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Abnormality of limbs
Code Aire thérapeutique (HPO) :
HP:0040064Panel par pathologie associée :
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Code pathologie
Nom de la pathologie
- ORPHA:276413 10q22.3q23.3 microdeletion syndrome
- ORPHA:300305 11p15.4 microduplication syndrome
- ORPHA:444002 11q22.2q22.3 microdeletion syndrome
- ORPHA:94063 12q14 microdeletion syndrome
- ORPHA:412035 13q12.3 microdeletion syndrome
- ORPHA:261120 14q11.2 microdeletion syndrome
- ORPHA:264200 14q22q23 microdeletion syndrome
- ORPHA:401935 14q24.1q24.3 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:238446 15q11q13 microduplication syndrome
- ORPHA:199318 15q13.3 microdeletion syndrome
- ORPHA:94065 15q24 microdeletion syndrome
- ORPHA:261211 16p11.2p12.2 microdeletion syndrome
- ORPHA:485405 16p12.1p12.3 triplication syndrome
- ORPHA:261236 16p13.11 microdeletion syndrome
- ORPHA:261243 16p13.11 microduplication syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:261250 16q24.3 microdeletion syndrome
- ORPHA:217385 17p13.3 microduplication syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:261272 17q12 microduplication syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:217340 17q21.31 microduplication syndrome
- ORPHA:261279 17q23.1q23.2 microdeletion syndrome
- ORPHA:529962 17q24.2 microdeletion syndrome
- ORPHA:254346 19p13.12 microdeletion syndrome
- ORPHA:357001 19p13.13 microdeletion syndrome
- ORPHA:447980 19p13.3 microduplication syndrome
- ORPHA:217346 19q13.11 microdeletion syndrome
- ORPHA:1606 1p36 deletion syndrome
- ORPHA:250989 1q21.1 microdeletion syndrome
- ORPHA:250994 1q21.1 microduplication syndrome
- ORPHA:250999 1q41q42 microdeletion syndrome
- ORPHA:261295 20p12.3 microdeletion syndrome
- ORPHA:313781 20p13 microdeletion syndrome
- ORPHA:444051 20q11.2 microdeletion syndrome
- ORPHA:363659 20q11.2 microduplication syndrome
- ORPHA:261311 20q13.33 microdeletion syndrome
- ORPHA:261323 21q22.11q22.12 microdeletion syndrome
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:261349 2p15p16.1 microdeletion syndrome
- ORPHA:228402 2q23.1 microdeletion syndrome
- ORPHA:313947 2q23.1 microduplication syndrome
- ORPHA:1617 2q24 microdeletion syndrome
- ORPHA:251014 2q31.1 microdeletion syndrome
- ORPHA:251019 2q32q33 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- OMIM:250951 3-@methylglutaconic aciduria, type IV
- OMIM:273750 3-M syndrome 1
- OMIM:612921 3-M syndrome 2
- OMIM:614205 3-M syndrome 3
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- ORPHA:7 3C syndrome
- ORPHA:2616 3M syndrome
- ORPHA:293843 3MC syndrome
- OMIM:257920 3mc syndrome 1
- OMIM:265050 3mc syndrome 2
- OMIM:248340 3MC syndrome 3
- ORPHA:435638 3p25.3 microdeletion syndrome
- ORPHA:1621 3q13 microdeletion syndrome
- ORPHA:397695 3q27.3 microdeletion syndrome
- ORPHA:65286 3q29 microdeletion syndrome
- ORPHA:251038 3q29 microduplication syndrome
- ORPHA:8 47,XYY syndrome
- ORPHA:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:99329 48,XYYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- ORPHA:261534 49,XXXYY syndrome
- ORPHA:99330 49,XYYYY syndrome
- ORPHA:238750 4q21 microdeletion syndrome
- ORPHA:228384 5q14.3 microdeletion syndrome
- ORPHA:251046 6p22 microdeletion syndrome
- ORPHA:75857 6q terminal deletion syndrome
- ORPHA:171829 6q16 microdeletion syndrome
- ORPHA:251056 6q25 microdeletion syndrome
- ORPHA:96121 7q11.23 microduplication syndrome
- ORPHA:96092 8p inverted duplication/deletion syndrome
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:251076 8p23.1 duplication syndrome
- ORPHA:251071 8p23.1 microdeletion syndrome
- ORPHA:228399 8q12 microduplication syndrome
- ORPHA:284160 8q21.11 microdeletion syndrome
- ORPHA:178303 8q22.1 microdeletion syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
- ORPHA:324313 9p13 microdeletion syndrome
- ORPHA:531151 9q21.13 microdeletion syndrome
- ORPHA:401923 9q31.1q31.3 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Code pathologie
Nom de la pathologie
- OMIM:100050 Aarskog syndrome, autosomal dominant
- OMIM:305400 Aarskog-Scott syndrome
- ORPHA:915 Aarskog-Scott syndrome
- ORPHA:916 Aase-Smith syndrome
- OMIM:147800 Aase-Smith syndrome I
- ORPHA:14 Abetalipoproteinemia
- ORPHA:920 Ablepharon macrostomia syndrome
- OMIM:200110 Ablepharon-Macrostomia syndrome
- OMIM:261990 Abnormal hair, joint laxity, and developmental delay
- ORPHA:921 Abruzzo-Erickson syndrome
- ORPHA:2310 Absence deformity of leg-cataract syndrome
- ORPHA:1658 Absence of fingerprints-congenital milia syndrome
- ORPHA:980 Absence of the pulmonary artery
- ORPHA:3016 Absent radius-anogenital anomalies syndrome
- ORPHA:945 Acalvaria
- OMIM:619959 ACCES syndrome
- OMIM:231550 Achalasia-Addisonianism-Alacrima syndrome
- OMIM:100700 Achard syndrome
- ORPHA:931 Acheiropodia
- OMIM:200500 Acheiropody acheiropodia acheiropody, Brazilian type
- ORPHA:932 Achondrogenesis
- ORPHA:93299 Achondrogenesis type 1A
- ORPHA:93298 Achondrogenesis type 1B
- ORPHA:93296 Achondrogenesis type 2
- OMIM:200600 Achondrogenesis, type IA
- OMIM:600972 Achondrogenesis, type IB
- OMIM:200610 Achondrogenesis, type II
- OMIM:100800 Achondroplasia
- ORPHA:15 Achondroplasia
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- OMIM:200900 Achondroplasia, so-called, and severe combined immunodeficiency
- ORPHA:40366 Acitretin/etretinate embryopathy
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:454 Acquired ichthyosis
- ORPHA:263534 Acral peeling skin syndrome
- ORPHA:281127 Acral self-healing collodion baby
- ORPHA:958 Acro-renal-mandibular syndrome
- ORPHA:959 Acro-renal-ocular syndrome
- OMIM:200990 Acrocallosal syndrome
- ORPHA:36 Acrocallosal syndrome
- OMIM:607778 Acrocapitofemoral dysplasia
- ORPHA:63446 Acrocapitofemoral dysplasia
- ORPHA:2008 Acrocardiofacial syndrome
- OMIM:200995 Acrocephalopolydactylous dysplasia
- ORPHA:221054 Acrocephalopolydactyly
- OMIM:201020 Acrocephalopolysyndactyly type IV
- OMIM:201050 Acrocraniofacial dysostosis
- ORPHA:949 Acrocraniofacial dysostosis
- ORPHA:950 Acrodysostosis
- OMIM:101800 Acrodysostosis 1, with or without hormone resistance
- OMIM:614613 Acrodysostosis 2 with or without hormone resistance
- ORPHA:280651 Acrodysostosis with multiple hormone resistance
- ORPHA:2956 Acrodysplasia scoliosis
- OMIM:154400 Acrofacial dysostosis 1, Nager type
- OMIM:201170 Acrofacial dysostosis syndrome of rodriguez
- OMIM:101805 Acrofacial dysostosis, Catania type
- ORPHA:1786 Acrofacial dysostosis, Catania type
- OMIM:616462 Acrofacial dysostosis, Cincinnati type
- ORPHA:1787 Acrofacial dysostosis, Palagonia type
- OMIM:601829 Acrofacial dysostosis, Palagonia type
- ORPHA:1788 Acrofacial dysostosis, Rodríguez type
- ORPHA:952 Acrofacial dysostosis, Weyers type
- ORPHA:1784 Acrofrontofacionasal dysostosis
- OMIM:201180 Acrofrontofacionasal dysostosis 1
- OMIM:239710 Acrofrontofacionasal dysostosis 2
- ORPHA:2500 Acrogeria
- ORPHA:38 Acrokeratoelastoidosis of Costa
- OMIM:101900 Acrokeratosis verruciformis
- ORPHA:79151 Acrokeratosis verruciformis of Hopf
- OMIM:102100 Acromegaloid changes, cutis verticis gyrata, and corneal leukoma
- OMIM:102150 Acromegaloid facial appearance syndrome
- ORPHA:963 Acromegaly
- OMIM:603671 Acromelic frontonasal dysostosis
- ORPHA:1827 Acromelic frontonasal dysplasia
- OMIM:200700 Acromesomelic dysplasia 2A
- OMIM:619636 Acromesomelic dysplasia 4
- OMIM:609441 Acromesomelic dysplasia, Demirhan type
- ORPHA:2098 Acromesomelic dysplasia, Grebe type
- ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type
- OMIM:201250 Acromesomelic dysplasia, Hunter-Thompson type
- ORPHA:40 Acromesomelic dysplasia, Maroteaux type
- OMIM:602875 Acromesomelic dysplasia, Maroteaux type
- ORPHA:969 Acromicric dysplasia
- OMIM:102370 Acromicric dysplasia
- OMIM:102400 ACROOSTEOLYSIS
- ORPHA:2980 Acrootoocular syndrome
- OMIM:605967 Acropectoral syndrome
- ORPHA:85203 Acropectoral syndrome
- ORPHA:957 Acropectorovertebral dysplasia
- OMIM:102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF
- ORPHA:971 Acrorenal syndrome
- OMIM:102520 Acrorenal syndrome
- OMIM:201310 Acrorenal syndrome, autosomal recessive
- OMIM:200980 Acrorenal-Mandibular syndrome
- ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy
- ORPHA:79276 Acute intermittent porphyria
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:90064 Acute peripheral arterial occlusion
- ORPHA:139417 Acute transverse myelitis
- OMIM:102650 Adactylia, unilateral
- ORPHA:974 Adams-Oliver syndrome
- OMIM:100300 Adams-Oliver syndrome 1
- OMIM:614219 Adams-Oliver syndrome 2
- OMIM:614814 Adams-Oliver syndrome 3
- OMIM:615297 Adams-Oliver syndrome 4
- OMIM:616028 Adams-Oliver syndrome 5
- OMIM:616589 Adams-Oliver syndrome 6
- ORPHA:99976 Adenocarcinoma of the esophagus
- ORPHA:45 Adenosine monophosphate deaminase deficiency
- ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy
- ORPHA:404448 ADNP syndrome
- OMIM:300100 Adrenoleukodystrophy
- ORPHA:139399 Adrenomyeloneuropathy
- ORPHA:206448 Adult Krabbe disease
- ORPHA:978 ADULT syndrome
- OMIM:103285 Adult syndrome
- ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia
- ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329478 Adult-onset distal myopathy due to VCP mutation
- ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- ORPHA:171442 Adult-onset nemaline myopathy
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- OMIM:218000 Agenesis of the corpus callosum with peripheral neuropathy
- ORPHA:50 Aicardi syndrome
- OMIM:304050 Aicardi syndrome
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619487 Aicardi-Goutieres syndrome 9
- OMIM:617694 Al Kaissi syndrome
- OMIM:609465 Al-Gazali syndrome
- OMIM:607131 Al-Gazali-Bakalinova syndrome
- OMIM:616459 Al-Raqad syndrome
- ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:52 Alagille syndrome
- OMIM:118450 Alagille syndrome 1
- OMIM:617126 Alazami-Yuan syndrome
- ORPHA:53 Albers-Schönberg osteopetrosis
- ORPHA:363722 Alexander disease type II
- ORPHA:280071 ALG11-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:324422 ALG13-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79320 ALG6-CDG
- ORPHA:79325 ALG8-CDG
- ORPHA:79328 ALG9-CDG
- ORPHA:56 Alkaptonuria
- OMIM:203500 Alkaptonuria
- OMIM:617822 Alkuraya-Kucinskas syndrome
- ORPHA:59 Allan-Herndon-Dudley syndrome
- OMIM:300523 Allan-Herndon-Dudley syndrome
- ORPHA:93925 Alobar holoprosencephaly
- OMIM:612079 Alopecia, neurologic defects, and endocrinopathy syndrome
- OMIM:203550 Alopecia-Contractures-Dwarfism mental retardation syndrome
- ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome
- ORPHA:2850 Alopecia-intellectual disability syndrome
- OMIM:203760 Alpha-2-deficient collagen disease
- ORPHA:399058 Alpha-B crystallin-related late-onset myopathy
- ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- OMIM:248500 Alpha-mannosidosis
- ORPHA:61 Alpha-mannosidosis
- ORPHA:309282 Alpha-mannosidosis, infantile form
- ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
- ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome
- OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked
- ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- ORPHA:2131 Alternating hemiplegia of childhood
- ORPHA:284 Alveolar echinococcosis
- OMIM:104350 Amastia, bilateral, with ureteral triplication and dysmorphism
- OMIM:619151 AMED syndrome, digenic
- OMIM:104400 Amelia and terminal transverse hemimelia
- OMIM:601360 Amelia, autosomal recessive
- OMIM:600325 Aminopterin syndrome sine aminopterin
- ORPHA:1908 Aminopterin/methotrexate embryofetopathy
- ORPHA:99742 Amish lethal microcephaly
- OMIM:300194 AMME complex
- OMIM:614373 Amyotrophic lateral sclerosis 16, juvenile
- OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile
- OMIM:606070 Amyotrophic lateral sclerosis 21
- OMIM:619133 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
- OMIM:606640 Amyotrophic lateral sclerosis 3
- ORPHA:357043 Amyotrophic lateral sclerosis type 4
- OMIM:602440 Amyotrophy, monomelic
- OMIM:607095 Anauxetic dysplasia 1
- OMIM:617396 Anauxetic dysplasia 2
- OMIM:618853 Anauxetic dysplasia 3
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- ORPHA:37553 Andersen-Tawil syndrome
- ORPHA:157954 ANE syndrome
- OMIM:224120 Anemia, congenital dyserythropoietic, type Ia
- OMIM:615631 Anemia, congenital dyserythropoietic, type Ib
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia
- OMIM:105835 Angel-Shaped phalangoepiphyseal dysplasia
- ORPHA:72 Angelman syndrome
- ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion
- OMIM:600419 Angiokeratoma corporis diffusum with arteriovenous fistulas
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:75508 Angioosteohypotrophic syndrome
- OMIM:106220 Aniridia and absent patella
- ORPHA:1069 Aniridia-absent patella syndrome
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis
- OMIM:106400 Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included
- ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12
- ORPHA:69125 Anonychia with flexural pigmentation
- OMIM:106900 ANONYCHIA-ECTRODACTYLY
- ORPHA:1094 Anonychia-microcephaly syndrome
- OMIM:106990 Anonychia-Onychodystrophy with brachydactyly type B and ectrodactyly
- OMIM:106995 Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges
- ORPHA:1104 Anophthalmia plus syndrome
- ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita
- OMIM:601427 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
- ORPHA:83 Antley-Bixler syndrome
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- OMIM:207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- OMIM:616166 Aortic aneurysm, familial thoracic 9
- ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- ORPHA:2299 Aortic arch interruption
- OMIM:101200 Apert syndrome
- ORPHA:87 Apert syndrome
- OMIM:600384 Aphalangia, partial, with syndactyly and duplication of metatarsaliv
- OMIM:207620 Aphalangy with hemivertebrae
- ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- ORPHA:1114 Aplasia cutis congenita
- ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- OMIM:601374 Aprosencephaly and cerebellar dysgenesis
- OMIM:207770 Aprosencephaly syndrome
- ORPHA:498359 Aquagenic palmoplantar keratoderma
- ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome
- ORPHA:2356 Arachnoid cyst
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:1133 AREDYLD syndrome
- OMIM:243910 Arima syndrome
- OMIM:107900 Arms, malformation of
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:1136 Arnold-Chiari malformation type II
- ORPHA:91 Aromatase deficiency
- OMIM:608643 Aromatic L-amino acid decarboxylase deficiency
- OMIM:611528 Arrhythmogenic right ventricular dysplasia 12
- OMIM:610476 Arrhythmogenic right ventricular dysplasia, familial, 11
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:208050 Arterial tortuosity syndrome
- OMIM:208060 Arteriosclerosis, severe juvenile
- ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome
- OMIM:601701 Arthrogryposis and ectodermal dysplasia
- OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type
- OMIM:618947 Arthrogryposis multiplex congenita 5
- OMIM:619334 Arthrogryposis multiplex congenita 6
- OMIM:208100 Arthrogryposis multiplex congenita, Neurogenic type
- OMIM:618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
- OMIM:617468 Arthrogryposis multiplex congenita, neurogenic, with myelin defect
- ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome
- OMIM:618265 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- OMIM:300158 Arthrogryposis, congenital, lower limb, X-linked
- OMIM:187370 Arthrogryposis, distal, type 10
- OMIM:620019 Arthrogryposis, distal, type 11
- OMIM:108120 Arthrogryposis, distal, type 1A
- OMIM:614335 Arthrogryposis, distal, type 1B
- OMIM:619110 Arthrogryposis, distal, type 1C
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:601680 Arthrogryposis, distal, type 2B
- OMIM:618435 Arthrogryposis, distal, type 2B2
- OMIM:618436 Arthrogryposis, distal, type 2B3
- OMIM:121070 Arthrogryposis, distal, type 2E
- OMIM:114300 Arthrogryposis, distal, type 3
- OMIM:609128 Arthrogryposis, distal, type 4
- OMIM:108145 Arthrogryposis, distal, type 5
- OMIM:615065 Arthrogryposis, distal, type 5D
- OMIM:158300 Arthrogryposis, distal, type 7
- OMIM:617146 Arthrogryposis, distal, with impaired proprioception and touch
- OMIM:615553 Arthrogryposis, mental retardation, and seizures
- OMIM:614262 Arthrogryposis, perthes disease, and upward gaze palsy
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- OMIM:208230 Arthropathy, progressive pseudorheumatoid, of childhood
- ORPHA:2302 Asbestos intoxication
- ORPHA:1253 Ascher syndrome
- OMIM:615574 Asparagine synthetase deficiency
- ORPHA:93 Aspartylglucosaminuria
- OMIM:611263 Asphyxiating thoracic dystrophy 2
- OMIM:613091 Asphyxiating thoracic dystrophy 3
- ORPHA:85175 Astley-Kendall dysplasia
- OMIM:108450 Asymmetric short stature syndrome
- ORPHA:96 Ataxia with vitamin E deficiency
- OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
- OMIM:208920 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- OMIM:609033 Ataxia, posterior column, with retinitis pigmentosa
- OMIM:270500 Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
- ORPHA:459033 Ataxia-oculomotor apraxia type 4
- OMIM:159550 Ataxia-Pancytopenia syndrome
- ORPHA:1184 Ataxia-photosensitivity-short stature syndrome
- ORPHA:251347 Ataxia-telangiectasia-like disorder
- OMIM:604391 Ataxia-telangiectasia-like disorder 1
- OMIM:615919 Ataxia-Telangiectasia-Like disorder 2
- ORPHA:1190 Atelosteogenesis type I
- ORPHA:56304 Atelosteogenesis type II
- ORPHA:56305 Atelosteogenesis type III
- OMIM:108720 Atelosteogenesis, type I
- OMIM:256050 Atelosteogenesis, type II
- OMIM:108721 Atelosteogenesis, type III
- OMIM:300431 Atkin-Flaitz syndrome
- ORPHA:99106 Atrial septal defect, ostium primum type
- ORPHA:99103 Atrial septal defect, ostium secundum type
- ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- OMIM:600123 Atrioventricular septal defect with blepharophimosis and anal andradial defects
- ORPHA:391411 Atypical juvenile parkinsonism
- ORPHA:3095 Atypical Rett syndrome
- ORPHA:79474 Atypical Werner syndrome
- OMIM:616580 Au-Kline syndrome
- OMIM:209770 Aural atresia, multiple congenital anomalies, and mental retardation
- OMIM:109050 Auralcephalosyndactyly
- OMIM:109000 AURICULOOSTEODYSPLASIA
- ORPHA:114 Auriculoosteodysplasia
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- ORPHA:747 Autoimmune pulmonary alveolar proteinosis
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- ORPHA:93304 Autosomal dominant brachyolmia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:99 Autosomal dominant cerebellar ataxia
- ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E
- ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F
- ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K
- ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W
- ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia
- ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:312 Autosomal dominant epidermolytic ichthyosis
- ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:89937 Autosomal dominant hypophosphatemic rickets
- ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome
- ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A
- ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- ORPHA:93328 Autosomal dominant omodysplasia
- ORPHA:67036 Autosomal dominant optic atrophy and cataract
- ORPHA:1215 Autosomal dominant optic atrophy plus syndrome
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia
- ORPHA:1300 Autosomal dominant popliteal pterygium syndrome
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:3107 Autosomal dominant Robinow syndrome
- ORPHA:251282 Autosomal dominant spastic ataxia type 1
- ORPHA:100991 Autosomal dominant spastic paraplegia type 10
- ORPHA:100993 Autosomal dominant spastic paraplegia type 12
- ORPHA:100994 Autosomal dominant spastic paraplegia type 13
- ORPHA:100998 Autosomal dominant spastic paraplegia type 17
- ORPHA:100999 Autosomal dominant spastic paraplegia type 19
- ORPHA:101009 Autosomal dominant spastic paraplegia type 29
- ORPHA:100984 Autosomal dominant spastic paraplegia type 3
- ORPHA:101011 Autosomal dominant spastic paraplegia type 31
- ORPHA:320365 Autosomal dominant spastic paraplegia type 36
- ORPHA:171612 Autosomal dominant spastic paraplegia type 37
- ORPHA:171617 Autosomal dominant spastic paraplegia type 38
- ORPHA:100985 Autosomal dominant spastic paraplegia type 4
- ORPHA:320355 Autosomal dominant spastic paraplegia type 41
- ORPHA:171863 Autosomal dominant spastic paraplegia type 42
- ORPHA:100988 Autosomal dominant spastic paraplegia type 6
- ORPHA:444099 Autosomal dominant spastic paraplegia type 73
- ORPHA:100989 Autosomal dominant spastic paraplegia type 8
- ORPHA:447753 Autosomal dominant spastic paraplegia type 9A
- ORPHA:447757 Autosomal dominant spastic paraplegia type 9B
- ORPHA:1027 Autosomal recessive amelia
- ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency
- ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency
- ORPHA:88644 Autosomal recessive ataxia, Beauce type
- ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia
- ORPHA:169186 Autosomal recessive centronuclear myopathy
- ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity
- ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome
- ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3
- ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:90349 Autosomal recessive cutis laxa type 1
- ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type
- ORPHA:357058 Autosomal recessive cutis laxa type 2A
- ORPHA:2776 Autosomal recessive distal osteolysis syndrome
- ORPHA:101150 Autosomal recessive dopa-responsive dystonia
- ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy
- ORPHA:1974 Autosomal recessive faciodigitogenital syndrome
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets
- ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:2990 Autosomal recessive multiple pterygium syndrome
- ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita
- ORPHA:93329 Autosomal recessive omodysplasia
- ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:1507 Autosomal recessive Robinow syndrome
- ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- ORPHA:2822 Autosomal recessive spastic paraplegia type 11
- ORPHA:100995 Autosomal recessive spastic paraplegia type 14
- ORPHA:100996 Autosomal recessive spastic paraplegia type 15
- ORPHA:209951 Autosomal recessive spastic paraplegia type 18
- ORPHA:101000 Autosomal recessive spastic paraplegia type 20
- ORPHA:101001 Autosomal recessive spastic paraplegia type 21
- ORPHA:101003 Autosomal recessive spastic paraplegia type 23
- ORPHA:101006 Autosomal recessive spastic paraplegia type 26
- ORPHA:101008 Autosomal recessive spastic paraplegia type 28
- ORPHA:171622 Autosomal recessive spastic paraplegia type 32
- ORPHA:171629 Autosomal recessive spastic paraplegia type 35
- ORPHA:320370 Autosomal recessive spastic paraplegia type 43
- ORPHA:320401 Autosomal recessive spastic paraplegia type 44
- ORPHA:320396 Autosomal recessive spastic paraplegia type 45
- ORPHA:320391 Autosomal recessive spastic paraplegia type 46
- ORPHA:306511 Autosomal recessive spastic paraplegia type 48
- ORPHA:319199 Autosomal recessive spastic paraplegia type 53
- ORPHA:320380 Autosomal recessive spastic paraplegia type 54
- ORPHA:320375 Autosomal recessive spastic paraplegia type 55
- ORPHA:431329 Autosomal recessive spastic paraplegia type 57
- ORPHA:401795 Autosomal recessive spastic paraplegia type 59
- ORPHA:100986 Autosomal recessive spastic paraplegia type 5A
- ORPHA:401800 Autosomal recessive spastic paraplegia type 60
- ORPHA:401780 Autosomal recessive spastic paraplegia type 61
- ORPHA:401785 Autosomal recessive spastic paraplegia type 62
- ORPHA:401815 Autosomal recessive spastic paraplegia type 66
- ORPHA:468661 Autosomal recessive spastic paraplegia type 74
- ORPHA:488594 Autosomal recessive spastic paraplegia type 76
- ORPHA:466722 Autosomal recessive spastic paraplegia type 77
- ORPHA:513436 Autosomal recessive spastic paraplegia type 78
- ORPHA:447760 Autosomal recessive spastic paraplegia type 9B
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:250984 Autosomal recessive Stickler syndrome
- ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:101010 Autosomal spastic paraplegia type 30
- ORPHA:401849 Autosomal spastic paraplegia type 72
- OMIM:608805 Avascular necrosis of femoral head, primary, 1
- OMIM:617383 Avascular necrosis of femoral head, primary, 2
- OMIM:109120 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- ORPHA:168549 Axial spondylometaphyseal dysplasia
- ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
- ORPHA:1272 Aymé-Gripp syndrome
- OMIM:601088 Ayme-Gripp syndrome
Code pathologie
Nom de la pathologie
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:108 Babesiosis
- ORPHA:36234 Bacterial toxic-shock syndrome
- ORPHA:352577 Bainbridge-Ropers syndrome
- OMIM:615485 Bainbridge-Ropers syndrome
- OMIM:618218 Baker-Gordon syndrome
- OMIM:218600 Baller-Gerold syndrome
- ORPHA:1225 Baller-Gerold syndrome
- ORPHA:1227 Bangstad syndrome
- ORPHA:1228 Banki syndrome
- OMIM:153480 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome
- OMIM:243310 Baraitser-Winter syndrome 1
- OMIM:619255 Baralle-Macken syndrome
- OMIM:209885 Barber-Say syndrome
- ORPHA:110 Bardet-Biedl syndrome
- OMIM:209900 Bardet-Biedl syndrome 1
- OMIM:615987 Bardet-Biedl syndrome 10
- OMIM:615988 Bardet-Biedl syndrome 11
- OMIM:615989 Bardet-Biedl syndrome 12
- OMIM:615990 Bardet-Biedl syndrome 13
- OMIM:615991 Bardet-Biedl syndrome 14
- OMIM:615993 Bardet-Biedl syndrome 16
- OMIM:615994 Bardet-Biedl syndrome 17
- OMIM:615995 Bardet-Biedl syndrome 18
- OMIM:615996 Bardet-Biedl syndrome 19
- OMIM:615981 Bardet-Biedl syndrome 2
- OMIM:619471 Bardet-Biedl syndrome 20
- OMIM:617406 Bardet-Biedl syndrome 21
- OMIM:617119 Bardet-Biedl syndrome 22
- OMIM:600151 Bardet-Biedl syndrome 3
- OMIM:615982 Bardet-Biedl syndrome 4
- OMIM:615983 Bardet-Biedl syndrome 5
- OMIM:605231 Bardet-Biedl syndrome 6
- OMIM:615984 Bardet-Biedl syndrome 7
- OMIM:615985 Bardet-Biedl syndrome 8
- OMIM:615986 Bardet-Biedl syndrome 9
- OMIM:149200 Bart-Pumphrey syndrome
- OMIM:302060 Barth syndrome
- ORPHA:1234 Bartsocas-Papas syndrome
- OMIM:109400 Basal cell nevus syndrome
- OMIM:605827 Basaloid follicular hamartoma syndrome, generalized, autosomal dominant
- OMIM:129200 Basan syndrome
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- OMIM:109500 Basilar impression, primary
- OMIM:301032 Basilicata-Akhtar syndrome
- ORPHA:100976 Bathing suit ichthyosis
- ORPHA:166113 Bazex syndrome
- ORPHA:113 Bazex-Dupré-Christol syndrome
- OMIM:123790 Beare-Stevenson cutis gyrata syndrome
- OMIM:618798 Beck-Fahrner syndrome
- ORPHA:98895 Becker muscular dystrophy
- ORPHA:64755 Becker nevus syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- OMIM:210000 Behr syndrome
- ORPHA:252164 Benign schwannoma
- OMIM:614592 Bent bone dysplasia syndrome
- OMIM:620076 Bent bone dysplasia syndrome 2
- ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria
- ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- ORPHA:231214 Beta-thalassemia major
- ORPHA:610 Bethlem myopathy
- OMIM:158810 Bethlem myopathy 1
- OMIM:616471 Bethlem myopathy 2
- ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- ORPHA:79138 Bickerstaff brainstem encephalitis
- OMIM:210350 Biemond syndrome II
- ORPHA:141333 Biemond syndrome type 2
- ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria
- ORPHA:98889 Bilateral perisylvian polymicrogyria
- ORPHA:268940 Bilateral polymicrogyria
