6 antibodies Limbic encephalitis with DPPX antibodies Limbic encephalitis with leucine-rich 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 NMDA receptor antibodies Limbic encephalitis with novel cell membrane antigen antibodies Limbic encephalitis-neuromyotoniahyperhidrosis-polyneuropathy syndrome LIMD Limit dextrinosis Limited cutaneous systemic scleroderma Limited cutaneous systemic sclerosis Limited systemic sclerosis LINCL Lindau disease Lindsay-Burn syndrome Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear hamartoma syndrome Linear IgA dermatosis Linear lichen planus Linear LP Linear nevus sebaceus syndrome Linear verrucous nevus syndrome



96

ORPHA number 36273 888 435660 435660 77243 255182 528

156156

247762 90156 1979 50811 3163 401859 139436 530 36397 238593 812 268835 329481 69078 238593 401862 447795 98955 2400 101003 531 95232 171680 89844 2148 352682 352682 86821 86822

Disease name

Linitis plastica of the stomach Lip-pit syndrome LIPE-related familial partial lipodystrophy LIPE-related FPLD Lipedema Lipoamide dehydrogenase deficiency 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 Lipoyl transferase 2 deficiency Lisch epithelial corneal dystrophy Lisker-Garcia-Ramos syndrome Lison syndrome 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

ORPHA number 100011 100012 100013 100014 100015 100016 533 820 820 79095 369 98818 363618 157973 33108 69085 93924 666 2440 2407 314709 93685 263534 79400 90289 251393

90398

90399 178517 263534 163927 90289 2406 75566 724 60030 724

Disease name

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 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 LOC syndrome Localized AL amyloidosis Localized Castleman disease Localized deciduous skin 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

ORPHA number 2407 250831 250831 250831 2404 5 99900 3363 90647 37553 65283 65283 5 180157 52054 168 411602 2832 2266 67042 79395 803 100 171215 251633 69663 140949 213736 213736

1652 534 534 534 2408 363447

363454

Disease name

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-hydroxyacyl-coenzyme 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 Low anorectal malformation Low grade ependymoma 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 extremity-predominant autosomal dominant proximal spinal muscular atrophy Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures



97

ORPHA number 209341

2487 295051 141064 276435 844 1533 2409 1824 2003 254478 254463 254463 250831 69663 71274 329481 470 309015 163927 525 37553 65283 314051 79507 2004 280205 93938 93939 93940 93941 93938 93939 93940 93941 53351 53351 2575 2410 →1762 2312 776 776 319213 268388 268758 97332 2928

Disease name

Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures Lower limb deficiency-hypospadias 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 LQT7 LQT8 LTBL LTC4 synthase deficiency LTEC LTEC0 LTEC1 LTEC2 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 Lumbosacral spina bifida aperta Lumbosacral spina bifida cystica Lunatomalacia Lundberg syndrome

ORPHA number 1120 137631 90285 90285 90283 1173 302 →2697 54260 537 86869 91546 91546 538 2035 →289825 →289825 662 86915 86914 33001 1563 2136 99141 →33001 158793 86870 314970 79128 314970 289682 86886 314970 79128 86869 98842 329998 443159

443159

Disease name

Lung agenesis-heart defect-thumb anomalies syndrome Lung fibrosis-immunodeficiency46,XX gonadal dysgenesis syndrome Lupus erythematosus panniculitis Lupus erythematosus profundus Lupus erythematosus tumidus Luteinizing hormone-releasing hormone deficiency with ataxia Lutz-Lewandowsky epidermodysplasia verruciformis Lutz-Richner-Landolt syndrome LVNC Lyell syndrome LYG Lyme borreliosis Lyme disease Lymphangioleiomyomatosis Lymphatic filariasis Lymphedema praecox Lymphedema tarda Lymphedema with yellow nails 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

ORPHA number 280302 144 1123 3196 98842 2203 470 275761 61 309288 309282 34587 79284 93561 90020 330041 247262 98938 36412 36412 2220 2083 98757 98757 276238 276241 276244 319229 79495 1574 468672 357158

217335 60040 60040 397612 210548

Disease name

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 alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomal alpha-D-mannosidase deficiency, infantile form Lysosomal glycogen storage disease with normal acid maltase 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 Macrocephaly-alopecia-cutis laxascoliosis syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disabilityautism syndrome



98

ORPHA number 466791

457485

2563

2427 2429 79489 79489 295044 295241 295239 295047 295245 295243 295044 295241 295239 295047 295245 295243 2477 158061 592 2432 2563 141276 83619 →182050 220448 217335 137814 91494 98969 79457 2457 26791 394532 394529 26791

ORPHA number Macrocephaly-intellectual disability- 394532 left ventricular non compaction 394529 Disease name

Disease name

syndrome Macrocephaly-intellectual disabilityneurodevelopmental disorder-small thorax syndrome Macrocephaly-obesity-mental disability-ocular abnormalities syndrome Macrocephaly-short statureparaplegia syndrome Macrocephaly-spastic paraplegiadysmorphism syndrome Macrocystic lymphangioma Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral Macrodactyly of hand, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Macroencephaly Macrophage activation syndrome Macrophagic myofasciitis Macrosomia-microphthalmia-cleft palate syndrome Macrosomia-obesity-macrocephalyocular abnormalities syndrome Macrostomia Macrostomia-preauricular tagsexternal ophthalmoplegia syndrome Macrothrombocytopenia with leukocyte inclusions Macrothrombocytopenia with mitral valve insufficiency MACS syndrome Macular amyloidosis Macular coloboma-cleft palatehallux valgus syndrome Macular corneal dystrophy Maculopapular cutaneous mastocytosis MAD MAD deficiency MAD deficiency, mild type MAD deficiency, severe neonatal type MADD

MADD, mild type MADD, severe neonatal type Madelung deformity Madelung deformity, bilateral Madelung deformity, unilateral Madelung disease Madras motor neuron disease MADSAM Madura foot MAE Mae infertility due to round-headed spermatozoa Maeda syndrome Maffucci syndrome MAGIC syndrome Mahvash disease Majeed syndrome Majewski osteodysplastic primordial dwarfism type II Major hyperlipidemia Mal de débarquement Mal de Meleda Malakoplakia Malan overgrowth syndrome Malaria Malattia leventinese Male EBP disorder with neurological defects Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Male infertility due to globozoospermia Male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to NANOS1 mutation Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with normal virilization due to maturation arrest Male infertility with normal virilization due to meiosis defect Male infertility with teratozoospermia due to single gene mutation Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Male pseudohermaphroditism due to LH resistance or LHB deficiency

35688 295223 295221 2398 137867 48162 2583 1942 171709 199354 163634 324972 438274 77297 2637 70470 210272 87503 556 420179 673 75376 401973

2234

171709 137893 →399808

399805

→399805 →399805

399808

753

752

755

ORPHA number 755

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

252212

213812

213630

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 ovary Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant carcinoid syndrome Malignant dysgerminomatous germ cell tumor of ovary Malignant epithelial tumor of salivary glands Malignant germ cell tumor of cervix uteri Malignant germ cell tumor of corpus uteri 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 rhabdomyosarcomatous differenciation Malignant peripheral neuroectodermal tumor of the cervix uteri Malignant peripheral neuroectodermal tumor of the corpus uteri



99

ORPHA number 168811 69077 3148 99916 398987 99868 252212 180242 180242 943 943 2229 99090 →293843 →293843 293843 52417 103907 52417 180275 50920 238744 397941 244310 141174 363649 246 91412 2457 90153 90154 443995 245 861 79113 1131

357158

Disease name

ORPHA number

Disease name

Malignant peritoneal mesothelioma Mandibulofacial dysostosis79113 microcephaly syndrome Malignant rhabdoid tumor 306682 Manganese intoxication Malignant schwannoma Malignant Sertoli-Leydig cell tumor 306682 Manganese poisoning 306682 Manganism of ovary 2717 Malignant teratoma of ovary Manitoba oculotrichoanal syndrome 79327 Malignant thymoma Mannosyltransferase 1 deficiency 79326 Malignant triton tumor Mannosyltransferase 2 deficiency 79321 Malignant tubal tumor Mannosyltransferase 6 deficiency 79328 Malignant tumor of fallopian tubes Mannosyltransferase 7-9 deficiency 79324 Malonic aciduria Mannosyltransferase 8 deficiency 2459 Malonyl-CoA decarboxylase Mansonelliasis deficiency 2459 Mansonellosis Malouf syndrome 52416 Mantle cell lymphoma Malposition of the coronary ostium 52416 Mantle zone lymphoma Malpuech facial clefting syndrome 511 Maple syrup urine disease Malpuech syndrome →2712 Marashi-Gorlin syndrome Malpuech-Michels-Mingarelli2785 Marble brain disease Carnevale syndrome 228157 Marburg acute multiple sclerosis MALT lymphoma 99826 Marburg hemorrhagic fever Maltase-glucoamylase deficiency 99826 Marburg virus disease MALToma 221074 Marchiafava-Bignami disease Mammary Paget disease 447 Marchiafava-Micheli disease Mammary polyadenomatosis 91412 Marcus-Gunn phenomenon Mammary-digital-nail syndrome 91412 Marcus-Gunn syndrome MAN1B1-CDG 2461 Marden-Walker syndrome Man5GlcNAc2-PP-Dol flippase 2460 Marden-Walker-like syndrome deficiency 1120 Mardini-Nyhan syndrome Mandibular arteriovenous 558 Marfan syndrome malformation 284963 Marfan syndrome type 1 Mandibular hypoplasia-deafness284973 Marfan syndrome type 2 progeroid syndrome Marfanoid craniosynostosis 2462 Mandibulfacial dysostosis with syndrome postaxial limb anomalies Marfanoid habitus-autosomal Mandibulo-palpebral synkinesis2463 recessive intellectual disability ptosis syndrome syndrome Mandibuloacral dysplasia Marfanoid habitus-craniosynostosis Mandibuloacral dysplasia with type →60030 syndrome A lipodystrophy Marfanoid habitus-inguinal herniaMandibuloacral dysplasia with type 314041 advanced bone age syndrome B lipodystrophy 2464 Marfanoid syndrome, De Silva type Mandibulofacial dysostosis with Margarita island ectodermal →3253 alopecia dysplasia Mandibulofacial dysostosis with Marie Unna congenital 444 preaxial limb anomalies hypotrichosis Mandibulofacial dysostosis without Marie Unna hereditary 444 limb anomalies hypotrichosis Mandibulofacial dysostosis, Guion- 101104 Marin-Amat syndrome Almeida type 559 Marinesco-Sjögren syndrome Mandibulofacial dysostosis, Toriello 2717 Marles syndrome type Marles-Greenberg-Persaud 2717 Mandibulofacial dysostosissyndrome macroblepharon-macrostomia 583 Maroteaux-Lamy disease syndrome

ORPHA number 2767 950 1423 1040 560 42642 561 908 85321 →293864 466718 1387 2466 →284963 66661 101001 2135 3282 168598 168598 254534 254528 275944 254528 2209 2216 254528 2209 2209 411712 251009 96179 96180 96181 96183 97678 96184 96185

Disease name

Maroteaux-Le Merrer-Bensahel syndrome Maroteaux-Malamut syndrome Maroteaux-Stanescu-Cousin syndrome Maroteaux-Verloes-Stanescu syndrome Marshall syndrome Marshall syndrome with periodic fever Marshall-Smith syndrome Martin-Bell syndrome Martin-Probst syndrome Martínez-Frías syndrome Martinique crinkled retinal pigment epitheliopathy Martsolf syndrome MASA syndrome MASS syndrome Mast cell sarcoma Mast syndrome Mastocytosis-short stature-hearing loss syndrome MAT MAT deficiency MAT I/III deficiency Maternal 14q32.2 hypermethylation syndrome Maternal 14q32.2 microdeletion syndrome Maternal anti-Kell alloimmunization Maternal del(14)(q32.2) Maternal hyperphenylalaninemia Maternal hyperthermia induced birth defects Maternal monosomy 14q32.2 Maternal phenylketonuria Maternal PKU Maternal riboflavin deficiency 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



100

ORPHA number 96186 96187 96188 261519 96186 1349 1349

663 663 225

255210 255210 255210 254851 663 320360 320360 2015 2470 552 293603 141171 1248 1248 →182050 →182050 →182050 3109 247775 2578 57782 251858 91138 71529 93554

Disease name

ORPHA number 93555

Disease name

Maternal uniparental disomy of MC type III chromosome 20 MCA due to 14q32.2 maternally 254519 Maternal uniparental disomy of expressed gene defect chromosome 21 42 MCAD deficiency Maternal uniparental disomy of 42 MCADD chromosome 22 300496 MCAHS type 2 Maternal uniparental disomy of →56304 McAlister-Crane syndrome chromosome X 60040 MCAP Maternal UPD(20) 368 McArdle disease Maternally-inherited 79140 MCC cardiomyopathy and deafness 6 MCC deficiency Maternally-inherited 85195 McCabe disease cardiomyopathy and hearing loss 6 MCCD Maternally-inherited chronic 562 McCune-Albright syndrome progressive external 93686 MCD ophthalmoplegia 98969 MCD Maternally-inherited CPEO 1851 MCDK Maternally-inherited diabetes and 2471 McDonough syndrome deafness →357225 McDowall syndrome Maternally-inherited infantile 75327 MCDR1 subacute necrotizing 319640 MCDR2 encephalopathy McDuffie hypocomplementemic Maternally-inherited Leigh disease 36412 urticarial vasculitis Maternally-inherited Leigh 36412 McDuffie syndrome syndrome Maternally-inherited mitochondrial 308425 MCEE deficiency 158668 McGrath syndrome dystonia 2473 Maternally-inherited progressive McKusick-Kaufman syndrome external ophthalmoplegia 52416 MCL Maternally-inherited spastic McLeod neuroacanthocytosis 59306 paraplegia syndrome Maternally-inherited SPG 60040 MCM Mathieu-De Broca-Bony syndrome 60040 MCMTC Matthew-Wood syndrome 77298 MCOPS3 Maturity-onset diabetes of the 85275 MCOPS4 young 178364 MCOPS5 Maumenee corneal dystrophy 139471 MCOPS6 Maxillary arteriovenous 2556 MCOPS7 malformation 3434 MCOPS8 Maxillonasal dysostosis 2470 MCOPS9 Maxillonasal dysplasia 77299 MCOPS10 May-Hegglin anomaly 2512 MCPH May-Hegglin syndrome 2001 McPherson-Clemens syndrome May-Hegglin thrombocytopenia 2999 McPherson-Hall syndrome Mayer-Rokitansky-Küster-Hauser 319287 MCRCC syndrome 466718 MCRPE Mayer-Rokitansky-Küster-Hauser 59 MCT8 deficiency syndrome type 1 809 MCTD Mayer-Rokitansky-Küster-Hauser 523 MCUL syndrome type 2 565 MD Mazabraud syndrome 273 MD1 MBEN 258 MDC1A MC 98893 MDC1B MC4R deficiency →370953 MDC1C MC type II →370953 MDC1D

ORPHA number 210272 210272 1836 238744 363649 3097 3097 435438 370997 588 98954 564 3032 564 3032 70588 314376 →1762 93308 93307 93311 98838 3453 2476 57196 2006 2006 141239

1993 2699 98838 63999 370127 370127 231 231 231214 100025 →2882 83313 42 42 171851 3050

Disease name

MdD MdDS MDK MDN syndrome MDP syndrome Meacham syndrome Meacham-Winn-Culler syndrome MEAK MEB disease with bilateral multicystic leucodystrophy MEB syndrome MECD Meckel syndrome Meckel syndrome type 7 Meckel-Gruber syndrome Meckel-like syndrome type 1 Meconium aspiration syndrome Meconium ileus due to guanylate cyclase 2C deficiency MECP2 duplication syndrome MED1 MED4 MED5 Med-DLBCL MEDAC syndrome Medeira-Dennis-Donnai syndrome Medial condensing osteitis of the clavicle Median cleft lip/mandibule Median cleft lower facial stage Median cleft of the upper lip and maxilla Median cleft of the upper lip-corpus 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 Medrano-Roldan syndrome



101

ORPHA number 29073 1309 1332 616 251858 251883 98954 97252 66629 280671 238637 2241

2241 2604 402023 402023 2478 2478 2477 60040

60040

60040 2478

83473

457359

2479 238763 50815 238637 352328 3038 85282 2196 2554

Disease name

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 Megalencephaly Megalencephaly-capillary malformation syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-cystic leukodystrophy syndrome Megalencephaly-polymicrogyriapostaxial polydactyly-hydrocephalus 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

ORPHA number 90186 93964 90186 93964 →90186 314451 98868 98868 252206 97338 252206 404560 79146 79146 550 87503 2482 31202 2483 2484 2484 2485 1879 93571 652 653 247698 247709 276152 401973 319552

99898

319547

319558

319552

99898

Disease name

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 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

ORPHA number 319547

319558

319563

319600

319600

319595

319595 2494 3216 252046 2495 →823 33475 565 565 75858 330021 330021 330021 79140 258 551 54370 386 238593 238593 99701 295004 295173 295171 295010

Disease name

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 Meningioma Meningocele Meningococcal meningitis Menkes disease Menkes syndrome Mental retardation-truncal obesityretinal dystrophy-micropenis 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



102

ORPHA number 295185 295183 157801 95443 289 2496 2496 2632 2633 2634 2631 97360 85170

2496

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

Disease name

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 Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelic dysplasia, Kantaputra 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

ORPHA number 2502

→175 85188 3005 2504 213531 2635 2635 88639 31825 1923 1923 1923 168598 86904 1917 622 308380 2169 2170 395

308425

308425

26 79284 79282 79283 369955 369962 280183 280183

Disease name

ORPHA number

Disease name

Metaphyseal dysostosis-intellectual Methylmalonic aciduria due to 308425 methylmalonyl-CoA epimerase disability-conductive deafness syndrome deficiency Metaphyseal dysplasia without Methylmalonic aciduria due to 308425 methylmalonyl-CoA racemase hypotrichosis deficiency Metaphyseal dysplasia, BraunTinschert type Methylmalonic aciduria due to 280183 transcobalamin receptor defect Metaphyseal dysplasia, Pyle type Methylmalonic aciduria with Metaphyseal dysplasia-maxillary 26 homocystinuria hypoplasia-brachydacty syndrome Metaplastic carcinoma of the breast 79282 Methylmalonic aciduria with homocystinuria, type cblC Metatropic dwarfism Methylmalonic aciduria with Metatropic dysplasia 79283 homocystinuria, type cblD Methacrylic aciduria Methylmalonic aciduria with Methanol poisoning 79284 homocystinuria, type cblF Methimazole embryofetopathy Methylmalonic aciduria with Methimazole/carbimazole 369955 homocystinuria, type cblJ embryofetopathy Methylmalonic aciduria with Methimazole/carbimazole 369962 homocystinuria, type cblX embryopathy 29 Mevalonic aciduria Methionine adenosyltransferase 2710 Meyer-Schwickerath syndrome deficiency 443995 MFDA Methotrexate-associated 79113 MFDM syndrome lymphoproliferative disorders 558 MFS Methyl mercury antenatal infection 284963 MFS1 Methylcobalamin deficiency 284973 MFS2 Methylcobalamin deficiency type 67046 MGA1 cblDv1 111 MGA2 Methylcobalamin deficiency type 67047 cblE MGA3 67048 Methylcobalamin deficiency type MGA4 cblG 66634 MGA5 Methylene tetrahydrofolate 445038 MGA7 reductase deficiency 79329 MGAT2-CDG Methylmalonic acidemia due to →182050 MHA methylmalonyl-CoA epimerase 443162 MHAC deficiency 391417 MHBD deficiency Methylmalonic acidemia due to 391428 MHBD deficiency, classic type methylmalonyl-CoA racemase 391428 MHBD deficiency, infantile type deficiency 391457 MHBD deficiency, neonatal type Methylmalonic acidemia with 99826 MHF homocystinuria 386 MHL Methylmalonic acidemia with 79651 mHPA homocystinuria type cblF 294016 MIC-CAP syndrome Methylmalonic acidemia with 294016 MIC-CM syndrome homocystinuria, type cblC →293843 Michels syndrome Methylmalonic acidemia with 163937 MICPCH homocystinuria, type cblD 2510 Micro syndrome Methylmalonic acidemia with homocystinuria, type cblJ Microbrachycephaly-ptosis-cleft lip 2511 syndrome Methylmalonic acidemia with 2512 homocystinuria, type cblX Microcephalia vera Methylmalonic acidemia, TCb1R Microcephalic osteodysplastic 85172 type dysplasia, Saul-Wilson type Methylmalonic acidemia, TCbIR Microcephalic osteodysplastic 2637 type primordial dwarfism type II



103

ORPHA number 2636

2636

468631 329228 319671 319675 2643 329228 436182

240760 2512 2513 3433 2523 294016 2516 2515 329332

329332

434179

2522 2521 423894

2508

457284

Disease name

Microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type Microcephalic primordial dwarfism due to RTTN deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism, Toriello type Microcephalic primordial dwarfism, Walsh type Microcephalic primordial dwarfisminsulin 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 hypoplasiacardiac conduction defect syndrome Microcephaly-cerebellar hypoplasiacongenital 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-corpus callosum agenesis-abnormal genitalia syndrome Microcephaly-corpus callosum hypoplasia-intellectual disabilityfacial dysmorphism syndrome

