Liste des examens
Abnormality of the eye
Code Aire thérapeutique (HPO) :
HP:0000478Panel par pathologie associée :
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Code pathologie
Nom de la pathologie
- ORPHA:276413 10q22.3q23.3 microdeletion syndrome
- ORPHA:276422 10q22.3q23.3 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:199318 15q13.3 microdeletion syndrome
- ORPHA:261190 15q14 microdeletion syndrome
- ORPHA:94065 15q24 microdeletion syndrome
- ORPHA:261211 16p11.2p12.2 microdeletion syndrome
- ORPHA:261204 16p11.2p12.2 microduplication syndrome
- ORPHA:485405 16p12.1p12.3 triplication syndrome
- ORPHA:261236 16p13.11 microdeletion syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:261250 16q24.3 microdeletion syndrome
- ORPHA:1713 17p11.2 microduplication syndrome
- ORPHA:217385 17p13.3 microduplication syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:261272 17q12 microduplication syndrome
- ORPHA:363958 17q21.31 microdeletion 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:293948 1p21.3 microdeletion syndrome
- ORPHA:401986 1p31p32 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:238769 1q44 microdeletion syndrome
- OMIM:616034 2,4-Dienoyl-Coa reductase deficiency
- OMIM:610006 2-Methylbutyryl-Coa dehydrogenase deficiency
- 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:1727 22q11.2 duplication syndrome
- ORPHA:261349 2p15p16.1 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:610198 3-@methylglutaconic aciduria, type V
- OMIM:250620 3-Hydroxyisobutyryl-Coa hydrolase deficiency
- ORPHA:67047 3-methylglutaconic aciduria type 3
- ORPHA:67048 3-methylglutaconic aciduria type 4
- ORPHA:445038 3-methylglutaconic aciduria type 7
- ORPHA:505216 3-methylglutaconic aciduria type 9
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- OMIM:614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
- OMIM:250950 3-methylglutaconic aciduria, type I
- OMIM:258501 3-methylglutaconic aciduria, type III
- OMIM:617698 3-methylglutaconic aciduria, type IX
- OMIM:617248 3-methylglutaconic aciduria, type VIII
- ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- ORPHA:7 3C 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:289494 4H leukodystrophy
- ORPHA:238750 4q21 microdeletion syndrome
- ORPHA:228384 5q14.3 microdeletion syndrome
- ORPHA:228415 5q35 microduplication syndrome
- ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency
- ORPHA:251046 6p22 microdeletion syndrome
- ORPHA:75857 6q terminal deletion syndrome
- ORPHA:171829 6q16 microdeletion syndrome
- ORPHA:251056 6q25 microdeletion syndrome
- ORPHA:314034 7p22.1 microduplication 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:508488 8q24.3 microdeletion syndrome
- ORPHA:324313 9p13 microdeletion syndrome
- ORPHA:531151 9q21.13 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
- ORPHA:178333 Åland Islands eye disease
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
- OMIM:600501 ABCD syndrome
- OMIM:100200 Abducens palsy
- OMIM:200100 ABETALIPOPROTEINEMIA
- ORPHA:14 Abetalipoproteinemia
- ORPHA:920 Ablepharon macrostomia syndrome
- OMIM:200110 Ablepharon-Macrostomia syndrome
- ORPHA:921 Abruzzo-Erickson syndrome
- ORPHA:2310 Absence deformity of leg-cataract syndrome
- OMIM:200130 Absent eyebrows and eyelashes with mental retardation
- ORPHA:945 Acalvaria
- OMIM:619959 ACCES syndrome
- OMIM:604290 ACERULOPLASMINEMIA
- ORPHA:48818 Aceruloplasminemia
- ORPHA:99736 Acetazolamide-responsive myotonia
- OMIM:200400 Achalasia, familial esophageal
- OMIM:231550 Achalasia-Addisonianism-Alacrima syndrome
- OMIM:200450 Achalasia-Microcephaly syndrome
- ORPHA:93296 Achondrogenesis type 2
- OMIM:200610 Achondrogenesis, type II
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- ORPHA:49382 Achromatopsia
- OMIM:216900 Achromatopsia 2
- OMIM:262300 Achromatopsia 3
- OMIM:613856 Achromatopsia 4
- OMIM:616517 Achromatopsia 7
- ORPHA:40366 Acitretin/etretinate embryopathy
- OMIM:200970 Ackerman syndrome
- ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage
- ORPHA:263534 Acral peeling skin syndrome
- ORPHA:959 Acro-renal-ocular syndrome
- OMIM:200990 Acrocallosal syndrome
- ORPHA:36 Acrocallosal syndrome
- ORPHA:2008 Acrocardiofacial syndrome
- OMIM:200995 Acrocephalopolydactylous dysplasia
- ORPHA:221054 Acrocephalopolydactyly
- OMIM:201050 Acrocraniofacial dysostosis
- ORPHA:949 Acrocraniofacial dysostosis
- ORPHA:37 Acrodermatitis enteropathica
- 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
- OMIM:201170 Acrofacial dysostosis syndrome of rodriguez
- ORPHA:1784 Acrofrontofacionasal dysostosis
- OMIM:201180 Acrofrontofacionasal dysostosis 1
- OMIM:239710 Acrofrontofacionasal dysostosis 2
- OMIM:102100 Acromegaloid changes, cutis verticis gyrata, and corneal leukoma
- OMIM:603671 Acromelic frontonasal dysostosis
- ORPHA:1827 Acromelic frontonasal dysplasia
- ORPHA:2980 Acrootoocular syndrome
- ORPHA:971 Acrorenal syndrome
- ORPHA:529799 Acute bilirubin encephalopathy
- ORPHA:83597 Acute disseminated encephalomyelitis
- ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion
- ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ORPHA:284454 Acute zonal occult outer retinopathy
- OMIM:201470 Acyl-Coa dehydrogenase, short-chain, deficiency of
- ORPHA:974 Adams-Oliver syndrome
- OMIM:100300 Adams-Oliver syndrome 1
- OMIM:614219 Adams-Oliver syndrome 2
- OMIM:615297 Adams-Oliver syndrome 4
- ORPHA:95512 Adenohypophysitis
- OMIM:175100 Adenomatous polyposis coli
- OMIM:103050 Adenylosuccinase deficiency
- OMIM:103100 Adie pupil
- ORPHA:404448 ADNP syndrome
- OMIM:300100 Adrenoleukodystrophy
- ORPHA:977 Adrenomyodystrophy
- OMIM:300270 ADRENOMYODYSTROPHY
- ORPHA:178487 Adult intestinal botulism
- ORPHA:206448 Adult Krabbe disease
- ORPHA:79262 Adult neuronal ceroid lipofuscinosis
- OMIM:103285 Adult syndrome
- ORPHA:99027 Adult-onset autosomal dominant leukodystrophy
- ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia
- ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:199351 Adult-onset dystonia-parkinsonism
- ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy
- ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- ORPHA:3385 African trypanosomiasis
- OMIM:601495 Agammaglobulinemia 1, autosomal recessive
- OMIM:613506 Agammaglobulinemia 5, autosomal dominant
- OMIM:612692 Agammaglobulinemia 6, autosomal recessive
- OMIM:619824 Agammaglobulinemia 8B, autosomal recessive
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:85448 AGel amyloidosis
- OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- OMIM:218000 Agenesis of the corpus callosum with peripheral neuropathy
- ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome
- OMIM:202650 Agnathia-Otocephaly complex
- ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- ORPHA:250977 AICA-ribosiduria
- OMIM:608688 Aicar transformylase/imp cyclohydrolase deficiency
- ORPHA:50 Aicardi syndrome
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:610329 Aicardi-Goutieres syndrome 3
- OMIM:615010 Aicardi-Goutieres syndrome 6
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619486 Aicardi-Goutieres syndrome 8
- 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
- OMIM:601549 ALACRIMA
- OMIM:615510 Alacrima, achalasia, and mental retardation syndrome
- OMIM:103420 Alacrima, congenital
- ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:52 Alagille syndrome
- OMIM:118450 Alagille syndrome 1
- OMIM:300600 Aland island eye disease
- ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome
- ORPHA:319671 Alazami syndrome
- OMIM:615071 Alazami syndrome
- ORPHA:53 Albers-Schönberg osteopetrosis
- OMIM:300500 Albinism, ocular, type I
- OMIM:300650 Albinism, ocular, with late-onset sensorineural deafness
- OMIM:203100 Albinism, oculocutaneous, type IA
- OMIM:606952 Albinism, oculocutaneous, type IB
- OMIM:203200 Albinism, oculocutaneous, type II
- OMIM:203290 Albinism, oculocutaneous, type III
- OMIM:606574 Albinism, oculocutaneous, type IV
- OMIM:615312 Albinism, oculocutaneous, type V
- OMIM:615179 Albinism, oculocutaneous, type V
- OMIM:113750 Albinism, oculocutaneous, type VI
- OMIM:300700 Albinism-Deafness syndrome
- ORPHA:998 Albinism-deafness syndrome
- ORPHA:35664 ALDH18A1-related De Barsy syndrome
- ORPHA:58 Alexander disease
- OMIM:203450 Alexander disease
- ORPHA:363722 Alexander disease type II
- ORPHA:79327 ALG1-CDG
- ORPHA:280071 ALG11-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:324422 ALG13-CDG
- ORPHA:79326 ALG2-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:203550 Alopecia-Contractures-Dwarfism mental retardation syndrome
- ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome
- ORPHA:2850 Alopecia-intellectual disability syndrome
- ORPHA:726 Alpers-Huttenlocher syndrome
- ORPHA:399058 Alpha-B crystallin-related late-onset myopathy
- OMIM:248500 Alpha-mannosidosis
- ORPHA:61 Alpha-mannosidosis
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- OMIM:614307 Alpha-methylacyl-CoA racemase deficiency
- ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1
- ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2
- ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3
- 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:63 Alport syndrome
- OMIM:203780 Alport syndrome 2, autosomal recessive
- OMIM:104200 Alport syndrome 3, autosomal dominant
- OMIM:301050 Alport 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
- OMIM:104290 Alternating hemiplegia of childhood 1
- OMIM:614820 Alternating hemiplegia of childhood 2
- OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- OMIM:619268 Alzahrani-Kuwahara syndrome
- OMIM:104350 Amastia, bilateral, with ureteral triplication and dysmorphism
- OMIM:204110 Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- ORPHA:1021 Amaurosis-hypertrichosis syndrome
- OMIM:609924 Aminoacylase 1 deficiency
- OMIM:600325 Aminopterin syndrome sine aminopterin
- ORPHA:1908 Aminopterin/methotrexate embryofetopathy
- ORPHA:99742 Amish lethal microcephaly
- OMIM:300194 AMME complex
- ORPHA:68 Amoebiasis due to free-living amoebae
- ORPHA:67043 Amoebic keratitis
- OMIM:204850 Amyloidosis of gingiva and conjunctiva, with mental retardation
- OMIM:105120 Amyloidosis, Finnish type
- OMIM:105210 Amyloidosis, hereditary, transthyretin-related
- OMIM:105250 Amyloidosis, primary localized cutaneous, 1
- OMIM:105300 Amyotrophic dystonic paraplegia
- OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile
- OMIM:162100 Amyotrophy, hereditary neuralgic
- OMIM:607095 Anauxetic dysplasia 1
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- ORPHA:37553 Andersen-Tawil syndrome
- OMIM:619452 Anencephaly 2
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- OMIM:105830 Angelman syndrome
- ORPHA:72 Angelman syndrome
- ORPHA:411511 Angelman syndrome due to a point mutation
- ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13
- ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion
- ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15
- ORPHA:95429 Angioma serpiginosum
- OMIM:106070 Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included
- OMIM:206570 Angiomatosis, diffuse corticomeningeal, of divry and van bogaert
- ORPHA:2346 Angioosteohypertrophic syndrome
- OMIM:611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
- ORPHA:74 Angiostrongyliasis
- OMIM:106210 Aniridia
- OMIM:617141 Aniridia 2
- OMIM:617142 Aniridia 3
- OMIM:106220 Aniridia and absent patella
- OMIM:106230 Aniridia, microcornea, and spontaneously reabsorbed cataract
- OMIM:206750 Aniridia, partial, with unilateral renal agenesis and psychomotorretardation
- ORPHA:1069 Aniridia-absent patella syndrome
- ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
- ORPHA:1068 Aniridia-intellectual disability syndrome
- ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome
- ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:69125 Anonychia with flexural pigmentation
- ORPHA:1104 Anophthalmia plus syndrome
- ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome
- OMIM:601427 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
- OMIM:107250 Anterior segment dysgenesis 1
- OMIM:610256 Anterior segment dysgenesis 2
- OMIM:601631 Anterior segment dysgenesis 3
- OMIM:604229 Anterior segment dysgenesis 5, multiple subtypes
- OMIM:617315 Anterior segment dysgenesis 6, multiple subtypes
- OMIM:617319 Anterior segment dysgenesis 8
- ORPHA:375 Anti-glomerular basement membrane disease
- OMIM:107320 Antiphospholipid syndrome, familial
- ORPHA:81 Antisynthetase syndrome
- 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:617168 Aortic aneurysm, familial thoracic 10
- OMIM:619825 Aortic aneurysm, familial thoracic 12
- OMIM:132900 Aortic aneurysm, familial thoracic 4
- OMIM:611788 Aortic aneurysm, familial thoracic 6
- OMIM:107550 Aortic arch interruption, facial palsy, and retinal coloboma
- ORPHA:247806 APC-related attenuated familial adenomatous polyposis
- OMIM:101200 Apert syndrome
- ORPHA:87 Apert syndrome
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- OMIM:601075 Aplasia cutis congenita, high myopia, and cone-rod dysfunction
- ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- ORPHA:1117 Aplasia cutis-myopia syndrome
- ORPHA:425 Apolipoprotein A-I deficiency
- OMIM:207750 Apolipoprotein C-II deficiency
- OMIM:218030 Apparent mineralocorticoid excess
- ORPHA:320 Apparent mineralocorticoid excess
- OMIM:601374 Aprosencephaly and cerebellar dysgenesis
- ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome
- ORPHA:2356 Arachnoid cyst
- ORPHA:137817 Arachnoiditis
- OMIM:616268 Arboleda-Tham syndrome
- OMIM:243910 Arima syndrome
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:1136 Arnold-Chiari malformation type II
- OMIM:608643 Aromatic L-amino acid decarboxylase deficiency
- ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:208050 Arterial tortuosity syndrome
- OMIM:208060 Arteriosclerosis, severe juvenile
- OMIM:108050 Arteritis, familial granulomatous, with juvenile polyarthritis
- 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:618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
- OMIM:617468 Arthrogryposis multiplex congenita, neurogenic, with myelin defect
- OMIM:108120 Arthrogryposis, distal, type 1A
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:618436 Arthrogryposis, distal, type 2B3
- 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:614262 Arthrogryposis, perthes disease, and upward gaze palsy
- ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- OMIM:301835 Arts syndrome
- ORPHA:1253 Ascher syndrome
- OMIM:208300 Ascites, chylous
- OMIM:615574 Asparagine synthetase deficiency
- ORPHA:93 Aspartylglucosaminuria
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:1163 Aspergillosis
- OMIM:108450 Asymmetric short stature syndrome
- ORPHA:96 Ataxia with vitamin E deficiency
- OMIM:208920 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- OMIM:619352 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
- OMIM:609033 Ataxia, posterior column, with retinitis pigmentosa
- OMIM:270500 Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
- ORPHA:1188 Ataxia-deafness-intellectual disability syndrome
- ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome
- ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- OMIM:208870 Ataxia-Microcephaly-Cataract syndrome
- OMIM:615217 Ataxia-Oculomotor apraxia 3
- OMIM:616267 Ataxia-Oculomotor apraxia 4
- ORPHA:459033 Ataxia-oculomotor apraxia type 4
- OMIM:159550 Ataxia-Pancytopenia syndrome
- ORPHA:2585 Ataxia-pancytopenia syndrome
- ORPHA:1184 Ataxia-photosensitivity-short stature syndrome
- ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- 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
- OMIM:108720 Atelosteogenesis, type I
- OMIM:601536 Athabaskan brainstem dysgenesis syndrome
- OMIM:300431 Atkin-Flaitz syndrome
- ORPHA:1193 Atkin-Flaitz syndrome
- ORPHA:163934 Atopic keratoconjunctivitis
- ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis
- ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- OMIM:600123 Atrioventricular septal defect with blepharophimosis and anal andradial defects
- OMIM:601341 Atrophia maculosa varioliformis cutis, familial
- ORPHA:352723 Attenuated Chédiak-Higashi syndrome
- ORPHA:220460 Attenuated familial adenomatous polyposis
- ORPHA:85447 ATTRV30M amyloidosis
- ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration
- ORPHA:99750 Atypical progressive supranuclear palsy syndrome
- ORPHA:3095 Atypical Rett syndrome
- ORPHA:79474 Atypical Werner syndrome
- OMIM:616580 Au-Kline syndrome
- OMIM:617717 Auditory neuropathy and optic atrophy
- ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- ORPHA:137888 Auriculocondylar syndrome
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- ORPHA:36913 Autoimmune hypoparathyroidism
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:269200 Autoimmune polyendocrine syndrome, type II
- OMIM:240300 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
- ORPHA:3453 Autoimmune polyendocrinopathy type 1
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:614878 Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
- OMIM:301081 Autoinflammatory disease, systemic, X-linked
- OMIM:616744 Autoinflammatory syndrome, familial, Behcet-like
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:99 Autosomal dominant cerebellar ataxia
- ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia
- ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:312 Autosomal dominant epidermolytic ichthyosis
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:428 Autosomal dominant hypocalcemia
- ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome
- ORPHA:2334 Autosomal dominant keratitis
- 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:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia
- ORPHA:2514 Autosomal dominant primary microcephaly
- 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:100994 Autosomal dominant spastic paraplegia type 13
- ORPHA:320365 Autosomal dominant spastic paraplegia type 36
- ORPHA:447753 Autosomal dominant spastic paraplegia type 9A
- ORPHA:447757 Autosomal dominant spastic paraplegia type 9B
- 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: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:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome
- ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3
- OMIM:600142 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
- ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome
- ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
- 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:1974 Autosomal recessive faciodigitogenital syndrome
- ORPHA:329329 Autosomal recessive frontotemporal pachygyria
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- 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:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia
- ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:1507 Autosomal recessive Robinow syndrome
- ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy
- ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- ORPHA:2822 Autosomal recessive spastic paraplegia type 11
- 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:101005 Autosomal recessive spastic paraplegia type 25
- ORPHA:101006 Autosomal recessive spastic paraplegia type 26
- ORPHA:171629 Autosomal recessive spastic paraplegia type 35
- 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: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:401830 Autosomal recessive spastic paraplegia type 69
- ORPHA:468661 Autosomal recessive spastic paraplegia type 74
- ORPHA:459056 Autosomal recessive spastic paraplegia type 75
- 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:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- ORPHA:250984 Autosomal recessive Stickler syndrome
- ORPHA:101010 Autosomal spastic paraplegia type 30
- ORPHA:397946 Autosomal spastic paraplegia type 58
- ORPHA:454836 Avian influenza
- OMIM:109120 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
- ORPHA:782 Axenfeld-Rieger syndrome
- OMIM:180500 Axenfeld-Rieger syndrome, type 1
- OMIM:601499 Axenfeld-rieger syndrome, type 2
- OMIM:602482 Axenfeld-Rieger syndrome, type 3
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- ORPHA:168549 Axial spondylometaphyseal dysplasia
- 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:79332 B4GALT1-CDG
- ORPHA:108 Babesiosis
- 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
- OMIM:251290 Band-Like calcification with simplified gyration and polymicrogyria
- ORPHA:1227 Bangstad syndrome
- OMIM:210740 Bangstad 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:614583 Baraitser-Winter syndrome 2
- OMIM:619255 Baralle-Macken syndrome
- OMIM:209885 Barber-Say syndrome
- ORPHA:1231 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:604571 Bare lymphocyte syndrome, type I
- OMIM:302060 Barth syndrome
- ORPHA:1234 Bartsocas-Papas syndrome
- OMIM:241200 Bartter syndrome, type 2
- OMIM:607364 Bartter syndrome, type 3
- OMIM:109400 Basal cell nevus syndrome
- OMIM:615007 Basal ganglia calcification, idiopathic, 4
- OMIM:618317 Basal ganglia calcification, idiopathic, 7, autosomal recessive
- OMIM:618824 Basal ganglia calcification, idiopathic, 8, autosomal recessive
- OMIM:126700 Basal laminar drusen
- OMIM:616449 Basel-Vanagaite-Smirin-Yosef syndrome
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- OMIM:109500 Basilar impression, primary
- OMIM:301032 Basilicata-Akhtar syndrome
- OMIM:123790 Beare-Stevenson cutis gyrata syndrome
- OMIM:613680 Beaulieu-Boycott-Innes syndrome
- OMIM:618798 Beck-Fahrner syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:117 Behçet disease
- OMIM:109650 Behcet syndrome
- OMIM:210000 Behr syndrome
- ORPHA:1241 Bencze syndrome
- ORPHA:25968 Benign occipital epilepsy
- ORPHA:1179 Benign paroxysmal tonic upgaze of childhood with ataxia
- ORPHA:324581 Benign Samaritan congenital myopathy
- ORPHA:252164 Benign schwannoma
- OMIM:614592 Bent bone dysplasia syndrome
- ORPHA:1243 Best vitelliform macular dystrophy
- OMIM:611809 Bestrophinopathy, autosomal recessive
- ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria
- ORPHA:329284 Beta-propeller protein-associated neurodegeneration
- ORPHA:79138 Bickerstaff brainstem encephalitis
- OMIM:210350 Biemond syndrome II
- ORPHA:141333 Biemond syndrome type 2
- OMIM:210370 Bietti crystalline corneoretinal dystrophy
- ORPHA:41751 Bietti crystalline dystrophy
- ORPHA:2695 Bifid nose
- OMIM:109740 Bifid nose, autosomal dominant
- ORPHA:69736 Bilateral acute depigmentation of the iris
- ORPHA:101070 Bilateral frontoparietal polymicrogyria
- ORPHA:208447 Bilateral generalized polymicrogyria
- ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria
- ORPHA:98889 Bilateral perisylvian polymicrogyria
- ORPHA:268940 Bilateral polymicrogyria
- ORPHA:1980 Bilateral striopallidodentate calcinosis
- OMIM:617308 Bile acid synthesis defect, congenital, 6
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:79241 Biotinidase deficiency
- OMIM:253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset
- OMIM:605808 Birdshot chorioretinopathy
- ORPHA:179 Birdshot chorioretinopathy
- OMIM:617595 Birk-Landau-Perez syndrome
- ORPHA:122 Birt-Hogg-Dubé syndrome
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:191800 Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
- 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:110100 Blepharophimosis, epicanthus inversus, and ptosis
- OMIM:619293 Blepharophimosis-impaired intellectual development syndrome
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome
- ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- OMIM:110150 Blepharoptosis, myopia, and ectopia lentis
- ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome
- ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- ORPHA:125 Bloom syndrome
- OMIM:303700 Blue cone monochromacy
- ORPHA:16 Blue cone monochromatism
- ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness
- OMIM:617052 Bone marrow failure syndrome 3
- ORPHA:1261 Bonnemann-Meinecke-Reich syndrome
- OMIM:600257 Bor-Duane hydrocephalus contiguous gene syndrome
- OMIM:301900 Borjeson-Forssman-Lehmann syndrome
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:300843 Bornholm eye disease
- OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome
- OMIM:603457 Bosma arhinia microphthalmia syndrome
- OMIM:607475 Bothnia retinal dystrophy
- ORPHA:85128 Bothnia retinal dystrophy