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:79241 Biotinidase deficiency
- OMIM:612292 Birk-Barel mental retardation dysmorphism syndrome
- OMIM:617595 Birk-Landau-Perez syndrome
- ORPHA:124 Blackfan-Diamond anemia
- ORPHA:90340 Blau syndrome
- OMIM:186580 Blau syndrome
- ORPHA:1997 Blepharo-cheilo-odontic syndrome
- OMIM:119580 Blepharocheilodontic syndrome 1
- OMIM:617681 Blepharocheilodontic syndrome 2
- ORPHA:1252 Blepharonasofacial malformation syndrome
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:210745 Blepharophimosis with ptosis, syndactyly, and short stature
- OMIM:619293 Blepharophimosis-impaired intellectual development syndrome
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type
- ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- OMIM:210900 Bloom syndrome
- ORPHA:2768 Blount disease
- OMIM:259200 Blount disease, adolescent
- ORPHA:217266 BNAR syndrome
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- ORPHA:1842 Bone dysplasia, lethal Holmgren type
- OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness
- OMIM:617052 Bone marrow failure syndrome 3
- OMIM:618116 Bone marrow failure syndrome 4
- OMIM:112300 Book syndrome
- ORPHA:1263 Boomerang dysplasia
- OMIM:112310 Boomerang dysplasia
- OMIM:301900 Borjeson-Forssman-Lehmann syndrome
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome
- OMIM:619543 Boudin-Mortier syndrome
- ORPHA:83313 Boutonneuse fever
- OMIM:211180 Bowen-Conradi syndrome
- ORPHA:1270 Bowen-Conradi syndrome
- OMIM:601357 Brachial amelia, cleft lip, and holoprosencephaly
- OMIM:112370 Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay
- OMIM:601353 Brachycephaly, deafness, cataract, microstomia, and mental retardation
- OMIM:617412 Brachycephaly, trichomegaly, and developmental delay
- ORPHA:2619 Brachydactylous dwarfism, Mseleni type
- ORPHA:93388 Brachydactyly type A1
- ORPHA:93396 Brachydactyly type A2
- ORPHA:93394 Brachydactyly type A4
- ORPHA:93397 Brachydactyly type A7
- ORPHA:93383 Brachydactyly type B
- ORPHA:140908 Brachydactyly type B2
- ORPHA:93384 Brachydactyly type C
- ORPHA:93387 Brachydactyly type E
- OMIM:610023 Brachydactyly, coloboma, and anterior segment dysgenesis
- OMIM:112440 Brachydactyly, combined B and E types
- OMIM:301940 Brachydactyly, Mononen type
- OMIM:112450 Brachydactyly, preaxial, with hallux varus and thumb abduction
- OMIM:112500 Brachydactyly, type A1
- OMIM:607004 Brachydactyly, type A1, B
- OMIM:615072 Brachydactyly, type A1, C
- OMIM:616849 Brachydactyly, type A1, D
- OMIM:613627 Brachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation
- OMIM:112600 Brachydactyly, type A2
- OMIM:211369 Brachydactyly, type A2, with microcephaly
- OMIM:112700 Brachydactyly, type A3
- OMIM:112800 Brachydactyly, type A4
- OMIM:112910 Brachydactyly, type A6
- OMIM:113000 Brachydactyly, type B1
- OMIM:611377 Brachydactyly, type B2
- OMIM:113100 Brachydactyly, type C
- OMIM:113200 Brachydactyly, type D
- OMIM:113300 Brachydactyly, type E
- OMIM:113301 Brachydactyly, type e, with atrial septal defect, type II
- OMIM:613382 Brachydactyly, type E2
- ORPHA:1276 Brachydactyly-arterial hypertension syndrome
- OMIM:113450 Brachydactyly-Distal symphalangism syndrome
- OMIM:113310 Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia
- ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome
- ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- OMIM:113400 Brachydactyly-Nystagmus-Cerebellar ataxia
- ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome
- ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome
- OMIM:610713 Brachydactyly-Syndactyly syndrome
- ORPHA:93409 Brachydactyly-syndactyly, Zhao type
- OMIM:113475 Brachymetatarsus IV
- OMIM:113477 Brachymorphism-Onychodysplasia-Dysphalangism syndrome
- ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome
- OMIM:612847 Brachyolmia 4 with mild epiphyseal and metaphyseal changes
- OMIM:271530 Brachyolmia type 1, Hobaek type
- OMIM:271630 Brachyolmia type 1, Toledo type
- OMIM:113500 Brachyolmia type 3
- OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome
- ORPHA:52047 Braddock syndrome
- OMIM:619980 Braddock-Carey syndrome 1
- OMIM:619981 Braddock-Carey syndrome 2
- OMIM:618476 Brain abnormalities, neurodegeneration, and dysosteosclerosis
- ORPHA:352649 Brain dopamine-serotonin vesicular transport disease
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- ORPHA:1297 Branchio-oculo-facial syndrome
- ORPHA:50815 Branchiogenic deafness syndrome
- OMIM:609166 Branchiogenic-deafness syndrome
- OMIM:113620 Branchiooculofacial syndrome
- OMIM:113650 Branchiootorenal syndrome 1
- ORPHA:1299 Branchioskeletogenital syndrome
- OMIM:616001 Breasts and/or nipples, aplasia or hypoplasia of, 2
- ORPHA:85284 BRESEK syndrome
- ORPHA:90354 Brittle cornea syndrome
- OMIM:229200 Brittle cornea syndrome
- OMIM:602071 Broad terminal phalanges, familial
- OMIM:211530 Brown-Vialetto-Van laere syndrome 1
- OMIM:614707 Brown-Vialetto-Van laere syndrome 2
- ORPHA:1304 Brucellosis
- ORPHA:2771 Bruck syndrome
- OMIM:259450 Bruck syndrome 1
- OMIM:609220 Bruck syndrome 2
- OMIM:619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1
- OMIM:619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2
- OMIM:302000 Bullous dystrophy, hereditary Macular type
- OMIM:619314 Buratti-Harel syndrome
- OMIM:608572 Burn-Mckeown syndrome
- ORPHA:1306 Buschke-Ollendorff syndrome
- ORPHA:1262 Böök syndrome
Code pathologie
Nom de la pathologie
- ORPHA:1308 C syndrome
- OMIM:211750 C syndrome
- OMIM:114000 Caffey disease
- ORPHA:1310 Caffey disease
- ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1
- OMIM:126550 Calvarial doughnut lesions with bone fragility
- ORPHA:1318 Campomelia, Cumming type
- OMIM:211890 Campomelia, Cumming type
- OMIM:114290 Campomelic dysplasia
- ORPHA:140 Campomelic dysplasia
- OMIM:114150 CAMPTOBRACHYDACTYLY
- ORPHA:1319 Camptobrachydactyly
- OMIM:114200 Camptodactyly 1
- ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1
- ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2
- ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3
- OMIM:211910 Camptodactyly syndrome, guadalajara, type I
- OMIM:611929 Camptodactyly syndrome, Guadalajara, type III
- OMIM:211960 Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases
- OMIM:610474 Camptodactyly, tall stature, and hearing loss syndrome
- OMIM:208250 Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome
- ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome
- ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- ORPHA:1325 Camptodactyly-taurinuria syndrome
- OMIM:211990 Camptomelic syndrome, Long-Limb type
- OMIM:607539 Camptosynpolydactyly, complex
- OMIM:131300 Camurati-Engelmann disease
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:606631 Camurati-engelmann disease, type 2
- OMIM:618373 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
- ORPHA:1517 Cantú syndrome
- ORPHA:171881 Cap myopathy
- OMIM:613089 Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay
- OMIM:618280 Cardiac-Urogenital syndrome
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- OMIM:619142 Cardioacrofacial dysplasia 1
- OMIM:619143 Cardioacrofacial dysplasia 2
- OMIM:212100 Cardioauditory syndrome of sanchez cascos
- ORPHA:2872 Cardiocranial syndrome, Pfeiffer type
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:615280 Cardiofaciocutaneous syndrome 4
- OMIM:619123 Cardiofacioneurodevelopmental syndrome
- OMIM:611615 Cardiomyopathy, dilated, 1X
- OMIM:605676 Cardiomyopathy, dilated, with woolly hair and keratoderma
- OMIM:615821 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
- OMIM:606842 Cardioneuromyopathy with hyaline masses and nemaline rods
- OMIM:157800 Cardiospondylocarpofacial syndrome
- ORPHA:3238 Cardiospondylocarpofacial syndrome
- ORPHA:1358 Carey-Fineman-Ziter syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- OMIM:619941 Carey-Fineman-Ziter syndrome 2
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- OMIM:619161 Carpal tunnel syndrome 2
- ORPHA:65759 Carpenter syndrome
- OMIM:201000 Carpenter syndrome 1
- OMIM:614976 Carpenter syndrome 2
- OMIM:250250 Cartilage-hair hypoplasia
- ORPHA:175 Cartilage-hair hypoplasia
- ORPHA:65282 Carvajal syndrome
- OMIM:115470 Cat eye syndrome
- OMIM:212540 Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
- ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome
- ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- OMIM:616145 Catel-Manzke syndrome
- ORPHA:1388 Catel-Manzke syndrome
- ORPHA:1123 Caudal appendage-deafness syndrome
- ORPHA:3027 Caudal regression syndrome
- ORPHA:505652 CDKL5-deficiency disorder
- ORPHA:66631 CEDNIK syndrome
- OMIM:212780 Cenani-Lenz syndactyly syndrome
- ORPHA:3258 Cenani-Lenz syndrome
- ORPHA:597 Central core disease
- OMIM:117000 Central core disease
- OMIM:212850 Cerebellar ataxia and neurosensory deafness
- OMIM:601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
- OMIM:619576 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
- OMIM:224050 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
- OMIM:610185 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2
- ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome
- ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome
- OMIM:616875 Cerebellar atrophy, visual impairment, and psychomotor retardation
- OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- OMIM:213010 Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome
- ORPHA:444072 Cerebellar-facial-dental syndrome
- OMIM:616202 Cerebellofaciodental syndrome
- OMIM:300352 Cerebral creatine deficiency syndrome 1
- OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- OMIM:302700 Cerebral sclerosis, diffuse, Scholz type
- ORPHA:1393 Cerebrocostomandibular syndrome
- OMIM:117650 Cerebrocostomandibular syndrome
- ORPHA:314679 Cerebrofacioarticular syndrome
- OMIM:214150 Cerebrooculofacioskeletal syndrome 1
- OMIM:610756 Cerebrooculofacioskeletal syndrome 2
- OMIM:616570 Cerebrooculofacioskeletal syndrome 3
- OMIM:610758 Cerebrooculofacioskeletal syndrome 4
- OMIM:605627 Cerebrooculonasal syndrome
- ORPHA:66625 Cerebrooculonasal syndrome
- OMIM:612199 Cerebroretinal microangiopathy with calcifications and cysts
- OMIM:213700 Cerebrotendinous xanthomatosis
- ORPHA:909 Cerebrotendinous xanthomatosis
- OMIM:610127 Ceroid lipofuscinosis, neuronal, 10
- OMIM:601389 Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction
- ORPHA:1401 CHAND syndrome
- OMIM:169100 Char syndrome
- ORPHA:46627 Char syndrome
- OMIM:118300 Charcot-Marie-Tooth disease and deafness
- ORPHA:101081 Charcot-Marie-Tooth disease type 1A
- ORPHA:90658 Charcot-Marie-Tooth disease type 1E
- ORPHA:101085 Charcot-Marie-Tooth disease type 1F
- ORPHA:98856 Charcot-Marie-Tooth disease type 2B1
- ORPHA:99948 Charcot-Marie-Tooth disease type 4A
- ORPHA:99956 Charcot-Marie-Tooth disease type 4B2
- ORPHA:99949 Charcot-Marie-Tooth disease type 4C
- ORPHA:99950 Charcot-Marie-Tooth disease type 4D
- ORPHA:99953 Charcot-Marie-Tooth disease type 4G
- OMIM:118301 Charcot-Marie-Tooth disease with ptosis and parkinsonism
- OMIM:617087 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
- OMIM:118210 Charcot-Marie-Tooth disease, axonal, type 2A1
- OMIM:609260 Charcot-marie-tooth disease, axonal, type 2A2A
- OMIM:600882 Charcot-Marie-Tooth disease, axonal, type 2B
- OMIM:605588 Charcot-Marie-Tooth disease, axonal, type 2B1
- OMIM:616924 Charcot-Marie-Tooth disease, axonal, type 2CC
- OMIM:601472 Charcot-Marie-Tooth disease, axonal, type 2D
- OMIM:618036 Charcot-Marie-Tooth disease, axonal, type 2DD
- OMIM:607684 Charcot-Marie-Tooth disease, axonal, type 2E
- OMIM:618400 Charcot-Marie-Tooth disease, axonal, type 2EE
- OMIM:606595 Charcot-Marie-Tooth disease, axonal, type 2F
- OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF
- OMIM:607731 Charcot-Marie-Tooth disease, axonal, type 2H
- OMIM:619574 Charcot-Marie-Tooth disease, axonal, type 2HH
- OMIM:607677 Charcot-Marie-Tooth disease, axonal, type 2I
- OMIM:620068 Charcot-Marie-Tooth disease, axonal, type 2II
- OMIM:607831 Charcot-Marie-Tooth disease, axonal, type 2K
- OMIM:608673 Charcot-Marie-Tooth disease, axonal, type 2L
- OMIM:613287 Charcot-Marie-Tooth disease, axonal, type 2N
- OMIM:614228 Charcot-marie-tooth disease, axonal, type 2O
- OMIM:614436 Charcot-Marie-Tooth disease, axonal, type 2P
- OMIM:615025 Charcot-Marie-Tooth disease, axonal, type 2Q
- OMIM:615490 Charcot-Marie-Tooth disease, axonal, type 2R
- OMIM:616155 Charcot-Marie-Tooth disease, axonal, type 2S
- OMIM:617017 Charcot-Marie-Tooth disease, axonal, type 2T
- OMIM:616280 Charcot-Marie-Tooth disease, axonal, type 2U
- OMIM:616625 Charcot-Marie-Tooth disease, axonal, type 2W
- OMIM:616668 Charcot-Marie-Tooth disease, axonal, type 2X
- OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y
- OMIM:616688 Charcot-Marie-Tooth disease, axonal, type 2Z
- OMIM:607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive
- OMIM:118220 Charcot-Marie-Tooth disease, demyelinating, type 1A
- OMIM:601098 Charcot-Marie-Tooth disease, demyelinating, type 1C
- OMIM:607678 Charcot-Marie-Tooth disease, demyelinating, type 1D
- OMIM:607734 Charcot-Marie-Tooth disease, demyelinating, type 1F
- OMIM:618279 Charcot-Marie-Tooth disease, demyelinating, type 1G
- OMIM:619764 Charcot-Marie-Tooth disease, demyelinating, type 1H
- OMIM:614895 Charcot-Marie-Tooth disease, demyelinating, type 4F
- OMIM:606483 Charcot-Marie-Tooth disease, dominant intermediate A
- OMIM:606482 Charcot-Marie-Tooth disease, dominant intermediate B
- OMIM:608323 Charcot-Marie-Tooth disease, dominant intermediate C
- OMIM:607791 Charcot-Marie-Tooth disease, dominant intermediate D
- OMIM:614455 Charcot-Marie-Tooth disease, dominant intermediate E
- OMIM:615185 Charcot-Marie-Tooth disease, dominant intermediate F
- OMIM:617882 Charcot-Marie-Tooth disease, dominant intermediate G
- OMIM:608340 Charcot-Marie-Tooth disease, recessive intermediate A
- OMIM:613641 Charcot-marie-tooth disease, recessive intermediate B
- OMIM:615376 Charcot-Marie-Tooth disease, recessive intermediate C
- OMIM:616039 Charcot-Marie-Tooth disease, recessive intermediate D
- OMIM:118200 Charcot-Marie-Tooth disease, type 1B
- OMIM:607736 Charcot-Marie-Tooth disease, type 2J
- OMIM:214400 Charcot-Marie-Tooth disease, type 4A
- OMIM:601382 Charcot-Marie-Tooth disease, type 4B1
- OMIM:604563 Charcot-Marie-Tooth disease, type 4B2
- OMIM:615284 Charcot-Marie-Tooth disease, type 4B3
- OMIM:601596 Charcot-Marie-Tooth disease, type 4C
- OMIM:601455 Charcot-Marie-Tooth disease, type 4D
- OMIM:609311 Charcot-marie-tooth disease, type 4H
- OMIM:611228 Charcot-Marie-Tooth disease, type 4J
- OMIM:300905 Charcot-Marie-Tooth disease, X-linked dominant, 6
- OMIM:302801 Charcot-Marie-Tooth disease, X-linked recessive, 2
- OMIM:302802 Charcot-Marie-Tooth disease, X-linked recessive, 3
- OMIM:311070 Charcot-Marie-Tooth disease, X-linked recessive, 5
- ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- OMIM:302800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- OMIM:302905 Charge-Like syndrome, X-linked
- ORPHA:1406 Charlie M syndrome
- OMIM:214500 Chediak-Higashi syndrome
- OMIM:118420 Chiari malformation type I
- OMIM:207950 Chiari malformation type II
- ORPHA:324625 Chikungunya
- ORPHA:90280 Chilblain lupus
- OMIM:610448 Chilblain lupus 1
- ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- ORPHA:171439 Childhood-onset nemaline myopathy
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:3474 CHIME syndrome
- OMIM:617180 Chitayat syndrome
- ORPHA:137914 Choanal atresia
- ORPHA:173 Cholera
- OMIM:214980 Cholestasis with gallstone, ataxia, and visual disturbance
- OMIM:118610 Chondrocalcinosis due to apatite crystal deposition
- OMIM:215050 Chondrodysplasia calcificans metaphysealis
- OMIM:302950 Chondrodysplasia punctata 1, X-linked recessive
- OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant
- OMIM:118650 Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included
- OMIM:118651 Chondrodysplasia punctata, Tibia-Metacarpal type
- OMIM:614078 Chondrodysplasia with joint dislocations, Gpapp type
- OMIM:300863 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
- OMIM:215045 Chondrodysplasia, Blomstrand type
- OMIM:601376 Chondrodysplasia, lethal, with long bone angulation and mixed bone density
- ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome
- ORPHA:319195 Chondroectodermal dysplasia with night blindness
- OMIM:616368 CHOPS syndrome
- ORPHA:2388 Choreoacanthocytosis
- OMIM:200150 CHOREOACANTHOCYTOSIS
- ORPHA:1433 Choroidal atrophy-alopecia syndrome
- ORPHA:85278 Christianson syndrome
- ORPHA:182 Chromomycosis
- OMIM:612242 Chromosome 10q22.3-q23.2 deletion syndrome
- OMIM:609625 Chromosome 10q26 deletion syndrome
- OMIM:613884 Chromosome 13q14 deletion syndrome
- OMIM:619148 Chromosome 13q33-q34 deletion syndrome
- OMIM:615656 Chromosome 15q11.2 deletion syndrome
- OMIM:612001 Chromosome 15q13.3 microdeletion syndrome
- OMIM:614294 Chromosome 15q25 deletion syndrome
- OMIM:612626 Chromosome 15q26-qter deletion syndrome
- OMIM:613604 Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb
- OMIM:616863 Chromosome 16p13.2 deletion syndrome
- OMIM:610543 Chromosome 16p13.3 deletion syndrome
- OMIM:613458 Chromosome 16p13.3 duplication syndrome
- OMIM:614541 Chromosome 16q22 deletion syndrome
- OMIM:613776 Chromosome 17p13.1 deletion syndrome
- OMIM:612576 Chromosome 17p13.3, telomeric, duplication syndrome
- OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb
- OMIM:618874 Chromosome 17q11.2 duplication syndrome, 1.4-Mb
- OMIM:614527 Chromosome 17q12 deletion syndrome
- OMIM:614526 Chromosome 17Q12 duplication syndrome
- OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome
- OMIM:613618 Chromosome 17q23.1-q23.2 duplication syndrome
- OMIM:146390 Chromosome 18p deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal
- OMIM:617219 Chromosome 19q13.11 deletion syndrome, proximal
- OMIM:607872 Chromosome 1p36 deletion syndrome
- OMIM:619343 Chromosome 1p36 deletion syndrome, proximal
- OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb
- OMIM:612530 Chromosome 1q41-q42 deletion syndrome
- OMIM:614257 Chromosome 20q11-q12 deletion syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:613681 Chromosome 2q31.1 duplication syndrome
- OMIM:185900 Chromosome 2q35 duplication syndrome
- OMIM:600430 Chromosome 2q37 deletion syndrome
- OMIM:613792 Chromosome 3pter-p25 deletion syndrome
- OMIM:609425 Chromosome 3q29 deletion syndrome
- OMIM:611936 Chromosome 3q29 duplication syndrome
- OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome
- OMIM:613174 Chromosome 5p13 duplication syndrome
- OMIM:615668 Chromosome 5q12 deletion syndrome
- OMIM:612582 Chromosome 6pter-p24 deletion syndrome
- OMIM:613544 Chromosome 6q11-q14 deletion syndrome
- OMIM:612863 Chromosome 6q25-q25 deletion syndrome
- OMIM:614230 Chromosome 8q21.11 deletion syndrome
- OMIM:151200 Chromosome 8q22.1 duplication syndrome
- OMIM:158170 Chromosome 9P deletion syndrome
- OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome
- OMIM:301069 Chromosome Xq13 duplication syndrome
- OMIM:300869 Chromosome xq27.3-q28 duplication syndrome
- ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy
- ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- ORPHA:263463 CHST3-related skeletal dysplasia
- ORPHA:435651 CIDEC-related familial partial lipodystrophy
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- ORPHA:69744 Circumscribed palmoplantar hypokeratosis
- ORPHA:247525 Citrullinemia type I
- ORPHA:251383 CK syndrome
- OMIM:300831 Ck syndrome
- ORPHA:168984 CLAPO syndrome
- OMIM:300602 Clark-Baraitser syndrome
- ORPHA:394 Classic homocystinuria
- ORPHA:324604 Classic multiminicore myopathy
- ORPHA:287 Classical Ehlers-Danlos syndrome
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome
- OMIM:216100 Cleft lip/palate with abnormal thumbs and microcephaly
- OMIM:601165 Cleft lip/palate with characteristic facies, intestinal malrotation,and lethal congenital heart disease
- ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome
- ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome
- OMIM:225060 Cleft lip/palate-ectodermal dysplasia syndrome
- ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- OMIM:600460 Cleft palate, cardiac defect, genital anomalies, and ectrodactyly
- OMIM:600987 Cleft palate, cardiac defects, and mental retardation
- OMIM:216300 Cleft palate, deafness, and oligodontia
- OMIM:616728 Cleft palate, psychomotor retardation, and distinctive facial features
- ORPHA:2013 Cleft palate-large ears-small head syndrome
- ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome
- OMIM:215850 Cleft-Limb-Heart malformation syndrome
- ORPHA:1452 Cleidocranial dysplasia
- OMIM:119600 Cleidocranial dysplasia
- ORPHA:1453 Cleidorhizomelic syndrome
- OMIM:119650 Cleidorhizomelic syndrome
- ORPHA:93929 Cloacal exstrophy
- OMIM:129500 Clouston syndrome
- ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome
- OMIM:119800 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
- ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy
- OMIM:216360 Coach syndrome 1
- ORPHA:1911 Cocaine embryofetopathy
- ORPHA:228123 Coccidioidomycosis
- ORPHA:191 Cockayne syndrome
- OMIM:216400 Cockayne syndrome A
- ORPHA:90321 Cockayne syndrome type 1
- ORPHA:90322 Cockayne syndrome type 2
- OMIM:133540 Cockayne syndrome, type B
- ORPHA:1458 CODAS syndrome
- OMIM:600373 CODAS syndrome
- OMIM:612016 Coenzyme Q10 deficiency, primary, 4
- ORPHA:192 Coffin-Lowry syndrome
- OMIM:303600 Coffin-Lowry syndrome
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:135900 Coffin-Siris syndrome 1
- OMIM:618506 Coffin-Siris syndrome 10
- OMIM:618779 Coffin-Siris syndrome 11
- OMIM:619325 Coffin-Siris syndrome 12
- OMIM:614607 Coffin-Siris syndrome 2
- OMIM:614608 Coffin-Siris syndrome 3
- OMIM:614609 Coffin-Siris syndrome 4
- OMIM:616938 Coffin-Siris syndrome 5
- OMIM:617808 Coffin-siris syndrome 6
- OMIM:618027 Coffin-Siris syndrome 7
- OMIM:615866 Coffin-Siris syndrome 9
- ORPHA:1466 COFS syndrome
- ORPHA:263508 COG1-CDG
- ORPHA:263501 COG4-CDG
- ORPHA:263487 COG5-CDG
- ORPHA:79333 COG7-CDG
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:193 Cohen syndrome
- OMIM:216550 Cohen syndrome
- OMIM:617561 Cohen-Gibson syndrome
- OMIM:610313 Cold-Induced sweating syndrome 2
- OMIM:615522 Cole disease
- ORPHA:2050 Cole-Carpenter syndrome
- OMIM:216800 Coloboma of macula and skeletal anomalies
- OMIM:120400 Coloboma of macula with type B brachydactyly
- ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome
- ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies
- ORPHA:319514 Combined oxidative phosphorylation defect type 13
- ORPHA:565624 Combined oxidative phosphorylation defect type 39
- ORPHA:254930 Combined oxidative phosphorylation defect type 7
- OMIM:610498 Combined oxidative phosphorylation deficiency 2
- OMIM:615918 Combined oxidative phosphorylation deficiency 21
- OMIM:617950 Combined oxidative phosphorylation deficiency 36
- OMIM:618851 Combined oxidative phosphorylation deficiency 43
- OMIM:618855 Combined oxidative phosphorylation deficiency 44
- OMIM:618958 Combined oxidative phosphorylation deficiency 47
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:619743 Combined oxidative phosphorylation deficiency 55
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:83452 Complex regional pain syndrome
- ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome
- OMIM:614500 Cone-Rod dystrophy 16
- ORPHA:294975 Congenital absence of upper arm and forearm with hand present
- ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral
- ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- ORPHA:86816 Congenital analbuminemia
- OMIM:611890 Congenital arthrogryposis with anterior horn cell disease
- ORPHA:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome
- OMIM:604168 Congenital cataracts, facial dysmorphism, and neuropathy
- ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome
- ORPHA:115 Congenital contractural arachnodactyly
- OMIM:616266 Congenital contractures of the limbs and face, hypotonia, and developmental delay
- OMIM:615273 Congenital disorder of deglycosylation 1
- OMIM:619775 Congenital disorder of deglycosylation 2
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:619493 Congenital disorder of glycosylation, type 2V
- OMIM:601110 Congenital disorder of glycosylation, type Id
- OMIM:608799 Congenital disorder of glycosylation, type IE
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- OMIM:608104 Congenital disorder of glycosylation, type Ih
- OMIM:212066 Congenital disorder of glycosylation, type IIa
- OMIM:606056 Congenital disorder of glycosylation, type IIB
- OMIM:266265 Congenital disorder of glycosylation, type IIc
- OMIM:608779 Congenital disorder of glycosylation, type IIe
- OMIM:603585 Congenital disorder of glycosylation, type IIf
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM:611182 Congenital disorder of glycosylation, type IIh
- OMIM:614727 Congenital disorder of glycosylation, type IIK
- OMIM:614576 Congenital disorder of glycosylation, type IIl
- OMIM:618885 Congenital disorder of glycosylation, type IIt
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- OMIM:608093 Congenital disorder of glycosylation, type Ij
- OMIM:608776 Congenital disorder of glycosylation, type Il
- OMIM:612015 Congenital disorder of glycosylation, type IN
- OMIM:300934 Congenital disorder of glycosylation, type Iy
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:528 Congenital generalized lipodystrophy
- ORPHA:99095 Congenital Gerbode defect
- OMIM:617364 Congenital heart defects and ectodermal dysplasia
- OMIM:617602 Congenital heart defects and skeletal malformations syndrome
- OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- OMIM:217085 Congenital heart defects, hamartomas of tongue, and polysyndactyly
- OMIM:619657 Congenital heart defects, multiple types, 8, with or without heterotaxy
- OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability
- OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation
- ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement
- ORPHA:370968 Congenital muscular dystrophy with intellectual disability
- ORPHA:370980 Congenital muscular dystrophy without intellectual disability
- ORPHA:272 Congenital muscular dystrophy, Fukuyama type
- ORPHA:75840 Congenital muscular dystrophy, Ullrich type
- ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:590 Congenital myasthenic syndrome
- ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect
- ORPHA:424107 Congenital myopathy with myasthenic-like onset
- ORPHA:168486 Congenital neuronal ceroid lipofuscinosis
- ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma
- ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- ORPHA:295036 Congenital patella dislocation
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:3269 Congenital radioulnar synostosis
- ORPHA:290 Congenital rubella syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:291 Congenital varicella syndrome
- ORPHA:178382 Congenital vertical talus
- ORPHA:420794 Cono-spondylar dysplasia
- OMIM:217095 Conotruncal heart malformations
- OMIM:217100 Constricting bands, congenital
- OMIM:121050 Contractural arachnodactyly, congenital
- OMIM:178110 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A
- OMIM:618469 Contractures, pterygia, and variable skeletal fusions syndrome 1B
- ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome
- ORPHA:1487 Cooks syndrome
- ORPHA:1488 Cooper-Jabs syndrome
- ORPHA:199 Cornelia de Lange syndrome
- OMIM:122470 Cornelia de Lange syndrome 1
- OMIM:300590 Cornelia de Lange syndrome 2