ORPHA number 294016 2533 137653 1305 391641 391646 217026 217026 2172 2065

2558

3132

647

137658

457351

457351

1305

391641

391646

1229

2526 2528

3434

Disease name

Microcephaly-cutaneous capillary malformation syndrome Microcephaly-deafness-intellectual 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 Microcephalyhypogammaglobulinemia-abnormal immunity syndrome Microcephaly-immunodeficiencylymphoreticuloma syndrome Microcephaly-intellectual disabilityphalangeal and neurological anomalies syndrome Microcephaly-intellectual disabilitysensorineural deafness-epilepsyabnormal muscle tone syndrome Microcephaly-intellectual disabilitysensorineural hearing loss-epilepsyabnormal muscle tone syndrome Microcephaly-intellectual disabilitytracheoesophageal fistula syndrome Microcephaly-intellectual disabilitytracheoesophageal fistula syndrome type 1 Microcephaly-intellectual disabilitytracheoesophageal fistula syndrome type 2 Microcephaly-intracranial calcification-intellectual disability syndrome Microcephaly-lymphedemachorioretinopathy syndrome Microcephaly-microcornea syndrome, Seemanova type Microcephaly-microphthalmiaectrodactyly of lower limbsprognathism syndrome

ORPHA number 1305

391641

171703 2519

423306

397951 2670 2535 2536 369970

231736

263347 98956 79490 79490 79490 83642 77301 567 90024 101081 217377 280200 280200 2538 1388 476126 1083 89844 50810 2641

Disease name

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 callosumintellectual 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 corneal dystrophy 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 Microlissencephaly Microlissencephaly type A Microlissencephaly-micromelia syndrome Micromelic dwarfism, Fryns type



104

ORPHA number 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 1456 2556 225 1456 100084

Disease name

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 Midaortic syndrome MIDAS syndrome MIDD Middle aortic syndrome Middle ear neuroendocrine tumor

ORPHA number 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 255210 1917 457485 757 →293843 352734

Disease name

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 earlyonset osteoarthritis Miller syndrome Miller-Dieker syndrome Miller-Fisher syndrome Mills syndrome Milroy disease Milroy-like disease MILS Minamata disease MINDS syndrome Mineralocorticoid resistant hyperkalemia Mingarelli syndrome Minimal pigment oculocutaneous albinism type 1

ORPHA number 98832 822 1918 94125 →193 295010 295185 295183 295004 295173 295171 2378

3004

319308

293822

134 353217 225 352470

352470

1933

255235

369897

279934

363534 254875 352447

1194

Disease name

Minimally differentiated acute myeloblastic leukemia Minkowski-Chauffard disease Minoxidil antenatal infection MIRAS Mirhosseini-Holmes-Walton syndrome Mirror foot Mirror foot, bilateral Mirror foot, unilateral Mirror hand Mirror hand, bilateral Mirror hand, unilateral Mirror hands and feets-nasal defects syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome MiT family translocation renal cell carcinoma MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial acetoacetylcoenzyme A thiolase deficiency Mitochondrial aspartate-glutamate carrier 1 deficiency Mitochondrial diabetes Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome, hepatocerebral form 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



105

ORPHA number 1194

1194

238329

238329

550

1933 280288

314637

168609

168609

168609

168609

289560 2598 254864 254864

254864

550

2597 2597

Disease name

ORPHA number

ORPHA number Mitochondrial neurogastrointestinal 399096 encephalomyopathy 45448 Disease name

Mitochondrial encephalo-cardio298 myopathy due to isolated ATP synthase deficiency Mitochondrial non-syndromic 90641 Mitochondrial encephalo-cardioneurosensory deafness myopathy due to isolated Mitochondrial non-syndromic mitochondrial respiratory chain neurosensory deafness with 168609 complex V deficiency susceptibility to aminoglycoside Mitochondrial encephalomyopathy exposure due to combined oxidative Mitochondrial non-syndromic phosphorylation defect 6 neurosensory hearing loss with 168609 Mitochondrial encephalomyopathy susceptibility to aminoglycoside due to COXPD6 exposure Mitochondrial encephalomyopathy, Mitochondrial non-syndromic 90641 lactic acidosis and stroke-like sensorineural deafness episodes Mitochondrial non-syndromic Mitochondrial encephalomyopathysensorineural deafness with 168609 aminoacidopathy syndrome susceptibility to aminoglycoside exposure Mitochondrial HSP60 chaperonopathy Mitochondrial non-syndromic sensorineural hearing loss with Mitochondrial hypertrophic 168609 susceptibility to aminoglycoside cardiomyopathy with lactic acidosis exposure due to MTO1 deficiency Mitochondrial pyruvate carrier Mitochondrial isolated 447784 deficiency neurosensory deafness with Mitochondrial spinocerebellar susceptibility to aminoglycoside 254881 exposure ataxia with epilepsy Mitochondrial isolated Mitochondrial trifunctional protein 746 neurosensory hearing loss with deficiency susceptibility to aminoglycoside 1205 Mitral atresia exposure Mitral regurgitation-deafness3238 Mitochondrial isolated skeletal anomalies syndrome sensorineural deafness with 99062 Mitral valve agenesis susceptibility to aminoglycoside Mitral valve-aorta-skeleton-skin →284963 exposure syndrome Mitochondrial isolated 295012 Mitten hand sensorineural hearing loss with 90036 Mixed AIHA susceptibility to aminoglycoside 809 Mixed connective tissue disease exposure 91138 Mixed cryoglobulinemia Mitochondrial membrane protein93555 Mixed cryoglobulinemia type III associated neurodegeneration 458792 Mixed cystic lymphangioma Mitochondrial myopathy and Mixed cystic lymphatic sideroblastic anemia 458792 malformation Mitochondrial myopathy with 180234 Mixed germ cell tumor reversible complex IV deficiency Mixed germ cell tumor of central Mitochondrial myopathy with 252021 nervous system reversible COX deficiency 252021 Mixed germ cell tumor of CNS Mitochondrial myopathy with Mixed Müllerian cancer of corpus reversible cytochrome C oxidase 213610 uteri deficiency 251656 Mixed oligoastrocytoma Mitochondrial myopathy, 2785 Mixed renal tubular acidosis encephalopathy, lactic acidosis and 2785 stroke-like episodes Mixed RTA 1879 Mitochondrial myopathy-lactic Mixed sclerosing bone dystrophy acidosis-deafness syndrome Mixed sclerosing bone dystrophy 324364 Mitochondrial myopathy-lactic with extra-skeletal manifestations acidosis-hearing loss syndrome Mixed-type autoimmune hemolytic 90036 anemia

98757 565 423461 423470 423461 423470 2598 2478 2526 512 309271 309263 309256 59306 2556 464321 369970 598 399096 3434 592 268249 2241 213512 641 641 137867 293181 293181 2479 1305 391641 391646 298 565 251656 77299 570 99732 308386 308393 308400 1305 391641 90056 178145 169796 169805

Disease name

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 MMEP syndrome MMF MMF embryopathy MMIHS MMMT of the ovary MMN MMNCB MMND MMPEI MMPSI MMR syndrome MMT MMT type 1 MMT type 2 MNGIE 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



106

ORPHA number 169805 169796 263335 552 93111 570 2560

1420 3198 2549 79330 2751 2753 52368 99927 1433 397973 2563 371428 573 573 319254 319254 3057 59 228423 228423 228423 99885 228423 65684 86870 2565 2901 293948 401986 456298 1606 1606 250989 250999 250999 238769 36367 261349

Disease name

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 Monoamine oxidase A deficiency Monocarboxylate transporter 8 deficiency Monocyte-B-natural killer-dendritic 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

ORPHA number 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 96126 904 251061 1636 251066 251071 2496 284160 178303 502 261112 324313 1642 77301 401923 284169 1580 276413 96148 893 444002 444002 2308 313884 94063 289513

Disease name

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 Monosomy 7pter Monosomy 7q11.23 Monosomy 7q31 Monosomy 7qter Monosomy 8p11.2 Monosomy 8p23.1 Monosomy 8q13 Monosomy 8q21.11 Monosomy 8q22.1 Monosomy 8q24.1 Monosomy 9p Monosomy 9p13 Monosomy 9pter Monosomy 9q22.3 Monosomy 9q31.1q31.3 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

ORPHA number 96149 412035 1587 1590 96168 261120 261144 →3157 264200 264200 401935 261183 199318 261190 94065 1596 261211 261211 261236 352629 261250 531 97685 261265 363958 261279 261279 1597 1598 1600 254346 357001 217346 261295 313781 444051 261311 96152 574 261323 261323 268261 268261 96123 567 48652 99226 261476 93277 158003 →969 2637 2636

Disease name

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 16q24.1 Monosomy 16q24.3 Monosomy 17p13.3 Monosomy 17q11 Monosomy 17q12 Monosomy 17q21.31 Monosomy 17q23.1-q23.2 Monosomy 17q23.1q23.2 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 Monosomy Xp21 Monostotic fibrous dysplasia Montgomery syndrome Moore-Federman syndrome MOPD type II MOPD types I and III



107

ORPHA number 52056 77296 75858 35737 582 309297 309310 2570 83467 83467 329813 329813 99228 96193 1692 1723 100071 96059 96060 1747 96061 99776 96063 1698 1703 1706 1708 1711 1724 96068 1052 54057 2717 254516 3347 83595 83595 2572 324972 2152 261537 261552 261537 261537

Disease name

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 Mosaic trisomy 8 Mosaic trisomy 9 Mosaic trisomy 10 Mosaic trisomy 12 Mosaic trisomy 14 Mosaic trisomy 15 Mosaic trisomy 16 Mosaic trisomy 17 Mosaic trisomy 20 Mosaic trisomy 22 Mosaic variegated aneuploidy syndrome Moschcowitz disease MOTA syndrome 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

ORPHA number 280679

2573 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

Disease name

Moyamoya angiopathy-short stature-facial dysmorphismhypergonadotropic hypogonadism syndrome Moyamoya disease Moyamoya disease with early-onset 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

ORPHA number 217093 581 79269 79270 79271 79272 93474 582 309297 309310 67041 583 276212 276223 584 99967 263347 67045 3109 247775 2578 →457240 85274 85324 93952 2598 102 227510 98933 227510 98933 1879 254881 585 2619 480536 480536 480536 480536 1309 99898 319547 319558 319552 99898 319547

Disease name

MPSIIB MPSIII MPSIIIA MPSIIIB MPSIIIC MPSIIID MPSIS MPSIV MPSIVA MPSIVB MPSIX MPSVI MPSVI, rapidly progressing MPSVI, slowly progressing MPSVII MRCLS MRCS syndrome MRGH MRKH syndrome MRKH syndrome type 1 MRKH syndrome type 2 MRX35 MRXS7 MRXS9 MRXSH MSA MSA MSA, cerebellar type MSA, parkinsonian type MSA-c MSA-p MSBD syndrome MSCAE MSD Mseleni joint disease MSH3-related AFAP MSH3-related attenuated familial adenomatous polyposis MSH3-related attenuated familial polyposis coli MSH3-related attenuated FAP MSK MSMD due to complete IFNgammaR1 deficiency MSMD due to complete IFNgammaR2 deficiency MSMD due to complete IL12B deficiency MSMD due to complete IL12RB1 deficiency MSMD due to complete interferon gamma receptor 1 deficiency MSMD due to complete interferon gamma receptor 2 deficiency



108

ORPHA number 319552 319558 319563 319600 319600 319595

319595 157801 65748 511 1332 352470 352470

1933

255235

369897

363534 254875 352447 395 252212 100024 100024 398961 391723 424053 319322 575 2331 2451 423461 423470 576

Disease name

MSMD due to complete interleukin 12 receptor beta 1 deficiency MSMD due to complete interleukin 12B deficiency 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 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 MTT mu-HCD Mu-heavy chain disease Mucinous adenocarcinoma of ovary Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of pancreas 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

ORPHA number 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 79271 79272 93474 582 309297 309310 67041 583 276212

Disease name

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 Mucopolysaccharidosis type IIIC Mucopolysaccharidosis type IIID Mucopolysaccharidosis type IS Mucopolysaccharidosis type IV Mucopolysaccharidosis type IVA Mucopolysaccharidosis type IVB Mucopolysaccharidosis type IX Mucopolysaccharidosis type VI Mucopolysaccharidosis type VI, rapidly progressing

ORPHA number 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 48162 3282 99873 464321

464321 641

Disease name

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 Multifocal acquired demyelinating sensory and motor neuropathy Multifocal atrial tachycardia Multifocal eosinophilic granuloma Multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal lymphangioendotheliomatosisthrombocytopenia syndrome Multifocal motor neuropathy



109

ORPHA number 641 2033 99003 99003 3286 319287 319287 319287 319287 97366 319287

319287 319287 168816 97366 97366 598 598 2091 26791 394532 394529 2505 2678 2678 321 254519

280633 300496 1486 137776

Disease name

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 clear cell renal cell neoplasm of low malignant potential Multilocular cystic renal cell adenocarcinoma Multilocular cystic renal cell carcinoma Multilocular peritoneal inclusion cyst Multilocular renal cyst Multiloculated renal cyst Multiminicore disease Multiminicore myopathy Multinodular goiter-cystic kidneypolydactyly 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 Multiple café-au-lait syndrome Multiple cartilaginous exostoses Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Multiple congenital anomalieshypotonia-seizures syndrome Multiple congenital anomalieshypotonia-seizures syndrome type 2 Multiple contracture syndrome, Finnish type Multiple contracture syndrome, Israeli-Bedouin type

ORPHA number 523

3453 652 653 247698 247709 247709 276152 166002 93308 93307 93311 166016 166024 166011 166016 166032 166029

166024

166011 50920 83454 201 2300 284139

294049 493 65748 587 79455 29073 →636 435329

Disease name

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 Multiple epiphyseal dysplasiamacrocephaly-distinctive facies 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 myeloma Multiple non-ossifying fibromatosis Multiple ossifying fibroma

ORPHA number 321 324299 324299 95494 →1234 2215 3151 65748 585 2398 3237 102 227510 98933 102 404463 2959 2578 83315 2028 99849 171445 97234 588 370997 588 2576 2579

424261 199340 1877 99849 324416

2349 3079

Disease name

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 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



110


659

659 247798 247798 247798 247798 29 2290 2582 589 2583 314946 268249 83482 2584 178512 183713 59298 135 2585 268813 86841

824 168953 168947 168950 86850 29073 93969 2587 437572 437572 437572

Disease name

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 Myasthenia gravis 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 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelofibrosis with myeloid metaplasia Myeloid neoplasm associated with FGFR1 rearrangement Myeloid neoplasm associated with PDGFRA rearrangement Myeloid neoplasm associated with PDGFRB rearrangement Myeloid sarcoma Myelomatosis Myelomeningocele Myeloperoxidase deficiency MYH7-related late-onset scapuloperoneal muscular dystrophy MYH7-related late-onset scapuloperoneal syndrome MYH7-related late-onset SPMD

ORPHA number 182050 182050 182050 182050 182050 2588 109 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 178493 178493

Disease name


Disease name

MYH9-RD Myosclerosis MYH9-related disease Myositis ossificans progressiva 764 MYH9-related disorder Myositis purulenta tropica 764 MYH9-related syndrome Myositis tropicans 306553 Myospherulosis MYH9-related syndromic thrombocytopenia 614 Myotonia congenita Myhre syndrome 99734 Myotonia fluctuans Myhre-Riley-Smith syndrome 99735 Myotonia permanens MYO5B-related progressive familial Myotonia-intellectual disability3101 intrahepatic cholestasis skeletal anomalies syndrome Myoadenylate deaminase Myotonia-painful contractions 99736 deficiency syndrome Myoclonic atonic epilepsy 800 Myotonic chondrodystrophy Myoclonic dystonia 273 Myotonic dystrophy type 1 Myoclonic dystonia 15 606 Myotonic dystrophy type 2 Myoclonic epilepsy in non→52430 Myotonic dystrophy type 3 progressive encephalopathies Myotonic myopathy, dwarfism, Myoclonic epilepsy of infancy 800 chondrodystrophy, ocular and facial anomalies Myoclonic-astastic epilepsy 79105 Myoclonic-astatic epilepsy in early Myxofibrosarcoma childhood Myxoid malignant fibrous 79105 Myoclonus epilepsy and ataxia due histiocytoma to potassium channel mutation 99967 Myxoid/round cell liposarcoma Myoclonus epilepsy associated with 57782 Myxoma with fibrous dysplasia ragged-red fibres Myxoma-spotty pigmentation1359 Myoclonus epilepsy in nonendocrine overactivity syndrome progressive encephalopathies 251643 Myxopapillary ependymoma Myoclonus-cerebellar ataxia2608 N syndrome deafness syndrome N-acetyl-alpha-glucosaminidase 79270 Myoclonus-dystonia syndrome deficiency Myoclonus-dystonia type 15 N-acetylgalactosamine 4-sulfatase 583 Myoclonus-nephropathy syndrome deficiency Myofibrillar myopathy with early N-acetylgalactosamine-6-sulfate 309297 respiratory failure sulfatase deficiency Myopathic intestinal N-acetylglucosamine 1576 pseudoobstruction phosphotransferase deficiency Myopathy and diabetes mellitus N-acetylglucosaminyltransferase 2 79329 Myopathy due to calsequestrin and deficiency SERCA1 protein overload N-acyl-L-amino acid amidohydrolase 137754 Myopathy due to phosphoglycerate deficiency mutase deficiency 103908 Na-H exchange deficiency Myopathy with exercise 178303 Nablus mask-like facial syndrome intolerance, Swedish type 439196 NAE Myopathy with hexagonally cross69087 Naegeli syndrome linked tubular arrays Naegeli-Franceschetti-Jadassohn 69087 Myopathy, lactic acidosis and syndrome sideroblastic anemia Naevus syringocystadenomatosus 840 Myopathy-growth delay-intellectual papilliferus disability-hypospadias syndrome 245 NAFD Myopathy-Moebius-Robin 3137 NAGA deficiency syndrome 79279 NAGA deficiency type 1 Myopericytoma 79280 NAGA deficiency type 2 Myophosphorylase deficiency 79281 NAGA deficiency type 3 Myopic macular degeneration 245 Nager acrofacial dysostosis Myopic maculopathy 245 Nager syndrome



111


423454

→1487 2614 2613 158676 853 101 2229 1063 2615 2822 44 206569 →1359 383 627 35612 85196 247868 83465 2073 644 141103 141103 141219 141118 141115 141112 141112 86879 2662 141083 141083 2399 150 141107 2770 1654 2663 168572 69739 255229 255229 34217 377

Disease name

NAGS deficiency 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 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 Native American myopathy Navajo brainstem syndrome Navajo neurohepatopathy Navajo neuropathy Naxos disease NBCCS

ORPHA number 157850 216873 216866 289560 329284 397725 289560 647 240760 240760 217560 1947 2481 75327 91495 443162 399103 158011 439196 391673 440368 217560 464366 199244 217563

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

79118

398117 457185 289857

Disease name

NBIA1 NBIA1, atypical form NBIA1, classic form NBIA4 NBIA5 NBIA6 NBIA due to C19orf12 mutation NBS NBS-like disorder NBSLD NCHI NCL, Northern epilepsy variant NCM NCMD NCRNA disease NDE1-related microhydranencephaly 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 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome Neonatal DM Neonatal encephalomyopathycardiomyopathy-respiratory distress syndrome Neonatal glycine encephalopathy

ORPHA number 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 314950 94058 654 2849 223 3145 137617 93606

Disease name

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 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



112

ORPHA number 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 252164 635 2481 2481 35664

88639

289560

397725

Disease name

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 Neurilemoma Neuroblastoma 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

ORPHA number 157850 216873 216866 289560 329284

217382

453499

352665

453504

3474 33445 3474 2676 217560 100082 100080 100081 100082 100079 100080 2677 2673 157846 252183 137605 636 363700 97685 638

Disease name

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 Neuroendocrine tumor of rectum Neuroendocrine tumor of the anal canal Neuroendocrine tumor of the appendix Neuroendocrine tumor of the colon 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

ORPHA number 637 93921 2678 638 3148 970 1143 100073 100073 178029 644 98593 3148 431255 85146 100073 100073 100073 94093 36397 163746 137754 206586 71211 1947 99811 2289

639

139512 644 217622 217622 137596 137596

Disease name

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 Neurolymphomatosis Neuromyelitis optica 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



113

ORPHA number 98907 98908 98908 →86872

2690 183707 169142 575 370059 →1359 →1900 377 228264 64754 228254 370059 263432 263425 263432 263425 2612 2612 363558 83471 636 97685 137605 637 93921 2678 69087 638 91349 401869 289356 404454 404454 280576 2770 169079 276608 247598

Disease name

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 Nevus sebaceus syndrome 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

ORPHA number 141179 3051 77292 77293 646 216986 216981 216981 216978 216975 216972 →646 99022 →646 2633 1390 98757 432 2322 647 240760 447731 781 99825 99825 99825 59303 1422 263665 86873 86873 86879 407 86879 86893 436166

436166

436166

Disease name

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 anomaliesdysmorphism syndrome Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia nIHH Niikawa-Kuroki syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder NIK deficiency Nine Mile fever Nipah encephalitis Nipah fever 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

ORPHA number 436166 436166 247868 98907 98908 443167 391504 86867 2615 1884 31204 →98784 86867 137810 477742 90393 86893 2149 33577 48372 158772 85196 2700 1451 73267 231720

631 97566 97566 86861 86861 79394 289362 77259 48372 854 325529

Disease name

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 Non-24-hour sleep-wake syndrome Non-acquired combined pituitary hormone deficiency with spine abnormalities 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