- ORPHA:1267 Botulism
- OMIM:215470 Boucher-Neuhauser syndrome
- OMIM:619543 Boudin-Mortier syndrome
- ORPHA:83313 Boutonneuse fever
- OMIM:601357 Brachial amelia, cleft lip, and holoprosencephaly
- OMIM:601353 Brachycephaly, deafness, cataract, microstomia, and mental retardation
- OMIM:617412 Brachycephaly, trichomegaly, and developmental delay
- OMIM:610023 Brachydactyly, coloboma, and anterior segment dysgenesis
- OMIM:613627 Brachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation
- OMIM:611377 Brachydactyly, type B2
- OMIM:113400 Brachydactyly-Nystagmus-Cerebellar ataxia
- ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome
- ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome
- 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:619981 Braddock-Carey syndrome 2
- OMIM:608415 BRADYOPSIA
- ORPHA:75374 Bradyopsia
- OMIM:618476 Brain abnormalities, neurodegeneration, and dysosteosclerosis
- ORPHA:352649 Brain dopamine-serotonin vesicular transport disease
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- OMIM:175780 Brain small vessel disease 1 with or without ocular anomalies
- OMIM:614483 Brain small vessel disease 2
- OMIM:113610 Branchial myoclonus with spastic paraparesis and cerebellar ataxia
- 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
- ORPHA:85284 BRESEK syndrome
- ORPHA:90354 Brittle cornea syndrome
- OMIM:229200 Brittle cornea syndrome
- OMIM:614170 Brittle cornea syndrome 2
- ORPHA:79493 Brooke-Spiegler syndrome
- OMIM:616407 Brown syndrome
- OMIM:211530 Brown-Vialetto-Van laere syndrome 1
- OMIM:614707 Brown-Vialetto-Van laere syndrome 2
- ORPHA:1304 Brucellosis
- OMIM:259450 Bruck syndrome 1
- OMIM:619690 Brunet-Wagner neurodevelopmental syndrome
- OMIM:619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1
- OMIM:211500 Bulbar palsy, progressive, of childhood
- OMIM:619314 Buratti-Harel syndrome
- ORPHA:1200 Burn-McKeown syndrome
- OMIM:608572 Burn-Mckeown syndrome
- ORPHA:1306 Buschke-Ollendorff syndrome
Code pathologie
Nom de la pathologie
- ORPHA:1308 C syndrome
- OMIM:211750 C syndrome
- ORPHA:329918 C3 glomerulopathy
- ORPHA:135 CACH syndrome
- OMIM:114030 Cafe-Au-Lait spots, multiple
- ORPHA:1310 Caffey disease
- OMIM:211770 Cahmr syndrome
- ORPHA:83472 CAMOS syndrome
- ORPHA:1318 Campomelia, Cumming type
- OMIM:114290 Campomelic dysplasia
- ORPHA:140 Campomelic dysplasia
- ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1
- 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
- ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome
- OMIM:131300 Camurati-Engelmann disease
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:271900 Canavan disease
- ORPHA:141 Canavan disease
- ORPHA:71505 Cancer-associated retinopathy
- OMIM:615527 Candidiasis, familial, 8
- ORPHA:100093 Carcinoid syndrome
- OMIM:314400 Cardiac valvular dysplasia, X-linked
- OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- OMIM:619143 Cardioacrofacial dysplasia 2
- ORPHA:2872 Cardiocranial syndrome, Pfeiffer type
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:615278 Cardiofaciocutaneous syndrome 2
- OMIM:615279 Cardiofaciocutaneous syndrome 3
- OMIM:615280 Cardiofaciocutaneous syndrome 4
- OMIM:619123 Cardiofacioneurodevelopmental syndrome
- OMIM:615184 Cardiomyopathy, dilated, 1II
- ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome
- OMIM:157800 Cardiospondylocarpofacial syndrome
- ORPHA:1358 Carey-Fineman-Ziter syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- ORPHA:97355 Caribbean parkinsonism
- OMIM:160980 Carney complex, type 1
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- ORPHA:159 Carnitine-acylcarnitine translocase deficiency
- ORPHA:65759 Carpenter syndrome
- OMIM:201000 Carpenter syndrome 1
- OMIM:614976 Carpenter syndrome 2
- ORPHA:175 Cartilage-hair hypoplasia
- OMIM:115470 Cat eye syndrome
- ORPHA:195 Cat-eye syndrome
- OMIM:116200 Cataract 1, multiple types
- OMIM:610623 Cataract 11, multiple types
- OMIM:116700 Cataract 13 with adult i phenotype
- OMIM:615274 Cataract 15, multiple types
- OMIM:613763 Cataract 16, multiple types
- OMIM:611544 Cataract 17, multiple types
- OMIM:615277 Cataract 19, multiple types
- OMIM:604307 Cataract 2, multiple types
- OMIM:610202 Cataract 21, multiple types
- OMIM:609741 Cataract 22, multiple types
- OMIM:610425 Cataract 23
- OMIM:601547 Cataract 3, multiple types
- OMIM:116300 Cataract 30, multiple types
- OMIM:605387 Cataract 31, multiple types
- OMIM:611391 Cataract 33, multiple types
- OMIM:609376 Cataract 35
- OMIM:115900 Cataract 42
- OMIM:616279 Cataract 43
- OMIM:616509 Cataract 44
- OMIM:616851 Cataract 45
- OMIM:212500 Cataract 46, juvenile-onset
- OMIM:618415 Cataract 48
- OMIM:619593 Cataract 49
- OMIM:115660 Cataract 7
- OMIM:604219 Cataract 9, multiple types
- OMIM:212400 Cataract and congenital ichthyosis
- OMIM:601371 Cataract, age-related nuclear
- OMIM:115650 Cataract, anterior polar, 1
- OMIM:601202 Cataract, anterior polar, 2
- OMIM:300619 Cataract, ataxia, short stature, and mental retardation
- OMIM:611597 Cataract, autosomal dominant, multiple types 1
- OMIM:610019 Cataract, autosomal recessive congenital 2
- OMIM:613887 Cataract, autosomal recessive congenital 4
- OMIM:614691 Cataract, autosomal recessive congenital 5
- OMIM:302200 Cataract, congenital total, with posterior sutural opacities in heterozygotes
- OMIM:600881 Cataract, congenital zonular, with sutural opacities
- OMIM:614422 Cataract, congenital, cerulean type, 5
- OMIM:115665 Cataract, congenital, Volkmann type
- OMIM:607674 Cataract, congenital, with mental impairment and dentate gyrus atrophy
- OMIM:115700 Cataract, crystalline aculeiform
- OMIM:115800 Cataract, crystalline coralliform
- OMIM:612018 Cataract, juvenile, with microcornea and glucosuria
- OMIM:116800 Cataract, lamellar
- OMIM:116100 Cataract, membranous
- OMIM:212540 Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
- OMIM:615188 Cataract, multiple types
- OMIM:116400 Cataract, nuclear total
- OMIM:116600 Cataract, posterior polar, 1 ctpa cataract, congenital total, included
- OMIM:601885 Cataract, zonular pulverulent 3
- ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome
- ORPHA:1368 Cataract-ataxia-deafness syndrome
- OMIM:212710 Cataract-Ataxia-Deafness-Retardation syndrome
- ORPHA:1383 Cataract-deafness-hypogonadism syndrome
- ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome
- ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome
- ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome
- ORPHA:1377 Cataract-microcornea syndrome
- ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- OMIM:619338 Cataracts, spastic paraparesis, and speech delay
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- ORPHA:1388 Catel-Manzke syndrome
- OMIM:618761 Catifa syndrome
- OMIM:611543 Cavitary optic disc anomalies
- OMIM:603116 CDAGS syndrome
- ORPHA:505652 CDKL5-deficiency disorder
- OMIM:618774 CEBALID syndrome
- ORPHA:66631 CEDNIK syndrome
- OMIM:212780 Cenani-Lenz syndactyly syndrome
- ORPHA:3258 Cenani-Lenz syndrome
- ORPHA:75377 Central areolar choroidal dystrophy
- ORPHA:597 Central core disease
- OMIM:619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- ORPHA:73256 Central neurocytoma
- ORPHA:411527 Central retinal vein occlusion
- OMIM:212840 Cerebellar ataxia and hypogonadotropic hypogonadism
- OMIM:601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
- OMIM:619576 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
- ORPHA:94122 Cerebellar ataxia, Cayman type
- OMIM:601238 Cerebellar ataxia, Cayman type
- OMIM:604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
- OMIM:224050 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
- OMIM:610185 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2
- OMIM:613227 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3
- ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome
- OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay
- OMIM:616875 Cerebellar atrophy, visual impairment, and psychomotor retardation
- OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- OMIM:619761 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
- OMIM:213000 Cerebellar hypoplasia
- ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- OMIM:618479 Cerebellar, ocular, craniofacial, and genital syndrome
- ORPHA:444072 Cerebellar-facial-dental syndrome
- OMIM:616202 Cerebellofaciodental syndrome
- OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy
- OMIM:116860 Cerebral cavernous malformations 1
- OMIM:300352 Cerebral creatine deficiency syndrome 1
- OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- OMIM:605388 Cerebral palsy, ataxic, autosomal recessive
- OMIM:612900 Cerebral palsy, spastic quadriplegic, 2
- OMIM:617008 Cerebral palsy, spastic quadriplegic, 3
- OMIM:302700 Cerebral sclerosis, diffuse, Scholz type
- ORPHA:447788 Cerebral visual impairment
- OMIM:300864 Cerebral-Cerebellar-Coloboma syndrome, X-linked
- ORPHA:314679 Cerebrofacioarticular syndrome
- ORPHA:1394 Cerebrofaciothoracic dysplasia
- 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:617341 Cerebroretinal microangiopathy with calcifications and cysts 2
- OMIM:213700 Cerebrotendinous xanthomatosis
- ORPHA:909 Cerebrotendinous xanthomatosis
- OMIM:256730 Ceroid lipofuscinosis, neuronal, 1
- OMIM:610127 Ceroid lipofuscinosis, neuronal, 10
- OMIM:614706 Ceroid lipofuscinosis, neuronal, 11
- OMIM:204500 Ceroid lipofuscinosis, neuronal, 2
- OMIM:204200 Ceroid lipofuscinosis, neuronal, 3
- OMIM:256731 Ceroid lipofuscinosis, neuronal, 5
- OMIM:601780 Ceroid lipofuscinosis, neuronal, 6
- OMIM:610951 Ceroid lipofuscinosis, neuronal, 7
- OMIM:600143 Ceroid lipofuscinosis, neuronal, 8
- OMIM:609055 Ceroid lipofuscinosis, neuronal, 9
- OMIM:275630 Chanarin-Dorfman syndrome
- ORPHA:1401 CHAND syndrome
- OMIM:169100 Char syndrome
- ORPHA:46627 Char syndrome
- ORPHA:101082 Charcot-Marie-Tooth disease type 1B
- ORPHA:90658 Charcot-Marie-Tooth disease type 1E
- ORPHA:101085 Charcot-Marie-Tooth disease type 1F
- ORPHA:99956 Charcot-Marie-Tooth disease type 4B2
- ORPHA:99949 Charcot-Marie-Tooth disease type 4C
- OMIM:118301 Charcot-Marie-Tooth disease with ptosis and parkinsonism
- OMIM:617087 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
- OMIM:609260 Charcot-marie-tooth disease, axonal, type 2A2A
- OMIM:607684 Charcot-Marie-Tooth disease, axonal, type 2E
- OMIM:619764 Charcot-Marie-Tooth disease, demyelinating, type 1H
- OMIM:617882 Charcot-Marie-Tooth disease, dominant intermediate G
- OMIM:118200 Charcot-Marie-Tooth disease, type 1B
- OMIM:607736 Charcot-Marie-Tooth disease, type 2J
- 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:616684 Charcot-Marie-Tooth disease, type 4K
- OMIM:311070 Charcot-Marie-Tooth disease, X-linked recessive, 5
- 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
- ORPHA:167 Chédiak-Higashi syndrome
- ORPHA:184 Cherubism
- OMIM:118400 Cherubism
- OMIM:118420 Chiari malformation type I
- OMIM:207950 Chiari malformation type II
- ORPHA:324625 Chikungunya
- ORPHA:64280 Childhood absence epilepsy
- ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
- ORPHA:171439 Childhood-onset nemaline myopathy
- ORPHA:401866 Childhood-onset spasticity with hyperglycinemia
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:3474 CHIME syndrome
- OMIM:617180 Chitayat syndrome
- ORPHA:173 Cholera
- OMIM:214980 Cholestasis with gallstone, ataxia, and visual disturbance
- 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:614078 Chondrodysplasia with joint dislocations, Gpapp type
- OMIM:300863 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
- ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome
- ORPHA:319195 Chondroectodermal dysplasia with night blindness
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- OMIM:619504 Chopra-Amiel-Gordon syndrome
- OMIM:616368 CHOPS syndrome
- OMIM:601372 Chorea, remitting, with nystagmus and cataract
- ORPHA:2388 Choreoacanthocytosis
- OMIM:600790 Chorioretinal atrophy, progressive bifocal
- OMIM:215480 Choroid plexus calcification and mental retardation
- ORPHA:1433 Choroidal atrophy-alopecia syndrome
- OMIM:215500 Choroidal dystrophy, central areolar 1
- OMIM:613105 Choroidal dystrophy, central areolar 2
- OMIM:613144 Choroidal dystrophy, central areolar 3
- OMIM:118865 Choroidal osteoma, bilateral
- OMIM:303100 CHOROIDEREMIA
- ORPHA:180 Choroideremia
- ORPHA:85278 Christianson syndrome
- ORPHA:182 Chromomycosis
- OMIM:612242 Chromosome 10q22.3-q23.2 deletion syndrome
- OMIM:609625 Chromosome 10Q26 deletion syndrome
- OMIM:616902 Chromosome 11P13 deletion syndrome, distal
- OMIM:613884 Chromosome 13q14 deletion syndrome
- OMIM:619148 Chromosome 13q33-q34 deletion syndrome
- OMIM:613457 Chromosome 14q11-q22 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:611913 Chromosome 16p11.2 deletion syndrome, 593-kb
- 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:619649 Chromosome 16q12 duplication syndrome
- OMIM:614541 Chromosome 16q22 deletion syndrome
- OMIM:613776 Chromosome 17p13.1 deletion 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:146390 Chromosome 18p deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:613638 Chromosome 19p13.13 deletion syndrome
- OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal
- OMIM:617930 Chromosome 1p35 deletion syndrome
- OMIM:607872 Chromosome 1p36 deletion syndrome
- OMIM:618815 Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster
- OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb
- OMIM:612475 Chromosome 1q21.1 duplication syndrome
- OMIM:612530 Chromosome 1q41-q42 deletion syndrome
- OMIM:614257 Chromosome 20q11-q12 deletion syndrome
- OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal
- OMIM:608363 Chromosome 22q11.2 duplication syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:613681 Chromosome 2q31.1 duplication syndrome
- OMIM:600430 Chromosome 2q37 deletion syndrome
- OMIM:613792 Chromosome 3pter-p25 deletion syndrome
- OMIM:615433 Chromosome 3q13.31 deletion syndrome
- OMIM:611936 Chromosome 3q29 duplication syndrome
- OMIM:613509 Chromosome 4q21 deletion 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:300578 Chromosome xp11.3 deletion syndrome
- OMIM:301069 Chromosome Xq13 duplication syndrome
- OMIM:300942 Chromosome Xq26.3 duplication syndrome
- OMIM:300869 Chromosome xq27.3-q28 duplication syndrome
- ORPHA:529808 Chronic bilirubin encephalopathy
- ORPHA:99921 Chronic graft versus host disease
- ORPHA:379 Chronic granulomatous disease
- ORPHA:1334 Chronic mucocutaneous candidiasis
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- ORPHA:263463 CHST3-related skeletal dysplasia
- ORPHA:71 Chylomicron retention disease
- ORPHA:1160 Chylous ascites
- OMIM:244400 Ciliary dyskinesia, primary, 1
- OMIM:619273 Cimdag syndrome
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- ORPHA:247525 Citrullinemia type I
- ORPHA:251383 CK syndrome
- OMIM:300831 Ck syndrome
- ORPHA:79239 Classic galactosemia
- ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome
- ORPHA:394 Classic homocystinuria
- ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration
- ORPHA:79254 Classic phenylketonuria
- ORPHA:240071 Classic progressive supranuclear palsy syndrome
- ORPHA:287 Classical Ehlers-Danlos syndrome
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome
- ORPHA:1995 Cleft lip-retinopathy 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: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:619074 Cleft palate, proliferative retinopathy, and developmental delay
- OMIM:616728 Cleft palate, psychomotor retardation, and distinctive facial features
- ORPHA:2013 Cleft palate-large ears-small head syndrome
- OMIM:155145 Cleft, median, of upper lip with polyps of facial skin and nasal mucosa
- ORPHA:1452 Cleidocranial dysplasia
- OMIM:119600 Cleidocranial dysplasia
- ORPHA:228346 CLN3 disease
- ORPHA:228360 CLN5 disease
- 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
- OMIM:119915 Cluster headache, familial
- ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy
- OMIM:216360 Coach syndrome 1
- OMIM:619111 Coach syndrome 2
- OMIM:619113 COACH syndrome 3
- OMIM:300216 Coats disease
- ORPHA:190 Coats disease
- ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement
- ORPHA:90068 Cocaine intoxication
- ORPHA:228123 Coccidioidomycosis
- OMIM:120040 Cochleosaccular degeneration of the inner ear with progressive cataracts
- ORPHA:3233 Cochleosaccular degeneration-cataract syndrome
- ORPHA:191 Cockayne syndrome
- OMIM:216400 Cockayne syndrome A
- ORPHA:90321 Cockayne syndrome type 1
- ORPHA:90322 Cockayne syndrome type 2
- ORPHA:90324 Cockayne syndrome type 3
- OMIM:133540 Cockayne syndrome, type B
- ORPHA:1458 CODAS syndrome
- OMIM:600373 CODAS syndrome
- OMIM:607426 Coenzyme Q10 deficiency, primary, 1
- OMIM:614651 Coenzyme Q10 deficiency, primary, 2
- OMIM:614652 Coenzyme Q10 deficiency, primary, 3
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- OMIM:619028 Coenzyme Q10 deficiency, primary, 9
- ORPHA:192 Coffin-Lowry syndrome
- OMIM:303600 Coffin-Lowry syndrome
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:135900 Coffin-Siris syndrome 1
- 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:618027 Coffin-Siris syndrome 7
- OMIM:618362 Coffin-Siris syndrome 8
- OMIM:615866 Coffin-Siris syndrome 9
- ORPHA:1466 COFS syndrome
- ORPHA:263508 COG1-CDG
- ORPHA:263501 COG4-CDG
- ORPHA:263487 COG5-CDG
- ORPHA:95428 COG8-CDG
- ORPHA:1467 Cogan syndrome
- OMIM:614306 Cognitive impairment with or without cerebellar ataxia
- 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
- ORPHA:2050 Cole-Carpenter syndrome
- OMIM:112240 Cole-Carpenter syndrome 1
- OMIM:616294 Cole-Carpenter syndrome 2
- OMIM:115250 Collagenoma, familial cutaneous
- OMIM:120300 Coloboma of macula
- 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
- OMIM:120430 Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included
- OMIM:120200 Coloboma, ocular
- OMIM:216820 Coloboma, ocular, autosomal recessive
- OMIM:120433 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
- OMIM:617306 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
- OMIM:601794 Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome
- ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- OMIM:303800 Colorblindness, deutan
- OMIM:303900 Colorblindness, partial, protan series
- OMIM:615182 Combined d-2- and l-2-hydroxyglutaric aciduria
- ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium
- ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction
- ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies
- OMIM:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- OMIM:619120 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
- ORPHA:319514 Combined oxidative phosphorylation defect type 13
- ORPHA:444013 Combined oxidative phosphorylation defect type 23
- ORPHA:477774 Combined oxidative phosphorylation defect type 27
- ORPHA:478029 Combined oxidative phosphorylation defect type 29
- ORPHA:565624 Combined oxidative phosphorylation defect type 39
- ORPHA:254930 Combined oxidative phosphorylation defect type 7
- OMIM:609060 Combined oxidative phosphorylation deficiency 1
- OMIM:614702 Combined oxidative phosphorylation deficiency 10
- OMIM:614924 Combined oxidative phosphorylation deficiency 12
- OMIM:614932 Combined oxidative phosphorylation deficiency 13
- OMIM:614946 Combined oxidative phosphorylation deficiency 14
- OMIM:614947 Combined oxidative phosphorylation deficiency 15
- OMIM:615578 Combined oxidative phosphorylation deficiency 18
- OMIM:615917 Combined oxidative phosphorylation deficiency 20
- OMIM:616198 Combined oxidative phosphorylation deficiency 23
- OMIM:616239 Combined oxidative phosphorylation deficiency 24
- OMIM:616430 Combined oxidative phosphorylation deficiency 25
- OMIM:616672 Combined oxidative phosphorylation deficiency 27
- OMIM:616811 Combined oxidative phosphorylation deficiency 29
- OMIM:610505 Combined oxidative phosphorylation deficiency 3
- OMIM:617228 Combined oxidative phosphorylation deficiency 31
- OMIM:617664 Combined oxidative phosphorylation deficiency 32
- OMIM:617713 Combined oxidative phosphorylation deficiency 33
- OMIM:617873 Combined oxidative phosphorylation deficiency 35
- OMIM:617950 Combined oxidative phosphorylation deficiency 36
- OMIM:618329 Combined oxidative phosphorylation deficiency 37
- OMIM:618378 Combined oxidative phosphorylation deficiency 38
- OMIM:610678 Combined oxidative phosphorylation deficiency 4
- OMIM:618855 Combined oxidative phosphorylation deficiency 44
- OMIM:618951 Combined oxidative phosphorylation deficiency 45
- OMIM:618958 Combined oxidative phosphorylation deficiency 47
- OMIM:619012 Combined oxidative phosphorylation deficiency 48
- OMIM:619057 Combined oxidative phosphorylation deficiency 51
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:619743 Combined oxidative phosphorylation deficiency 55
- OMIM:613559 Combined oxidative phosphorylation deficiency 7
- OMIM:614096 Combined oxidative phosphorylation deficiency 8
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- OMIM:611721 Combined saposin deficiency
- ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome
- OMIM:602093 Cone dystrophy 3
- OMIM:613093 Cone dystrophy 4
- OMIM:304030 Cone dystrophy, X-linked, with tapetal-like sheen
- ORPHA:1872 Cone rod dystrophy
- OMIM:600624 Cone-Rod dystrophy 1
- OMIM:610283 Cone-Rod dystrophy 10
- OMIM:610381 Cone-Rod dystrophy 11
- OMIM:612657 Cone-rod dystrophy 12
- OMIM:608194 Cone-rod dystrophy 13
- OMIM:613660 Cone-rod dystrophy 15
- OMIM:614500 Cone-Rod dystrophy 16
- OMIM:615163 Cone-Rod dystrophy 17
- OMIM:615374 Cone-Rod dystrophy 18
- OMIM:615860 Cone-Rod dystrophy 19
- OMIM:120970 Cone-Rod dystrophy 2
- OMIM:615973 Cone-Rod dystrophy 20
- OMIM:616502 Cone-Rod dystrophy 21
- OMIM:619531 Cone-rod dystrophy 22
- OMIM:604116 Cone-rod dystrophy 3
- OMIM:600977 Cone-Rod dystrophy 5
- OMIM:601777 Cone-Rod dystrophy 6
- OMIM:603649 Cone-rod dystrophy 7
- OMIM:605549 Cone-Rod dystrophy 8
- OMIM:612775 Cone-Rod dystrophy 9
- OMIM:617236 Cone-rod dystrophy and hearing loss
- OMIM:618358 Cone-rod dystrophy and hearing loss 2
- OMIM:304020 Cone-rod dystrophy, X-linked, 1
- OMIM:300085 Cone-Rod dystrophy, X-linked, 2
- OMIM:300476 Cone-Rod dystrophy, X-linked, 3
- OMIM:618970 Cone-rod synaptic disorder syndrome, congenital nonprogressive
- OMIM:610427 Cone-Rod synaptic disorder, congenital nonprogressive
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- OMIM:611890 Congenital arthrogryposis with anterior horn cell disease
- ORPHA:79301 Congenital bile acid synthesis defect type 1
- ORPHA:79095 Congenital bile acid synthesis defect type 4
- ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- OMIM:604168 Congenital cataracts, facial dysmorphism, and neuropathy
- OMIM:614482 Congenital cataracts, hearing loss, and neurodegeneration
- ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome
- ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation
- ORPHA:115 Congenital contractural arachnodactyly
- OMIM:616266 Congenital contractures of the limbs and face, hypotonia, and developmental delay
- OMIM:608484 Congenital corneal opacities, cornea guttata, and corectopia
- 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:618324 Congenital disorder of glycosylation with defective fucosylation 2
- OMIM:619493 Congenital disorder of glycosylation, type 2V
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:617082 Congenital disorder of glycosylation, type IAA
- OMIM:603147 Congenital disorder of glycosylation, type Ic
- OMIM:601110 Congenital disorder of glycosylation, type Id
- OMIM:608799 Congenital disorder of glycosylation, type IE
- OMIM:609180 Congenital disorder of glycosylation, type IF
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- OMIM:608104 Congenital disorder of glycosylation, type Ih
- OMIM:607906 Congenital disorder of glycosylation, type Ii
- OMIM:606056 Congenital disorder of glycosylation, type IIB
- 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:613489 Congenital disorder of glycosylation, type IIj
- OMIM:614576 Congenital disorder of glycosylation, type IIl
- OMIM:300896 Congenital disorder of glycosylation, type IIm
- OMIM:616721 Congenital disorder of glycosylation, type IIN
- OMIM:616828 Congenital disorder of glycosylation, type IIO
- 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:608540 Congenital disorder of glycosylation, type Ik
- OMIM:608776 Congenital disorder of glycosylation, type Il