- OMIM:610759 Cornelia de Lange syndrome 3
- OMIM:614701 Cornelia de Lange syndrome 4
- OMIM:300882 Cornelia de Lange syndrome 5
- ORPHA:3194 Corneodermatoosseous syndrome
- OMIM:122440 Corneodermatoosseous syndrome
- ORPHA:2041 Coronary arterial fistula
- OMIM:217990 Corpus callosum, agenesis of
- OMIM:300004 Corpus callosum, agenesis of, with abnormal genitalia
- OMIM:217980 Corpus callosum, agenesis of, with facial anomalies and Robin sequence
- ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome
- OMIM:604922 Cortical defects, wormian bones, and dentinogenesis imperfecta
- ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2
- OMIM:218040 Costello syndrome
- ORPHA:3071 Costello syndrome
- OMIM:122580 Costocoracoid ligament, congenitally short
- OMIM:260660 Cousin syndrome
- ORPHA:201 Cowden syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:615108 Cowden syndrome 5
- OMIM:615109 Cowden syndrome 6
- OMIM:122750 Coxa vara
- OMIM:122780 Coxoauricular syndrome
- ORPHA:1508 Coxoauricular syndrome
- ORPHA:1509 Coxopodopatellar syndrome
- ORPHA:1512 Crane-Heise syndrome
- ORPHA:1525 Cranio-osteoarthropathy
- OMIM:122850 Cranioacrofacial syndrome
- ORPHA:1513 Craniodiaphyseal dysplasia
- OMIM:122860 Craniodiaphyseal dysplasia, autosomal dominant
- ORPHA:1514 Craniodigital-intellectual disability syndrome
- ORPHA:1515 Cranioectodermal dysplasia
- OMIM:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:614099 Cranioectodermal dysplasia 3
- OMIM:614378 Cranioectodermal dysplasia 4
- ORPHA:85168 Craniofacial conodysplasia
- OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- OMIM:122900 Craniofacial dysostosis with diaphyseal hyperplasia
- ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- OMIM:122880 Craniofacial-Deafness-Hand syndrome
- ORPHA:1529 Craniofacial-deafness-hand syndrome
- OMIM:114620 Craniofaciofrontodigital syndrome
- ORPHA:363705 Craniofaciofrontodigital syndrome
- OMIM:300712 Craniofacioskeletal syndrome
- ORPHA:1520 Craniofrontonasal dysplasia
- ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome
- OMIM:304110 Craniofrontonasal syndrome
- ORPHA:50814 Craniolenticulosutural dysplasia
- OMIM:607812 Craniolenticulosutural dysplasia
- OMIM:269300 Craniometadiaphyseal dysplasia
- ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type
- ORPHA:1522 Craniometaphyseal dysplasia
- OMIM:123000 Craniometaphyseal dysplasia, autosomal dominant
- OMIM:218400 Craniometaphyseal dysplasia, autosomal recessive
- ORPHA:63260 Craniorachischisis
- OMIM:604757 Craniosynostosis 2
- OMIM:615314 Craniosynostosis 3
- OMIM:614188 Craniosynostosis and dental anomalies
- OMIM:218530 Craniosynostosis with anomalies of the cranial base and digits
- OMIM:218550 Craniosynostosis with fibular aplasia
- OMIM:614416 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
- OMIM:600593 Craniosynostosis, Adelaide type
- ORPHA:2145 Craniosynostosis, Herrmann-Opitz type
- ORPHA:1527 Craniosynostosis, Philadelphia type
- ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- OMIM:218650 Craniosynostosis-Mental retardation-clefting syndrome
- OMIM:619727 Craniotubular dysplasia, Ikegawa type
- OMIM:606851 Cree mental retardation syndrome
- OMIM:123450 Cri-Du-Chat syndrome
- ORPHA:1545 Crisponi syndrome
- OMIM:272430 Crisponi/cold-induced sweating syndrome 1
- ORPHA:2930 Cronkhite-Canada syndrome
- ORPHA:2935 Crossed polysyndactyly
- ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome
- ORPHA:1546 Cryptococcosis
- OMIM:123560 Cryptomicrotia-Brachydactyly syndrome
- ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- OMIM:300471 Cubitus valgus with mental retardation and unusual facies
- OMIM:615849 Culler-Jones syndrome
- ORPHA:1552 Currarino syndrome
- OMIM:601707 Curry-Jones syndrome
- ORPHA:1553 Curry-Jones syndrome
- OMIM:219070 Curved nail of fourth toe
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia
- ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- OMIM:616603 Cutis laxa, autosomal dominant 3
- OMIM:219100 Cutis laxa, autosomal recessive, type IA
- OMIM:614437 Cutis laxa, autosomal recessive, type IB
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- OMIM:219200 Cutis laxa, autosomal recessive, type IIA
- OMIM:612940 Cutis laxa, autosomal recessive, type IIB
- OMIM:617402 Cutis laxa, autosomal recessive, type IIC
- OMIM:617403 Cutis laxa, autosomal recessive, type IID
- OMIM:619451 Cutis laxa, autosomal recessive, type IIE
- OMIM:219150 Cutis laxa, autosomal recessive, type IIIA
- OMIM:614438 Cutis laxa, autosomal recessive, type IIIB
- OMIM:614100 Cutis laxa, neonatal, with marfanoid phenotype
- ORPHA:171719 Cutis laxa-Marfanoid syndrome
- OMIM:219250 Cutis marmorata telangiectatica congenita
- ORPHA:1556 Cutis marmorata telangiectatica congenita
- ORPHA:306692 Cyanide-induced parkinsonism-dystonia
- OMIM:219400 Cyanosis and hepatic disease
- ORPHA:212 Cystathioninuria
- OMIM:219700 Cystic fibrosis
- OMIM:219800 Cystinosis, nephropathic
- OMIM:609162 Czech dysplasia, Metatarsal type
- ORPHA:2437 Czeizel-Losonci syndrome
Code pathologie
Nom de la pathologie
- OMIM:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:1563 Dahlberg-Borer-Newcomer syndrome
- OMIM:220220 Dandy-Walker malformation with postaxial polydactyly
- ORPHA:1566 Dandy-Walker malformation-postaxial polydactyly syndrome
- OMIM:300257 Danon disease
- ORPHA:218 Darier disease
- OMIM:124200 Darier-White disease
- ORPHA:2962 De Barsy syndrome
- OMIM:278800 De Sanctis-Cacchione syndrome
- OMIM:221320 Deafness, conductive, with ptosis and skeletal anomalies
- OMIM:124480 Deafness, congenital, and onychodystrophy, autosomal dominant
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome
- ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome
- OMIM:619004 Deeah syndrome
- OMIM:619488 DEGCAGS syndrome
- ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning
- OMIM:619083 Delpire-Mcneill syndrome
- ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
- ORPHA:79134 DEND syndrome
- ORPHA:1652 Dent disease
- OMIM:300009 Dent disease 1
- ORPHA:1077 Dental ankylosis
- ORPHA:49042 Dentinogenesis imperfecta
- OMIM:221790 DERMATOLEUKODYSTROPHY
- OMIM:221810 Dermatoosteolysis, Kirghizian type
- ORPHA:1657 Dermatoosteolysis, Kirghizian type
- OMIM:125595 Dermatopathia pigmentosa reticularis
- ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome
- OMIM:221800 Dermochondrocorneal dystrophy
- ORPHA:79149 Dermochondrocorneal dystrophy
- OMIM:251450 Desbuquois dysplasia 1
- OMIM:615777 Desbuquois dysplasia 2
- ORPHA:1425 Desbuquois syndrome
- ORPHA:98909 Desminopathy
- ORPHA:35107 Desmosterolosis
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:619777 Developmental and epileptic encephalopathy 100
- OMIM:620028 Developmental and epileptic encephalopathy 106
- OMIM:300672 Developmental and epileptic encephalopathy 2
- OMIM:617276 Developmental and epileptic encephalopathy 48
- OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects
- OMIM:619124 Developmental and epileptic encephalopathy 89
- OMIM:301058 Developmental and epileptic encephalopathy 90
- OMIM:617711 Developmental and epileptic encephalopathy 91
- ORPHA:313892 Developmental and speech delay due to SOX5 deficiency
- OMIM:618454 Developmental delay with or without dysmorphic facies and autism
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:620062 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
- OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities
- OMIM:619694 Developmental delay with variable neurologic and brain abnormalities
- OMIM:619090 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:617991 Developmental delay, intellectual disability, obesity, and dysmorphic features
- OMIM:620141 Developmental delay, language impairment, and ocular abnormalities
- ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- OMIM:142700 Developmental dysplasia of the hip 1
- OMIM:615612 Developmental dysplasia of the hip 2
- ORPHA:79107 Developmental malformations-deafness-dystonia syndrome
- ORPHA:1666 Dextrocardia
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:614900 Diamond-Blackfan anemia 11
- OMIM:615550 Diamond-Blackfan anemia 12
- OMIM:618313 Diamond-Blackfan anemia 20
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:612561 Diamond-Blackfan anemia 6
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:608022 Diaphanospondylodysostosis
- ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome
- OMIM:601163 Diaphragmatic defects, limb deficiencies, and ossification defects of skull
- OMIM:620025 Diaphragmatic hernia 4, with cardiovascular defects
- OMIM:112250 Diaphyseal medullary stenosis with malignant fibrous histiocytoma
- ORPHA:628 Diastrophic dysplasia
- OMIM:222600 Diastrophic dysplasia
- ORPHA:1672 Diencephalic syndrome
- ORPHA:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome
- OMIM:188400 Digeorge syndrome
- OMIM:606835 Digital arthropathy-brachydactyly, familial
- OMIM:119900 Digital clubbing, isolated congenital
- ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy
- OMIM:126050 Digitotalar dysmorphism
- ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency
- OMIM:222748 Dihydropyrimidinuria
- ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- ORPHA:227 Diphallia
- ORPHA:2412 Dislocation of the hip-dysmorphism syndrome
- ORPHA:2983 Disorder of sex development-intellectual disability syndrome
- OMIM:223200 Disorganization, mouse, homolog of
- OMIM:126190 Disproportionate short stature with ptosis and valvular heart lesions
- ORPHA:261222 Distal 16p11.2 microdeletion syndrome
- ORPHA:319171 Distal 17p13.1 microdeletion syndrome
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:261337 Distal 22q11.2 microduplication syndrome
- ORPHA:399096 Distal anoctaminopathy
- ORPHA:1146 Distal arthrogryposis type 1
- ORPHA:139536 Distal hereditary motor neuropathy type 5
- ORPHA:1307 Distal limb deficiencies-micrognathia syndrome
- ORPHA:1580 Distal monosomy 10p
- ORPHA:96148 Distal monosomy 10q
- ORPHA:96149 Distal monosomy 12q
- ORPHA:1590 Distal monosomy 13q
- ORPHA:1596 Distal monosomy 15q
- ORPHA:1597 Distal monosomy 17q
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:1620 Distal monosomy 3p
- ORPHA:96125 Distal monosomy 6p
- ORPHA:1636 Distal monosomy 7q36
- ORPHA:1642 Distal monosomy 9p
- ORPHA:178400 Distal myopathy with anterior tibial onset
- ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement
- ORPHA:488650 Distal myopathy, Tateyama type
- ORPHA:603 Distal myopathy, Welander type
- ORPHA:399103 Distal nebulin myopathy
- OMIM:126250 Distal osteosclerosis
- ORPHA:3248 Distal symphalangism
- ORPHA:314588 Distal tetrasomy 15q
- ORPHA:1707 Distal trisomy 15q
- ORPHA:3379 Distal trisomy 17q
- ORPHA:1716 Distal trisomy 18q
- ORPHA:96097 Distal trisomy 5q
- ORPHA:293939 Distal Xq28 microduplication syndrome
- OMIM:126320 Distichiasis with congenital anomalies of the heart and peripheral
- OMIM:223340 Dk phocomelia syndrome
- ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome
- ORPHA:231226 Dominant beta-thalassemia
- OMIM:246200 Donohue syndrome
- OMIM:220500 Doors syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency
- ORPHA:79145 Dowling-Degos disease
- OMIM:615674 Dowling-Degos disease 3
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:263494 DPM3-CDG
- ORPHA:33069 Dravet syndrome
- ORPHA:233 Duane retraction syndrome
- OMIM:607323 Duane-Radial ray syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- OMIM:310200 Duchenne muscular dystrophy
- ORPHA:98896 Duchenne muscular dystrophy
- ORPHA:314621 Duplication of the pituitary gland
- OMIM:126900 Dupuytren contracture 1
- OMIM:127200 Dwarfism with stiff joints and ocular abnormalities
- OMIM:126950 Dwarfism with tall vertebrae
- OMIM:223550 Dwarfism, proportionate, with hip dislocation
- OMIM:223800 Dyggve-Melchior-Clausen disease
- ORPHA:239 Dyggve-Melchior-Clausen disease
- OMIM:304950 Dyggve-Melchior-Clausen syndrome, X-linked
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- OMIM:127350 Dyschondrosteosis and nephritis
- ORPHA:1765 Dyschondrosteosis-nephritis syndrome
- ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613989 Dyskeratosis congenita, autosomal dominant 2
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- OMIM:224230 Dyskeratosis congenita, autosomal recessive 1
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:606703 Dyskinesia, familial, with facial myokymia
- ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome
- ORPHA:1782 Dysosteosclerosis
- OMIM:224300 DYSOSTEOSCLEROSIS
- OMIM:619345 Dysostosis multiplex, Ain-Naz type
- ORPHA:1798 Dysostosis, Stanescu type
- ORPHA:1822 Dysplasia epiphysealis hemimelica
- ORPHA:168621 Dysplasia of head of femur, Meyer type
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome
- OMIM:224400 Dyssegmental dysplasia, Rolland-Desbuquois type
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
- ORPHA:85198 Dysspondyloenchondromatosis
- OMIM:128000 DYSTELEPHALANGY
- OMIM:128100 Dystonia 1, torsion, autosomal dominant
- ORPHA:589618 Dystonia 28
- OMIM:619687 Dystonia 33
- OMIM:128230 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
- OMIM:619681 Dystonia, early-onset, and/or spastic paraplegia
- OMIM:607371 Dystonia, juvenile-onset
- ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome
- ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa
Code pathologie
Nom de la pathologie
- ORPHA:2554 Ear-patella-short stature syndrome
- ORPHA:1934 Early infantile epileptic encephalopathy
- ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes
- ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- ORPHA:199343 EAST syndrome
- OMIM:618535 Ectodermal dysplasia 15, Hypohidrotic/hair type
- OMIM:224800 Ectodermal dysplasia and neurosensory deafness
- OMIM:618727 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic
- OMIM:600906 Ectodermal dysplasia with mental retardation and syndactyly
- OMIM:225280 Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
- OMIM:609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome
- ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome
- OMIM:613573 Ectodermal dysplasia-syndactyly syndrome 1
- OMIM:613576 Ectodermal dysplasia-syndactyly syndrome 2
- OMIM:604536 Ectodermal dysplasia/skin fragility syndrome
- OMIM:129810 Ectrodactyly and ectodermal dysplasia without cleft lip/palate
- OMIM:604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
- OMIM:129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1
- OMIM:129830 Ectrodactyly-Cleft palate syndrome
- OMIM:225290 ECTRODACTYLY-POLYDACTYLY
- ORPHA:1892 Ectrodactyly-polydactyly syndrome
- ORPHA:1895 Edinburgh malformation syndrome
- ORPHA:1896 EEC syndrome
- ORPHA:1897 EEM syndrome
- OMIM:130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
- OMIM:617821 Ehlers-Danlos syndrome, arthrochalasia type, 2
- OMIM:225320 Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
- OMIM:608763 Ehlers-danlos syndrome, Beasley-Cohen type
- OMIM:130010 Ehlers-Danlos syndrome, classic type, 2
- OMIM:618000 Ehlers-Danlos syndrome, classic-like, 2
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- OMIM:601776 Ehlers-Danlos syndrome, musculocontractural type 1
- OMIM:615539 Ehlers-Danlos syndrome, musculocontractural type, 2
- OMIM:130080 Ehlers-Danlos syndrome, periodontal type, 1
- OMIM:130070 Ehlers-Danlos syndrome, spondylodysplastic type, 1
- OMIM:615349 Ehlers-Danlos syndrome, spondylodysplastic type, 2
- OMIM:612350 Ehlers-Danlos syndrome, spondylodysplastic type, 3
- OMIM:130000 Ehlers-danlos syndrome, type I
- OMIM:225410 Ehlers-Danlos syndrome, type VII, autosomal recessive
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- OMIM:600002 Eiken syndrome
- ORPHA:79106 Eiken syndrome
- ORPHA:97214 Eisenmenger syndrome
- ORPHA:289 Ellis Van Creveld syndrome
- OMIM:225500 Ellis-Van creveld syndrome
- OMIM:211380 Elsahy-Waters syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- ORPHA:261 Emery-Dreifuss muscular dystrophy
- OMIM:310300 Emery-Dreifuss muscular dystrophy 1, X-linked
- OMIM:181350 Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- OMIM:616516 Emery-Dreifuss muscular dystrophy 3, autosomal recessive
- ORPHA:1927 Emery-Nelson syndrome
- ORPHA:83600 Encephalitis lethargica
- OMIM:614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
- OMIM:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1
- OMIM:617207 Encephalopathy, progressive, with amyotrophy and optic atrophy
- ORPHA:2022 Endocardial fibroelastosis
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- ORPHA:2790 Endosteal hyperostosis, Worth type
- OMIM:619218 ENDOVE syndrome, limb-brain type
- OMIM:619217 Endove syndrome, Limb-Only type
- ORPHA:1937 Eng-Strom syndrome
- ORPHA:60015 Enlarged parietal foramina
- ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis
- ORPHA:35125 Epidermal nevus syndrome
- OMIM:618267 Epidermodysplasia verruciformis, susceptibility to, 3
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- OMIM:131900 Epidermolysis bullosa simplex 1B, generalized intermediate
- OMIM:619555 Epidermolysis bullosa simplex 2A, generalized severe
- OMIM:619588 Epidermolysis bullosa simplex 2B, generalized intermediate
- OMIM:619594 Epidermolysis bullosa simplex 2C, localized
- OMIM:619599 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive
- ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema
- OMIM:131960 Epidermolysis bullosa simplex with mottled pigmentation
- ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation
- OMIM:226670 Epidermolysis bullosa simplex with muscular dystrophy
- OMIM:616487 Epidermolysis bullosa simplex with nail dystrophy
- OMIM:615425 Epidermolysis bullosa simplex, autosomal recessive 2
- OMIM:131760 Epidermolysis bullosa simplex, Dowling-Meara type
- OMIM:617294 Epidermolysis bullosa simplex, generalized, with scarring and hair loss
- OMIM:131800 Epidermolysis bullosa simplex, Weber-Cockayne type
- OMIM:226735 Epidermolysis bullosa with diaphragmatic hernia
- OMIM:226700 Epidermolysis bullosa, junctional, Herlitz type
- OMIM:226650 Epidermolysis bullosa, junctional, Non-Herlitz type
- OMIM:609638 Epidermolysis bullosa, lethal acantholytic
- OMIM:113800 Epidermolytic hyperkeratosis
- ORPHA:2199 Epidermolytic palmoplantar keratoderma
- OMIM:245570 Epilepsy, focal, with speech disorder and with or without mental retardation
- OMIM:614018 Epilepsy, progressive myoclonic, 6
- OMIM:616540 Epilepsy, progressive myoclonic, 9
- OMIM:301091 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- OMIM:615833 Epileptic encephalopathy, early infantile, 21
- OMIM:616339 Epileptic encephalopathy, early infantile, 29
- OMIM:300884 Epileptic encephalopathy, early infantile, 36
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:617162 Epileptic encephalopathy, early infantile, 46
- OMIM:617599 Epileptic encephalopathy, early infantile, 55
- OMIM:617976 Epileptic encephalopathy, early infantile, 63
- OMIM:618004 Epileptic encephalopathy, early infantile, 64
- OMIM:618067 Epileptic encephalopathy, early infantile, 66
- OMIM:618548 Epileptic encephalopathy, early infantile, 77
- OMIM:618580 Epileptic encephalopathy, early infantile, 80
- OMIM:618744 Epileptic encephalopathy, early infantile, 83
- OMIM:618916 Epileptic encephalopathy, early infantile, 87
- OMIM:615923 Epiphyseal chondrodysplasia, Miura type
- OMIM:226950 Epiphyseal dysplasia of femoral head, myopia, and deafness
- OMIM:610797 Epiphyseal dysplasia, Baumann type
- OMIM:132400 Epiphyseal dysplasia, multiple, 1
- OMIM:600204 Epiphyseal dysplasia, multiple, 2
- OMIM:600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy
- OMIM:226900 Epiphyseal dysplasia, multiple, 4
- OMIM:607078 Epiphyseal dysplasia, multiple, 5
- OMIM:614135 Epiphyseal dysplasia, multiple, 6
- OMIM:617719 Epiphyseal dysplasia, multiple, 7
- OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
- OMIM:609325 Epiphyseal dysplasia, multiple, with miniepiphyses
- OMIM:132450 Epiphyseal dysplasia, multiple, with myopia and conductive deafness
- OMIM:609324 Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia
- ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome
- ORPHA:37612 Episodic ataxia type 1
- OMIM:160120 Episodic ataxia, type 1
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:999 Ermine phenotype
- OMIM:227000 Erythema of acral regions
- OMIM:615508 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
- OMIM:609165 Erythroderma, ichthyosiform, congenital reticular
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:133200 Erythrokeratodermia variabilis et progressiva 1
- OMIM:617524 Erythrokeratodermia variabilis et progressiva 2
- OMIM:617525 Erythrokeratodermia variabilis et progressiva 3
- OMIM:617526 Erythrokeratodermia variabilis et progressiva 4
- OMIM:617756 Erythrokeratodermia variabilis et progressiva 5
- OMIM:619209 Erythrokeratodermia variabilis et progressiva 7
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- OMIM:616854 Even-Plus syndrome
- OMIM:133690 Exostoses with anetodermia and brachydactyly, type E
- OMIM:133700 Exostoses, multiple, type I
- OMIM:133701 Exostoses, multiple, type II
- ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome
- ORPHA:3294 Extensor tendons of finger anomalies
- ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome
- OMIM:133705 External auditory canal, bilateral atresia of, with congenital verticaltalus
- ORPHA:494424 Extracranial carotid artery aneurysm
- ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:600251 Facial clefting, oblique, 1
- OMIM:618381 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- OMIM:601552 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
- ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome
- OMIM:227270 Faciocardiomelic dysplasia, lethal
- OMIM:612731 Faciocardiomelic syndrome
- OMIM:227280 Faciocardiorenal syndrome
- OMIM:227330 Faciodigitogenital syndrome, autosomal recessive
- OMIM:158900 Facioscapulohumeral muscular dystrophy 1
- OMIM:158901 Facioscapulohumeral muscular dystrophy 2
- OMIM:619477 Facioscapulohumeral muscular dystrophy 3, digenic
- OMIM:619478 Facioscapulohumeral muscular dystrophy 4, digenic
- ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- ORPHA:228277 Familial anetoderma
- ORPHA:2295 Familial articular hypermobility syndrome
- ORPHA:615 Familial atrial myxoma
- ORPHA:86820 Familial avascular necrosis of femoral head
- ORPHA:1551 Familial benign copper deficiency
- ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication
- ORPHA:85169 Familial digital arthropathy-brachydactyly
- ORPHA:324588 Familial dyskinesia and facial myokymia
- OMIM:174810 Familial expansile osteolysis
- ORPHA:225154 Familial infantile bilateral striatal necrosis
- ORPHA:154 Familial isolated dilated cardiomyopathy
- ORPHA:342 Familial Mediterranean fever
- ORPHA:199276 Familial multiple lipomatosis
- ORPHA:624 Familial multiple nevi flammei
- ORPHA:569 Familial or sporadic hemiplegic migraine
- ORPHA:2769 Familial osteodysplasia, Anderson type
- ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:95716 Familial thyroid dyshormonogenesis
- ORPHA:2604 Familial visceral myopathy
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:227645 Fanconi anemia, complementation group C
- OMIM:605724 Fanconi anemia, complementation group D1
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:600901 Fanconi anemia, complementation group E
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:614082 Fanconi anemia, complementation group G
- OMIM:609053 Fanconi anemia, complementation group I
- OMIM:609054 Fanconi anemia, complementation group J
- OMIM:614083 Fanconi anemia, complementation group L
- OMIM:610832 Fanconi anemia, complementation group N
- OMIM:613390 Fanconi anemia, complementation group O
- OMIM:613951 Fanconi anemia, complementation group P
- OMIM:615272 Fanconi anemia, complementation group Q
- OMIM:617883 Fanconi anemia, complementation group S
- OMIM:616435 Fanconi anemia, complementation group T
- OMIM:617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U
- OMIM:617784 Fanconi anemia, complementation group W
- OMIM:615605 Fanconi renotubular syndrome 3
- OMIM:618913 Fanconi renotubular syndrome 5
- ORPHA:2088 Fanconi-Bickel syndrome
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:2492 FATCO syndrome
- OMIM:619376 Faundes-Banka syndrome
- ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- ORPHA:1305 Feingold syndrome
- OMIM:164280 Feingold syndrome 1
- OMIM:614326 Feingold syndrome 2
- ORPHA:391641 Feingold syndrome type 1
- ORPHA:391646 Feingold syndrome type 2
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- OMIM:228250 Femur, unilateral bifid, with monodactylous ectrodactyly
- ORPHA:2019 Femur-fibula-ulna complex
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- OMIM:618389 Fetal akinesia deformation sequence 3
- OMIM:618393 Fetal akinesia deformation sequence 4
- OMIM:613630 Fetal encasement syndrome
- ORPHA:1912 Fetal hydantoin syndrome
- ORPHA:1918 Fetal minoxidil syndrome
- ORPHA:1913 Fetal trimethadione syndrome
- OMIM:300321 Fg syndrome 2
- ORPHA:93932 FG syndrome type 1
- ORPHA:313855 FGFR2-related bent bone dysplasia
- ORPHA:2021 Fibrochondrogenesis
- OMIM:228520 Fibrochondrogenesis 1
- OMIM:614524 Fibrochondrogenesis 2
- ORPHA:337 Fibrodysplasia ossificans progressiva
- OMIM:135100 Fibrodysplasia ossificans progressiva
- OMIM:619329 Fibromuscular dysplasia, multifocal
- ORPHA:84090 Fibronectin glomerulopathy
- OMIM:228800 Fibrosclerosis, multifocal
- OMIM:600638 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement
- ORPHA:249 Fibrous dysplasia of bone
- OMIM:135800 Fibula, recurrent dislocation of head of
- OMIM:228930 Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
- OMIM:246570 Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
- ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome
- ORPHA:1118 Fibular aplasia-ectrodactyly syndrome
- ORPHA:1757 Fibular dimelia-diplopodia syndrome
- ORPHA:93323 Fibular hemimelia
- OMIM:228900 Fibular hypoplasia and complex brachydactyly
- ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome
- OMIM:228940 Fibuloulnar aplasia or hypoplasia with renal abnormalities
- OMIM:272440 Filippi syndrome
- ORPHA:3255 Filippi syndrome
- OMIM:136000 Fingerprints, absence of
- ORPHA:399086 Finnish upper limb-onset distal myopathy
- ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9
- ORPHA:1968 Flat face-microstomia-ear anomaly syndrome
- ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- ORPHA:2200 Focal palmoplantar and gingival keratoderma
- OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- ORPHA:79093 Foix-Alajouanine syndrome
- ORPHA:2048 Foix-Chavany-Marie syndrome
- OMIM:612289 Fontaine progeroid syndrome
- OMIM:229120 Fountain syndrome
- ORPHA:3219 Fountain syndrome
- ORPHA:137834 Frank-Ter Haar syndrome
- OMIM:249420 Frank-ter Haar syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- OMIM:617666 Fraser syndrome 2
- OMIM:617667 Fraser syndrome 3
- OMIM:229230 Fraser-Like syndrome
- ORPHA:834 Free sialic acid storage disease
- ORPHA:2053 Freeman-Sheldon syndrome
- ORPHA:1826 Frontometaphyseal dysplasia
- OMIM:305620 Frontometaphyseal dysplasia
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:136760 Frontonasal dysplasia 1
- ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- ORPHA:391474 Frontorhiny
- OMIM:619141 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
- OMIM:613954 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
- OMIM:229850 Fryns syndrome
- ORPHA:2059 Fryns syndrome
- ORPHA:2058 Fryns-Smeets-Thiry syndrome
- OMIM:230000 FUCOSIDOSIS
- ORPHA:637 Full NF2-related schwannomatosis
Code pathologie
Nom de la pathologie
- OMIM:617557 Gabriele-De vries syndrome
- ORPHA:506358 Gabriele-de Vries syndrome