114

ORPHA number 289362 216796 96136 1581 96160 96164 96112 1695 1702 96136 1581 96160 96164 3306 96112 1695 1702 329469 206538 363494 2337 →2199 2972 100070 91349 26137 →79452 →90186 357034 163924 329883

329918 329918 363999 363999 363999 363999 329918

Disease name

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 Non-epidermolytic palmoplantar keratoderma Non-epidermolytic palmoplantar keratoderma Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Non-fluent variant PPA 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

ORPHA number 329918 263548 263548 141179 407 98890 411641 84085 209989 209989 238583 79651 →144 314647 1766

436271

439202 439202 439202 101106 94080 363494 91364 91364 206572 90031 35099 30391 91495 49042 49042 276234 276234 3366

Disease name

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 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 male infertility due asthenozoospermia Non-syndromic male infertility due to sperm motility disorder Non-syndromic metopic craniosynostosis

ORPHA number 35093 35098 96136 1581 96160 96164 3306 96112 1695 1702 411703 209919 602 79452 648 500 363972

363972

2701 230 230 314928 2254 79255 →682 →682 →682 812 →682 432 432 649 649 363558 75327 75327 280620 1947 79293 1134 178 2703 2005

Disease name

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 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 Nose agenesis Notochordal sarcoma Nova syndrome Novak syndrome



115

ORPHA number 314928 3032 480476 634 88616 2701 417 93606 91364 454840 454840 100073 314790 280234 443167 54 398156 1106 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

Disease name

ORPHA number

Disease name

NPH Occipital atretic cephalocele217017 unusual facies-large feet syndrome NPHP3-related Meckel-like 268823 Occipital encephalocele syndrome 198 NR1H4 deficiency Occipital horn syndrome NS Occipital malformations of cortical 280640 development NS-ARID 280640 Occipital MCD NS/LAH Occipital pachygyria and NSHPT 280640 polymicrogyria NSIAD Occlusive idiopathic juxtafoveolar NSIP 353351 retinal telangiectasis NTHL1-related AFAP 51608 Occlusive infantile arteriopathy NTHL1-related attenuated familial 1647 OCCS adenomatous polyposis 99889 Occult ectopic ACTH secretion NTOS 247834 Occult macular dystrophy Null pituitary adenoma 84085 Occult neuropathic bladder Null syndrome 2704 Ochoa syndrome NUT midline carcinoma 247834 OCMD OA1 534 OCR OAFNS 534 OCRL OAS 664 OCT deficiency OAV dysplasia 54 Ocular albinism type 1 OAVS Ocular albinism with congenital Oberklaid-Danks syndrome 352740 sensorineural deafness Obesity due to CEP19 deficiency Ocular albinism with late-onset Obesity due to congenital leptin 1000 sensorineural deafness deficiency Ocular albinism, Nettleship-Falls Obesity due to leptin receptor gene 54 type deficiency 411641 Ocular cystinosis Obesity due to melanocortin 4 Ocular form of osteogenesis receptor deficiency 2788 imperfecta Obesity due to pro1125 Ocular motor apraxia, Cogan type opiomelanocortin deficiency 99922 Ocular pemphigoid Obesity due to prohormone 534 Oculo-cerebro-renal dystrophy convertase I deficiency 534 Oculo-cerebro-renal syndrome Obesity due to SIM1 deficiency Oculo-digito-esophageal-duodenal Obesity-colitis-hypothyroidism1305 syndrome cardiac hypertrophy-developmental delay syndrome Oculo-digito-esophageal-duodenal 391641 syndrome type 1 Obliterative bronchiolitis →1200 Oculo-oto-facial dysplasia Obliterative portal venopathy 2307 Oculo-oto-radial syndrome Obrinsky syndrome 2714 Oculo-palato-cerebral dwarfism Obstructed hemivagina and 2714 ipsilateral renal anomaly Oculo-palato-cerebral syndrome →293843 Oculo-skeletal-abdominal syndrome OCA1 2716 OCA1-MP Oculo-skeletal-renal syndrome OCA1-TS Oculoauricular syndrome, 157962 Schorderet type OCA1A 398156 Oculoauriculofrontonasal syndrome OCA1B 374 Oculoauriculovertebral dysplasia OCA2 Oculoauriculovertebral spectrum OCA3 2549 with radial defects OCA4 374 Oculoauriculovertebral syndrome OCA5 2705 Oculocerebral dysplasia OCA6 Oculocerebral hypopigmentation OCA7 2719 syndrome, Cross type

ORPHA number 2720 1647 2707 534 534 352731 79431 79434 79432 79433 79435 370091 370097 352745 79434 28378 2709 2710 2710 3339 2712 1876 2108 1794 1154 1125 2713 99806 →293843 98897 270 98897 2715 2717 2718 166272 2710 1305 391641 999 2253 2722 2721 →2036

Disease name

Oculocerebral hypopigmentation syndrome, Preus type Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, Kaufman type Oculocerebrorenal dystrophy Oculocerebrorenal syndrome of Lowe Oculocutaneous albinism type 1 Oculocutaneous albinism type 1A Oculocutaneous albinism type 1B Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculocutaneous albinism, Amish type Oculocutaneous tyrosinemia Oculodental syndrome, Rutherfurd type Oculodentodigital dysplasia Oculodentoosseous dysplasia Oculoectodermal syndrome Oculofaciocardiodental syndrome Oculogastrointestinal muscular dystrophy Oculomandibulofacial syndrome Oculomaxillofacial dysostosis Oculomelic amyoplasia Oculomotor apraxia, Cogan type Oculoosteocutaneous syndrome Oculootodental syndrome Oculopalatoskeletal syndrome Oculopharyngeal distal myopathy Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Oculorenocerebellar syndrome Oculotrichoanal syndrome Oculotrichodysplasia ODCD ODDD syndrome ODED syndrome ODED syndrome type 1 O'Doherty syndrome O'Donnell-Pappas syndrome Odonto-onycho dysplasia-alopecia syndrome Odonto-onycho-dermal dysplasia Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome



116

ORPHA number 69082 69082 166272 447777 247685 77295 2724 1811 2723 1487 93929 2676 2792 2712 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

Disease name

Odonto-tricho-ungual-digito-palmar syndrome Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type Odontochondrodysplasia Odontogenic keratocystoma Odontohypophosphatasia Odontoleukodystrophy Odontomatosis-aortae esophagus stenosis syndrome Odontomicronychial dysplasia Odontotrichomelic syndrome ODP OEIS complex Oerter-Friedman-Anderson syndrome OFC syndrome OFCD syndrome 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

ORPHA number 261638 261647 261638 261638 69088 →113 478 1957 85410 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 490

Disease name

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 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, ShprintzenGoldberg type Omphalocele-cloacal exstrophyimperforate anus-spinal defect syndrome Omphalomesenteric cyst

ORPHA number 210115 1183 319266 3191 2737 137675 352540 352540 661 661 99803 99803 →33364 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 270 256

Disease name

OMPP OMS Omsk hemorrhagic fever Onat syndrome Onchocerciasis Oncocytic cardiomyopathy Oncogenic hypophosphatemic osteomalacia Oncogenic osteomalacia Ondine curse Ondine syndrome Ondine-Hirschsprung disease Ondine-Hirschsprung syndrome ONMR syndrome 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-hypotonia-ataxiahypoacusis-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 Oppenheim dystonia



117

ORPHA number 2788 2746 1183 1183 363746 98673 98890 1215

401777 →1215 313800 2086 353253 31142 357154 457252 2750 2751 2752 2753 2919 2754 →2750 2755 141007 2756 141000 141327 141330 434179 141007 2755 141000 1647 52994 268139 2612 166421 49041 414 664

Disease name

OPPG Opsismodysplasia Opsoclonus-myoclonus syndrome Opsoclonus-myoclonus-ataxia syndrome 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 nerve edema-splenomegaly syndrome Optic pathway glioma 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 Orbital cyst with cerebral and focal dermal malformations Orbital leiomyoma Orbital medulloepithelioma Organoid nevus syndrome Orgasm-induced seizures Ormond disease Ornithine aminotransferase deficiency Ornithine carbamoyltransferase deficiency

ORPHA number 415 664 415 415 2319 353253 2750 2751 2752 2753 2919 2754 →2750 2755 141007 2756 141000 141327 141330 434179 2756 141007 2755 141000 2919 93958 141077 30 30 64692 443236 →293843 93382 97335 2760 729 1427 357154 140436 73230 57196 58040 2764 251262

Disease name

Ornithine carrier deficiency Ornithine transcarbamylase deficiency Ornithine translocase deficiency ORNT1 deficiency Orocraniodigital syndrome Orodynia Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 2 Orofaciodigital syndrome type 3 Orofaciodigital syndrome type 4 Orofaciodigital syndrome type 5 Orofaciodigital syndrome type 6 Orofaciodigital syndrome type 7 Orofaciodigital syndrome type 8 Orofaciodigital syndrome type 9 Orofaciodigital syndrome type 10 Orofaciodigital syndrome type 11 Orofaciodigital syndrome type 12 Orofaciodigital syndrome type 13 Orofaciodigital syndrome type 14 Orofaciodigital syndrome with fibular aplasia Orofaciodigital syndrome with retinal abnormalities Orofaciodigital syndrome, Edwards type Orofaciodigital syndrome, Gabrielli type Orofaciodigital syndrome, Thurston type Oromandibular dystonia Oropharyngeal teratoma Oroticaciduria Orotidylic decarboxylase deficiency Oroya fever Orthostatic intolerance due to NET deficiency OSA syndrome Osebold-Remondini syndrome Osgood-Schlatter disease OSLAM syndrome Osler-Vaquez disease OSMED OSMF Osseous venous malformation Ossification anomalies-psychomotor developmental delay syndrome Osteitis condensans of the clavicle Osteoblastoma Osteochondritis dissecans Osteochondritis dissecans and short stature

ORPHA number 3314 2054 2380 97332 97335

2653

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

2773 668 2645 2777 824 399293 2780

2779

2324

Disease name

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 Osteogenesis imperfecta Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenesis imperfecta-congenital joint contractures syndrome Osteogenesis imperfectaretinopathy-seizures-intellectual disability syndrome Osteogenic sarcoma Osteoglophonic dwarfism Osteomesopyknosis Osteomyelofibrosis Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia-intellectual disabilitysparse hair syndrome



118

ORPHA number 91133

53 2785 178389 94063

2787

2786 2788 666 668 2760 178377 75325 2905 1338 99965 664 1308 2791 2791 2792 141136 141136 2793 669 90650 90652 1427 457252 69082 50943 1179 213504 213512 398971 314473 314478 64739 398987

Disease name

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-ichthyosis-premature ovarian failure syndrome 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 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia OTSCC OTUDP syndrome Oudtshoorn disease Ouvrier-Billson syndrome Ovarian adenocarcinoma Ovarian carcinosarcoma Ovarian clear cell adenocarcinoma Ovarian fibroma Ovarian fibrothecoma Ovarian hyperstimulation syndrome Ovarian immature teratoma

ORPHA number 213512 213512 99916 398987 398961 99916 206473 99853 137634 3203 206572 326 832 31 33572 79302 36355 35664 35120 98971 2796 →2995 2798 2309 1952 140989 706 477749 441 95232 180275 180275 357131 52430 52430 178517 180275 991 2802 716 1993 37202 324636

Disease name

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-macrocephaly-facial dysmorphism 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 Pachygyria-epilepsy-intellectual disability-dysmorphism syndrome Pachygyria-intellectual disabilityepilepsy syndrome Pachyonychia congenita Pacman dysplasia PACNS PAD 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

ORPHA number 99736 99736 64686 300501 90797 477993

477993

1388 171695 3138 672 884 2804 737 2184 659 34217 140966

50944

2202 2198 2202

2342

384 2201

85112

1010 1366 34217 →2199

Disease name

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 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 Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome Palmoplantar hyperkeratosisdeafness syndrome Palmoplantar hyperkeratosisesophageal carcinoma syndrome Palmoplantar hyperkeratosishearing loss syndrome Palmoplantar hyperkeratosisperiodontopathia-onychogryposis syndrome Palmoplantar hyperkeratosissclerodactyly syndrome Palmoplantar hyperkeratosis-spastic 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



119


50944

2202 2198 2202

2342

384 2201

85112

→79502 163927 767 98815 424046 93292 65288 97282 309108 2255 811 199337 424058 424053 424080 97278 424073 424065 424039 309031 309031

Disease name

Palmoplantar keratoderma, Nagashima type Palmoplantar keratodermaclinodactyly syndrome Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome Palmoplantar keratodermadeafness syndrome Palmoplantar keratodermaesophageal carcinoma syndrome Palmoplantar keratoderma-hearing 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 PAN Panayiotopoulos syndrome Pancreatic acinar cell carcinoma Pancreatic adenoma Pancreatic and cerebellar agenesis Pancreatic cholera Pancreatic colipase deficiency 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

ORPHA number 424080 677 317473 401764 66624 95513 90695 97336 90159 157850 440427 69126 213817 213726 208600 251962 146 319298 319298 251915 1475 2807 2750 678 86819 228264 313936 90395 158008 679 464458 99056 73260 97286 324299 326 306530 306530 141242 684

Disease name

ORPHA number

Disease name

Pancreatic undifferentiated Paramyotonia congenita of Von 684 carcinoma with osteoclast-like giant Eulenburg cells 2812 Parana hard-skin syndrome Pancreatoblastoma 99889 Paraneoplastic Cushing syndrome Pancytopenia due to IKZF1 Paraneoplastic opsoclonus1183 mutations myoclonus Pancytopenia-developmental delay Paraneoplastic opsoclonus1183 syndrome myoclonus-ataxia syndrome PANDAS 63455 Paraneoplastic pemphigus Panhypophysitis 71505 Paraneoplastic retinopathy Panhypopituitarism 279928 Paraneoplastic uveitis Panner disease 231445 Paraparetic variant of GBS Panniculitis and localized Paraparetic variant of Guillain-Barré 231445 lipodystrophy syndrome Pantothenate kinase-associated Paraplegia-brachydactyly-cone2823 neurodegeneration shaped epiphysis syndrome PAP, Reunion island type Paraplegia-intellectual disability2824 PAPA syndrome hyperkeratosis syndrome 31827 Papillary carcinoma of the cervix Paraquat poisoning uteri 2646 Parastremmatic dwarfism Papillary carcinoma of the corpus 363478 Paratesticular adenocarcinoma uteri 143 Parathyroid carcinoma Papillary fibroelastoma of the heart 443227 Paratyphoid fever Papillary glioneuronal tumor 2825 PARC syndrome Papillary or follicular thyroid 268826 Parietal encephalocele carcinoma Parietal foramina with cleidocranial Papillary renal cell adenocarcinoma 251290 dysostosis Papillary renal cell carcinoma Parietal foramina with cleidocranial 251290 Papillary tumor of the pineal region dysplasia Papillo-renal syndrome 851 Paris-Trousseau thrombocytopenia Papilloma of choroid plexus 306674 PARK9 Papillon-Léage-Psaume syndrome 199351 PARK14 Papillon-Lefèvre syndrome 90307 Parkes Weber syndrome Papular atrichia 171695 Parkinsonian-pyramidal syndrome Papular elastorrhexis Parkinsonism due to ATP13A2 314632 Papular epidermal nevi with skyline deficiency basal cell layers syndrome Parkinsonism with alveolar 178509 hypoventilation and mental Papular mucinosis of infancy depression Papular xanthoma Parkinsonism with dementia of Papulosis atrophican maligna 97355 Guadeloupe Paracetamol poisoning Parkinsonism-dementia-ALS Parachute tricuspid valve 90020 complex Paracoccidioidomycosis 90035 Paroxysmal cold hemoglobinuria Paraganglioma and gastric stromal Paroxysmal dystonic choreathetosis sarcoma 53583 with episodic ataxia and spasticity Paraganglioma-somatostatinomaParoxysmal exertion-induced polycythemia syndrome 98811 dyskinesia Parahemophilia Parálisis facial hereditaria congénita 46348 Paroxysmal extreme pain disorder 157835 Paroxysmal hemicrania con pérdida de audición variable Parálisis facial hereditaria congénita →98784 Paroxysmal hypnagogic dyskinesia →98784 Paroxysmal hypnagogic dystonia con sordera variable →98784 Paroxysmal hypnogenic dyskinesia Paramedian nasal cleft Paroxysmal kinesigenic Paramyotonia congenita 98809 choreathetosis



120

ORPHA number 98809 31709 →98784 447 98810 98810 1214 574 79087 2805 381 90797 90797 1330 1330 1646 401959 98950 90076 79312 261318 261318 101046 101046 2704

744 254693 79292 343 254693 2805 180129 157769 261318 261318

Disease name

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 Partial cryptophthalmia Partial deep dermal and full thickness burns Partial deficiency of methylmalonylCoA 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

ORPHA number 458785 85453 94083 →193 94083 295 1394 42775 289478 1252 1252 2278 3378 →1509 86789 295041 295038 706 228190 706 46627

228190 99108 431341 254531 254525 261304 261304 254525 261304 254525 261304 261304 251004 96190 96191

Disease name

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 Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome Patent ductus arteriosus Patent ductus arteriosus with facial dysmorphism and abnormal 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 20q13.2-q13.3 Paternal monosomy 20q13.2q13.3 Paternal uniparental disomy of chromosome 1 Paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 6

ORPHA number 96192 99324 96334 96194 96195 261524 96194 2439 2439 79136 93126 97563

97563

97564

97564 85410 247839 247846 1330 2038 186 75373 289666 2309 54247 88628 231426 231426 1578 247198 244 178544 178540 90035 2254 2524 97249 166063 166068

Disease name

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-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 Pauci-immune glomerulonephritis without antineutrophil cytoplasmic 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 PCBD deficiency PCCA PCD PCDLBCL,LT PCFCL PCH PCH1 PCH2 PCH3 PCH4 PCH5



121

ORPHA number 166073 284339 324569 369920 97249 97249 411493 71528 454714 2924 178536 438134 46135 140989 101330 163746 90020 293462 289157 439822 765 79246 79243 255138 765 2796 85453 75496 699 2835 98811 439175 439175 66624

66624

93682 33402 33402 477738 93552 263548 263553 444138

Disease name

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 PDHAD PDHBD 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 HCC Pediatric hepatocellular carcinoma Pediatric multiple sclerosis Pediatric systemic lupus erythematosus Peeling skin syndrome type A Peeling skin syndrome type B Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome

ORPHA number 2836 99807 48686 702 702 280229 280210 280219 280210 280234 280224 280270 280293 280282 280288 97352 2837 137672 2840 83628 2839 93333 63275 79480 79481 79479 704 994 1466 705 398053 49 398058 49 2842 313936 11 1335 11 2843 352447 2905

Disease name

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 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Pellagra Pellagra-like skin rash-neurological manifestations syndrome Pellucid marginal degeneration Pelvic dysplasia-arthrogryposis of lower limbs syndrome PELVIS syndrome Pelvis-shoulder dysplasia Pelviscapular dysplasia Pemphigoid gestationis Pemphigus erythematosus Pemphigus foliaceus Pemphigus vegetans Pemphigus vulgaris Pena-Shokeir syndrome type 1 Pena-Shokeir syndrome type 2 Pendred syndrome Penile adenocarcinoma Penile agenesis Penile squamous cell carcinoma Penis agenesis Penoscrotal transposition PENS syndrome Penta-X Pentalogy of Cantrell Pentasomy X Pentosuria PEO-myopathy-emaciation syndrome PEP syndrome

ORPHA number 2880 2576 767 2847 2576 2848 137577 137577 313855 85212 247623 247623 247623

83628

95706 65250 342 42642

436166 →682 397750 397755 79136 139426 563

163746

1795 252164 2400 84142 213812 213630 90120

Disease name

PEPCK deficiency Perheentupa syndrome Periarteritis nodosa Pericardial and diaphragmatic defect Pericardial constriction-growth failure syndrome Pericarditis-arthropathycamptodactyly syndrome Perinatal asphyxia Perinatal hypoxia Perinatal lethal bent bone dysplasia Perinatal lethal Gaucher disease Perinatal lethal hypophosphatasia Perinatal lethal phosphoethanolaminuria Perinatal lethal Rathburn disease Perineal hemangioma-external genitalia malformationslipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome Perineal, scrotal or penoscrotal hypospadias Perineural cyst Periodic disease 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-Hirschsprung disease-Waardenburg syndrome 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



122

ORPHA number 171848 397744 397744 370348 370348 97927 168816 171676 98892 2849 438266 99885

65288

2850 2971 93598 2855 75374 178509 99120 91495 99076 91495 398147 99109 99109 99109 2856 2856 706 97341 300324

300324 2380 1489

Disease name

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 Perrault syndrome PERRS Perry syndrome Persistent eustachian valve 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 patency of the arterial duct Persistent placoid maculopathy Persistent polyclonal B-cell lymphocytosis Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes Perthes disease Pertussis

ORPHA number 708 709 101033 708 709 2776 2963 2963 2869 42642 1980 90042 412206 710 93258 93259 93260 3224 2921 2871 2872 33577 2019 172 79306 79304 79305 480483 480476 91495 397937 319646 443811 443811 251962 1214 757 88938 88939 88940 300525 300530 756 42775 209959 209959 209959 757 209959 79483 79484

Disease name

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 PFIC PFIC1 PFIC2 PFIC3 PFIC4 PFIC5 PFVS PGBM1 PGM1-CDG PGM3-CDG 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