- OMIM:610768 Congenital disorder of glycosylation, type Im
- OMIM:612015 Congenital disorder of glycosylation, type IN
- OMIM:613661 Congenital disorder of glycosylation, type Ip
- OMIM:612379 Congenital disorder of glycosylation, type IQ
- OMIM:614507 Congenital disorder of glycosylation, type IR
- OMIM:614921 Congenital disorder of glycosylation, type It
- OMIM:615042 Congenital disorder of glycosylation, type Iu
- OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal dominant
- OMIM:615597 Congenital disorder of glycosylation, type Ix
- OMIM:300934 Congenital disorder of glycosylation, type Iy
- ORPHA:79277 Congenital erythropoietic porphyria
- ORPHA:330 Congenital factor XII deficiency
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:98976 Congenital glaucoma
- 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
- ORPHA:293603 Congenital hereditary endothelial dystrophy type II
- ORPHA:2185 Congenital hydrocephalus
- ORPHA:442 Congenital hypothyroidism
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability
- ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- ORPHA:566 Congenital microcoria
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement
- ORPHA:370968 Congenital muscular dystrophy with intellectual disability
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:272 Congenital muscular dystrophy, Fukuyama type
- ORPHA:75840 Congenital muscular dystrophy, Ullrich type
- ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- ORPHA:590 Congenital myasthenic syndrome
- ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect
- ORPHA:424107 Congenital myopathy with myasthenic-like onset
- ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma
- ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- ORPHA:83461 Congenital primary aphakia
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:91411 Congenital ptosis
- ORPHA:290 Congenital rubella syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:215 Congenital stationary night blindness
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:92050 Congenital tufting enteropathy
- ORPHA:291 Congenital varicella syndrome
- ORPHA:420794 Cono-spondylar dysplasia
- OMIM:217095 Conotruncal heart malformations
- OMIM:121050 Contractural arachnodactyly, congenital
- OMIM:178110 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A
- ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome
- ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- ORPHA:1488 Cooper-Jabs syndrome
- OMIM:121390 Cornea guttata with anterior polar cataracts
- OMIM:121400 Cornea plana 1
- OMIM:217300 Cornea plana 2
- OMIM:602082 Corneal dystrophy of bowman layer, type II
- OMIM:607541 Corneal dystrophy, Avellino type
- OMIM:217500 Corneal dystrophy, band-shaped
- OMIM:217600 Corneal dystrophy, Central type
- OMIM:610048 Corneal dystrophy, congenital stromal
- OMIM:121800 Corneal dystrophy, crystalline, of schnyder
- OMIM:300779 Corneal dystrophy, endothelial, X-linked
- OMIM:121820 Corneal dystrophy, epithelial basement membrane
- OMIM:136800 Corneal dystrophy, fuchs endothelial, 1
- OMIM:610158 Corneal dystrophy, fuchs endothelial, 2
- OMIM:613268 Corneal dystrophy, Fuchs endothelial, 4
- OMIM:613270 Corneal dystrophy, fuchs endothelial, 6
- OMIM:615523 Corneal dystrophy, fuchs endothelial, 8
- OMIM:204870 Corneal dystrophy, gelatinous drop-like
- OMIM:122200 Corneal dystrophy, lattice type I
- OMIM:608471 Corneal dystrophy, lattice type IIIA
- OMIM:300778 Corneal dystrophy, lisch epithelial
- OMIM:612868 Corneal dystrophy, posterior amorphous
- OMIM:122000 Corneal dystrophy, posterior polymorphous, 1
- OMIM:609140 Corneal dystrophy, posterior polymorphous, 2
- OMIM:609141 Corneal dystrophy, posterior polymorphous, 3
- OMIM:618031 Corneal dystrophy, posterior polymorphous, 4
- OMIM:619871 Corneal dystrophy, punctiform and polychromatic pre-Descemet
- OMIM:608470 Corneal dystrophy, Reis-Bucklers type
- ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome
- OMIM:217400 Corneal endothelial dystrophy and perceptive deafness
- OMIM:217700 Corneal endothelial dystrophy, autosomal recessive
- OMIM:121850 Corneal fleck dystrophy
- OMIM:122430 Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation
- OMIM:122450 Corneal hypesthesia, familial
- OMIM:269400 Corneal opacification with other ocular anomalies
- 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:2508 Corpus callosum agenesis-abnormal genitalia syndrome
- ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
- ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome
- OMIM:300004 Corpus callosum, agenesis of, with abnormal genitalia
- OMIM:616819 Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
- OMIM:217980 Corpus callosum, agenesis of, with facial anomalies and Robin sequence
- OMIM:300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia
- 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:614039 Cortical dysplasia, complex, with other brain malformations 1
- OMIM:615411 Cortical dysplasia, complex, with other brain malformations 3
- OMIM:615412 Cortical dysplasia, complex, with other brain malformations 4
- OMIM:615771 Cortical dysplasia, complex, with other brain malformations 6
- OMIM:610031 Cortical dysplasia, complex, with other brain malformations 7
- OMIM:614115 Cortical malformations, occipital
- OMIM:218040 Costello syndrome
- ORPHA:3071 Costello syndrome
- OMIM:260660 Cousin syndrome
- ORPHA:201 Cowden syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:615108 Cowden syndrome 5
- OMIM:615109 Cowden syndrome 6
- ORPHA:202 Crandall syndrome
- ORPHA:1512 Crane-Heise syndrome
- OMIM:218200 Cranial nerves, recurrent paresis of
- ORPHA:1513 Craniodiaphyseal dysplasia
- OMIM:122860 Craniodiaphyseal dysplasia, autosomal dominant
- ORPHA:1515 Cranioectodermal dysplasia
- OMIM:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:614378 Cranioectodermal dysplasia 4
- OMIM:608227 Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation
- OMIM:614195 Craniofacial anomalies and anterior segment dysgenesis syndrome
- 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:218350 Craniofacial dyssynostosis with short stature
- OMIM:122880 Craniofacial-Deafness-Hand syndrome
- ORPHA:1529 Craniofacial-deafness-hand syndrome
- OMIM:114620 Craniofaciofrontodigital syndrome
- ORPHA:363705 Craniofaciofrontodigital 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:54595 Craniopharyngioma
- OMIM:604757 Craniosynostosis 2
- OMIM:615314 Craniosynostosis 3
- OMIM:600775 Craniosynostosis 4
- OMIM:616602 Craniosynostosis 6
- OMIM:614188 Craniosynostosis and dental anomalies
- OMIM:608432 Craniosynostosis, calcification of basal ganglia, and facial dysmorphism
- ORPHA:2145 Craniosynostosis, Herrmann-Opitz type
- ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome
- ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- OMIM:218650 Craniosynostosis-Mental retardation-clefting syndrome
- OMIM:218670 Craniotelencephalic dysplasia
- ORPHA:1528 Craniotelencephalic dysplasia
- OMIM:619727 Craniotubular dysplasia, Ikegawa type
- OMIM:606851 Cree mental retardation syndrome
- OMIM:123400 Creutzfeldt-Jakob disease
- OMIM:123450 Cri-Du-Chat syndrome
- ORPHA:205 Crigler-Najjar syndrome
- ORPHA:79234 Crigler-Najjar syndrome type 1
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- OMIM:272430 Crisponi/cold-induced sweating syndrome 1
- OMIM:617055 Crisponi/cold-Induced sweating syndrome 3
- OMIM:218900 Crome syndrome
- ORPHA:2930 Cronkhite-Canada syndrome
- ORPHA:2935 Crossed polysyndactyly
- ORPHA:207 Crouzon syndrome
- OMIM:123500 Crouzon syndrome
- OMIM:612247 Crouzon syndrome with acanthosis nigricans
- ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome
- ORPHA:91138 Cryoglobulinemic vasculitis
- ORPHA:1546 Cryptococcosis
- OMIM:123570 Cryptophthalmos, unilateral or bilateral, isolated
- 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
- OMIM:601707 Curry-Jones syndrome
- ORPHA:1553 Curry-Jones syndrome
- ORPHA:96253 Cushing disease
- ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- OMIM:616603 Cutis laxa, autosomal dominant 3
- 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:219250 Cutis marmorata telangiectatica congenita
- ORPHA:1556 Cutis marmorata telangiectatica congenita
- ORPHA:306692 Cyanide-induced parkinsonism-dystonia
- OMIM:500007 Cyclic vomiting syndrome
- ORPHA:400 Cystic echinococcosis
- ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- ORPHA:1560 Cysticercosis
- ORPHA:213 Cystinosis
- OMIM:219750 Cystinosis, adult nonnephropathic
- OMIM:219900 Cystinosis, late-onset juvenile or adolescent nephropathic
- OMIM:219800 Cystinosis, nephropathic
Code pathologie
Nom de la pathologie
- OMIM:600721 D-2-Hydroxyglutaric aciduria 1
- OMIM:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:941 D-glyceric aciduria
- ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome
- ORPHA:1563 Dahlberg-Borer-Newcomer syndrome
- OMIM:220220 Dandy-Walker malformation with postaxial polydactyly
- OMIM:220200 Dandy-Walker syndrome
- OMIM:300257 Danon disease
- ORPHA:300536 DDOST-CDG
- ORPHA:2962 De Barsy syndrome
- OMIM:278800 De Sanctis-Cacchione syndrome
- ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type
- OMIM:221200 Deafness and myopia
- ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia
- OMIM:617772 Deafness, autosomal dominant 34, with or without inflammation
- OMIM:615837 Deafness, autosomal recessive 101
- OMIM:616515 Deafness, autosomal recessive 104
- OMIM:617654 Deafness, autosomal recessive 108
- OMIM:601386 Deafness, autosomal recessive 12
- OMIM:601869 Deafness, autosomal recessive 15
- OMIM:609533 Deafness, autosomal recessive 23
- OMIM:608565 Deafness, autosomal recessive 35
- OMIM:607821 Deafness, autosomal recessive 37
- OMIM:609946 Deafness, autosomal recessive 47
- OMIM:609952 Deafness, autosomal recessive 55
- OMIM:618003 Deafness, autosomal recessive 57
- OMIM:611451 Deafness, autosomal recessive 63
- OMIM:613718 Deafness, autosomal recessive 74
- OMIM:619354 Deafness, cataract, impaired intellectual development, and polyneuropathy
- OMIM:300719 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
- OMIM:221320 Deafness, conductive, with ptosis and skeletal anomalies
- OMIM:617992 Deafness, congenital heart defects, and posterior embryotoxon
- OMIM:619196 Deafness, congenital, and adult-onset progressive leukoencephalopathy
- OMIM:300475 Deafness, dystonia, and cerebral hypomyelination
- OMIM:124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease
- OMIM:301018 Deafness, X-linked 7
- ORPHA:3241 Deafness-craniofacial syndrome
- ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome
- ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:90646 Deafness-hypogonadism syndrome
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome
- OMIM:619004 Deeah syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:619488 DEGCAGS syndrome
- ORPHA:3034 Delayed membranous cranial ossification
- ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- OMIM:117300 Dementia, familial danish
- ORPHA:79134 DEND syndrome
- ORPHA:1652 Dent disease
- OMIM:619877 Dentici-Novelli neurodevelopmental syndrome
- ORPHA:49042 Dentinogenesis imperfecta
- OMIM:603165 Dermatitis, atopic
- OMIM:221810 Dermatoosteolysis, Kirghizian type
- ORPHA:1657 Dermatoosteolysis, Kirghizian type
- OMIM:221800 Dermochondrocorneal dystrophy
- ORPHA:79149 Dermochondrocorneal dystrophy
- OMIM:304730 Dermoids of cornea
- ORPHA:1660 Dermoodontodysplasia
- OMIM:616708 Desanto-Shinawi syndrome
- OMIM:251450 Desbuquois dysplasia 1
- OMIM:615777 Desbuquois dysplasia 2
- ORPHA:1425 Desbuquois syndrome
- ORPHA:873 Desmoid tumor
- ORPHA:35107 Desmosterolosis
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:619777 Developmental and epileptic encephalopathy 100
- OMIM:619881 Developmental and epileptic encephalopathy 102
- OMIM:619970 Developmental and epileptic encephalopathy 104
- OMIM:619983 Developmental and epileptic encephalopathy 105 with hypopituitarism
- OMIM:620028 Developmental and epileptic encephalopathy 106
- OMIM:620033 Developmental and epileptic encephalopathy 107
- OMIM:300672 Developmental and epileptic encephalopathy 2
- OMIM:617276 Developmental and epileptic encephalopathy 48
- OMIM:617830 Developmental and epileptic encephalopathy 58
- OMIM:617938 Developmental and epileptic encephalopathy 62
- OMIM:618285 Developmental and epileptic encephalopathy 69
- OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet
- OMIM:618298 Developmental and epileptic encephalopathy 70
- OMIM:618379 Developmental and epileptic encephalopathy 73
- OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects
- OMIM:619124 Developmental and epileptic encephalopathy 89
- OMIM:617711 Developmental and epileptic encephalopathy 91
- OMIM:619561 Developmental and epileptic encephalopathy 97
- OMIM:619606 Developmental and epileptic encephalopathy 99
- 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:616901 Developmental delay with short stature, dysmorphic features, and sparse hair
- OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities
- OMIM:619694 Developmental delay with variable neurologic and brain abnormalities
- OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
- OMIM:620012 Developmental delay, hypotonia, and impaired language
- OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral 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
- ORPHA:79107 Developmental malformations-deafness-dystonia syndrome
- OMIM:221950 Dextrocardia with unusual facies and microphthalmia
- OMIM:520000 Diabetes and deafness, maternally inherited
- OMIM:125700 Diabetes insipidus, Neurohypophyseal type
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- OMIM:618856 Diabetes, permanent neonatal 2, with or without neurologic features
- ORPHA:1926 Diabetic embryopathy
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:612528 Diamond-Blackfan anemia 5
- OMIM:612561 Diamond-Blackfan anemia 6
- OMIM:612563 Diamond-Blackfan anemia 8
- OMIM:608022 Diaphanospondylodysostosis
- 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
- OMIM:270420 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
- ORPHA:628 Diastrophic dysplasia
- ORPHA:1672 Diencephalic syndrome
- OMIM:188400 Digeorge syndrome
- ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency
- OMIM:274270 Dihydropyrimidine dehydrogenase deficiency
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- OMIM:126070 Dilution, pigmentary
- ORPHA:1681 Diprosopus
- ORPHA:2412 Dislocation of the hip-dysmorphism syndrome
- ORPHA:79168 Disorder of bile acid synthesis
- ORPHA:2983 Disorder of sex development-intellectual disability syndrome
- 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: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:36367 Distal monosomy 1q
- ORPHA:1620 Distal monosomy 3p
- ORPHA:96125 Distal monosomy 6p
- ORPHA:1636 Distal monosomy 7q36
- ORPHA:1642 Distal monosomy 9p
- ORPHA:314588 Distal tetrasomy 15q
- ORPHA:1705 Distal trisomy 14q
- ORPHA:1707 Distal trisomy 15q
- ORPHA:3379 Distal trisomy 17q
- ORPHA:1716 Distal trisomy 18q
- ORPHA:96097 Distal trisomy 5q
- ORPHA:1745 Distal trisomy 6p
- ORPHA:293939 Distal Xq28 microduplication syndrome
- OMIM:223330 Diverticulosis of bowel, hernia, and retinal detachment
- ORPHA:91131 DK1-CDG
- ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome
- ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- OMIM:222448 Donnai-Barrow syndrome
- ORPHA:2143 Donnai-Barrow syndrome
- OMIM:246200 Donohue syndrome
- OMIM:220500 Doors syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3426 Double outlet right ventricle
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- OMIM:126600 Doyne honeycomb retinal dystrophy
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome
- ORPHA:233 Duane retraction syndrome
- OMIM:126800 Duane retraction syndrome 1
- OMIM:604356 Duane retraction syndrome 2
- OMIM:617041 Duane retraction syndrome 3 with or without deafness
- OMIM:607323 Duane-Radial ray syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:314621 Duplication of the pituitary gland
- ORPHA:97339 Dural sinus malformation
- OMIM:127200 Dwarfism with stiff joints and ocular abnormalities
- OMIM:223540 Dwarfism, mental retardation, and eye abnormality
- OMIM:619955 Dworschak-Punetha neurodevelopmental syndrome
- ORPHA:239 Dyggve-Melchior-Clausen disease
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- ORPHA:412 Dysbetalipoproteinemia
- ORPHA:1765 Dyschondrosteosis-nephritis syndrome
- ORPHA:41 Dyschromatosis symmetrica hereditaria
- ORPHA:1766 Dysequilibrium syndrome
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- OMIM:224230 Dyskeratosis congenita, autosomal recessive 1
- OMIM:616353 Dyskeratosis congenita, autosomal recessive 6
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:305000 Dyskeratosis congenita, X-linked
- OMIM:127600 Dyskeratosis, hereditary benign intraepithelial
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- ORPHA:1782 Dysosteosclerosis
- OMIM:224300 DYSOSTEOSCLEROSIS
- ORPHA:1798 Dysostosis, Stanescu type
- OMIM:224400 Dyssegmental dysplasia, Rolland-Desbuquois type
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- ORPHA:589618 Dystonia 28
- OMIM:617284 Dystonia 28, childhood-onset
- OMIM:619687 Dystonia 33
- OMIM:619724 Dystonia 34, myoclonic
- OMIM:601042 Dystonia 9
- OMIM:611694 Dystonia with cerebellar atrophy
- OMIM:617282 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
- OMIM:612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
- OMIM:128230 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
- OMIM:607371 Dystonia, juvenile-onset
- ORPHA:412217 Dystonia-aphonia syndrome
Code pathologie
Nom de la pathologie
- ORPHA:40923 Eales disease
- ORPHA:1934 Early infantile epileptic encephalopathy
- ORPHA:1020 Early-onset autosomal dominant Alzheimer disease
- 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:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome
- 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:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- ORPHA:98890 Early-onset X-linked optic atrophy
- OMIM:617392 Ectodermal dysplasia 13, Hair/tooth type
- OMIM:618535 Ectodermal dysplasia 15, Hypohidrotic/hair type
- OMIM:614931 Ectodermal dysplasia 9, Hair/nail type
- OMIM:618727 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic
- OMIM:225280 Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
- OMIM:609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- ORPHA:1806 Ectodermal dysplasia-blindness syndrome
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- OMIM:225100 Ectopia lentis
- OMIM:225200 Ectopia lentis et pupillae
- OMIM:129600 Ectopia lentis, familial
- OMIM:129750 Ectopia pupillae
- OMIM:604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
- OMIM:129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1
- OMIM:614303 Edict syndrome
- ORPHA:1895 Edinburgh malformation syndrome
- ORPHA:1896 EEC syndrome
- ORPHA:1897 EEM syndrome
- OMIM:608763 Ehlers-danlos syndrome, Beasley-Cohen type
- 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
- OMIM:256710 Elejalde disease
- ORPHA:289 Ellis Van Creveld syndrome
- OMIM:211380 Elsahy-Waters syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- ORPHA:261 Emery-Dreifuss muscular dystrophy
- ORPHA:83600 Encephalitis lethargica
- ORPHA:2396 Encephalocraniocutaneous lipomatosis
- OMIM:613001 Encephalocraniocutaneous lipomatosis
- OMIM:614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
- OMIM:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1
- OMIM:617086 Encephalopathy due to defective mitochondrial and peroxisomal fission 2
- ORPHA:139406 Encephalopathy due to prosaposin deficiency
- ORPHA:833 Encephalopathy due to sulfite oxidase deficiency
- OMIM:225740 Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
- OMIM:602473 Encephalopathy, ethylmalonic
- OMIM:604218 Encephalopathy, familial, with neuroserpin inclusion bodies
- OMIM:617669 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity
- OMIM:617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
- OMIM:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
- OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
- OMIM:618331 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
- OMIM:617207 Encephalopathy, progressive, with amyotrophy and optic atrophy
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- ORPHA:2790 Endosteal hyperostosis, Worth type
- OMIM:268100 Enhanced S-cone syndrome
- ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis
- ORPHA:35125 Epidermal nevus syndrome
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia
- ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema
- OMIM:226670 Epidermolysis bullosa simplex with muscular dystrophy
- ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy
- OMIM:612138 Epidermolysis bullosa simplex with pyloric atresia
- OMIM:617290 Epilepsy, early-onset, vitamin b6-dependent
- OMIM:616577 Epilepsy, hearing loss, and mental retardation syndrome
- OMIM:607682 Epilepsy, idiopathic generalized, susceptibility to, 9
- OMIM:611726 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
- OMIM:616230 Epilepsy, progressive myoclonic, 8
- OMIM:266100 Epilepsy, pyridoxine-dependent
- OMIM:608105 Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp
- OMIM:301091 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
- OMIM:226850 EPILEPSY-TELANGIECTASIA
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- OMIM:615338 Epileptic encephalopathy, early infantile, 16
- OMIM:615476 Epileptic encephalopathy, early infantile, 18
- OMIM:615859 Epileptic encephalopathy, early infantile, 23
- OMIM:616211 Epileptic encephalopathy, early infantile, 28
- OMIM:616339 Epileptic encephalopathy, early infantile, 29
- OMIM:609304 Epileptic encephalopathy, early infantile, 3
- OMIM:616647 Epileptic encephalopathy, early infantile, 35
- OMIM:300884 Epileptic encephalopathy, early infantile, 36
- OMIM:616981 Epileptic encephalopathy, early infantile, 37
- OMIM:617020 Epileptic encephalopathy, early infantile, 38
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:612164 Epileptic encephalopathy, early infantile, 4
- OMIM:617106 Epileptic encephalopathy, early infantile, 42
- OMIM:617153 Epileptic encephalopathy, early infantile, 45
- OMIM:617162 Epileptic encephalopathy, early infantile, 46
- OMIM:617166 Epileptic encephalopathy, early infantile, 47
- OMIM:617281 Epileptic encephalopathy, early infantile, 49
- OMIM:617339 Epileptic encephalopathy, early infantile, 51
- OMIM:617389 Epileptic encephalopathy, early infantile, 53
- OMIM:617599 Epileptic encephalopathy, early infantile, 55
- OMIM:607208 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
- OMIM:617933 Epileptic encephalopathy, early infantile, 61
- OMIM:617976 Epileptic encephalopathy, early infantile, 63
- OMIM:618067 Epileptic encephalopathy, early infantile, 66
- OMIM:618374 Epileptic encephalopathy, early infantile, 72
- OMIM:618396 Epileptic encephalopathy, early infantile, 74
- OMIM:618437 Epileptic encephalopathy, early infantile, 75
- OMIM:618548 Epileptic encephalopathy, early infantile, 77
- OMIM:618557 Epileptic encephalopathy, early infantile, 78
- OMIM:618580 Epileptic encephalopathy, early infantile, 80
- OMIM:618744 Epileptic encephalopathy, early infantile, 83
- OMIM:618792 Epileptic encephalopathy, early infantile, 84
- OMIM:618916 Epileptic encephalopathy, early infantile, 87
- OMIM:617829 Epileptic encephalopathy, infantile or early childhood, 2
- OMIM:618012 Epileptic encephalopathy, infantile or early childhood, 3
- OMIM:226950 Epiphyseal dysplasia of femoral head, myopia, and deafness
- OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
- OMIM:132450 Epiphyseal dysplasia, multiple, with myopia and conductive deafness
- ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome
- ORPHA:37612 Episodic ataxia type 1
- ORPHA:79135 Episodic ataxia type 3
- ORPHA:79136 Episodic ataxia type 4
- ORPHA:211067 Episodic ataxia type 5
- ORPHA:209967 Episodic ataxia type 6
- ORPHA:209970 Episodic ataxia type 7
- ORPHA:401953 Episodic ataxia with slurred speech
- OMIM:160120 Episodic ataxia, type 1
- OMIM:108500 Episodic ataxia, type 2
- OMIM:606554 Episodic ataxia, type 3
- OMIM:606552 Episodic ataxia, type 4
- OMIM:613855 Episodic ataxia, type 5
- OMIM:612656 Episodic ataxia, type 6
- OMIM:616055 Episodic ataxia, type 8
- OMIM:618924 Episodic ataxia, type 9