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:619609 Galloway-Mowat syndrome 10
- OMIM:301006 Galloway-Mowat syndrome 2, X-linked
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:617730 Galloway-Mowat syndrome 4
- OMIM:618347 Galloway-Mowat syndrome 6
- OMIM:618348 Galloway-Mowat syndrome 7
- ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- ORPHA:2067 GAPO syndrome
- OMIM:619708 Gastrointestinal defects and immunodeficiency syndrome 2
- OMIM:606764 Gastrointestinal stromal tumor
- ORPHA:77259 Gaucher disease type 1
- OMIM:610539 Gaucher disease, atypical
- OMIM:230800 Gaucher disease, type I
- OMIM:231005 Gaucher disease, type IIIC
- ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- OMIM:231050 Geleophysic dysplasia 1
- OMIM:614185 Geleophysic dysplasia 2
- OMIM:617809 Geleophysic dysplasia 3
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:36387 Generalized epilepsy with febrile seizures-plus
- ORPHA:99845 Genetic recurrent myoglobinuria
- ORPHA:2075 Genitopalatocardiac syndrome
- ORPHA:85201 Genitopatellar syndrome
- OMIM:606170 Genitopatellar syndrome
- OMIM:618820 Genitourinary and/or/brain malformation syndrome
- OMIM:137360 GENOCHONDROMATOSIS
- ORPHA:85197 Genochondromatosis type 1
- OMIM:137370 Genu valgum, st. helena familial
- ORPHA:2077 German syndrome
- ORPHA:2078 Geroderma osteodysplastica
- OMIM:231070 Geroderma osteodysplasticum
- OMIM:137440 Gerstmann-Straussler disease
- ORPHA:356 Gerstmann-Straussler-Scheinker syndrome
- OMIM:231095 Ghosal hematodiaphyseal dysplasia
- ORPHA:1802 Ghosal hematodiaphyseal dysplasia
- OMIM:612917 Giacheti syndrome
- ORPHA:643 Giant axonal neuropathy
- OMIM:256850 Giant axonal neuropathy 1, autosomal recessive
- OMIM:610100 Giant axonal neuropathy, autosomal dominant
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:568051 GJC2-related late-onset primary lymphedema
- OMIM:612313 Glass syndrome
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome
- ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- ORPHA:83454 Glomuvenous malformation
- OMIM:610015 Glutamine deficiency, congenital
- OMIM:617301 Glycine encephalopathy with normal serum glycine
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency
- ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency
- OMIM:232300 Glycogen storage disease II
- ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- OMIM:618010 Glycosylphosphatidylinositol biosynthesis defect 17
- OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18
- OMIM:619985 Glycosylphosphatidylinositol biosynthesis defect 25
- ORPHA:354 GM1 gangliosidosis
- ORPHA:79255 GM1 gangliosidosis type 1
- OMIM:230600 GM1-gangliosidosis, type II
- OMIM:230650 GM1-gangliosidosis, type III
- ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19
- OMIM:138770 Gms syndrome
- OMIM:166260 Gnathodiaphyseal dysplasia
- ORPHA:53697 Gnathodiaphyseal dysplasia
- ORPHA:602 GNE myopathy
- OMIM:138790 Goiter, multinodular, cystic renal disease, and digital anomalies
- ORPHA:66629 Goldberg-Shprintzen megacolon syndrome
- OMIM:609460 Goldberg-Shprintzen syndrome
- ORPHA:1986 Gollop-Wolfgang complex
- OMIM:233270 Gombo syndrome
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- ORPHA:376 Gordon syndrome
- ORPHA:73 Gorham-Stout disease
- ORPHA:377 Gorlin syndrome
- ORPHA:2095 Gorlin-Chaudhry-Moss syndrome
- OMIM:300323 Gout, hprt-related
- OMIM:602361 Gracile bone dysplasia
- ORPHA:39812 Graft versus host disease
- OMIM:602531 Grange syndrome
- ORPHA:79094 Grange syndrome
- OMIM:138930 Grant syndrome
- ORPHA:2097 Grant syndrome
- ORPHA:1426 Greenberg dysplasia
- OMIM:215140 Greenberg skeletal dysplasia
- OMIM:175700 Greig cephalopolysyndactyly syndrome
- ORPHA:380 Greig cephalopolysyndactyly syndrome
- ORPHA:97261 GRFoma
- ORPHA:381 Griscelli syndrome
- ORPHA:73273 Growth delay due to insulin-like growth factor I resistance
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
- OMIM:612938 Growth retardation, developmental delay, coarse facies, and earlydeath
- ORPHA:2101 Grubben-de Cock-Borghgraef syndrome
- OMIM:601187 Gurrieri syndrome
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- OMIM:245010 Haim-Munk syndrome
- OMIM:234250 Hall-Riggs mental retardation syndrome
- ORPHA:2107 Hall-Riggs syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:234280 Hallux varus and preaxial polysyndactyly
- ORPHA:2110 Hallux varus-preaxial polysyndactyly syndrome
- OMIM:611174 Hamamy syndrome
- ORPHA:93946 Hamel cerebro-palato-cardiac syndrome
- OMIM:139750 Hand and foot deformity with flat facies
- OMIM:607850 Hand osteoarthritis
- ORPHA:2438 Hand-foot-genital syndrome
- OMIM:140000 Hand-Foot-Genital syndrome
- OMIM:617183 Harel-Yoon syndrome
- ORPHA:457 Harlequin ichthyosis
- OMIM:601095 Harrod syndrome
- ORPHA:2115 Harrod syndrome
- ORPHA:2117 Hartsfield syndrome
- OMIM:615465 Hartsfield syndrome
- OMIM:616920 Heart and brain malformation syndrome
- ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome
- ORPHA:1354 Heart defects-limb shortening syndrome
- ORPHA:1350 Heart-hand syndrome type 2
- OMIM:610140 Heart-hand syndrome, Slovenian type
- ORPHA:168796 Heart-hand syndrome, Slovenian type
- OMIM:140450 Heart-hand syndrome, Spanish type
- OMIM:616617 Heimler syndrome 2
- OMIM:615873 Helsmoortel-van der Aa syndrome
- ORPHA:252054 Hemangioblastoma
- ORPHA:306741 Hemidystonia-hemiatrophy syndrome
- OMIM:164210 Hemifacial microsomia
- OMIM:141400 Hemifacial microsomia with radial defects
- OMIM:235000 Hemihyperplasia, isolated
- ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome
- ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome
- OMIM:612300 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
- OMIM:619641 Hengel-Maroofian-Schols syndrome
- OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome
- OMIM:616006 Hennekam lymphangiectasia-lymphedema syndrome 2
- ORPHA:2136 Hennekam syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:1867 Hereditary bullous dystrophy, macular type
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:3197 Hereditary hyperekplexia
- ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria
- OMIM:600361 Hereditary motor and sensory neuropathy V
- OMIM:601152 Hereditary motor and sensory neuropathy VI
- ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type
- OMIM:606071 Hereditary motor and sensory neuropathy, type IIC
- ORPHA:178464 Hereditary myopathy with early respiratory failure
- ORPHA:640 Hereditary neuropathy with liability to pressure palsies
- ORPHA:79141 Hereditary painful callosities
- ORPHA:79357 Hereditary palmoplantar keratoderma
- ORPHA:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
- ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1
- ORPHA:970 Hereditary sensory and autonomic neuropathy type 2
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- OMIM:608233 Hermansky-Pudlak syndrome 2
- OMIM:306955 Heterotaxy, visceral, 1, X-linked
- OMIM:300049 Heterotopia, periventricular, X-linked dominant
- OMIM:618724 Heyn-Sproul-Jackson syndrome
- OMIM:306960 Hhhh syndrome
- OMIM:619311 Hiatt-Neu-Cooper neurodevelopmental syndrome
- ORPHA:189 Hidrotic ectodermal dysplasia
- OMIM:142669 Hip dysplasia, Beukes type
- ORPHA:2114 Hip dysplasia, Beukes type
- ORPHA:388 Hirschsprung disease
- OMIM:235740 Hirschsprung disease with polydactyly, renal agenesis, and deafness
- OMIM:306980 Hirschsprung disease with type D brachydactyly
- OMIM:235750 Hirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect
- OMIM:613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction
- ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome
- ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome
- OMIM:142625 Hirsutism, skeletal dysplasia, and mental retardation
- OMIM:235830 Histidinuria due to A renal tubular defect
- ORPHA:2158 Histidinuria-renal tubular defect syndrome
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:2162 Holoprosencephaly
- OMIM:610829 Holoprosencephaly 9
- OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis
- OMIM:601370 Holoprosencephaly, semilobar, with craniosynostosis
- ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome
- ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome
- OMIM:142900 Holt-Oram syndrome
- ORPHA:392 Holt-Oram syndrome
- ORPHA:2167 Holzgreve syndrome
- OMIM:236110 Holzgreve syndrome
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:228116 Hughes-Stovin syndrome
- ORPHA:3265 Humero-radial synostosis
- ORPHA:3266 Humero-radio-ulnar synostosis
- OMIM:618022 Humerofemoral hypoplasia with radiotibial ray deficiency
- OMIM:143050 Humeroradial synostosis
- OMIM:236410 Humeroradial synostosis with craniofacial anomalies
- OMIM:236400 Humeroradial synostosishumeroradial/multiple synostosis syndrome
- OMIM:611962 Hunter-Macdonald syndrome
- OMIM:181600 Huriez syndrome
- ORPHA:384 Huriez syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- ORPHA:67041 Hyaluronidase deficiency
- OMIM:307000 Hydrocephalus due to congenital stenosis of aqueduct of sylvius
- OMIM:236640 Hydrocephalus with associated malformations
- ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius
- OMIM:600991 Hydrocephalus, skeletal anomalies, and mental disturbance
- ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome
- ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome
- ORPHA:2189 Hydrolethalus
- OMIM:236680 Hydrolethalus syndrome 1
- OMIM:614120 Hydrolethalus syndrome 2
- OMIM:613124 Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
- OMIM:618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive
- OMIM:619752 Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
- OMIM:149400 Hyperekplexia 1
- OMIM:618011 Hyperekplexia 4
- OMIM:144110 Hyperhidrosis palmaris et plantaris
- OMIM:617013 Hypermanganesemia with dystonia 2
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- ORPHA:3416 Hyperostosis corticalis generalisata
- OMIM:144750 Hyperostosis, endosteal
- OMIM:239200 Hyperparathyroidism, neonatal severe
- OMIM:618188 Hyperparathyroidism, transient neonatal
- OMIM:233910 Hyperphenylalaninemia, BH4-deficient, B
- OMIM:617384 Hyperphenylalaninemia, MILD, non-bh4-deficient
- OMIM:615716 Hyperphosphatasia with impaired intellectual development syndrome 4
- OMIM:239300 Hyperphosphatasia with mental retardation
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:145290 HYPERREFLEXIA
- OMIM:614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
- OMIM:239800 Hypertelorism, microtia, facial clefting syndrome
- ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome
- ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome
- OMIM:112410 Hypertension and brachydactyly syndrome
- ORPHA:2220 Hypertrichosis cubiti
- OMIM:239850 Hypertrichotic osteochondrodysplasia
- OMIM:145800 Hypertrophia musculorum vera
- OMIM:145900 Hypertrophic neuropathy of dejerine-sottas
- OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant
- OMIM:259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1
- OMIM:614441 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
- OMIM:600627 HYPERTRYPTOPHANEMIA
- ORPHA:289157 Hypocalcemic vitamin D-dependent rickets
- ORPHA:93160 Hypocalcemic vitamin D-resistant rickets
- ORPHA:429 Hypochondroplasia
- OMIM:146000 Hypochondroplasia
- OMIM:103300 HYPOGLOSSIA-HYPODACTYLIA
- ORPHA:989 Hypoglossia-hypodactyly syndrome
- OMIM:241000 Hypogonadism with low-grade mental deficiency and microcephaly
- ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- OMIM:308700 Hypogonadotropic hypogonadism 1 with or without anosmia
- OMIM:614880 Hypogonadotropic hypogonadism 15 with or without anosmia
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia
- OMIM:614838 Hypogonadotropic hypogonadism 9 with or without anosmia
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- OMIM:241120 Hypohidrosis with abnormal palmar dermal ridges
- ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy
- OMIM:240900 Hypoinsulinemic hypoglycemia with hemihypertrophy
- OMIM:300337 Hypomelanosis of ito
- OMIM:146160 Hypomelia with mullerian duct anomalies
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:436 Hypophosphatasia
- OMIM:146300 Hypophosphatasia, adult
- OMIM:241510 Hypophosphatasia, childhood
- OMIM:241500 Hypophosphatasia, infantile
- OMIM:146350 Hypophosphatemic bone disease
- ORPHA:437 Hypophosphatemic rickets
- OMIM:241530 Hypophosphatemic rickets with hypercalciuria, hereditary
- OMIM:193100 Hypophosphatemic rickets, autosomal dominant
- OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2
- OMIM:307800 Hypophosphatemic rickets, X-linked dominant
- OMIM:300554 Hypophosphatemic rickets, X-linked recessive
- OMIM:618541 Hypopigmentation, organomegaly, and delayed myelination and development
- OMIM:619545 Hypoplastic femurs and pelvis
- ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome
- OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- ORPHA:90673 Hypothyroidism due to TSH receptor mutations
- OMIM:614450 Hypothyroidism, congenital, nongoitrous, 6
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
- OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- OMIM:616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome
- ORPHA:1573 Hypotrichosis with juvenile macular degeneration
- ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type
- OMIM:607823 Hypotrichosis-Lymphedema-Telangiectasia syndrome
- ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Code pathologie
Nom de la pathologie
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- ORPHA:79503 Ichthyosis hystrix of Curth-Macklin
- OMIM:146700 Ichthyosis vulgaris
- OMIM:242300 Ichthyosis, congenital, autosomal recessive 1
- OMIM:615024 Ichthyosis, congenital, autosomal recessive 10
- OMIM:617574 Ichthyosis, congenital, autosomal recessive 13
- OMIM:242100 Ichthyosis, congenital, autosomal recessive 2
- OMIM:606545 Ichthyosis, congenital, autosomal recessive 3
- OMIM:601277 Ichthyosis, congenital, autosomal recessive 4A
- OMIM:242500 Ichthyosis, congenital, autosomal recessive 4B
- OMIM:604777 Ichthyosis, congenital, autosomal recessive 5
- OMIM:612281 Ichthyosis, congenital, autosomal recessive 6
- OMIM:615022 Ichthyosis, congenital, autosomal recessive 7
- OMIM:615023 Ichthyosis, congenital, autosomal recessive 9
- OMIM:607602 Ichthyosis, cyclic, with epidermolytic hyperkeratosis
- OMIM:602540 Ichthyosis, hystrix-like, with deafness
- OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation
- OMIM:308100 Ichthyosis, X-linked
- OMIM:146720 Ichthyosis-Cheek-Eyebrow syndrome
- ORPHA:60033 Idiopathic bronchiectasis
- ORPHA:95717 Idiopathic congenital hypothyroidism
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:275766 Idiopathic pulmonary arterial hypertension
- ORPHA:2032 Idiopathic pulmonary fibrosis
- ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449427 IgG4-related pachymeningitis
- ORPHA:49041 IgG4-related retroperitoneal fibrosis
- OMIM:618786 Imagawa-Matsumoto syndrome
- ORPHA:85173 IMAGe syndrome
- ORPHA:206569 Immune-mediated necrotizing myopathy
- OMIM:615966 Immunodeficiency 26 with or without neurologic abnormalities
- OMIM:209950 Immunodeficiency 27A, mycobacteriosis, AR
- OMIM:241600 Immunodeficiency 43
- OMIM:233600 Immunodeficiency 59 and hypoglycemia
- OMIM:618534 Immunodeficiency 64
- OMIM:618969 Immunodeficiency 70
- OMIM:618982 Immunodeficiency 72 with autoinflammation
- OMIM:619238 Immunodeficiency 79
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:615767 Immunodeficiency, common variable, 11
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:308230 Immunodeficiency, X-linked, with hyper-IgM
- OMIM:616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- OMIM:617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities
- ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome
- OMIM:619733 Inclusion body myopathy and brain white matter abnormalities
- OMIM:167320 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1
- OMIM:615424 Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3
- ORPHA:611 Inclusion body myositis
- ORPHA:464 Incontinentia pigmenti
- ORPHA:238455 Infantile dystonia-parkinsonism
- ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- ORPHA:206436 Infantile Krabbe disease
- OMIM:615438 Infantile liver failure syndrome 1
- OMIM:618641 Infantile liver failure syndrome 3
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:2591 Infantile myofibromatosis
- OMIM:269920 Infantile sialic acid storage disease
- ORPHA:3173 Infantile spasms-broad thumbs syndrome
- ORPHA:2176 Infantile systemic hyalinosis
- ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy
- ORPHA:63259 Iniencephaly
- OMIM:256800 Insensitivity to pain, congenital, with anhidrosis
- OMIM:608747 Insulin-Like growth factor I deficiency
- OMIM:270450 Insulin-Like growth factor I, resistance to
- OMIM:618522 Intellectual developmental disorder 59
- OMIM:618793 Intellectual developmental disorder 62
- OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies
- OMIM:615032 Intellectual developmental disorder with autism and macrocephaly
- OMIM:618725 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- OMIM:618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
- OMIM:617333 Intellectual developmental disorder with dysmorphic facies and ptosis
- OMIM:617452 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
- OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
- OMIM:618147 Intellectual developmental disorder with hypertelorism and distinctive facies
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
- OMIM:619000 Intellectual developmental disorder with seizures and language delay
- OMIM:618470 Intellectual developmental disorder with severe speech and ambulation defects
- OMIM:618453 Intellectual developmental disorder with short stature and variable skeletal anomalies
- OMIM:606220 Intellectual developmental disorder with short stature, facial anomalies, and speech defects
- OMIM:618672 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
- OMIM:614563 Intellectual developmental disorder, autosomal dominant 13
- OMIM:615502 Intellectual developmental disorder, autosomal dominant 21
- OMIM:615761 Intellectual developmental disorder, autosomal dominant 23
- OMIM:615834 Intellectual developmental disorder, autosomal dominant 26
- OMIM:616393 Intellectual developmental disorder, autosomal dominant 38
- OMIM:616977 Intellectual developmental disorder, autosomal dominant 43
- OMIM:617600 Intellectual developmental disorder, autosomal dominant 45
- OMIM:617788 Intellectual developmental disorder, autosomal dominant 51
- OMIM:617796 Intellectual developmental disorder, autosomal dominant 52
- OMIM:617798 Intellectual developmental disorder, autosomal dominant 53
- OMIM:618106 Intellectual developmental disorder, autosomal dominant 58
- OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures
- OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
- OMIM:619188 Intellectual developmental disorder, autosomal dominant 64
- OMIM:619320 Intellectual developmental disorder, autosomal dominant 65
- OMIM:619910 Intellectual developmental disorder, autosomal dominant 66
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:613192 Intellectual developmental disorder, autosomal recessive 13
- OMIM:615637 Intellectual developmental disorder, autosomal recessive 41
- OMIM:615942 Intellectual developmental disorder, autosomal recessive 44
- OMIM:616116 Intellectual developmental disorder, autosomal recessive 46
- OMIM:611091 Intellectual developmental disorder, autosomal recessive 5
- OMIM:617773 Intellectual developmental disorder, autosomal recessive 61
- OMIM:618109 Intellectual developmental disorder, autosomal recessive 65
- OMIM:618295 Intellectual developmental disorder, autosomal recessive 67
- OMIM:618302 Intellectual developmental disorder, autosomal recessive 68
- OMIM:619717 Intellectual developmental disorder, autosomal recessive 73
- OMIM:617169 Intellectual developmental disorder, autosomal recessive 74
- OMIM:301024 Intellectual developmental disorder, X-linked 108
- OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
- OMIM:301039 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- OMIM:619719 Intellectual disability and myopathy syndrome
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:166108 Intellectual disability, Birk-Barel type
- ORPHA:3079 Intellectual disability, Buenos-Aires type
- ORPHA:3080 Intellectual disability, Wolff type
- ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
- ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome
- ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome
- ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome
- ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
- ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome
- ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
- ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked
- ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome
- ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
- ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome
- ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome
- ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
- ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome
- ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome
- ORPHA:363528 Intellectual disability-strabismus syndrome
- ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa
- ORPHA:210110 Intermediate osteopetrosis
- ORPHA:329967 Intermittent hydrarthrosis
- OMIM:615486 Interstitial lung and liver disease
- OMIM:619611 Interstitial lung disease 1
- OMIM:620045 Intestinal dysmotility syndrome
- OMIM:618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- OMIM:614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- ORPHA:84142 Isaacs syndrome
- OMIM:147891 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:199302 Isolated cleft lip
- ORPHA:217059 Isolated congenital digital clubbing
- ORPHA:141152 Isolated congenital hypoglossia/aglossia
- ORPHA:79144 Isolated congenital onychodysplasia
- ORPHA:2128 Isolated hemihyperplasia
- ORPHA:166119 Isolated osteopoikilosis
- ORPHA:439 Isolated right ventricular hypoplasia
- ORPHA:2440 Isolated split hand-split foot malformation
- ORPHA:3208 Isolated succinate-CoQ reductase deficiency
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20
- ORPHA:2307 IVIC syndrome
- OMIM:147750 Ivic syndrome
Code pathologie
Nom de la pathologie
- OMIM:617988 Jaberi-Elahi syndrome
- ORPHA:1540 Jackson-Weiss syndrome
- OMIM:123150 Jackson-Weiss syndrome
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- ORPHA:79139 Japanese encephalitis
- OMIM:251255 Jawad syndrome
- ORPHA:474 Jeune syndrome
- OMIM:243800 Johanson-Blizzard syndrome
- ORPHA:2316 Johnson neuroectodermal syndrome
- OMIM:147900 Joint laxity, familial
- OMIM:617662 Joint laxity, short stature, and myopia
- ORPHA:475 Joubert syndrome
- OMIM:213300 Joubert syndrome 1
- OMIM:300804 Joubert syndrome 10
- OMIM:614424 Joubert syndrome 14
- OMIM:614464 Joubert syndrome 15
- OMIM:614465 Joubert syndrome 16
- OMIM:614615 Joubert syndrome 17
- OMIM:614815 Joubert syndrome 18
- OMIM:608091 Joubert syndrome 2
- OMIM:614970 Joubert syndrome 20
- OMIM:615665 Joubert syndrome 22
- OMIM:616490 Joubert syndrome 23
- OMIM:616654 Joubert syndrome 24
- OMIM:617622 Joubert syndrome 30
- OMIM:617757 Joubert syndrome 32
- OMIM:618161 Joubert syndrome 35
- OMIM:618763 Joubert syndrome 36
- OMIM:619185 Joubert syndrome 37
- OMIM:619562 Joubert syndrome 39
- OMIM:619582 Joubert syndrome 40
- OMIM:611560 Joubert syndrome 7
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:220493 Joubert syndrome with ocular defect
- ORPHA:2318 Joubert syndrome with oculorenal defect
- ORPHA:220497 Joubert syndrome with renal defect
- ORPHA:2319 Juberg-Hayward syndrome
- ORPHA:79405 Junctional epidermolysis bullosa inversa
- ORPHA:2028 Juvenile hyaline fibromatosis
- ORPHA:2801 Juvenile Paget disease
- ORPHA:79076 Juvenile polyposis of infancy
- OMIM:174900 Juvenile polyposis syndrome
- ORPHA:2929 Juvenile polyposis syndrome
- OMIM:175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2322 Kabuki syndrome
- OMIM:147920 Kabuki syndrome 1
- OMIM:300867 Kabuki syndrome 2
- ORPHA:254519 Kagami-Ogata syndrome
- OMIM:608149 Kagami-Ogata syndrome
- ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- OMIM:612713 Kahrizi syndrome
- ORPHA:478 Kallmann syndrome
- OMIM:308750 Kallmann syndrome with spastic paraplegia
- ORPHA:33276 Kaposi sarcoma
- ORPHA:464329 Kaposiform lymphangiomatosis
- OMIM:244300 Kapur-Toriello syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- OMIM:148050 KBG syndrome
- ORPHA:2332 KBG syndrome
- ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability
- OMIM:301026 Keipert syndrome
- ORPHA:2662 Keipert syndrome
- OMIM:244460 Kenny-caffey syndrome, type 1
- OMIM:127000 Kenny-caffey syndrome, type 2
- OMIM:148210 Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant
- OMIM:244600 Keratoconus posticus circumscriptus
- ORPHA:494 Keratoderma hereditarium mutilans
- ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis
- OMIM:244850 Keratoderma, palmoplantar, norrbotten Recessive type
- OMIM:614936 Keratoderma, palmoplantar, punctate type IB
- OMIM:148350 Keratoderma, palmoplantar, with deafness
- OMIM:148360 Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensoryneuropathy
- OMIM:620009 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
- OMIM:148370 Keratolytic winter erythema
- OMIM:612843 Keratosis follicularis spinulosa decalvans, autosomal dominant
- OMIM:308800 Keratosis follicularis spinulosa decalvans, X-linked
- OMIM:601952 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
- ORPHA:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
- OMIM:148520 Keratosis palmaris et plantaris with clinodactyly
- ORPHA:86919 Keratosis palmaris et plantaris-clinodactyly syndrome
- OMIM:148700 Keratosis palmoplantaris striata I
- OMIM:612908 Keratosis palmoplantaris striata II
- OMIM:607654 Keratosis palmoplantaris striata III
- OMIM:148730 Keratosis, focal palmoplantar and gingival
- ORPHA:85202 Keutel syndrome
- OMIM:245150 Keutel syndrome
- OMIM:618460 Khan-Khan-Katsanis syndrome
- ORPHA:477 KID syndrome
- ORPHA:97332 Kienbock disease
- OMIM:619080 Kilquist syndrome
- ORPHA:2908 Kindler epidermolysis bullosa
- OMIM:173650 Kindler syndrome
- OMIM:619297 KINSSHIP syndrome
- OMIM:148800 Kleeblattschaedel syndrome
- OMIM:610253 Kleefstra syndrome
- ORPHA:261494 Kleefstra syndrome
- ORPHA:261652 Kleefstra syndrome due to a point mutation
- ORPHA:399081 KLHL9-related early-onset distal myopathy
- OMIM:118100 Klippel-Feil syndrome 1, autosomal dominant
- OMIM:616549 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:149000 Klippel-Trenaunay-Weber syndrome
- OMIM:156550 Kniest dysplasia
- ORPHA:485 Kniest dysplasia
- OMIM:245160 Kniest-Like dysplasia with pursed lips and ectopia lentis
- OMIM:245190 Kniest-Like dysplasia, lethal
- ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
- OMIM:619229 Kohlschutter-Tonz syndrome-like
- OMIM:610443 Koolen-De Vries syndrome
- ORPHA:96169 Koolen-De Vries syndrome
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
- OMIM:616592 Kosaki overgrowth syndrome
- ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma
- OMIM:606693 Kufor-Rakeb syndrome
- ORPHA:306674 Kufor-Rakeb syndrome
- OMIM:619762 Kury-Isidor syndrome
- ORPHA:1149 Kuskokwim syndrome
- OMIM:211350 Kyphomelic dysplasia
- ORPHA:1801 Kyphomelic dysplasia
- ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome
- ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Code pathologie
Nom de la pathologie
- ORPHA:275543 L1 syndrome
- OMIM:149730 Lacrimoauriculodentodigital syndrome