ORPHA number 2874 2875 79483 79485 79484 79485 352636 352636 171848 231426 231426 231426 231426 2876 228410 48652 1919 84064 716 716 226 2209 1912 →168569 75508 69084 294975 2879 2878

3439

534

2880 436 →319646 35069 79318 79319

Disease name

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 Phenotypic diarrhea Phenylalanine hydroxylase deficiency Phenylketonuria Phenylketonuria type 2 Phenylketonuric embryopathy Phenytoin embryofetopathy PHID Phlebectatic osteohypoplastic angiodysplasia PHNED Phocomelia Phocomelia, Schinzel type Phocomelia-ectrodactyly-deafnesssinus arrhythmia syndrome Phocomelia-thrombocytopeniaencephalocele-urogenital malformations syndrome Phosphatidylinositol 4,5biphosphate 5-phosphatase deficiency Phosphoenolpyruvate carboxykinase deficiency Phosphoethanolaminuria Phosphoglucomutase 1 deficiency Phospholipase A2-associated neurodegeneration Phosphomannomutase 2 deficiency Phosphomannose isomerase deficiency



123

ORPHA number 3222 284417 166409 91495 30924 180261 180261 773 2882 →33364 505 2885 2884 →1263 1566 2886 2888 3450

1388

3104 2886 2888 3450

1388 2670 398147 217557 99908 3474 83639 978 999 64755 435 313808 →193

Disease name

ORPHA number

Disease name

Phosphoribosylpyrophosphate Pigmentation defects-palmoplantar 447961 keratoderma-skin carcinoma synthetase superactivity syndrome Phosphoserine aminotransferase deficiency Pigmented hypertrichosis with →168569 insulin-dependent diabetes mellitus Photosensitive epilepsy syndrome PHPV Pigmented paravenous PHSH 251295 retinochoroidal atrophy Phyllode tumor 66627 Pigmented villonodular synovitis Phylloide tumor 280633 PIGN-CDG Phytanic-CoA hydroxylase 480506 PIHL deficiency 169 Pili annulati Phytosterolemia 720 Pili bifurcati PIBIDS syndrome 79492 Pili gemini Piccardi-Lassueur-Little syndrome 79492 Pili multigemini Piebald trait-neurologic defects 2889 Pili torti syndrome Pili torti-developmental delayPiebaldism 2891 neurological abnormalities Piepkorn dysplasia syndrome Pierquin syndrome 2890 Pili torti-onychodysplasia syndrome Pierre Robin sequence-congenital 1410 Pili trianguli et canaliculi heart defect-talipes syndrome 2741 Pillay syndrome Pierre Robin sequence-faciodigital 251612 Pilocytic astrocytoma anomaly syndrome Pilodental dysplasia-refractive Pierre Robin sequence-fetal 2892 errors syndrome chondrodysplasia syndrome 91414 Pilomatricoma Pierre Robin sequence228379 Pilomatrix dysplasia hyperphalangy-clinodactyly syndrome 91414 Pilomatrixoma Pierre Robin sequence-oligodactyly 251615 Pilomyxoid astrocytoma syndrome 2894 Pilotto syndrome Pierre Robin syndrome-congenital Pineal parenchymal tumor of 251919 heart defect-talipes syndrome intermediate differenciation Pierre Robin syndrome-faciodigital 251909 Pineoblastoma anomaly syndrome 251912 Pineocytoma Pierre Robin syndrome-fetal 49382 Pingelapese blindness chondrodysplasia syndrome Pinheiro-Freire Maia-Miranda 3353 Pierre Robin syndromesyndrome hyperphalangy-clinodactyly 247165 Pink disease syndrome 155838 Pinnae fistula or cyst Pierson syndrome →2510 Pinsky-Di George-Harley syndrome PIFP 279904 PIOL PIG →79189 Pipecolic acidemia Pigeon-breeder lung disease 2896 Pitt-Hopkins syndrome PIGL-CDG 221150 Pitt-Hopkins-like syndrome PIGM-CDG →280 Pitt-Rogers-Danks syndrome Pigment anomaly-ectrodactyly93395 Pitt-Williams brachydactyly hypodontia syndrome 251623 Pituicytoma Pigmentary disorder with hearing 95613 Pituitary apoplexy loss 300385 Pituitary carcinoma Pigmentary hairy epidermal nevus Pituitary corticotroph microPigmentary mosaicism, Ito type 96253 adenoma Pigmentary orthochromatic Pituitary deficiency due to empty leukodystrophy 91354 sella turcica syndrome Pigmentary retinopathy-intellectual Pituitary deficiency due to Rathke's disability syndrome 91350 pouch cysts

ORPHA number 91351 99725 2965 95496 91347 96253 2897 1078 2869 157850 216873 216866 238455 716 226 477787 199351 439167 99928 444138 707 300359 79141 79141 35069 199251 251515 158769 454714 29073 329 289666 86855 722 439881 721 477787 52530 79434 85166 85166

Disease name

Pituitary dermoid and epidermoid cysts Pituitary gigantism Pituitary lactotrophic adenoma Pituitary stalk interruption syndrome Pituitary thyrotrophic adenoma Pituitary-dependent Cushing syndrome Pityriasis rubra pilaris Piussan-Lenaerts-Mathieu syndrome PJS PKAN PKAN, atypical form PKAN, classic form PKDYS 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 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, TorranceLuton type



124


300359 137810 99969 293199 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

Disease name


Disease name

Platyspondylic lethal skeletal PMM2-CDG dysplasia, Torrance type PMP Platyspondyly-amelogenesis PMP2-related Charcot-Marie-Tooth 476394 imperfecta syndrome disease type 1 PLCG2-associated antibody PMP2-related Charcot-Marie-Tooth 476394 deficiency and immune neuropathy type 1 dysregulation 476394 PMP2-related CMT1 PLCNA PMP2-related hereditary motor and 476394 Pleomorphic liposarcoma sensory neuropathy type 1 Pleomorphic rhabdomyosarcoma PMP22-RAI1 contiguous gene 477817 Pleomorphic salivary gland duplication syndrome adenoma 99885 PNDM Pleomorphic xanthoastrocytoma 64741 Pneumoblastoma Pleural empyema 55655 Pneumococcal meningitis Pleural mesothelioma 723 Pneumocystosis Pleuro-pericardial cyst Pneumonia caused by Pseudomonas 90066 Pleuro-pulmonary blastoma familial aeruginosa infection tumor susceptibility syndrome 447 PNH Pleuropulmonary blastoma 760 PNP deficiency Pleuropulmonary blastoma familial 760 PNPase deficiency tumor susceptibility syndrome 79096 PNPO deficiency Pleuropulmonary blastoma type 1 PNPO-related neonatal epileptic 79096 Pleuropulmonary blastoma type 2 encephalopathy Pleuropulmonary blastoma type 3 246 POADS PLIN1-related familial partial 2905 POEMS syndrome lipodystrophy 2762 POH PLIN1-related FPLD 2908 Poikiloderma of Kindler PLO-SL Poikiloderma of Rothmund2909 PLOSL Thomson Plott syndrome Poikiloderma of Rothmund221008 PLP1 null syndrome Thomson type 1 PLS Poikiloderma of Rothmund221016 Thomson type 2 PLS 221046 Poikiloderma with neutropenia PLS Poikiloderma with neutropenia, PLSD-T 221046 Clericuzio type Plumbism Poikiloderma-alopeciaPlummer-Vinson syndrome 2825 retrognathism-cleft palate syndrome PM 279947 POIS PM 130 Pokkuri death syndrome PMA 2911 Poland anomaly PMD 2911 Poland sequence PMDS 2911 Poland syndrome PME type 1 313808 POLD PME type 2 2912 Poliomyelitis PME type 3 Poliomyelitis in patients with PME type 5 330009 immunodeficiencies deemed at risk PME type 6 →33364 Pollitt syndrome PME type 7 11 Poly-X PME type 8 767 Polyarteritis nodosa PME type 9 29207 Polyarthritis enterica PMED 85435 Polyarthritis with rheumatoid factor PML Polyarthritis without rheumatoid PMLD 85408 factor PMLD1

ORPHA number 247854

247861 450322 2770

2795 729 729 93339 295146 295144 93336 295150 295148 93337 295154 295152 2919 2754 2917 180229 453533 93308 93307 93311 397937 456369 180182 447877 300573 250972 2925 64745 1243 93569

Disease name

Polyarthritis without rheumatoid factor with anti-nuclear antibodies Polyarthritis without rheumatoid factor without anti-nuclear 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 Polymastia Polymerase proofreading-related adenomatous polyposis Polymicrogyria due to TUBB2B mutation Polymicrogyria with optic nerve hypoplasia Polymicrogyria-turricephalyhypogenitalism syndrome Polymorphic eruption of pregnancy Polymorphic vitelline macular degeneration Polymyalgia rheumatica



125


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 284339 324569 369920 411493

Disease name

Polymyositis Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG Polyneuropathy-endocrinopathyplasma cell dyscrasia syndrome Polyneuropathy-hand defect syndrome Polyneuropathy-hearing loss-ataxiaretinitis pigmentosa-cataract 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 Pontocerebellar hypoplasia type 7 Pontocerebellar hypoplasia type 8 Pontocerebellar hypoplasia type 9 Pontocerebellar hypoplasia type 10

ORPHA number 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 70568 137839 246 246

Disease name

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 Post-transplant lymphoproliferative disease Postanginal sepsis secondary to orophyngeal infection Postaxial acrodysostosis Postaxial acrofacial dysostosis

ORPHA number 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

477673

279947 563 443173 2942

Disease name

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 Postnatal microcephaly-infantile hypotonia-spastic diplegiadysarthria-intellectual disability syndrome Postorgasmic illness syndrome Postpartum cardiomyopathy Postpartum psychosis Postpolio sequelae



126

ORPHA number 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 1366 2202 79501 79502 38 308013 3077 189439

Disease name

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 PPK-CA, Wallis type PPK-deafness syndrome PPKP1 PPKP2 PPKP3 PPKP3 without elastoidosis PPM-X PPNAD

ORPHA number 370348 97278 163927 308013 79502 251295 398980 324977 739 3409 739 177910

98754

98793

177901

177904

398069 177907 398073 171829 398079 2956 293462 245 2957 295006 295006 295177 295175 93339 295146 295144 93336 295150 295148 93337 295154

Disease name

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 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 point mutation Prader-Willi syndrome due to translocation Prader-Willi-like syndrome Prader-Willi-like syndrome due to deletion 6q16 Prader-Willi-like syndrome due to point mutation 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 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

ORPHA number 295152 93338 295161 295159 2921 1309 99860 99860 99860 99860 99861 99861 99861 99861 457088 275555 69665 216445

276432

363665

52183

95486 95486 2114 247638 247638 247638 90160 98914 79410 79410

Disease name

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 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 Premature chromosome condensation with microcephaly 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 Pressure-induced localized lipoatrophy Presynaptic congenital myasthenic syndromes Pretibial DEB Pretibial dystrophic epidermolysis bullosa



127

ORPHA number 2958 1451 930 75564 85138 874 85443 228272 140989 1572 2285 189427 186 186 779 314684 46135 300865 267 169464 46135 140989 244 →244 247522 46135 477781 90042 98976 91138 178528

300865

178522

178544 178528 178540 178533

Disease name

Prieto-Badia-Mulas syndrome Prieur-Griscelli syndrome 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 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 Tcell lymphoma Primary cutaneous diffuse large Bcell lymphoma, leg type Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma Primary cutaneous follicle center lymphoma Primary cutaneous gamma/deltapositive T-cell lymphoma

ORPHA number 178536 86885 86885 451602 86885 98807 99657 98805 98806 98807 370103 306734 464440 48686 90026 357220 412206 98957 90042 1980 90042 3337 3337 633 633 633 633 100085 480506 314950 314950

2232

682 416 93598 93599 93600 682 33208 1572

Disease name

Primary cutaneous marginal zone Bcell lymphoma Primary cutaneous peripheral T-cell lymphoma NOS Primary cutaneous peripheral T-cell 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 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

ORPHA number 30924 75391 90023 90023

447731

75391

431166

431166 73272 90362 480506 458768 279904 279904 140436 137926 35689 314709 137810 319667 319667 228272 168811 98838 98838 238642 252050 54370

306558

Disease name

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 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



128

ORPHA number 391408 824 357225 289356 289356 279897 279897 238606 439737 99878 875 439737 168829 168829 398980 189439 100021 439737 314566 75567 275766 2420 358 412206 171 99856 98841 314701 268861 268861 99867 263310 263324 263317 99867 263310 263324

Disease name

ORPHA number

Disease name

Primary microcephaly-mild Primary thymic epithelial tumor 263317 intellectual disability-young-onset type B diabetes syndrome Primary torsion dystonia with 98807 predominant craniocervical or upper Primary myelofibrosis limb onset Primary non-essential cutis verticis gyrata Primary unilateral adrenal 231580 hyperplasia Primary non-gestational choriocarcinoma of ovary Primary vasculitis of the central 140989 nervous system Primary non-gestational ovarian choriocarcinoma Primitive neuroectodermal tumor of 213812 the cervix uteri Primary oculocerebral lymphoma Primary oculocerebral non-Hodgkin 213630 Primitive neuroectodermal tumor of the corpus uteri lymphoma 854 Primitive portal vein thrombosis Primary orthostatic tremor 3033 Primitive renal tubule syndrome Primary PAN Primordial microcephalic dwarfism, Primary parathyroid hyperplasia 2636 Crachami type Primary pediatric cardiac tumor Primordial short staturePrimary periarteritis nodosa →2637 microdontia-opalescent and rootless Primary peritoneal carcinoma teeth syndrome Primary peritoneal serous 3042 Primrose syndrome carcinoma 397606 Prion protein systemic amyloidosis Primary peritoneal serous/papillary PRKAR1B-related carcinoma 412066 neurodegenerative dementia with Primary pigmented nodular intermediate filaments adrenocortical disease 2965 PRL-secreting pituitary adenoma Primary plasmacytoma of the bone 2965 PRLoma Primary polyarteritis nodosa 326 Proaccelerin deficiency Primary progressive apraxia of 141099 Proboscis lateralis speech 740 Progeria Primary progressive freezing gait 99706 Progeria-associated arthropathy Primary pulmonary arterial Progeria-short stature-pigmented hypertension 2959 nevi syndrome Primary pulmonary lymphoma Progeroid and marfanoid aspectPrimary renal tubular hypokalemic 300382 lipodystrophy syndrome hypomagnesemia with hypocalciuria Progeroid features-hepatocellular Primary retention of teeth 435953 carcinoma predisposition syndrome Primary sclerosing cholangitis 2962 Progeroid syndrome, De Barsy type Primary syringomyelia 2963 Progeroid syndrome, Petty type Primary systemic ALCL Progressive arterial occlusive Primary systemic amyloidosis disease-hypertension-heart defectsPrimary tethered cord syndrome 79094 bone fragility-brachysyndactyly Primary tethered spinal cord syndrome syndrome Progressive autosomal recessive Primary thymic epithelial neoplasm 448251 ataxia-deafness syndrome Primary thymic epithelial neoplasm Progressive autosomal recessive type A 448251 ataxia-sensorineural hearing loss Primary thymic epithelial neoplasm syndrome type AB Progressive bifocal chorioretinal Primary thymic epithelial neoplasm 75373 atrophy type B Progressive bulbar palsy of →97229 Primary thymic epithelial tumor childhood Primary thymic epithelial tumor Progressive bulbar paralysis of →97229 type A childhood Primary thymic epithelial tumor Progressive cavitating 139447 type AB leukoencephalopathy

ORPHA number 79087 247198 1871 220393 220393 3235 216812

217396 1328 495 495 438266

2836

431361

99852 2836 1947

457212

2744

352447 1214 172 79306 79304 79305 480483 480476

Disease name

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 demyelinating neuropathy with bilateral striatal necrosis Progressive diaphyseal dysplasia Progressive diffuse palmoplantar keratoderma Progressive diffuse PPK Progressive encephalomyelitis with rigidity and myoclonus Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy Progressive encephalopathy with leukodystrophy due to DECR deficiency Progressive encephalopathy with severe infantile anorexia Progressive encephalopathy-optic atrophy syndrome Progressive epilepsy-intellectual disability syndrome, Finnish type Progressive essential tremor-speech impairment-facial dysmorphismintellectual 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



129

ORPHA number 75327 1214 199282 73 477814

217260 217260 454706 424027 263516 435438 457265 308 501 263516 163696 402082 280620 435438 424027 457265 352596 308 501 263516 402082 280620 435438 424027

Disease name

Progressive foveal dystrophy Progressive hemifacial atrophy Progressive isolated segmental anhidrosis Progressive massive osteolysis Progressive microcephaly-seizurescortical blindness-developmental 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 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

ORPHA number 457265 352596 726

228012

228012 158022 100070 2062 2762 3322

1159 352718 447977

228012

228012

457395

683 240112 240103 240085

240112

240094 316 316 2965 2965

Disease name

Progressive myoclonus epilepsy type 9 Progressive myoclonus epilepsy with dystonia Progressive neuronal degeneration of childhood with liver disease Progressive neurosensory deafnesshypertrophic 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 pseudorheumatoid arthropathy of childhood Progressive retinal dystrophy due to retinol transport defect Progressive scapulohumeroperoneal distal myopathy Progressive sensorineural deafnesshypertrophic cardiomyopathy syndrome Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Progressive spondyloepimetaphyseal dysplasiashort 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 palsy-pure akinesia with gait freezing syndrome Progressive symmetric erythrokeratodermia Progressive symmetric erythrokeratodermia, Gottron type Prolactin-secreting pituitary adenoma Prolactinoma

ORPHA number 742 492 86872 221126 419 75374 300878 300878 2083 2966 35 35 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

Disease name

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 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



130

ORPHA number 83418 83419 83420 3250 370079 3390 397606 3222 3222 47159 2970 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

Disease name

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 Prune belly syndrome 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

ORPHA number 88939 88940 300525 300530 79443 94089 79444 94090 2976 26790 251962 251962

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

Disease name

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 Pseudopapillary ganglioglioneurocytoma Pseudopapillary neurocytoma with glial differentiation Pseudopapilledemablepharophimosis-hand anomalies syndrome Pseudopelade of Brocq Pseudoprogeria syndrome Pseudopseudohypoparathyroidism 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

ORPHA number 240112 240094 263548 263553 99928 71519 71519 324636 88618 52530 329 247698 97290 269229 2988 86789 70568 2999 →293843 238766

228396

2997 251915 485358 485358 231580 60039 60039 60039 60039 60039 443173 984 60025 440427 247257 →331176

2038

Disease name

PSP-PNFA PSP-pure akinesia with gait freezing PSS type A PSS type B PSST Psychogenic dystonia Psychogenic movement disorders Psychogenic purpura Psychomotor retardation due to Sadenosylhomocysteine hydrolase deficiency PT-VWD PTA deficiency PTC syndrome PTC-RCC PTCD Pterygium colli-intellectual disability-digital anomalies syndrome PTLAH PTLD Ptosis-strabismus-ectopic pupils syndrome Ptosis-strabismus-rectus abdominis diastasis syndrome Ptosis-syndactyly-learning difficulties syndrome Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome Ptosis-vocal cord paralysis syndrome PTPR PTU embryofetopathy PTU embryopathy PUAH Pudendal algia Pudendal nerve entrapment syndrome Pudendal neuralgia Pudendal neuralgia by pudendal nerve entrapment Pudendalgia Puerperal psychosis Pulmonary agenesis Pulmonary alveolar microlithiasis Pulmonary alveolar proteinosis, Reunion island type Pulmonary anthrax Pulmonary arterial hypertensionleukopenia-atrial septal defect syndrome Pulmonary arteriovenous malformation



131

ORPHA number 99049 99050 99083 1207 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

Disease name

Pulmonary artery coming from patent ductus arteriosus Pulmonary artery coming from the aorta Pulmonary artery hypoplasia Pulmonary atresia with ventricular septal defect 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 agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome Pulmonary valve agenesisventricular septal defect-persistent ductus arteriosus syndrome Pulmonary venoocclusive disease Pulmonic stenosis with 'café-au-lait' 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

ORPHA number 308013

438213

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

Disease name

Punctate palmoplantar keratoderma type 3 without elastoidosis PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome PURA-related severe neonatal hypotonia-seizures-encephalopathy 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 point mutation PWS-like PWS-like due to 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

ORPHA number 3005 48104 289478 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

Disease name

Pyle disease Pyoderma gangrenosum Pyoderma gangrenosum-acnesuppurative hidradenitis syndrome 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



132

ORPHA number 2394 255182 79246 255182 766 781 3010 602 781 9 84142 869 220436 781 137888 346 261529 100057 100057 770 769 240760 93321 1121 93321 295071 295069 2252 93321 295071 295069 93321

2307

3026 90021 70475 99789 →2712 3015

Disease name

Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3-binding 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(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 Radicular dentin dysplasia Radiculomegaly of canine teethcongenital cataract Radio-renal syndrome

ORPHA number 295219 295217 295219 295217 71289

→193 294979 295095 295093

420741 3269 3270

3268 100057 100019 100020 168960 1832 50811 268114 99843 3018 3018 3019 1051 3020 86861 3021

293987

293987

71517 141184 280569 178307

Disease name

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 Radiosensitivity-immunodeficiencydysmorphic 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 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 Rapid-onset dystonia-parkinsonism Rapidly involuting congenital hemangioma Rapidly progressive glomerulonephritis RAPK

ORPHA number →1071 213528 137820 98345 98619 101685 101685 213574 75564 438114 268114 1929 1929 3023 31205 436 99852 2840 79127 98961 93111 177 284388 79408 89842 89841 79408 89842 89841 89842 79409 89842 79408 85445 29207 314962 166433 857 1188 2631 96167 96167 1115 79409

Disease name

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 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 Reardon-Hall-Slaney syndrome Rec8 syndrome Rec(8) syndrome Recessive aplasia cutis congenita of limbs Recessive dystrophic epidermolysis bullosa inversa



133

ORPHA number 89842

89842

280384

94125 461 96167 96167 99990 171220 100081 424002 51890 88619 64740 2672

90052

293381 169142

183675

251523

69665

480864

169467 60032 199267 79433 231031 838 97239 523 3221 99995

Disease name

Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type Recessive dystrophic epidermolysis bullosa-generalized other Recessive intellectual disabilitymotor dysfunction-multiple joint contractures syndrome Recessive mitochondrial ataxia syndrome Recessive X-linked ichthyosis 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 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 arrhythmiaintellectual disability syndrome 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

ORPHA number 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 411709 1848 93100 2838 319314 319314 1475 93111 93111

Disease name

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 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

ORPHA number 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

254902 857 1092 294415 3032 774 774 93975 100057

100057 294415

Disease name

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 ataxia-skeletal 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 Renal tubulopathy-encephalopathyliver failure syndrome Renal-ear-anal-radial syndrome Renal-genital-middle ear anomalies Renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasiaDandy-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



134

ORPHA number 3033 3242 73273 424 99832 247257 247257 79127 1662 33355 99002 100000 79145 178307 86900 458763 284247 75326 75326 71213 1574 1571

397758

397758

436245 75326

3018 319640 247691 353356 791 85332

85332

Disease name

Renotubular dysgenesis Renpenning syndrome Resistance to IGF-1 Resistance to thyroid stimulating hormone Resistance to thyrotropin-releasing hormone syndrome Respiratory anthrax Respiratory anthrax disease Respiratory bronchiolitis-interstitial 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 Retinal dystrophy with inner nuclear layer and ganglion cell anomalies Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Retinal dystrophy-juvenile cataractshort stature syndrome Retinal hemorrhage with vascular tortuosity Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome Retinal macular dystrophy type 2 Retinal vasculopathy and cerebral leukoencephalopathy 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

ORPHA number 85332

886

140976

3085

436245 52427 790 838 3087 2305 40366 2305 352718 90050 139455 3088

838 53540 269200 90050 778 3095 294049 99852

284388 254864 254864 3088 3088 3096 199267 779 244310 251975 71275 71275

Disease name

Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion Retinitis pigmentosa-deafness syndrome Retinitis pigmentosahypopituitarism-nephronophthisisskeletal dysplasia syndrome Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Retinitis punctata albescens Retinoblastoma 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 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


3097 780 213802 213615 3099 85408 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

Disease name

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 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



135

ORPHA number 440706 141184 1399 240071 2323 3101 →2995 2511 →2353 3102 1784 1794 28378 606 606 83312 420741 64744 64744 91483 3163 782 319251 99081 99119 99119 99119 99110 99110 99110 97244 97244 1764 217335 217335 1437 96171 96172 1447 251043 1448 1449 1450

Disease name

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 Almeida-Rodini syndrome Richieri Costa-Pereira syndrome Richieri-Costa-Colletto syndrome Richieri-Costa-Gorlin syndrome 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 chromosome 1 Ring chromosome 2 Ring chromosome 3 Ring chromosome 4 Ring chromosome 5 Ring chromosome 6 Ring chromosome 7 Ring chromosome 8

ORPHA number 96173 1438 96175 1439 96176 1440 96177 96178 1441 1442 1443 1444 1445 1446 261529 91481 91481 169 97238 206575 7 1803 294049 93307 137634 420741 71273 3103 3103 3104 97360 97360 3105 97360 →794 2780 529 83311 49382 49382 1258 49827 293987 293987 353298 221139 →1855 247775 3109

Disease name

Ring chromosome 9 Ring chromosome 10 Ring chromosome 11 Ring chromosome 12 Ring chromosome 13 Ring chromosome 14 Ring chromosome 15 Ring chromosome 16 Ring chromosome 17 Ring chromosome 18 Ring chromosome 19 Ring chromosome 20 Ring chromosome 21 Ring chromosome 22 Ring chromosome Y Ring dermoid of cornea Ring dermoid syndrome Ringed hair disease Rippling muscle disease Rippling muscle disease with myasthenia gravis Ritscher-Schinzel syndrome Rivera-Perez-Salas syndrome RLS rMED RNF135-related overgrowth syndrome RNF168 deficiency 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 Rodini-Richieri Costa syndrome Rogers syndrome ROHHAD ROHHADNET Roifman syndrome Roifman-Chitayat syndrome Roifman-Melamed syndrome Rokitansky sequence Rokitansky syndrome


163721 101016 101016 1214 3110 1088 90050 158014 158014 1837 329 329 251975 2909 221008 221016 3111 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

Disease name

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 Rommen-Mueller-Sybert 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 Rotor syndrome 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



136

ORPHA number 293848 461 16 16 3105 319239 3124 3124 286 98841 3027

397927

→83628 2351 3027 1773 85165 794 2872 300493 83484 2256 1409 2613 140969 213557 213557 309334 370938 112 112 2230 369992 53721 397623 228123 96167 796 309169 309155 309162 71272

Disease name

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 bodiespersistent notochordal canal syndrome Sacral hemangiomas-multiple congenital abnormalities syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome Sacrococcygeal dysgenesis association 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 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

ORPHA number 70595 2378 581 79269 79270 79271 79272 2323 588 79263 79263 2155 98868 247234 793 54368 797 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

Disease name

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 Sarcoidosis 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

ORPHA number →98769 98759 98771 98772 101110 98773 →98772 101108 101111 101112 98764 101109 208513 211017 217012 276183 1955 276193 276198 363710 423296 423275 458798 458803 26792 26792 254881 1003 370052 2036 64753 94124 840 168624 2839 431255 431255 64753 1170 95433 95434 83472 284332 284324 88644 139485 284289 284271 284282 324262

Disease name

SCA16 SCA17 SCA18 SCA19/22 SCA20 SCA21 SCA22 SCA23 SCA25 SCA26 SCA27 SCA28 SCA29 SCA30 SCA31 SCA32 SCA34 SCA35 SCA36 SCA37 SCA38 SCA40 SCA41 SCA42 SCAD deficiency SCADD SCAE 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



137

ORPHA number 352403 404499 412057 453521 363432 448251 397709 466794 404493 3134 90080 95434 85297 85292 314978 284400 98967 370396 98967 420402 449280 398069 1383 71212 370039 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

Disease name

SCAR14 SCAR15 SCAR16 SCAR17 SCAR18 SCAR19 SCAR20 SCAR21 SCAR23 SCARF syndrome Scarring in glaucoma filtration surgical procedures SCASI SCAX3 SCAX4 SCAX5 SCCB SCCD SCCO SCD SCD syndrome Scedosporiosis Schaaf-Yang syndrome Schaap-Taylor-Baraitser syndrome SCHAD deficiency Schauder syndrome 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

ORPHA number 50944 93921 800 800 3206 800 277 275 357237 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 331176 439746 466677 832 1514 806 1514 1509 86813 83317 794

Disease name


Disease name

Schöpf-Schulz-Passarge syndrome SD1, Castilla type Schwannomatosis SD1, Lueken type 295191 SD1, Montagu type Schwartz-Jampel syndrome 295187 SD1, Weidenreich type Schwartz-Jampel syndrome type 1 295187 SD1a Schwartz-Jampel syndrome type 2 295189 SD1b Schwartz-Jampel-Aberfeld syndrome 295191 SD1c SCID due to adenosine deaminase 295193 SD1d deficiency 295197 SD2, Debeer type SCID due to ARTEMIS deficiency 295199 SD2, Malik type SCID due to CARD11 deficiency 295195 SD2, Vordingborg type SCID due to complete RAG1/2 295195 SD2a deficiency 295197 SD2b SCID due to CORO1A deficiency 295199 SD2c SCID due to coronin-1A deficiency 93404 SD3 SCID due to CTPS1 deficiency 93406 SD5 SCID due to DCLRE1C deficiency 84064 SD/THE SCID due to DNA-PKcs deficiency 263463 SDCD, CHST3 type SCID due to IKK2 deficiency 168577 sdCHC SCID due to LCK deficiency 300869 SDRPL SCID due to lymphocyte-specific 811 SDS protein tyrosine kinase deficiency 373 SDYS SCID with leukopenia 158029 Sea-blue histiocytosis SCID, Athabascan type 1778 Seaver-Cassidy syndrome SCID, Athabaskan type Sebaceous nevus-central nervous SCIDX1 system malformations-aplasia cutis 370052 Scimitar syndrome congenital-limbal dermoidSCLC pigmented nevus syndrome Scleredema Sebaceous nevus-CNS Scleroatonic muscular dystrophy malformations-aplasia cutis 370052 congenital-limbal dermoidScleroatrophic syndrome pigmented nevus syndrome Scleromyxedema →182050 Sebastian syndrome Scleromyxedema without 841 Sebocystomatosis monoclonal gammopathy Seborrhea-like dermatitis with Sclerosing dysplasia of bone168606 psoriasiform elements ichthyosis-premature ovarian failure 79480 syndrome Seborrheic pemphigus 98873 Sclerosing mediastinitis SEC23B-CDG 808 Sclerosing mesenteritis Seckel syndrome 141022 Second branchial cleft anomaly Sclerosing perineurioma 141022 Second branchial cleft cyst Sclerosteosis 141022 Second branchial cleft fistula Sclerotylosis 139420 Secondary acute transverse myelitis SCLS 85445 SCN4 Secondary amyloidosis Scondary PAN Secondary central precocious 169618 puberty Scorpion envenomation 314962 Secondary HES SCOT deficiency Secondary hypereosinophilic Scott craniodigital syndrome 314962 syndrome Scott syndrome Secondary hypertrophic Scott-Bryant-Graham syndrome 2615 osteoperiostosis with pernio Scott-Taor syndrome Secondary hypoparathyroidism due SCRA 140286 to impaired parathormon secretion Scrub typhus Secondary intestinal SCS 90363 lymphangiectasia



138

ORPHA number 399180 399180 3452 420259 439746 439746 420259 99930 447774 95427 99857 364055 459051 163654 94068 567 647 2528 251618 2759 67039

137608

314662 455 35069 79156 466926

199343

35858 183675 331235 331235 165994 99798 281122 90397 65748 →1768 3232

Disease name

Secondary non-traumatic avascular necrosis Secondary non-traumatic AVN Secondary non-tropical sprue Secondary PAP Secondary periarteritis nodosa Secondary polyarteritis nodosa 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 Selig-Benacerraf-Greene syndrome Sellars-Beighton syndrome

ORPHA number 100069 100069 100069 93356 171866 93351 156728 156728 93356 93352 93359 93360 93359 93360 420402 220386 842 842 329284 79480

397596

1369 2183 330001 1292 84081 3156 1515 217622

857

217622 66633 97229

70595 477 90118 70594 90051 180154 137839

Disease name

Semantic dementia Semantic primary progressive aphasia Semantic variant PPA SEMD type 2 SEMD, aggrecan type SEMD, Irapa type SEMD, MATN3-related SEMD, matrilin-3 type SEMD, Missouri type SEMD, Shohat type SEMD-JL SEMD-MD SEMDJL1 SEMDJL2 Semicircular canal dehiscence syndrome 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 loss-early graying-essential tremor syndrome Sensorineural hearing losspontobulbar palsy syndrome Sensory ataxic neuropathydysarthria-ophthalmoparesis syndrome Senter syndrome SEOAN due to MFN2 deficiency Sepiapterin reductase deficiency Sepsis in premature infants Septate vagina Septic phlebitis of the internal jugular vein

ORPHA number 3157 3157 280195 280195 139466 43116 43116 43116 43116 43116 424073 206470 168829 →955 35686 157798 75508 199343 1807 85165

438207 314911 277

275 357237 331206 228003 228003 420573 275 317425 397787 280142

280142

Disease name

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 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 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 coronin-1A deficiency Severe combined immunodeficiency due to CTPS1 deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to LCK deficiency Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency



139

ORPHA number 33355 275 275 209370 300298 300298 171430 99749 331176

331176

369992 →300751 →300751 98896 364055

228374

90118 228374

329249

440427 169793 169802 352577 79408 79408 2109 466026

ORPHA number Severe combined immunodeficiency 169802 with leukopenia 169793 Disease name

Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type Severe congenital encephalopathy due to MECP2 mutation Severe congenital hypochromic anemia with ringed sideroblasts Severe congenital hypochromic sideroblastic anemia Severe congenital nemaline myopathy Severe congenital neutropenia type 3 Severe congenital neutropenia type 4 Severe congenital neutropeniapulmonary hypertension-superficial venous angiectasis syndrome Severe dermatitis-multiple allergiesmetabolic wasting syndrome Severe dilated cardiomyopathy due to lamin A/C mutation Severe dilated cardiomyopathy with or without myopathy Severe dystrophinopathy, Duchenne type Severe early-childhood-onset retinal dystrophy Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency Severe early-onset axonal neuropathy due to MFN2 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 Hallermann-Streiff-François syndrome Severe hemolytic anemia due to G6PD deficiency

467176

98920 404521 280763

420561

466688

94066

438178

438178

438178

436141

363686

397933

404473

391307

324307 2879 1236

369939

33069

Disease name

Severe hemophilia A Severe hemophilia B 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 disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Severe intellectual disabilityepilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disabilityepilepsy-cataract syndrome due to 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 facelong fingers syndrome Severe intellectual disabilityprogressive postnatal microcephalymidline 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

ORPHA number 33069

314655

397593 209370 363400 363400 216812 411543 280210 468726 411543 411543 163703

169095

3078 238329 363489 139466 3162 3162 373 373 79022 457083 2063 35710 69076 2462 798 2407 897 29822 1506 809 281122 91355 1147 3329 2440

Disease name

Severe myoclonus epilepsy of infancy Severe neonatal hypotonia-seizuresencephalopathy 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 osteogenesis imperfecta Severe phosphoribosylpyrophosphate synthetase superactivity Severe PMD Severe primary trimethylaminuria 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 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



140

ORPHA number 3329 90038 810 158014 1008 99063 251515 26792 66518 294996 295130 295128 935 93270 93269 93271 93268 93268 93269 93270 93271 →1263 314811 629 633

314811

632

314802 314802 140941 220465 2867

Disease name

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 Short fingers Short fingers, bilateral Short fingers, unilateral 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, 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 X-linked 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

ORPHA number 435804

397623

464288

2994

2866

171706

2332

1088

→2995

420794

1937

423454

314394

391677

3102

3102

85442

2868 2865 2863 3163 2832 251515

Disease name

Short stature-advanced bone ageearly-onset osteoarthritis syndrome Short stature-auditory canal atresiamandibular hypoplasia-skeletal anomalies syndrome Short stature-brachydactylyobesity-global developmental delay syndrome 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-facial and skeletal anomalies-intellectual disabilitymacrodontia syndrome Short stature-heart defectcraniofacial anomalies syndrome Short stature-intellectual disabilityeye 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-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic atrophy-PelgerHuët 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 diseasecharacteristic 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

ORPHA number 294998 295134 295132 357175

57145

935 79157 2580 1940 314795 567 2462 3165 811 811 811 812 87876 3166 3166 98920 →33364 611 232 232 251359 251365 251370 251375 210272 838 168593 54028 2267 3167 →244 369861 314786 71276 3168 60014 100998

Disease name

Short toes Short toes, bilateral Short toes, unilateral Short ulna-dysmorphism-hypotoniaintellectual disability 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 defects-familial 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 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 Sidransky-Feinstein-Goodman syndrome Siegler-Brewer-Carey syndrome Siewert syndrome SIFD syndrome Silent pituitary adenoma Silent sinus syndrome Sillence syndrome Silver staining Silver syndrome



141

ORPHA number 813 813 231137 231137 231144 397590 231140 231137

96182

231147

231137 231137 1968 91139 373 373 373 79022 97337 50809 2286 439755 439755 439755 85191 85191 1260 324321 158014 890 247698 3169 2882 157769 157769 101063 101063 816

Disease name

Silver-Russell dwarfism Silver-Russell syndrome 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-Penchaszadeh-Bustos syndrome Simple cryoglobulinemia Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 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 Sirenomelia Sitosterolemia Situs ambiguous Situs ambiguus Situs inversus Situs inversus totalis Sjögren-Larsson syndrome

ORPHA number 800 800 3206 95455 1426 2565 1858 1436

477831

293165

293165 178475 178475 52503 238459 356961 370943 99843 3144 468699 468699 93552 3385 88633 818 70472 3156 584 70 83330 83418 83419 83420 83330 83418 83419 83420 83330 83418 83419 83420 83330 83418 83419 83420

Disease name

SJS SJS1 SJS2 SJS-TEN Skeletal dysplasia, Greenberg type Skeletal dysplasia-brachydactyly syndrome Skeletal dysplasia-epilepsy-short stature syndrome Skeletal dysplasia-intellectual disability 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 SLK SLOS SLSJ-COX deficiency SLSN Sly disease SMA SMA1 SMA2 SMA3 SMA4 SMA type 1 SMA type 2 SMA type 3 SMA type 4 SMA type I SMA type II SMA type III SMA type IV SMA-I SMA-II SMA-III SMA-IV

ORPHA number 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 818 819 178355 2286 158775 3198 86854 449285 820 48377 91496 3063 3157 67039 306577 99903 314394 100002 2234 137608 97230

Disease name

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-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia SMMCI Smouldering systemic mastocytosis SMS SMZL Snakebite envenomation Sneddon syndrome 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



142

ORPHA number 424065 83468 2126 79455 2286 100035 86855 209964 2612 314769 97283 2564 1064 1529 1355 391677 1471 59181 821 420179 98868 352403 352403 79132 279882 1182 2572 2572 99015 99015 100990

2815

101003

139480

139480 431329 99015 99013 100998

Disease name

Solid pseudopapillary carcinoma of pancreas Solitary bone cyst Solitary fibrous tumor Solitary mastocytoma Solitary median maxillary central incisor syndrome Solitary necrotic tumor of the liver Solitary plasmacytoma Solitary rectal ulcer syndrome Solomon syndrome Somatomammotropinoma Somatostatinoma Sommer-Hines syndrome Sommer-Rathbun-Battles syndrome Sommer-Young-Wee-Frye syndrome Sonoda syndrome SOPH syndrome Sorsby syndrome Sorsby's fundus dystrophy Sotos syndrome Sotos syndrome 2 Southeast Asian ovalocytosis SPARCA SPARCA1 Sparse hair-short stature-skin anomalies syndrome Spasmus nutans Spastic ataxia with congenital miosis 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


2822

2820 2821 320406 329475 2826 464282 100996

464282

3011

447997 210141 3011

447997

401866 251282 397946 314603 254343 313772 98 1182 158 295195 295197 295199 295197 295199 295195

Disease name

Spastic paraplegia-epilepsyintellectual disability syndrome Spastic paraplegia-facial-cutaneous 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 Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Spastic quadriplegic cerebral palsy 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

ORPHA number 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 209951 100999 101000 101001 101003 101004 101005 101006 101007 101008 101009 101010 101011 171622 171607 171629 320365 171612 171617 139480 320355 171863 320370 320401 320396 320391

Disease name

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 SPG18 SPG19 SPG20 SPG21 SPG23 SPG24 SPG25 SPG26 SPG27 SPG28 SPG29 SPG30 SPG31 SPG32 SPG34 SPG35 SPG36 SPG37 SPG38 SPG39 SPG41 SPG42 SPG43 SPG44 SPG45 SPG46



143

ORPHA number 306511 320385 319199 320380 320375 320411 431329 397946 401795 401800 401780 401785 401805 401810 320396 401815 401820 401825 401830 401835 401840 401849 444099 468661 459056 466722 268129 3449 306553 79264 314432 268369 3176 53721 1217 90058 1145 98920 404521 83420 73245

2590 210584 210584

Disease name

SPG48 SPG49 SPG53 SPG54 SPG55 SPG56 SPG57 SPG58 SPG59 SPG60 SPG61 SPG62 SPG63 SPG64 SPG65 SPG66 SPG67 SPG68 SPG69 SPG70 SPG71 SPG72 SPG73 SPG74 SPG75 SPG77 Spheroid body myopathy 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 atrophy-progressive myoclonic epilepsy syndrome Spindle cell hemangioendothelioma Spindle cell hemangioma

ORPHA number 1955 412057 453521 404493 98755 94124 98756 98757 276238 276244 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 276193 276198 363710 423296 423275 458798 458803 363710

Disease name

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 1 with axonal neuropathy 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 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 23 Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 26 Spinocerebellar ataxia type 27 Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 30 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 37 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 40 Spinocerebellar ataxia type 41 Spinocerebellar ataxia type 42 Spinocerebellar ataxia with altered vertical eye movements

ORPHA number 64753 254881 276241 2074 1185 3177 99903 757 300869 300869 86854 2063 47612 294994 2439 295126 295124 294992 2440 2437 295122 295120 2440 71271 2437 3329 958 2329 1756 3329 320406 93357 1190 228387 85194 3180

Disease name

Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia with epilepsy Spinocerebellar ataxia, Thomas type Spinocerebellar ataxia-amyotrophydeafness 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 B-cell lymphoma Splenic marginal zone lymphoma Splenogonadal fusion-limb defectsmicrognathia syndrome Splenomegaly-neutropeniarheumatoid arthritis syndrome Split foot 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-hand/foot malformation associated with aplasia of long bones SPOAN SPONASTRIME dysplasia Spondylo-humero-femoral dysplasia Spondylo-megaepiphysealmetaphyseal dysplasia Spondylo-ocular syndrome Spondylocamptodactyly syndrome



144


329252 1855 →1855 1855 93346 93356 93360 93359 93359 93360 93360 93360 93360 171866 93347 168448 168454 99642 93351 370015 156728 93347 93356 93282 93282 93352

Disease name

ORPHA number

Disease name

Spondylocarpotarsal synostosis Spondyloepimetaphyseal dysplasia, 93357 Sponastrime type Spondylocostal dysostosis-anal and genitourinary malformations Spondyloepimetaphyseal dysplasia168451 abnormal dentition syndrome syndrome Spondylocostal dysostosisSpondyloepimetaphyseal dysplasia168443 hypospadias-intellectual disability hypotrichosis syndrome syndrome Spondyloepimetaphyseal dysplasia93358 short limb-abnormal calcification Spondyloenchondrodysplasia syndrome Spondyloenchondrodysplasia with immune dysregulation Spondyloepiphyseal dysplasia 94068 congenita Spondyloenchondromatosis 93284 Spondyloepiphyseal dysplasia tarda Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepiphyseal dysplasia tarda, 163665 Kohn type Spondyloepimetaphyseal dysplasia type 2 Spondyloepiphyseal dysplasia tarda1159 progressive arthropathy syndrome Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Spondyloepiphyseal dysplasia with Spondyloepimetaphyseal dysplasia 263463 congenital joint dyslocations, CHST3 type with joint laxity Spondyloepimetaphyseal dysplasia →93284 Spondyloepiphyseal dysplasia, Byers type with joint laxity type 1 Spondyloepimetaphyseal dysplasia 163654 Spondyloepiphyseal dysplasia, Cantu type with joint laxity type 2 Spondyloepiphyseal dysplasia, Spondyloepimetaphyseal dysplasia 93283 Kimberley type with joint laxity, leptodactylic type Spondyloepimetaphyseal dysplasia 163668 Spondyloepiphyseal dysplasia, MacDermot type with multiple dislocations Spondyloepimetaphyseal dysplasia 263482 Spondyloepiphyseal dysplasia, Maroteaux type with multiple dislocations, Hall type Spondyloepimetaphyseal dysplasia, 163649 Spondyloepiphyseal dysplasia, Nishimura type aggrecan type Spondyloepimetaphyseal dysplasia, →263463 Spondyloepiphyseal dysplasia, Omani type anauxetic type Spondyloepimetaphyseal dysplasia, 163662 Spondyloepiphyseal dysplasia, Reardon type Bieganski type Spondyloepimetaphyseal dysplasia, 459051 Spondyloepiphyseal dysplasia, Stanescu type Geneviève type Spondyloepiphyseal dysplasiaSpondyloepimetaphyseal dysplasia, 163654 brachydactyly-speech disorder Handigodu type syndrome Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasiaIrapa type Spondyloepimetaphyseal dysplasia, 163649 craniosynostosis-cleft palatecataract-intellectual disability Isidor type syndrome Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasiamatrilin-3 type Spondyloepimetaphyseal dysplasia, 163668 myopia-sensorineural deafness syndrome Menger type Spondyloepiphyseal dysplasiaSpondyloepimetaphyseal dysplasia, 1830 nephrotic syndrome Missouri type Spondyloepiphyseal dysplasiaSpondyloepimetaphyseal dysplasia, →93284 punctate corneal dystrophy Pakistani type syndrome Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasiaPAPSS2 type 353298 retinal dystrophy-immunodeficiency Spondyloepimetaphyseal dysplasia, syndrome Shohat type

ORPHA number →1855 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 combined immunodeficiency 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 dysplasia-short 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 steroid-resistant nephrotic syndrome Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation



145

ORPHA number 93220

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

Disease name

Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Sporadic idiopathic steroid-resistant 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

ORPHA number 424039 398058 424002 418959 424019 213767 213716 457252 423968 423968 324737 83601 330001 22 466926 2806 50944 370927 2323 36236 83484 2454 1798 3235 140917 36238 36236 36235 99919 99919 140952 827 827 85146 166427 391311 2314 438159 329284 841

Disease name

Squamous cell carcinoma of pancreas Squamous cell carcinoma of penis 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 oral tongue Squamous cell carcinoma of the small bowel Squamous cell carcinoma of the small intestine 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 STAR syndrome Stargardt 1 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

ORPHA number 3184 438117 240071 565 565 273 273 3186 168953 99087 210115 3194 →42775 753 3196 461 83601 93207 →69061 909 46059 36426 828 90653 90654 166100 166100 3197 443804 3198 3198 2833 85414 233 3199 425120 2972 3200 3074 3201 2878 168577 98868

Disease name

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 atrophy 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 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 Stiff man syndrome 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



146

ORPHA number 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 3206 166277 101029 79093 79093 163525 2806 206594

206594 98824 79093 2806 2806

Disease name

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 Stüve-Wiedemann/Schwartz-Jampel 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

ORPHA number 356

99113 99113 3191 48377 48377 99796 313808 99796 86884 86884 251618 101030 251639 98957 98959 155878 3190 1606 96168 180129 →2609 22 832 832 832 702 168593 130 2752 3412 99732

308386

308393

Disease name

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 T-cell 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 septate uterus Succinic acidemia 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 Sugarman 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

ORPHA number 308400 99731 65682 254395 3210 57145 130 455 98961 79490 79490 247245 88633 155884 180182 96170 141096 295002 295142 295140 295002 295142 295140 1450 1461 764 466695 3193 3192 391351 391351 391351 838 331226 447740

169085

391311 3193 86813 3243 247165 247165

Disease name

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 lymphangioma Superficial lymphatic malformation Superficial siderosis 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 Supernumerary ring/marker 8 Superoinferior ventricles Suppurative myositis Supratip dysplasia Supravalvular aortic stenosis Supravalvular pulmonary stenosis SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related CMT4 SURF1-related severe demyelinating Charcot-Marie-Tooth 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



147

ORPHA number 3205 242 90038 306731 295138 295136 1570 60015 1314 79098 79098 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

Disease name

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 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

ORPHA number 3258 2498 157801 157801 295012 357332

3253 3259 85203 140952 →1159 2143 52 261619 261629 261600 84064 84064 77298 85275 178364 139471 2556 3434 2470 77299 178364

228426 98606 281090 281090 457223

457223 457223 281090

Disease name

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 Syndactyly-preaxial polydactylysternal deformity syndrome Syndactyly-telecanthus-anogenital and renal malformations syndrome Syndesmodysplasic dwarfism Syndrome of ocular and facial anomalies, telecanthus and deafness 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/Tricho-hepatoenteric 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 recessive X-linked ichthyosis 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

ORPHA number 85274 85279 85295 85286 319332 319332 3262 3263 35098 3273 3273 793 93403 295195 295197 295199 295197 295199 295195 3275 93926 840 840 314701 188 →528 364033

364033

364033 401996 98849

90069 439762 439762 439762 85414 158 90291 90291

Disease name

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 Syngnathia multiple anomalies Syngnathia-cleft palate 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 virus-positive T-cell lymphoproliferative disease of childhood Systemic karyomegaly Systemic mastocytosis with an associated clonal hematologic nonmast cell lineage disease Systemic monochloroacetate poisoning Systemic PAN Systemic periarteritis nodosa Systemic polyarteritis nodosa Systemic polyarthritis Systemic primary carnitine deficiency Systemic scleroderma Systemic sclerosis



148

ORPHA number 220407 85414 85414 134 99861 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 66529 66529 66529

Disease name


Disease name

Systemic sclerosis sine scleroderma Takotsubo syndrome Systemic-onset JIA TALDO Systemic-onset juvenile idiopathic Talipes equinovarus-atrial septal arthritis defect-Robin sequence-persistence 2886 of the left superior vena cava T2 deficiency syndrome T-ALL Tall forehead-sparse hair-skin T-B+ SCID due to 217335 hyperextensibility-scoliosis CD3delta/CD3epsilon/CD3zeta syndrome T-B+ SCID due to CD45 deficiency Tall stature-intellectual disabilityT-B+ SCID due to gamma chain 404443 facial dysmorphism syndrome deficiency Tall stature-scoliosis-macrodactyly T-B+ SCID due to IL-7Ralpha 329191 of the great toes syndrome deficiency Tall stature-scoliosis-macrodactyly T-B+ SCID due to JAK3 deficiency 329191 of the halluces syndrome T-B+ severe combined 50809 Talo-patello-scaphoid osteolysis immunodeficiency due to 31150 Tangier disease CD3delta/CD3epsilon/CD3zeta 180 Tapetochoroidal dystrophy T-B+ severe combined 98839 Tappeiner-Pfleger disease immunodeficiency due to CD45 3320 TAR syndrome deficiency 65250 T-B+ severe combined Tarlov cyst immunodeficiency due to gamma 2886 TARP syndrome chain deficiency 99170 Tarsal kink syndrome T-B+ severe combined 1412 Tarsal-carpal coalition syndrome immunodeficiency due to IL-7Ralpha 371 Tarui disease deficiency 163654 Tattoo dysplasia T-B+ severe combined Taurodontia-absent teeth-sparse 2731 immunodeficiency due to JAK3 hair syndrome deficiency 3289 Taurodontism T-B+ severe combined 99045 Taussig-Bing syndrome immunodeficiency, X-linked →33364 Tay syndrome T-cell chronic lymphocytic leukemia 845 Tay-Sachs disease T-cell immunodeficiency due to 309239 Tay-Sachs disease, B1 variant RHOH deficiency Tay-Sachs disease, B variant, adult T-cell immunodeficiency with 309192 form epidermodysplasia verruciformis Tay-Sachs disease, B variant, T-cell large granular lymphocyte 309178 infantile form leukemia Tay-Sachs disease, B variant, T-cell LGL leukemia 309185 juvenile form T-cell lymphoma, AILD type 669 Taybi syndrome T-cell prolymphocytic leukemia 90650 Taybi syndrome T-cell/histiocyte rich large B cell 2636 Taybi-Linder syndrome lymphoma 98960 TBCD T-LGL 857 TBS T-PLL 2967 TCI deficiency Tabatznik syndrome 103918 TCP TAC 397959 TCR-alpha-beta+ T-cell deficiency TACH syndrome TCR-alpha-beta-positive T-cell TAFRO syndrome 397959 deficiency Takao syndrome 2655 TD Takatsuki syndrome 1860 TD1 Takayasu arteritis 93274 TD2 Tako-Tsubo cardiomyopathy 3352 TDO syndrome Tako-Tsubo syndrome 1519 Teebi hypertelorism syndrome Takotsubo cardiomyopathy 1519 Teebi syndrome


Disease name

Teebi-Al Saleh-Hassoon syndrome Teebi-Kaurah syndrome 1974 Teebi-Naguib-Alawadi syndrome 3291 Teebi-Shaltout syndrome Tel Hashomer camptodactyly 3292 syndrome Telangiectasia macularis eruptiva 90389 perstans Telangiectasia-erythrocytosismonoclonal gammopathy284227 perinephric-fluid collectionsintrapulmonary shunting syndrome Telecanthus-hypertelorism3293 strabismus-pes cavus syndrome 2885 Telfer-Sugar-Jaeger syndrome 1596 Telomeric 15q deletion syndrome 36367 Telomeric deletion 1q 280 Telomeric deletion 4p 96145 Telomeric deletion 4q 1627 Telomeric deletion 5q 96126 Telomeric deletion 7p 1636 Telomeric deletion 7q36 1642 Telomeric deletion 9p 1580 Telomeric deletion 10p 96148 Telomeric deletion 10q 2308 Telomeric deletion 11q 96149 Telomeric deletion 12q 96150 Telomeric deletion 14q 531 Telomeric deletion 17p 1597 Telomeric deletion 17q 96129 Telomeric deletion 19p 96152 Telomeric deletion 20q 1590 Telomeric deletion13q 96069 Telomeric duplication 1p36 96070 Telomeric duplication 2p 96094 Telomeric duplication 2q 96071 Telomeric duplication 3p 96072 Telomeric duplication 4p 96096 Telomeric duplication 4q 96097 Telomeric duplication 5q 1745 Telomeric duplication 6p 96098 Telomeric duplication 6q 96074 Telomeric duplication 7p 96100 Telomeric duplication 8q 96101 Telomeric duplication 9q 96102 Telomeric duplication 10q 96103 Telomeric duplication 11q 96105 Telomeric duplication 13q 1705 Telomeric duplication 14q 1707 Telomeric duplication 15q 96078 Telomeric duplication 16p 96106 Telomeric duplication 16q 3379 Telomeric duplication 17q 1716 Telomeric duplication 18q



149

ORPHA number 1717 96107 96109 1762 1620 75565 352737 284227 420561 397 363417 1777 1777 66627 137834 252018 141107 363483 88630 93937 141242 141258 141261 141265 325124 363494 363494 983 842 842 363489 363483 3000 3299 9 294971 3301 199310 293284

293284 3303 2564 3305

Disease name

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 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 Tetra X Tetra-amelia Tetraamelia-multiple malformations syndrome Tetragametic chimerism Tetrahydrobiopterin-responsive HPA/PKU Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketo nuria Tetralogy of Fallot Tetramelic monodactyly Tetraploidy

ORPHA number 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 436169 436169 99917

99917

88633 88633 268184

268184

199348 268184 49827

Disease name

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 dwarfism-cloverleaf skull syndrome Thanatophoric dysplasia Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thanatophoric dysplasia, Glasgow variant 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 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

ORPHA number 49827 268184 2405 98960 3314 3235 1506 166424 →300 141030 141030 141030 363444 3316 2547 2031 614 2866 1861 97330 97330 1759 1335 3317 268384 268752 1803 →2199 300857 36258 3204 67044 3320

457077

3323 3002

Disease name

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 Thoracolumbosacral spina bifida aperta Thoracolumbosacral spina bifida cystica Thoracomelic dysplasia Thost-Unna palmoplantar keratoderma THRLBCL Thromboangiitis obliterans Thrombocytopathy-asplenia-miosis syndrome Thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia-absent radius syndrome Thrombocytopenia-anasarca-feverrenal insufficiency-organomegaly syndrome Thrombocytopenia-Robin sequence syndrome Thrombocytopenic purpura, autoimmune



150

ORPHA number 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 91347 2091 79102 79102 91347 2768 3329 93322 3329 295079 295077 3329 93322 295079

Disease name

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 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 longitudinal meromelia Tibial longitudinal meromelia, bilateral

ORPHA number 295077 609 295028 295028 294981 295099 295097 297 42665 1662 65283 91500 352540 480483 420561 →1394 420611 609 314667 466703 1194 99886 32960 64686 1920 640 →314632 454718 1547 2228 3460 1827 3338 79347 3339 51084 3341 75326 97330 2701 294971 49382 98994 180126 268377

Disease name

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 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 Tomé-Brunet-Fardeau syndrome 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

ORPHA number 268748 2796 857 857 95455 95455 279894 227972 293173 230800 230800 3343 858 858 93164 444463

444463

2950 412022 3346 2042 3347 3348 3348 3052 101028 859 2967 859 2967 199247 495 495 87503 420611 98871 79411 98871 2312 289877

Disease name

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 Tracheo-esophageal fistulahypospadias syndrome Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheopathia osteoplastica Tranebjaerg-Svejgaard syndrome Transaldolase deficiency Transcobalamin deficiency Transcobalamin I deficiency Transcobalamin II deficiency Transcobalamin-1 deficiency Transcortin deficiency 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



151


300293

66529 420611 420611 391504 391504

280615

99886 329942 329942 329942 329942 329942 391504 93164 3402 3402 213746 280224 319308 85451 85447 85447 85451 →221061 180160 32960 399175 399175 861 →1215

Disease name

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 Transient pseudohypoaldosteronism Transient tyrosinemia of the neonate Transient tyrosinemia of the newborn Transitional cell carcinoma of the corpus uteri Transitional PMD Translocation renal cell carcinoma Transthyretin amyloid cardiopathy Transthyretin amyloid neuropathy Transthyretin amyloid polyneuropathy Transthyretin-related familial amyloid cardiomyopathy Transverse limb deficiencyhemangioma syndrome Transverse vaginal septum TRAPS syndrome Traumatic avascular necrosis Traumatic AVN Treacher-Collins syndrome Treft-Sanborn-Carey syndrome

ORPHA number 447896 3350 64694 1822 99832 2970 444463 85170 863 863 3352 84064 3354 1264 3351 3360 3353 228379 79129 3361 864 84064 3363 3355 3355 565 77258 502 →33364 33364 →33364 →33364 →33364 →33364 →33364 →33364 →33364

→33364

Disease name

Tremor-ataxia-central hypomyelination syndrome Tremor-nystagmus-duodenal ulcer syndrome Trench fever Trevor disease TRH resistance syndrome Triad syndrome TRIANGLE disease Triangular tibia-fibular aplasia syndrome Trichinellosis Trichinosis Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Tricho-oculo-dermo-vertebral syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermal syndrome-intellectual disability syndrome Trichodermodysplasia-dental alterations syndrome Trichodysplasia spinulosa Trichodysplasia-amelogenesis imperfecta syndrome Trichodysplasia-xeroderma syndrome Trichofolliculoma Trichohepatoenteric syndrome 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

ORPHA number →33364 →33364 1209 95457 95458 221091 98908 1308 3368 3365 3369 401764 3374 868 485405 444463 2950 2947 3133 869 415 3375 3375 3376 3377 96069 261344 250994 96070 313947 294026 96094 96071 96095 251038 1738 96072 96096 1742 329802 228415 96097 1745

Disease name

Trichothiodystrophy-osteosclerosis 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 Triose phosphate-isomerase deficiency Trip(16)(p12.1p12.3) Tripeptidyl-peptidase II deficiency Triphalangeal thumb-polysyndactyly 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 1pter Trisomy 1q Trisomy 1q21.1 Trisomy 2pter Trisomy 2q23.1 Trisomy 2q31.1 Trisomy 2qter Trisomy 3pter Trisomy 3q26 Trisomy 3q29 Trisomy 4p Trisomy 4pter Trisomy 4qter Trisomy 5p Trisomy 5p13 Trisomy 5q35 Trisomy 5qter Trisomy 6pter



152

ORPHA number 96098 314034 96074 96121 264450 251076 1752 228399 96100 236 96101 171929 276422 96102 300305 96103 1699 3378 96105 261229 1705 238446 238446 1707 261204 261243 96078 96106 261290 1713 477817 477817 217385 139474 261272 217340 3379 3380 1715 1716 1717 261318 96107 870 1727 96109 1738 1742 236 1715

Disease name

Trisomy 6qter Trisomy 7p22.1 Trisomy 7pter Trisomy 7q11.23 Trisomy 8p Trisomy 8p23.1 Trisomy 8q Trisomy 8q12 Trisomy 8qter Trisomy 9p Trisomy 9qter Trisomy 10p Trisomy 10q22.3q23.3 Trisomy 10qter Trisomy 11p15.4 Trisomy 11qter Trisomy 12p Trisomy 13 Trisomy 13qter Trisomy 14q11.2 Trisomy 14qter Trisomy 15q11-q13 Trisomy 15q11q13 Trisomy 15qter Trisomy 16p11.2p12.2 Trisomy 16p13.11 Trisomy 16pter Trisomy 16qter 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 20p Trisomy 20qter Trisomy 21 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

ORPHA number 3375 217377 261483 261483 1762 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 3389 805 805 88924 2593 100048 73224 467166 319325

Disease name

Trisomy X Trisomy Xp11.22-p11.23 Trisomy Xq27.3-q28 Trisomy Xq27.3q28 Trisomy Xq28 Tritan colour blindness Tritanopia TRMA tRNA-LYS-related cardiomyopathyhearing 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 Tuberculosis 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 Tubulinopathy-associated dysgyria Tubulocystic renal cell carcinoma

ORPHA number 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

69723 69723

Disease name

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 Tyrosinemia due to 4hydroxyphenylpyruvic acid oxidase deficiency Tyrosinemia due to HPD deficiency



153

ORPHA number 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 35120 3138 104078

Disease name

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 ulceration-intestinal atresia syndrome UMOD-associated familial juvenile hyperuricemic nephropathy UMOD-associated FJHN UMPH1 deficiency UMS Unclassified intestinal pseudoobstruction

ORPHA number 98825

98827

98825 251328 1410 1264 103920 442835 442835 418951 424970 424970

424080

423786 213721 90002 178315 418951 423786 86830 2023 178315 251332 83468 180079 180074 93176 268947 101071 97363 99802

Disease name

Unclassified mixed myelodysplastic/myeloproliferatic syndrome Unclassified myelodysplastic syndrome Unclassified myelodysplastic/myeloproliferative 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 Unicornuate uterus with rudimentary horn Unicornuate uterus without rudimentary horn Unilateral congenital megacalycosis Unilateral focal polymicrogyria Unilateral hemispheric polymicrogyria Unilateral MCDK Unilateral megalencephaly

ORPHA number 97363 97363 268943 295148 295012 1464 99069 79146 620 84096 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 261524 3408 2489 295049 2497 268740 268770 2023 481665

Disease name

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 Unknown leukodystrophy 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 UPD(X)pat Upington disease 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 UPS18 deficiency



154

ORPHA number 93583 488 431347 431344 530 221145 3409 1839 94059 105 35120 79238 30 210128 2704 83628 98606 79457 886 231169 231178 231183 886 231169 231178 231183 2032 213610 180145 180139 439167 180118 180118 180129 178338 1473 39044 3437 99771 370109 887 3412 887 25980 2478

Disease name

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 Urorectal septum malformation sequence Urrets-Zavalia syndrome Urticaria pigmentosa USH USH1 USH2 USH3 Usher syndrome Usher syndrome type 1 Usher syndrome type 2 Usher syndrome type 3 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 palateintellectual disability Uveal melanoma Uveomenigitic syndrome Uvular cleft v-AT VACTERL association VACTERL with hydrocephalus VACTERL/VATER association Vacuolar myopathy Vacuolating megalencephalic leukoencephalopathy with subcortical cysts

ORPHA number 65681 180247 206489 206489 180247 158048 88639 228123 99054 1548 2806 2806 3416 1122 3417 2460 216796 2478 888 314679 3419 73 983 983 729 2754 2754 454742 314652 79253 79253 79473 404553 353356 353356 →261483 85128 887 52047 228379 898 289157 93160 289157 2460 93160 1053

Disease name

Vaginal atresia Vaginal carcinoma Vaginal germ cell cancer Vaginal germ cell malignant tumor Vaginal malignant epithelial tumor VAHS Valine metabolic defect Valley fever Valvular pulmonary stenosis Van Benthem-Driessen-Hanveld syndrome Van Bogaert disease Van Bogaert encephalitis Van Buchem disease Van den Berghe-Dequecker syndrome Van den Bosch syndrome Van den Ende-Gupta syndrome Van der Hoeve syndrome Van der Knaap syndrome Van der Woude syndrome Van Maldergem syndrome Van Regemorter-Pierquin-Vamos syndrome Vanishing bone disease Vanishing testes syndrome Vanishing testis syndrome Vaquez disease Váradi syndrome Váradi-Papp syndrome Variably protease-sensitive prionopathy Variant ABeta2M amyloidosis Variant phenylketonuria Variant PKU Variegate porphyria Vasculitis due to ADA2 deficiency Vasoproliferative tumor of ocular fundus Vasoproliferative tumor of retina Vasquez-Hurst-Sotos syndrome Västerbotten dystrophy VATER association 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

ORPHA number 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 252175 892 1493 3433 3434 97282 97282 206991 180176 99916 158048

Disease name

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 Vestibular schwannoma VHL Vici syndrome Viljoen-Kallis-Voges syndrome Viljoen-Smart syndrome VIP-secreting tumor VIPoma Viral myositis Virginal breast hypertrophy Virilizing ovarian tumor Virus-associated hemophagocytis syndrome



155

ORPHA number 228379 280068 1876

73246

353344 420556 3006 28 79310 79311

308442

28 79310 79311 308442 27 79312 289916 27 79312 289916 289157 289157 93160 93160 1914 1243 179 898 26793 26793 386 443988

Disease name

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 mutVitamin 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 antagonists embryofetopathy Vitelliform macular dystrophy type 2 Vitiliginous choroiditis Vitreoretinal degeneration, Wagner type VLCAD deficiency VLCADD VMC VMCKD

ORPHA number 2451 83454 79124 3437 494 79395 2427 35737 83600 364 98941 892 892 238557 386 636 363700 3439 903 166078 166081 166084 166087 166090 166093 166096 466934

466934 369852 353356 99094 357131 137583 137583 83453 206492 53696 888 2804 2180 1106 3440 894 895 352740 896

Disease name

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 anomaly 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 VPS11-related autosomal recessive hypomyelinating leukoencephalopathy VPS45 deficiency VPTR VSD with aortic insufficiency VTOS Vulvar intraepithelial neoplasia Vulvar intraepithelial tumor Vulvovaginal gingival syndrome Vulvovaginal rhabdomyosarcoma Vuopala disease 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

ORPHA number 897 894 895 896 896 897 98960 897 280558 466943 247709 898 898 893 90033 357332 90033 2379 33226 90362 1068 899 1453 2510 2510 3214 1052 96061 90033 1541 280558 51636 51636 69745 906 1046 100067 97282 →636 33577 284395 97282 99971 603

Disease name

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 WARBM Warburg micro syndrome Warburg-Thomsen syndrome Warburton-Anyane-Yeboa syndrome 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



156

ORPHA number 3447 →3447 3448 33577 33577 1521 900 228254 3449 3344 3450 284395 99971 213736 213736 213736 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

Disease name

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 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 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

ORPHA number 171723 171723 1489 2779 3454 116 2156 3455 319182 85446 85446 330001 330001 3456 739 904 904 411501 51636 654 220

893 905 3459 3460 169095 94087 2515 906 829 2228 101068 →280 3237 247768 1667 280 3080 3463 411590 75233 3464 2571 137658 170 79414

Disease name

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 Williams syndrome Williams-Beuren syndrome Williams-Campbell syndrome WILM Wilms tumor Wilms tumor and pseudohermaphroditism Wilms tumor-aniridia-genitourinary anomalies-intellectual 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 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


65282

420686

65282 170 79414 1409

65282

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

Disease name

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 Wooly hair-palmoplantar hyperkeratosis-dilated 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



157

ORPHA number 448372 43 47 43 88917 85278 181 85297 85292 139583 1131 481 481 481 391327 111

329235

329235 596 139396 163961 101075 101076 101077 101078 99014 352675 35173 324601

431140

Disease name

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 X-linked BSMA X-linked bulbospinal amyotrophy 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

ORPHA number 431140

1497 306617 90001 95702

67044

79495 565 1661 52503 85453 198 383 85321 139557 1018 1145 139557 139557 35173

163966

163966

443197 93951 443197 139557 363727

373 53351 75497

Disease name

X-linked colobomatous microphthalmia-microcephaly-short 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 X-linked corneal dermoid 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 dHMN type 3 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 dSMA type 3 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia X-linked dysplasia gigantism syndrome X-linked dystonia-parkinsonism X-linked Ehlers-Danlos syndrome


85294

443197

480880

480880 →994 139583 139583 2182 2182 2182

1397 101088 181 89936 89936 461 231692 317476

2571 16 364028 3242 67045 776 85273 85274 85276

Disease name

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 facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females X-linked female restricted facial dysmorphism-short stature-choanal 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



158

ORPHA number 1193 3056 85293 85277 163971 →93950 93947 →457240 93952 163961 →1762 85283 163937 163956 85322 93945 →776 3242 85285 3062 85323 85286 85324 85287 3063 85278 85325 85288

Disease name

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 X-linked intellectual disability, Fichera type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Kroes type X-linked intellectual disability, Lubs type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, Porteous type X-linked intellectual disability, Raymond type X-linked intellectual disability, Renpenning type X-linked intellectual disability, Schimke type X-linked intellectual disability, Schutz type X-linked intellectual disability, Seemanova type X-linked intellectual disability, Shashi type X-linked intellectual disability, Shrimpton type X-linked intellectual disability, Siderius type X-linked intellectual disability, Snyder type X-linked intellectual disability, South African type X-linked intellectual disability, Stevenson type X-linked intellectual disability, Stocco Dos Santos type

ORPHA number 85326 93950 85328 163976 →85293 85290 →280 →59 85327 85338

324410

137831

459070

85295

85330

85278

163979

85280

1568

2958

94083

85319

Disease name

X-linked intellectual disability, Stoll type X-linked intellectual disability, Sutherland-Haan type X-linked intellectual disability, Turner type X-linked intellectual disability, Van Esch type X-linked intellectual disability, Vitale type X-linked intellectual disability, Wilson type 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 dysmorphism-epilepsyophthalmoplegia-cerebellar 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

ORPHA number 85282

480907

3459

85317

3055

59

85329

457260

→1762

423479

85320

251383

163937

163971

→3057

163956 2898

85318

3077 85332

Disease name

X-linked intellectual disabilityepileptic seizures-hypogenitalismmicrocephaly-obesity syndrome X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome X-linked intellectual disabilitygynecomastia-obesity syndrome X-linked intellectual disabilityhypogammaglobulinemiaprogressive neurological deterioration syndrome 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 dystrophy-diabetes insipidus syndrome X-linked intellectual disabilitymacrocephaly-macroorchidism syndrome X-linked intellectual disabilitymicrocephaly-cortical malformationthin 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



159


→702

163982 231692 90625 90625 90625 90625 792 482606

79447 2148 452 452

452

2442 1131 1131 59306 319605

319623

319612

319612

435938

383

Disease name

X-linked intellectual disabilityseizures-psoriasis syndrome X-linked intellectual disability-short stature-overweight syndrome X-linked intellectual disabilityspastic paraplegia with iron deposits syndrome X-linked intellectual disabilityspastic quadriparesis syndrome X-linked isolated growth hormone deficiency 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-agenesis of the corpus callosum-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

ORPHA number 383 383 383 383 319605 319623 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

Disease name

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 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

ORPHA number 85453 1852 792 431272 431272 86788 75563 2802 2802 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

Disease name

X-linked reticulate pigmentary disorder X-linked retinal dysplasia X-linked retinoschisis X-linked scapuloperoneal muscular dystrophy X-linked scapuloperoneal syndrome X-linked severe congenital neutropenia X-linked sideroblastic anemia X-linked sideroblastic anemia and ataxia X-linked sideroblastic anemia with ataxia 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



160

ORPHA number 53351 293621 910 90342 →910 220295 75496 181 101088 412069 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 284180 1643 363654 90342 314389 1018 261483 261483 456328 243 2855 393

Disease name

XDP XECD Xeroderma pigmentosum Xeroderma pigmentosum variant Xeroderma pigmentosum with neurologic manifestation Xeroderma pigmentosum-Cockayne syndrome complex XGPT deficiency XHED XHIGM Xia-Gibbs 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 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 XX gonodal dysgenesis-deafness syndrome XX, male syndrome

ORPHA number 243 3375 168558 1770 2843 75496 370930 2616 99829 99829 662 79434 3214 707 99829 662 876 252006 252006 2828 2255 3240 314485 314485 3471 3055 2828 477817 3472 319213 98912 97240 217017 912 369942 50812 911 448237 448237 3301 3473 439196 1775 3253

Disease name

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 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 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 Zika virus infection Zimmer phocomelia Zimmermann-Laband syndrome Zinc-responsive necrolytic acral erythema Zinsser-Engman-Cole syndrome Zlotogora-Ogur syndrome

ORPHA number 3253 913 2835 912 3474 295187 295189 295191 295193 295193 295189 295191 295187 73263

Disease name

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



161

ANNEX

→ Use these ORPHA number

List of diseases to be used instead of deprecated entities → Use these ORPHA number ORPHA number

Disease to be used

Allan-Herndon-Dudley syndrome Bazex-Dupré-Christol 113 syndrome Bazex-Dupré-Christol 113 syndrome 59

ORPHA number

Disease to be used

85337

X-linked intellectual disability, Zorick type

528

79458

Oley syndrome

636

Bifunctional enzyme deficiency Bifunctional enzyme deficiency Berardinelli-Seip congenital lipodystrophy Berardinelli-Seip congenital lipodystrophy Neurofibromatosis type 1

Congenital hypotrichosismilia syndrome Colobomatousmicrophthalmia-heart disease-hearing loss syndrome Hittner-Hirsch-Kreh syndrome Non-polyposis Turcot syndrome Metaphyseal dysplasia without hypotrichosis Cartilage-hair hypoplasia-likeskeletal dysplasia without hypotrichosis syndrome Thanatophoric dysplasia, Glasgow variant Mirhosseini-Holmes-Walton syndrome Pigmentary retinopathyintellectual disability syndrome Partington-Anderson syndrome Radio-ulnar synostosis-retinal pigment abnormalities syndrome Buntinx-Lormans-Martin syndrome Primary ciliary dyskinesia, Kartagener type Dextrocardia-bronchiectasissinusitis syndrome Immotile cilia syndrome, Kartagener type Kartagener syndrome Siewert syndrome X-linked intellectual disability, Wittwer type Wittwer syndrome Pitt-Rogers-Danks syndrome Intellectual disabilitydysmorphism-intrauterine growth retardation syndrome Hereditary pyropoikilocytosis Common hereditary elliptocytosis Homozygous hereditary elliptocytosis

636

Neurofibromatosis type 1

636

Neurofibromatosis type 1

636 646

Neurofibromatosis type 1 Niemann-Pick disease type C

646

Niemann-Pick disease type C

672

Pallister-Hall syndrome

672

Pallister-Hall syndrome Hyperkalemic periodic paralysis Hyperkalemic periodic paralysis Hyperkalemic periodic paralysis Hyperkalemic periodic paralysis Hyperkalemic periodic paralysis

instead of the deprecated entities Deprecated ORPHA number

79458

138

CHARGE 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


98861

244


98861

244 244

Primary ciliary dyskinesia Primary ciliary dyskinesia

98861 98861

280

Wolf-Hirschhorn syndrome

85291

280 280

Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome

85291 98788

280

Wolf-Hirschhorn syndrome

98788

288

Hereditary elliptocytosis

98867

288


98864

288


98865

Deprecated entities

300 300 528

682 682 682 682 682 682

Hyperkalemic periodic paralysis

702

Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease X-linked intellectual 776 disability with marfanoid habitus 782 Axenfeld-Rieger syndrome 782 Axenfeld-Rieger syndrome 702

782

Axenfeld-Rieger syndrome

794 794

Saethre-Chotzen syndrome Saethre-Chotzen syndrome

794

Saethre-Chotzen syndrome

794 798 823 869

Saethre-Chotzen syndrome Schinzel-Giedion syndrome Isolated spina bifida Triple A syndrome Waardenburg-Shah 897 syndrome



Deprecated entities

2981

Pseudo-Zellweger syndrome

2981

Thiolase deficiency

1060

Systemic cystic angiomatosisSeip syndrome

1060

Brunzell syndrome

3444

Watson syndrome Pulmonic stenosis with 'café3444 au-lait' spots Multiple non-ossifying 2029 fibromatosis 2029 Jaffe-Campanacci syndrome 79289 Niemann-Pick disease type D Niemann-Pick disease, Nova 79289 Scotia type Congenital hypothalamic 2113 hamartoma syndrome 2113 CHHS Normokalemic periodic 680 paralysis 680

NormoKPP

680

NormoPP

680

Normokalemic PP

680

Periodic paralysis type 3

Potassium-sensitive normokalemic periodic paralysis X-linked intellectual 85333 disability-spastic paraplegia with iron deposits syndrome 680

85333

Arena syndrome

163953

X-linked intellectual disability, Raymond type

1831 1831

De Hauwere syndrome De Hauwere-Chitty syndrome Iris dysplasia-hypertelorism1831 deafness syndrome 1219 Aurocephalosyndactyly 1219 Auralcephalosyndactyly Kurczynski-Casperson 1219 syndrome 3106 Robinow-Sorauf syndrome 3118 Rudiger syndrome 93968 Meningocele 99777 Achalasia-alacrimia syndrome 918

ABCD syndrome

162

→ Use these ORPHA number ORPHA number

Disease to be used


2853 2569

910

Xeroderma pigmentosum

1569

910

Xeroderma pigmentosum

1569

1071

1071

1071

1071

1071

1071

1071

1071

1071

1071

1159

1159

3349

1215

Autosomal dominant optic atrophy plus syndrome

3212

Exner syndrome

1215


3212

Moore-Federman syndrome Dwarfism-stiff joint-ocular abnormalities syndrome X-linked fetal akinesia syndrome

1234 Bartsocas-Papas syndrome

79446

1263 Boomerang dysplasia

156723

1263 Boomerang dysplasia

156723

995

Holmes-Benacerraf syndrome

1299

1401

CHAND syndrome

1359 Carney complex

623

1359 Carney complex

623

1401

Baughman syndrome

1401

CHANDS

1401

Curly hair-ankyloblepharonnail dysplasia syndrome

2569

994

77302

3349

969 994

Deprecated ORPHA number


1271

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 Ankyloblepharonectodermal defects-cleft lip/palate syndrome Ankyloblepharonectodermal defects-cleft lip/palate syndrome Ankyloblepharonectodermal defects-cleft lip/palate syndrome Progressive pseudorheumatoid arthropathy of childhood Progressive pseudorheumatoid arthropathy of childhood

instead of the deprecated entities

1215

Zellweger syndrome Acroosteolysis dominant 955 type Acroosteolysis dominant 955 type 969 Acromicric dysplasia Acromicric dysplasia

Disease to be used

Choanal atresia-hearing loss-cardiac defects1200 craniofacial dysmorphism syndrome Autosomal dominant optic 1215 atrophy plus syndrome

918

912

ORPHA number

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 fibula-polycystic kidneys syndrome

Waardenburg-Shah syndrome

897

Deprecated entities


2853

995

3022

Rapp-Hodgkin syndrome

3022

Anhidrotic ectodermic dysplasia-cleft lip/palate syndrome

3022

Ectodermal dysplasia syndrome, Rapp-Hodgkin type

3022

Ectodermal dysplasia, RappHodgkin type

3022

RHS

1394

Cerebrofaciothoracic dysplasia 1466 COFS syndrome 1466 COFS syndrome

Syndesmodysplasic dwarfism

2654

Laplane-Fontaine-Lagardere syndrome

157788

228407

1317 1317 1317

1466 COFS syndrome

1317

1487 Cooks syndrome

2355

1487 Cooks syndrome

2355

1509 Coxopodopatellar syndrome

3112

1658

1762 1762

Xp22.3 microdeletion syndrome Absence of fingerprintscongenital milia syndrome Absence of fingerprintscongenital milia syndrome Trisomy Xq28 Trisomy Xq28

1762 Trisomy Xq28 1762 Trisomy Xq28


Oculo-oto-facial dysplasia Treft-Sanborn-Carey syndrome Optic atrophyophthalmoplegia-ptosisdeafness-myopathy syndrome Autosomal dominant optic atrophy and congenital deafness Konigsmark-Knox-Hussels syndrome Multiple pterygium syndrome, Aslan type Piepkorn dysplasia Short ribs-craniosynostosispolysyndactyly syndrome Hypospadias-hypertelorismcoloboma and deafness syndrome NAME syndrome Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome Craniofacial dysmorphismskeletal anomaliesintellectual disability syndrome

228407 TMCO1 defect syndrome

1466 COFS syndrome

1658 2654

Cerebrofaciothoracic dysplasia

1394

1643 Alveolar synechia99694 ankyloblepharon-ectodermal dysplasia syndrome

Branchioskeletogenital syndrome

Deprecated entities

431 1235 1235

CAMFAK syndrome CAMAK syndrome Cataract-microcephalyarthrogryposis-kyphosis syndrome Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome Kumar-Levick syndrome Nail dysplasia-camptodactylybrachydactyly type B syndrome Patella aplasia-coxa varatarsal synostosis syndrome Ichthyosis-male hypogonadism syndrome Ectodermal dysplasia-absent dermatoglyphs syndrome Basan syndrome

85281 85281

MECP2 duplication syndrome Lubs-Arena syndrome X-linked intellectual 85281 disability, Lubs type X-linked intellectual 85281 disability-hypotonia-recurrent Infections syndrome

163


Disease to be used


1768 Familial caudal dysgenesis

1850

1768 Familial caudal dysgenesis

1850

1855 Spondyloenchondrodysplasia

50816

1855 Spondyloenchondrodysplasia 1855 Spondyloenchondrodysplasia

50816 50816

1855 Spondyloenchondrodysplasia

50816

1896 EEC syndrome

1888

1896 EEC syndrome

1888

1896 EEC syndrome

1889

1896 EEC syndrome 1896 EEC syndrome

1889 2389

1896 EEC syndrome

2389

Ehlers-Danlos syndrome, 1900 kyphoscoliotic type Ehlers-Danlos syndrome, 1900 kyphoscoliotic type 2036 Scalp-ear-nipple syndrome 2036 Scalp-ear-nipple syndrome 2036 Scalp-ear-nipple syndrome 2052 Fraser syndrome Epidermolytic palmoplantar 2199 keratoderma Epidermolytic palmoplantar 2199 keratoderma Epidermolytic palmoplantar 2199 keratoderma 2353 Schilbach-Rott syndrome 2353 Schilbach-Rott syndrome

2470 Matthew-Wood syndrome

2510 Micro syndrome 2510 Micro syndrome 2526

Microcephaly-lymphedemachorioretinopathy syndrome

2609

Isolated complex I deficiency

2616 3M syndrome

2691

Deprecated entities

Renal dysplasia-megalocystissirenomelia syndrome Selig-Benacerraf-Greene syndrome Spondylometaphyseal dysplasia with combined immunodeficiency Roifman-Melamed syndrome SPENCDI Spondyloenchondrodysplasia 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/palate-ectrodactyly syndrome Nevo syndrome

Cerebral gigantism, Nevo type Odonto-onycho-hypohidrotic 3391 dysplasia-midline scalp defects syndrome Ectodermal dysplasia-adrenal 3391 cyst syndrome 3391 Tuffli-Laxova syndrome 2051 Fraser-like syndrome Thost-Unna palmoplantar 496 keratoderma Non-epidermolytic 496 palmoplantar keratoderma Palmoplantar keratoderma 89833 with tonotubular keratin Blepharofacioskeletal 1251 syndrome Richieri Costa-Guion Almeida1251 Rodini syndrome Anophthalmia-heart and pulmonary anomalies91129 intellectual disability syndrome Pinsky-Di George-Harley 2895 syndrome Microphthalmia-intellectual 2895 disability syndrome Autosomal dominant 1432 chorioretinopathymicrocephaly syndrome 2691

936 2661


Microcephalic 2637 osteodysplastic primordial dwarfism type II 2686 Cyclic neutropenia Arthrogryposis-renal 2697 dysfunction-cholestasis syndrome Arthrogryposis-renal 2697 dysfunction-cholestasis syndrome Arthrogryposis-renal 2697 dysfunction-cholestasis syndrome Arthrogryposis-renal 2697 dysfunction-cholestasis syndrome Arthrogryposis-renal 2697 dysfunction-cholestasis syndrome Oculofaciocardiodental 2712 syndrome Oculofaciocardiodental 2712 syndrome Orofaciodigital syndrome 2750 type 1 Orofaciodigital syndrome 2750 type 1 Orofaciodigital syndrome 2750 type 1 Orofaciodigital syndrome 2750 type 1 2796 Pachydermoperiostosis 2882 Sitosterolemia 2909 2909 2995

2995

2995

2995

2995

Succinic acidemia Dwarfism-tall vertebrae syndrome

Disease to be used

3057

Rothmund-Thomson syndrome Rothmund-Thomson syndrome Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter cerebrofrontofacial syndrome Monoamine oxidase A deficiency



Deprecated entities

Primordial short stature46658 microdontia-opalescent and rootless teeth syndrome 2689 Intermittent neutropenia 1981

Fanconi syndrome-ichthyosisdysmorphism syndrome

1981

Deal-Barrat-Dillon syndrome

3438

Biliary tract malformationrenal failure syndrome

3438

Cholestatic jaundice-renal tubular insufficiency syndrome

3438

Lutz-Richner-Landolt syndrome

3013

Radiculomegaly of canine teethcongenital cataract

3013

Marashi-Gorlin syndrome

90649

Orofaciodigital syndrome type 7

90649

OFD7

Oral-facial-digital syndrome 90649 type 7 90649

Whelan syndrome

Acromegaly-cutis verticis gyrata-corneal leukoma syndrome Mediterranean 101022 macrothrombocytopenia Connective tissue dysplasia, 3333 Spellacy type Spellacy-Gibbs-Watts 3333 syndrome Short stature-intellectual 2649 disability-eye anomalies-cleft lip/palate syndrome 964

2649

Richieri Costa-Guion Almeida syndrome

Pachygyria-epilepsy94084 intellectual disabilitydysmorphism syndrome 94084

Cerebro-oculo-faciallymphatic syndrome

94084

Fryns-Aftimos syndrome

3065

X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome

164


3157

Disease to be used

Septo-optic dysplasia spectrum

Septo-optic dysplasia spectrum Septo-optic dysplasia 3157 spectrum Septo-optic dysplasia 3157 spectrum Septo-optic dysplasia 3157 spectrum 3157

3157

3157 3157 3157 3157 3157

3157

Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum Septo-optic dysplasia spectrum

Septo-optic dysplasia spectrum Dehydrated hereditary 3202 stomatocytosis 3157


33364 Trichothiodystrophy

453


2739

1102

Monosomy 14q22

1678

Dincsoy-Salih-Patel syndrome

33364 Trichothiodystrophy 33364 Trichothiodystrophy 33364 Trichothiodystrophy

2739 2739 2739


3123


3123


3123


231256


75790


75790


75790


75790


75789


75789

1102 1102

1678

2245 2245 2243 2244 2244

370006

93943 100039

3446

3460 Torg-Winchester syndrome

2775

3460 Torg-Winchester syndrome

2775

33001 33001 33364 33364 33364 33364 33364

Lymphedema-distichiasis syndrome Lymphedema-distichiasis syndrome Trichothiodystrophy Trichothiodystrophy Trichothiodystrophy Trichothiodystrophy Trichothiodystrophy


Deprecated ORPHA number

453 453 453

3447 Weaver syndrome

3471 Young syndrome

Disease to be used

33364 Trichothiodystrophy 33364 Trichothiodystrophy 33364 Trichothiodystrophy

90338

Woodhouse-Sakati syndrome Woodhouse-Sakati 3464 syndrome

ORPHA number

instead of the deprecated entities

Anophthalmia-hypothalamopituitary insufficiency syndrome 14q22 microdeletion syndrome Al Frayh-Facharzt-Haque syndrome

1102

3253 Zlotogora-Ogur syndrome

3464

Deprecated entities


1011 1011 1301 1683 2419 1245 1245 1245 670 670 670

Facial dysmorphismambiguous genitaliahypopituitarism-short limbs syndrome Hypopituitarism-postaxial polydactyly syndrome Culler-Jones syndrome Hypopituitarism-micropeniscleft lip/palate syndrome Hypopituitarismmicrophthalmia syndrome Kaplowitz-Bodurtha syndrome Hypothalamic insufficiencysecondary microcephalyvisual impairment-urinary anomalies syndrome Corpus callosum dysgenesishypopituitarism syndrome Familial pseudohyperkalemia type 1 Margarita island ectodermal dysplasia Weaver-like syndrome Autosomal recessive carpotarsal osteolysis Hereditary multicentric osteolysis Alopecia-hypogonadismextrapyramidal syndrome Devriendt-Legius-Fryns syndrome Bronchiectasis-oligospermia syndrome Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome Lymphedema-ptosis syndrome BIDS syndrome Amish brittle hair syndrome Trichothiodystrophy type D PIBIDS syndrome Trichothiodystrophy type F Trichothiodystrophy-sun sensitivity syndrome

35069 36899 36899 36899 42738

Infantile neuroaxonal dystrophy Myoclonus-dystonia syndrome Myoclonus-dystonia syndrome Myoclonus-dystonia syndrome Severe congenital neutropenia

2174

210566 DYT15 210566 Myoclonus-dystonia type 15 37629 1564

42775 PHACE syndrome

3195

Mohr-Tranebjaerg syndrome

Mohr-Tranebjaerg syndrome Inclusion body myopathy with Paget disease of bone 52430 and frontotemporal dementia 52368

56304 Atelosteogenesis type II 56304 Atelosteogenesis type II 60030 Loeys-Dietz syndrome 60030 Loeys-Dietz syndrome


IBIDS syndrome Tay syndrome Trichothiodystrophy type E Trichothiodystrophy with congenital ichthyosis Onycho-tricho-dysplasianeutropenia syndrome Itin syndrome ONMR syndrome Trichothiodystrophy type G Brittle hair syndrome, Sabinas type Brittle hair-mental deficiency syndrome Trichothiodystrophy type B Beta-thalassemiatrichothiodystrophy syndrome Pollitt syndrome Trichorrhexis nodosa syndrome Trichothiodystrophy type C Trichothiodystrophyneurocutaneous syndrome syndrome SIBIDS syndrome Trichothiodystrophyosteosclerosis syndrome Hunter-Carpenter-McDonald syndrome

210566 Myoclonic dystonia 15

42775 PHACE syndrome

52368

Deprecated entities

3213

Neonatal neutropenia Dandy-Walker malformationfacial hemangioma syndrome Sternal malformationvascular dysplasia syndrome Deafness-opticoacoustic nerve atrophy-dementia syndrome

3213

Jensen syndrome

54238

Myotonic dystrophy type 3

Lethal short-limb dwarfism, McAlister-Crane type 2640 McAlister-Crane syndrome 97295 Furlong syndrome Marfanoid habitus97295 craniosynostosis syndrome 2640

165


69061

Disease to be used

Idiopathic steroid-sensitive nephrotic syndrome

Hypotrichosis-lymphedema69735 telangiectasia-renal defect syndrome Peroxisome biogenesis 79189 disorder Peroxisome biogenesis 79189 disorder Glycogen storage disease due to glucose-679259 phosphatase deficiency type Ib Glycogen storage disease due to glucose-679259 phosphatase deficiency type Ib Glycogen storage disease due to glucose-679259 phosphatase deficiency type Ib Glycogen storage disease due to glucose-679259 phosphatase deficiency type Ib 79452 Milroy disease 79452 Milroy disease 79500 DOORS syndrome 79500 DOORS syndrome 79500 DOORS syndrome 79502

Punctate palmoplantar keratoderma type 2

83628 PELVIS syndrome Craniosynostosis-anal 85199 anomalies-porokeratosis syndrome X-linked intellectual 85293 disability, Cabezas type 86872

T-cell large granular lymphocyte leukemia


Steroid-sensitive nephrotic 97552 syndrome without renal biopsy 2087

Pipecolic acidemia

34

Hyperpipecolatemia

79261

79261

79260

79260

Glycogen storage disease type 1D

Type 1D glycogenosis

Glycogen storage disease type 1C

Type 1C glycogenosis

Non-hereditary congenital primary lymphedema 79450 Milroy-like disease 1674 Digitorenocerebral syndrome 1674 DRC syndrome Eronen-Somer-Gustafsson 1674 syndrome Palmoplantar porokeratosis 736 of Mantoux Sacral hemangiomas-multiple 2125 congenital abnormalities syndrome

79450

2060 85289

2687

90185

90186 Meige disease 90340 Blau syndrome Familial thoracic aortic 91387 aneurysm and aortic dissection Spondyloepiphyseal 93284 dysplasia tarda

90185 90341

Spondyloepiphyseal dysplasia tarda

Glomerulonephritis-sparse hair-telangiectasis syndrome

34

90186 Meige disease

93284

Deprecated entities

88636 163673 163673

Fukuda-Miyanomae-Nakata syndrome X-linked intellectual disability, Vitale type Neutropeniahyperlymphocytosis with large granular lymphocytes syndrome Non-hereditary late-onset primary lymphedema Meige-like disease Early-onset sarcoidosis Aortic dilatation-joint hypermobility-arterial tortuosity syndrome Spondyloepiphyseal dysplasia, Byers type Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome


Disease to be used

X-linked intellectual 93950 disability, Sutherland-Haan type Congenital adrenal hyperplasia due to 95699 cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to 95699 cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to 95699 cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to 95699 cytochrome P450 oxidoreductase deficiency Riboflavin transporter 97229 deficiency Riboflavin transporter 97229 deficiency Riboflavin transporter 97229 deficiency Spinocerebellar ataxia type 98769 15/16 Spinocerebellar ataxia type 98769 15/16 Spinocerebellar ataxia type 98772 19/22 Spinocerebellar ataxia type 98772 19/22 Autosomal dominant 98784 nocturnal frontal lobe epilepsy Autosomal dominant 98784 nocturnal frontal lobe epilepsy Autosomal dominant 98784 nocturnal frontal lobe epilepsy Autosomal dominant 98784 nocturnal frontal lobe epilepsy Autosomal dominant 98784 nocturnal frontal lobe epilepsy Autosomal dominant dopa98808 responsive dystonia Autosomal dominant dopa98808 responsive dystonia 98967 Schnyder corneal dystrophy 168569 H syndrome 168569 H syndrome



93944

Deprecated entities

X-linked intellectual disability, Fichera type

Antley-Bixler syndrome with 63269 genital anomaly and disorder of steroidogenesis Ambiguous genitalia63269 disordered steroidogenesis Antley-Bixler-like syndrome

63269

Antley-Bixler syndrome type 2

63269

Antley-Bixler syndrome, PORrelated

56965

Progressive bulbar paralysis of childhood

56965

Fazio-Londe disease

Progressive bulbar palsy of childhood Spinocerebellar ataxia type 98770 16 56965

98770

SCA16

101107

Spinocerebellar ataxia type 22

101107 SCA22 98812

Paroxysmal hypnogenic dyskinesia

98812

Nocturnal paroxysmal dystonia

98812

Paroxysmal hypnagogic dyskinesia

98812

Paroxysmal hypnagogic dystonia

98812

Paroxysmal nocturnal dyskinesia

101151 Dystonia 14 101151 DYT14 Central discoid corneal dystrophy Pigmented hypertrichosis 254723 with insulin-dependent diabetes mellitus syndrome 254723 PHID 98968

166


Disease to be used

168569 H syndrome 168569 H syndrome 168569 H syndrome 168569 H syndrome 168569 H syndrome 182050 MYH9-related disease 182050 182050 182050 182050

MYH9-related disease MYH9-related disease MYH9-related disease MYH9-related disease

182050 MYH9-related disease 182050 MYH9-related disease 182050 MYH9-related disease 182050 MYH9-related disease 182050 MYH9-related disease


Deprecated entities

Familial sinus histiocytosis 254712 with massive lymphadenopathy Familial Rosaï-Dorfman 254712 disease 254712 Familial SHML 254707 Faisalabad histiocytosis 254707 FHC May-Hegglin 850 thrombocytopenia 850 MHA 850 May-Hegglin anomaly 850 May-Hegglin syndrome 1984 Fechtner syndrome Alport syndrome with 1984 leukocyte inclusions and macrothrombocytopenia 1019 Epstein syndrome Alport syndrome with 1019 macrothrombocytopenia 807 Sebastian syndrome Macrothrombocytopenia 807 with leukocyte inclusions

Classic pantothenate kinase216866 associated neurodegeneration

157855 HARP syndrome

Classic pantothenate kinase216866 associated neurodegeneration

157855

Familial cerebral cavernous 221061 malformation Generalized dominant 231568 dystrophic epidermolysis bullosa Generalized dominant 231568 dystrophic epidermolysis bullosa Generalized dominant 231568 dystrophic epidermolysis bullosa Generalized dominant 231568 dystrophic epidermolysis bullosa Retinal vasculopathy and 247691 cerebral leukoencephalopathy Retinal vasculopathy and 247691 cerebral leukoencephalopathy Retinal vasculopathy and 247691 cerebral leukoencephalopathy Retinal vasculopathy and 247691 cerebral leukoencephalopathy

Hypoprebetalipoproteinemiaacanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome Transverse limb deficiency2486 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


Disease to be used

Retinal vasculopathy and 247691 cerebral leukoencephalopathy Retinal vasculopathy and 247691 cerebral leukoencephalopathy Retinal vasculopathy and 247691 cerebral leukoencephalopathy Retinal vasculopathy and 247691 cerebral leukoencephalopathy 261483

Xq27.3q28 duplication syndrome

261483

Xq27.3q28 duplication syndrome

CHST3-related skeletal dysplasia CHST3-related skeletal 263463 dysplasia CHST3-related skeletal 263463 dysplasia 263463

264200

14q22q23 microdeletion syndrome


Deprecated entities

Hereditary endotheliopathy63261 retinopathy-nephropathystroke syndrome 71291

Hereditary vascular retinopathy

71291

HVR

Hereditary vascular retinopathy-Raynaud 71291 phenomenon-migraine syndrome Vasquez-Hurst-Sotos 3423 syndrome Hypogonadismgynecomastia-X-linked 3423 intellectual disability syndrome 1792

Humerospinal dysostosis

93280

Spondyloepiphyseal dysplasia, Omani type

93280

Humero-spinal dysostosis

2055

Growth deficiencybrachydactyly-dysmorphism syndrome

14q22q23 microdeletion syndrome 284963 Marfan syndrome type 1

2055

Frias syndrome

99715

284963 Marfan syndrome type 1

99715

MASS syndrome Mitral valve-aorta-skeletonskin syndrome

264200

Late-onset primary lymphedema Late-onset primary 289825 lymphedema 293843 3MC syndrome 293843 3MC syndrome 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 Mingarelli syndrome OSA syndrome Oculo-skeletal-abdominal syndrome Ptosis-strabismus-rectus abdominis diastasis syndrome

293843 3MC syndrome

2453

293843 3MC syndrome 293843 3MC syndrome

2506 2506

293843 3MC syndrome

2506


2998 2998

293843 3MC syndrome

2998

3421

CRV


2998 2998

3421

Grand-Kaine-Fulling syndrome

293843 3MC syndrome

2998

293843 3MC syndrome

2998

63261

HERNS syndrome

Hypoplastic pancreas293864 intestinal atresia-hypoplastic gallbalder syndrome


137862 Martínez-Frías syndrome

167


Disease to be used

Hypoplastic pancreas293864 intestinal atresia-hypoplastic gallbalder syndrome Familial dilated cardiomyopathy with 300751 conduction defect due to LMNA mutation Familial dilated cardiomyopathy with 300751 conduction defect due to LMNA mutation Parkinsonism due to 314632 ATP13A2 deficiency


Duodenal and extrahepatic biliary atresia-hypoplastic 137862 pancreas-intestinal malrotation syndrome Severe dilated 83618 cardiomyopathy due to lamin A/C mutation Severe dilated 83618 cardiomyopathy with or without myopathy 3336

319646 PGM1-CDG

711

319646 PGM1-CDG

711

319646 PGM1-CDG 319646 PGM1-CDG

711 711

319646 PGM1-CDG

711

319646 PGM1-CDG

711

319646 PGM1-CDG

711

319646 PGM1-CDG 319646 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

Autosomal recessive severe 331176 congenital neutropenia due to G6PC3 deficiency Autosomal recessive severe 331176 congenital neutropenia due to G6PC3 deficiency 357225 357225

Primary non-essential cutis verticis gyrata Primary non-essential cutis verticis gyrata

Primary non-essential cutis 357225 verticis gyrata

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-coloboma-kyphosis syndrome Al-Gazali-Dattani syndrome C3 deposition glomerulonephritis without proliferation

178503 Dursun syndrome Pulmonary arterial 178503 hypertension-leukopeniaatrial septal defect syndrome Cutis verticis gyrata1557 intellectual disability syndrome 1557

McDowall syndrome

Cutis verticis gyrata-retinitis 217315 pigmentosa-sensorineural deafness syndrome


Disease to be used

357225

Primary non-essential cutis verticis gyrata

357225


357225


357225


357225


370114 Combined cervical dystonia Congenital muscular 370953 dystrophy due to dystroglycanopathy Congenital muscular 370953 dystrophy due to dystroglycanopathy Congenital muscular 370953 dystrophy due to dystroglycanopathy Congenital muscular 370953 dystrophy due to dystroglycanopathy Congenital muscular 370953 dystrophy due to dystroglycanopathy Male infertility with azoospermia or 399805 oligozoospermia due to single gene mutation Male infertility with azoospermia or 399805 oligozoospermia due to single gene mutation Male infertility with azoospermia or 399805 oligozoospermia due to single gene mutation Male infertility with azoospermia or 399805 oligozoospermia due to single gene mutation Male infertility with 399808 teratozoospermia due to single gene mutation 402041

Autosomal recessive distal renal tubular acidosis

Autosomal recessive distal renal tubular acidosis Autosomal recessive distal 402041 renal tubular acidosis 402041



Deprecated entities

Cutis verticis gyrata-retinitis 217315 pigmentosa-neurosensory deafness syndrome Cutis verticis gyrata-retinitis 217315 pigmentosa-neurosensory hearing loss syndrome Cutis verticis gyrata-retinitis 217315 pigmentosa-sensorineural hearing loss syndrome Cutis verticis gyrata-thyroid 79482 aplasia-intellectual disability syndrome 79482

Akesson syndrome

Fatal infantile 293838 encephalopathy-pulmonary hypertension syndrome 52428

Congenital muscular dystrophy type 1C

52428

CMD1C

52428

MDC1C

98894

Congenital muscular dystrophy type 1D

98894

MDC1D

Male infertility with normal 217034 virilization due to meiosis defect

217034

Azoospermia due to maturation arrest

217034

Azoospermia due to meiosis defect

Male infertility with normal 217034 virilization due to maturation arrest 352613

Male infertility due to NANOS1 mutation

Autosomal recessive distal 93609 renal tubular acidosis without deafness 93609

AR dRTA without deafness

93609

AR dRTA without hearing loss

168


402041

Disease to be used


Autosomal recessive distal renal tubular acidosis Autosomal recessive distal 402041 renal tubular acidosis 402041

402041


Autosomal recessive distal renal tubular acidosis Autosomal recessive distal 402041 renal tubular acidosis Autosomal recessive distal 402041 renal tubular acidosis 402041

402041


Autosomal recessive distal renal tubular acidosis Autosomal recessive distal 402041 renal tubular acidosis Double outlet right ventricle with subaortic or doubly 423693 committed ventricular septal defect Double outlet right ventricle with subaortic or doubly 423693 committed ventricular septal defect Familial chylomicronemia 444490 syndrome Autosomal recessive 448242 brachyolmia Autosomal recessive 448242 brachyolmia Pseudohypoparathyroidism 457059 with Albright hereditary osteodystrophy X-linked intellectual 457240 disability-short statureoverweight syndrome X-linked intellectual 457240 disability-short statureoverweight syndrome 402041


Deprecated entities

Autosomal recessive distal 93609 renal tubular acidosis without hearing loss Distal renal tubular acidosis 93609 type 1c 93609

dRTA type 1c

Autosomal recessive distal 93611 renal tubular acidosis with deafness 93611

AR dRTA with deafness

93611

AR dRTA with hearing loss

Autosomal recessive distal RTA with deafness Autosomal recessive distal 93611 renal tubular acidosis with hearing loss Distal renal tubular acidosis 93611 type 1b 93611

93611

dRTA type 1b

Double outlet right ventricle 99044 with subaortic ventricular septal defect Double outlet right ventricle 99047 with doubly committed ventricular septal defect 411

Hyperlipoproteinemia type 1

Brachyolmia type 1, Hobaek type Brachyolmia type 1, Toledo 93303 type 93301

665

Albright hereditary osteodystrophy

3059

X-linked intellectual disability, Gu type

3059

MRX35


169

For any questions or comments, please contact us: [email protected] Editor-in-chief : Ana Rath – Editors : Sonja Janmaat & Annie Olry 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, June 2017, 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.