- OMIM:122400 Epithelial recurrent erosion dystrophy
- ORPHA:293381 Epithelial recurrent erosion dystrophy
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:999 Ermine phenotype
- OMIM:227010 Ermine phenotype
- OMIM:133020 Erythermalgia, primary
- OMIM:609165 Erythroderma, ichthyosiform, congenital reticular
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- ORPHA:3318 Essential thrombocythemia
- ORPHA:31826 Ethylene glycol poisoning
- ORPHA:51188 Ethylmalonic encephalopathy
- OMIM:616854 Even-Plus syndrome
- OMIM:177650 Exfoliation syndrome
- ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome
- OMIM:133705 External auditory canal, bilateral atresia of, with congenital verticaltalus
- ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- OMIM:133780 Exudative vitreoretinopathy 1
- OMIM:305390 Exudative vitreoretinopathy 2, X-linked
- OMIM:605750 Exudative vitreoretinopathy 3
- OMIM:601813 Exudative vitreoretinopathy 4
- OMIM:613310 Exudative vitreoretinopathy 5
- OMIM:616468 Exudative vitreoretinopathy 6
- OMIM:617572 Exudative vitreoretinopathy 7
- ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:227250 Facial abnormalities, kyphoscoliosis, and mental retardation
- OMIM:600251 Facial clefting, oblique, 1
- OMIM:227255 Facial dysmorphism with multiple malformations
- OMIM:618381 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- 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:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- 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:617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- OMIM:601471 Facial paresis, hereditary congenital, 1
- OMIM:614744 Facial paresis, hereditary congenital, 3
- OMIM:134300 Facial spasm
- OMIM:612731 Faciocardiomelic syndrome
- ORPHA:1973 Faciocardiorenal syndrome
- OMIM:227330 Faciodigitogenital syndrome, autosomal recessive
- ORPHA:269 Facioscapulohumeral dystrophy
- OMIM:158900 Facioscapulohumeral muscular dystrophy 1
- OMIM:227320 Faciothoracogenital syndrome
- ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome
- ORPHA:88619 Familial acute necrotizing encephalopathy
- ORPHA:733 Familial adenomatous polyposis
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- OMIM:620058 Familial apolipoprotein gene cluster deletion syndrome
- ORPHA:1551 Familial benign copper deficiency
- ORPHA:221061 Familial cerebral cavernous malformation
- ORPHA:231160 Familial cerebral saccular aneurysm
- ORPHA:444490 Familial chylomicronemia syndrome
- OMIM:120100 Familial cold inflammatory syndrome 1
- ORPHA:47045 Familial cold urticaria
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:75376 Familial drusen
- ORPHA:1764 Familial dysautonomia
- ORPHA:891 Familial exudative vitreoretinopathy
- ORPHA:99819 Familial gestational hyperthyroidism
- ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor
- ORPHA:225154 Familial infantile bilateral striatal necrosis
- ORPHA:352582 Familial infantile myoclonic epilepsy
- ORPHA:508410 Familial intestinal malrotation
- ORPHA:2238 Familial isolated hypoparathyroidism
- ORPHA:618 Familial melanoma
- ORPHA:199276 Familial multiple lipomatosis
- ORPHA:624 Familial multiple nevi flammei
- ORPHA:569 Familial or sporadic hemiplegic migraine
- ORPHA:97 Familial paroxysmal ataxia
- ORPHA:2989 Familial pterygium of the conjunctiva
- ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:71493 Familial thrombocytosis
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:227645 Fanconi anemia, complementation group C
- 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:617883 Fanconi anemia, complementation group S
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- OMIM:600072 Fatal familial insomnia
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration
- ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency
- OMIM:619376 Faundes-Banka syndrome
- ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- OMIM:153640 Fechtner syndrome
- ORPHA:47612 Felty syndrome
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- OMIM:619699 Ferguson-Bonni neurodevelopmental syndrome
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- OMIM:618388 Fetal akinesia deformation sequence 2
- ORPHA:1915 Fetal alcohol syndrome
- ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia
- ORPHA:294 Fetal cytomegalovirus syndrome
- ORPHA:1912 Fetal hydantoin syndrome
- ORPHA:1910 Fetal iodine syndrome
- ORPHA:1917 Fetal methylmercury syndrome
- ORPHA:295 Fetal parvovirus syndrome
- ORPHA:1913 Fetal trimethadione syndrome
- OMIM:300422 Fg syndrome 4
- ORPHA:93932 FG syndrome type 1
- ORPHA:313855 FGFR2-related bent bone dysplasia
- ORPHA:2021 Fibrochondrogenesis
- OMIM:228520 Fibrochondrogenesis 1
- ORPHA:337 Fibrodysplasia ossificans progressiva
- OMIM:228560 Fibromatosis, gingival, with distinctive facies
- OMIM:619329 Fibromuscular dysplasia, multifocal
- OMIM:135700 Fibrosis of extraocular muscles, congenital, 1
- OMIM:602078 Fibrosis of extraocular muscles, congenital, 2
- OMIM:600638 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement
- OMIM:609384 Fibrosis of extraocular muscles, congenital, 3B
- OMIM:616219 Fibrosis of extraocular muscles, congenital, 5
- OMIM:609612 Fibrosis of extraocular muscles, congenital, with synergistic divergence
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- ORPHA:249 Fibrous dysplasia of bone
- ORPHA:93323 Fibular hemimelia
- ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome
- OMIM:272440 Filippi syndrome
- ORPHA:3255 Filippi syndrome
- OMIM:136120 Fish-Eye disease
- ORPHA:79292 Fish-eye disease
- OMIM:228990 Fleck retina of kandori
- OMIM:228980 Fleck retina, familial benign
- ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:2045 FLOTCH syndrome
- OMIM:136300 Flynn-Aird syndrome
- ORPHA:2047 Flynn-Aird syndrome
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- ORPHA:398173 Focal facial dermal dysplasia type II
- ORPHA:1807 Focal facial dermal dysplasia type III
- OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- ORPHA:79097 Folinic acid-responsive seizures
- OMIM:612289 Fontaine progeroid syndrome
- ORPHA:228371 Foodborne botulism
- OMIM:613606 Forsythe-Wakeling syndrome
- ORPHA:3219 Fountain syndrome
- OMIM:136480 Fourth cranial nerve palsy, familial congenital
- OMIM:609218 Foveal hypoplasia 2
- OMIM:136520 Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included
- ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome
- ORPHA:561854 FOXG1 syndrome
- ORPHA:137834 Frank-Ter Haar syndrome
- OMIM:249420 Frank-ter Haar syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- ORPHA:834 Free sialic acid storage disease
- ORPHA:2053 Freeman-Sheldon syndrome
- OMIM:229250 Freesia flowers, inability to smell
- OMIM:609640 Frias syndrome
- ORPHA:85335 Fried syndrome
- ORPHA:1931 Frontal encephalocele
- ORPHA:1791 Frontofacionasal dysplasia
- OMIM:229400 Frontofacionasal dysplasia
- ORPHA:1826 Frontometaphyseal dysplasia
- OMIM:305620 Frontometaphyseal dysplasia
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:136760 Frontonasal dysplasia 1
- OMIM:613451 Frontonasal dysplasia 2
- OMIM:613456 Frontonasal dysplasia 3
- ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome
- ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- OMIM:605321 Frontoocular syndrome
- ORPHA:391474 Frontorhiny
- OMIM:615911 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- ORPHA:275872 Frontotemporal dementia with motor neuron disease
- OMIM:600776 Fryns microphthalmia syndrome
- OMIM:229850 Fryns syndrome
- ORPHA:2059 Fryns syndrome
- ORPHA:98974 Fuchs endothelial corneal dystrophy
- OMIM:230000 FUCOSIDOSIS
- ORPHA:349 Fucosidosis
- ORPHA:637 Full NF2-related schwannomatosis
- OMIM:606812 Fumarase deficiency
- ORPHA:91348 Functioning gonadotropic adenoma
- OMIM:136880 Fundus albipunctatus
- OMIM:264420 Fundus dystrophy, pseudoinflammatory, recessive form
- ORPHA:228119 Fusariosis
Code pathologie
Nom de la pathologie
- OMIM:617557 Gabriele-De vries syndrome
- ORPHA:506358 Gabriele-de Vries syndrome
- ORPHA:79237 Galactokinase deficiency
- OMIM:230200 Galactokinase deficiency
- ORPHA:79238 Galactose epimerase deficiency
- ORPHA:570422 Galactose mutarotase deficiency
- OMIM:230400 GALACTOSEMIA
- ORPHA:352 Galactosemia
- OMIM:618881 Galactosemia IV
- ORPHA:351 Galactosialidosis
- OMIM:256540 Galactosialidosis
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:301006 Galloway-Mowat syndrome 2, X-linked
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:617730 Galloway-Mowat syndrome 4
- OMIM:617731 Galloway-Mowat syndrome 5
- OMIM:618349 Galloway-Mowat syndrome 8
- OMIM:619603 Galloway-Mowat syndrome 9
- ORPHA:251937 Gangliocytoma
- OMIM:230740 Gapo syndrome
- ORPHA:2067 GAPO syndrome
- ORPHA:79665 Gardner syndrome
- OMIM:137270 Gastrocutaneous syndrome
- ORPHA:2069 Gastrocutaneous syndrome
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- OMIM:619708 Gastrointestinal defects and immunodeficiency syndrome 2
- ORPHA:355 Gaucher disease
- ORPHA:77260 Gaucher disease type 2
- ORPHA:77261 Gaucher disease type 3
- OMIM:610539 Gaucher disease, atypical
- OMIM:608013 Gaucher disease, perinatal lethal
- OMIM:230800 Gaucher disease, type I
- OMIM:230900 Gaucher disease, type II
- OMIM:231000 Gaucher disease, type III
- OMIM:231005 Gaucher disease, type IIIC
- ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- OMIM:607313 Gaze palsy, familial horizontal, with progressive scoliosis, 1
- OMIM:617542 Gaze palsy, familial horizontal, with progressive scoliosis, 2
- OMIM:614185 Geleophysic dysplasia 2
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome
- ORPHA:411777 Generalized eruptive keratoacanthoma
- ORPHA:254704 Genetic hyperferritinemia without iron overload
- ORPHA:2075 Genitopalatocardiac syndrome
- ORPHA:85201 Genitopatellar syndrome
- OMIM:618820 Genitourinary and/or/brain malformation syndrome
- ORPHA:2077 German syndrome
- ORPHA:2078 Geroderma osteodysplastica
- OMIM:231070 Geroderma osteodysplasticum
- OMIM:137440 Gerstmann-Straussler disease
- OMIM:612917 Giacheti syndrome
- OMIM:256850 Giant axonal neuropathy 1, autosomal recessive
- ORPHA:397 Giant cell arteritis
- OMIM:206700 Gillespie syndrome
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- ORPHA:568051 GJC2-related late-onset primary lymphedema
- OMIM:137750 Glaucoma 1, open angle, A
- OMIM:603383 Glaucoma 1, open angle, F
- OMIM:609887 Glaucoma 1, open angle, G
- OMIM:610535 Glaucoma 1, open angle, M
- OMIM:613100 Glaucoma 1, open angle, O
- OMIM:177700 Glaucoma 1, open angle, P
- OMIM:601682 Glaucoma 1, primary open angle, C
- OMIM:231300 Glaucoma 3, primary congenital, A
- OMIM:613086 Glaucoma 3, primary congenital, D
- OMIM:617272 Glaucoma 3, primary congenital, E
- OMIM:600975 Glaucoma 3, primary infantile, B
- OMIM:137700 Glaucoma with elevated episcleral venous pressure
- OMIM:618880 Glaucoma, primary closed-angle
- OMIM:137760 Glaucoma, primary open angle
- ORPHA:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
- OMIM:600510 Glaucoma-Related pigment dispersion syndrome
- ORPHA:2085 Glaucoma-sleep apnea syndrome
- ORPHA:360 Glioblastoma
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- OMIM:618272 Global developmental delay, lung cysts, overgrowth, and wilms tumor
- 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:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- OMIM:606777 GLUT1 deficiency syndrome 1, infantile onset, severe
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- OMIM:266130 Glutathione synthetase deficiency
- OMIM:231950 GLUTATHIONURIA
- OMIM:307030 Glycerol kinase deficiency
- OMIM:617301 Glycine encephalopathy with normal serum glycine
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- OMIM:232200 Glycogen storage disease Ia
- OMIM:232220 Glycogen storage disease Ib
- OMIM:232400 Glycogen storage disease III
- OMIM:261740 Glycogen storage disease of heart, lethal congenital
- OMIM:611881 Glycogen storage disease XII
- OMIM:617810 Glycosylphosphatidylinositol biosynthesis defect 15
- OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18
- ORPHA:354 GM1 gangliosidosis
- ORPHA:79255 GM1 gangliosidosis type 1
- OMIM:230500 GM1-gangliosidosis, type I
- OMIM:230600 GM1-gangliosidosis, type II
- OMIM:230650 GM1-gangliosidosis, type III
- ORPHA:309246 GM2 gangliosidosis, AB variant
- OMIM:272750 Gm2-Gangliosidosis, ab variant
- ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:2090 GMS syndrome
- OMIM:138770 Gms syndrome
- ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome
- ORPHA:66629 Goldberg-Shprintzen megacolon syndrome
- OMIM:609460 Goldberg-Shprintzen syndrome
- OMIM:233270 Gombo syndrome
- OMIM:601853 Gomez-Lopez-Hernandez syndrome
- ORPHA:1532 Gómez-López-Hernández syndrome
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- ORPHA:169105 Good syndrome
- ORPHA:377 Gorlin syndrome
- ORPHA:2095 Gorlin-Chaudhry-Moss syndrome
- OMIM:602361 Gracile bone dysplasia
- ORPHA:39812 Graft versus host disease
- OMIM:138930 Grant syndrome
- ORPHA:2097 Grant syndrome
- ORPHA:98962 Granular corneal dystrophy type I
- ORPHA:98963 Granular corneal dystrophy type II
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- OMIM:275000 Graves disease
- OMIM:215140 Greenberg skeletal dysplasia
- OMIM:175700 Greig cephalopolysyndactyly syndrome
- ORPHA:380 Greig cephalopolysyndactyly syndrome
- ORPHA:381 Griscelli syndrome
- ORPHA:79476 Griscelli syndrome type 1
- ORPHA:79477 Griscelli syndrome type 2
- ORPHA:79478 Griscelli syndrome type 3
- OMIM:121900 Groenouw type I corneal dystrophy
- OMIM:233800 Grouped pigmentation of the macula
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency
- OMIM:608278 Growth failure, microcephaly, mental retardation, cataracts, largejoint contractures, osteoporosis, cortical dysplasia, and cerebellaratrophy
- OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
- ORPHA:2101 Grubben-de Cock-Borghgraef syndrome
- ORPHA:414 Gyrate atrophy of choroid and retina
- OMIM:258870 Gyrate atrophy of choroid and retina with or without ornithinemia
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- ORPHA:99803 Haddad syndrome
- OMIM:612946 Hadziselimovic syndrome
- OMIM:234250 Hall-Riggs mental retardation syndrome
- ORPHA:2107 Hall-Riggs syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:611174 Hamamy syndrome
- ORPHA:73229 HANAC syndrome
- ORPHA:2438 Hand-foot-genital syndrome
- OMIM:301068 Hardikar syndrome
- OMIM:617183 Harel-Yoon syndrome
- ORPHA:457 Harlequin ichthyosis
- OMIM:601095 Harrod syndrome
- ORPHA:2115 Harrod syndrome
- ORPHA:2116 Hartnup disease
- ORPHA:2117 Hartsfield syndrome
- OMIM:615465 Hartsfield syndrome
- OMIM:616920 Heart and brain malformation syndrome
- ORPHA:2119 HEC syndrome
- OMIM:234580 Heimler syndrome 1
- OMIM:617671 Helix syndrome
- OMIM:615873 Helsmoortel-van der Aa syndrome
- ORPHA:252054 Hemangioblastoma
- OMIM:141300 Hemifacial atrophy, progressive
- OMIM:141350 Hemifacial hyperplasia with strabismus
- OMIM:164210 Hemifacial microsomia
- ORPHA:99802 Hemimegalencephaly
- OMIM:606069 Hemochromatosis, type 4
- OMIM:618660 Hemolytic anemia due to glutathione reductase deficiency
- OMIM:603552 Hemophagocytic lymphohistiocytosis, familial, 4
- OMIM:613730 Hemorrhagic destruction of the brain, subependymal calcification,and cataracts
- ORPHA:340 Hemorrhagic fever-renal syndrome
- OMIM:619641 Hengel-Maroofian-Schols syndrome
- OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome
- OMIM:616006 Hennekam lymphangiectasia-lymphedema syndrome 2
- OMIM:618154 Hennekam lymphangiectasia-lymphedema syndrome 3
- ORPHA:2136 Hennekam syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
- OMIM:614025 Hepatic lipase deficiency
- ORPHA:95159 Hepatoerythropoietic porphyria
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:100050 Hereditary angioedema type 1
- ORPHA:1867 Hereditary bullous dystrophy, macular type
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:469 Hereditary fructose intolerance
- ORPHA:774 Hereditary hemorrhagic telangiectasia
- ORPHA:163 Hereditary hyperferritinemia-cataract syndrome
- ORPHA:411602 Hereditary late-onset Parkinson disease
- ORPHA:523 Hereditary leiomyomatosis and renal cell cancer
- ORPHA:621 Hereditary methemoglobinemia
- OMIM:601152 Hereditary motor and sensory neuropathy VI
- OMIM:606071 Hereditary motor and sensory neuropathy, type IIC
- ORPHA:1839 Hereditary mucoepithelial dysplasia
- ORPHA:1062 Hereditary neurocutaneous malformation
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5
- ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency
- ORPHA:79430 Hermansky-Pudlak syndrome
- OMIM:203300 Hermansky-Pudlak syndrome 1
- OMIM:617050 Hermansky-Pudlak syndrome 10
- OMIM:619172 Hermansky-Pudlak syndrome 11
- OMIM:608233 Hermansky-Pudlak syndrome 2
- OMIM:614072 Hermansky-Pudlak syndrome 3
- OMIM:614073 Hermansky-Pudlak syndrome 4
- OMIM:614074 Hermansky-Pudlak syndrome 5
- OMIM:614075 Hermansky-Pudlak syndrome 6
- OMIM:614076 Hermansky-Pudlak syndrome 7
- OMIM:614077 Hermansky-Pudlak syndrome 8
- OMIM:614171 Hermansky-Pudlak syndrome 9
- ORPHA:137599 Herpes simplex virus stromal keratitis
- OMIM:306955 Heterotaxy, visceral, 1, X-linked
- OMIM:619608 Heterotaxy, visceral, 11, autosomal, with male infertility
- OMIM:300049 Heterotopia, periventricular, X-linked dominant
- OMIM:618724 Heyn-Sproul-Jackson syndrome
- OMIM:619311 Hiatt-Neu-Cooper neurodevelopmental syndrome
- OMIM:235740 Hirschsprung disease with polydactyly, renal agenesis, and deafness
- ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome
- ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome
- OMIM:142625 Hirsutism, skeletal dysplasia, and mental retardation
- ORPHA:137675 Histiocytoid cardiomyopathy
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:79242 Holocarboxylase synthetase deficiency
- ORPHA:2162 Holoprosencephaly
- OMIM:236100 Holoprosencephaly 1
- OMIM:614226 Holoprosencephaly 11
- OMIM:618500 Holoprosencephaly 12 with or without pancreatic agenesis
- OMIM:301043 Holoprosencephaly 13, X-linked
- OMIM:619895 Holoprosencephaly 14
- OMIM:157170 Holoprosencephaly 2
- OMIM:142945 Holoprosencephaly 3
- OMIM:142946 Holoprosencephaly 4
- OMIM:609637 Holoprosencephaly 5
- OMIM:610828 Holoprosencephaly 7
- OMIM:610829 Holoprosencephaly 9
- 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:236130 HOMOCARNOSINOSIS
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:622 Homocystinuria without methylmalonic aciduria
- OMIM:236270 Homocystinuria-megaloblastic anemia, cbl E type
- OMIM:250940 Homocystinuria-megaloblastic anemia, cblg Complementation type
- ORPHA:391665 Homozygous familial hypercholesterolemia
- OMIM:236300 Hooft disease
- ORPHA:2744 Horizontal gaze palsy with progressive scoliosis
- OMIM:143000 Horner syndrome, congenital
- ORPHA:391417 HSD10 disease
- ORPHA:391428 HSD10 disease, infantile type
- OMIM:300438 HSD10 mitochondrial disease
- ORPHA:228116 Hughes-Stovin syndrome
- ORPHA:3265 Humero-radial synostosis
- OMIM:611962 Hunter-Macdonald syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:93476 Hurler-Scheie syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- ORPHA:2177 Hydranencephaly
- ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius
- OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies
- OMIM:600559 Hydrocephalus, endocardial fibroelastosis, and cataracts
- OMIM:600991 Hydrocephalus, skeletal anomalies, and mental disturbance
- ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome
- ORPHA:2189 Hydrolethalus
- OMIM:236680 Hydrolethalus syndrome 1
- OMIM:260920 Hyper-Igd syndrome
- OMIM:147060 Hyper-IgE recurrent infection syndrome
- OMIM:618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive
- OMIM:143880 Hypercalcemia, infantile, 1
- OMIM:143890 Hypercholesterolemia, familial, 1
- OMIM:144010 Hypercholesterolemia, familial, 2
- OMIM:603776 Hypercholesterolemia, familial, 3
- OMIM:614619 Hyperekplexia 2
- OMIM:600886 Hyperferritinemia with or without cataract
- ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome
- ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- ORPHA:682 Hyperkalemic periodic paralysis
- OMIM:238340 HYPERLEUCINE-ISOLEUCINEMIA
- OMIM:615947 Hyperlipoproteinemia, type ID
- OMIM:144300 Hyperlipoproteinemia, type II, and deafness
- ORPHA:2203 Hyperlysinemia
- OMIM:238700 Hyperlysinemia, type I
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- OMIM:238950 Hyperopia, high
- OMIM:238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
- ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- OMIM:239100 Hyperostosis corticalis generalisata
- OMIM:144755 Hyperostosis cranialis interna
- OMIM:259900 Hyperoxaluria, primary, type I
- 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
- ORPHA:79101 Hyperprolinemia type 2
- 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
- OMIM:614187 Hypertelorism, preauricular sinus, punctal pits, and deafness
- ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome
- ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome
- OMIM:609152 Hyperthyroidism, nonautoimmune
- ORPHA:2220 Hypertrichosis cubiti
- OMIM:239900 Hypertrophic neuropathy and cataract
- OMIM:145900 Hypertrophic neuropathy of dejerine-sottas
- OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant
- OMIM:259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1
- OMIM:600627 HYPERTRYPTOPHANEMIA
- OMIM:240000 Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase
- OMIM:618463 Hypoalphalipoproteinemia, primary, 2
- OMIM:615558 Hypobetalipoproteinemia, familial, 1
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- OMIM:240800 Hypoglycemia of infancy, leucine-sensitive
- OMIM:240950 Hypogonadism-Cataract syndrome
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia
- ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:238468 Hypohidrotic ectodermal dysplasia
- ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- OMIM:248250 Hypomagnesemia 3, renal
- OMIM:248190 Hypomagnesemia 5, renal, with or without ocular involvement
- OMIM:241310 Hypomandibular faciocranial dysostosis
- ORPHA:1790 Hypomandibular faciocranial dysostosis
- OMIM:300337 Hypomelanosis of ito
- OMIM:615281 Hypomyelination with brainstem and spinal cord involvement and legspasticity
- ORPHA:85163 Hypomyelination-congenital cataract syndrome
- OMIM:146200 Hypoparathyroidism, familial isolated
- OMIM:146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- OMIM:241510 Hypophosphatasia, childhood
- OMIM:241500 Hypophosphatasia, infantile
- OMIM:618541 Hypopigmentation, organomegaly, and delayed myelination and development
- ORPHA:722 Hypoplasminogenemia
- OMIM:607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
- ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- OMIM:603463 Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
- OMIM:145350 Hypotaurinemic retinal degeneration and cardiomyopathy
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- OMIM:614450 Hypothyroidism, congenital, nongoitrous, 6
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
- OMIM:617915 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- OMIM:616816 Hypotonia, infantile, with psychomotor retardation
- OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
- OMIM:616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:163690 Hypotonia-cystinuria syndrome
- ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome
- ORPHA:1573 Hypotrichosis with juvenile macular degeneration
- OMIM:601553 Hypotrichosis, congenital, with juvenile macular dystrophy
Code pathologie
Nom de la pathologie
- ORPHA:254509 Iatrogenic botulism
- ORPHA:2268 ICF syndrome
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- OMIM:308200 Ichthyosis and male hypogonadism
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:602400 Ichthyosis, congenital, autosomal recessive 11
- OMIM:242500 Ichthyosis, congenital, autosomal recessive 4B
- OMIM:619016 Ichthyosis, follicular, with atrichia and photophobia syndrome 2
- OMIM:602540 Ichthyosis, hystrix-like, with deafness
- OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation
- OMIM:308100 Ichthyosis, X-linked
- ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- OMIM:618527 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
- ORPHA:280914 Idiopathic anterior uveitis
- ORPHA:88 Idiopathic aplastic anemia
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:238624 Idiopathic intracranial hypertension
- ORPHA:280921 Idiopathic panuveitis
- ORPHA:209956 Idiopathic uveal effusion syndrome