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- ORPHA:59135 Laing early-onset distal myopathy
- OMIM:616803 Lamb-Shaffer syndrome
- OMIM:245550 Lambert syndrome
- OMIM:245552 Lambotte syndrome
- OMIM:262500 Laron syndrome
- ORPHA:633 Laron syndrome
- OMIM:150250 Larsen syndrome
- ORPHA:503 Larsen syndrome
- ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome
- OMIM:608545 Larsen-Like syndrome
- OMIM:150260 Laryngeal abductor paralysis
- ORPHA:206443 Late-infantile/juvenile Krabbe disease
- ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type
- ORPHA:79406 Late-onset junctional epidermolysis bullosa
- OMIM:607330 Lathosterolosis
- ORPHA:46059 Lathosterolosis
- OMIM:245800 Laurence-Moon syndrome
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:2378 Laurin-Sandrow syndrome
- OMIM:135750 Laurin-Sandrow syndrome
- OMIM:246000 Leg, absence deformity of, with congenital cataract
- OMIM:150600 Legg-Calve-Perthes disease
- ORPHA:137605 Legius syndrome
- ORPHA:140936 Lelis syndrome
- OMIM:151050 Lenz-Majewski hyperostotic dwarfism
- ORPHA:2658 Lenz-Majewski hyperostotic dwarfism
- OMIM:151100 Leopard syndrome 1
- OMIM:611554 Leopard syndrome 2
- OMIM:613707 Leopard syndrome 3
- ORPHA:508 Leprechaunism
- ORPHA:548 Leprosy
- ORPHA:2900 Leri pleonosteosis
- OMIM:300322 Lesch-Nyhan syndrome
- OMIM:619149 Lessel-Kreienkamp syndrome
- ORPHA:158687 Lethal acantholytic erosive disorder
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:616286 Lethal congenital contracture syndrome 7
- OMIM:616503 Lethal congenital contracture syndrome 9
- ORPHA:1486 Lethal congenital contracture syndrome type 1
- ORPHA:1972 Lethal faciocardiomelic dysplasia
- ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome
- ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:2347 Lethal Kniest-like dysplasia
- ORPHA:1423 Lethal recessive chondrodysplasia
- OMIM:601356 Lethal short-limb skeletal dysplasia, al Gazali type
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:616420 Leukodystrophy, hypomyelinating, 10
- OMIM:619328 Leukodystrophy, hypomyelinating, 22
- OMIM:610532 Leukodystrophy, hypomyelinating, 5
- OMIM:614381 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
- ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- OMIM:300660 Leukoencephalopathy with metaphyseal chondrodysplasia
- ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome
- ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- ORPHA:65285 Lhermitte-Duclos disease
- OMIM:619189 Li-Campeau syndrome
- OMIM:618974 Li-Ghorgani-Weisz-Hubshman syndrome
- OMIM:618889 Liberfarb syndrome
- ORPHA:99812 LIG4 syndrome
- ORPHA:2369 Limb body wall complex
- OMIM:246555 Limb defects, distal transverse, with mental retardation and spasticity
- OMIM:609115 Limb-girdle muscular dystrophy, type 1G
- OMIM:603543 Limb-Mammary syndrome
- ORPHA:69085 Limb-mammary syndrome
- ORPHA:220402 Limited cutaneous systemic sclerosis
- ORPHA:2612 Linear nevus sebaceus syndrome
- OMIM:309801 Linear skin defects with multiple congenital anomalies 1
- OMIM:300887 Linear skin defects with multiple congenital anomalies 2
- ORPHA:2611 Linear verrucous nevus syndrome
- ORPHA:435660 LIPE-related familial partial lipodystrophy
- ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:615980 Lipodystrophy, familial partial, type 6
- OMIM:606721 Lipodystrophy, familial partial, type 7
- OMIM:608154 Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones
- ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome
- OMIM:616212 Lissencephaly 6, with microcephaly
- OMIM:616342 Lissencephaly 7 with cerebellar hypoplasia
- OMIM:617255 Lissencephaly 8
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome
- ORPHA:542643 Livedoid vasculopathy
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form
- ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form
- ORPHA:79400 Localized epidermolysis bullosa simplex
- ORPHA:251393 Localized junctional epidermolysis bullosa
- ORPHA:90289 Localized scleroderma
- ORPHA:60030 Loeys-Dietz syndrome
- OMIM:609192 Loeys-Dietz syndrome 1
- OMIM:610168 Loeys-Dietz syndrome 2
- OMIM:613795 Loeys-Dietz syndrome 3
- OMIM:614816 Loeys-Dietz syndrome 4
- OMIM:615582 Loeys-Dietz syndrome 5
- OMIM:619656 Loeys-Dietz syndrome 6
- OMIM:618447 Long QT syndrome 8
- OMIM:617435 Lopes-Maciel-Rodan syndrome
- OMIM:309000 Lowe syndrome
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- ORPHA:276435 Lower motor neuron syndrome with late-adult onset
- ORPHA:2409 Lowry-MacLean syndrome
- OMIM:226960 Lowry-Wood syndrome
- ORPHA:1824 Lowry-Wood syndrome
- ORPHA:776 Lujan-Fryns syndrome
- OMIM:309520 Lujan-Fryns syndrome
- ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome
- OMIM:619460 Luo-Schoch-Yamamoto syndrome
- OMIM:616831 Luscan-Lumish syndrome
- OMIM:152800 Lymphangiectasia, intestinal
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- ORPHA:2035 Lymphatic filariasis
- OMIM:619401 Lymphatic malformation 11
- OMIM:614038 Lymphedema, primary, with myelodysplasia
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- OMIM:247610 Lymphoid interstitial pneumonia
- ORPHA:79128 Lymphoid interstitial pneumonia
Code pathologie
Nom de la pathologie
- OMIM:247990 Macdermot-Winter syndrome
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- OMIM:617011 Macrocephaly, dysmorphic facies, and psychomotor retardation
- ORPHA:397612 Macrocephaly-developmental delay syndrome
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- OMIM:248000 Macrocephaly/megalencephaly syndrome, autosomal recessive
- OMIM:155500 MACRODACTYLY
- OMIM:248010 Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- OMIM:608895 Macular degeneration, age-related, 3
- ORPHA:137867 Madras motor neuron disease
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- ORPHA:77297 Majeed syndrome
- ORPHA:87503 Mal de Meleda
- OMIM:614753 Malan syndrome
- ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- ORPHA:168811 Malignant peritoneal mesothelioma
- ORPHA:397941 MAN1B1-CDG
- OMIM:248370 Mandibuloacral dysplasia
- ORPHA:2457 Mandibuloacral dysplasia
- OMIM:619127 Mandibuloacral dysplasia progeroid syndrome
- ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy
- OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy
- ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy
- OMIM:608257 Mandibulofacial dysostosis with ptosis, autosomal dominant
- OMIM:610536 Mandibulofacial dysostosis, Guion-Almeida type
- ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome
- OMIM:619322 Marbach-Rustad progeroid syndrome
- OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome
- ORPHA:221074 Marchiafava-Bignami disease
- ORPHA:2461 Marden-Walker syndrome
- OMIM:248700 Marden-Walker syndrome
- OMIM:616914 Marfan lipodystrophy syndrome
- OMIM:154700 Marfan syndrome
- ORPHA:558 Marfan syndrome
- OMIM:248760 Marfanoid habitus with microcephaly and glomerulonephritis
- OMIM:609008 Marfanoid habitus with situs inversus
- ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome
- OMIM:154750 Marfanoid hypermobility syndrome
- OMIM:248800 Marinesco-Sjogren syndrome
- ORPHA:559 Marinesco-Sjögren syndrome
- ORPHA:560 Marshall syndrome
- OMIM:154780 Marshall syndrome
- OMIM:602535 Marshall-Smith syndrome
- ORPHA:561 Marshall-Smith syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:619420 Martsolf syndrome 2
- OMIM:303350 MASA syndrome
- ORPHA:2466 MASA syndrome
- OMIM:604308 Mass syndrome
- OMIM:248900 Mast syndrome
- ORPHA:2216 Maternal hyperthermia-induced birth defects
- ORPHA:2209 Maternal phenylketonuria
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:96179 Maternal uniparental disomy of chromosome 2
- ORPHA:96180 Maternal uniparental disomy of chromosome 4
- ORPHA:96183 Maternal uniparental disomy of chromosome 9
- ORPHA:261519 Maternal uniparental disomy of chromosome X
- ORPHA:1248 Maxillonasal dysplasia
- OMIM:155050 Maxillonasal dysplasia, Binder type
- ORPHA:562 McCune-Albright syndrome
- ORPHA:2471 McDonough syndrome
- ORPHA:2473 McKusick-Kaufman syndrome
- OMIM:236700 Mckusick-Kaufman syndrome
- OMIM:300842 Mcleod syndrome
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:615397 Meckel syndrome 11
- OMIM:616258 Meckel syndrome 12
- OMIM:619879 Meckel syndrome 14
- OMIM:607361 Meckel syndrome 3
- OMIM:614175 Meckel syndrome, type 10
- OMIM:603194 Meckel syndrome, type 2
- OMIM:611134 Meckel syndrome, type 4
- OMIM:611561 Meckel syndrome, type 5
- OMIM:612284 Meckel syndrome, type 6
- OMIM:267010 Meckel syndrome, type 7
- OMIM:613885 Meckel syndrome, type 8
- OMIM:614209 Meckel syndrome, type 9
- ORPHA:1309 Medullary sponge kidney
- OMIM:300989 Meester-Loeys syndrome
- ORPHA:2477 Megalencephaly
- ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- OMIM:603387 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- OMIM:615937 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
- OMIM:615938 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
- ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- ORPHA:2479 Megalocornea-intellectual disability syndrome
- OMIM:249310 Megalocornea-Mental retardation syndrome
- ORPHA:85282 MEHMO syndrome
- OMIM:224690 Meier-Gorlin syndrome 1
- OMIM:613800 Meier-Gorlin syndrome 2
- OMIM:613803 Meier-Gorlin syndrome 3
- OMIM:613804 Meier-Gorlin syndrome 4
- OMIM:613805 Meier-Gorlin syndrome 5
- OMIM:616835 Meier-Gorlin syndrome 6
- OMIM:617063 Meier-Gorlin syndrome 7
- ORPHA:90186 Meige disease
- OMIM:248300 Meleda disease
- ORPHA:31202 Melioidosis
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- ORPHA:2485 Melorheostosis
- ORPHA:1879 Melorheostosis with osteopoikilosis
- OMIM:300960 Mend syndrome
- ORPHA:401973 MEND syndrome
- ORPHA:2495 Meningioma
- OMIM:618332 Menke-Hennekam syndrome 1
- OMIM:618333 Menke-Hennekam syndrome 2
- ORPHA:565 Menkes disease
- OMIM:309400 Menkes disease
- OMIM:616789 Mental retardation and distinctive facial features with or without cardiac defects
- OMIM:249600 Mental retardation syndrome, Mietens-Weber type
- OMIM:300261 Mental retardation syndrome, X-linked, Armfield type
- OMIM:309560 Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
- OMIM:156200 Mental retardation, autosomal dominant 1
- OMIM:615074 Mental retardation, autosomal dominant 18
- OMIM:614113 Mental retardation, autosomal dominant 2
- OMIM:616078 Mental retardation, autosomal dominant 29
- OMIM:616351 Mental retardation, autosomal dominant 34
- OMIM:616355 Mental retardation, autosomal dominant 35
- OMIM:616362 Mental retardation, autosomal dominant 36
- OMIM:616521 Mental retardation, autosomal dominant 39
- OMIM:612581 Mental retardation, autosomal dominant 4
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:617061 Mental retardation, autosomal dominant 44
- OMIM:617752 Mental retardation, autosomal dominant 49
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:614104 Mental retardation, autosomal dominant 7
- OMIM:614255 Mental retardation, autosomal dominant 9
- OMIM:614343 Mental retardation, autosomal recessive 19
- OMIM:614341 Mental retardation, autosomal recessive 33
- OMIM:615162 Mental retardation, autosomal recessive 35
- OMIM:615516 Mental retardation, autosomal recessive 38
- OMIM:615541 Mental retardation, autosomal recessive 39
- OMIM:616269 Mental retardation, autosomal recessive 48
- OMIM:249630 Mental retardation, buenos Aires type
- OMIM:606242 Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism
- OMIM:606772 Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies
- OMIM:309620 Mental retardation, skeletal dysplasia, and abducens palsy
- OMIM:300928 Mental retardation, X-linked 101
- OMIM:300982 Mental retardation, X-linked 103
- OMIM:300997 Mental retardation, X-linked 106
- OMIM:300957 Mental retardation, X-linked 12/35
- OMIM:300844 Mental retardation, X-linked 19
- OMIM:300558 Mental retardation, X-linked 30
- OMIM:309549 Mental retardation, X-linked 9
- OMIM:300577 Mental retardation, X-linked 91
- OMIM:300659 Mental retardation, X-linked 93
- OMIM:300912 Mental retardation, X-linked 98
- OMIM:300919 Mental retardation, X-linked 99
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300243 Mental retardation, x-linked syndromic, Christianson type
- OMIM:300260 Mental retardation, x-linked syndromic, Lubs type
- OMIM:300799 Mental retardation, x-linked syndromic, Raymond type
- OMIM:309590 Mental retardation, x-linked syndromic, Turner type
- OMIM:300055 Mental retardation, X-linked, syndromic 13
- OMIM:300676 Mental retardation, X-linked, syndromic 14
- OMIM:300966 Mental retardation, X-linked, syndromic 33
- OMIM:300967 Mental retardation, X-linked, syndromic 34
- OMIM:300998 Mental retardation, X-linked, syndromic, 35
- OMIM:300986 Mental retardation, X-linked, syndromic, Bain type
- OMIM:300354 Mental retardation, X-linked, syndromic, Cabezas type
- OMIM:300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type
- OMIM:300860 Mental retardation, X-linked, syndromic, Nascimento type
- OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type
- OMIM:300706 Mental retardation, x-linked, syndromic, Turner type
- OMIM:300419 Mental retardation, X-linked, with or without seizures, arx-related
- OMIM:249670 Mesoaxial hexadactyly and cardiac malformation
- ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction
- OMIM:600383 Mesomelia-Synostoses syndrome
- ORPHA:2496 Mesomelia-synostoses syndrome
- OMIM:156230 Mesomelic dwarfism of hypoplastic tibia and Radius type
- ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type
- ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- OMIM:156232 Mesomelic dysplasia, Kantaputra type
- ORPHA:1836 Mesomelic dysplasia, Kantaputra type
- ORPHA:2633 Mesomelic dysplasia, Nievergelt type
- OMIM:605274 Mesomelic dysplasia, Savarirayan type
- ORPHA:85170 Mesomelic dysplasia, Savarirayan type
- OMIM:249710 Mesomelic limb shortening and bowing
- OMIM:309630 Metacarpal 4-5 fusion
- ORPHA:2499 Metachondromatosis
- OMIM:156250 METACHONDROMATOSIS
- OMIM:250215 Metaphyseal acroscyphodysplasia
- ORPHA:1240 Metaphyseal acroscyphodysplasia
- ORPHA:1040 Metaphyseal anadysplasia
- OMIM:613073 Metaphyseal anadysplasia 2
- OMIM:156400 Metaphyseal chondrodysplasia, Jansen type
- OMIM:250230 Metaphyseal chondrodysplasia, Kaitila type
- OMIM:250300 Metaphyseal chondrodysplasia, Pena type
- ORPHA:174 Metaphyseal chondrodysplasia, Schmid type
- OMIM:156500 Metaphyseal chondrodysplasia, Schmid type
- ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type
- OMIM:250400 Metaphyseal chondrodysplasia, Spahr type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- OMIM:250420 Metaphyseal dysostosis, mental retardation, and conductive deafness
- ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- OMIM:156510 Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
- OMIM:250460 Metaphyseal dysplasia without hypotrichosis
- ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type
- OMIM:156520 Metatarsus varus, type I
- ORPHA:2635 Metatropic dysplasia
- OMIM:156530 Metatropic dysplasia
- ORPHA:2169 Methylcobalamin deficiency type cblE
- OMIM:614105 Methylmalonate semialdehyde dehydrogenase deficiency
- OMIM:277380 Methylmalonic aciduria and homocystinuria, Cblf type
- ORPHA:79329 MGAT2-CDG
- ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome
- ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency
- ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II
- ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III
- OMIM:210710 Microcephalic osteodysplastic primordial dwarfism, type I
- OMIM:210720 Microcephalic osteodysplastic primordial dwarfism, type II
- OMIM:210730 Microcephalic osteodysplastic primordial dwarfism, type III
- ORPHA:319675 Microcephalic primordial dwarfism, Dauber type
- OMIM:210700 Microcephalic primordial dwarfism, Montreal type
- OMIM:251190 Microcephalic primordial dwarfism, Toriello type
- ORPHA:2643 Microcephalic primordial dwarfism, Toriello type
- OMIM:616051 Microcephaly 13, primary, autosomal recessive
- OMIM:616681 Microcephaly 16, primary, autosomal recessive
- OMIM:604317 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
- OMIM:617984 Microcephaly 22, primary, autosomal recessive
- OMIM:618179 Microcephaly 24, primary, autosomal recessive
- OMIM:619180 Microcephaly 27, primary, autosomal dominant
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:607196 Microcephaly, Amish type
- OMIM:156580 Microcephaly, autosomal dominant
- OMIM:614407 Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome
- OMIM:601355 Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs
- OMIM:601420 Microcephaly, corpus callosum dysgenesis, and cleft lip/palate
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
- OMIM:617604 Microcephaly, short stature, and limb abnormalities
- ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome
- ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome
- OMIM:614261 Microcephaly-Capillary malformation syndrome
- ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome
- OMIM:251220 MICROCEPHALY-CARDIOMYOPATHY
- ORPHA:2515 Microcephaly-cardiomyopathy syndrome
- ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
- ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
- ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
- ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome
- ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- OMIM:251230 Microcephaly-Micromelia syndrome
- ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
- ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome
- ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome
- ORPHA:217377 Microduplication Xp11.22p11.23 syndrome
- ORPHA:2538 Microgastria-limb reduction defect syndrome
- OMIM:156810 Microgastria-Limb reduction defects association
- ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- OMIM:605013 MICROHYDRANENCEPHALY
- ORPHA:50810 Microlissencephaly-micromelia syndrome
- OMIM:156830 Micromelic bone dysplasia with cloverleaf skull
- ORPHA:139471 Microphthalmia with brain and digit anomalies
- OMIM:607597 Microphthalmia with cyst, bilateral facial clefts, and limb anomalies
- OMIM:206920 Microphthalmia with limb anomalies
- ORPHA:1106 Microphthalmia with limb anomalies
- OMIM:613094 Microphthalmia, isolated 4
- ORPHA:568 Microphthalmia, Lenz type
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:300166 Microphthalmia, syndromic 2
- OMIM:607932 Microphthalmia, syndromic 6
- OMIM:601349 Microphthalmia, syndromic 8
- ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome
- OMIM:615877 Microphthalmia/coloboma and skeletal dysplasia syndrome
- ORPHA:289522 Microtriplication 11q24.1
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- OMIM:608624 Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:601016 Midline malformations, multiple, with limb abnormalities and hypopituitarism
- ORPHA:2557 Mietens syndrome
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:531 Miller-Dieker syndrome
- ORPHA:79452 Milroy disease
- OMIM:617053 Mirage syndrome
- ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome
- OMIM:618960 Mitchell syndrome
- OMIM:618239 Mitochondrial complex I deficiency, nuclear type 17
- OMIM:618222 Mitochondrial complex I deficiency, nuclear type 2
- OMIM:618247 Mitochondrial complex I deficiency, nuclear type 26
- OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36
- OMIM:615824 Mitochondrial complex III deficiency, nuclear type 7
- OMIM:619053 Mitochondrial complex IV deficiency, nuclear type 10
- OMIM:619054 Mitochondrial complex IV deficiency, nuclear type 11
- OMIM:619059 Mitochondrial complex IV deficiency, nuclear type 15
- OMIM:619060 Mitochondrial complex IV deficiency, nuclear type 16
- OMIM:618120 Mitochondrial complex V (ATP synthase) deficiency nuclear type 5
- OMIM:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- OMIM:603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- OMIM:615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:618811 Mitochondrial DNA depletion syndrome 18
- OMIM:609560 Mitochondrial DNA depletion syndrome 2 (myopathic type)
- OMIM:256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- OMIM:500013 Mitochondrial form of axonal Charcot-Marie-Tooth disease-1
- OMIM:500002 Mitochondrial myopathy with diabetes
- OMIM:251900 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
- ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- ORPHA:746 Mitochondrial trifunctional protein deficiency
- OMIM:254130 Miyoshi muscular dystrophy 1
- OMIM:613319 Miyoshi muscular dystrophy 3
- ORPHA:45448 Miyoshi myopathy
- ORPHA:3434 MMEP syndrome
- ORPHA:178145 Moderate multiminicore disease with hand involvement
- OMIM:157900 Moebius syndrome
- ORPHA:570 Moebius syndrome
- ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- ORPHA:79330 MOGS-CDG
- OMIM:252100 Mohr syndrome
- ORPHA:52368 Mohr-Tranebjaerg syndrome
- OMIM:304700 Mohr-Tranebjaerg syndrome
- OMIM:157950 Molar I reinclusion
- OMIM:615501 Molybdenum cofactor deficiency, complementation group C
- OMIM:157980 MOMO syndrome
- ORPHA:2563 MOMO syndrome
- ORPHA:65684 Monomelic amyotrophy
- ORPHA:1587 Monosomy 13q14
- ORPHA:96168 Monosomy 13q34
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:281 Monosomy 5p
- ORPHA:261112 Monosomy 9p
- ORPHA:77301 Monosomy 9q22.3
- ORPHA:99226 Monosomy X
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1692 Mosaic trisomy 1
- ORPHA:1703 Mosaic trisomy 14
- ORPHA:1706 Mosaic trisomy 15
- ORPHA:1708 Mosaic trisomy 16
- ORPHA:1724 Mosaic trisomy 20
- ORPHA:96061 Mosaic trisomy 8
- ORPHA:99776 Mosaic trisomy 9
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:614114 Mosaic variegated aneuploidy syndrome 2
- ORPHA:2152 Mowat-Wilson syndrome
- ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation
- ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22
- OMIM:300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism
- ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:252500 Mucolipidosis II alpha/beta
- OMIM:252600 Mucolipidosis III alpha/beta
- OMIM:252605 Mucolipidosis III gamma
- ORPHA:576 Mucolipidosis type II
- ORPHA:578 Mucolipidosis type IV
- OMIM:252700 Mucopolysaccharidoses, unclassified types
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:581 Mucopolysaccharidosis type 3
- ORPHA:582 Mucopolysaccharidosis type 4
- ORPHA:583 Mucopolysaccharidosis type 6
- ORPHA:584 Mucopolysaccharidosis type 7
- OMIM:253010 Mucopolysaccharidosis type IVB (Morquio)
- OMIM:601492 Mucopolysaccharidosis type IX
- OMIM:253220 Mucopolysaccharidosis VII
- OMIM:252940 Mucopolysaccharidosis, type IIID
- OMIM:253200 Mucopolysaccharidosis, type VI
- OMIM:619698 Mucopolysaccharidosis, type X
- ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- OMIM:617303 Mucopolysaccharidosis-Plus syndrome
- ORPHA:566943 Mueller-Weiss syndrome
- ORPHA:53271 Muenke syndrome
- OMIM:602849 Muenke syndrome
- OMIM:617352 Mulchandani-Bhoj-Conlin syndrome
- OMIM:253250 Mulibrey nanism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy
- OMIM:166300 Multicentric carpotarsal osteolysis syndrome
- OMIM:259600 Multicentric osteolysis, nodulosis, and arthropathy
- ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum
- ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- ORPHA:641 Multifocal motor neuropathy
- ORPHA:598 Multiminicore myopathy
- ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome
- OMIM:236500 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- ORPHA:2505 Multiple benign circumferential skin creases on limbs
- ORPHA:148 Multiple carboxylase deficiency
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- OMIM:614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1
- OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- OMIM:162300 Multiple endocrine neoplasia, type IIB
- ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly
- ORPHA:93308 Multiple epiphyseal dysplasia type 1
- ORPHA:93307 Multiple epiphyseal dysplasia type 4
- ORPHA:93311 Multiple epiphyseal dysplasia type 5
- ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type
- ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type
- ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type
- OMIM:245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
- ORPHA:93430 Multiple metaphyseal dysplasia
- ORPHA:321 Multiple osteochondromas
- OMIM:253290 Multiple pterygium syndrome, Lethal type
- OMIM:312150 Multiple pterygium syndrome, X-linked
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- ORPHA:3237 Multiple synostoses syndrome
- OMIM:186500 Multiple synostoses syndrome 1
- OMIM:610017 Multiple synostoses syndrome 2
- OMIM:612961 Multiple synostoses syndrome 3
- OMIM:617898 Multiple synostoses syndrome 4
- OMIM:300559 Muscle glycogenosis, X-linked
- OMIM:300376 Muscular dystrophy, Becker type
- OMIM:604801 Muscular dystrophy, congenital, 1B
- OMIM:613205 Muscular dystrophy, congenital, lmna-related
- OMIM:609456 Muscular dystrophy, congenital, merosin-positive
- OMIM:309950 Muscular dystrophy, hemizygous Lethal type
- OMIM:608423 Muscular dystrophy, limb-girdle, autosomal dominant 2
- OMIM:618129 Muscular dystrophy, limb-girdle, autosomal dominant 4
- OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18
- OMIM:618138 Muscular dystrophy, limb-girdle, autosomal recessive 23
- OMIM:616812 Muscular dystrophy, limb-girdle, autosomal recessive 25
- OMIM:618848 Muscular dystrophy, limb-girdle, autosomal recessive 26
- OMIM:619566 Muscular dystrophy, limb-girdle, autosomal recessive 27
- OMIM:603511 Muscular dystrophy, limb-girdle, type 1E
- OMIM:613530 Muscular dystrophy, limb-girdle, type 1H
- OMIM:253600 Muscular dystrophy, limb-girdle, type 2A
- OMIM:253700 Muscular dystrophy, limb-girdle, type 2C
- OMIM:608099 Muscular dystrophy, limb-girdle, type 2D
- OMIM:604286 Muscular dystrophy, limb-girdle, type 2E
- OMIM:601287 Muscular dystrophy, limb-girdle, type 2F
- OMIM:601954 Muscular dystrophy, limb-girdle, type 2G
- OMIM:254110 Muscular dystrophy, limb-girdle, type 2H
- OMIM:611307 Muscular dystrophy, limb-girdle, type 2L
- OMIM:616827 Muscular dystrophy, limb-girdle, type 2W
- OMIM:617072 Muscular dystrophy, limb-girdle, type 2Y
- OMIM:617232 Muscular dystrophy, limb-girdle, type 2Z
- OMIM:310095 Muscular dystrophy, progressive pectorodorsal
- OMIM:253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
- OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- OMIM:613155 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1
- OMIM:613156 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2
- OMIM:608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6
- OMIM:606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5
- OMIM:609308 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
- OMIM:616094 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12
- OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
- OMIM:612937 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
- OMIM:613157 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
- OMIM:611588 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
- OMIM:607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
- OMIM:616052 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
- OMIM:618135 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
- OMIM:613818 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia
- ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- OMIM:254200 Myasthenia gravis
- OMIM:616228 Myasthenic syndrome, congenital, 14
- OMIM:616330 Myasthenic syndrome, congenital, 18
- OMIM:616720 Myasthenic syndrome, congenital, 19
- OMIM:601462 Myasthenic syndrome, congenital, 1A, slow-channel
- OMIM:608930 Myasthenic syndrome, congenital, 1B, fast-channel
- OMIM:617143 Myasthenic syndrome, congenital, 20, presynaptic
- OMIM:617239 Myasthenic syndrome, congenital, 21, presynaptic
- OMIM:618197 Myasthenic syndrome, congenital, 23, presynaptic
- OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic
- OMIM:616313 Myasthenic syndrome, congenital, 2A, slow-channel
- OMIM:605809 Myasthenic syndrome, congenital, 4A, slow-channel
- OMIM:603034 Myasthenic syndrome, congenital, 5
- OMIM:616040 Myasthenic syndrome, congenital, 7, presynaptic
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- ORPHA:2583 Mycetoma
- ORPHA:268249 Mycophenolate mofetil embryopathy
- ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy
- OMIM:139210 Myhre syndrome
- ORPHA:2588 Myhre syndrome
- ORPHA:247768 Müllerian aplasia and hyperandrogenism
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome
- ORPHA:1942 Myoclonic-astatic epilepsy
- ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome
- OMIM:619040 Myofibrillar myopathy 10
- OMIM:619178 Myofibrillar myopathy 11
- ORPHA:536516 Myopathic Ehlers-Danlos syndrome
- ORPHA:2596 Myopathy and diabetes mellitus
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:255140 Myopathy with giant abnormal mitochondria
- OMIM:620138 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
- OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- OMIM:255200 Myopathy, centronuclear, 2
- OMIM:617760 Myopathy, centronuclear, 6, with fiber-type disproportion
- OMIM:160150 Myopathy, centronuclear, autosomal dominant
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:612540 Myopathy, congenital, compton-north
- OMIM:618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- OMIM:618414 Myopathy, congenital, with fast-twitch (type II) fiber atrophy
- OMIM:255310 Myopathy, congenital, with fiber-type disproportion
- OMIM:618524 Myopathy, congenital, with tremor
- OMIM:610099 Myopathy, distal 3
- OMIM:160500 Myopathy, distal, 1
- OMIM:614065 Myopathy, distal, 4
- OMIM:617030 Myopathy, distal, 5
- OMIM:618655 Myopathy, distal, 6, adult onset
- OMIM:301075 Myopathy, distal, 7, adult-onset, X-linked
- OMIM:160300 Myopathy, distal, infantile-onset
- OMIM:614321 Myopathy, distal, Tateyama type
- OMIM:617158 Myopathy, distal, with rimmed vacuoles
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
- OMIM:616209 Myopathy, isolated mitochondrial, autosomal dominant
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- OMIM:601419 Myopathy, myofibrillar, 1
- OMIM:608810 Myopathy, myofibrillar, 2, mfm2
- OMIM:609452 Myopathy, myofibrillar, 4
- OMIM:612954 Myopathy, myofibrillar, 6
- OMIM:617114 Myopathy, myofibrillar, 7
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:603689 Myopathy, myofibrillar, 9, with early respiratory failure
- OMIM:608358 Myopathy, myosin storage, autosomal dominant
- OMIM:255160 Myopathy, myosin storage, autosomal recessive
- OMIM:605637 Myopathy, proximal, and ophthalmoplegia
- OMIM:616852 Myopathy, scapulohumeroperoneal
- OMIM:182920 Myopathy, spheroid body
- OMIM:160565 Myopathy, tubular aggregate, 1
- OMIM:615883 Myopathy, tubular aggregate, 2
- OMIM:310440 Myopathy, X-linked, with excessive autophagy
- OMIM:300696 Myopathy, X-linked, with postural muscle atrophy
- OMIM:255600 Myosclerosis, autosomal recessive
- OMIM:609200 MYOTILINOPATHY
- OMIM:255700 Myotonia congenita, autosomal recessive
- OMIM:255710 Myotonia with skeletal abnormalities and mental retardation
Code pathologie
Nom de la pathologie
- OMIM:618828 Nabais Sa-de Vries syndrome, type 1
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- OMIM:608156 Nablus mask-like facial syndrome
- OMIM:161000 Naegeli-Franceschetti-Jadassohn syndrome
- ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome
- ORPHA:245 Nager syndrome
- OMIM:164800 Nail disorder, nonsyndromic congenital, 5
- OMIM:107000 Nail disorder, nonsyndromic congenital, 6
- ORPHA:2614 Nail-patella syndrome
- OMIM:161200 Nail-Patella syndrome
- OMIM:302350 Nance-Horan syndrome
- ORPHA:627 Nance-Horan syndrome
- ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome
- OMIM:167730 Nasopalpebral lipoma-coloboma syndrome
- ORPHA:168572 Native American myopathy
- OMIM:601214 Naxos disease
- ORPHA:34217 Naxos disease
- ORPHA:542592 Necrobiosis lipoidica
- OMIM:161700 Necrotizing encephalomyelopathy, subacute, of leigh, adult
- ORPHA:199244 Nelson syndrome
- OMIM:609284 Nemaline myopathy 1
- OMIM:617336 Nemaline myopathy 11, autosomal recessive
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- OMIM:161800 Nemaline myopathy 3
- OMIM:609285 Nemaline myopathy 4
- OMIM:609273 Nemaline myopathy 6
- OMIM:610687 Nemaline myopathy 7
- ORPHA:44 Neonatal adrenoleukodystrophy
- ORPHA:284979 Neonatal Marfan syndrome
- ORPHA:417 Neonatal severe primary hyperparathyroidism
- OMIM:614845 Nephronophthisis 15
- OMIM:256200 Nephrosis with deafness and urinary tract and digital malformations
- ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome
- OMIM:616730 Nephrotic syndrome, type 11
- OMIM:614008 Nestor-Guillermo progeria syndrome
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- OMIM:616038 Neu-Laxova syndrome 2
- ORPHA:2901 Neuralgic amyotrophy
- OMIM:619869 Neurocardiofaciodigital syndrome
- OMIM:619259 Neurodegeneration with ataxia and late-onset optic atrophy
- OMIM:234200 Neurodegeneration with brain iron accumulation 1
- OMIM:610217 Neurodegeneration with brain iron accumulation 2B
- OMIM:614298 Neurodegeneration with brain iron accumulation 4
- OMIM:615643 Neurodegeneration with brain iron accumulation 6
- OMIM:617916 Neurodegeneration with brain iron accumulation 7
- OMIM:618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
- OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive
- OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities
- OMIM:618707 Neurodevelopmental disorder with absent language and variable seizures
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
- OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
- OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
- OMIM:618571 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
- OMIM:618356 Neurodevelopmental disorder with central and peripheral motor dysfunction
- OMIM:619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies
- OMIM:618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
- OMIM:618572 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
- OMIM:618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
- OMIM:620083 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- OMIM:617755 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
- OMIM:618659 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
- OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
- OMIM:619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
- OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- OMIM:620075 Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly
- OMIM:615599 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:618879 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:619383 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
- OMIM:619854 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
- OMIM:620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
- OMIM:617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
- OMIM:618292 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
- OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
- OMIM:619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
- OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:617709 Neurodevelopmental disorder with microcephaly, ataxia, and seizures
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- OMIM:617481 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
- OMIM:619091 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive
- OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant
- OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- OMIM:617523 Neurodevelopmental disorder with midbrain and hindbrain malformations
- OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
- OMIM:617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
- OMIM:619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
- OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- OMIM:619239 Neurodevelopmental disorder with or without autism or seizures
- OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
- OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities
- OMIM:619880 Neurodevelopmental disorder with poor growth and skeletal anomalies
- OMIM:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- OMIM:617903 Neurodevelopmental disorder with poor language and loss of hand skills
- OMIM:616486 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:619072 Neurodevelopmental disorder with seizures and brain atrophy
- OMIM:619323 Neurodevelopmental disorder with seizures and gingival overgrowth
- OMIM:618480 Neurodevelopmental disorder with seizures and speech and walking impairment
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:617804 Neurodevelopmental disorder with severe motor impairment and absent language
- OMIM:619972 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:615075 Neurodevelopmental disorder with spastic diplegia and visual defects
- OMIM:618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
- OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
- OMIM:618547 Neurodevelopmental disorder with visual defects and brain anomalies
- OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
- OMIM:619653 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
- OMIM:301022 Neurodevelopmental disorder, X-linked, with craniofacial abnormalities
- ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome
- OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- ORPHA:2673 Neurofaciodigitorenal syndrome
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:252183 Neurofibroma
- OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral
- ORPHA:1143 Neurogenic arthrogryposis multiplex congenita
- OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- OMIM:618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures
- OMIM:137200 Neuromyotonia and axonal neuropathy, autosomal recessive
- OMIM:182960 Neuronopathy, distal hereditary motor, type I
- OMIM:158590 Neuronopathy, distal hereditary motor, type IIA
- OMIM:608634 Neuronopathy, distal hereditary motor, type IIB
- OMIM:613376 Neuronopathy, distal hereditary motor, type IIC
- OMIM:615575 Neuronopathy, distal hereditary motor, type IID
- OMIM:617721 Neuronopathy, distal hereditary motor, type IX
- OMIM:600794 Neuronopathy, distal hereditary motor, type VA
- OMIM:614751 Neuronopathy, distal hereditary motor, type VB
- OMIM:158580 Neuronopathy, distal hereditary motor, type VIIA
- OMIM:607641 Neuronopathy, distal hereditary motor, type VIIB
- OMIM:600175 Neuronopathy, distal hereditary motor, type VIII
- OMIM:620080 Neuronopathy, distal hereditary motor, type X
- OMIM:619539 Neuroocular syndrome
- OMIM:618652 Neurooculocardiogenitourinary syndrome
- OMIM:605253 Neuropathy, congenital hypomyelinating, 1, autosomal recessive
- OMIM:618184 Neuropathy, congenital hypomyelinating, 2
- OMIM:618186 Neuropathy, congenital hypomyelinating, 3
- OMIM:162370 Neuropathy, congenital, with arthrogryposis multiplex
- OMIM:619112 Neuropathy, distal hereditary motor, type VC
- OMIM:605285 Neuropathy, hereditary motor and sensory, Russe type
- OMIM:616505 Neuropathy, hereditary motor and sensory, type VIB
- OMIM:618511 Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
- OMIM:619216 Neuropathy, hereditary motor, with myopathic features
- OMIM:162400 Neuropathy, hereditary sensory and autonomic, type IA
- OMIM:613640 Neuropathy, hereditary sensory and autonomic, type IC
- OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II
- OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB
- OMIM:608654 Neuropathy, hereditary sensory and autonomic, type V
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:613708 Neuropathy, hereditary sensory, type ID
- OMIM:615632 Neuropathy, hereditary sensory, type IF
- OMIM:614213 Neuropathy, hereditary sensory, type IIC
- OMIM:256840 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
- OMIM:162500 Neuropathy, hereditary, with liability to pressure palsies
- OMIM:256870 Neuropathy, painful
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- ORPHA:98908 Neutral lipid storage myopathy
- OMIM:162700 Neutropenia, chronic familial
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- ORPHA:64754 Nevus comedonicus syndrome
- OMIM:601358 Nicolaides-Baraitser syndrome
- ORPHA:3051 Nicolaides-Baraitser syndrome
- OMIM:163400 Nievergelt syndrome
- ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome
- OMIM:600092 Nivelon-Nivelon-Mabille syndrome
- OMIM:618872 Nizon-Isidor syndrome
- ORPHA:1581 Non-distal monosomy 10q
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:2337 Non-epidermolytic palmoplantar keratoderma
- ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
- ORPHA:442835 Non-specific early-onset epileptic encephalopathy
- ORPHA:35099 Non-syndromic bicoronal craniosynostosis
- ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis
- OMIM:605820 Nonaka myopathy
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:616564 Noonan syndrome 10
- OMIM:618499 Noonan syndrome 11
- OMIM:618624 Noonan syndrome 12
- OMIM:619087 Noonan syndrome 13
- OMIM:619745 Noonan syndrome 14
- OMIM:605275 Noonan syndrome 2
- OMIM:610733 Noonan syndrome 4
- OMIM:611553 Noonan syndrome 5
- OMIM:613706 Noonan syndrome 7
- OMIM:615355 Noonan syndrome 8
- ORPHA:500 Noonan syndrome with multiple lentigines
- ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- OMIM:193003 Nystagmus 4, congenital, autosomal dominant
Code pathologie
Nom de la pathologie
- OMIM:618512 O'donnell-Luria-Rodan syndrome
- ORPHA:99965 O'Sullivan-McLeod syndrome
- ORPHA:198 Occipital horn syndrome
- OMIM:304150 Occipital horn syndrome
- ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:2714 Oculo-palato-cerebral syndrome
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type
- OMIM:164180 Oculocerebrocutaneous syndrome
- ORPHA:1647 Oculocerebrocutaneous syndrome
- ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- OMIM:164200 Oculodentodigital dysplasia
- ORPHA:2710 Oculodentodigital dysplasia
- OMIM:257850 Oculodentodigital dysplasia, autosomal recessive
- OMIM:600268 Oculoectodermal syndrome
- ORPHA:2712 Oculofaciocardiodental syndrome
- ORPHA:1794 Oculomaxillofacial dysostosis
- OMIM:164310 Oculopharyngodistal myopathy 1
- OMIM:619473 Oculopharyngodistal myopathy 3
- OMIM:618440 Oculoskeletodental syndrome
- ORPHA:557003 Oculoskeletodental syndrome
- ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome
- ORPHA:166272 Odontochondrodysplasia
- OMIM:257980 Odontoonychodermal dysplasia
- OMIM:601957 Odontotrichoungual-Digital-Palmar syndrome
- OMIM:258040 OEIS complex
- ORPHA:276432 Ogden syndrome
- OMIM:300855 Ogden syndrome
- OMIM:249620 Ohdo syndrome
- OMIM:603736 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- OMIM:300895 Ohdo syndrome, X-linked
- ORPHA:2729 Okamoto syndrome
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- ORPHA:85410 Oligoarticular juvenile idiopathic arthritis
- ORPHA:2260 Oligomeganephronia
- OMIM:258200 Oliver syndrome
- ORPHA:2920 Oliver syndrome
- ORPHA:296 Ollier disease
- OMIM:619208 Olmsted syndrome 2
- ORPHA:39041 Omenn syndrome
- OMIM:164745 OMODYSPLASIA
- OMIM:258315 Omodysplasia 1
- ORPHA:352540 Oncogenic osteomalacia
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- OMIM:619356 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
- OMIM:164680 Onychogryposis, pedal, with keratosis plantaris and coarse hair
- OMIM:164900 Ophthalmomandibulomelic dysplasia
- ORPHA:2741 Ophthalmomandibulomelic dysplasia
- OMIM:311000 Ophthalmoplegia, external, and myopia
- OMIM:305450 Opitz-Kaveggia syndrome
- ORPHA:2746 Opsismodysplasia
- OMIM:258480 Opsismodysplasia
- OMIM:311050 Optic atrophy 2
- OMIM:165199 Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant
- OMIM:258650 Optic atrophy, hearing loss, and peripheral neuropathy, autosomalrecessive
- ORPHA:401777 Optic atrophy-intellectual disability syndrome
- OMIM:258840 Oral and digital anomalies with ichthyosis
- OMIM:616788 Orofacial cleft 15
- OMIM:311200 Orofaciodigital syndrome I
- OMIM:258850 Orofaciodigital syndrome III
- OMIM:258860 Orofaciodigital syndrome IV
- OMIM:258865 Orofaciodigital syndrome IX
- ORPHA:2750 Orofaciodigital syndrome type 1
- ORPHA:2756 Orofaciodigital syndrome type 10
- ORPHA:434179 Orofaciodigital syndrome type 14
- ORPHA:2751 Orofaciodigital syndrome type 2
- ORPHA:2752 Orofaciodigital syndrome type 3
- ORPHA:2753 Orofaciodigital syndrome type 4
- ORPHA:2919 Orofaciodigital syndrome type 5
- ORPHA:2754 Orofaciodigital syndrome type 6
- OMIM:174300 Orofaciodigital syndrome V
- OMIM:277170 Orofaciodigital syndrome VI
- OMIM:300484 Orofaciodigital syndrome VIII
- OMIM:165590 Orofaciodigital syndrome X
- OMIM:612913 Orofaciodigital syndrome XI
- OMIM:615948 Orofaciodigital syndrome XIV
- OMIM:620107 Orofaciodigital syndrome XIX
- OMIM:617127 Orofaciodigital syndrome XV
- OMIM:617563 Orofaciodigital syndrome XVI
- OMIM:617926 Orofaciodigital syndrome XVII
- OMIM:617927 Orofaciodigital syndrome XVIII
- OMIM:223360 Orthostatic hypotension 1, due to DBH deficiency
- ORPHA:97335 Osgood-Schlatter disease
- OMIM:165660 Oslam syndrome
- ORPHA:2760 OSLAM syndrome
- OMIM:166350 Osseous heteroplasia, progressive
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:140600 Osteoarthritis of distal interphalangeal joints
- OMIM:604864 Osteoarthritis with mild chondrodysplasia
- ORPHA:2764 Osteochondritis dissecans
- OMIM:184260 Osteochondrodysplasia
- OMIM:618167 Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- OMIM:166990 Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension
- ORPHA:564003 Osteochondrosis of the metatarsal bone
- ORPHA:563991 Osteochondrosis of the tarsal bone
- OMIM:259270 Osteodysplasty, precocious, of danks, mayne, and kozlowski
- OMIM:607278 Osteofibrous dysplasia, susceptibility to
- ORPHA:666 Osteogenesis imperfecta
- OMIM:619131 Osteogenesis imperfecta 21
- OMIM:166200 Osteogenesis imperfecta, type I
- OMIM:166210 Osteogenesis imperfecta, type II
- OMIM:259420 Osteogenesis imperfecta, type III
- OMIM:166220 Osteogenesis imperfecta, type IV
- OMIM:259440 Osteogenesis imperfecta, type IX
- OMIM:610967 Osteogenesis imperfecta, type V
- OMIM:613982 Osteogenesis imperfecta, type VI
- OMIM:610682 Osteogenesis imperfecta, type VII
- OMIM:610915 Osteogenesis imperfecta, type VIII
- OMIM:613848 Osteogenesis imperfecta, type X
- OMIM:610968 Osteogenesis imperfecta, type XI
- OMIM:613849 Osteogenesis imperfecta, type XII
- OMIM:614856 Osteogenesis imperfecta, type XIII
- OMIM:615066 Osteogenesis imperfecta, type XIV
- OMIM:301014 Osteogenesis imperfecta, type XIX
- OMIM:616229 Osteogenesis imperfecta, type XVI
- OMIM:616507 Osteogenesis imperfecta, type XVII
- OMIM:617952 Osteogenesis imperfecta, type XVIII
- OMIM:619795 Osteogenesis imperfecta, type XXII
- OMIM:166250 Osteoglophonic dysplasia
- ORPHA:2645 Osteoglosphonic dysplasia
- OMIM:259610 Osteolysis syndrome, recessive
- OMIM:619377 Osteootohepatoenteric syndrome
- OMIM:300373 Osteopathia striata with cranial sclerosis
- ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome
- ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome
- ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome
- OMIM:259700 Osteopetrosis, autosomal recessive 1
- OMIM:259710 Osteopetrosis, autosomal recessive 2
- OMIM:259730 Osteopetrosis, autosomal recessive 3
- OMIM:259720 Osteopetrosis, autosomal recessive 5
- OMIM:611497 Osteopetrosis, autosomal recessive 6
- OMIM:612301 Osteopetrosis, autosomal recessive 7
- ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
- ORPHA:2788 Osteoporosis-pseudoglioma syndrome
- OMIM:259770 Osteoporosis-pseudoglioma syndrome
- ORPHA:668 Osteosarcoma
- OMIM:166740 Osteosclerosis with ichthyosis and fractures
- ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- OMIM:615198 Osteosclerotic metaphyseal dysplasia
- ORPHA:2792 Otofaciocervical syndrome
- OMIM:166780 Otofaciocervical syndrome
- OMIM:615560 Otofaciocervical syndrome 2
- OMIM:601976 Otofacioosseous-Gonadal syndrome
- ORPHA:2793 Otoonychoperoneal syndrome
- OMIM:259780 Otoonychoperoneal syndrome
- ORPHA:90650 Otopalatodigital syndrome type 1
- ORPHA:90652 Otopalatodigital syndrome type 2
- OMIM:311300 Otopalatodigital syndrome, type I
- OMIM:304120 Otopalatodigital syndrome, type II
- ORPHA:1427 Otospondylomegaepiphyseal dysplasia
- OMIM:215150 Otospondylomegaepiphyseal dysplasia
- ORPHA:206572 Overlap myositis
Code pathologie
Nom de la pathologie
- ORPHA:2796 Pachydermoperiostosis
- ORPHA:2309 Pachyonychia congenita
- OMIM:167210 Pachyonychia congenita 2
- OMIM:615726 Pachyonychia congenita 3
- OMIM:615728 Pachyonychia congenita 4
- OMIM:167200 Pachyonychia congenita, type 1
- OMIM:167220 Pacman dysplasia
- OMIM:602080 Paget disease of bone 2, early-onset
- OMIM:239000 Paget disease of bone 5, juvenile-onset
- ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- OMIM:311450 Pallister W syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:601803 Pallister-Killian syndrome
- OMIM:615225 Palmoplantar carcinoma, multiple self-healing
- OMIM:610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal
- OMIM:212360 Palmoplantar keratoderma and congenital alopecia 2
- OMIM:616099 Palmoplantar keratoderma and woolly hair
- OMIM:104100 Palmoplantar keratoderma with congenital alopecia
- OMIM:600231 Palmoplantar keratoderma, Bothnian type
- OMIM:144200 Palmoplantar keratoderma, epidermolytic
- OMIM:300918 Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
- OMIM:614594 Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques
- OMIM:615598 Palmoplantar keratoderma, Nagashima type
- ORPHA:140966 Palmoplantar keratoderma, Nagashima type
- OMIM:600962 Palmoplantar keratoderma, nonepidermolytic
- OMIM:613000 Palmoplantar keratoderma, nonepidermolytic, focal 1
- OMIM:616400 Palmoplantar keratoderma, nonepidermolytic, focal 2
- OMIM:615735 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- OMIM:148600 Palmoplantar keratoderma, punctate type IA
- ORPHA:2202 Palmoplantar keratoderma-deafness syndrome
- ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome
- ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome
- ORPHA:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome
- OMIM:609069 Pancreatic and cerebellar agenesis
- ORPHA:97336 Panner disease
- ORPHA:157850 Pantothenate kinase-associated neurodegeneration
- ORPHA:678 Papillon-Lefèvre syndrome
- OMIM:245000 Papillon-Lefevre syndrome
- ORPHA:2812 Parana hard skin syndrome
- ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome
- OMIM:168400 Parastremmatic dwarfism
- ORPHA:90307 Parkes Weber syndrome
- OMIM:612953 Parkinson disease 14, autosomal recessive
- OMIM:260300 Parkinson disease 15, autosomal recessive early-onset
- OMIM:615528 Parkinson disease 19a, juvenile-onset
- ORPHA:171695 Parkinsonian-pyramidal syndrome
- ORPHA:261911 Partial deletion of the short arm of chromosome 7
- ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9
- OMIM:168860 Patella aplasia-hypoplasia
- OMIM:168900 Patella, chondromalacia of
- OMIM:169000 Patella, familial recurrent dislocation of
- OMIM:617035 Patent ductus arteriosus 2
- OMIM:604381 Patent ductus arteriosus and bicuspid aortic valve with hand anomalies
- ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
- ORPHA:96190 Paternal uniparental disomy of chromosome 5
- ORPHA:261524 Paternal uniparental disomy of chromosome X
- ORPHA:439822 PDE4D haploinsufficiency syndrome
- OMIM:270300 Peeling skin syndrome 1
- OMIM:607936 Peeling skin syndrome 4
- OMIM:616295 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
- OMIM:260565 Peho syndrome
- ORPHA:2836 PEHO syndrome
- OMIM:617507 Peho-Like syndrome
- OMIM:169400 Pelger-Huet anomaly
- OMIM:602484 Pelvic dysplasia - arthrogryposis of lower limbs
- ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- ORPHA:2839 Pelvis-shoulder dysplasia
- OMIM:169550 Pelvis-Shoulder dysplasia
- ORPHA:93333 Pelviscapular dysplasia
- ORPHA:49 Penile agenesis
- ORPHA:2842 Penoscrotal transposition
- ORPHA:1335 Pentalogy of Cantrell
- ORPHA:11 Pentasomy X
- ORPHA:65250 Perineural cyst
- OMIM:170650 Periodontitis, aggressive, 1
- ORPHA:563 Peripartum cardiomyopathy
- OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
- OMIM:170700 Peripheral dysostosis
- ORPHA:1795 Peripheral dysostosis
- OMIM:619903 Peripheral motor neuropathy, childhood-onset, biotin-responsive
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- OMIM:618124 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
- OMIM:614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
- ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- ORPHA:98892 Periventricular nodular heterotopia
- OMIM:617201 Periventricular nodular heterotopia 7
- OMIM:618918 Periventricular nodular heterotopia 9
- ORPHA:2849 Perlman syndrome
- OMIM:261400 Peroneus tertius muscle, absence of
- ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:266510 Peroxisome biogenesis disorder 3B
- OMIM:614863 Peroxisome biogenesis disorder 4B
- OMIM:614866 Peroxisome biogenesis disorder 5A (Zellweger)
- OMIM:614867 Peroxisome biogenesis disorder 5B
- OMIM:614871 Peroxisome biogenesis disorder 6B
- OMIM:614872 Peroxisome biogenesis disorder 7A (zellweger)
- OMIM:614877 Peroxisome biogenesis disorder 8B
- OMIM:614879 Peroxisome biogenesis disorder 9B
- OMIM:233400 Perrault syndrome 1
- OMIM:615300 Perrault syndrome 4
- OMIM:616138 Perrault syndrome 5
- ORPHA:709 Peters plus syndrome
- OMIM:261540 Peters-Plus syndrome
- OMIM:175200 Peutz-Jeghers syndrome
- OMIM:171000 Peyronie disease
- ORPHA:710 Pfeiffer syndrome
- OMIM:101600 Pfeiffer syndrome
- ORPHA:93258 Pfeiffer syndrome type 1
- ORPHA:93259 Pfeiffer syndrome type 2
- ORPHA:93260 Pfeiffer syndrome type 3
- ORPHA:443811 PGM3-CDG
- ORPHA:2874 Phakomatosis pigmentokeratotica
- ORPHA:2876 PHAVER syndrome
- OMIM:606232 Phelan-Mcdermid syndrome
- ORPHA:1919 Phenobarbital embryopathy
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- ORPHA:2879 Phocomelia, Schinzel type
- OMIM:171480 Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia
- ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
- OMIM:601815 Phosphoglycerate dehydrogenase deficiency
- OMIM:619859 Phosphoribosylaminoimidazole carboxylase deficiency
- ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form
- ORPHA:487825 Pierpont syndrome
- OMIM:602342 Pierpont syndrome
- OMIM:311895 Pierre Robin sequence with facial and digital anomalies
- OMIM:172880 Pierre Robin syndrome and oligodactyly
- OMIM:301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked
- ORPHA:2890 Pili torti-onychodysplasia syndrome
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:610954 Pitt-Hopkins syndrome
- ORPHA:99725 Pituitary gigantism
- ORPHA:2897 Pityriasis rubra pilaris
- OMIM:173200 Pityriasis rubra pilaris
- ORPHA:521426 PLAA-associated neurodevelopmental disorder
- ORPHA:707 Plague
- ORPHA:85166 Platyspondylic dysplasia, Torrance type
- OMIM:151210 Platyspondylic lethal skeletal dysplasia, Torrance type
- ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
- ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17
- ORPHA:280356 PLIN1-related familial partial lipodystrophy
- ORPHA:79318 PMM2-CDG
- ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome
- ORPHA:2905 POEMS syndrome
- OMIM:604173 Poikiloderma with neutropenia
- OMIM:173700 Poikiloderma, hereditary sclerosing
- ORPHA:2911 Poland syndrome
- OMIM:173800 Poland syndrome
- ORPHA:2912 Poliomyelitis
- OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- OMIM:174200 Polydactyly, postaxial, type A1
- OMIM:618498 Polydactyly, postaxial, type A10
- OMIM:602085 Polydactyly, postaxial, type A2
- OMIM:263450 Polydactyly, postaxial, type A5
- OMIM:615226 Polydactyly, postaxial, type A6
- OMIM:617642 Polydactyly, postaxial, type A7
- OMIM:618123 Polydactyly, postaxial, type A8
- OMIM:618219 Polydactyly, postaxial, type A9
- OMIM:174310 Polydactyly, postaxial, with progressive myopia
- OMIM:174400 Polydactyly, preaxial I
- OMIM:174500 Polydactyly, preaxial II
- OMIM:174600 Polydactyly, preaxial III
- OMIM:174700 Polydactyly, preaxial IV
- ORPHA:2917 Polydactyly-myopia syndrome
- ORPHA:453533 Polyendocrine-polyneuropathy syndrome
- OMIM:616199 Polyglucosan body myopathy 2
- OMIM:263570 Polyglucosan body neuropathy, adult form
- OMIM:618343 Polymicrogyria with or without vascular-type EDS
- OMIM:606854 Polymicrogyria, bilateral frontoparietal
- OMIM:616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
- OMIM:612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
- OMIM:263630 Polysyndactyly with cardiac malformation
- ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24
- ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11
- ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14
- OMIM:614688 Pontine tegmental cap dysplasia
- OMIM:607596 Pontocerebellar hypoplasia type 1A
- ORPHA:2524 Pontocerebellar hypoplasia type 2
- OMIM:617695 Pontocerebellar hypoplasia, type 11
- OMIM:618606 Pontocerebellar hypoplasia, type 13
- OMIM:619527 Pontocerebellar hypoplasia, type 16
- OMIM:619909 Pontocerebellar hypoplasia, type 17
- OMIM:614678 Pontocerebellar hypoplasia, type 1B
- OMIM:618065 Pontocerebellar hypoplasia, type 1D
- OMIM:619303 Pontocerebellar hypoplasia, type 1E
- OMIM:612389 Pontocerebellar hypoplasia, type 2B
- OMIM:614969 Pontocerebellar hypoplasia, type 7
- OMIM:614961 Pontocerebellar hypoplasia, type 8
- OMIM:175750 Popliteal cyst
- OMIM:119500 Popliteal pterygium syndrome
- OMIM:263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1
- OMIM:619339 Popliteal pterygium syndrome, Bartsocas-Papas type 2
- OMIM:618428 Popov-Chang syndrome
- ORPHA:737 Porokeratosis plantaris palmaris et disseminata
- OMIM:175850 Porokeratosis plantaris, palmaris, et disseminata
- OMIM:175860 Porokeratosis punctata palmaris et plantaris
- ORPHA:738 Porphyria
- ORPHA:100924 Porphyria due to ALA dehydratase deficiency
- ORPHA:79473 Porphyria variegata
- OMIM:263700 Porphyria, congenital erythropoietic
- OMIM:263750 Postaxial acrofacial dysostosis
- ORPHA:246 Postaxial acrofacial dysostosis
- OMIM:176240 Postaxial oligodactyly, tetramelic
- ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome
- ORPHA:2730 Postaxial tetramelic oligodactyly
- ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome
- ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- ORPHA:268810 Posterior meningocele
- ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- ORPHA:98913 Postsynaptic congenital myasthenic syndromes
- OMIM:601224 Potocki-Shaffer syndrome
- ORPHA:79083 PPARG-related familial partial lipodystrophy
- OMIM:264010 Prader-Willi habitus, osteopenia, and camptodactyly
- OMIM:176270 Prader-Willi syndrome
- ORPHA:739 Prader-Willi syndrome
- ORPHA:177910 Prader-Willi syndrome due to imprinting mutation
- ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion
- ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- ORPHA:177907 Prader-Willi syndrome due to translocation
- ORPHA:398073 Prader-Willi-like syndrome
- OMIM:176305 Preaxial deficiency, postaxial polydactyly, and hypospadias
- OMIM:601759 Preaxial hallucal polydactyly
- ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome
- OMIM:601812 Premature aging syndrome, Penttinen type
- OMIM:264050 Prenatal bowing
- ORPHA:98914 Presynaptic congenital myasthenic syndromes
- OMIM:309610 Prieto syndrome
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- ORPHA:2257 Primary pulmonary hypoplasia
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- OMIM:259050 Primrose syndrome
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:602249 Progeroid facial appearance with hand anomalies
- ORPHA:2963 Progeroid syndrome, Petty type
- OMIM:157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- OMIM:609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- OMIM:610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
- OMIM:617069 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
- OMIM:615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:217260 Progressive multifocal leukoencephalopathy
- ORPHA:2062 Progressive non-infectious anterior vertebral fusion
- ORPHA:2762 Progressive osseous heteroplasia
- ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood
- ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome
- ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
- ORPHA:316 Progressive symmetric erythrokeratodermia
- ORPHA:742 Prolidase deficiency
- ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome
- OMIM:176800 Pronation-Supination of the forearm, impairment of
- OMIM:606054 Propionic acidemia
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- OMIM:618048 Proteasome-Associated autoinflammatory syndrome 2
- OMIM:617591 Proteasome-Associated autoinflammatory syndrome 3
- ORPHA:744 Proteus syndrome
- OMIM:176920 Proteus syndrome, somatic
- ORPHA:2969 Proteus-like syndrome
- OMIM:177050 Protrusio acetabuli
- ORPHA:261197 Proximal 16p11.2 microdeletion syndrome
- ORPHA:370079 Proximal 16p11.2 microduplication syndrome
- ORPHA:3250 Proximal symphalangism
- OMIM:100100 Prune belly syndrome
- ORPHA:2970 Prune belly syndrome
- ORPHA:544469 PRUNE1-related neurological syndrome
- ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy
- OMIM:177170 Pseudoachondroplasia
- ORPHA:750 Pseudoachondroplasia
- ORPHA:221120 Pseudoaminopterin syndrome
- OMIM:264180 Pseudodiastrophic dysplasia
- ORPHA:85174 Pseudodiastrophic dysplasia
- OMIM:264270 Pseudohermaphroditism, female, with skeletal anomalies
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- OMIM:103580 Pseudohypoparathyroidism, type IA
- OMIM:603233 Pseudohypoparathyroidism, type IB
- OMIM:612462 Pseudohypoparathyroidism, type IC
- ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type
- OMIM:264475 Pseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies
- ORPHA:79445 Pseudopseudohypoparathyroidism
- OMIM:612463 PSEUDOPSEUDOHYPOPARATHYROIDISM
- OMIM:264480 Pseudotrisomy 13 syndrome
- ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis
- OMIM:614501 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
- ORPHA:306498 PTEN hamartoma tumor syndrome
- OMIM:177980 Pterygia, mental retardation, and distinctive craniofacial features
- ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome
- OMIM:178200 Pterygium, antecubital
- ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- ORPHA:60025 Pulmonary alveolar microlithiasis
- OMIM:610910 Pulmonary alveolar proteinosis, acquired
- ORPHA:2038 Pulmonary arteriovenous malformation
- ORPHA:199241 Pulmonary capillary hemangiomatosis
- OMIM:614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
- OMIM:178500 Pulmonary fibrosis, idiopathic
- ORPHA:79501 Punctate palmoplantar keratoderma type 1
- ORPHA:254854 Pure mitochondrial myopathy
- ORPHA:763 Pycnodysostosis
- OMIM:265800 Pycnodysostosis
- ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy
- ORPHA:3003 Pyknoachondrogenesis
- OMIM:265900 Pyle disease
- OMIM:604416 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
- ORPHA:765 Pyruvate dehydrogenase deficiency
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- ORPHA:79244 Pyruvate dehydrogenase E2 deficiency
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:769 Rabson-Mendenhall syndrome
- OMIM:312190 Radial aplasia, X-linked
- OMIM:179200 Radial heads, posterior dislocation of
- ORPHA:93321 Radial hemimelia
- OMIM:179250 Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema
- ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- OMIM:179270 Radial ray hypoplasia with choanal atresia
- OMIM:179280 Radial-Renal syndrome
- ORPHA:3015 Radio-renal syndrome
- OMIM:619312 Radio-Tartaglia syndrome
- ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- OMIM:179300 Radioulnar synostosis
- OMIM:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia
- OMIM:616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- OMIM:266255 Radioulnar synostosis, unilateral, with developmental retardationand hypotonia
- ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome
- ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome
- OMIM:179400 Radius, aplasia of, with cleft lip/palate
- OMIM:614202 Rafiq syndrome
- OMIM:617537 Rahman syndrome
- OMIM:259775 Raine syndrome
- OMIM:619013 Rajab interstitial lung disease with brain calcifications 2
- OMIM:266280 Rapadilino syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- OMIM:129400 Rapp-Hodgkin syndrome
- ORPHA:98028 Rare circulatory system disease
- ORPHA:535 Rare cutaneous lupus erythematosus
- ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy
- OMIM:619695 Rauch-Steindl syndrome
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- ORPHA:96167 Recombinant 8 syndrome
- OMIM:179613 Recombinant chromosome 8 syndrome
- ORPHA:86839 Refractory anemia with excess blasts
- OMIM:266500 Refsum disease
- ORPHA:773 Refsum disease
- ORPHA:411709 Renal agenesis
- ORPHA:1848 Renal agenesis, bilateral
- OMIM:191830 Renal hypodysplasia/aplasia 1
- OMIM:611555 Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies
- ORPHA:3033 Renal tubular dysgenesis
- OMIM:615415 Renal-Hepatic-Pancreatic dysplasia 2
- OMIM:309500 Renpenning syndrome
- ORPHA:3242 Renpenning syndrome
- ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome
- ORPHA:1662 Restrictive dermopathy
- OMIM:275210 Restrictive dermopathy 1
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- OMIM:613464 Retinitis pigmentosa 51
- OMIM:616562 Retinitis pigmentosa 74
- OMIM:617781 Retinitis pigmentosa 80
- OMIM:618955 Retinitis pigmentosa 89
- OMIM:250410 Retinitis pigmentosa with or without skeletal anomalies
- OMIM:268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
- ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- OMIM:312750 Rett syndrome
- OMIM:613454 Rett syndrome, congenital variant
- OMIM:613471 Reynolds syndrome
- OMIM:180300 Rheumatoid arthritis
- ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
- ORPHA:177 Rhizomelic chondrodysplasia punctata
- OMIM:215100 Rhizomelic chondrodysplasia punctata, type 1
- OMIM:222765 Rhizomelic chondrodysplasia punctata, type 2
- OMIM:600121 Rhizomelic chondrodysplasia punctata, type 3
- OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5
- OMIM:619598 Rhizomelic dysplasia, Ain-Naz type
- OMIM:601438 Rhizomelic dysplasia, Patterson-Lowry type
- ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type
- OMIM:610319 Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- OMIM:618821 Rhizomelic limb shortening with dysmorphic features
- OMIM:618019 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
- OMIM:268250 Rhizomelic syndrome
- ORPHA:3098 Rhizomelic syndrome, Urbach type
- ORPHA:59315 Rhombencephalosynapsis
- ORPHA:140976 RHYNS syndrome
- OMIM:602152 Rhyns syndrome
- OMIM:601477 Ribbing disease
- ORPHA:97229 Riboflavin transporter deficiency
- ORPHA:3101 Richieri Costa-da Silva syndrome
- OMIM:268850 Richieri-Costa/guion-Almeida syndrome
- OMIM:277440 Rickets, vitamin D-resistant, type IIA
- ORPHA:97244 Rigid spine syndrome
- OMIM:614498 Rigidity and multifocal seizure syndrome, lethal neonatal
- ORPHA:217335 RIN2 syndrome
- ORPHA:1437 Ring chromosome 1 syndrome
- ORPHA:1438 Ring chromosome 10 syndrome
- ORPHA:1439 Ring chromosome 12 syndrome
- ORPHA:96176 Ring chromosome 13 syndrome
- ORPHA:1445 Ring chromosome 21 syndrome
- ORPHA:1446 Ring chromosome 22 syndrome
- ORPHA:1447 Ring chromosome 4 syndrome
- ORPHA:1448 Ring chromosome 6 syndrome
- ORPHA:1449 Ring chromosome 7 syndrome
- ORPHA:1450 Ring chromosome 8 syndrome
- OMIM:606072 Rippling muscle disease
- OMIM:220210 Ritscher-Schinzel syndrome 1
- OMIM:300963 Ritscher-Schinzel syndrome 2
- OMIM:619135 Ritscher-Schinzel syndrome 3
- OMIM:619435 Ritscher-Schinzel syndrome 4
- ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy
- ORPHA:3103 Roberts syndrome
- OMIM:268300 Roberts syndrome
- OMIM:608670 Robin sequence, distinctive facial appearance, and brachydactyly
- ORPHA:3104 Robin sequence-oligodactyly syndrome
- ORPHA:97360 Robinow syndrome
- OMIM:180700 Robinow syndrome, autosomal dominant 1
- OMIM:616331 Robinow syndrome, autosomal dominant 2
- OMIM:616894 Robinow syndrome, autosomal dominant 3
- OMIM:268310 Robinow syndrome, autosomal recessive
- OMIM:618529 Robinow syndrome, autosomal recessive 2
- OMIM:180750 Robinow-Sorauf syndrome
- OMIM:616651 Roifman syndrome
- ORPHA:353298 Roifman syndrome
- OMIM:613328 Roifman-Chitayat syndrome
- ORPHA:2909 Rothmund-Thomson syndrome
- OMIM:268400 Rothmund-Thomson syndrome
- ORPHA:221008 Rothmund-Thomson syndrome type 1
- ORPHA:221016 Rothmund-Thomson syndrome type 2
- OMIM:180800 Roussy-Levy hereditary areflexic dystasia
- ORPHA:3115 Roussy-Lévy syndrome
- ORPHA:783 Rubinstein-Taybi syndrome
- OMIM:180849 Rubinstein-Taybi syndrome 1
- OMIM:613684 Rubinstein-Taybi syndrome 2
- ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations
- ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- OMIM:268650 Rudiger syndrome
- OMIM:616200 Ruijs-Aalfs syndrome
- ORPHA:3121 Ruvalcaba syndrome
- OMIM:180870 Ruvalcaba syndrome
Code pathologie
Nom de la pathologie
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- OMIM:600145 Sacral defect with anterior meningocele
- OMIM:101400 Saethre-Chotzen syndrome
- ORPHA:794 Saethre-Chotzen syndrome
- ORPHA:300493 Sagliker syndrome
- OMIM:611705 Salih myopathy
- OMIM:609056 Salt and pepper developmental regression syndrome
- OMIM:618804 Sandestig-Stefanova syndrome
- ORPHA:309169 Sandhoff disease, adult form
- ORPHA:309162 Sandhoff disease, juvenile form
- ORPHA:2323 Sanjad-Sakati syndrome
- OMIM:613005 Santos syndrome
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- OMIM:612387 Sarcoidosis, susceptibility to, 2
- ORPHA:3129 Sarcosinemia
- ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement
- ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant
- ORPHA:3130 Satoyoshi syndrome
- OMIM:600705 Satoyoshi syndrome
- OMIM:618150 Saul-Wilson syndrome
- OMIM:181180 Say syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:269000 Sc phocomelia syndrome
- OMIM:181250 Scalp defects and postaxial polydactyly
- ORPHA:1003 Scalp defects-postaxial polydactyly syndrome
- OMIM:181270 Scalp-Ear-Nipple syndrome
- OMIM:181430 Scapuloperoneal myopathy, myh7-related
- OMIM:300695 Scapuloperoneal myopathy, X-linked dominant
- OMIM:181405 Scapuloperoneal spinal muscular atrophy
- OMIM:181400 Scapuloperoneal syndrome, neurogenic, Kaeser type
- OMIM:615547 Schaaf-Yang syndrome
- OMIM:607016 Scheie syndrome
- OMIM:164220 Schilbach-Rott syndrome
- ORPHA:59298 Schilder disease
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:163200 Schimmelpenning-Feuerstein-Mims syndrome
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:63862 Schisis association
- OMIM:181510 Schizophrenia 1
- OMIM:269250 Schneckenbecken dysplasia
- ORPHA:3144 Schneckenbecken dysplasia
- OMIM:300977 Scholte syndrome
- OMIM:224750 Schopf-Schulz-Passarge syndrome
- OMIM:615009 Schuurs-Hoeijmakers syndrome
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:255800 Schwartz-jampel syndrome, type 1
- ORPHA:50944 Schöpf-Schulz-Passarge syndrome
- ORPHA:801 Scleroderma
- ORPHA:167635 Scleromyxedema
- ORPHA:3152 Sclerosteosis
- OMIM:269500 Sclerosteosis 1
- OMIM:614305 Sclerosteosis 2
- ORPHA:808 Seckel syndrome
- OMIM:210600 Seckel syndrome 1
- OMIM:617253 Seckel syndrome 10
- OMIM:606744 Seckel syndrome 2
- OMIM:613676 Seckel syndrome 4
- OMIM:613823 Seckel syndrome 5
- OMIM:614851 Seckel syndrome 7
- OMIM:616777 Seckel syndrome 9
- OMIM:269630 Second metatarsal-metacarpal syndrome
- ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome
- ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome
- ORPHA:79411 Self-improving dystrophic epidermolysis bullosa
- ORPHA:220386 Semilobar holoprosencephaly
- OMIM:616307 Senior-Loken syndrome 8
- OMIM:616629 Senior-Loken syndrome 9
- OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- OMIM:182230 Septooptic dysplasia
- ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- OMIM:102700 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- ORPHA:171430 Severe congenital nemaline myopathy
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia
- ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
- ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- ORPHA:2715 Severe oculo-renal-cerebellar syndrome
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- ORPHA:3162 Sézary syndrome
- OMIM:615328 Shaheen syndrome
- OMIM:617190 Shashi-Pena syndrome
- ORPHA:1147 Sheldon-Hall syndrome
- ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome
- ORPHA:1505 Short rib-polydactyly syndrome
- OMIM:615503 Short rib-polydactyly syndrome, type VI
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- OMIM:165800 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
- OMIM:618702 Short stature and microcephaly with genital anomalies
- OMIM:615789 Short stature with microcephaly and distinctive facies
- OMIM:618363 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
- OMIM:602471 Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities
- OMIM:617157 Short stature, brachydactyly, intellectual developmental disability, and seizures
- OMIM:619489 Short stature, Dauber-Argente type
- OMIM:619184 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:617763 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:619234 Short stature, oligodontia, dysmorphic facies, and motor delay
- OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
- OMIM:614800 Short stature, optic nerve atrophy, and pelger-huet anomaly
- OMIM:617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
- ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome
- ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome
- ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome
- ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency
- ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome
- ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome
- OMIM:269880 Short syndrome
- ORPHA:3163 SHORT syndrome
- ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
- ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency
- OMIM:208500 Short-Rib thoracic dysplasia 1 with or without polydactyly
- OMIM:615630 Short-Rib thoracic dysplasia 10 with or without polydactyly
- OMIM:615633 Short-Rib thoracic dysplasia 11 with or without polydactyly
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:616300 Short-Rib thoracic dysplasia 13 with or without polydactyly
- OMIM:616546 Short-Rib thoracic dysplasia 14 with polydactyly
- OMIM:617088 Short-rib thoracic dysplasia 15 with polydactyly
- OMIM:617102 Short-Rib thoracic dysplasia 16 with or without polydactyly
- OMIM:617405 Short-Rib thoracic dysplasia 17 with or without polydactyly
- OMIM:617866 Short-Rib thoracic dysplasia 18 with polydactyly
- OMIM:617895 Short-Rib thoracic dysplasia 19 with or without polydactyly
- OMIM:617925 Short-Rib thoracic dysplasia 20 with polydactyly
- OMIM:619479 Short-rib thoracic dysplasia 21 without polydactyly
- OMIM:613819 Short-Rib thoracic dysplasia 4 with or without polydactyly
- OMIM:614376 Short-Rib thoracic dysplasia 5 with or without polydactyly
- OMIM:263520 Short-Rib thoracic dysplasia 6 with or without polydactyly
- OMIM:614091 Short-Rib thoracic dysplasia 7 with or without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- ORPHA:314795 SHOX-related short stature
- OMIM:182212 Shprintzen-Goldberg craniosynostosis syndrome
- ORPHA:2462 Shprintzen-Goldberg syndrome
- OMIM:301029 Shukla-Vernon syndrome
- ORPHA:811 Shwachman-Diamond syndrome
- OMIM:260400 Shwachman-Diamond syndrome 1
- OMIM:617941 Shwachman-Diamond syndrome 2
- ORPHA:87876 Sialidosis type 2
- OMIM:269921 Sialuria
- ORPHA:3166 Sialuria
- OMIM:618635 Siddiqi syndrome
- OMIM:300263 Siderius X-linked mental retardation syndrome
- OMIM:617159 Sifrim-Hitz-Weiss syndrome
- ORPHA:3168 Sillence syndrome
- ORPHA:813 Silver-Russell syndrome
- OMIM:180860 Silver-Russell syndrome 1
- OMIM:618905 Silver-Russell syndrome 2
- OMIM:616489 Silver-Russell syndrome 3
- ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication
- ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication
- ORPHA:397590 Silver-Russell syndrome due to a point mutation
- ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15
- ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- ORPHA:398079 SIM1-related Prader-Willi-like syndrome
- OMIM:619557 SIMHA syndrome
- ORPHA:91139 Simple cryoglobulinemia
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation
- ORPHA:97337 Sinding-Larsen-Johansson disease
- OMIM:182250 Singleton-Merten syndrome 1
- ORPHA:3169 Sirenomelia
- OMIM:612447 Skeletal defects, genital hypoplasia, and mental retardation
- OMIM:602613 Skeletal dysplasia and progressive central nervous system degeneration, lethal
- OMIM:182255 Skeletal dysplasia with delayed epiphyseal and carpal bone ossification
- OMIM:618870 Skeletal dysplasia, mild, with joint laxity and advanced bone age
- ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- OMIM:156610 Skin creases, congenital symmetric circumferential, 1
- OMIM:616734 Skin creases, congenital symmetric circumferential, 2
- OMIM:607655 Skin fragility-woolly hair syndrome
- ORPHA:356961 SLC35A2-CDG
- ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:468699 SLC39A8-CDG
- OMIM:182260 Slipped femoral capital epiphyses
- OMIM:616638 Smith-Kingsmore syndrome
- ORPHA:818 Smith-Lemli-Opitz syndrome
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:182290 Smith-Magenis syndrome
- OMIM:607326 Smith-Mccort dysplasia 1
- OMIM:615222 Smith-Mccort dysplasia 2
- OMIM:618205 Snijders blok-campeau syndrome
- ORPHA:83468 Solitary bone cyst
- ORPHA:314769 Somatomammotropinoma
- OMIM:270460 Sonoda syndrome
- OMIM:618912 Sorbitol dehydrogenase deficiency with peripheral neuropathy
- ORPHA:821 Sotos syndrome
- OMIM:117550 Sotos syndrome
- OMIM:108600 Spastic ataxia 1, autosomal dominant
- OMIM:613672 Spastic ataxia 4, autosomal recessive
- OMIM:618438 Spastic ataxia 9, autosomal recessive
- OMIM:270550 Spastic ataxia, Charlevoix-Saguenay type
- OMIM:607225 Spastic paralysis, infantile-onset ascending
- OMIM:604187 Spastic paraplegia 10, autosomal dominant
- OMIM:604360 Spastic paraplegia 11, autosomal recessive
- OMIM:604805 Spastic paraplegia 12, autosomal dominant
- OMIM:605280 Spastic paraplegia 13, autosomal dominant
- OMIM:605229 Spastic paraplegia 14, autosomal recessive
- OMIM:270700 Spastic paraplegia 15, autosomal recessive
- OMIM:300266 Spastic paraplegia 16, X-linked
- OMIM:270685 Spastic paraplegia 17
- OMIM:611225 Spastic paraplegia 18, autosomal recessive
- OMIM:607152 Spastic paraplegia 19, autosomal dominant
- OMIM:312920 Spastic paraplegia 2, X-linked
- OMIM:275900 Spastic paraplegia 20, autosomal recessive
- OMIM:270750 Spastic paraplegia 23
- OMIM:609195 Spastic paraplegia 26, autosomal recessive
- OMIM:609340 Spastic paraplegia 28, autosomal recessive
- OMIM:609727 Spastic paraplegia 29, autosomal dominant
- OMIM:182600 Spastic paraplegia 3, autosomal dominant
- OMIM:610357 Spastic paraplegia 30, autosomal recessive
- OMIM:610250 Spastic paraplegia 31, autosomal dominant
- OMIM:611252 Spastic paraplegia 32, autosomal recessive
- OMIM:610244 Spastic paraplegia 33, autosomal dominant
- OMIM:612319 Spastic paraplegia 35, autosomal recessive
- OMIM:613096 Spastic paraplegia 36, autosomal dominant
- OMIM:611945 Spastic paraplegia 37, autosomal dominant
- OMIM:612335 Spastic paraplegia 38, autosomal dominant
- OMIM:612020 Spastic paraplegia 39, autosomal recessive
- OMIM:182601 Spastic paraplegia 4, autosomal dominant
- OMIM:613364 Spastic paraplegia 41, autosomal dominant
- OMIM:612539 Spastic paraplegia 42, autosomal dominant
- OMIM:615043 Spastic paraplegia 43, autosomal recessive
- OMIM:613206 Spastic paraplegia 44, autosomal recessive
- OMIM:613162 Spastic paraplegia 45, autosomal recessive
- OMIM:614409 Spastic paraplegia 46, autosomal recessive
- OMIM:614066 Spastic paraplegia 47, autosomal recessive
- OMIM:613647 Spastic paraplegia 48, autosomal recessive
- OMIM:612936 Spastic paraplegia 50, autosomal recessive
- OMIM:613744 Spastic paraplegia 51, autosomal recessive
- OMIM:614067 Spastic paraplegia 52, autosomal recessive
- OMIM:614898 Spastic paraplegia 53, autosomal recessive
- OMIM:615033 Spastic paraplegia 54, autosomal recessive
- OMIM:615035 Spastic paraplegia 55, autosomal recessive
- OMIM:615658 Spastic paraplegia 57, autosomal recessive
- OMIM:270800 Spastic paraplegia 5A, autosomal recessive
- OMIM:600363 Spastic paraplegia 6, autosomal dominant
- OMIM:615685 Spastic paraplegia 61, autosomal recessive
- OMIM:615681 Spastic paraplegia 62, autosomal recessive
- OMIM:615683 Spastic paraplegia 64, autosomal recessive
- OMIM:607259 Spastic paraplegia 7, autosomal recessive
- OMIM:615625 Spastic paraplegia 72, autosomal recessive
- OMIM:616282 Spastic paraplegia 73, autosomal dominant
- OMIM:616680 Spastic paraplegia 75, autosomal recessive
- OMIM:616907 Spastic paraplegia 76, autosomal recessive
- OMIM:617225 Spastic paraplegia 78, autosomal recessive
- OMIM:615491 Spastic paraplegia 79, autosomal recessive
- OMIM:603563 Spastic paraplegia 8, autosomal dominant
- OMIM:618418 Spastic paraplegia 80, autosomal dominant
- OMIM:618768 Spastic paraplegia 81, autosomal recessive
- OMIM:619621 Spastic paraplegia 84, autosomal recessive
- OMIM:619686 Spastic paraplegia 85, autosomal recessive
- OMIM:619735 Spastic paraplegia 86, autosomal recessive
- OMIM:601162 Spastic paraplegia 9A, autosomal dominant
- OMIM:616586 Spastic paraplegia 9B, autosomal recessive
- OMIM:616756 Spastic paraplegia and psychomotor retardation with or without seizures
- ORPHA:99013 Spastic paraplegia type 7
- OMIM:607565 Spastic paraplegia, ataxia, and mental retardation
- OMIM:617296 Spastic paraplegia, intellectual disability, nystagmus, and obesity
- OMIM:609541 Spastic paraplegia, optic atrophy, and neuropathy
- ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome
- ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome
- ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome
- OMIM:618598 Spastic tetraplegia and axial hypotonia, progressive
- OMIM:616657 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
- ORPHA:1519 SPECC1L-related hypertelorism syndrome
- OMIM:617475 Specific granule deficiency 2
- OMIM:601344 Spinal dysplasia, Anhalt type
- OMIM:271109 Spinal muscular atrophy with mental retardation
- OMIM:604320 Spinal muscular atrophy, distal, autosomal recessive, 1
- OMIM:605726 Spinal muscular atrophy, distal, autosomal recessive, 2
- OMIM:607088 Spinal muscular atrophy, distal, autosomal recessive, 3
- OMIM:611067 Spinal muscular atrophy, distal, autosomal recessive, 4
- OMIM:614881 Spinal muscular atrophy, distal, autosomal recessive, 5
- OMIM:620011 Spinal muscular atrophy, distal, autosomal recessive, 6
- OMIM:300489 Spinal muscular atrophy, distal, X-linked 3
- OMIM:619042 Spinal muscular atrophy, infantile, James type
- OMIM:615048 Spinal muscular atrophy, Jokela type
- OMIM:158600 Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant
- OMIM:615290 Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant
- OMIM:618291 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
- OMIM:271200 Spinal muscular atrophy, Ryukyuan type
- OMIM:271220 Spinal muscular atrophy, scapuloperoneal