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:449427 IgG4-related pachymeningitis
- OMIM:618786 Imagawa-Matsumoto syndrome
- OMIM:242600 IMINOGLYCINURIA
- OMIM:612783 Immunodeficiency 10
- OMIM:615966 Immunodeficiency 26 with or without neurologic abnormalities
- OMIM:616740 Immunodeficiency 46
- OMIM:300972 Immunodeficiency 47
- OMIM:617237 Immunodeficiency 49
- OMIM:618969 Immunodeficiency 70
- OMIM:617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:619774 Immunodeficiency 96
- OMIM:607594 Immunodeficiency, common variable, 1
- OMIM:240500 Immunodeficiency, common variable, 2
- OMIM:613493 Immunodeficiency, common variable, 3
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:242860 Immunodeficiency-Centromeric instability-facial anomalies syndrome
- OMIM:616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3
- OMIM:616911 Immunodeficiency-centromeric instability-facial anomalies syndrome 4
- OMIM:614069 Immunodeficiency-Centromeric instability-facial anomalies syndrome2
- ORPHA:761 Immunoglobulin A vasculitis
- OMIM:300076 Immunoneurologic disorder, X-linked
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- OMIM:617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities
- OMIM:619733 Inclusion body myopathy and brain white matter abnormalities
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- OMIM:308300 Incontinentia pigmenti
- ORPHA:464 Incontinentia pigmenti
- ORPHA:178478 Infant botulism
- OMIM:614559 Infantile cerebellar-retinal degeneration
- ORPHA:1313 Infantile choroidocerebral calcification syndrome
- ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- ORPHA:206436 Infantile Krabbe disease
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:2591 Infantile myofibromatosis
- ORPHA:411629 Infantile nephropathic cystinosis
- ORPHA:35069 Infantile neuroaxonal dystrophy
- ORPHA:79263 Infantile neuronal ceroid lipofuscinosis
- ORPHA:772 Infantile Refsum disease
- OMIM:269920 Infantile sialic acid storage disease
- ORPHA:3173 Infantile spasms-broad thumbs syndrome
- ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis
- ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:1186 Infantile-onset spinocerebellar ataxia
- ORPHA:544482 Infection-related hemolytic uremic syndrome
- OMIM:614328 Inflammatory skin and bowel disease, neonatal, 1
- ORPHA:254504 Inhalational botulism
- ORPHA:282166 Inherited Creutzfeldt-Jakob disease
- 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
- ORPHA:97279 Insulinoma
- OMIM:147630 Insulinomatosis and diabetes mellitus
- OMIM:618522 Intellectual developmental disorder 59
- OMIM:618009 Intellectual developmental disorder 61
- OMIM:618793 Intellectual developmental disorder 62
- OMIM:618195 Intellectual developmental disorder and retinitis pigmentosa
- OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
- OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies
- OMIM:615032 Intellectual developmental disorder with autism and macrocephaly
- OMIM:617173 Intellectual developmental disorder with cardiac arrhythmia
- 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:618092 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
- OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
- OMIM:618147 Intellectual developmental disorder with hypertelorism and distinctive facies
- OMIM:618748 Intellectual developmental disorder with hypotonia and behavioral abnormalities
- OMIM:619556 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:618158 Intellectual developmental disorder with macrocephaly, seizures, and speech delay
- OMIM:617532 Intellectual developmental disorder with neuropsychiatric features
- OMIM:620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features
- OMIM:618060 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
- OMIM:617101 Intellectual developmental disorder with persistence of fetal hemoglobin
- OMIM:618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia
- OMIM:618470 Intellectual developmental disorder with severe speech and ambulation defects
- OMIM:618687 Intellectual developmental disorder with short stature and behavioral abnormalities
- 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:615502 Intellectual developmental disorder, autosomal dominant 21
- OMIM:612337 Intellectual developmental disorder, autosomal dominant 22
- OMIM:615761 Intellectual developmental disorder, autosomal dominant 23
- OMIM:615834 Intellectual developmental disorder, autosomal dominant 26
- OMIM:616083 Intellectual developmental disorder, autosomal dominant 30
- OMIM:616311 Intellectual developmental disorder, autosomal dominant 33
- OMIM:616393 Intellectual developmental disorder, autosomal dominant 38
- OMIM:616579 Intellectual developmental disorder, autosomal dominant 40
- OMIM:616977 Intellectual developmental disorder, autosomal dominant 43
- OMIM:612621 Intellectual developmental disorder, autosomal dominant 5
- OMIM:617796 Intellectual developmental disorder, autosomal dominant 52
- OMIM:617798 Intellectual developmental disorder, autosomal dominant 53
- OMIM:617799 Intellectual developmental disorder, autosomal dominant 54
- OMIM:617854 Intellectual developmental disorder, autosomal dominant 56
- OMIM:618106 Intellectual developmental disorder, autosomal dominant 58
- OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
- OMIM:619188 Intellectual developmental disorder, autosomal dominant 64
- OMIM:619927 Intellectual developmental disorder, autosomal dominant 67
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:249500 Intellectual developmental disorder, autosomal recessive 1
- OMIM:613192 Intellectual developmental disorder, autosomal recessive 13
- OMIM:615637 Intellectual developmental disorder, autosomal recessive 41
- OMIM:615817 Intellectual developmental disorder, autosomal recessive 43
- OMIM:615979 Intellectual developmental disorder, autosomal recessive 45
- 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:618402 Intellectual developmental disorder, autosomal recessive 70
- OMIM:618504 Intellectual developmental disorder, autosomal recessive 71
- OMIM:618665 Intellectual developmental disorder, autosomal recessive 72
- OMIM:619827 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
- OMIM:619931 Intellectual developmental disorder, autosomal recessive 76
- OMIM:619988 Intellectual developmental disorder, autosomal recessive 77
- OMIM:301024 Intellectual developmental disorder, X-linked 108
- OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
- OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type
- OMIM:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge 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:3079 Intellectual disability, Buenos-Aires type
- ORPHA:3080 Intellectual disability, Wolff type
- ORPHA:289483 Intellectual disability-alacrima-achalasia 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:3042 Intellectual disability-cataracts-calcified pinnae-myopathy 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:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
- 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:363528 Intellectual disability-strabismus syndrome
- ORPHA:171433 Intermediate nemaline myopathy
- ORPHA:210110 Intermediate osteopetrosis
- ORPHA:279914 Intermediate uveitis
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- ORPHA:178481 Intestinal botulism
- OMIM:620045 Intestinal dysmotility syndrome
- OMIM:300048 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
- OMIM:243200 Intracranial hypertension, idiopathic
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- ORPHA:64734 Iridocorneal endothelial syndrome
- OMIM:137600 Iridogoniodysgenesis, type 2
- OMIM:308500 Iris hypoplasia with glaucoma
- OMIM:601616 Iris pigment epithelium anomalies
- OMIM:147610 Iris pigment layer, cleavage of
- ORPHA:209943 IRVAN syndrome
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:250923 Isolated aniridia
- ORPHA:1134 Isolated arrhinia
- ORPHA:30391 Isolated biliary atresia
- ORPHA:1398 Isolated cerebellar agenesis
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:91416 Isolated congenital alacrima
- ORPHA:1885 Isolated ectopia lentis
- ORPHA:563612 Isolated exencephaly
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- ORPHA:137902 Isolated optic nerve hypoplasia/aplasia
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:2440 Isolated split hand-split foot malformation
- ORPHA:3208 Isolated succinate-CoQ reductase 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
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- ORPHA:1873 Jalili syndrome
- OMIM:217080 Jalili syndrome
- ORPHA:79139 Japanese encephalitis
- ORPHA:139431 Jeavons syndrome
- ORPHA:474 Jeune syndrome
- OMIM:243800 Johanson-Blizzard syndrome
- ORPHA:2315 Johanson-Blizzard syndrome
- 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:615636 Joubert syndrome 21
- OMIM:615665 Joubert syndrome 22
- OMIM:616490 Joubert syndrome 23
- OMIM:616654 Joubert syndrome 24
- OMIM:616781 Joubert syndrome 25
- OMIM:616784 Joubert syndrome 26
- OMIM:617120 Joubert syndrome 27
- OMIM:617121 Joubert syndrome 28
- OMIM:608629 Joubert syndrome 3
- OMIM:617622 Joubert syndrome 30
- OMIM:617761 Joubert syndrome 31
- OMIM:617757 Joubert syndrome 32
- OMIM:617767 Joubert syndrome 33
- OMIM:618161 Joubert syndrome 35
- OMIM:618763 Joubert syndrome 36
- OMIM:619185 Joubert syndrome 37
- OMIM:619476 Joubert syndrome 38
- OMIM:619562 Joubert syndrome 39
- OMIM:609583 Joubert syndrome 4
- OMIM:619582 Joubert syndrome 40
- OMIM:610188 Joubert syndrome 5
- OMIM:610688 Joubert syndrome 6
- OMIM:611560 Joubert syndrome 7
- OMIM:612291 Joubert syndrome 8
- OMIM:612285 Joubert syndrome 9
- 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:1941 Juvenile absence epilepsy
- ORPHA:300605 Juvenile amyotrophic lateral sclerosis
- ORPHA:98977 Juvenile glaucoma
- ORPHA:92 Juvenile idiopathic arthritis
- ORPHA:307 Juvenile myoclonic epilepsy
- ORPHA:289596 Juvenile nasopharyngeal angiofibroma
- ORPHA:411634 Juvenile nephropathic cystinosis
- ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis
- ORPHA:2801 Juvenile Paget disease
- ORPHA:79076 Juvenile polyposis of infancy
- ORPHA:2929 Juvenile polyposis syndrome
- ORPHA:93399 Juvenile sialidosis type 2
- ORPHA:26137 Juvenile temporal arteritis
- ORPHA:158000 Juvenile xanthogranuloma
Code pathologie
Nom de la pathologie
- ORPHA:2322 Kabuki syndrome
- OMIM:147920 Kabuki syndrome 1
- OMIM:300867 Kabuki syndrome 2
- 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:609242 Kanzaki disease
- ORPHA:33276 Kaposi sarcoma
- ORPHA:464329 Kaposiform lymphangiomatosis
- OMIM:244300 Kapur-Toriello syndrome
- ORPHA:2328 Kapur-Toriello syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- ORPHA:2331 Kawasaki disease
- OMIM:619125 Kaya-Barakat-Masson syndrome
- OMIM:148050 KBG syndrome
- ORPHA:2332 KBG syndrome
- ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability
- OMIM:530000 Kearns-Sayre syndrome
- ORPHA:480 Kearns-Sayre syndrome
- OMIM:301026 Keipert syndrome
- ORPHA:2662 Keipert syndrome
- OMIM:244460 Kenny-caffey syndrome, type 1
- OMIM:127000 Kenny-caffey syndrome, type 2
- ORPHA:435628 Keppen-Lubinsky syndrome
- OMIM:614098 Keppen-Lubinsky syndrome
- OMIM:148190 Keratitis, hereditary
- OMIM:148210 Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant
- OMIM:148300 Keratoconus 1
- OMIM:614622 Keratoconus 5
- OMIM:614623 Keratoconus 6
- OMIM:614629 Keratoconus 7
- OMIM:614628 Keratoconus 8
- OMIM:617928 Keratoconus 9
- OMIM:244600 Keratoconus posticus circumscriptus
- OMIM:148200 Keratoendotheliitis fugax hereditaria
- OMIM:612843 Keratosis follicularis spinulosa decalvans, autosomal dominant
- OMIM:308800 Keratosis follicularis spinulosa decalvans, X-linked
- OMIM:604093 Keratosis pilaris atrophicans
- ORPHA:85202 Keutel syndrome
- OMIM:618460 Khan-Khan-Katsanis syndrome
- ORPHA:477 KID syndrome
- OMIM:619080 Kilquist syndrome
- ORPHA:2908 Kindler epidermolysis bullosa
- OMIM:173650 Kindler syndrome
- OMIM:619542 King-Denborough syndrome
- OMIM:619297 KINSSHIP syndrome
- OMIM:148800 Kleeblattschaedel syndrome
- OMIM:610253 Kleefstra syndrome
- ORPHA:261494 Kleefstra syndrome
- ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion
- ORPHA:261652 Kleefstra syndrome due to a point mutation
- OMIM:613702 Klippel-Feil syndrome 3, autosomal dominant
- OMIM:616549 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
- 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:1571 Knobloch syndrome
- OMIM:618458 Knobloch syndrome 2
- OMIM:267750 Knobloch syndrome, type 1
- 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
- OMIM:245200 Krabbe disease
- OMIM:606693 Kufor-Rakeb syndrome
- ORPHA:306674 Kufor-Rakeb syndrome
- OMIM:619762 Kury-Isidor 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
- OMIM:149500 Kyrle disease
Code pathologie
Nom de la pathologie
- OMIM:236792 L-2-hydroxyglutaric aciduria
- OMIM:149700 Lacrimal duct defect
- OMIM:149730 Lacrimoauriculodentodigital syndrome
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- OMIM:245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID
- ORPHA:530983 Lamb-Shaffer syndrome
- OMIM:616803 Lamb-Shaffer syndrome
- ORPHA:43393 Lambert-Eaton myasthenic syndrome
- OMIM:245552 Lambotte syndrome
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy
- OMIM:617182 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
- 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
- ORPHA:99824 Lassa fever
- ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis
- ORPHA:206443 Late-infantile/juvenile Krabbe disease
- ORPHA:79406 Late-onset junctional epidermolysis bullosa
- OMIM:605670 Late-Onset retinal degeneration
- ORPHA:67042 Late-onset retinal degeneration
- OMIM:130720 Lateral meningocele syndrome
- ORPHA:2789 Lateral meningocele syndrome
- OMIM:607330 Lathosterolosis
- ORPHA:46059 Lathosterolosis
- ORPHA:98964 Lattice corneal dystrophy type I
- OMIM:150500 Lattice degeneration of retina leading to retinal detachment
- OMIM:245800 Laurence-Moon syndrome
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:2378 Laurin-Sandrow syndrome
- ORPHA:650 LCAT deficiency
- ORPHA:65 Leber congenital amaurosis
- OMIM:611755 Leber congenital amaurosis 10
- OMIM:613837 Leber congenital amaurosis 11
- OMIM:610612 Leber congenital amaurosis 12
- OMIM:612712 Leber congenital amaurosis 13
- OMIM:613341 Leber congenital amaurosis 14
- OMIM:613843 Leber congenital amaurosis 15
- OMIM:614186 Leber congenital amaurosis 16
- OMIM:615360 Leber congenital amaurosis 17
- OMIM:618513 Leber congenital amaurosis 19
- OMIM:604393 Leber congenital amaurosis 4
- OMIM:604537 Leber congenital amaurosis 5
- OMIM:613826 Leber congenital amaurosis 6
- OMIM:613829 Leber congenital amaurosis 7
- OMIM:613835 Leber congenital amaurosis 8
- OMIM:608553 Leber congenital amaurosis 9
- OMIM:617879 Leber congenital amaurosis with early-onset deafness
- OMIM:204000 Leber congenital amaurosis, type I
- OMIM:204100 Leber congenital amaurosis, type II
- OMIM:604232 Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive
- ORPHA:104 Leber hereditary optic neuropathy
- OMIM:619382 Leber hereditary optic neuropathy, autosomal recessive
- OMIM:535000 Leber optic atrophy
- OMIM:500001 Leber optic atrophy and dystonia
- OMIM:308905 Leber optic atrophy, susceptibility to
- OMIM:245900 Lecithin:cholesterol acyltransferase deficiency
- OMIM:246000 Leg, absence deformity of, with congenital cataract
- ORPHA:137605 Legius syndrome
- OMIM:611431 Legius syndrome
- OMIM:256000 Leigh syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:70474 Leigh syndrome with cardiomyopathy
- ORPHA:255241 Leigh syndrome with leukodystrophy
- ORPHA:255249 Leigh syndrome with nephrotic syndrome
- OMIM:220111 Leigh syndrome, french Canadian type
- OMIM:308940 Leiomyomatosis, diffuse, with alport syndrome
- ORPHA:140936 Lelis syndrome
- OMIM:150900 LENTIGINES
- 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:509 Leptospirosis
- ORPHA:2900 Leri pleonosteosis
- OMIM:619149 Lessel-Kreienkamp syndrome
- ORPHA:1187 Lethal ataxia with deafness and optic atrophy
- OMIM:607598 Lethal congenital contracture syndrome 2
- OMIM:615368 Lethal congenital contracture syndrome 5
- OMIM:616503 Lethal congenital contracture syndrome 9
- ORPHA:1486 Lethal congenital contracture syndrome type 1
- ORPHA:254857 Lethal infantile mitochondrial myopathy
- ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:1832 Lethal osteosclerotic bone dysplasia
- OMIM:601356 Lethal short-limb skeletal dysplasia, al Gazali type
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:616763 Leukodystrophy and acquired microcephaly with or without dystonia
- OMIM:169500 Leukodystrophy, adult-onset, autosomal dominant
- OMIM:616420 Leukodystrophy, hypomyelinating, 10
- OMIM:616494 Leukodystrophy, hypomyelinating, 11
- OMIM:616683 Leukodystrophy, hypomyelinating, 12
- OMIM:616881 Leukodystrophy, hypomyelinating, 13
- OMIM:617899 Leukodystrophy, hypomyelinating, 14
- OMIM:617951 Leukodystrophy, hypomyelinating, 15
- OMIM:617964 Leukodystrophy, hypomyelinating, 16
- OMIM:618404 Leukodystrophy, hypomyelinating, 18
- OMIM:618688 Leukodystrophy, hypomyelinating, 19, transient infantile
- OMIM:608804 Leukodystrophy, hypomyelinating, 2
- OMIM:619071 Leukodystrophy, hypomyelinating, 20
- OMIM:619310 Leukodystrophy, hypomyelinating, 21
- OMIM:619328 Leukodystrophy, hypomyelinating, 22
- OMIM:619851 Leukodystrophy, hypomyelinating, 24
- OMIM:260600 Leukodystrophy, hypomyelinating, 3
- OMIM:612233 Leukodystrophy, hypomyelinating, 4
- OMIM:610532 Leukodystrophy, hypomyelinating, 5
- OMIM:612438 Leukodystrophy, hypomyelinating, 6
- OMIM:607694 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism
- OMIM:614381 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
- OMIM:616140 Leukodystrophy, hypomyelinating, 9
- OMIM:617762 Leukodystrophy, progressive, early childhood-onset
- OMIM:615651 Leukoencephalopathy with ataxia
- ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts
- ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- OMIM:611105 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- OMIM:613724 Leukoencephalopathy with dystonia and motor neuropathy
- OMIM:300660 Leukoencephalopathy with metaphyseal chondrodysplasia
- OMIM:603896 Leukoencephalopathy with vanishing white matter
- OMIM:612951 Leukoencephalopathy, cystic, without megalencephaly
- OMIM:619661 Leukoencephalopathy, hereditary diffuse, with spheroids 2
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- OMIM:615889 Leukoencephalopathy, progressive, with ovarian failure
- ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- ORPHA:2387 Leukonychia totalis
- OMIM:151610 Levator-Medial rectus synkinesis
- OMIM:619189 Li-Campeau syndrome
- OMIM:618974 Li-Ghorgani-Weisz-Hubshman syndrome
- OMIM:618729 Liang-Wang syndrome
- OMIM:618889 Liberfarb syndrome
- ORPHA:254478 Lichen planus pemphigoides
- OMIM:616291 Lichtenstein-Knorr syndrome
- OMIM:606593 Lig4 syndrome
- ORPHA:2369 Limb body wall complex
- OMIM:609115 Limb-girdle muscular dystrophy, type 1G
- ORPHA:69085 Limb-mammary syndrome
- ORPHA:171673 Limbal stem cell deficiency
- 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
- OMIM:300952 Linear skin defects with multiple congenital anomalies 3
- ORPHA:2611 Linear verrucous nevus syndrome
- OMIM:606721 Lipodystrophy, familial partial, type 7
- OMIM:608154 Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones
- OMIM:618873 Lissencephaly 10
- OMIM:615191 Lissencephaly 5
- OMIM:617255 Lissencephaly 8
- OMIM:618325 Lissencephaly 9 with complex brainstem malformation
- ORPHA:95232 Lissencephaly due to LIS1 mutation
- ORPHA:171680 Lissencephaly due to TUBA1A mutation
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- OMIM:300067 Lissencephaly, X-linked, 1
- OMIM:300215 Lissencephaly, X-linked, 2
- ORPHA:533 Listeriosis
- OMIM:619991 Liver disease, severe congenital
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form
- ORPHA:90289 Localized scleroderma
- ORPHA:2406 Locked-in syndrome
- 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
- ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency
- ORPHA:168 Loose anagen syndrome
- OMIM:617435 Lopes-Maciel-Rodan syndrome
- OMIM:309000 Lowe syndrome
- ORPHA:2409 Lowry-MacLean syndrome
- OMIM:600252 Lowry-Maclean syndrome
- OMIM:226960 Lowry-Wood syndrome
- ORPHA:1824 Lowry-Wood syndrome
- OMIM:309520 Lujan-Fryns syndrome
- ORPHA:319213 Lujo hemorrhagic fever
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:619460 Luo-Schoch-Yamamoto syndrome
- ORPHA:91546 Lyme disease
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- ORPHA:538 Lymphangioleiomyomatosis
- OMIM:614038 Lymphedema, primary, with myelodysplasia
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:153400 Lymphedema-Distichiasis syndrome
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- ORPHA:79128 Lymphoid interstitial pneumonia
- OMIM:615122 Lymphoproliferative syndrome 2
- ORPHA:144 Lynch syndrome
Code pathologie
Nom de la pathologie
- OMIM:606369 Macrocephaly and epileptic encephalopathy
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- OMIM:617011 Macrocephaly, dysmorphic facies, and psychomotor retardation
- OMIM:619769 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome
- OMIM:248000 Macrocephaly/megalencephaly syndrome, autosomal recessive
- OMIM:602499 Macrophthalmia, colobomatous, with microcornea
- OMIM:248110 Macrosomia with microphthalmia, lethal
- ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome
- ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:98969 Macular corneal dystrophy
- OMIM:603075 Macular degeneration, age-related, 1
- OMIM:611953 Macular degeneration, age-related, 11
- OMIM:615439 Macular degeneration, age-related, 13
- OMIM:615591 Macular degeneration, age-related, 15, susceptibility to
- OMIM:153800 Macular degeneration, age-related, 2
- OMIM:608895 Macular degeneration, age-related, 3
- OMIM:610698 Macular degeneration, age-related, 4
- OMIM:613757 Macular degeneration, age-related, 6
- OMIM:616118 Macular degeneration, early-onset
- OMIM:300834 Macular degeneration, X-linked atrophic
- OMIM:616170 Macular dystrophy with central cone involvement
- OMIM:153870 Macular dystrophy, concentric annular
- OMIM:217800 Macular dystrophy, corneal, 1
- OMIM:153890 Macular dystrophy, fenestrated Sheen type
- OMIM:169150 Macular dystrophy, patterned, 1
- OMIM:608970 Macular dystrophy, patterned, 2
- OMIM:617111 Macular dystrophy, patterned, 3
- OMIM:136550 Macular dystrophy, retinal, 1, north Carolina type
- OMIM:608051 Macular dystrophy, retinal, 2
- OMIM:608850 Macular dystrophy, retinal, 3
- OMIM:619977 Macular dystrophy, retinal, 4
- OMIM:153840 Macular dystrophy, vitelliform, 1
- OMIM:153700 Macular dystrophy, vitelliform, 2
- OMIM:608161 Macular dystrophy, vitelliform, 3
- OMIM:616151 Macular dystrophy, vitelliform, 4
- OMIM:616152 Macular dystrophy, vitelliform, 5
- OMIM:309100 Macular dystrophy, X-linked
- OMIM:153880 Macular edema, cystoid
- ORPHA:137867 Madras motor neuron disease
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- ORPHA:210272 Mal de débarquement
- ORPHA:420179 Malan overgrowth syndrome
- OMIM:614753 Malan syndrome
- ORPHA:673 Malaria
- ORPHA:679 Malignant atrophic papulosis
- OMIM:212112 Malouf syndrome
- ORPHA:52417 MALT lymphoma
- ORPHA:397941 MAN1B1-CDG
- OMIM:615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- 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:602562 Mandibulofacial dysostosis with macroblepharon and macrostomia
- OMIM:608257 Mandibulofacial dysostosis with ptosis, autosomal dominant
- ORPHA:306682 Manganese poisoning
- OMIM:248450 Manitoba oculotrichoanal syndrome
- OMIM:248510 Mannosidosis, beta
- OMIM:619322 Marbach-Rustad progeroid syndrome
- OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome
- ORPHA:99826 Marburg hemorrhagic fever
- ORPHA:221074 Marchiafava-Bignami disease
- OMIM:154600 Marcus gunn phenomenon
- ORPHA:91412 Marcus-Gunn syndrome
- ORPHA:2461 Marden-Walker syndrome
- OMIM:248700 Marden-Walker syndrome
- OMIM:616914 Marfan lipodystrophy syndrome
- OMIM:154700 Marfan syndrome
- ORPHA:558 Marfan syndrome
- 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:147430 Marsili syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:619420 Martsolf syndrome 2
- OMIM:303350 MASA syndrome
- OMIM:604308 Mass 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:96181 Maternal uniparental disomy of chromosome 6
- ORPHA:96183 Maternal uniparental disomy of chromosome 9
- ORPHA:225 Maternally-inherited diabetes and deafness
- ORPHA:2470 Matthew-Wood syndrome
- ORPHA:562 McCune-Albright syndrome
- OMIM:174800 McCune-Albright syndrome, somatic, mosaic
- ORPHA:2471 McDonough syndrome
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:617562 Meckel syndrome 13
- OMIM:619879 Meckel syndrome 14
- 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:613885 Meckel syndrome, type 8
- ORPHA:616 Medulloblastoma
- OMIM:122100 Meesmann corneal dystrophy 1
- OMIM:618767 Meesmann corneal dystrophy 2
- OMIM:300989 Meester-Loeys syndrome
- OMIM:618273 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- OMIM:619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
- OMIM:619365 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
- OMIM:249230 Megaepiphyseal dwarfism
- ORPHA:2477 Megalencephaly
- ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- OMIM:603387 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- OMIM:309300 MEGALOCORNEA
- ORPHA:2479 Megalocornea-intellectual disability syndrome
- OMIM:249310 Megalocornea-Mental retardation syndrome
- ORPHA:85282 MEHMO syndrome
- OMIM:300148 Mehmo syndrome
- OMIM:224690 Meier-Gorlin syndrome 1
- OMIM:616835 Meier-Gorlin syndrome 6
- OMIM:617063 Meier-Gorlin syndrome 7
- OMIM:137550 Melanocytic nevus syndrome, congenital
- OMIM:155600 Melanoma, cutaneous malignant
- OMIM:155700 Melanoma, malignant familial intraocular
- OMIM:155720 Melanoma, uveal
- OMIM:606661 Melanoma, uveal, susceptibility to, 2
- ORPHA:550 MELAS
- ORPHA:2483 Melkersson-Rosenthal syndrome
- OMIM:155900 Melkersson-Rosenthal syndrome
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- OMIM:155980 Membranous cranial ossification, delayed
- OMIM:300960 Mend syndrome
- ORPHA:401973 MEND syndrome
- ORPHA:2495 Meningioma
- ORPHA:33475 Meningococcal meningitis
- OMIM:618332 Menke-Hennekam syndrome 1
- OMIM:618333 Menke-Hennekam syndrome 2
- OMIM:156190 Mental and growth retardation with amblyopia
- OMIM:616789 Mental retardation and distinctive facial features with or without cardiac defects
- OMIM:300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
- OMIM:249599 Mental retardation syndrome, Belgian type
- OMIM:249600 Mental retardation syndrome, Mietens-Weber type
- OMIM:300261 Mental retardation syndrome, X-linked, Armfield type
- OMIM:613670 Mental retardation with language impairment and with or without autistic features
- OMIM:309555 Mental retardation with optic atrophy, deafness, and seizures
- OMIM:609037 Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature
- OMIM:613671 Mental retardation, anterior maxillary protrusion, and strabismus
- 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:616158 Mental retardation, autosomal dominant 31
- OMIM:616351 Mental retardation, autosomal dominant 34
- OMIM:616355 Mental retardation, autosomal dominant 35
- OMIM:616362 Mental retardation, autosomal dominant 36
- OMIM:612581 Mental retardation, autosomal dominant 4
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:617061 Mental retardation, autosomal dominant 44
- OMIM:617635 Mental retardation, autosomal dominant 47
- 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:615162 Mental retardation, autosomal recessive 35
- OMIM:615516 Mental retardation, autosomal recessive 38
- OMIM:615541 Mental retardation, autosomal recessive 39
- OMIM:249630 Mental retardation, buenos Aires type
- OMIM:609313 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
- OMIM:609438 Mental retardation, keratoconus, febrile seizures, and sinoatrialblock
- OMIM:606242 Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism
- OMIM:606772 Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies
- OMIM:610156 Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome
- OMIM:309530 Mental retardation, X-linked 1
- OMIM:300928 Mental retardation, X-linked 101
- OMIM:300983 Mental retardation, X-linked 104
- OMIM:300997 Mental retardation, X-linked 106
- OMIM:300957 Mental retardation, X-linked 12/35
- OMIM:300143 Mental retardation, X-linked 21
- OMIM:300558 Mental retardation, X-linked 30
- OMIM:300210 Mental retardation, X-linked 58
- OMIM:300850 Mental retardation, X-linked 90
- OMIM:300851 Mental retardation, X-linked 92
- OMIM:300699 Mental retardation, X-linked 94
- OMIM:300912 Mental retardation, X-linked 98
- 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:300858 Mental retardation, X-linked, syndromic 17
- 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:300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type
- OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- OMIM:300860 Mental retardation, X-linked, syndromic, Nascimento type
- OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type
- OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
- ORPHA:508093 MEPAN syndrome
- ORPHA:551 MERRF
- OMIM:249660 Mesangial sclerosis, diffuse renal, with ocular abnormalities
- OMIM:600383 Mesomelia-Synostoses syndrome
- ORPHA:2496 Mesomelia-synostoses syndrome
- ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type
- ORPHA:2633 Mesomelic dysplasia, Nievergelt type
- OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- OMIM:250100 Metachromatic leukodystrophy
- ORPHA:512 Metachromatic leukodystrophy
- ORPHA:309271 Metachromatic leukodystrophy, adult form
- ORPHA:309263 Metachromatic leukodystrophy, juvenile form
- ORPHA:309256 Metachromatic leukodystrophy, late infantile form
- ORPHA:1240 Metaphyseal acroscyphodysplasia
- OMIM:156400 Metaphyseal chondrodysplasia, Jansen 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
- ORPHA:2635 Metatropic dysplasia
- ORPHA:31825 Methanol poisoning
- OMIM:250800 Methemoglobinemia due to deficiency of methemoglobin reductase
- OMIM:250900 Methionine malabsorption syndrome
- ORPHA:2169 Methylcobalamin deficiency type cblE
- OMIM:614105 Methylmalonate semialdehyde dehydrogenase deficiency
- ORPHA:26 Methylmalonic acidemia with homocystinuria
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type
- OMIM:277410 Methylmalonic aciduria and homocystinuria, Cbld type
- OMIM:614857 Methylmalonic aciduria and homocystinuria, Cblj type
- ORPHA:29 Mevalonic aciduria
- OMIM:610377 Mevalonic aciduria
- ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:79329 MGAT2-CDG
- ORPHA:2510 Micro syndrome
- 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: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
- ORPHA:2617 Microcephalic primordial dwarfism, Montreal type
- OMIM:210700 Microcephalic primordial dwarfism, Montreal type
- OMIM:251190 Microcephalic primordial dwarfism, Toriello type
- ORPHA:2643 Microcephalic primordial dwarfism, Toriello type
- ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome
- OMIM:615095 Microcephaly 10, primary, autosomal recessive
- OMIM:616051 Microcephaly 13, primary, autosomal recessive
- OMIM:616681 Microcephaly 16, primary, autosomal recessive
- OMIM:617090 Microcephaly 17, primary, autosomal recessive
- OMIM:617800 Microcephaly 19, primary, autosomal recessive
- OMIM:617914 Microcephaly 20, primary, autosomal recessive
- OMIM:619179 Microcephaly 26, primary, autosomal dominant
- OMIM:620047 Microcephaly 29, primary, autosomal recessive
- OMIM:604804 Microcephaly 3, primary, autosomal recessive
- OMIM:604321 Microcephaly 4, primary, autosomal recessive
- OMIM:608716 Microcephaly 5, primary, autosomal recessive
- OMIM:251270 Microcephaly and chorioretinopathy, autosomal recessive, 1
- OMIM:616171 Microcephaly and chorioretinopathy, autosomal recessive, 2
- OMIM:616335 Microcephaly and chorioretinopathy, autosomal recessive, 3
- OMIM:152950 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
- OMIM:156580 Microcephaly, autosomal dominant
- OMIM:618284 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
- OMIM:616834 Microcephaly, congenital cataract, and psoriasiform dermatitis
- OMIM:601420 Microcephaly, corpus callosum dysgenesis, and cleft lip/palate
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome
- OMIM:618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- OMIM:618346 Microcephaly, growth deficiency, seizures, and brain malformations
- OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
- OMIM:608393 Microcephaly, primary autosomal recessive, 6
- OMIM:615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
- OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications
- OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2
- OMIM:614833 Microcephaly, short stature, and polymicrogyria with or without seizures
- ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome
- ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome
- OMIM:614261 Microcephaly-Capillary malformation syndrome
- ORPHA:2515 Microcephaly-cardiomyopathy syndrome
- ORPHA:2522 Microcephaly-cervical spine fusion anomalies 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:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type
- OMIM:251230 Microcephaly-Micromelia syndrome
- ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
- ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome
- OMIM:156600 Microcoria, congenital
- OMIM:156700 Microcornea, glaucoma, and absent frontal sinuses
- OMIM:615458 Microcornea, myopic chorioretinal atrophy, and telecanthus
- OMIM:619082 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
- ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome
- ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
- ORPHA:280200 Microform holoprosencephaly
- 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:139471 Microphthalmia with brain and digit anomalies
- OMIM:610092 Microphthalmia with coloboma 3
- OMIM:607597 Microphthalmia with cyst, bilateral facial clefts, and limb anomalies
- OMIM:251700 Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies
- OMIM:206920 Microphthalmia with limb anomalies
- ORPHA:1106 Microphthalmia with limb anomalies
- ORPHA:2556 Microphthalmia with linear skin defects syndrome
- OMIM:251600 Microphthalmia, isolated 1
- OMIM:610093 Microphthalmia, isolated 2
- OMIM:611038 Microphthalmia, isolated 3
- OMIM:613094 Microphthalmia, isolated 4
- OMIM:611040 Microphthalmia, isolated 5
- OMIM:613517 Microphthalmia, isolated 6
- OMIM:613704 Microphthalmia, isolated 7
- OMIM:615113 Microphthalmia, isolated 8
- OMIM:156850 Microphthalmia, isolated, with cataract 1
- OMIM:616428 Microphthalmia, isolated, with coloboma 10
- OMIM:251505 Microphthalmia, isolated, with coloboma 4
- OMIM:611638 Microphthalmia, isolated, with coloboma 5
- OMIM:613703 Microphthalmia, isolated, with coloboma 6
- OMIM:614497 Microphthalmia, isolated, with coloboma 7
- OMIM:615145 Microphthalmia, isolated, with coloboma 9
- OMIM:156900 Microphthalmia, isolated, with corectopia
- ORPHA:568 Microphthalmia, Lenz type
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:614402 Microphthalmia, syndromic 11
- OMIM:615524 Microphthalmia, syndromic 12
- OMIM:300915 Microphthalmia, syndromic 13
- OMIM:300166 Microphthalmia, syndromic 2
- OMIM:206900 Microphthalmia, syndromic 3
- OMIM:610125 Microphthalmia, syndromic 5
- OMIM:607932 Microphthalmia, syndromic 6
- OMIM:601349 Microphthalmia, syndromic 8
- OMIM:601186 Microphthalmia, syndromic 9
- ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome
- ORPHA:77299 Microphthalmia-brain atrophy syndrome
- ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome
- OMIM:615877 Microphthalmia/coloboma and skeletal dysplasia syndrome
- ORPHA:727 Microscopic polyangiitis
- OMIM:251750 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
- OMIM:157150 Microspherophakia with hernia
- ORPHA:2552 Microsporidiosis
- ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct 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:157300 Migraine with or without aura, susceptibility to, 1
- OMIM:610208 Migraine with or without aura, susceptibility to, 10
- OMIM:610209 Migraine with or without aura, susceptibility to, 11
- OMIM:611706 Migraine with or without aura, susceptibility to, 12
- OMIM:607498 Migraine with or without aura, susceptibility to, 3
- OMIM:607508 Migraine with or without aura, susceptibility to, 5
- OMIM:607516 Migraine with or without aura, susceptibility to, 6
- OMIM:607501 Migraine without aura, susceptibility to, 4
- OMIM:141500 Migraine, familial hemiplegic, 1
- OMIM:602481 Migraine, familial hemiplegic, 2
- OMIM:609634 Migraine, familial hemiplegic, 3
- OMIM:300125 Migraine, familial typical, susceptibility to, 2
- ORPHA:314918 Mild Canavan disease
- ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- OMIM:255320 Minicore myopathy with external ophthalmoplegia
- OMIM:619097 Mismatch repair cancer syndrome 3
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618233 Mitochondrial complex I deficiency, nuclear type 10
- OMIM:618234 Mitochondrial complex I deficiency, nuclear type 11
- OMIM:301020 Mitochondrial complex I deficiency, nuclear type 12
- OMIM:618236 Mitochondrial complex I deficiency, nuclear type 14
- OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15
- OMIM:618238 Mitochondrial complex I deficiency, nuclear type 16
- OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18
- OMIM:618241 Mitochondrial complex I deficiency, nuclear type 19
- OMIM:618222 Mitochondrial complex I deficiency, nuclear type 2
- OMIM:618242 Mitochondrial complex I deficiency, nuclear type 21
- OMIM:618247 Mitochondrial complex I deficiency, nuclear type 26
- OMIM:618248 Mitochondrial complex I deficiency, nuclear type 27
- OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28
- OMIM:618251 Mitochondrial complex I deficiency, nuclear type 31
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:618776 Mitochondrial complex I deficiency, nuclear type 34
- OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36
- OMIM:618225 Mitochondrial complex I deficiency, nuclear type 4
- OMIM:618226 Mitochondrial complex I deficiency, nuclear type 5
- OMIM:618228 Mitochondrial complex I deficiency, nuclear type 6
- OMIM:618229 Mitochondrial complex I deficiency, nuclear type 7
- OMIM:618230 Mitochondrial complex I deficiency, nuclear type 8
- OMIM:618232 Mitochondrial complex I deficiency, nuclear type 9
- OMIM:252011 Mitochondrial complex II deficiency
- OMIM:619167 Mitochondrial complex II deficiency, nuclear type 3
- OMIM:124000 Mitochondrial complex III deficiency, nuclear type 1
- OMIM:618775 Mitochondrial complex III deficiency, nuclear type 10
- OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2
- OMIM:615453 Mitochondrial complex III deficiency, nuclear type 6
- OMIM:615838 Mitochondrial complex III deficiency, nuclear type 8
- OMIM:220110 Mitochondrial complex IV deficiency, nuclear type 1
- OMIM:619053 Mitochondrial complex IV deficiency, nuclear type 10
- OMIM:619055 Mitochondrial complex IV deficiency, nuclear type 12
- OMIM:619058 Mitochondrial complex IV deficiency, nuclear type 14
- OMIM:619059 Mitochondrial complex IV deficiency, nuclear type 15
- OMIM:604377 Mitochondrial complex IV deficiency, nuclear type 2
- OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 20
- OMIM:619355 Mitochondrial complex IV deficiency, nuclear type 22
- OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3
- OMIM:619051 Mitochondrial complex IV deficiency, nuclear type 7
- OMIM:619052 Mitochondrial complex IV deficiency, nuclear type 8
- OMIM:614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- OMIM:615228 Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
- OMIM:618683 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6
- OMIM:603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
- OMIM:619425 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)
- OMIM:619780 Mitochondrial DNA depletion syndrome 20 (MNGIE type)
- OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- OMIM:203700 Mitochondrial DNA depletion syndrome 4A (Alpers type)
- OMIM:613662 Mitochondrial DNA depletion syndrome 4B (mngie type)
- OMIM:612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
- OMIM:256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- OMIM:612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form
- ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome
- ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss
- ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia
- ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration
- ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia
- OMIM:540000 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
- 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
- OMIM:614741 Mitochondrial pyruvate carrier deficiency
- OMIM:616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
- OMIM:609015 Mitochondrial trifunctional protein deficiency
- ORPHA:746 Mitochondrial trifunctional protein deficiency
- ORPHA:809 Mixed connective tissue disease
- ORPHA:3434 MMEP syndrome
- ORPHA:552 MODY
- 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:252150 Molybdenum cofactor deficiency, complementation group A
- OMIM:252160 Molybdenum cofactor deficiency, complementation group B
- OMIM:157980 MOMO syndrome
- ORPHA:2563 MOMO syndrome
- ORPHA:573 Monilethrix
- ORPHA:1587 Monosomy 13q14
- ORPHA:96168 Monosomy 13q34
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:281 Monosomy 5p
- ORPHA:261112 Monosomy 9p
- ORPHA:77301 Monosomy 9q22.3
- ORPHA:99226 Monosomy X
- ORPHA:75858 MORM syndrome
- ORPHA:35737 Morning glory disc anomaly
- OMIM:252300 Morquio syndrome C
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1692 Mosaic trisomy 1
- ORPHA:1703 Mosaic trisomy 14
- 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:257300 Mosaic variegated aneuploidy syndrome 1
- OMIM:614114 Mosaic variegated aneuploidy syndrome 2
- OMIM:617598 Mosaic variegated aneuploidy syndrome 3
- ORPHA:2152 Mowat-Wilson syndrome
- OMIM:235730 Mowat-Wilson syndrome
- ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation
- ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22
- ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- OMIM:300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism
- ORPHA:79323 MPDU1-CDG
- ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- OMIM:252500 Mucolipidosis II alpha/beta
- OMIM:252600 Mucolipidosis III alpha/beta
- OMIM:252605 Mucolipidosis III gamma
- OMIM:252650 Mucolipidosis IV
- ORPHA:576 Mucolipidosis type II
- ORPHA:577 Mucolipidosis type III
- ORPHA:578 Mucolipidosis type IV
- OMIM:252700 Mucopolysaccharidoses, unclassified types
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- ORPHA:582 Mucopolysaccharidosis type 4
- ORPHA:583 Mucopolysaccharidosis type 6
- ORPHA:584 Mucopolysaccharidosis type 7
- OMIM:252930 Mucopolysaccharidosis type IIIC
- OMIM:253010 Mucopolysaccharidosis type IVB (Morquio)
- 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:46486 Mucous membrane pemphigoid
- ORPHA:53271 Muenke syndrome
- OMIM:602849 Muenke 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
- OMIM:253320 Multicore myopathy with mental retardation, short stature, and hypogonadotropichypogonadism
- ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- ORPHA:598 Multiminicore myopathy
- OMIM:231680 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
- ORPHA:653 Multiple endocrine neoplasia type 2
- 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
- OMIM:614299 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
- OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3
- OMIM:616370 Multiple mitochondrial dysfunctions syndrome 4
- OMIM:617613 Multiple mitochondrial dysfunctions syndrome 5
- OMIM:617954 Multiple mitochondrial dysfunctions syndrome 6
- OMIM:253290 Multiple pterygium syndrome, Lethal type
- OMIM:312150 Multiple pterygium syndrome, X-linked
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- OMIM:126200 Multiple sclerosis, susceptibility to
- ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- OMIM:186500 Multiple synostoses syndrome 1
- OMIM:612961 Multiple synostoses syndrome 3
- ORPHA:102 Multiple system atrophy
- OMIM:146500 Multiple system atrophy 1, susceptibility to
- ORPHA:227510 Multiple system atrophy, cerebellar type
- ORPHA:98933 Multiple system atrophy, parkinsonian type
- OMIM:613834 Multisystemic smooth muscle dysfunction syndrome
- OMIM:611376 Mungan syndrome
- ORPHA:588 Muscle-eye-brain disease
- ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- OMIM:158500 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
- ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- OMIM:607855 Muscular dystrophy, congenital, merosin deficient or partially deficient
- OMIM:617404 Muscular dystrophy, congenital, with cataracts and intellectual disability
- OMIM:254000 Muscular dystrophy, congenital, with infantile cataract and hypogonadism
- OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18
- OMIM:619566 Muscular dystrophy, limb-girdle, autosomal recessive 27
- OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
- OMIM:615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
- OMIM:615287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
- OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
- OMIM:253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
- OMIM:253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
- OMIM:613153 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
- OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- OMIM:614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
- OMIM:616538 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
- OMIM:615181 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
- OMIM:615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10
- OMIM:613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6
- OMIM:613155 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1
- OMIM:615351 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14
- OMIM:613156 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2
- OMIM:613151 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
- OMIM:608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6
- OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
- OMIM:613157 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
- ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- OMIM:254150 Musk, inability to smell
- ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis
- OMIM:254200 Myasthenia gravis
- ORPHA:589 Myasthenia gravis
- OMIM:254190 Myasthenia, congenital, refractory to acetylcholinesterase inhibitors
- OMIM:159400 Myasthenia, limb-girdle, autoimmune
- OMIM:254300 Myasthenia, limb-girdle, familial
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:614750 Myasthenic syndrome, congenital, 13, with tubular aggregates
- OMIM:616227 Myasthenic syndrome, congenital, 15
- OMIM:614198 Myasthenic syndrome, congenital, 16
- OMIM:616304 Myasthenic syndrome, congenital, 17
- 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:616224 Myasthenic syndrome, congenital, 22
- OMIM:618197 Myasthenic syndrome, congenital, 23, presynaptic
- OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic
- OMIM:618323 Myasthenic syndrome, congenital, 25, presynaptic
- OMIM:616313 Myasthenic syndrome, congenital, 2A, slow-channel
- OMIM:616321 Myasthenic syndrome, congenital, 3A, slow-channel
- OMIM:616322 Myasthenic syndrome, congenital, 3B, fast-channel
- OMIM:616323 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
- OMIM:605809 Myasthenic syndrome, congenital, 4A, slow-channel
- OMIM:616324 Myasthenic syndrome, congenital, 4B, fast-channel
- OMIM:608931 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
- OMIM:603034 Myasthenic syndrome, congenital, 5
- OMIM:254210 Myasthenic syndrome, congenital, 6, presynaptic
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- OMIM:615120 Myasthenic syndrome, congenital, 8
- OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
- OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1
- ORPHA:268249 Mycophenolate mofetil embryopathy
- OMIM:159500 Myelinated optic nerve fibers
- ORPHA:182050 MYH9-related disease
- OMIM:139210 Myhre syndrome
- ORPHA:2588 Myhre syndrome
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome
- ORPHA:86909 Myoclonic epilepsy of infancy
- OMIM:254780 Myoclonic epilepsy of Lafora
- ORPHA:1942 Myoclonic-astatic epilepsy
- OMIM:617235 Myoclonus, intractable, neonatal
- ORPHA:536516 Myopathic Ehlers-Danlos syndrome
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:255200 Myopathy, centronuclear, 2
- OMIM:615959 Myopathy, centronuclear, 5
- OMIM:160150 Myopathy, centronuclear, autosomal dominant