- OMIM:183020 Spinal muscular atrophy, segmental
- OMIM:271225 Spinal muscular atrophy, type I, with congenital bone fractures
- ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- OMIM:607458 Spinocerebellar ataxia 18
- OMIM:608703 Spinocerebellar ataxia 25
- OMIM:610246 Spinocerebellar ataxia 28
- OMIM:618087 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
- OMIM:617018 Spinocerebellar ataxia 43
- OMIM:617931 Spinocerebellar ataxia 47
- OMIM:619806 Spinocerebellar ataxia 49
- ORPHA:98763 Spinocerebellar ataxia type 14
- ORPHA:98771 Spinocerebellar ataxia type 18
- ORPHA:101111 Spinocerebellar ataxia type 25
- ORPHA:98764 Spinocerebellar ataxia type 27
- ORPHA:98765 Spinocerebellar ataxia type 4
- ORPHA:497764 Spinocerebellar ataxia type 43
- ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1
- OMIM:271270 Spinocerebellar ataxia with dysmorphism
- OMIM:606002 Spinocerebellar ataxia, autosomal recessive 1
- OMIM:613728 Spinocerebellar ataxia, autosomal recessive 10
- OMIM:615705 Spinocerebellar ataxia, autosomal recessive 15
- OMIM:615768 Spinocerebellar ataxia, autosomal recessive 16
- OMIM:213200 Spinocerebellar ataxia, autosomal recessive 2
- OMIM:616354 Spinocerebellar ataxia, autosomal recessive 20
- OMIM:616719 Spinocerebellar ataxia, autosomal recessive 21
- OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31
- OMIM:607317 Spinocerebellar ataxia, autosomal recessive 4
- OMIM:608029 Spinocerebellar ataxia, autosomal recessive 6
- OMIM:610743 Spinocerebellar ataxia, autosomal recessive 8
- OMIM:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- OMIM:618387 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
- ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome
- ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome
- ORPHA:573278 Split cord malformation
- OMIM:183700 Split-Foot deformity with mandibulofacial dysostosis
- OMIM:616890 Split-Foot malformation with mesoaxial polydactyly
- ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome
- OMIM:183500 Split-Hand and split-foot with hypodontia
- OMIM:183800 Split-Hand with congenital nystagmus, fundal changes, and cataracts
- OMIM:183802 Split-Hand with obstructive uropathy, spina bifida, and diaphragmaticdefects
- OMIM:183600 Split-Hand/foot malformation 1
- OMIM:220600 Split-Hand/foot malformation 1 with sensorineural hearing loss
- OMIM:313350 Split-Hand/foot malformation 2
- OMIM:246560 Split-Hand/foot malformation 3
- OMIM:605289 Split-Hand/foot malformation 4
- OMIM:225300 Split-Hand/foot malformation 6
- OMIM:119100 Split-Hand/foot malformation with long bone deficiency 1
- ORPHA:93357 SPONASTRIME dysplasia
- OMIM:613330 Spondylo-megaepiphyseal-metaphyseal dysplasia
- ORPHA:85194 Spondylo-ocular syndrome
- OMIM:600000 SPONDYLOCAMPTODACTYLY
- ORPHA:3180 Spondylocamptodactyly syndrome
- OMIM:272460 Spondylocarpotarsal synostosis syndrome
- OMIM:609813 Spondylocostal dysostosis 3, autosomal recessive
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- OMIM:601668 Spondyloepimetaphyseal dysplasia with abnormal dentition
- OMIM:183849 Spondyloepimetaphyseal dysplasia with hypotrichosis
- ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity
- OMIM:271640 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
- OMIM:603546 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
- OMIM:618395 Spondyloepimetaphyseal dysplasia with joint laxity, type 3
- ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations
- ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type
- OMIM:612813 Spondyloepimetaphyseal dysplasia, Aggrecan type
- OMIM:608728 Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type
- OMIM:617974 Spondyloepimetaphyseal dysplasia, DI Rocco type
- OMIM:616723 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
- OMIM:610442 Spondyloepimetaphyseal dysplasia, Genevieve type
- ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type
- ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type
- OMIM:271650 Spondyloepimetaphyseal dysplasia, Irapa type
- OMIM:618728 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type
- ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type
- OMIM:602111 Spondyloepimetaphyseal dysplasia, Missouri type
- OMIM:602557 Spondyloepimetaphyseal dysplasia, Shohat type
- ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type
- OMIM:271510 Spondyloepimetaphyseal dysplasia, Sponastrime type
- OMIM:184250 Spondyloepimetaphyseal dysplasia, Strudwick type
- OMIM:300106 Spondyloepimetaphyseal dysplasia, X-linked
- OMIM:300232 Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration
- ORPHA:94068 Spondyloepiphyseal dysplasia congenita
- OMIM:183900 Spondyloepiphyseal dysplasia congenita
- ORPHA:93284 Spondyloepiphyseal dysplasia tarda
- OMIM:600093 Spondyloepiphyseal dysplasia tarda with characteristic facies
- OMIM:271620 Spondyloepiphyseal dysplasia tarda with mental retardation
- OMIM:184100 Spondyloepiphyseal dysplasia tarda, autosomal dominant
- OMIM:271600 Spondyloepiphyseal dysplasia tarda, autosomal recessive
- OMIM:609223 Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertype
- ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type
- OMIM:313400 Spondyloepiphyseal dysplasia tarda, X-linked
- OMIM:600561 Spondyloepiphyseal dysplasia with atlantoaxial instability
- OMIM:143095 Spondyloepiphyseal dysplasia with congenital joint dislocations
- ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type
- OMIM:608361 Spondyloepiphyseal dysplasia, Kimberley type
- OMIM:618392 Spondyloepiphyseal dysplasia, Kondo-Fu type
- OMIM:184095 Spondyloepiphyseal dysplasia, Maroteaux type
- OMIM:618618 Spondyloepiphyseal dysplasia, Nishimura type
- OMIM:616583 Spondyloepiphyseal dysplasia, Stanescu type
- OMIM:611717 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
- ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- OMIM:609616 Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness
- OMIM:271665 Spondylometaepiphyseal dysplasia, short Limb-Hand type
- OMIM:608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
- OMIM:618961 Spondylometaphyseal dysplasia with corneal dystrophy
- ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type
- ORPHA:168555 Spondylometaphyseal dysplasia, A4 type
- OMIM:184253 Spondylometaphyseal dysplasia, Algerian type
- OMIM:602271 Spondylometaphyseal dysplasia, axial
- OMIM:184255 Spondylometaphyseal dysplasia, corner Fracture type
- OMIM:611702 Spondylometaphyseal dysplasia, east African type
- OMIM:184252 Spondylometaphyseal dysplasia, Kozlowski type
- ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type
- OMIM:613320 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
- OMIM:619638 Spondylometaphyseal dysplasia, Pagnamenta type
- ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type
- OMIM:250220 Spondylometaphyseal dysplasia, Sedaghatian type
- ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type
- OMIM:609052 Spondylometaphyseal dysplasia, type A4
- OMIM:313420 Spondylometaphyseal dysplasia, X-linked
- ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- OMIM:605822 Spondyloocular syndrome
- OMIM:271700 Spondyloperipheral dysplasia
- ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome
- OMIM:184400 Sprengel deformity
- ORPHA:3181 Sprengel deformity
- OMIM:618156 Squalene synthase deficiency
- ORPHA:99977 Squamous cell carcinoma of the esophagus
- ORPHA:324737 SRD5A3-CDG
- ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- OMIM:617516 Stankiewicz-Isidor syndrome
- OMIM:184460 Stapes ankylosis with broad thumb and toes
- OMIM:612948 Stargardt macular degeneration, absent or hypoplastic corpus callosum,mental retardation, and dysmorphic features
- OMIM:615155 Steel syndrome
- OMIM:184705 Steinfeld syndrome
- OMIM:611961 Stevenson-Carey syndrome
- ORPHA:828 Stickler syndrome
- OMIM:108300 Stickler syndrome, type I
- OMIM:604841 Stickler syndrome, type II
- OMIM:614134 Stickler syndrome, type IV
- OMIM:620022 Stickler syndrome, type VI
- OMIM:184900 Stiff skin syndrome
- OMIM:184850 Stiff-Person syndrome
- OMIM:300434 Stocco dos santos X-linked mental retardation syndrome
- OMIM:185069 Storm syndrome
- ORPHA:50942 Striate palmoplantar keratoderma
- OMIM:243605 Stromme syndrome
- OMIM:617478 Structural heart defects and renal anomalies syndrome
- OMIM:601559 Stuve-Wiedemann syndrome
- OMIM:619751 Stuve-Wiedemann syndrome 2
- ORPHA:3206 Stüve-Wiedemann syndrome
- ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- OMIM:272150 Sugarman brachydactyly
- OMIM:618950 Suleiman-El-Hattab syndrome
- OMIM:272350 Summitt syndrome
- ORPHA:3210 Summitt syndrome
- ORPHA:455 Superficial epidermolytic ichthyosis
- ORPHA:247245 Superficial siderosis
- OMIM:265120 Surfactant metabolism dysfunction, pulmonary, 1
- OMIM:610913 Surfactant metabolism dysfunction, pulmonary, 2
- OMIM:610921 Surfactant metabolism dysfunction, pulmonary, 3
- OMIM:617746 Sweeney-Cox syndrome
- ORPHA:3243 Sweet syndrome
- ORPHA:1570 Symbrachydactyly of hands and feet
- OMIM:185600 Symphalangism of toes
- OMIM:185750 Symphalangism with multiple anomalies of hands and feet
- ORPHA:3246 Symphalangism with multiple anomalies of hands and feet
- OMIM:185650 Symphalangism, c. s. Lewis type
- OMIM:185700 Symphalangism, distal
- OMIM:606895 Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch
- OMIM:185800 Symphalangism, proximal, 1A
- OMIM:615298 Symphalangism, proximal, 1B
- ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers
- ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- ORPHA:98915 Synaptic congenital myasthenic syndromes
- ORPHA:93402 Syndactyly type 1
- ORPHA:93403 Syndactyly type 2
- ORPHA:93404 Syndactyly type 3
- ORPHA:93405 Syndactyly type 4
- ORPHA:93406 Syndactyly type 5
- OMIM:609432 Syndactyly, mesoaxial synostotic, with phalangeal reduction
- OMIM:186100 Syndactyly, type III
- OMIM:186200 Syndactyly, type IV
- OMIM:186300 Syndactyly, type V
- OMIM:186350 Syndactyly-Polydactyly-Earlobe syndrome
- ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:85274 Syndromic X-linked intellectual disability 7
- ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy
- OMIM:186400 Synostoses, tarsal, carpal, and digital
- OMIM:186550 Synostosis, carpal, with dysplastic elbow joints and brachydactyly
- OMIM:186000 Synpolydactyly 1
- OMIM:608180 Synpolydactyly 2
- OMIM:186700 Syringomyelia, isolated
- ORPHA:188 Systemic capillary leak syndrome
- ORPHA:90291 Systemic sclerosis
Code pathologie
Nom de la pathologie
- OMIM:616737 Takenouchi-Kosaki syndrome
- ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome
- ORPHA:50809 Talo-patello-scaphoid osteolysis
- OMIM:609655 Talo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals
- OMIM:186750 Talonavicular coalition
- OMIM:311900 Tarp syndrome
- ORPHA:2886 TARP syndrome
- OMIM:186850 Tarsal fusion
- ORPHA:1412 Tarsal-carpal coalition syndrome
- OMIM:186570 Tarsal-Carpal coalition syndrome
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- OMIM:615879 Tatton-Brown-Rahman syndrome
- ORPHA:845 Tay-Sachs disease
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:145420 Teebi hypertelorism syndrome 1
- OMIM:619736 Teebi hypertelorism syndrome 2
- OMIM:272950 Teebi-Shaltout syndrome
- OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum
- OMIM:187300 Telangiectasia, hereditary hemorrhagic, type 1
- OMIM:600376 Telangiectasia, hereditary hemorrhagic, type 2
- ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder
- ORPHA:254516 Temple syndrome
- OMIM:616222 Temple syndrome
- ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
- ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation
- ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion
- OMIM:611816 Temple-Baraitser syndrome
- ORPHA:420561 Temple-Baraitser syndrome
- OMIM:605282 Temtamy preaxial brachydactyly syndrome
- ORPHA:363417 Temtamy preaxial brachydactyly syndrome
- OMIM:218340 Temtamy syndrome
- ORPHA:1777 Temtamy syndrome
- OMIM:187390 Tendons, extensor, of fingers, anomalous insertion of
- OMIM:616260 Tenorio syndrome
- ORPHA:66627 Tenosynovial giant cell tumor
- OMIM:300244 Terminal osseous dysplasia
- ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome
- OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1
- OMIM:619759 Tessadori-van Haaften neurodevelopmental syndrome 2
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- OMIM:619951 Tessadori-van Haaften neurodevelopmental syndrome 4
- OMIM:273390 Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities
- OMIM:618021 Tetraamelia syndrome 2
- OMIM:273395 Tetraamelia, autosomal recessive
- ORPHA:3301 Tetraamelia-multiple malformations syndrome
- ORPHA:199310 Tetragametic chimerism
- OMIM:187500 Tetralogy of Fallot
- ORPHA:3303 Tetralogy of Fallot
- OMIM:273400 Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities
- OMIM:187510 Tetramelic monodactyly
- ORPHA:2564 Tetramelic monodactyly
- ORPHA:3305 Tetraploidy
- ORPHA:3307 Tetrasomy 18p
- ORPHA:3309 Tetrasomy 5p
- ORPHA:3310 Tetrasomy 9p
- ORPHA:9 Tetrasomy X
- OMIM:608028 Thai symphalangism syndrome
- ORPHA:3312 Thalidomide embryopathy
- ORPHA:2655 Thanatophoric dysplasia
- ORPHA:1860 Thanatophoric dysplasia type 1
- ORPHA:93274 Thanatophoric dysplasia type 2
- OMIM:273680 Thanatophoric dysplasia, glasgow variant
- OMIM:187600 Thanatophoric dysplasia, type I
- OMIM:187601 Thanatophoric dysplasia, type II
- OMIM:617107 Thauvin-Robinet-Faivre syndrome
- OMIM:613710 Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)
- OMIM:165700 Thiemann disease
- ORPHA:3314 Thiemann disease, familial form
- ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- OMIM:273730 Thoracic dysplasia-hydrocephalus syndrome
- ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome
- ORPHA:1759 Thoraco-abdominal enteric duplication
- OMIM:187760 Thoracolaryngopelvic dysplasia
- ORPHA:1803 Thoracomelic dysplasia
- OMIM:188025 Thrombocytopenia, Paris-Trousseau type
- OMIM:274190 Thumb agenesis, short stature, and immunodeficiency
- OMIM:188100 Thumb deformity
- OMIM:188150 Thumb deformity and alopecia
- ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome
- ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome
- OMIM:274205 Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness
- OMIM:188201 Thumbs, stiff, with brachydactyly type A1 and developmental delay
- ORPHA:3327 Thyrocerebrorenal syndrome
- ORPHA:79102 Thyrotoxic periodic paralysis
- OMIM:188700 Tibia vara
- OMIM:601027 Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies
- OMIM:188740 Tibia, hypoplasia or aplasia of, with polydactyly
- ORPHA:3329 Tibial aplasia-ectrodactyly syndrome
- OMIM:275220 Tibial hemimelia
- ORPHA:93322 Tibial hemimelia
- ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
- ORPHA:609 Tibial muscular dystrophy
- OMIM:188800 Tibial torsion, bilateral medial
- OMIM:601005 Timothy syndrome
- ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy
- OMIM:300707 Toe syndactyly, telecanthus, and anogenital and renal malformations
- OMIM:189230 Toes, space between first and second
- OMIM:618971 Tolchin-Le Caignec syndrome
- ORPHA:1920 Toluene embryopathy
- OMIM:300978 Tonne-Kalscheuer syndrome
- OMIM:150400 Tooth agenesis, selective, 4
- ORPHA:3339 Toriello-Lacassie-Droste syndrome
- ORPHA:857 Townes-Brocks syndrome
- OMIM:107480 Townes-Brocks syndrome 1
- ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma
- ORPHA:99886 Transient neonatal diabetes mellitus
- ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18
- ORPHA:3352 Tricho-dento-osseous syndrome
- ORPHA:1264 Tricho-retino-dento-digital syndrome
- ORPHA:3353 Trichodermodysplasia-dental alterations syndrome
- OMIM:222470 Trichohepatoenteric syndrome 1
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3
- ORPHA:502 Trichorhinophalangeal syndrome type 2
- OMIM:190350 Trichorhinophalangeal syndrome, type I
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- OMIM:190351 Trichorhinophalangeal syndrome, type III
- ORPHA:33364 Trichothiodystrophy
- OMIM:616943 Trichothiodystrophy 6, nonphotosensitive
- OMIM:619691 Trichothiodystrophy 8, nonphotosensitive
- OMIM:619692 Trichothiodystrophy 9, nonphotosensitive
- OMIM:190410 Trigger thumb
- OMIM:275595 Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalitiesof the hands and feet
- OMIM:314320 Trigonocephaly with short stature and developmental delay
- ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome
- ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8
- OMIM:190500 Triphalangeal thumb with double phalanges
- OMIM:190600 Triphalangeal thumb, nonopposable
- OMIM:190650 Triphalangeal thumbs and dislocation of patella
- OMIM:190680 Triphalangeal thumbs with brachyectrodactyly
- ORPHA:869 Triple A syndrome
- ORPHA:3376 Triploidy
- ORPHA:3377 Trismus-pseudocamptodactyly syndrome
- ORPHA:171929 Trisomy 10p
- ORPHA:1699 Trisomy 12p
- ORPHA:3378 Trisomy 13
- ORPHA:261290 Trisomy 17p
- ORPHA:3380 Trisomy 18
- ORPHA:1715 Trisomy 18p
- ORPHA:261344 Trisomy 1q
- ORPHA:261318 Trisomy 20p
- ORPHA:1738 Trisomy 4p
- ORPHA:1742 Trisomy 5p
- ORPHA:264450 Trisomy 8p
- ORPHA:1752 Trisomy 8q
- ORPHA:236 Trisomy 9p
- ORPHA:3375 Trisomy X
- OMIM:191000 Trochlea of the humerus, aplasia of
- ORPHA:75565 Tropical endomyocardial fibrosis
- ORPHA:3384 Truncus arteriosus
- OMIM:609428 Tukel syndrome
- OMIM:617993 Tumoral calcinosis, hyperphosphatemic, familial, 2
- OMIM:617994 Tumoral calcinosis, hyperphosphatemic, familial, 3
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:618371 Turnpenny-Fry syndrome
- OMIM:148500 Tylosis with esophageal cancer
- ORPHA:171436 Typical nemaline myopathy
- ORPHA:882 Tyrosinemia type 1
- ORPHA:28378 Tyrosinemia type 2
Code pathologie
Nom de la pathologie
- ORPHA:3404 Ulbright-Hodes syndrome
- OMIM:254090 Ullrich congenital muscular dystrophy 1
- OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency
- ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome
- ORPHA:1837 Ulna metaphyseal dysplasia syndrome
- OMIM:191420 Ulna metaphyseal dysplasia syndrome
- OMIM:276822 Ulnar agenesis and endocardial fibroelastosis
- ORPHA:93320 Ulnar hemimelia
- OMIM:191440 Ulnar hypoplasia
- OMIM:314360 Ulnar hypoplasia with lobster-claw deformity of feet
- OMIM:276821 Ulnar hypoplasia with mental retardation
- ORPHA:1122 Ulnar hypoplasia-split foot syndrome
- ORPHA:3138 Ulnar-mammary syndrome
- OMIM:181450 Ulnar-Mammary syndrome
- ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome
- ORPHA:2023 Undifferentiated pleomorphic sarcoma
- ORPHA:3408 Upington disease
- OMIM:191520 Upington disease
- ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome
- ORPHA:2497 Upper limb mesomelic dysplasia
- ORPHA:3409 Urban-Rogers-Meyer syndrome
- OMIM:300280 Uruguay faciocardiomusculoskeletal syndrome
- OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant
Code pathologie
Nom de la pathologie
- OMIM:276950 Vacterl association with hydrocephalus
- OMIM:314390 VACTERL association, X-linked
- ORPHA:3412 VACTERL with hydrocephalus
- ORPHA:887 VACTERL/VATER association
- OMIM:601846 Vacuolar neuromyopathy
- OMIM:277150 Van bogaert-hozay syndrome
- ORPHA:3417 Van den Bosch syndrome
- OMIM:600920 Van den Ende-Gupta syndrome
- OMIM:301030 Van Esch-O'Driscoll syndrome
- OMIM:601390 Van Maldergem syndrome 1
- OMIM:615546 Van maldergem syndrome 2
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:192350 Vater associationvacterl association, included
- ORPHA:3424 Velo-facial-skeletal syndrome
- OMIM:192430 Velocardiofacial syndrome
- OMIM:600736 Velofacioskeletal syndrome
- ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
- OMIM:192445 Ventricular extrasystoles with syncope, perodactyly, and Robin sequence
- OMIM:619501 Ventriculomegaly and arthrogryposis
- OMIM:219730 Ventriculomegaly with cystic kidney disease
- OMIM:602200 Ventriculomegaly with defects of the radius and kidney
- OMIM:615583 Verheij syndrome
- ORPHA:3429 Verloove Vanhorick-Brubakk syndrome
- OMIM:618223 Vertebral anomalies and variable endocrine and T-cell dysfunction
- OMIM:619122 Vertebral hypersegmentation and orofacial anomalies
- OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1
- OMIM:617661 Vertebral, cardiac, renal, and limb defects syndrome 2
- OMIM:618845 Vertebral, cardiac, renal, and limb defects syndrome 3
- OMIM:192950 Vertical talus, congenital
- OMIM:617982 Ververi-Brady syndrome
- OMIM:619465 Visceral neuropathy, familial, 2, autosomal recessive
- ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- OMIM:619472 VISS syndrome
- OMIM:619033 Vissers-Bodmer syndrome
- OMIM:264700 Vitamin D hydroxylation-deficient rickets, type 1A
- OMIM:600081 Vitamin D hydroxylation-deficient rickets, type 1B
- OMIM:600785 Vitamin D-dependent rickets type 2B with normal vitamin D receptor
- OMIM:619073 Vitamin d-dependent rickets, type 3
- ORPHA:1914 Vitamin K antagonist embryofetopathy
- OMIM:277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
- OMIM:619248 Vitreoretinopathy with phalangeal epiphyseal dysplasia
- ORPHA:600 Vocal cord and pharyngeal distal myopathy
- OMIM:124500 Vohwinkel syndrome
- OMIM:604117 Vohwinkel syndrome, variant form
- ORPHA:892 Von Hippel-Lindau disease
- ORPHA:903 Von Willebrand disease
- OMIM:615828 Vulto-van Silfout-de Vries syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2804 W syndrome
- ORPHA:896 Waardenburg syndrome type 3
- OMIM:148820 Waardenburg syndrome, type 3
- ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- OMIM:615170 Wahab syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- ORPHA:899 Walker-Warburg syndrome
- OMIM:600118 Warburg micro syndrome 1
- OMIM:614225 Warburg micro syndrome 2
- OMIM:614222 Warburg micro syndrome 3
- OMIM:618175 Warburg-Cinotti syndrome
- ORPHA:572798 WARS2-related combined oxidative phosphorylation defect
- OMIM:613398 Warsaw breakage syndrome
- ORPHA:3447 Weaver syndrome
- OMIM:277590 Weaver syndrome
- OMIM:615926 Webb-Dattani syndrome
- ORPHA:3449 Weill-Marchesani syndrome
- OMIM:277600 Weill-Marchesani syndrome 1
- OMIM:608328 Weill-Marchesani syndrome 2, dominant
- OMIM:614819 Weill-Marchesani syndrome 3
- OMIM:613195 Weill-Marchesani syndrome 4
- ORPHA:3344 Weismann-Netter syndrome
- OMIM:112350 Weismann-Netter syndrome
- OMIM:618619 Weiss-Kruszka syndrome
- ORPHA:902 Werner syndrome
- OMIM:193530 Weyers acrofacial dysostosis
- OMIM:602418 Weyers ulnar ray/oligodactyly syndrome
- ORPHA:3452 Whipple disease
- OMIM:277720 Whistling face syndrome, recessive form
- ORPHA:2475 White forelock with malformations
- OMIM:277740 White forelock with malformations
- ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
- OMIM:616364 White-Sutton syndrome
- OMIM:314580 Wieacker-Wolff syndrome
- OMIM:301041 Wieacker-Wolff syndrome, female-restricted
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:319182 Wiedemann-Steiner syndrome
- OMIM:605130 Wiedemann-Steiner syndrome
- ORPHA:85446 Wild type ABeta2M amyloidosis
- ORPHA:330001 Wild type ATTR amyloidosis
- ORPHA:904 Williams syndrome
- OMIM:194050 Williams-Beuren syndrome
- ORPHA:905 Wilson disease
- OMIM:277900 Wilson disease
- OMIM:309585 Wilson-Turner syndrome
- ORPHA:3459 Wilson-Turner syndrome
- OMIM:277950 Winchester syndrome
- OMIM:613406 Witteveen-Kolk syndrome
- ORPHA:1667 Wolcott-Rallison syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:280 Wolf-Hirschhorn syndrome
- OMIM:222300 Wolfram syndrome 1
- OMIM:615236 Woods syndrome
- ORPHA:79414 Woolly hair nevus
- OMIM:194300 Woolly hair, autosomal dominant
- ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
- ORPHA:2834 Wrinkly skin syndrome
- OMIM:278250 Wrinkly skin syndrome
- OMIM:194350 Wt limb-blood syndrome
Code pathologie
Nom de la pathologie
- ORPHA:96201 X small rings
- ORPHA:300373 X-linked acrogigantism
- ORPHA:43 X-linked adrenoleukodystrophy
- ORPHA:139396 X-linked cerebral adrenoleukodystrophy
- ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1
- ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2
- ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3
- ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4
- ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5
- ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6
- ORPHA:306617 X-linked complicated spastic paraplegia type 1
- ORPHA:35173 X-linked dominant chondrodysplasia punctata
- ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type
- ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:181 X-linked hypohidrotic ectodermal dysplasia
- ORPHA:89936 X-linked hypophosphatemia
- ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations
- ORPHA:85276 X-linked intellectual disability, Armfield type
- ORPHA:85293 X-linked intellectual disability, Cabezas type
- ORPHA:163971 X-linked intellectual disability, Cilliers type
- ORPHA:93952 X-linked intellectual disability, Hedera type
- ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:85322 X-linked intellectual disability, Pai type
- ORPHA:85285 X-linked intellectual disability, Schimke type
- ORPHA:85287 X-linked intellectual disability, Siderius type
- ORPHA:3063 X-linked intellectual disability, Snyder type
- ORPHA:85325 X-linked intellectual disability, Stevenson type
- ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type
- ORPHA:85326 X-linked intellectual disability, Stoll type
- ORPHA:163976 X-linked intellectual disability, Van Esch type
- ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome
- ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
- ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
- ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:363654 X-linked parkinsonism-spasticity syndrome
- ORPHA:1175 X-linked progressive cerebellar ataxia
- ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome
- ORPHA:100997 X-linked spastic paraplegia type 16
- ORPHA:171607 X-linked spastic paraplegia type 34
- OMIM:278780 Xeroderma pigmentosum, complementation group G
- OMIM:610965 XFE progeroid syndrome
- ORPHA:3469 XK aprosencephaly syndrome
- ORPHA:261476 Xp21 deletion syndrome
- ORPHA:284180 Xp22.13p22.2 duplication syndrome
- ORPHA:314389 Xq12-q13.3 duplication syndrome
- ORPHA:1435 Xq21 microdeletion syndrome
- ORPHA:261483 Xq27.3q28 duplication syndrome
- ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome
- ORPHA:370930 XYLT1-CDG
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- OMIM:619648 Zaki syndrome
- ORPHA:97240 Zebra body myopathy
- OMIM:612916 Zechi-Ceide syndrome
- ORPHA:217017 Zechi-Ceide syndrome
- ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies
- ORPHA:448237 Zika virus disease
- ORPHA:3473 Zimmermann-Laband syndrome
- OMIM:135500 Zimmermann-Laband syndrome 1
- OMIM:618658 Zimmermann-Laband syndrome 3
- OMIM:617140 Zttk syndrome
- OMIM:280000 Zunich neuroectodermal syndrome
Gènes associés :
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Nom du gène
- AAAS
- AAGAB
- AARS1
- ABCA12
- ABCA3
- ABCC8
- ABCC9
- ABCD1
- ABHD12
- ABHD16A
- ABHD5
- ABL1
- ACAN
- ACOX1
- ACP5
- ACSL4
- ACTA1
- ACTA2
- ACTB
- ACTC1
- ACTG1
- ACTG2
- ACTL6B
- ACTN2
- ACVR1
- ACVRL1
- ADA
- ADA2
- ADAMTS10
- ADAMTS17
- ADAMTS2
- ADAMTS3
- ADAMTSL1
- ADAMTSL2
- ADAR
- ADAT3
- ADCY5
- ADGRG1
- ADGRG6
- ADGRV1
- ADH5
- ADK
- ADNP
- ADPRS
- ADSS1
- AEBP1
- AFF3
- AFF4
- AFG3L2
- AGA
- AGGF1
- AGO2
- AGPAT2
- AGPS
- AGRN
- AHCY
- AHI1
- AHSG
- AIFM1
- AIP
- AK9
- AKT1
- AKT2
- AKT3
- ALAD
- ALB
- ALDH18A1
- ALDH1A2
- ALDH6A1
- ALG11
- ALG12
- ALG13
- ALG14
- ALG2
- ALG3
- ALG6
- ALG8
- ALG9
- ALMS1
- ALOX12B
- ALOXE3
- ALPL
- ALS2
- ALX1
- ALX3
- ALX4
- AMER1
- AMMECR1
- AMPD1
- AMPD3
- ANAPC1
- ANK1
- ANKH
- ANKLE2
- ANKRD1
- ANKRD11
- ANKRD55
- ANO1
- ANO10
- ANO5
- ANOS1
- ANTXR1
- ANTXR2
- ANXA11
- AP1B1
- AP1G1
- AP2M1
- AP3B1
- AP3B2
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- AP5Z1
- APC
- APC2
- APTX