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:618654 Myopathy, congenital with structured cores and Z-line abnormalities
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:612540 Myopathy, congenital, compton-north
- OMIM:618578 Myopathy, congenital, progressive, with scoliosis
- OMIM:618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- OMIM:255310 Myopathy, congenital, with fiber-type disproportion
- OMIM:300580 Myopathy, congenital, with fiber-type disproportion, X-linked
- OMIM:301075 Myopathy, distal, 7, adult-onset, X-linked
- OMIM:613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
- OMIM:613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- OMIM:619424 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- OMIM:608810 Myopathy, myofibrillar, 2, mfm2
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:605637 Myopathy, proximal, and ophthalmoplegia
- OMIM:160565 Myopathy, tubular aggregate, 1
- OMIM:615883 Myopathy, tubular aggregate, 2
- OMIM:310440 Myopathy, X-linked, with excessive autophagy
- OMIM:310460 Myopia 1, X-linked
- OMIM:609259 Myopia 10
- OMIM:612717 Myopia 15
- OMIM:608367 Myopia 17
- OMIM:613969 Myopia 19, autosomal dominant
- OMIM:160700 Myopia 2, autosomal dominant
- OMIM:614167 Myopia 21, autosomal dominant
- OMIM:615420 Myopia 22, autosomal dominant
- OMIM:615431 Myopia 23, autosomal recessive
- OMIM:615946 Myopia 24, autosomal dominant
- OMIM:617238 Myopia 25, autosomal dominant
- OMIM:301010 Myopia 26, X-linked, female-limited
- OMIM:618827 Myopia 27
- OMIM:619781 Myopia 28, autosomal recessive
- OMIM:608474 Myopia 5
- OMIM:608908 Myopia 6
- OMIM:609256 Myopia 7
- OMIM:609257 Myopia 8
- OMIM:609258 Myopia 9
- OMIM:614292 Myopia, high, with cataract and vitreoretinal degeneration
- OMIM:255500 Myopia, infantile severe
- OMIM:603221 Myopia-3
- ORPHA:99734 Myotonia fluctuans
- ORPHA:99735 Myotonia permanens
Code pathologie
Nom de la pathologie
- ORPHA:2608 N syndrome
- OMIM:310465 N syndrome
- 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
- ORPHA:245 Nager syndrome
- ORPHA:2614 Nail-patella syndrome
- OMIM:161200 Nail-Patella syndrome
- OMIM:302350 Nance-Horan syndrome
- ORPHA:627 Nance-Horan syndrome
- ORPHA:35612 Nanophthalmos
- OMIM:600165 Nanophthalmos 1
- OMIM:609549 Nanophthalmos 2
- OMIM:615972 Nanophthalmos 4
- ORPHA:2073 Narcolepsy type 1
- ORPHA:644 NARP syndrome
- ORPHA:141083 Nasolacrimal duct cyst
- ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome
- OMIM:167730 Nasopalpebral lipoma-coloboma syndrome
- ORPHA:2770 Nasu-Hakola disease
- OMIM:255990 Nathalie syndrome
- ORPHA:2663 Nathalie syndrome
- ORPHA:168572 Native American myopathy
- OMIM:161700 Necrotizing encephalomyelopathy, subacute, of leigh, adult
- ORPHA:199244 Nelson syndrome
- OMIM:616165 Nemaline myopathy 10
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- OMIM:615348 Nemaline myopathy 8
- ORPHA:44 Neonatal adrenoleukodystrophy
- ORPHA:294023 Neonatal inflammatory skin and bowel disease
- ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency
- ORPHA:284979 Neonatal Marfan syndrome
- ORPHA:94058 Neovascular glaucoma
- ORPHA:654 Nephroblastoma
- ORPHA:655 Nephronophthisis
- OMIM:613550 Nephronophthisis 11
- OMIM:614844 Nephronophthisis 14
- OMIM:614845 Nephronophthisis 15
- OMIM:615862 Nephronophthisis 18
- OMIM:613824 Nephronophthisis 9
- OMIM:617575 Nephrotic syndrome, type 14
- OMIM:614199 Nephrotic syndrome, type 5, with or without ocular abnormalities
- OMIM:615244 Nephrotic syndrome, type 8
- OMIM:614008 Nestor-Guillermo progeria syndrome
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- OMIM:616038 Neu-Laxova syndrome 2
- OMIM:256550 Neuraminidase deficiency
- OMIM:256700 Neuroblastoma, susceptibility to
- OMIM:619869 Neurocardiofaciodigital syndrome
- ORPHA:2481 Neurocutaneous melanocytosis
- ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- OMIM:619259 Neurodegeneration with ataxia and late-onset optic atrophy
- OMIM:617145 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- ORPHA:385 Neurodegeneration with brain iron accumulation
- OMIM:234200 Neurodegeneration with brain iron accumulation 1
- OMIM:256600 Neurodegeneration with brain iron accumulation 2A
- OMIM:610217 Neurodegeneration with brain iron accumulation 2B
- OMIM:614298 Neurodegeneration with brain iron accumulation 4
- OMIM:300894 Neurodegeneration with brain iron accumulation 5
- OMIM:617916 Neurodegeneration with brain iron accumulation 7
- OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
- OMIM:618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
- OMIM:618868 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
- OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy
- OMIM:620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
- OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive
- ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities
- OMIM:618890 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
- OMIM:618707 Neurodevelopmental disorder with absent language and variable seizures
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
- OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
- OMIM:615286 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
- OMIM:618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
- OMIM:618590 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
- 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:619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- 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:619264 Neurodevelopmental disorder with dysmorphic facies and variable seizures
- OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
- OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- OMIM:620094 Neurodevelopmental disorder with eye movement abnormalities and ataxia
- 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:619616 Neurodevelopmental disorder with hearing loss and spasticity
- OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
- OMIM:619383 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
- OMIM:620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
- OMIM:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
- OMIM:618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- OMIM:617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- OMIM:617268 Neurodevelopmental disorder with hypotonia, seizures, and absent language
- OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
- OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
- OMIM:619373 Neurodevelopmental disorder with infantile epileptic spasms
- OMIM:619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
- OMIM:617051 Neurodevelopmental disorder with microcephaly and gray sclerae
- OMIM:616281 Neurodevelopmental disorder with microcephaly and spastic paraplegia
- OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
- OMIM:618367 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
- OMIM:617481 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
- OMIM:619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
- 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:620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- OMIM:619076 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
- OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- OMIM:619685 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
- 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:618859 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
- OMIM:614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
- OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
- OMIM:617864 Neurodevelopmental disorder with or without seizures and gait abnormalities
- OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities
- OMIM:619880 Neurodevelopmental disorder with poor growth and skeletal anomalies
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
- OMIM:618088 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
- OMIM:619517 Neurodevelopmental disorder with seizures and brain abnormalities
- OMIM:619323 Neurodevelopmental disorder with seizures and gingival overgrowth
- OMIM:618497 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
- OMIM:618480 Neurodevelopmental disorder with seizures and speech and walking impairment
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain 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:617977 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
- OMIM:618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
- OMIM:618076 Neurodevelopmental disorder with spasticity and poor growth
- OMIM:619286 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
- OMIM:620001 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
- OMIM:619989 Neurodevelopmental disorder with speech delay and variable ocular anomalies
- OMIM:619056 Neurodevelopmental disorder with speech impairment and dysmorphic facies
- OMIM:620114 Neurodevelopmental disorder with speech impairment and with or without seizures
- OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
- OMIM:618547 Neurodevelopmental disorder with visual defects and brain anomalies
- OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities
- 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:33445 Neuroectodermal melanolysosomal disease
- ORPHA:2673 Neurofaciodigitorenal syndrome
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:157846 Neuroferritinopathy
- OMIM:101000 Neurofibromatosis, type II
- 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
- ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency
- OMIM:618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures
- ORPHA:71211 Neuromyelitis optica spectrum disorder
- OMIM:619539 Neuroocular syndrome
- OMIM:618652 Neurooculocardiogenitourinary syndrome
- OMIM:551500 Neuropathy, ataxia, and retinitis pigmentosa
- OMIM:618186 Neuropathy, congenital hypomyelinating, 3
- OMIM:616505 Neuropathy, hereditary motor and sensory, type VIB
- OMIM:618511 Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
- OMIM:608088 Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux
- OMIM:162400 Neuropathy, hereditary sensory and autonomic, type IA
- OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:616488 Neuropathy, hereditary sensory and autonomic, type VIII
- ORPHA:137596 Neurotrophic keratopathy
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- OMIM:619813 Neutropenia, severe congenital, 9, autosomal dominant
- ORPHA:64754 Nevus comedonicus syndrome
- OMIM:607476 Newfoundland rod-cone dystrophy
- ORPHA:646 Niemann-Pick disease type C
- OMIM:257200 Niemann-Pick disease, type A
- OMIM:607616 Niemann-pick disease, type B
- OMIM:257220 Niemann-pick disease, type C1
- OMIM:607625 Niemann-pick disease, type C2
- OMIM:613216 Night blindness, congenital stationary (complete), 1C, autosomal recessive
- OMIM:610445 Night blindness, congenital stationary, autosomal dominant 1
- OMIM:163500 Night blindness, congenital stationary, autosomal dominant 2
- OMIM:610444 Night blindness, congenital stationary, autosomal dominant 3
- OMIM:310500 Night blindness, congenital stationary, type 1A
- OMIM:257270 Night blindness, congenital stationary, type 1B
- OMIM:613830 Night blindness, congenital stationary, type 1D
- OMIM:614565 Night blindness, congenital stationary, type 1E
- OMIM:615058 Night blindness, congenital stationary, type 1F
- OMIM:616389 Night blindness, congenital stationary, type 1G
- OMIM:617024 Night blindness, congenital stationary, type 1H
- OMIM:618555 Night blindness, congenital stationary, type 1I
- OMIM:300071 Night blindness, congenital stationary, type 2A
- ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome
- OMIM:613078 Nijmegen breakage syndrome-like disorder
- OMIM:600092 Nivelon-Nivelon-Mabille syndrome
- OMIM:618872 Nizon-Isidor syndrome
- ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:31204 Nocardiosis
- ORPHA:33577 Nodular non-suppurative panniculitis
- ORPHA:73267 Non-24-hour sleep-wake syndrome
- ORPHA:1581 Non-distal monosomy 10q
- ORPHA:1695 Non-distal trisomy 10q
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:91349 Non-functioning pituitary adenoma
- ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:442835 Non-specific early-onset epileptic encephalopathy
- ORPHA:35099 Non-syndromic bicoronal craniosynostosis
- ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis
- ORPHA:3366 Non-syndromic metopic craniosynostosis
- OMIM:258660 Nonarteritic anterior ischemic optic neuropathy, susceptibility to
- 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:609942 Noonan syndrome 3
- OMIM:610733 Noonan syndrome 4
- OMIM:611553 Noonan syndrome 5
- OMIM:613224 Noonan syndrome 6
- OMIM:613706 Noonan syndrome 7
- OMIM:615355 Noonan syndrome 8
- OMIM:616559 Noonan syndrome 9
- ORPHA:500 Noonan syndrome with multiple lentigines
- ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair
- OMIM:617506 Noonan syndrome-like disorder with loose anagen hair 2
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
- OMIM:310600 Norrie disease
- ORPHA:649 Norrie disease
- ORPHA:280234 Null syndrome
- OMIM:310700 Nystagmus 1, congenital, X-linked
- OMIM:164100 Nystagmus 2, congenital, autosomal dominant
- OMIM:608345 Nystagmus 3, congenital, autosomal dominant
- OMIM:193003 Nystagmus 4, congenital, autosomal dominant
- OMIM:300589 Nystagmus 5, congenital, X-linked
- OMIM:300814 Nystagmus 6, congenital, X-linked
- OMIM:614826 Nystagmus 7, congenital, autosomal dominant
- OMIM:257400 Nystagmus, congenital motor, autosomal recessive
- OMIM:164150 Nystagmus, hereditary vertical
- OMIM:310800 Nystagmus, myoclonic
Code pathologie
Nom de la pathologie
- OMIM:618512 O'donnell-Luria-Rodan syndrome
- OMIM:613587 Occult macular dystrophy
- ORPHA:1000 Ocular albinism with late-onset sensorineural deafness
- ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
- OMIM:164185 Ocular cicatricial pemphigoid
- ORPHA:411641 Ocular cystinosis
- OMIM:257550 Ocular motor apraxia
- ORPHA:2714 Oculo-palato-cerebral syndrome
- OMIM:612109 Oculoauricular syndrome
- ORPHA:398156 Oculoauriculofrontonasal syndrome
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- OMIM:257790 Oculocerebral hypopigmentation syndrome of preus
- ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type
- OMIM:257800 Oculocerebral syndrome with hypopigmentation
- OMIM:164180 Oculocerebrocutaneous syndrome
- ORPHA:1647 Oculocerebrocutaneous syndrome
- ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- ORPHA:55 Oculocutaneous albinism
- ORPHA:352731 Oculocutaneous albinism type 1
- ORPHA:79431 Oculocutaneous albinism type 1A
- ORPHA:79434 Oculocutaneous albinism type 1B
- ORPHA:79432 Oculocutaneous albinism type 2
- ORPHA:79433 Oculocutaneous albinism type 3
- ORPHA:79435 Oculocutaneous albinism type 4
- ORPHA:370091 Oculocutaneous albinism type 5
- ORPHA:370097 Oculocutaneous albinism type 6
- OMIM:619165 Oculocutaneous albinism, type VIII
- OMIM:164200 Oculodentodigital dysplasia
- ORPHA:2710 Oculodentodigital dysplasia
- OMIM:257850 Oculodentodigital dysplasia, autosomal recessive
- OMIM:600268 Oculoectodermal syndrome
- ORPHA:2712 Oculofaciocardiodental syndrome
- ORPHA:1876 Oculogastrointestinal muscular dystrophy
- OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome
- ORPHA:1794 Oculomaxillofacial dysostosis
- OMIM:619215 Oculomotor-abducens synkinesis
- OMIM:257910 Oculopalatocerebral syndrome
- OMIM:618637 Oculopharyngeal myopathy with leukoencephalopathy 1
- OMIM:164310 Oculopharyngodistal myopathy 1
- OMIM:619473 Oculopharyngodistal myopathy 3
- OMIM:619790 Oculopharyngodistal myopathy 4
- OMIM:257970 Oculorenocerebellar syndrome
- OMIM:618440 Oculoskeletodental syndrome
- ORPHA:557003 Oculoskeletodental syndrome
- ORPHA:2717 Oculotrichoanal syndrome
- OMIM:257960 OCULOTRICHODYSPLASIA
- ORPHA:166272 Odontochondrodysplasia
- OMIM:257980 Odontoonychodermal dysplasia
- ORPHA:276432 Ogden syndrome
- OMIM:300855 Ogden syndrome
- ORPHA:75382 Oguchi disease
- OMIM:258100 Oguchi disease 1
- OMIM:613411 Oguchi disease-2
- OMIM:249620 Ohdo syndrome
- OMIM:300895 Ohdo syndrome, X-linked
- ORPHA:2729 Okamoto syndrome
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- ORPHA:85410 Oligoarticular juvenile idiopathic arthritis
- ORPHA:75378 Oligocone trichromacy
- ORPHA:2260 Oligomeganephronia
- OMIM:275400 Oliver-Mcfarlane syndrome
- ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- OMIM:258360 Onychotrichodysplasia and neutropenia
- OMIM:164900 Ophthalmomandibulomelic dysplasia
- ORPHA:2741 Ophthalmomandibulomelic dysplasia
- OMIM:258400 Ophthalmoplegia totalis with ptosis and miosis
- OMIM:311000 Ophthalmoplegia, external, and myopia
- OMIM:618155 Ophthalmoplegia, external, with rib and vertebral anomalies
- OMIM:165000 Ophthalmoplegia, familial static
- OMIM:165098 Ophthalmoplegia, familial total, with iris transillumination
- OMIM:165150 Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency
- ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
- OMIM:258470 Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
- ORPHA:2745 Opitz GBBB syndrome
- OMIM:300000 Opitz GBBB syndrome
- OMIM:305450 Opitz-Kaveggia syndrome
- ORPHA:2746 Opsismodysplasia
- OMIM:258480 Opsismodysplasia
- ORPHA:1183 Opsoclonus-myoclonus syndrome
- OMIM:165500 Optic atrophy 1
- OMIM:616732 Optic atrophy 10 with or without ataxia, mental retardation, and seizures
- OMIM:617302 Optic atrophy 11
- OMIM:618977 Optic atrophy 12
- OMIM:311050 Optic atrophy 2
- OMIM:165300 Optic atrophy 3, autosomal dominant
- OMIM:610708 Optic atrophy 5
- OMIM:258500 Optic atrophy 6
- OMIM:612989 Optic atrophy 7 with or without auditory neuropathy
- OMIM:616648 Optic atrophy 8
- OMIM:616289 Optic atrophy 9
- OMIM:165200 Optic atrophy with demyelinating disease of CNS
- OMIM:165510 Optic atrophy with negative electroretinograms
- OMIM:125250 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- OMIM:165199 Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant
- OMIM:258650 Optic atrophy, hearing loss, and peripheral neuropathy, autosomalrecessive
- OMIM:311100 Optic atrophy--spastic paraplegia syndrome
- ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:401777 Optic atrophy-intellectual disability syndrome
- OMIM:212550 Optic disc anomalies with retinal and/or macular dystrophy
- OMIM:165550 Optic nerve hypoplasia
- ORPHA:2086 Optic pathway glioma
- OMIM:258700 Opticocochleodentate degeneration
- 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: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:615948 Orofaciodigital syndrome XIV
- OMIM:620107 Orofaciodigital syndrome XIX
- OMIM:617127 Orofaciodigital syndrome XV
- OMIM:617563 Orofaciodigital syndrome XVI
- OMIM:223360 Orthostatic hypotension 1, due to DBH deficiency
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- ORPHA:666 Osteogenesis imperfecta
- OMIM:259410 Osteogenesis imperfecta congenita, microcephaly, and cataracts
- 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: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:615220 Osteogenesis imperfecta, type XV
- OMIM:616229 Osteogenesis imperfecta, type XVI
- OMIM:617952 Osteogenesis imperfecta, type XVIII
- OMIM:618644 Osteogenesis imperfecta, type XX
- ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- 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:2324 Osteopenia-intellectual disability-sparse hair syndrome
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:166600 Osteopetrosis, autosomal dominant 2
- OMIM:259700 Osteopetrosis, autosomal recessive 1
- OMIM:259710 Osteopetrosis, autosomal recessive 2
- OMIM:259730 Osteopetrosis, autosomal recessive 3
- OMIM:611490 Osteopetrosis, autosomal recessive 4
- OMIM:259720 Osteopetrosis, autosomal recessive 5
- OMIM:612301 Osteopetrosis, autosomal recessive 7
- OMIM:615085 Osteopetrosis, autosomal recessive 8
- OMIM:601220 Osteoporosis and oculocutaneous hypopigmentation syndrome
- OMIM:259750 Osteoporosis, juvenile
- ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
- ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome
- ORPHA:2788 Osteoporosis-pseudoglioma syndrome
- OMIM:259770 Osteoporosis-pseudoglioma syndrome
- OMIM:259500 Osteosarcoma
- ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome
- OMIM:166750 Otodental dysplasia
- ORPHA:2791 Otodental syndrome
- OMIM:615560 Otofaciocervical syndrome 2
- 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:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2796 Pachydermoperiostosis
- OMIM:610279 Pachygyria, frontotemporal
- OMIM:618737 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
- OMIM:301025 Paganini-Miozzo syndrome
- OMIM:239000 Paget disease of bone 5, juvenile-onset
- ORPHA:991 PAGOD syndrome
- ORPHA:1993 Pai syndrome
- 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:212360 Palmoplantar keratoderma and congenital alopecia 2
- OMIM:300918 Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
- OMIM:614594 Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques
- ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome
- OMIM:609069 Pancreatic and cerebellar agenesis
- ORPHA:309031 Pancreatic triacylglycerol lipase deficiency
- ORPHA:95513 Panhypophysitis
- ORPHA:157850 Pantothenate kinase-associated neurodegeneration
- ORPHA:251915 Papillary tumor of the pineal region
- OMIM:260500 Papilloma of choroid plexus
- ORPHA:2807 Papilloma of choroid plexus
- OMIM:120330 Papillorenal syndrome
- ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome
- OMIM:168500 Parietal foramina
- OMIM:609597 Parietal foramina 2
- OMIM:612953 Parkinson disease 14, autosomal recessive
- OMIM:260300 Parkinson disease 15, autosomal recessive early-onset
- OMIM:615528 Parkinson disease 19a, juvenile-onset
- OMIM:615530 Parkinson disease 20, early-onset
- ORPHA:171695 Parkinsonian-pyramidal syndrome
- OMIM:613135 Parkinsonism-Dystonia, infantile, 1
- OMIM:618049 Parkinsonism-Dystonia, infantile, 2
- ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
- OMIM:167400 Paroxysmal extreme pain disorder
- ORPHA:157835 Paroxysmal hemicrania
- ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia
- ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9
- ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome
- ORPHA:251004 Paternal uniparental disomy of chromosome 1
- ORPHA:96190 Paternal uniparental disomy of chromosome 5
- ORPHA:96191 Paternal uniparental disomy of chromosome 6
- ORPHA:93126 Pauci-immune glomerulonephritis
- ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome
- ORPHA:439822 PDE4D haploinsufficiency syndrome
- OMIM:557000 Pearson marrow-pancreas syndrome
- ORPHA:699 Pearson syndrome
- ORPHA:525731 Pediatric-onset Graves disease
- OMIM:260565 Peho syndrome
- ORPHA:2836 PEHO syndrome
- OMIM:617507 Peho-Like syndrome
- OMIM:169400 Pelger-Huet anomaly
- ORPHA:702 Pelizaeus-Merzbacher disease
- OMIM:312080 Pelizaeus-Merzbacher disease
- ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers
- ORPHA:280219 Pelizaeus-Merzbacher disease, classic form
- ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form
- ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form
- OMIM:260650 Pellagra-Like syndrome
- ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- ORPHA:2839 Pelvis-shoulder dysplasia
- OMIM:169550 Pelvis-Shoulder dysplasia
- ORPHA:93333 Pelviscapular dysplasia
- ORPHA:11 Pentasomy X
- OMIM:142680 Periodic fever, familial, autosomal dominant
- OMIM:609021 Peripheral cone dystrophy
- OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
- ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- OMIM:618124 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- OMIM:615544 Periventricular nodular heterotopia 6
- OMIM:617201 Periventricular nodular heterotopia 7
- ORPHA:2849 Perlman syndrome
- ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:264470 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:616154 Peroxisomal fatty acyl-CoA reductase 1 disorder
- OMIM:614882 Peroxisome biogenesis disorder 10A (Zellweger)
- OMIM:617370 Peroxisome biogenesis disorder 10B
- OMIM:614885 Peroxisome biogenesis disorder 11B
- OMIM:614887 Peroxisome biogenesis disorder 13A (Zellweger)
- OMIM:614920 Peroxisome biogenesis disorder 14B
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:601539 Peroxisome biogenesis disorder 1B
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:202370 Peroxisome biogenesis disorder 2B
- OMIM:266510 Peroxisome biogenesis disorder 3B
- OMIM:614862 Peroxisome biogenesis disorder 4A (Zellweger)
- 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:614873 Peroxisome biogenesis disorder 7B
- OMIM:614876 Peroxisome biogenesis disorder 8A (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
- OMIM:168605 Perry syndrome
- ORPHA:91495 Persistent hyperplastic primary vitreous
- OMIM:221900 Persistent hyperplastic primary vitreous, autosomal recessive
- ORPHA:97341 Persistent placoid maculopathy
- ORPHA:708 Peters anomaly
- ORPHA:709 Peters plus syndrome
- OMIM:261540 Peters-Plus syndrome
- OMIM:304340 Pettigrew syndrome
- 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
- OMIM:606519 PHACE association
- ORPHA:42775 PHACE syndrome
- ORPHA:209959 Phacoanaphylactic uveitis
- ORPHA:2874 Phakomatosis pigmentokeratotica
- ORPHA:2875 Phakomatosis pigmentovascularis
- OMIM:606232 Phelan-Mcdermid syndrome
- ORPHA:1919 Phenobarbital embryopathy
- OMIM:261600 Phenylketonuria
- OMIM:171300 PHEOCHROMOCYTOMA
- OMIM:171420 Pheochromocytoma-Islet cell tumor syndrome
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- OMIM:261680 Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- OMIM:601815 Phosphoglycerate dehydrogenase deficiency
- OMIM:300653 Phosphoglycerate kinase 1 deficiency
- OMIM:619859 Phosphoribosylaminoimidazole carboxylase deficiency
- ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:300661 Phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form
- OMIM:172500 Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebraldysfunction
- OMIM:172800 Piebald trait
- ORPHA:2885 Piebald trait-neurologic defects syndrome
- ORPHA:2884 Piebaldism
- ORPHA:487825 Pierpont syndrome
- OMIM:602342 Pierpont syndrome
- OMIM:609049 Pierson syndrome
- OMIM:301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked
- OMIM:172870 Pigmented paravenous chorioretinal atrophy
- ORPHA:2890 Pili torti-onychodysplasia syndrome
- OMIM:262020 Pilodental dysplasia with refractive errors
- ORPHA:251909 Pineoblastoma
- ORPHA:251912 Pineocytoma
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:610954 Pitt-Hopkins syndrome
- OMIM:614325 Pitt-Hopkins-Like syndrome 2
- ORPHA:251623 Pituicytoma
- ORPHA:95613 Pituitary apoplexy
- ORPHA:300385 Pituitary carcinoma
- ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome
- ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts
- ORPHA:91351 Pituitary dermoid and epidermoid cysts
- OMIM:613038 Pituitary hormone deficiency, combined, 1
- ORPHA:95496 Pituitary stalk interruption syndrome
- ORPHA:521426 PLAA-associated neurodevelopmental disorder
- ORPHA:707 Plague
- OMIM:217090 Plasminogen deficiency, type I
- ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
- ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17
- ORPHA:79318 PMM2-CDG
- ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome
- ORPHA:2905 POEMS syndrome
- OMIM:604173 Poikiloderma with neutropenia
- OMIM:615704 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
- ORPHA:2911 Poland syndrome
- ORPHA:767 Polyarteritis nodosa
- OMIM:263100 Polycystic kidney, cataract, and congenital blindness
- OMIM:174310 Polydactyly, postaxial, with progressive myopia
- ORPHA:2917 Polydactyly-myopia syndrome
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy
- ORPHA:300573 Polymicrogyria due to TUBB2B mutation
- ORPHA:250972 Polymicrogyria with optic nerve hypoplasia
- OMIM:618343 Polymicrogyria with or without vascular-type EDS
- OMIM:606854 Polymicrogyria, bilateral frontoparietal
- OMIM:263550 Polymyoclonus, infantile
- OMIM:612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- ORPHA:141091 Polyrrhinia
- OMIM:263630 Polysyndactyly with cardiac malformation
- ORPHA:228410 Polyvalvular heart disease syndrome
- OMIM:614688 Pontine tegmental cap dysplasia
- ORPHA:2254 Pontocerebellar hypoplasia type 1
- ORPHA:411493 Pontocerebellar hypoplasia type 10
- ORPHA:2524 Pontocerebellar hypoplasia type 2
- ORPHA:284339 Pontocerebellar hypoplasia type 7
- OMIM:618810 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
- OMIM:615803 Pontocerebellar hypoplasia, type 10
- 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:616081 Pontocerebellar hypoplasia, type 1C
- OMIM:618065 Pontocerebellar hypoplasia, type 1D
- OMIM:619303 Pontocerebellar hypoplasia, type 1E
- OMIM:619304 Pontocerebellar hypoplasia, type 1F
- OMIM:277470 Pontocerebellar hypoplasia, type 2A
- OMIM:612389 Pontocerebellar hypoplasia, type 2B
- OMIM:612390 Pontocerebellar hypoplasia, type 2C
- OMIM:613811 Pontocerebellar hypoplasia, type 2D
- OMIM:615851 Pontocerebellar hypoplasia, type 2E
- OMIM:617026 Pontocerebellar hypoplasia, type 2F
- OMIM:608027 Pontocerebellar hypoplasia, type 3
- OMIM:611523 Pontocerebellar hypoplasia, type 6
- OMIM:614969 Pontocerebellar hypoplasia, type 7
- OMIM:614961 Pontocerebellar hypoplasia, type 8
- OMIM:615809 Pontocerebellar hypoplasia, type 9
- OMIM:263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1
- OMIM:619339 Popliteal pterygium syndrome, Bartsocas-Papas type 2
- OMIM:618428 Popov-Chang syndrome
- OMIM:615960 Poretti-Boltshauser syndrome
- ORPHA:101330 Porphyria cutanea tarda
- OMIM:263700 Porphyria, congenital erythropoietic
- ORPHA:246 Postaxial acrofacial dysostosis
- ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome
- ORPHA:97349 Postencephalitic parkinsonism
- ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome
- ORPHA:54247 Posterior cortical atrophy
- ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- ORPHA:98973 Posterior polymorphous corneal dystrophy
- ORPHA:93110 Posterior urethral valve
- ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
- ORPHA:279947 Postorgasmic illness syndrome
- ORPHA:98913 Postsynaptic congenital myasthenic syndromes
- OMIM:610883 Potocki-Lupski syndrome
- ORPHA:52022 Potocki-Shaffer syndrome
- 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
- ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome
- ORPHA:275555 Preeclampsia
- OMIM:601811 Premature aging syndrome, Okamoto type
- OMIM:601812 Premature aging syndrome, Penttinen type
- OMIM:616947 Premature ovarian failure 12
- OMIM:264060 Prepapillary vascular loops
- ORPHA:98914 Presynaptic congenital myasthenic syndromes
- OMIM:309610 Prieto syndrome
- OMIM:615474 Primary aldosteronism, seizures, and neurologic abnormalities
- ORPHA:140989 Primary angiitis of the central nervous system
- ORPHA:2285 Primary basilar invagination
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:416 Primary hyperoxaluria
- ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- OMIM:606353 Primary lateral sclerosis, juvenile
- ORPHA:54370 Primary membranoproliferative glomerulonephritis
- ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- ORPHA:357225 Primary non-essential cutis verticis gyrata
- ORPHA:75567 Primary progressive freezing gait
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:289390 Primary Sjögren syndrome
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- OMIM:259050 Primrose syndrome
- ORPHA:141099 Proboscis lateralis
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:2963 Progeroid syndrome, Petty type
- ORPHA:75373 Progressive bifocal chorioretinal atrophy
- ORPHA:1871 Progressive cone dystrophy
- ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency
- ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type
- OMIM:157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- OMIM:609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
- 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:613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- OMIM:616479 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
- OMIM:617069 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
- OMIM:617070 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
- OMIM:618098 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- OMIM:615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- ORPHA:1214 Progressive hemifacial atrophy
- ORPHA:217260 Progressive multifocal leukoencephalopathy
- ORPHA:263516 Progressive myoclonic epilepsy type 3
- ORPHA:352596 Progressive myoclonic epilepsy with dystonia
- ORPHA:2062 Progressive non-infectious anterior vertebral fusion
- ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- ORPHA:683 Progressive supranuclear palsy
- ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome
- ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome
- ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
- ORPHA:2965 Prolactinoma
- OMIM:170100 Prolidase deficiency
- ORPHA:742 Prolidase deficiency
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- OMIM:617591 Proteasome-Associated autoinflammatory syndrome 3
- ORPHA:744 Proteus syndrome
- OMIM:176920 Proteus syndrome, somatic
- ORPHA:2969 Proteus-like syndrome
- ORPHA:261197 Proximal 16p11.2 microdeletion syndrome
- ORPHA:370079 Proximal 16p11.2 microduplication syndrome
- ORPHA:401768 Proximal myopathy with extrapyramidal signs
- ORPHA:47159 Proximal renal tubular acidosis
- ORPHA:3250 Proximal symphalangism
- ORPHA:1762 Proximal Xq28 duplication syndrome
- ORPHA:544469 PRUNE1-related neurological syndrome
- ORPHA:221120 Pseudoaminopterin syndrome
- OMIM:264180 Pseudodiastrophic dysplasia
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy
- OMIM:103580 Pseudohypoparathyroidism, type IA
- OMIM:612462 Pseudohypoparathyroidism, type IC
- OMIM:264475 Pseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies
- ORPHA:2985 Pseudoprogeria syndrome
- OMIM:612463 PSEUDOPSEUDOHYPOPARATHYROIDISM
- OMIM:264480 Pseudotrisomy 13 syndrome
- OMIM:610842 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
- ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
- ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis
- OMIM:614501 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
- ORPHA:306498 PTEN hamartoma tumor syndrome
- ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome
- OMIM:178300 Ptosis, hereditary congenital 1
- OMIM:300245 Ptosis, hereditary congenital 2
- OMIM:178330 Ptosis, strabismus, and ectopic pupils
- ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- ORPHA:2997 Ptosis-vocal cord paralysis syndrome
- OMIM:178900 Pupillary membrane, persistence of
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- ORPHA:254854 Pure mitochondrial myopathy
- OMIM:179000 Purpura simplex
- ORPHA:763 Pycnodysostosis
- ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy
- ORPHA:79096 Pyridoxal phosphate-responsive seizures
- OMIM:610090 Pyridoxamine 5-prime-phosphate oxidase deficiency
- ORPHA:3006 Pyridoxine-dependent epilepsy
- ORPHA:3008 Pyruvate carboxylase deficiency
- ORPHA:765 Pyruvate dehydrogenase deficiency
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- OMIM:312170 Pyruvate dehydrogenase e1-alpha deficiency
- ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency
- ORPHA:79244 Pyruvate dehydrogenase E2 deficiency
- OMIM:245348 Pyruvate dehydrogenase E2 deficiency
- ORPHA:2394 Pyruvate dehydrogenase E3 deficiency
- OMIM:245349 Pyruvate dehydrogenase e3-binding protein deficiency
- OMIM:608782 Pyruvate dehydrogenase phosphatase deficiency
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:769 Rabson-Mendenhall syndrome
- OMIM:179270 Radial ray hypoplasia with choanal atresia
- OMIM:619312 Radio-Tartaglia syndrome
- ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome
- OMIM:614202 Rafiq syndrome
- OMIM:617537 Rahman syndrome
- OMIM:259775 Raine syndrome
- OMIM:613658 Rajab interstitial lung disease with brain calcifications
- OMIM:619013 Rajab interstitial lung disease with brain calcifications 2
- OMIM:266270 Ramon syndrome
- ORPHA:3019 Ramon syndrome
- ORPHA:1051 Ramos-Arroyo syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- OMIM:129400 Rapp-Hodgkin syndrome
- ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:1929 Rasmussen subacute encephalitis
- OMIM:619695 Rauch-Steindl syndrome
- ORPHA:99852 Ravine syndrome
- OMIM:300114 Raynaud-Claes syndrome
- ORPHA:29207 Reactive arthritis
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:94125 Recessive mitochondrial ataxia syndrome
- ORPHA:461 Recessive X-linked ichthyosis
- ORPHA:96167 Recombinant 8 syndrome
- OMIM:179613 Recombinant chromosome 8 syndrome
- ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- OMIM:266350 Red skin pigment anomaly of new guinea
- OMIM:266400 Reese retinal dysplasia
- ORPHA:86839 Refractory anemia with excess blasts
- OMIM:266500 Refsum disease
- ORPHA:773 Refsum disease
- ORPHA:728 Relapsing polychondritis
- ORPHA:1848 Renal agenesis, bilateral
- OMIM:266810 Renal and mullerian duct hypoplasia
- ORPHA:1475 Renal coloboma syndrome
- OMIM:191830 Renal hypodysplasia/aplasia 1
- ORPHA:97362 Renal hypoplasia, bilateral
- OMIM:604278 Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation
- ORPHA:3033 Renal tubular dysgenesis
- OMIM:560000 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia
- OMIM:309500 Renpenning syndrome
- ORPHA:3242 Renpenning syndrome
- ORPHA:494344 RERE-related neurodevelopmental syndrome
- ORPHA:1662 Restrictive dermopathy
- OMIM:275210 Restrictive dermopathy 1
- OMIM:619793 Restrictive dermopathy 2
- OMIM:179840 Reticular dystrophy of retinal pigment epithelium
- OMIM:614224 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
- OMIM:180000 Retinal arteries, tortuosity of
- ORPHA:71213 Retinal capillary malformation
- OMIM:180020 Retinal cone dystrophy 1
- OMIM:610024 Retinal cone dystrophy 3A
- OMIM:610356 Retinal cone dystrophy 3B
- OMIM:610478 Retinal cone dystrophy 4
- OMIM:267740 Retinal degeneration and epilepsy
- OMIM:267760 Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma
- ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome
- OMIM:312550 Retinal dysplasia, primary
- OMIM:616722 Retinal dystrophy and iris coloboma with or without congenital cataract
- OMIM:619446 Retinal dystrophy and microvillus inclusion disease
- OMIM:616188 Retinal dystrophy and obesity
- OMIM:616079 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
- OMIM:618863 Retinal dystrophy with leukodystrophy
- OMIM:617175 Retinal dystrophy with or without extraocular anomalies
- OMIM:617547 Retinal dystrophy with or without macular staphyloma
- OMIM:615147 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
- OMIM:616108 Retinal dystrophy, juvenile cataracts, and short stature syndrome
- OMIM:267800 Retinal dystrophy, reticular pigmentary, of posterior pole
- OMIM:267900 Retinal telangiectasia and hypogammaglobulinemia
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- OMIM:180080 Retinal venous beading
- OMIM:268000 Retinitis pigmentosa
- ORPHA:791 Retinitis pigmentosa
- OMIM:180100 Retinitis pigmentosa 1
- OMIM:180105 Retinitis pigmentosa 10
- OMIM:600138 Retinitis pigmentosa 11
- OMIM:600105 Retinitis pigmentosa 12
- OMIM:600059 Retinitis pigmentosa 13
- OMIM:600132 Retinitis pigmentosa 14
- OMIM:600852 Retinitis pigmentosa 17
- OMIM:601414 Retinitis pigmentosa 18
- OMIM:601718 Retinitis pigmentosa 19
- OMIM:312600 Retinitis pigmentosa 2, X-linked
- OMIM:613794 Retinitis pigmentosa 20
- OMIM:300424 Retinitis pigmentosa 23
- OMIM:300155 Retinitis pigmentosa 24
- OMIM:602772 Retinitis pigmentosa 25
- OMIM:608380 Retinitis pigmentosa 26
- OMIM:613750 Retinitis pigmentosa 27
- OMIM:606068 Retinitis pigmentosa 28
- OMIM:612165 Retinitis pigmentosa 29
- OMIM:300029 Retinitis pigmentosa 3
- OMIM:607921 Retinitis pigmentosa 30
- OMIM:609923 Retinitis pigmentosa 31
- OMIM:609913 Retinitis pigmentosa 32
- OMIM:610359 Retinitis pigmentosa 33
- OMIM:610282 Retinitis pigmentosa 35
- OMIM:610599 Retinitis pigmentosa 36
- OMIM:611131 Retinitis pigmentosa 37
- OMIM:613862 Retinitis pigmentosa 38
- OMIM:613809 Retinitis pigmentosa 39
- OMIM:613731 Retinitis pigmentosa 4
- OMIM:613801 Retinitis pigmentosa 40
- OMIM:612095 Retinitis pigmentosa 41
- OMIM:612943 Retinitis pigmentosa 42
- OMIM:613810 Retinitis pigmentosa 43
- OMIM:613769 Retinitis pigmentosa 44
- OMIM:613767 Retinitis pigmentosa 45
- OMIM:612572 Retinitis pigmentosa 46
- OMIM:613758 Retinitis pigmentosa 47
- OMIM:613827 Retinitis pigmentosa 48
- OMIM:613756 Retinitis pigmentosa 49
- OMIM:613464 Retinitis pigmentosa 51
- OMIM:613428 Retinitis pigmentosa 54
- OMIM:613575 Retinitis pigmentosa 55
- OMIM:613581 Retinitis pigmentosa 56
- OMIM:613582 Retinitis pigmentosa 57
- OMIM:613617 Retinitis pigmentosa 58
- OMIM:613861 Retinitis pigmentosa 59
- OMIM:312612 Retinitis pigmentosa 6
- OMIM:613983 Retinitis pigmentosa 60
- OMIM:614180 Retinitis pigmentosa 61
- OMIM:614181 Retinitis pigmentosa 62
- OMIM:614494 Retinitis pigmentosa 63
- OMIM:615233 Retinitis pigmentosa 66
- OMIM:615565 Retinitis pigmentosa 67
- OMIM:615725 Retinitis pigmentosa 68
- OMIM:615780 Retinitis pigmentosa 69
- OMIM:608133 Retinitis pigmentosa 7
- OMIM:615922 Retinitis pigmentosa 70
- OMIM:616394 Retinitis pigmentosa 71
- OMIM:616469 Retinitis pigmentosa 72
- OMIM:616544 Retinitis pigmentosa 73
- OMIM:616562 Retinitis pigmentosa 74
- OMIM:617023 Retinitis pigmentosa 75
- OMIM:617123 Retinitis pigmentosa 76
- OMIM:617304 Retinitis pigmentosa 77
- OMIM:617433 Retinitis pigmentosa 78
- OMIM:617460 Retinitis pigmentosa 79
- OMIM:617781 Retinitis pigmentosa 80
- OMIM:618173 Retinitis pigmentosa 83
- OMIM:618220 Retinitis pigmentosa 84
- OMIM:618345 Retinitis pigmentosa 85
- OMIM:618613 Retinitis pigmentosa 86
- OMIM:618697 Retinitis pigmentosa 87 with choroidal involvement
- OMIM:618826 Retinitis pigmentosa 88
- OMIM:618955 Retinitis pigmentosa 89
- OMIM:180104 Retinitis pigmentosa 9
- OMIM:619007 Retinitis pigmentosa 90
- OMIM:619614 Retinitis pigmentosa 92
- OMIM:619845 Retinitis pigmentosa 93
- OMIM:620102 Retinitis pigmentosa 95
- OMIM:616959 Retinitis pigmentosa and erythrocytic microcytosis
- OMIM:268010 Retinitis pigmentosa inversa with deafness
- OMIM:615434 Retinitis pigmentosa with or without situs inversus
- OMIM:250410 Retinitis pigmentosa with or without skeletal anomalies
- OMIM:268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
- OMIM:268025 Retinitis pigmentosa, late-adult onset
- OMIM:300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness
- OMIM:400004 RETINITIS PIGMENTOSA, Y-LINKED
- OMIM:613194 Retinitis pigmentosa-50
- ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- ORPHA:52427 Retinitis punctata albescens
- OMIM:180200 RETINOBLASTOMA
- ORPHA:790 Retinoblastoma
- OMIM:268040 Retinohepatoendocrinologic syndrome
- ORPHA:90050 Retinopathy of prematurity
- OMIM:268060 Retinopathy, pericentral pigmentary, autosomal recessive
- OMIM:180210 Retinopathy, pericentral pigmentary, dominant
- OMIM:312700 Retinoschisis 1, X-linked, juvenile
- OMIM:268080 Retinoschisis of fovea
- OMIM:180270 Retinoschisis, autosomal dominant
- ORPHA:284388 Reversible cerebral vasoconstriction syndrome
- OMIM:268130 Revesz syndrome
- ORPHA:779 Reynolds syndrome
- ORPHA:244310 RFT1-CDG
- ORPHA:69077 Rhabdoid tumor
- ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- ORPHA:177 Rhizomelic chondrodysplasia punctata
- OMIM:215100 Rhizomelic chondrodysplasia punctata, type 1
- OMIM:222765 Rhizomelic chondrodysplasia punctata, type 2
- OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5
- OMIM:610319 Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- OMIM:618821 Rhizomelic limb shortening with dysmorphic features
- ORPHA:59315 Rhombencephalosynapsis
- ORPHA:140976 RHYNS syndrome
- OMIM:602152 Rhyns syndrome
- ORPHA:97229 Riboflavin transporter deficiency
- OMIM:608611 Ribose 5-phosphate isomerase deficiency
- ORPHA:1399 Richards-Rundle syndrome
- ORPHA:3101 Richieri Costa-da Silva syndrome
- OMIM:268850 Richieri-Costa/guion-Almeida syndrome
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- 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
- OMIM:616606 Ring chromosome 14 syndrome
- ORPHA:1448 Ring chromosome 6 syndrome
- ORPHA:1449 Ring chromosome 7 syndrome
- OMIM:180550 Ring dermoid of cornea
- 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: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:268315 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- OMIM:268320 Rodrigues blindness
- OMIM:616651 Roifman syndrome
- ORPHA:353298 Roifman syndrome
- OMIM:613328 Roifman-Chitayat syndrome
- ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp 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:618625 Rothmund-thomson syndrome, type 1
- 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:616200 Ruijs-Aalfs syndrome
- OMIM:180900 Rutherfurd syndrome
- ORPHA:3121 Ruvalcaba syndrome
- OMIM:180870 Ruvalcaba syndrome
Code pathologie
Nom de la pathologie
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- OMIM:101400 Saethre-Chotzen syndrome
- ORPHA:794 Saethre-Chotzen syndrome
- OMIM:611705 Salih myopathy
- OMIM:604369 Salla disease
- OMIM:609056 Salt and pepper developmental regression syndrome
- OMIM:618804 Sandestig-Stefanova syndrome
- OMIM:268800 Sandhoff disease
- ORPHA:796 Sandhoff disease
- ORPHA:309155 Sandhoff disease, infantile form
- ORPHA:71272 Sandifer syndrome
- ORPHA:2323 Sanjad-Sakati syndrome
- ORPHA:797 Sarcoidosis
- 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
- OMIM:618150 Saul-Wilson syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:269000 Sc phocomelia syndrome
- OMIM:181270 Scalp-Ear-Nipple syndrome
- ORPHA:2036 Scalp-ear-nipple syndrome
- ORPHA:3134 SCARF syndrome
- OMIM:312830 Scarf syndrome
- OMIM:615547 Schaaf-Yang syndrome
- OMIM:607016 Scheie syndrome
- ORPHA:93474 Scheie syndrome
- OMIM:164220 Schilbach-Rott syndrome
- ORPHA:59298 Schilder disease
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:312840 Schimke X-linked mental retardation syndrome
- OMIM:163200 Schimmelpenning-Feuerstein-Mims syndrome
- OMIM:609241 Schindler disease, type I
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:799 Schizencephaly
- OMIM:181510 Schizophrenia 1
- OMIM:224750 Schopf-Schulz-Passarge syndrome
- OMIM:615009 Schuurs-Hoeijmakers syndrome
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:255800 Schwartz-jampel syndrome, type 1
- ORPHA:801 Scleroderma
- ORPHA:3152 Sclerosteosis
- OMIM:269500 Sclerosteosis 1
- OMIM:614305 Sclerosteosis 2
- ORPHA:466677 Scorpion envenomation
- ORPHA:83317 Scrub typhus
- ORPHA:158029 Sea-blue histiocytosis
- ORPHA:808 Seckel syndrome
- OMIM:210600 Seckel syndrome 1
- OMIM:617253 Seckel syndrome 10
- OMIM:606744 Seckel syndrome 2
- OMIM:613823 Seckel syndrome 5
- OMIM:614851 Seckel syndrome 7
- ORPHA:99857 Secondary syringomyelia
- OMIM:605407 Segawa syndrome, autosomal recessive
- OMIM:616632 Seizures, cortical blindness, and microcephaly syndrome
- OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome
- ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome
- ORPHA:331235 Selective IgM deficiency
- ORPHA:79411 Self-improving dystrophic epidermolysis bullosa
- ORPHA:220386 Semilobar holoprosencephaly
- OMIM:212350 Sengers syndrome
- ORPHA:3156 Senior-Loken syndrome
- OMIM:266900 Senior-Loken syndrome 1
- OMIM:606995 Senior-Loken syndrome 3
- OMIM:606996 Senior-Loken syndrome 4
- OMIM:609254 Senior-Loken syndrome 5
- OMIM:610189 Senior-Loken syndrome 6
- OMIM:613615 Senior-Loken syndrome 7
- OMIM:616307 Senior-Loken syndrome 8
- OMIM:616629 Senior-Loken syndrome 9
- ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome
- OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- ORPHA:3157 Septo-optic dysplasia spectrum
- OMIM:182230 Septooptic dysplasia
- ORPHA:43116 Serotonin syndrome
- OMIM:600598 Setting-Sun phenomenon, familial benign
- ORPHA:314911 Severe Canavan disease
- OMIM:601457 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- ORPHA:171430 Severe congenital nemaline myopathy
- ORPHA:364055 Severe early-childhood-onset retinal dystrophy
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency
- 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:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome
- ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- ORPHA:2715 Severe oculo-renal-cerebellar syndrome
- ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- OMIM:617190 Shashi-Pena syndrome
- ORPHA:91355 Sheehan syndrome
- ORPHA:810 Shigellosis
- ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency
- ORPHA:1505 Short rib-polydactyly syndrome
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- OMIM:609654 Short stature and facioauriculothoracic malformations
- OMIM:618702 Short stature and microcephaly with genital anomalies
- OMIM:615789 Short stature with microcephaly and distinctive facies
- OMIM:602471 Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities