Liste des examens
Rechercher une pathologie Rechercher un gène
Abnormality of the cardiovascular system
Code Aire thérapeutique (HPO) :
HP:0001626Panel par pathologie associée :
- #
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
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:261120 14q11.2 microdeletion syndrome
- ORPHA:401935 14q24.1q24.3 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:261183 15q11.2 microdeletion syndrome
- ORPHA:238446 15q11q13 microduplication 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:485405 16p12.1p12.3 triplication syndrome
- ORPHA:261236 16p13.11 microdeletion syndrome
- ORPHA:261243 16p13.11 microduplication syndrome
- ORPHA:261250 16q24.3 microdeletion syndrome
- ORPHA:1713 17p11.2 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:447980 19p13.3 microduplication syndrome
- ORPHA:217346 19q13.11 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:238769 1q44 microdeletion syndrome
- ORPHA:261295 20p12.3 microdeletion 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:251014 2q31.1 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- OMIM:250951 3-@methylglutaconic aciduria, type IV
- OMIM:610198 3-@methylglutaconic aciduria, type V
- ORPHA:20 3-hydroxy-3-methylglutaric aciduria
- OMIM:231530 3-Hydroxyacyl-Coa dehydrogenase deficiency
- OMIM:250620 3-Hydroxyisobutyryl-Coa hydrolase deficiency
- ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency
- ORPHA:67048 3-methylglutaconic aciduria type 4
- ORPHA:445038 3-methylglutaconic aciduria type 7
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- OMIM:617248 3-methylglutaconic aciduria, type VIII
- ORPHA:7 3C syndrome
- ORPHA:2616 3M syndrome
- OMIM:257920 3mc syndrome 1
- ORPHA:435638 3p25.3 microdeletion syndrome
- ORPHA:65286 3q29 microdeletion syndrome
- ORPHA:251038 3q29 microduplication syndrome
- ORPHA:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- ORPHA:251046 6p22 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:508488 8q24.3 microdeletion syndrome
- ORPHA:531151 9q21.13 microdeletion syndrome
- ORPHA:401923 9q31.1q31.3 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Code pathologie
Nom de la pathologie
- ORPHA:85445 AA amyloidosis
- ORPHA:439232 AApoAIV amyloidosis
- ORPHA:915 Aarskog-Scott syndrome
- OMIM:147800 Aase-Smith syndrome I
- OMIM:605552 Abdominal obesity-metabolic syndrome 1
- OMIM:615812 Abdominal obesity-metabolic syndrome 3
- OMIM:618620 Abdominal obesity-metabolic syndrome 4
- OMIM:605572 Abdominal obesity-metabolic syndrome quantitative trait locus 2
- ORPHA:100006 ABeta amyloidosis, Dutch type
- ORPHA:324708 ABeta amyloidosis, Iowa type
- ORPHA:324713 ABeta amyloidosis, Italian type
- ORPHA:324703 ABetaL34V amyloidosis
- ORPHA:14 Abetalipoproteinemia
- OMIM:200110 Ablepharon-Macrostomia syndrome
- OMIM:261990 Abnormal hair, joint laxity, and developmental delay
- ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta
- ORPHA:921 Abruzzo-Erickson syndrome
- ORPHA:980 Absence of the pulmonary artery
- ORPHA:945 Acalvaria
- ORPHA:926 Acatalasemia
- ORPHA:48818 Aceruloplasminemia
- OMIM:200400 Achalasia, familial esophageal
- OMIM:231550 Achalasia-Addisonianism-Alacrima syndrome
- ORPHA:932 Achondrogenesis
- ORPHA:93299 Achondrogenesis type 1A
- ORPHA:93298 Achondrogenesis type 1B
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- OMIM:200900 Achondroplasia, so-called, and severe combined immunodeficiency
- ORPHA:49382 Achromatopsia
- ORPHA:40366 Acitretin/etretinate embryopathy
- ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage
- OMIM:300909 Acquired angioedema
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- ORPHA:2221 Acquired hypertrichosis lanuginosa
- ORPHA:454 Acquired ichthyosis
- ORPHA:75564 Acquired idiopathic sideroblastic anemia
- ORPHA:464453 Acquired methemoglobinemia
- ORPHA:49566 Acquired purpura fulminans
- ORPHA:99147 Acquired von Willebrand syndrome
- ORPHA:263534 Acral peeling skin syndrome
- ORPHA:281127 Acral self-healing collodion baby
- ORPHA:959 Acro-renal-ocular syndrome
- OMIM:200990 Acrocallosal syndrome
- ORPHA:2008 Acrocardiofacial syndrome
- OMIM:200995 Acrocephalopolydactylous dysplasia
- ORPHA:221054 Acrocephalopolydactyly
- ORPHA:949 Acrocraniofacial dysostosis
- ORPHA:37 Acrodermatitis enteropathica
- OMIM:201100 Acrodermatitis enteropathica, Zinc-Deficiency type
- OMIM:154400 Acrofacial dysostosis 1, Nager type
- OMIM:616462 Acrofacial dysostosis, Cincinnati type
- ORPHA:1788 Acrofacial dysostosis, Rodríguez type
- ORPHA:2500 Acrogeria
- ORPHA:963 Acromegaly
- OMIM:619636 Acromesomelic dysplasia 4
- OMIM:200980 Acrorenal-Mandibular syndrome
- OMIM:219080 ACTH-independent macronodular adrenal hyperplasia
- OMIM:615954 ACTH-independent macronodular adrenal hyperplasia 2
- ORPHA:95409 Acute adrenal insufficiency
- 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:79276 Acute intermittent porphyria
- ORPHA:79126 Acute interstitial pneumonia
- ORPHA:90062 Acute liver failure
- ORPHA:178320 Acute lung injury
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:86843 Acute panmyelosis with myelofibrosis
- ORPHA:90064 Acute peripheral arterial occlusion
- ORPHA:520 Acute promyelocytic leukemia
- ORPHA:139417 Acute transverse myelitis
- ORPHA:284454 Acute zonal occult outer retinopathy
- ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency
- OMIM:201470 Acyl-Coa dehydrogenase, short-chain, deficiency of
- ORPHA:100008 ACys amyloidosis
- ORPHA:974 Adams-Oliver syndrome
- OMIM:100300 Adams-Oliver syndrome 1
- OMIM:614219 Adams-Oliver syndrome 2
- OMIM:615297 Adams-Oliver syndrome 4
- OMIM:616028 Adams-Oliver syndrome 5
- OMIM:616589 Adams-Oliver syndrome 6
- ORPHA:85138 Addison disease
- ORPHA:976 Adenine phosphoribosyltransferase deficiency
- ORPHA:424016 Adenocarcinoma of the anal canal
- ORPHA:99976 Adenocarcinoma of the esophagus
- ORPHA:95512 Adenohypophysitis
- ORPHA:36397 Adiposis dolorosa
- ORPHA:404448 ADNP syndrome
- OMIM:202010 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
- OMIM:202110 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
- ORPHA:1501 Adrenocortical carcinoma
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- ORPHA:70578 Adult acute respiratory distress syndrome
- 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:420492 Adult-onset cervical dystonia, DYT23 type
- ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329478 Adult-onset distal myopathy due to VCP mutation
- ORPHA:171442 Adult-onset nemaline myopathy
- ORPHA:829 Adult-onset Still disease
- OMIM:202400 Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included
- ORPHA:139507 African iron overload
- ORPHA:3385 African trypanosomiasis
- OMIM:601495 Agammaglobulinemia 1, autosomal recessive
- OMIM:612692 Agammaglobulinemia 6, autosomal recessive
- OMIM:619824 Agammaglobulinemia 8B, autosomal recessive
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:85448 AGel amyloidosis
- OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- OMIM:613623 Agenesis of the corpus callosum and congenital lymphedema
- ORPHA:98850 Aggressive systemic mastocytosis
- ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome
- OMIM:202650 Agnathia-Otocephaly complex
- OMIM:608688 Aicar transformylase/imp cyclohydrolase deficiency
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:610329 Aicardi-Goutieres syndrome 3
- OMIM:610333 Aicardi-Goutieres syndrome 4
- OMIM:615010 Aicardi-Goutieres syndrome 6
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619487 Aicardi-Goutieres syndrome 9
- ORPHA:85443 AL amyloidosis
- OMIM:617694 Al Kaissi syndrome
- OMIM:615510 Alacrima, achalasia, and mental retardation syndrome
- ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:52 Alagille syndrome
- OMIM:118450 Alagille syndrome 1
- ORPHA:319671 Alazami syndrome
- OMIM:103900 Aldosteronism, glucocorticoid-remediable
- ORPHA:58 Alexander disease
- ORPHA:79327 ALG1-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79328 ALG9-CDG
- ORPHA:56 Alkaptonuria
- OMIM:203500 Alkaptonuria
- OMIM:617822 Alkuraya-Kucinskas syndrome
- ORPHA:1164 Allergic bronchopulmonary aspergillosis
- ORPHA:93925 Alobar holoprosencephaly
- OMIM:613490 Alpha-1-Antitrypsin deficiency
- ORPHA:399058 Alpha-B crystallin-related late-onset myopathy
- ORPHA:100025 Alpha-heavy chain disease
- OMIM:248500 Alpha-mannosidosis
- ORPHA:61 Alpha-mannosidosis
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- 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:846 Alpha-thalassemia
- ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:231401 Alpha-thalassemia-myelodysplastic 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:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- ORPHA:284 Alveolar echinococcosis
- OMIM:619268 Alzahrani-Kuwahara syndrome
- OMIM:104350 Amastia, bilateral, with ureteral triplication and dysmorphism
- OMIM:619151 AMED syndrome, digenic
- ORPHA:3386 American trypanosomiasis
- ORPHA:1908 Aminopterin/methotrexate embryofetopathy
- ORPHA:67 Amoebiasis due to Entamoeba histolytica
- ORPHA:68 Amoebiasis due to free-living amoebae
- OMIM:105150 Amyloidosis VI
- OMIM:105200 Amyloidosis, familial visceral
- OMIM:105120 Amyloidosis, Finnish type
- OMIM:105210 Amyloidosis, hereditary, transthyretin-related
- OMIM:616000 Analbuminemia
- ORPHA:142 Anaplastic thyroid carcinoma
- OMIM:607095 Anauxetic dysplasia 1
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- ORPHA:37553 Andersen-Tawil syndrome
- OMIM:224120 Anemia, congenital dyserythropoietic, type Ia
- OMIM:615631 Anemia, congenital dyserythropoietic, type Ib
- OMIM:224100 Anemia, dyserythropoietic congenital, type II
- OMIM:613673 Anemia, dyserythropoietic congenital, type IV
- OMIM:615234 Anemia, hypochromic microcytic, with iron overload 2
- OMIM:206400 Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism
- OMIM:616860 Anemia, sideroblastic, 3, pyridoxine-refractory
- OMIM:206000 Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive
- OMIM:105805 Aneurysm of interventricular septum
- ORPHA:1054 Aneurysm of sinus of Valsalva
- OMIM:105800 Aneurysm, intracranial berry, 1
- OMIM:618734 Aneurysm, intracranial berry, 12
- OMIM:608542 Aneurysm, intracranial berry, 2
- OMIM:609122 Aneurysm, intracranial berry, 3
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- OMIM:106100 Angioedema, hereditary, 1
- OMIM:610618 Angioedema, hereditary, 3
- OMIM:619360 Angioedema, hereditary, 4
- OMIM:619361 Angioedema, hereditary, 5
- OMIM:619363 Angioedema, hereditary, 6
- OMIM:619366 Angioedema, hereditary, 7
- OMIM:619367 Angioedema, hereditary, 8
- OMIM:600419 Angiokeratoma corporis diffusum with arteriovenous fistulas
- ORPHA:95429 Angioma serpiginosum
- OMIM:106070 Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included
- OMIM:607859 Angioma, tufted
- OMIM:206570 Angiomatosis, diffuse corticomeningeal, of divry and van bogaert
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:75508 Angioosteohypotrophic syndrome
- OMIM:611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
- OMIM:106210 Aniridia
- ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
- ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- OMIM:106500 Annular erythema
- ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12
- ORPHA:69125 Anonychia with flexural pigmentation
- ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome
- OMIM:601631 Anterior segment dysgenesis 3
- ORPHA:375 Anti-glomerular basement membrane disease
- OMIM:107320 Antiphospholipid syndrome, familial
- ORPHA:81 Antisynthetase syndrome
- OMIM:613118 Antithrombin III deficiency
- 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
- ORPHA:1457 Aorta coarctation
- OMIM:100070 Aortic aneurysm, abdominal
- OMIM:617168 Aortic aneurysm, familial thoracic 10
- OMIM:617349 Aortic aneurysm, familial thoracic 11, susceptibility to
- OMIM:619825 Aortic aneurysm, familial thoracic 12
- OMIM:132900 Aortic aneurysm, familial thoracic 4
- OMIM:611788 Aortic aneurysm, familial thoracic 6
- OMIM:613780 Aortic aneurysm, familial thoracic 7
- OMIM:615436 Aortic aneurysm, familial thoracic 8
- OMIM:616166 Aortic aneurysm, familial thoracic 9
- OMIM:107500 Aortic arch anomaly with peculiar facies and mental retardation
- ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- ORPHA:2299 Aortic arch interruption
- OMIM:107550 Aortic arch interruption, facial palsy, and retinal coloboma
- OMIM:109730 Aortic valve disease 1
- OMIM:614823 Aortic valve disease 2
- OMIM:618496 Aortic valve disease 3
- ORPHA:3400 Aorto-ventricular tunnel
- OMIM:101200 Apert syndrome
- ORPHA:87 Apert syndrome
- OMIM:207620 Aphalangy with hemivertebrae
- ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- OMIM:207731 Aplasia cutis congenita with intestinal lymphangiectasia
- ORPHA:425 Apolipoprotein A-I deficiency
- OMIM:207750 Apolipoprotein C-II deficiency
- OMIM:218030 Apparent mineralocorticoid excess
- ORPHA:320 Apparent mineralocorticoid excess
- ORPHA:2356 Arachnoid cyst
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:1133 AREDYLD syndrome
- ORPHA:101096 Aregenerative anemia
- OMIM:243910 Arima syndrome
- OMIM:608643 Aromatic L-amino acid decarboxylase deficiency
- OMIM:611528 Arrhythmogenic right ventricular dysplasia 12
- OMIM:107970 Arrhythmogenic right ventricular dysplasia, familial, 1
- OMIM:610193 Arrhythmogenic right ventricular dysplasia, familial, 10
- OMIM:610476 Arrhythmogenic right ventricular dysplasia, familial, 11
- OMIM:615616 Arrhythmogenic right ventricular dysplasia, familial, 13
- OMIM:618920 Arrhythmogenic right ventricular dysplasia, familial, 14
- OMIM:600996 Arrhythmogenic right ventricular dysplasia, familial, 2
- OMIM:602086 Arrhythmogenic right ventricular dysplasia, familial, 3
- OMIM:602087 Arrhythmogenic right ventricular dysplasia, familial, 4
- OMIM:604400 Arrhythmogenic right ventricular dysplasia, familial, 5
- OMIM:604401 Arrhythmogenic right ventricular dysplasia, familial, 6
- OMIM:607450 Arrhythmogenic right ventricular dysplasia, familial, 8
- OMIM:609040 Arrhythmogenic right ventricular dysplasia, familial, 9
- OMIM:208000 Arterial calcification, generalized, of infancy, 1
- OMIM:614473 Arterial calcification, generalized, of infancy, 2
- OMIM:600459 Arterial dissection with lentiginosis
- ORPHA:1682 Arterial dissection-lentiginosis syndrome
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:208050 Arterial tortuosity syndrome
- OMIM:108000 Arteries, anomalies of
- OMIM:208060 Arteriosclerosis, severe juvenile
- OMIM:108010 Arteriovenous malformation of the brain, somatic
- OMIM:108050 Arteritis, familial granulomatous, with juvenile polyarthritis
- OMIM:618947 Arthrogryposis multiplex congenita 5
- OMIM:208155 Arthrogryposis multiplex congenita with whistling face
- OMIM:208100 Arthrogryposis multiplex congenita, Neurogenic type
- OMIM:614262 Arthrogryposis, perthes disease, and upward gaze palsy
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- ORPHA:2302 Asbestos intoxication
- ORPHA:93 Aspartylglucosaminuria
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:1163 Aspergillosis
- OMIM:271400 Asplenia, isolated congenital
- ORPHA:96 Ataxia with vitamin E deficiency
- OMIM:208750 Ataxia, deafness, and cardiomyopathy
- OMIM:609033 Ataxia, posterior column, with retinitis pigmentosa
- ORPHA:459033 Ataxia-oculomotor apraxia type 4
- ORPHA:2585 Ataxia-pancytopenia syndrome
- ORPHA:1184 Ataxia-photosensitivity-short stature syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- OMIM:604391 Ataxia-telangiectasia-like disorder 1
- OMIM:615919 Ataxia-Telangiectasia-Like disorder 2
- ORPHA:56304 Atelosteogenesis type II
- OMIM:601536 Athabaskan brainstem dysgenesis syndrome
- OMIM:108725 Atherosclerosis susceptibility
- OMIM:209010 Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease
- ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- ORPHA:163934 Atopic keratoconjunctivitis
- OMIM:209300 ATRANSFERRINEMIA
- ORPHA:1201 Atresia of small intestine
- ORPHA:105 Atresia of urethra
- OMIM:608583 Atrial fibrillation, familial, 1
- OMIM:614022 Atrial fibrillation, familial, 10
- OMIM:614049 Atrial fibrillation, familial, 11
- OMIM:614050 Atrial fibrillation, familial, 12
- OMIM:615377 Atrial fibrillation, familial, 13
- OMIM:615378 Atrial fibrillation, familial, 14
- OMIM:615770 Atrial fibrillation, familial, 15
- OMIM:617280 Atrial fibrillation, familial, 18
- OMIM:608988 Atrial fibrillation, familial, 2
- OMIM:607554 Atrial fibrillation, familial, 3
- OMIM:611493 Atrial fibrillation, familial, 4
- OMIM:611494 Atrial fibrillation, familial, 5
- OMIM:612201 Atrial fibrillation, familial, 6
- OMIM:612240 Atrial fibrillation, familial, 7
- OMIM:613980 Atrial fibrillation, familial, 9
- OMIM:108800 Atrial septal defect 1
- OMIM:607941 Atrial septal defect 2
- OMIM:614089 Atrial septal defect 3
- OMIM:611363 Atrial septal defect 4
- OMIM:612794 Atrial septal defect 5
- OMIM:613087 Atrial septal defect 6
- OMIM:614433 Atrial septal defect 8
- OMIM:614475 Atrial septal defect 9
- OMIM:108900 Atrial septal defect with atrioventricular conduction defects
- ORPHA:99104 Atrial septal defect, coronary sinus type
- ORPHA:99106 Atrial septal defect, ostium primum type
- ORPHA:99103 Atrial septal defect, ostium secundum type
- ORPHA:99105 Atrial septal defect, sinus venosus type
- ORPHA:1479 Atrial septal defect-atrioventricular conduction defects syndrome
- ORPHA:1344 Atrial standstill
- OMIM:108770 Atrial standstill 1
- OMIM:615745 Atrial standstill 2
- OMIM:108950 Atrial tachyarrhythmia with short pr interval
- ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- OMIM:209600 Atrioventricular dissociation
- OMIM:600309 Atrioventricular septal defect 3
- OMIM:614430 Atrioventricular septal defect 4
- OMIM:614474 Atrioventricular septal defect 5
- OMIM:600123 Atrioventricular septal defect with blepharophimosis and anal andradial defects
- OMIM:606217 Atrioventricular septal defect, susceptibility to, 2
- OMIM:209700 Atrophoderma vermiculata
- ORPHA:79100 Atrophoderma vermiculata
- ORPHA:352723 Attenuated Chédiak-Higashi syndrome
- ORPHA:85451 ATTRV122I amyloidosis
- ORPHA:85447 ATTRV30M amyloidosis
- ORPHA:79474 Atypical Werner syndrome
- OMIM:209770 Aural atresia, multiple congenital anomalies, and mental retardation
- OMIM:109050 Auralcephalosyndactyly
- ORPHA:137888 Auriculocondylar syndrome
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- OMIM:615952 Autoimmune disease, multisystem, infantile-onset, 1
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:98375 Autoimmune hemolytic anemia
- ORPHA:228312 Autoimmune hemolytic anemia, cold type
- ORPHA:90033 Autoimmune hemolytic anemia, warm type
- ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- ORPHA:2137 Autoimmune hepatitis
- ORPHA:36913 Autoimmune hypoparathyroidism
- OMIM:616414 Autoimmune interstitial lung, joint, and kidney disease
- OMIM:601859 Autoimmune lymphoproliferative syndrome
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:603909 Autoimmune lymphoproliferative syndrome, type IIA
- OMIM:607271 Autoimmune lymphoproliferative syndrome, type IIB
- OMIM:615559 Autoimmune lymphoproliferative syndrome, type III
- OMIM:616100 Autoimmune lymphoproliferative syndrome, type V
- 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
- ORPHA:747 Autoimmune pulmonary alveolar proteinosis
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:618852 Autoinflammation with episodic fever and lymphadenopathy
- OMIM:616050 Autoinflammation with infantile enterocolitis
- OMIM:614878 Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
- OMIM:618999 Autoinflammation, immune dysregulation, and eosinophilia
- OMIM:617099 Autoinflammation, panniculitis, and dermatosis syndrome
- OMIM:301081 Autoinflammatory disease, systemic, X-linked
- OMIM:619375 Autoinflammatory syndrome, familial, with or without immunodeficiency
- OMIM:619858 Autoinflammatory-pancytopenia syndrome
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:99 Autosomal dominant cerebellar ataxia
- ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K
- ORPHA:1455 Autosomal dominant coarctation of aorta
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia
- ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency
- ORPHA:428 Autosomal dominant hypocalcemia
- ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- ORPHA:1215 Autosomal dominant optic atrophy plus syndrome
- ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia
- ORPHA:730 Autosomal dominant polycystic kidney disease
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:3107 Autosomal dominant Robinow syndrome
- ORPHA:486 Autosomal dominant severe congenital neutropenia
- ORPHA:100991 Autosomal dominant spastic paraplegia type 10
- ORPHA:447753 Autosomal dominant spastic paraplegia type 9A
- ORPHA:1797 Autosomal dominant spondylocostal dysostosis
- ORPHA:79278 Autosomal erythropoietic protoporphyria
- ORPHA:1027 Autosomal recessive amelia
- ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- ORPHA:169186 Autosomal recessive centronuclear myopathy
- OMIM:600142 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
- ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:90349 Autosomal recessive cutis laxa type 1
- ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type
- ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:2990 Autosomal recessive multiple pterygium syndrome
- ORPHA:93329 Autosomal recessive omodysplasia
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:1507 Autosomal recessive Robinow syndrome
- ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- ORPHA:2822 Autosomal recessive spastic paraplegia type 11
- ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:454836 Avian influenza
- ORPHA:782 Axenfeld-Rieger syndrome
- OMIM:601499 Axenfeld-rieger syndrome, type 2
- OMIM:602482 Axenfeld-Rieger syndrome, type 3
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- ORPHA:1272 Aymé-Gripp syndrome
- OMIM:601088 Ayme-Gripp syndrome
Code pathologie
Nom de la pathologie
- OMIM:616452 B-cell expansion with NFKB and T-cell anergy
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:79332 B4GALT1-CDG
- ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:108 Babesiosis
- ORPHA:36234 Bacterial toxic-shock syndrome
- OMIM:218600 Baller-Gerold syndrome
- ORPHA:1225 Baller-Gerold syndrome
- OMIM:251290 Band-Like calcification with simplified gyration and polymicrogyria
- 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
- ORPHA:110 Bardet-Biedl syndrome
- OMIM:209900 Bardet-Biedl syndrome 1
- OMIM:615990 Bardet-Biedl syndrome 13
- OMIM:615994 Bardet-Biedl syndrome 17
- OMIM:615981 Bardet-Biedl syndrome 2
- OMIM:619471 Bardet-Biedl syndrome 20
- OMIM:600151 Bardet-Biedl syndrome 3
- OMIM:615985 Bardet-Biedl syndrome 8
- OMIM:615986 Bardet-Biedl syndrome 9
- OMIM:302060 Barth syndrome
- ORPHA:111 Barth syndrome
- ORPHA:1234 Bartsocas-Papas syndrome
- ORPHA:89938 Bartter syndrome type 4
- OMIM:601678 Bartter syndrome, type 1, antenatal
- OMIM:241200 Bartter syndrome, type 2
- OMIM:607364 Bartter syndrome, type 3
- OMIM:109400 Basal cell nevus syndrome
- OMIM:213600 Basal ganglia calcification, idiopathic, 1
- OMIM:114100 Basal ganglia calcification, idiopathic, childhood-onset
- OMIM:616449 Basel-Vanagaite-Smirin-Yosef syndrome
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- 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
- OMIM:209970 Beemer lethal malformation syndrome
- ORPHA:1237 Beemer-Ertbruggen syndrome
- ORPHA:117 Behçet disease
- OMIM:109650 Behcet syndrome
- OMIM:169600 Benign chronic pemphigus
- OMIM:614592 Bent bone dysplasia syndrome
- OMIM:620076 Bent bone dysplasia syndrome 2
- OMIM:231200 Bernard-Soulier syndrome
- ORPHA:274 Bernard-Soulier syndrome
- OMIM:153670 Bernard-Soulier syndrome, type A2, autosomal dominant
- OMIM:210050 Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
- ORPHA:134 Beta-ketothiolase deficiency
- ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria
- ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- ORPHA:848 Beta-thalassemia
- ORPHA:231222 Beta-thalassemia intermedia
- ORPHA:231214 Beta-thalassemia major
- ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome
- OMIM:158810 Bethlem myopathy 1
- OMIM:608980 Bifid nose with or without anorectal and renal anomalies
- ORPHA:1980 Bilateral striopallidodentate calcinosis
- OMIM:607765 Bile acid synthesis defect, congenital, 1
- OMIM:235555 Bile acid synthesis defect, congenital, 2
- OMIM:613812 Bile acid synthesis defect, congenital, 3
- OMIM:616278 Bile acid synthesis defect, congenital, 5
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:79241 Biotinidase deficiency
- OMIM:253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset
- ORPHA:179 Birdshot chorioretinopathy
- OMIM:617595 Birk-Landau-Perez 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
- OMIM:614201 Bleeding disorder, platelet-type, 11
- OMIM:605735 Bleeding disorder, platelet-type, 12
- OMIM:614009 Bleeding disorder, platelet-type, 13, susceptibility to
- OMIM:614158 Bleeding disorder, platelet-type, 14
- OMIM:187800 Bleeding disorder, platelet-type, 16
- OMIM:187900 Bleeding disorder, platelet-type, 17
- OMIM:616176 Bleeding disorder, platelet-type, 19
- OMIM:616913 Bleeding disorder, platelet-type, 20
- OMIM:618462 Bleeding disorder, platelet-type, 22
- OMIM:609821 Bleeding disorder, platelet-type, 8
- OMIM:614200 Bleeding disorder, platelet-type, 9
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:619293 Blepharophimosis-impaired intellectual development syndrome
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- ORPHA:1059 Blue rubber bleb nevus
- OMIM:112200 Blue rubber bleb nevus
- ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- ORPHA:1842 Bone dysplasia, lethal Holmgren type
- OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness
- ORPHA:1267 Botulism
- OMIM:619543 Boudin-Mortier syndrome
- ORPHA:83313 Boutonneuse fever
- ORPHA:1270 Bowen-Conradi syndrome
- OMIM:601357 Brachial amelia, cleft lip, and holoprosencephaly
- OMIM:113000 Brachydactyly, type B1
- OMIM:113301 Brachydactyly, type e, with atrial septal defect, type II
- ORPHA:1276 Brachydactyly-arterial hypertension syndrome
- ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome
- ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome
- OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- ORPHA:52047 Braddock syndrome
- OMIM:619980 Braddock-Carey syndrome 1
- ORPHA:352649 Brain dopamine-serotonin vesicular transport disease
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- OMIM:613735 Brain malformations with or without urinary tract defects
- 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:618360 Brain small vessel disease 3
- ORPHA:209905 Brain-lung-thyroid syndrome
- OMIM:301950 Branchial arch syndrome, X-linked
- ORPHA:1297 Branchio-oculo-facial syndrome
- OMIM:113620 Branchiooculofacial syndrome
- ORPHA:90354 Brittle cornea syndrome
- OMIM:229200 Brittle cornea syndrome
- OMIM:614170 Brittle cornea syndrome 2
- ORPHA:97287 Bronchial neuroendocrine tumor
- ORPHA:2357 Bronchogenic cyst
- ORPHA:70589 Bronchopulmonary dysplasia
- ORPHA:1304 Brucellosis
- ORPHA:130 Brugada syndrome
- OMIM:601144 Brugada syndrome 1
- OMIM:611777 Brugada syndrome 2
- OMIM:611875 Brugada syndrome 3
- OMIM:611876 Brugada syndrome 4
- OMIM:612838 Brugada syndrome 5
- OMIM:613119 Brugada syndrome 6
- OMIM:613120 Brugada syndrome 7
- OMIM:613123 Brugada syndrome 8
- OMIM:616399 Brugada syndrome 9
- OMIM:619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1
- OMIM:619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2
- OMIM:600880 Budd-Chiari syndrome
- ORPHA:131 Budd-Chiari syndrome
- OMIM:211480 Buerger disease
- ORPHA:36258 Buerger disease
- ORPHA:280785 Bullous diffuse cutaneous mastocytosis
- ORPHA:36237 Bullous impetigo
- ORPHA:703 Bullous pemphigoid
- OMIM:113950 Bundle branch block, familial isolated complete right
- OMIM:619314 Buratti-Harel syndrome
- ORPHA:543 Burkitt lymphoma
- ORPHA:1200 Burn-McKeown syndrome
- OMIM:608572 Burn-Mckeown syndrome
- ORPHA:1306 Buschke-Ollendorff syndrome
- ORPHA:132 Butyrylcholinesterase deficiency
Code pathologie
Nom de la pathologie
- ORPHA:1308 C syndrome
- OMIM:211750 C syndrome
- ORPHA:329918 C3 glomerulopathy
- ORPHA:135 CACH syndrome
- OMIM:114065 Calcific aortic disease with immunologic abnormalities, familial
- OMIM:211800 Calcification of joints and arteries
- ORPHA:280062 Calciphylaxis
- ORPHA:1318 Campomelia, Cumming type
- OMIM:211890 Campomelia, Cumming type
- OMIM:114290 Campomelic dysplasia
- ORPHA:140 Campomelic dysplasia
- OMIM:211960 Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases
- OMIM:208250 Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome
- ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:606631 Camurati-engelmann disease, type 2
- ORPHA:71505 Cancer-associated retinopathy
- OMIM:212050 Candidiasis, familial chronic mucocutaneous, autosomal recessive
- ORPHA:1517 Cantú syndrome
- ORPHA:171881 Cap myopathy
- ORPHA:160148 Cap polyposis
- OMIM:613089 Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- OMIM:608354 Capillary malformation-arteriovenous malformation 1
- OMIM:618196 Capillary malformation-arteriovenous malformation 2
- ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome
- OMIM:237300 Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to
- OMIM:212070 Carboxypeptidase N deficiency
- ORPHA:100093 Carcinoid syndrome
- ORPHA:70482 Carcinoma of esophagus
- OMIM:600919 Cardiac arrhythmia, ankyrin-B-related
- OMIM:115080 Cardiac conduction defectsudden cardiac death, included
- OMIM:616117 Cardiac conduction disease with or without dilated cardiomyopathy
- ORPHA:1686 Cardiac diverticulum
- OMIM:212080 Cardiac lipidosis, familial
- OMIM:212090 Cardiac septal defects with coarctation of the aorta
- OMIM:212093 Cardiac valvular defect, developmental
- OMIM:620067 Cardiac valvular dysplasia 2
- OMIM:314400 Cardiac valvular dysplasia, X-linked
- OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay
- OMIM:618280 Cardiac-Urogenital syndrome
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- OMIM:619142 Cardioacrofacial dysplasia 1
- OMIM:619143 Cardioacrofacial dysplasia 2
- OMIM:212100 Cardioauditory syndrome of sanchez cascos
- ORPHA:2872 Cardiocranial syndrome, Pfeiffer type
- OMIM:616500 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
- 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
- ORPHA:97292 Cardiogenic shock
- OMIM:212130 Cardiomyopathy associated with myopathy and sudden death
- OMIM:115200 Cardiomyopathy, dilated, 1A
- OMIM:612158 Cardiomyopathy, dilated, 1AA, with or without LVNC
- OMIM:600884 Cardiomyopathy, dilated, 1B
- OMIM:612877 Cardiomyopathy, dilated, 1BB
- OMIM:601493 Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction
- OMIM:613122 Cardiomyopathy, dilated, 1cc
- OMIM:601494 Cardiomyopathy, dilated, 1D
- OMIM:613172 Cardiomyopathy, dilated, 1DD
- OMIM:601154 Cardiomyopathy, dilated, 1E
- OMIM:613252 Cardiomyopathy, dilated, 1EE
- OMIM:613286 Cardiomyopathy, dilated, 1FF
- OMIM:604145 Cardiomyopathy, dilated, 1G
- OMIM:613642 Cardiomyopathy, dilated, 1GG
- OMIM:604288 Cardiomyopathy, dilated, 1H
- OMIM:613881 Cardiomyopathy, dilated, 1HH
- OMIM:604765 Cardiomyopathy, dilated, 1I
- OMIM:615184 Cardiomyopathy, dilated, 1II
- OMIM:605362 Cardiomyopathy, dilated, 1J
- OMIM:615235 Cardiomyopathy, dilated, 1JJ
- OMIM:605582 Cardiomyopathy, dilated, 1K
- OMIM:615248 Cardiomyopathy, dilated, 1KK
- OMIM:606685 Cardiomyopathy, dilated, 1L
- OMIM:607482 Cardiomyopathy, dilated, 1M
- OMIM:615916 Cardiomyopathy, dilated, 1nn
- OMIM:608569 Cardiomyopathy, dilated, 1O
- OMIM:609909 Cardiomyopathy, dilated, 1P
- OMIM:609915 Cardiomyopathy, dilated, 1Q
- OMIM:613424 Cardiomyopathy, dilated, 1R
- OMIM:613426 Cardiomyopathy, dilated, 1S
- OMIM:613694 Cardiomyopathy, dilated, 1U
- OMIM:613697 Cardiomyopathy, dilated, 1V
- OMIM:611407 Cardiomyopathy, dilated, 1W
- OMIM:611615 Cardiomyopathy, dilated, 1X
- OMIM:611878 Cardiomyopathy, dilated, 1Y
- OMIM:611879 Cardiomyopathy, dilated, 1Z
- OMIM:611880 Cardiomyopathy, dilated, 2A
- OMIM:614672 Cardiomyopathy, dilated, 2B
- OMIM:618189 Cardiomyopathy, dilated, 2C
- OMIM:619371 Cardiomyopathy, dilated, 2D
- OMIM:619492 Cardiomyopathy, dilated, 2E
- OMIM:619747 Cardiomyopathy, dilated, 2F
- OMIM:619897 Cardiomyopathy, dilated, 2G
- OMIM:302045 Cardiomyopathy, dilated, 3B
- OMIM:605676 Cardiomyopathy, dilated, with woolly hair and keratoderma
- OMIM:615821 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
- OMIM:192600 Cardiomyopathy, familial hypertrophic 1
- OMIM:618052 Cardiomyopathy, familial hypertrophic 27
- OMIM:608758 Cardiomyopathy, familial hypertrophic, 10
- OMIM:612098 Cardiomyopathy, familial hypertrophic, 11
- OMIM:612124 Cardiomyopathy, familial hypertrophic, 12
- OMIM:613243 Cardiomyopathy, familial hypertrophic, 13
- OMIM:613251 Cardiomyopathy, familial hypertrophic, 14
- OMIM:613255 Cardiomyopathy, familial hypertrophic, 15
- OMIM:613838 Cardiomyopathy, familial hypertrophic, 16
- OMIM:613873 Cardiomyopathy, familial hypertrophic, 17
- OMIM:613874 Cardiomyopathy, familial hypertrophic, 18
- OMIM:613875 Cardiomyopathy, familial hypertrophic, 19
- OMIM:115195 Cardiomyopathy, familial hypertrophic, 2
- OMIM:613876 Cardiomyopathy, familial hypertrophic, 20
- OMIM:614676 Cardiomyopathy, familial hypertrophic, 21
- OMIM:607487 Cardiomyopathy, familial hypertrophic, 25
- OMIM:617047 Cardiomyopathy, familial hypertrophic, 26
- OMIM:619402 Cardiomyopathy, familial hypertrophic, 28
- OMIM:115196 Cardiomyopathy, familial hypertrophic, 3
- OMIM:115197 Cardiomyopathy, familial hypertrophic, 4
- OMIM:600858 Cardiomyopathy, familial hypertrophic, 6
- OMIM:613690 Cardiomyopathy, familial hypertrophic, 7
- OMIM:608751 Cardiomyopathy, familial hypertrophic, 8
- OMIM:613765 Cardiomyopathy, familial hypertrophic, 9
- OMIM:115210 Cardiomyopathy, familial restrictive, 1
- OMIM:612422 Cardiomyopathy, familial restrictive, 3
- OMIM:619433 Cardiomyopathy, familial restrictive, 6
- ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome
- ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome
- OMIM:606842 Cardioneuromyopathy with hyaline masses and nemaline rods
- OMIM:212135 Cardioskeletal syndrome, Kuwaiti type
- OMIM:157800 Cardiospondylocarpofacial syndrome
- ORPHA:3238 Cardiospondylocarpofacial syndrome
- ORPHA:1358 Carey-Fineman-Ziter syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- ORPHA:97355 Caribbean parkinsonism
- ORPHA:1359 Carney complex
- OMIM:608837 Carney complex variant
- OMIM:160980 Carney complex, type 1
- ORPHA:139411 Carney triad
- ORPHA:97286 Carney-Stratakis syndrome
- OMIM:212140 Carnitine deficiency, systemic primary
- ORPHA:156 Carnitine palmitoyl transferase 1A deficiency
- ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form
- ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form
- OMIM:255120 Carnitine palmitoyltransferase I deficiency
- ORPHA:157 Carnitine palmitoyltransferase II deficiency
- OMIM:600649 Carnitine palmitoyltransferase II deficiency, infantile
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- OMIM:212138 Carnitine-acylcarnitine translocase deficiency
- ORPHA:159 Carnitine-acylcarnitine translocase deficiency
- ORPHA:53035 Caroli disease
- OMIM:600643 Caroli disease, isolated
- ORPHA:480520 Caroli syndrome
- ORPHA:65759 Carpenter syndrome
- OMIM:201000 Carpenter syndrome 1
- OMIM:614976 Carpenter syndrome 2
- ORPHA:175 Cartilage-hair hypoplasia
- ORPHA:65282 Carvajal syndrome
- ORPHA:160 Castleman disease
- OMIM:115470 Cat eye syndrome
- ORPHA:195 Cat-eye syndrome
- OMIM:212500 Cataract 46, juvenile-onset
- ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome
- ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia
- OMIM:616145 Catel-Manzke syndrome
- ORPHA:1388 Catel-Manzke syndrome
- ORPHA:3027 Caudal regression syndrome
- OMIM:125520 Cayler cardiofacial syndrome
- ORPHA:66631 CEDNIK syndrome
- OMIM:116870 Celiac artery stenosis from compression by median arcuate ligamentof diaphragm
- OMIM:212780 Cenani-Lenz syndactyly syndrome
- ORPHA:597 Central core disease
- OMIM:619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- OMIM:619483 Central hypoventilation syndrome, congenital, 3
- ORPHA:411527 Central retinal vein occlusion
- ORPHA:90156 Centrifugal lipodystrophy
- OMIM:212800 Cephalin lipidosis
- OMIM:601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
- OMIM:619576 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
- OMIM:618479 Cerebellar, ocular, craniofacial, and genital syndrome
- ORPHA:444072 Cerebellar-facial-dental syndrome
- OMIM:616202 Cerebellofaciodental syndrome
- OMIM:605714 Cerebral amyloid angiopathy, APP-related
- OMIM:616779 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy
- ORPHA:46724 Cerebral arteriovenous malformation
- ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
- OMIM:116860 Cerebral cavernous malformations 1
- OMIM:603284 Cerebral cavernous malformations 2
- OMIM:603285 Cerebral cavernous malformations 3
- OMIM:619538 Cerebral cavernous malformations 4
- OMIM:300352 Cerebral creatine deficiency syndrome 1
- ORPHA:447788 Cerebral visual impairment
- ORPHA:1393 Cerebrocostomandibular syndrome
- OMIM:117650 Cerebrocostomandibular syndrome
- ORPHA:314679 Cerebrofacioarticular syndrome
- OMIM:610758 Cerebrooculofacioskeletal syndrome 4
- 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:204200 Ceroid lipofuscinosis, neuronal, 3
- OMIM:214200 Ceroid storage disease
- OMIM:169100 Char syndrome
- ORPHA:46627 Char syndrome
- OMIM:118301 Charcot-Marie-Tooth disease with ptosis and parkinsonism
- OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- OMIM:214500 Chediak-Higashi syndrome
- ORPHA:167 Chédiak-Higashi syndrome
- OMIM:118400 Cherubism
- ORPHA:324625 Chikungunya
- ORPHA:90280 Chilblain lupus
- OMIM:610448 Chilblain lupus 1
- 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:613611 Choanal atresia and lymphedema
- ORPHA:173 Cholera
- OMIM:211600 Cholestasis, progressive familial intrahepatic 1
- OMIM:601847 Cholestasis, progressive familial intrahepatic 2
- OMIM:615878 Cholestasis, progressive familial intrahepatic 4
- OMIM:619868 Cholestasis, progressive familial intrahepatic, 10
- OMIM:620010 Cholestasis, progressive familial intrahepatic, 12
- OMIM:602347 Cholestasis, progressive familial intrahepatic, 3
- OMIM:619484 Cholestasis, progressive familial intrahepatic, 6
- OMIM:619658 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
- OMIM:619662 Cholestasis, progressive familial intrahepatic, 8
- OMIM:619849 Cholestasis, progressive familial intrahepatic, 9
- ORPHA:1414 Cholestasis-lymphedema syndrome
- OMIM:214900 Cholestasis-Lymphedema syndrome
- ORPHA:79506 Cholesterol-ester transfer protein deficiency
- ORPHA:75234 Cholesteryl ester storage disease
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- OMIM:616368 CHOPS syndrome
- ORPHA:2388 Choreoacanthocytosis
- OMIM:610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
- OMIM:303100 CHOROIDEREMIA
- ORPHA:182 Chromomycosis
- OMIM:609625 Chromosome 10q26 deletion syndrome
- 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:616898 Chromosome 15q14 deletion syndrome
- OMIM:614294 Chromosome 15q25 deletion syndrome
- OMIM:612626 Chromosome 15q26-qter deletion syndrome
- OMIM:136570 Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included
- OMIM:610543 Chromosome 16p13.3 deletion syndrome
- OMIM:613458 Chromosome 16p13.3 duplication syndrome
- OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb
- OMIM:618874 Chromosome 17q11.2 duplication syndrome, 1.4-Mb
- OMIM:614526 Chromosome 17Q12 duplication syndrome
- OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal
- OMIM:617219 Chromosome 19q13.11 deletion syndrome, proximal
- OMIM:607872 Chromosome 1p36 deletion syndrome
- OMIM:619343 Chromosome 1p36 deletion syndrome, proximal
- OMIM:618815 Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster
- OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb
- OMIM:612530 Chromosome 1q41-q42 deletion syndrome
- OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal
- OMIM:608363 Chromosome 22q11.2 duplication syndrome
- OMIM:600430 Chromosome 2q37 deletion syndrome
- OMIM:613792 Chromosome 3pter-p25 deletion syndrome
- OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome
- OMIM:615668 Chromosome 5q12 deletion syndrome
- OMIM:612582 Chromosome 6pter-p24 deletion syndrome
- OMIM:612863 Chromosome 6q25-q25 deletion 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:616201 Chronic atrial and intestinal dysrhythmia
- ORPHA:133 Chronic beryllium disease
- ORPHA:99921 Chronic graft versus host disease
- ORPHA:379 Chronic granulomatous disease
- OMIM:618935 Chronic granulomatous disease 5, autosomal recessive
- OMIM:306400 Chronic granulomatous disease, X-linked
- ORPHA:2978 Chronic intestinal pseudoobstruction
- ORPHA:1334 Chronic mucocutaneous candidiasis
- ORPHA:521 Chronic myeloid leukemia
- ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- ORPHA:91359 Chronic pneumonitis of infancy
- ORPHA:70591 Chronic thromboembolic pulmonary hypertension
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- ORPHA:263463 CHST3-related skeletal dysplasia
- OMIM:118830 Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase
- OMIM:244400 Ciliary dyskinesia, primary, 1
- OMIM:612518 Ciliary dyskinesia, primary, 10
- OMIM:612650 Ciliary dyskinesia, primary, 12
- OMIM:613193 Ciliary dyskinesia, primary, 13
- OMIM:613807 Ciliary dyskinesia, primary, 14
- OMIM:613808 Ciliary dyskinesia, primary, 15
- OMIM:614017 Ciliary dyskinesia, primary, 16
- OMIM:614679 Ciliary dyskinesia, primary, 17
- OMIM:614874 Ciliary dyskinesia, primary, 18
- OMIM:614935 Ciliary dyskinesia, primary, 19
- OMIM:606763 Ciliary dyskinesia, primary, 2
- OMIM:615067 Ciliary dyskinesia, primary, 20
- OMIM:615444 Ciliary dyskinesia, primary, 22
- OMIM:615451 Ciliary dyskinesia, primary, 23
- OMIM:615481 Ciliary dyskinesia, primary, 24
- OMIM:615482 Ciliary dyskinesia, primary, 25
- OMIM:615500 Ciliary dyskinesia, primary, 26
- OMIM:615504 Ciliary dyskinesia, primary, 27
- OMIM:615505 Ciliary dyskinesia, primary, 28
- OMIM:615872 Ciliary dyskinesia, primary, 29
- OMIM:608644 Ciliary dyskinesia, primary, 3, with or without situs inversus
- OMIM:616037 Ciliary dyskinesia, primary, 30
- OMIM:616481 Ciliary dyskinesia, primary, 32
- OMIM:617092 Ciliary dyskinesia, primary, 35
- OMIM:300991 Ciliary dyskinesia, primary, 36, X-linked
- OMIM:617577 Ciliary dyskinesia, primary, 37
- OMIM:618063 Ciliary dyskinesia, primary, 38
- OMIM:618254 Ciliary dyskinesia, primary, 39
- OMIM:618300 Ciliary dyskinesia, primary, 40
- OMIM:620032 Ciliary dyskinesia, primary, 48, without situs inversus
- OMIM:611884 Ciliary dyskinesia, primary, 7
- OMIM:612444 Ciliary dyskinesia, primary, 9, with or without situs inversus
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- OMIM:215550 Circumvallate placenta syndrome
- OMIM:215600 Cirrhosis, familial
- ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- ORPHA:57777 Cirrhotic cardiomyopathy
- OMIM:215700 Citrullinemia, classic
- ORPHA:168984 CLAPO syndrome
- ORPHA:391 Classic Hodgkin lymphoma
- ORPHA:394 Classic homocystinuria
- ORPHA:324604 Classic multiminicore myopathy
- ORPHA:2584 Classic mycosis fungoides
- ORPHA:240071 Classic progressive supranuclear palsy syndrome
- ORPHA:287 Classical Ehlers-Danlos syndrome
- ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- 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:215850 Cleft-Limb-Heart malformation syndrome
- ORPHA:228346 CLN3 disease
- OMIM:129500 Clouston syndrome
- ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome
- OMIM:216360 Coach syndrome 1
- OMIM:619111 Coach syndrome 2
- OMIM:120000 Coarctation of aorta
- OMIM:300216 Coats disease
- ORPHA:190 Coats disease
- ORPHA:1911 Cocaine embryofetopathy
- ORPHA:90068 Cocaine intoxication
- ORPHA:228123 Coccidioidomycosis
- 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:614654 Coenzyme Q10 deficiency, primary, 5
- OMIM:616276 Coenzyme Q10 deficiency, primary, 7
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- ORPHA:192 Coffin-Lowry syndrome
- OMIM:303600 Coffin-Lowry syndrome
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:135900 Coffin-Siris syndrome 1
- OMIM:618506 Coffin-Siris syndrome 10
- OMIM:619325 Coffin-Siris syndrome 12
- OMIM:614607 Coffin-Siris syndrome 2
- OMIM:614608 Coffin-Siris syndrome 3
- OMIM:614609 Coffin-Siris syndrome 4
- OMIM:616938 Coffin-Siris syndrome 5
- OMIM:617808 Coffin-siris syndrome 6
- OMIM:618027 Coffin-Siris syndrome 7
- ORPHA:263508 COG1-CDG
- ORPHA:263501 COG4-CDG
- ORPHA:263487 COG5-CDG
- ORPHA:79333 COG7-CDG
- ORPHA:95428 COG8-CDG
- ORPHA:1467 Cogan syndrome
- 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:31824 Colchicine poisoning
- ORPHA:56425 Cold agglutinin disease
- OMIM:115250 Collagenoma, familial cutaneous
- OMIM:120440 Colonic varices without portal hypertension
- ORPHA:35909 Combined deficiency of factor V and factor VIII
- ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium
- ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction
- ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency
- ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency
- ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies
- ORPHA:436252 Combined immunodeficiency-enteropathy spectrum
- OMIM:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- OMIM:619120 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
- ORPHA:444013 Combined oxidative phosphorylation defect type 23
- ORPHA:565624 Combined oxidative phosphorylation defect type 39
- OMIM:614702 Combined oxidative phosphorylation deficiency 10
- OMIM:614922 Combined oxidative phosphorylation deficiency 11
- OMIM:614947 Combined oxidative phosphorylation deficiency 15
- OMIM:615395 Combined oxidative phosphorylation deficiency 16
- OMIM:615440 Combined oxidative phosphorylation deficiency 17
- OMIM:610498 Combined oxidative phosphorylation deficiency 2
- OMIM:615917 Combined oxidative phosphorylation deficiency 20
- OMIM:616045 Combined oxidative phosphorylation deficiency 22
- OMIM:616198 Combined oxidative phosphorylation deficiency 23
- OMIM:616430 Combined oxidative phosphorylation deficiency 25
- OMIM:616794 Combined oxidative phosphorylation deficiency 28
- OMIM:610505 Combined oxidative phosphorylation deficiency 3
- OMIM:616974 Combined oxidative phosphorylation deficiency 30
- OMIM:617228 Combined oxidative phosphorylation deficiency 31
- OMIM:617713 Combined oxidative phosphorylation deficiency 33
- OMIM:618329 Combined oxidative phosphorylation deficiency 37
- OMIM:618378 Combined oxidative phosphorylation deficiency 38
- OMIM:618835 Combined oxidative phosphorylation deficiency 40
- OMIM:618838 Combined oxidative phosphorylation deficiency 41
- OMIM:618839 Combined oxidative phosphorylation deficiency 42
- OMIM:618855 Combined oxidative phosphorylation deficiency 44
- OMIM:618951 Combined oxidative phosphorylation deficiency 45
- OMIM:611719 Combined oxidative phosphorylation deficiency 5
- OMIM:619386 Combined oxidative phosphorylation deficiency 52
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:614096 Combined oxidative phosphorylation deficiency 8
- OMIM:614582 Combined oxidative phosphorylation deficiency 9
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- OMIM:611721 Combined saposin deficiency
- ORPHA:1572 Common variable immunodeficiency
- OMIM:217000 Complement component 2 deficiency
- OMIM:613779 Complement component 3 deficiency, autosomal recessive
- OMIM:614380 Complement component 4A deficiency
- OMIM:610984 Complement factor I deficiency
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:1329 Complete atrioventricular septal defect
- ORPHA:83452 Complex regional pain syndrome
- OMIM:610283 Cone-Rod dystrophy 10
- OMIM:613660 Cone-rod dystrophy 15
- OMIM:614500 Cone-Rod dystrophy 16
- OMIM:619531 Cone-rod dystrophy 22
- OMIM:604116 Cone-rod dystrophy 3
- OMIM:601777 Cone-Rod dystrophy 6
- OMIM:605549 Cone-Rod dystrophy 8
- ORPHA:294975 Congenital absence of upper arm and forearm with hand present
- ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- ORPHA:79 Congenital alpha2-antiplasmin deficiency
- ORPHA:210122 Congenital alveolar capillary dysplasia
- ORPHA:3319 Congenital amegakaryocytic thrombocytopenia
- ORPHA:86816 Congenital analbuminemia
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- ORPHA:3093 Congenital aortic valve stenosis
- ORPHA:1195 Congenital atransferrinemia
- ORPHA:79301 Congenital bile acid synthesis defect type 1
- ORPHA:79302 Congenital bile acid synthesis defect type 3
- ORPHA:79095 Congenital bile acid synthesis defect type 4
- ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- ORPHA:115 Congenital contractural arachnodactyly
- ORPHA:2140 Congenital diaphragmatic hernia
- OMIM:615273 Congenital disorder of deglycosylation 1
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:602579 Congenital disorder of glycosylation, type Ib
- OMIM:608799 Congenital disorder of glycosylation, type IE
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- OMIM:608104 Congenital disorder of glycosylation, type Ih
- OMIM:607906 Congenital disorder of glycosylation, type Ii
- OMIM:212066 Congenital disorder of glycosylation, type IIa
- OMIM:608779 Congenital disorder of glycosylation, type IIe
- OMIM:603585 Congenital disorder of glycosylation, type IIf
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM:613489 Congenital disorder of glycosylation, type IIj
- OMIM:614576 Congenital disorder of glycosylation, type IIl
- OMIM:300896 Congenital disorder of glycosylation, type IIm
- OMIM:616828 Congenital disorder of glycosylation, type IIO
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- 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:614921 Congenital disorder of glycosylation, type It
- OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal dominant
- ORPHA:98870 Congenital dyserythropoietic anemia type III
- ORPHA:103910 Congenital enterocyte heparan sulfate deficiency
- ORPHA:292 Congenital enterovirus infection
- ORPHA:79277 Congenital erythropoietic porphyria
- ORPHA:325 Congenital factor II deficiency
- ORPHA:326 Congenital factor V deficiency
- ORPHA:327 Congenital factor VII deficiency
- ORPHA:328 Congenital factor X deficiency
- ORPHA:329 Congenital factor XI deficiency
- ORPHA:330 Congenital factor XII deficiency
- ORPHA:331 Congenital factor XIII deficiency
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:528 Congenital generalized lipodystrophy
- ORPHA:99095 Congenital Gerbode defect
- ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome
- OMIM:617364 Congenital heart defects and ectodermal dysplasia
- OMIM:617602 Congenital heart defects and skeletal malformations syndrome
- OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- OMIM:217085 Congenital heart defects, hamartomas of tongue, and polysyndactyly
- OMIM:614980 Congenital heart defects, multiple types, 2
- OMIM:614954 Congenital heart defects, multiple types, 3
- OMIM:615779 Congenital heart defects, multiple types, 4
- OMIM:617912 Congenital heart defects, multiple types, 5
- OMIM:613854 Congenital heart defects, multiple types, 6
- OMIM:618780 Congenital heart defects, multiple types, 7
- OMIM:619657 Congenital heart defects, multiple types, 8, with or without heterotaxy
- OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ORPHA:2185 Congenital hydrocephalus
- ORPHA:442 Congenital hypothyroidism
- ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:199296 Congenital isolated ACTH deficiency
- ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:2374 Congenital laryngeal web
- ORPHA:1055 Congenital left ventricular aneurysm
- ORPHA:1954 Congenital lethal erythroderma
- OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation
- ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement
- ORPHA:272 Congenital muscular dystrophy, Fukuyama type
- ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- OMIM:613679 Congenital prothrombin deficiency
- ORPHA:66630 Congenital pseudoarthrosis of the clavicle
- ORPHA:2414 Congenital pulmonary lymphangiectasia
- ORPHA:3189 Congenital pulmonary valvar stenosis
- ORPHA:3188 Congenital pulmonary veins atresia or stenosis
- ORPHA:290 Congenital rubella syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:99125 Congenital total pulmonary venous return anomaly
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:141127 Congenital tracheal stenosis
- ORPHA:95430 Congenital tracheomalacia
- ORPHA:95459 Congenital tricuspid stenosis
- ORPHA:555874 Congenital tricuspid valve dysplasia
- ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris
- ORPHA:216694 Congenitally corrected transposition of the great arteries
- ORPHA:860 Congenitally uncorrected transposition of the great arteries
- OMIM:217095 Conotruncal heart malformations
- OMIM:217100 Constricting bands, congenital
- OMIM:121050 Contractural arachnodactyly, congenital
- ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome
- ORPHA:1488 Cooper-Jabs syndrome
- OMIM:121300 Coproporphyria
- OMIM:122430 Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation
- 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
- ORPHA:2041 Coronary arterial fistula
- OMIM:610947 Coronary artery disease, autosomal dominant 2
- OMIM:608320 Coronary artery disease, autosomal dominant, 1
- OMIM:122455 Coronary artery dissection, spontaneous
- ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- 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
- OMIM:611489 Corticosteroid-binding globulin deficiency
- ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome
- OMIM:203400 Corticosterone methyloxidase type I deficiency
- OMIM:218040 Costello syndrome
- ORPHA:3071 Costello syndrome
- ORPHA:201 Cowden syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:615108 Cowden syndrome 5
- OMIM:615109 Cowden syndrome 6
- OMIM:616858 Cowden syndrome 7
- OMIM:122850 Cranioacrofacial syndrome
- OMIM:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:614099 Cranioectodermal dysplasia 3
- OMIM:608227 Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation
- OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- OMIM:218350 Craniofacial dyssynostosis with short stature
- OMIM:114620 Craniofaciofrontodigital syndrome
- ORPHA:363705 Craniofaciofrontodigital syndrome
- OMIM:300712 Craniofacioskeletal syndrome
- ORPHA:50814 Craniolenticulosutural dysplasia
- OMIM:607812 Craniolenticulosutural dysplasia
- ORPHA:54595 Craniopharyngioma
- OMIM:218450 Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
- OMIM:123100 Craniosynostosis 1
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- OMIM:619727 Craniotubular dysplasia, Ikegawa type
- OMIM:123450 Cri-Du-Chat syndrome
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- ORPHA:1545 Crisponi syndrome
- ORPHA:1461 Criss-cross heart
- ORPHA:2930 Cronkhite-Canada syndrome
- ORPHA:207 Crouzon syndrome
- OMIM:123500 Crouzon syndrome
- OMIM:123550 Cryoglobulinemia, familial mixed
- ORPHA:91138 Cryoglobulinemic vasculitis
- OMIM:185020 Cryohydrocytosis
- ORPHA:1546 Cryptococcosis
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- ORPHA:1552 Currarino syndrome
- OMIM:176450 Currarino syndrome
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia
- ORPHA:280779 Cutaneous collagenous vasculopathy
- ORPHA:79455 Cutaneous mastocytoma
- OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia
- ORPHA:79140 Cutaneous neuroendocrine carcinoma
- OMIM:219095 Cutaneous photosensitivity and colitis, lethal
- ORPHA:889 Cutaneous small vessel vasculitis
- OMIM:614564 Cutaneous telangiectasia and cancer syndrome, familial
- ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- OMIM:123700 Cutis laxa, autosomal dominant 1
- OMIM:614434 Cutis laxa, autosomal dominant 2
- OMIM:616603 Cutis laxa, autosomal dominant 3
- OMIM:219100 Cutis laxa, autosomal recessive, type IA
- OMIM:614437 Cutis laxa, autosomal recessive, type IB
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- OMIM:612940 Cutis laxa, autosomal recessive, type IIB
- OMIM:617402 Cutis laxa, autosomal recessive, type IIC
- OMIM:617403 Cutis laxa, autosomal recessive, type IID
- OMIM:219150 Cutis laxa, autosomal recessive, type IIIA
- OMIM:614438 Cutis laxa, autosomal recessive, type IIIB
- OMIM:614100 Cutis laxa, neonatal, with marfanoid phenotype
- ORPHA:171719 Cutis laxa-Marfanoid syndrome
- OMIM:219250 Cutis marmorata telangiectatica congenita
- ORPHA:1556 Cutis marmorata telangiectatica congenita
- ORPHA:2686 Cyclic neutropenia
- OMIM:500007 Cyclic vomiting syndrome
- ORPHA:400 Cystic echinococcosis
- OMIM:219700 Cystic fibrosis
- OMIM:219721 Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation
- ORPHA:2111 Cystic hamartoma of lung and kidney
- ORPHA:1560 Cysticercosis
- ORPHA:213 Cystinosis
- OMIM:219800 Cystinosis, nephropathic
- ORPHA:2437 Czeizel-Losonci syndrome
Code pathologie
Nom de la pathologie
- OMIM:600721 D-2-Hydroxyglutaric aciduria 1
- OMIM:613657 D-2-hydroxyglutaric aciduria 2
- OMIM:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:1563 Dahlberg-Borer-Newcomer syndrome
- OMIM:220220 Dandy-Walker malformation with postaxial polydactyly
- OMIM:300257 Danon disease
- ORPHA:2962 De Barsy syndrome
- OMIM:278800 De Sanctis-Cacchione syndrome
- OMIM:617772 Deafness, autosomal dominant 34, with or without inflammation
- OMIM:617992 Deafness, congenital heart defects, and posterior embryotoxon
- OMIM:221400 Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy
- OMIM:124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease
- ORPHA:3241 Deafness-craniofacial syndrome
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- OMIM:619004 Deeah syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:619488 DEGCAGS syndrome
- ORPHA:3202 Dehydrated hereditary stomatocytosis
- OMIM:194380 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
- OMIM:616689 Dehydrated hereditary stomatocytosis 2
- OMIM:619083 Delpire-Mcneill syndrome
- ORPHA:99828 Dengue fever
- OMIM:601216 Dental anomalies and short stature
- ORPHA:49042 Dentinogenesis imperfecta
- ORPHA:220 Denys-Drash syndrome
- OMIM:194080 Denys-Drash syndrome
- ORPHA:1656 Dermatitis herpetiformis
- OMIM:603165 Dermatitis, atopic
- ORPHA:31112 Dermatofibrosarcoma protuberans
- ORPHA:221 Dermatomyositis
- OMIM:125630 Dermodistortive urticaria
- OMIM:125635 Dermographism, familial
- ORPHA:1425 Desbuquois syndrome
- ORPHA:98909 Desminopathy
- ORPHA:873 Desmoid tumor
- ORPHA:83469 Desmoplastic small round cell tumor
- ORPHA:35107 Desmosterolosis
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:619777 Developmental and epileptic encephalopathy 100
- OMIM:619814 Developmental and epileptic encephalopathy 101
- OMIM:619881 Developmental and epileptic encephalopathy 102
- OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects
- OMIM:301058 Developmental and epileptic encephalopathy 90
- ORPHA:313892 Developmental and speech delay due to SOX5 deficiency
- OMIM:618454 Developmental delay with or without dysmorphic facies and autism
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:620062 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
- OMIM:616901 Developmental delay with short stature, dysmorphic features, and sparse hair
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:620141 Developmental delay, language impairment, and ocular abnormalities
- ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ORPHA:1666 Dextrocardia
- OMIM:221950 Dextrocardia with unusual facies and microphthalmia
- OMIM:520000 Diabetes and deafness, maternally inherited
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- ORPHA:1926 Diabetic embryopathy
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:613309 Diamond-blackfan anemia 10
- OMIM:614900 Diamond-Blackfan anemia 11
- OMIM:615550 Diamond-Blackfan anemia 12
- OMIM:617408 Diamond-Blackfan anemia 16
- OMIM:618313 Diamond-Blackfan anemia 20
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:612527 Diamond-Blackfan anemia 4
- OMIM:612528 Diamond-Blackfan anemia 5
- OMIM:612561 Diamond-Blackfan anemia 6
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:620025 Diaphragmatic hernia 4, with cardiovascular defects
- OMIM:112250 Diaphyseal medullary stenosis with malignant fibrous histiocytoma
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- ORPHA:628 Diastrophic dysplasia
- OMIM:222600 Diastrophic dysplasia
- OMIM:618846 Diets-Jongmans syndrome
- ORPHA:90060 Diffuse alveolar hemorrhage
- ORPHA:79456 Diffuse cutaneous mastocytosis
- ORPHA:220393 Diffuse cutaneous systemic sclerosis
- ORPHA:2123 Diffuse neonatal hemangiomatosis
- OMIM:188400 Digeorge syndrome
- OMIM:246900 Dihydrolipoamide dehydrogenase deficiency
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- ORPHA:227 Diphallia
- ORPHA:1681 Diprosopus
- ORPHA:2412 Dislocation of the hip-dysmorphism syndrome
- OMIM:126190 Disproportionate short stature with ptosis and valvular heart lesions
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:261337 Distal 22q11.2 microduplication syndrome
- ORPHA:254351 Distal 7q11.23 microdeletion syndrome
- ORPHA:261102 Distal 7q11.23 microduplication syndrome
- ORPHA:1580 Distal monosomy 10p
- ORPHA:96148 Distal monosomy 10q
- ORPHA:96149 Distal monosomy 12q
- ORPHA:1590 Distal monosomy 13q
- ORPHA:1596 Distal monosomy 15q
- ORPHA:1597 Distal monosomy 17q
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:1620 Distal monosomy 3p
- ORPHA:96125 Distal monosomy 6p
- ORPHA:1642 Distal monosomy 9p
- ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement
- ORPHA:488650 Distal myopathy, Tateyama type
- ORPHA:603 Distal myopathy, Welander type
- ORPHA:98911 Distal myotilinopathy
- ORPHA:399103 Distal nebulin myopathy
- 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:126320 Distichiasis with congenital anomalies of the heart and peripheral
- ORPHA:91131 DK1-CDG
- OMIM:223350 Dohle bodies and leukemia
- ORPHA:231226 Dominant beta-thalassemia
- OMIM:222448 Donnai-Barrow syndrome
- ORPHA:2143 Donnai-Barrow syndrome
- OMIM:220500 Doors syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3426 Double outlet right ventricle
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:263494 DPM3-CDG
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:90037 Drug-induced autoimmune hemolytic anemia
- ORPHA:90157 Drug-induced localized lipodystrophy
- ORPHA:231111 Drug-induced lupus erythematosus
- ORPHA:233 Duane retraction syndrome
- OMIM:607323 Duane-Radial ray syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:262 Duchenne and Becker muscular dystrophy
- OMIM:310200 Duchenne muscular dystrophy
- ORPHA:98896 Duchenne muscular dystrophy
- ORPHA:1203 Duodenal atresia
- ORPHA:100076 Duodenal neuroendocrine tumor
- ORPHA:97339 Dural sinus malformation
- OMIM:619955 Dworschak-Punetha neurodevelopmental syndrome
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- ORPHA:412 Dysbetalipoproteinemia
- ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613989 Dyskeratosis congenita, autosomal dominant 2
- OMIM:127550 Dyskeratosis congenita, autosomal dominant, 1
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- OMIM:305000 Dyskeratosis congenita, X-linked
- OMIM:127600 Dyskeratosis, hereditary benign intraepithelial
- OMIM:619647 Dyskinesia with orofacial involvement, autosomal recessive
- OMIM:606703 Dyskinesia, familial, with facial myokymia
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- ORPHA:1782 Dysosteosclerosis
- ORPHA:168621 Dysplasia of head of femur, Meyer type
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:614860 Dystonia 23
Code pathologie
Nom de la pathologie
- ORPHA:40923 Eales disease
- ORPHA:1934 Early infantile epileptic encephalopathy
- ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes
- ORPHA:556030 Early-onset familial hypoaldosteronism
- ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- ORPHA:319218 Ebola hemorrhagic fever
- OMIM:224700 Ebstein anomaly
- ORPHA:1880 Ebstein malformation of the tricuspid valve
- OMIM:601375 Ectodermal dysplasia, hidrotic, Christianson-Fourie type
- OMIM:225050 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia
- ORPHA:1806 Ectodermal dysplasia-blindness syndrome
- OMIM:613576 Ectodermal dysplasia-syndactyly syndrome 2
- ORPHA:231632 Ectopic aldosterone-producing tumor
- ORPHA:1896 EEC syndrome
- OMIM:225310 Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
- OMIM:130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
- OMIM:617821 Ehlers-Danlos syndrome, arthrochalasia type, 2
- OMIM:225320 Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
- OMIM:130010 Ehlers-Danlos syndrome, classic type, 2
- OMIM:606408 Ehlers-Danlos syndrome, classic-like
- OMIM:618000 Ehlers-Danlos syndrome, classic-like, 2
- OMIM:130020 Ehlers-danlos syndrome, Hypermobility type
- 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:617174 Ehlers-Danlos syndrome, periodontal 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
- ORPHA:97214 Eisenmenger syndrome
- OMIM:611804 Elliptocytosis 1
- ORPHA:289 Ellis Van Creveld syndrome
- OMIM:225500 Ellis-Van creveld syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- ORPHA:261 Emery-Dreifuss muscular dystrophy
- OMIM:310300 Emery-Dreifuss muscular dystrophy 1, X-linked
- OMIM:181350 Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- OMIM:616516 Emery-Dreifuss muscular dystrophy 3, autosomal recessive
- OMIM:612998 Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- OMIM:612999 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
- OMIM:614302 Emery-Dreifuss muscular dystrophy 7, autosomal dominant
- ORPHA:83600 Encephalitis lethargica
- ORPHA:2396 Encephalocraniocutaneous lipomatosis
- OMIM:613001 Encephalocraniocutaneous lipomatosis
- ORPHA:139406 Encephalopathy due to prosaposin deficiency
- OMIM:225740 Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
- OMIM:602473 Encephalopathy, ethylmalonic
- OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
- OMIM:166000 Enchondromatosis, multiple
- ORPHA:2022 Endocardial fibroelastosis
- OMIM:226100 Endocardial fibroelastosis and coarctation of abdominal aorta
- ORPHA:1937 Eng-Strom syndrome
- ORPHA:60015 Enlarged parietal foramina
- ORPHA:83620 Enteric anendocrinosis
- OMIM:226150 ENTEROCOLITIS
- OMIM:600351 Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
- ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis
- OMIM:131400 Eosinophilia, familial
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- OMIM:131430 EOSINOPHILOPENIA
- ORPHA:35125 Epidermal nevus syndrome
- ORPHA:302 Epidermodysplasia verruciformis
- OMIM:618307 Epidermodysplasia verruciformis, susceptibility to, 4
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- OMIM:609352 Epidermolysis bullosa simplex 2E, with migratory circinate erythema
- ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema
- OMIM:131950 Epidermolysis bullosa simplex, Ogna type
- OMIM:618832 Epilepsy, early-onset, with or without developmental delay
- OMIM:619521 Epilepsy, idiopathic generalized, susceptibility to, 18
- OMIM:226850 EPILEPSY-TELANGIECTASIA
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- OMIM:616647 Epileptic encephalopathy, early infantile, 35
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:618067 Epileptic encephalopathy, early infantile, 66
- OMIM:618437 Epileptic encephalopathy, early infantile, 75
- ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome
- ORPHA:293381 Epithelial recurrent erosion dystrophy
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:222 Erosive pustular dermatosis of the scalp
- ORPHA:90000 Erythema elevatum diutinum
- OMIM:132990 Erythema nodosum, familial
- OMIM:227000 Erythema of acral regions
- OMIM:133000 Erythema palmare hereditarium
- OMIM:133020 Erythermalgia, primary
- OMIM:133100 Erythrocytosis, familial, 1
- OMIM:263400 Erythrocytosis, familial, 2
- OMIM:222800 Erythrocytosis, familial, 8
- OMIM:615508 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:617524 Erythrokeratodermia variabilis et progressiva 2
- OMIM:617525 Erythrokeratodermia variabilis et progressiva 3
- OMIM:617526 Erythrokeratodermia variabilis et progressiva 4
- OMIM:618531 Erythrokeratodermia veriabilis et progressiva 6
- OMIM:133180 Erythroleukemia, familial, susceptibility to
- ORPHA:1199 Esophageal atresia
- ORPHA:3318 Essential thrombocythemia
- ORPHA:785 Estrogen resistance syndrome
- OMIM:227150 Ethanolaminosis
- ORPHA:31826 Ethylene glycol poisoning
- ORPHA:51188 Ethylmalonic encephalopathy
- ORPHA:1959 Evans syndrome
- OMIM:616854 Even-Plus syndrome
- ORPHA:466650 Exercise-induced malignant hyperthermia
- OMIM:177650 Exfoliation syndrome
- OMIM:612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis
- ORPHA:322 Exstrophy-epispadias complex
- ORPHA:494424 Extracranial carotid artery aneurysm
- OMIM:133750 Extrasystoles, multiform ventricular, with short stature, hyperpigmentationand microcephaly
- ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- OMIM:133780 Exudative vitreoretinopathy 1
- OMIM:305390 Exudative vitreoretinopathy 2, X-linked
- OMIM:601813 Exudative vitreoretinopathy 4
- ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:227255 Facial dysmorphism with multiple malformations
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- 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
- OMIM:227270 Faciocardiomelic dysplasia, lethal
- OMIM:612731 Faciocardiomelic syndrome
- ORPHA:1973 Faciocardiorenal syndrome
- OMIM:227280 Faciocardiorenal syndrome
- ORPHA:269 Facioscapulohumeral dystrophy
- OMIM:158900 Facioscapulohumeral muscular dystrophy 1
- OMIM:227400 Factor V deficiency
- OMIM:134400 Factor V excess with spontaneous thrombosis
- OMIM:134430 Factor VII and factor VIII, combined deficiency of
- OMIM:227500 Factor VII deficiency
- OMIM:227600 Factor X deficiency
- OMIM:613225 Factor XIII, A subunit, deficiency of
- OMIM:613235 Factor XIIIB deficiency
- OMIM:134520 Factors VIII, IX and XI, combined deficiency of
- ORPHA:306550 FADD-related immunodeficiency
- OMIM:601127 Fallot complex with severe mental and growth retardation
- ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome
- ORPHA:88619 Familial acute necrotizing encephalopathy
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- ORPHA:98880 Familial afibrinogenemia
- ORPHA:229 Familial aortic dissection
- OMIM:620058 Familial apolipoprotein gene cluster deletion syndrome
- ORPHA:615 Familial atrial myxoma
- ORPHA:2841 Familial benign chronic pemphigus
- ORPHA:402075 Familial bicuspid aortic valve
- ORPHA:221061 Familial cerebral cavernous malformation
- ORPHA:231160 Familial cerebral saccular aneurysm
- ORPHA:36382 Familial cervical artery dissection
- ORPHA:444490 Familial chylomicronemia syndrome
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- OMIM:614468 Familial cold autoinflammatory syndrome 3
- OMIM:616115 Familial cold autoinflammatory syndrome 4
- OMIM:120100 Familial cold inflammatory syndrome 1
- ORPHA:47045 Familial cold urticaria
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:53296 Familial cutaneous collagenoma
- ORPHA:211 Familial cylindromatosis
- ORPHA:217607 Familial dilated cardiomyopathy
- ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- ORPHA:75376 Familial drusen
- ORPHA:1764 Familial dysautonomia
- ORPHA:98881 Familial dysfibrinogenemia
- ORPHA:324588 Familial dyskinesia and facial myokymia
- ORPHA:891 Familial exudative vitreoretinopathy
- ORPHA:361 Familial glucocorticoid deficiency
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis
- ORPHA:403 Familial hyperaldosteronism type I
- ORPHA:404 Familial hyperaldosteronism type II
- ORPHA:251274 Familial hyperaldosteronism type III
- ORPHA:427 Familial hypoaldosteronism
- ORPHA:101041 Familial hypofibrinogenemia
- ORPHA:1677 Familial idiopathic dilatation of the right atrium
- ORPHA:154 Familial isolated dilated cardiomyopathy
- ORPHA:2238 Familial isolated hypoparathyroidism
- ORPHA:75249 Familial isolated restrictive cardiomyopathy
- ORPHA:342 Familial Mediterranean fever
- OMIM:249100 Familial Mediterranean fever, AR
- ORPHA:618 Familial melanoma
- ORPHA:199276 Familial multiple lipomatosis
- ORPHA:624 Familial multiple nevi flammei
- ORPHA:867 Familial multiple trichoepithelioma
- ORPHA:2769 Familial osteodysplasia, Anderson type
- ORPHA:1333 Familial pancreatic carcinoma
- ORPHA:319487 Familial papillary or follicular thyroid carcinoma
- ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia
- ORPHA:2348 Familial partial lipodystrophy, Dunnigan type
- ORPHA:79084 Familial partial lipodystrophy, Köbberling type
- ORPHA:871 Familial progressive cardiac conduction defect
- ORPHA:90044 Familial pseudohyperkalemia
- ORPHA:51083 Familial short QT syndrome
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:71493 Familial thrombocytosis
- ORPHA:95716 Familial thyroid dyshormonogenesis
- ORPHA:53715 Familial tumoral calcinosis
- ORPHA:2604 Familial visceral myopathy
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:227645 Fanconi anemia, complementation group C
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:600901 Fanconi anemia, complementation group E
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:609053 Fanconi anemia, complementation group I
- OMIM:610832 Fanconi anemia, complementation group N
- OMIM:613390 Fanconi anemia, complementation group O
- OMIM:615272 Fanconi anemia, complementation group Q
- OMIM:617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U
- OMIM:617784 Fanconi anemia, complementation group W
- OMIM:618913 Fanconi renotubular syndrome 5
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:2492 FATCO syndrome
- OMIM:153640 Fechtner syndrome
- ORPHA:1305 Feingold syndrome
- OMIM:164280 Feingold syndrome 1
- OMIM:614326 Feingold syndrome 2
- ORPHA:391641 Feingold syndrome type 1
- ORPHA:391646 Feingold syndrome type 2
- OMIM:134750 Felty syndrome
- ORPHA:47612 Felty syndrome
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- OMIM:619699 Ferguson-Bonni neurodevelopmental syndrome
- ORPHA:1915 Fetal alcohol syndrome
- ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia
- ORPHA:294 Fetal cytomegalovirus syndrome
- OMIM:613630 Fetal encasement syndrome
- ORPHA:85212 Fetal Gaucher disease
- ORPHA:1912 Fetal hydantoin syndrome
- ORPHA:1918 Fetal minoxidil syndrome
- ORPHA:295 Fetal parvovirus syndrome
- ORPHA:1913 Fetal trimethadione syndrome
- ORPHA:93932 FG syndrome type 1
- ORPHA:313855 FGFR2-related bent bone dysplasia
- OMIM:134900 Fibrinolytic defect
- OMIM:228520 Fibrochondrogenesis 1
- OMIM:135580 Fibromuscular dysplasia of arteries
- OMIM:619329 Fibromuscular dysplasia, multifocal
- ORPHA:84090 Fibronectin glomerulopathy
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- ORPHA:93323 Fibular hemimelia
- ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome
- OMIM:228940 Fibuloulnar aplasia or hypoplasia with renal abnormalities
- OMIM:272440 Filippi syndrome
- ORPHA:3255 Filippi syndrome
- ORPHA:399086 Finnish upper limb-onset distal myopathy
- ORPHA:79292 Fish-eye disease
- ORPHA:293812 Fixed drug eruption
- ORPHA:3092 Fixed subaortic stenosis
- ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9
- ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:2047 Flynn-Aird syndrome
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- ORPHA:398189 Focal facial dermal dysplasia type IV
- OMIM:603278 Focal segmental glomerulosclerosis 1
- OMIM:603965 Focal segmental glomerulosclerosis 2
- OMIM:607832 Focal segmental glomerulosclerosis 3, susceptibility to
- ORPHA:79093 Foix-Alajouanine syndrome
- ORPHA:545 Follicular lymphoma
- OMIM:612289 Fontaine progeroid syndrome
- ORPHA:228371 Foodborne botulism
- ORPHA:51208 Formiminoglutamic aciduria
- ORPHA:3219 Fountain syndrome
- ORPHA:137834 Frank-Ter Haar syndrome
- OMIM:249420 Frank-ter Haar syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- ORPHA:347 Frasier syndrome
- ORPHA:834 Free sialic acid storage disease
- ORPHA:1826 Frontometaphyseal dysplasia
- OMIM:305620 Frontometaphyseal dysplasia
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:136760 Frontonasal dysplasia 1
- ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- OMIM:605321 Frontoocular syndrome
- OMIM:229600 Fructose intolerance, hereditary
- OMIM:229700 Fructose-1,6-Bisphosphatase deficiency
- ORPHA:348 Fructose-1,6-bisphosphatase deficiency
- OMIM:229850 Fryns syndrome
- ORPHA:2059 Fryns syndrome
- OMIM:230000 FUCOSIDOSIS
- ORPHA:349 Fucosidosis
- 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:90041 Gaisböck syndrome
- ORPHA:79237 Galactokinase deficiency
- ORPHA:79238 Galactose epimerase deficiency
- OMIM:230350 Galactose epimerase deficiency
- ORPHA:351 Galactosialidosis
- OMIM:256540 Galactosialidosis
- ORPHA:100086 Gallbladder neuroendocrine tumor
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:618348 Galloway-Mowat syndrome 7
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- ORPHA:251992 Ganglioneuroma
- OMIM:230740 Gapo syndrome
- ORPHA:2067 GAPO syndrome
- OMIM:619182 Gastric adenocarcinoma and proximal polyposis of the stomach
- OMIM:137280 Gastritis, familial giant hypertrophic
- ORPHA:2069 Gastrocutaneous syndrome
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- OMIM:606764 Gastrointestinal stromal tumor
- ORPHA:44890 Gastrointestinal stromal tumor
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- 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
- ORPHA:438274 GCGR-related hyperglucagonemia
- OMIM:231050 Geleophysic dysplasia 1
- OMIM:614185 Geleophysic dysplasia 2
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:157991 Generalized eruptive histiocytosis
- ORPHA:411777 Generalized eruptive keratoacanthoma
- ORPHA:786 Generalized glucocorticoid resistance syndrome
- ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli
- ORPHA:171876 Generalized pseudohypoaldosteronism type 1
- ORPHA:99845 Genetic recurrent myoglobinuria
- ORPHA:2075 Genitopalatocardiac syndrome
- OMIM:231060 Genitopalatocardiac syndrome
- ORPHA:85201 Genitopatellar syndrome
- OMIM:606170 Genitopatellar syndrome
- OMIM:231080 German syndrome
- ORPHA:2077 German syndrome
- ORPHA:1802 Ghosal hematodiaphyseal dysplasia
- OMIM:610100 Giant axonal neuropathy, autosomal dominant
- ORPHA:397 Giant cell arteritis
- OMIM:137560 Giant platelet syndrome with thrombocytopenia
- OMIM:206700 Gillespie syndrome
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- ORPHA:568051 GJC2-related late-onset primary lymphedema
- OMIM:273800 Glanzmann thrombasthenia
- ORPHA:849 Glanzmann thrombasthenia
- OMIM:619267 Glanzmann thrombasthenia 2
- OMIM:137750 Glaucoma 1, open angle, A
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome
- OMIM:137950 Glomerulopathy with fibronectin deposits 1
- OMIM:601894 Glomerulopathy with fibronectin deposits 2
- OMIM:613237 Glomerulosclerosis, focal segmental, 5
- ORPHA:83454 Glomuvenous malformation
- ORPHA:221098 Glossopharyngeal neuralgia
- ORPHA:97280 Glucagonoma
- OMIM:615962 Glucocorticoid resistance, generalized
- OMIM:612126 Glut1 deficiency syndrome 2
- OMIM:231630 Glutamate monosodium sensitivity
- ORPHA:33574 Glutamate-cysteine ligase deficiency
- OMIM:610015 Glutamine deficiency, congenital
- OMIM:231690 Glutaric aciduria III
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- OMIM:611556 Glycogen storage disease 0, muscle
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset
- ORPHA:57 Glycogen storage disease due to aldolase A deficiency
- ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency
- ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency
- ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency
- ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
- ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency
- OMIM:232200 Glycogen storage disease Ia
- OMIM:232220 Glycogen storage disease Ib
- OMIM:232240 Glycogen storage disease Ic
- OMIM:232300 Glycogen storage disease II
- OMIM:232400 Glycogen storage disease III
- OMIM:232500 Glycogen storage disease IV
- OMIM:613027 Glycogen storage disease IXc
- OMIM:261740 Glycogen storage disease of heart, lethal congenital
- OMIM:261750 Glycogen storage disease type IXb
- ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- OMIM:611881 Glycogen storage disease XII
- OMIM:613507 Glycogen storage disease XV
- OMIM:306000 Glycogen storage disease, type IXa1
- OMIM:232900 Glycoprotein storage disease
- OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18
- OMIM:610293 Glycosylphosphatidylinositol deficiency
- 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
- 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:602 GNE myopathy
- OMIM:609460 Goldberg-Shprintzen syndrome
- OMIM:233270 Gombo syndrome
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- ORPHA:169105 Good syndrome
- OMIM:233450 Goodpasture syndrome
- ORPHA:73 Gorham-Stout disease
- ORPHA:2095 Gorlin-Chaudhry-Moss syndrome
- OMIM:602361 Gracile bone dysplasia
- ORPHA:39812 Graft versus host disease
- OMIM:602531 Grange syndrome
- ORPHA:79094 Grange syndrome
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
- OMIM:233710 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II
- ORPHA:33111 Granulomatous slack skin
- OMIM:275000 Graves disease
- ORPHA:721 Gray platelet syndrome
- OMIM:139090 Gray platelet syndrome
- OMIM:215140 Greenberg skeletal dysplasia
- OMIM:175700 Greig cephalopolysyndactyly syndrome
- ORPHA:97261 GRFoma
- ORPHA:381 Griscelli syndrome
- ORPHA:79477 Griscelli syndrome type 2
- OMIM:214450 Griscelli syndrome, type 1
- OMIM:607624 Griscelli syndrome, type 2
- ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- OMIM:612938 Growth retardation, developmental delay, coarse facies, and earlydeath
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- OMIM:612946 Hadziselimovic syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:611174 Hamamy syndrome
- ORPHA:93946 Hamel cerebro-palato-cardiac syndrome
- ORPHA:73229 HANAC syndrome
- ORPHA:2438 Hand-foot-genital syndrome
- OMIM:618892 Harderoporphyria
- OMIM:301068 Hardikar syndrome
- OMIM:617183 Harel-Yoon syndrome
- ORPHA:457 Harlequin ichthyosis
- OMIM:601095 Harrod syndrome
- ORPHA:163596 Hb Bart's hydrops fetalis
- OMIM:604091 HDL deficiency, familial, 1
- OMIM:616920 Heart and brain malformation syndrome
- OMIM:234700 Heart block, congenital
- ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome
- ORPHA:1354 Heart defects-limb shortening syndrome
- OMIM:140500 Heart, malformation of
- ORPHA:1350 Heart-hand syndrome type 2
- OMIM:610140 Heart-hand syndrome, Slovenian type
- ORPHA:168796 Heart-hand syndrome, Slovenian type
- OMIM:140450 Heart-hand syndrome, Spanish type
- ORPHA:2119 HEC syndrome
- ORPHA:244242 HELLP syndrome
- OMIM:615873 Helsmoortel-van der Aa syndrome
- ORPHA:252054 Hemangioblastoma
- OMIM:602089 Hemangioma, capillary infantile
- OMIM:141000 Hemangioma-Thrombocytopenia syndrome
- OMIM:140900 Hemangiomas of small intestine
- OMIM:140850 Hemangiomas, cavernous, of face and supraumbilical midline raphe
- OMIM:234820 Hemangiopericytoma, malignant
- OMIM:614034 Heme oxygenase-1 deficiency
- OMIM:164210 Hemifacial microsomia
- ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome
- ORPHA:79230 Hemochromatosis type 2
- OMIM:235200 Hemochromatosis, type 1
- OMIM:602390 Hemochromatosis, type 2A
- OMIM:613313 Hemochromatosis, type 2B
- OMIM:604250 Hemochromatosis, type 3
- OMIM:606069 Hemochromatosis, type 4
- ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome
- ORPHA:90039 Hemoglobin D disease
- ORPHA:2133 Hemoglobin E disease
- OMIM:613978 Hemoglobin H disease
- ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency
- OMIM:300908 Hemolytic anemia, G6PD deficient (favism)
- OMIM:613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency
- OMIM:235700 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
- OMIM:619462 Hemolytic disease of fetus and newborn, RH-induced
- OMIM:235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1
- OMIM:612922 Hemolytic uremic syndrome, atypical, susceptibility to, 2
- OMIM:612923 Hemolytic uremic syndrome, atypical, susceptibility to, 3
- OMIM:612924 Hemolytic uremic syndrome, atypical, susceptibility to, 4
- OMIM:612925 Hemolytic uremic syndrome, atypical, susceptibility to, 5
- OMIM:612926 Hemolytic uremic syndrome, atypical, susceptibility to, 6
- OMIM:267700 Hemophagocytic lymphohistiocytosis, familial, 1
- OMIM:603553 Hemophagocytic lymphohistiocytosis, familial, 2
- OMIM:608898 Hemophagocytic lymphohistiocytosis, familial, 3
- OMIM:603552 Hemophagocytic lymphohistiocytosis, familial, 4
- OMIM:613101 Hemophagocytic lymphohistiocytosis, familial, 5
- ORPHA:158048 Hemophagocytic syndrome associated with an infection
- 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
- ORPHA:2136 Hennekam syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- OMIM:612356 Heparin cofactor II deficiency
- ORPHA:3325 Heparin-induced thrombocytopenia
- OMIM:614025 Hepatic lipase deficiency
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- OMIM:235550 Hepatic venoocclusive disease with immunodeficiency
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:95159 Hepatoerythropoietic porphyria
- ORPHA:64743 Hepatoportal sclerosis
- OMIM:619902 Hepatorenocardiac degenerative fibrosis
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:85450 Hereditary amyloidosis with primary renal involvement
- ORPHA:100050 Hereditary angioedema type 1
- ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome
- ORPHA:1867 Hereditary bullous dystrophy, macular type
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:288 Hereditary elliptocytosis
- ORPHA:774 Hereditary hemorrhagic telangiectasia
- ORPHA:411602 Hereditary late-onset Parkinson disease
- ORPHA:157794 Hereditary mixed polyposis syndrome
- ORPHA:1062 Hereditary neurocutaneous malformation
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:158025 Hereditary progressive mucinous histiocytosis
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:822 Hereditary spherocytosis
- 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:306955 Heterotaxy, visceral, 1, X-linked
- OMIM:619607 Heterotaxy, visceral, 10, autosomal, with male infertility
- OMIM:619608 Heterotaxy, visceral, 11, autosomal, with male infertility
- OMIM:619702 Heterotaxy, visceral, 12, autosomal
- OMIM:605376 Heterotaxy, visceral, 2, autosomal
- OMIM:613751 Heterotaxy, visceral, 4, autosomal
- OMIM:270100 Heterotaxy, visceral, 5
- OMIM:614779 Heterotaxy, visceral, 6, autosomal
- OMIM:616749 Heterotaxy, visceral, 7, autosomal
- OMIM:617205 Heterotaxy, visceral, 8, autosomal
- OMIM:618948 Heterotaxy, visceral, 9, autosomal, with male infertility
- OMIM:300049 Heterotopia, periventricular, X-linked dominant
- ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type
- OMIM:235750 Hirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect
- OMIM:613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction
- ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome
- ORPHA:3283 His bundle tachycardia
- ORPHA:137675 Histiocytoid cardiomyopathy
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:98293 Hodgkin lymphoma
- ORPHA:79242 Holocarboxylase synthetase deficiency
- ORPHA:2162 Holoprosencephaly
- OMIM:236100 Holoprosencephaly 1
- OMIM:614226 Holoprosencephaly 11
- OMIM:301043 Holoprosencephaly 13, X-linked
- OMIM:619895 Holoprosencephaly 14
- OMIM:157170 Holoprosencephaly 2
- ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome
- OMIM:142900 Holt-Oram syndrome
- ORPHA:392 Holt-Oram syndrome
- ORPHA:2167 Holzgreve syndrome
- OMIM:236110 Holzgreve syndrome
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:391665 Homozygous familial hypercholesterolemia
- ORPHA:391428 HSD10 disease, infantile type
- ORPHA:391457 HSD10 disease, neonatal type
- OMIM:300438 HSD10 mitochondrial disease
- ORPHA:228116 Hughes-Stovin syndrome
- ORPHA:3266 Humero-radio-ulnar synostosis
- OMIM:611962 Hunter-Macdonald syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:93476 Hurler-Scheie syndrome
- OMIM:176670 Hutchinson-Gilford progeria syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- ORPHA:2177 Hydranencephaly
- OMIM:600559 Hydrocephalus, endocardial fibroelastosis, and cataracts
- ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome
- ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome
- ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome
- ORPHA:2189 Hydrolethalus
- OMIM:236680 Hydrolethalus syndrome 1
- ORPHA:1041 Hydrops fetalis
- OMIM:236750 Hydrops fetalis, nonimmune
- OMIM:617021 Hydrops, lactic acidosis, and sideroblastic anemia
- ORPHA:79155 Hydroxykynureninuria
- OMIM:260920 Hyper-Igd syndrome
- OMIM:147060 Hyper-IgE recurrent infection syndrome
- OMIM:618282 Hyper-IgE recurrent infection syndrome 3, autosomal recessive
- OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive
- OMIM:605635 Hyperaldosteronism, familial, type II
- OMIM:613677 Hyperaldosteronism, familial, type III
- OMIM:617027 Hyperaldosteronism, familial, type IV
- ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency
- OMIM:237800 Hyperbilirubinemia, shunt, primary
- OMIM:143880 Hypercalcemia, infantile, 1
- ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- OMIM:603813 Hypercholesterolemia, autosomal recessive
- OMIM:143890 Hypercholesterolemia, familial, 1
- OMIM:144010 Hypercholesterolemia, familial, 2
- OMIM:614618 Hyperekplexia 3
- OMIM:607685 Hypereosinophilic syndrome, idiopathic
- OMIM:614462 Hyperglycinemia, lactic acidosis, and seizures
- ORPHA:343 Hyperimmunoglobulinemia D with periodic fever
- ORPHA:324575 Hyperinsulinism due to HNF1A deficiency
- ORPHA:263455 Hyperinsulinism due to HNF4A deficiency
- ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- ORPHA:276556 Hyperinsulinism due to UCP2 deficiency
- ORPHA:682 Hyperkalemic periodic paralysis
- ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
- OMIM:144250 Hyperlipidemia, familial combined, 3
- OMIM:615947 Hyperlipoproteinemia, type ID
- OMIM:144300 Hyperlipoproteinemia, type II, and deafness
- OMIM:144600 Hyperlipoproteinemia, type IV
- ORPHA:2203 Hyperlysinemia
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- OMIM:613752 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- OMIM:259900 Hyperoxaluria, primary, type I
- OMIM:239200 Hyperparathyroidism, neonatal severe
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome
- OMIM:239300 Hyperphosphatasia with mental retardation
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
- OMIM:239800 Hypertelorism, microtia, facial clefting syndrome
- OMIM:112410 Hypertension and brachydactyly syndrome
- OMIM:605115 Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy
- OMIM:145500 Hypertension, essential
- OMIM:603373 Hyperthyroidism, familial gestational
- OMIM:609152 Hyperthyroidism, nonautoimmune
- OMIM:239850 Hypertrichotic osteochondrodysplasia
- OMIM:145750 Hypertriglyceridemia, familial
- OMIM:614480 Hypertriglyceridemia, transient infantile
- OMIM:259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- OMIM:601979 Hyperzincemia with functional zinc depletion
- OMIM:240200 Hypoadrenocorticism, familial
- OMIM:610600 Hypoaldosteronism, congenital, due to CMO II deficiency
- OMIM:618463 Hypoalphalipoproteinemia, primary, 2
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- OMIM:612776 Hypoglossia with situs inversus
- ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- ORPHA:238468 Hypohidrotic ectodermal dysplasia
- ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy
- ORPHA:681 Hypokalemic periodic paralysis
- OMIM:241310 Hypomandibular faciocranial dysostosis
- ORPHA:1790 Hypomandibular faciocranial dysostosis
- OMIM:615281 Hypomyelination with brainstem and spinal cord involvement and legspasticity
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- OMIM:241500 Hypophosphatasia, infantile
- ORPHA:437 Hypophosphatemic rickets
- OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2
- OMIM:618541 Hypopigmentation, organomegaly, and delayed myelination and development
- ORPHA:2248 Hypoplastic left heart syndrome
- OMIM:241550 Hypoplastic left heart syndrome
- OMIM:614435 Hypoplastic left heart syndrome 2
- OMIM:145350 Hypotaurinemic retinal degeneration and cardiomyopathy
- OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- ORPHA:90673 Hypothyroidism due to TSH receptor mutations
- OMIM:218700 Hypothyroidism, congenital, nongoitrous, 2
- OMIM:616816 Hypotonia, infantile, with psychomotor retardation
- OMIM:607903 Hypotrichosis 6
- OMIM:613102 Hypotrichosis and recurrent skin vesicles
- OMIM:607823 Hypotrichosis-Lymphedema-Telangiectasia syndrome
- ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- OMIM:137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome
Code pathologie
Nom de la pathologie
- ORPHA:254509 Iatrogenic botulism
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:608649 Ichthyosis prematurity syndrome
- OMIM:617571 Ichthyosis, congenital, autosomal recessive 14
- OMIM:242100 Ichthyosis, congenital, autosomal recessive 2
- OMIM:606545 Ichthyosis, congenital, autosomal recessive 3
- OMIM:601277 Ichthyosis, congenital, autosomal recessive 4A
- OMIM:613943 Ichthyosis, congenital, autosomal recessive 8
- OMIM:607602 Ichthyosis, cyclic, with epidermolytic hyperkeratosis
- OMIM:619016 Ichthyosis, follicular, with atrichia and photophobia syndrome 2
- OMIM:242520 Ichthyosis, hepatosplenomegaly, and cerebellar degeneration
- OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation
- ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- ORPHA:280914 Idiopathic anterior uveitis
- ORPHA:88 Idiopathic aplastic anemia
- ORPHA:60033 Idiopathic bronchiectasis
- ORPHA:95717 Idiopathic congenital hypothyroidism
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:90158 Idiopathic localized lipodystrophy
- ORPHA:45452 Idiopathic neonatal atrial flutter
- ORPHA:567544 Idiopathic non-lupus full-house nephropathy
- ORPHA:280921 Idiopathic panuveitis
- ORPHA:275766 Idiopathic pulmonary arterial hypertension
- ORPHA:2032 Idiopathic pulmonary fibrosis
- ORPHA:99931 Idiopathic pulmonary hemosiderosis
- ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome
- ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- ORPHA:209956 Idiopathic uveal effusion syndrome
- ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- OMIM:161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1
- OMIM:613944 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2
- OMIM:616818 Iga nephropathy, susceptibility to, 3
- ORPHA:449400 IgG4-related aortitis
- ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:449427 IgG4-related pachymeningitis
- ORPHA:49041 IgG4-related retroperitoneal fibrosis
- ORPHA:449432 IgG4-related submandibular gland disease
- ORPHA:100078 Ileal neuroendocrine tumor
- ORPHA:35858 Imerslund-Gräsbeck syndrome
- OMIM:242700 Immune defect due to absence of thymus
- ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- ORPHA:3002 Immune thrombocytopenia
- ORPHA:206569 Immune-mediated necrotizing myopathy
- OMIM:612783 Immunodeficiency 10
- OMIM:619872 Immunodeficiency 101 (varicella zoster virus-specific)
- OMIM:619924 Immunodeficiency 105, severe combined
- OMIM:615513 Immunodeficiency 14
- OMIM:615593 Immunodeficiency 16
- OMIM:615816 Immunodeficiency 23
- OMIM:209950 Immunodeficiency 27A, mycobacteriosis, AR
- OMIM:615978 Immunodeficiency 27B
- OMIM:614162 Immunodeficiency 31C
- OMIM:614893 Immunodeficiency 32A
- OMIM:226990 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
- OMIM:616005 Immunodeficiency 36
- OMIM:616126 Immunodeficiency 38 with basal ganglia calcification
- OMIM:606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity
- OMIM:616622 Immunodeficiency 42
- OMIM:616740 Immunodeficiency 46
- OMIM:300972 Immunodeficiency 47
- OMIM:269840 Immunodeficiency 48
- OMIM:617237 Immunodeficiency 49
- OMIM:617514 Immunodeficiency 52
- OMIM:609981 Immunodeficiency 54
- OMIM:617827 Immunodeficiency 55
- OMIM:618131 Immunodeficiency 58
- OMIM:233600 Immunodeficiency 59 and hypoglycemia
- OMIM:618394 Immunodeficiency 60
- OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity
- OMIM:618534 Immunodeficiency 64
- OMIM:612260 Immunodeficiency 68
- OMIM:618963 Immunodeficiency 69, mycobacteriosis
- OMIM:618969 Immunodeficiency 70
- OMIM:617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
- OMIM:618982 Immunodeficiency 72 with autoinflammation
- OMIM:618986 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
- OMIM:618987 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
- OMIM:619126 Immunodeficiency 75
- OMIM:619164 Immunodeficiency 76
- OMIM:619223 Immunodeficiency 77
- OMIM:619220 Immunodeficiency 78 with autoimmunity and developmental delay
- OMIM:619313 Immunodeficiency 80 with or without cardiomyopathy
- OMIM:619374 Immunodeficiency 81
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619437 Immunodeficiency 84
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:619644 Immunodeficiency 91 and hyperinflammation
- OMIM:619705 Immunodeficiency 93 and hypertrophic cardiomyopathy
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:619774 Immunodeficiency 96
- OMIM:619802 Immunodeficiency 97 with autoinflammation
- OMIM:301078 Immunodeficiency 98 with autoinflammation, X-linked
- OMIM:619846 Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- OMIM:608106 Immunodeficiency with hyper IgM, type 5
- OMIM:605258 Immunodeficiency with hyper-igm, type 2
- OMIM:606843 Immunodeficiency with hyper-igm, type 3
- OMIM:608184 Immunodeficiency with hyper-IgM, type 4
- OMIM:607594 Immunodeficiency, common variable, 1
- OMIM:240500 Immunodeficiency, common variable, 2
- OMIM:613493 Immunodeficiency, common variable, 3
- OMIM:613496 Immunodeficiency, common variable, 6
- OMIM:614699 Immunodeficiency, common variable, 7
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:617744 Immunodeficiency, developmental delay, and hypohomocysteinemia
- OMIM:611926 Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis
- OMIM:308230 Immunodeficiency, X-linked, with hyper-IgM
- OMIM:300853 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
- OMIM:304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
- ORPHA:761 Immunoglobulin A vasculitis
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- ORPHA:45453 Incessant infant ventricular tachycardia
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- OMIM:308300 Incontinentia pigmenti
- ORPHA:464 Incontinentia pigmenti
- ORPHA:98848 Indolent systemic mastocytosis
- ORPHA:1909 Indomethacin embryofetopathy
- ORPHA:70587 Infant acute respiratory distress syndrome
- ORPHA:178478 Infant botulism
- ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- ORPHA:206436 Infantile Krabbe disease
- OMIM:616483 Infantile liver failure syndrome 2
- OMIM:618641 Infantile liver failure syndrome 3
- ORPHA:772 Infantile Refsum disease
- OMIM:269920 Infantile sialic acid storage disease
- ORPHA:3173 Infantile spasms-broad thumbs syndrome
- ORPHA:2176 Infantile systemic hyalinosis
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:544482 Infection-related hemolytic uremic syndrome
- OMIM:613759 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
- OMIM:191390 Inflammatory bowel disease 11
- OMIM:613148 Inflammatory bowel disease 28, early onset, autosomal recessive
- OMIM:614328 Inflammatory skin and bowel disease, neonatal, 1
- OMIM:616069 Inflammatory skin and bowel disease, neonatal, 2
- ORPHA:247257 Inhalational anthrax
- ORPHA:282166 Inherited Creutzfeldt-Jakob disease
- ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- ORPHA:63259 Iniencephaly
- OMIM:256800 Insensitivity to pain, congenital, with anhidrosis
- OMIM:270450 Insulin-Like growth factor I, resistance to
- ORPHA:97279 Insulinoma
- OMIM:619326 Intellectual developmental disorder and hypogonadotropic hypogonadism
- OMIM:618195 Intellectual developmental disorder and retinitis pigmentosa
- OMIM:617173 Intellectual developmental disorder with cardiac arrhythmia
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- OMIM:617452 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
- OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
- OMIM:618748 Intellectual developmental disorder with hypotonia and behavioral abnormalities
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:618453 Intellectual developmental disorder with short stature and variable skeletal anomalies
- OMIM:615502 Intellectual developmental disorder, autosomal dominant 21
- OMIM:616977 Intellectual developmental disorder, autosomal dominant 43
- OMIM:617600 Intellectual developmental disorder, autosomal dominant 45
- OMIM:617751 Intellectual developmental disorder, autosomal dominant 48
- OMIM:617788 Intellectual developmental disorder, autosomal dominant 51
- OMIM:617798 Intellectual developmental disorder, autosomal dominant 53
- OMIM:619910 Intellectual developmental disorder, autosomal dominant 66
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:615637 Intellectual developmental disorder, autosomal recessive 41
- OMIM:618109 Intellectual developmental disorder, autosomal recessive 65
- OMIM:618504 Intellectual developmental disorder, autosomal recessive 71
- OMIM:618665 Intellectual developmental disorder, autosomal recessive 72
- OMIM:619717 Intellectual developmental disorder, autosomal recessive 73
- OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type
- OMIM:301039 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- OMIM:619719 Intellectual disability and myopathy syndrome
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:3079 Intellectual disability, Buenos-Aires type
- ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome
- ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- ORPHA: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
- ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect 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:363528 Intellectual disability-strabismus syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- ORPHA:171433 Intermediate nemaline myopathy
- ORPHA:210110 Intermediate osteopetrosis
- ORPHA:279914 Intermediate uveitis
- ORPHA:981 Internal carotid absence
- OMIM:243100 Internal carotid arteries, hypoplasia of
- OMIM:147820 Internal carotid artery, spontaneous dissection of
- ORPHA:79099 Interstitial granulomatous dermatitis with arthritis
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- OMIM:263000 Interstitial pneumonitis, desquamative, familial
- OMIM:300048 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
- OMIM:243200 Intracranial hypertension, idiopathic
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- OMIM:601367 Ischemic stroke, susceptibility to
- ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency
- OMIM:611283 Isobutyryl-CoA dehydrogenase deficiency
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:563609 Isolated anencephaly
- ORPHA:30391 Isolated biliary atresia
- ORPHA:199302 Isolated cleft lip
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:91416 Isolated congenital alacrima
- ORPHA:217 Isolated Dandy-Walker malformation
- ORPHA:1885 Isolated ectopia lentis
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- ORPHA:2128 Isolated hemihyperplasia
- ORPHA:2345 Isolated Klippel-Feil syndrome
- ORPHA:166119 Isolated osteopoikilosis
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:2924 Isolated polycystic liver disease
- ORPHA:439 Isolated right ventricular hypoplasia
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:457083 Isolated splenogonadal fusion
- ORPHA:3208 Isolated succinate-CoQ reductase deficiency
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- OMIM:243440 Isotretinoin embryopathy-like syndrome
- ORPHA:2306 Isotretinoin-like syndrome
- OMIM:243500 Isovaleric acidemia
- ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20
- ORPHA:2307 IVIC syndrome
- OMIM:147750 Ivic syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- OMIM:217080 Jalili syndrome
- ORPHA:100077 Jejunal neuroendocrine tumor
- ORPHA:90647 Jervell and Lange-Nielsen syndrome
- OMIM:220400 Jervell and Lange-Nielsen syndrome 1
- OMIM:612347 Jervell and Lange-Nielsen syndrome 2
- ORPHA:33314 Jessner lymphocytic infiltration of the skin
- OMIM:243800 Johanson-Blizzard syndrome
- ORPHA:2315 Johanson-Blizzard syndrome
- OMIM:147770 Johnson neuroectodermal syndrome
- ORPHA:2316 Johnson neuroectodermal syndrome
- ORPHA:475 Joubert syndrome
- OMIM:614424 Joubert syndrome 14
- OMIM:614815 Joubert syndrome 18
- OMIM:608629 Joubert syndrome 3
- OMIM:617757 Joubert syndrome 32
- OMIM:619562 Joubert syndrome 39
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:220493 Joubert syndrome with ocular defect
- ORPHA:2318 Joubert syndrome with oculorenal defect
- ORPHA:220497 Joubert syndrome with renal defect
- ORPHA:93672 Juvenile dermatomyositis
- ORPHA:98977 Juvenile glaucoma
- ORPHA:92 Juvenile idiopathic arthritis
- ORPHA:411634 Juvenile nephropathic cystinosis
- ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis
- ORPHA:2801 Juvenile Paget disease
- ORPHA:79076 Juvenile polyposis of infancy
- OMIM:174900 Juvenile polyposis syndrome
- ORPHA:2929 Juvenile polyposis syndrome
- OMIM:175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- ORPHA: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:254519 Kagami-Ogata syndrome
- OMIM:608149 Kagami-Ogata syndrome
- ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- OMIM:612713 Kahrizi syndrome
- ORPHA:478 Kallmann syndrome
- ORPHA:2326 Kallmann syndrome-heart disease syndrome
- OMIM:609242 Kanzaki disease
- ORPHA:33276 Kaposi sarcoma
- ORPHA:464329 Kaposiform lymphangiomatosis
- OMIM:244300 Kapur-Toriello syndrome
- ORPHA:2328 Kapur-Toriello syndrome
- ORPHA:2330 Kasabach-Merritt syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- ORPHA:2331 Kawasaki disease
- ORPHA:2332 KBG syndrome
- ORPHA:439218 KCNQ2-related epileptic encephalopathy
- OMIM:530000 Kearns-Sayre syndrome
- ORPHA:480 Kearns-Sayre syndrome
- ORPHA:2662 Keipert syndrome
- OMIM:148210 Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant
- OMIM:148200 Keratoendotheliitis fugax hereditaria
- ORPHA:50943 Keratolytic winter erythema
- OMIM:148370 Keratolytic winter erythema
- OMIM:612843 Keratosis follicularis spinulosa decalvans, autosomal dominant
- OMIM:308800 Keratosis follicularis spinulosa decalvans, X-linked
- OMIM:604093 Keratosis pilaris atrophicans
- ORPHA:499 Kerion celsi
- ORPHA:85202 Keutel syndrome
- OMIM:245150 Keutel syndrome
- OMIM:618460 Khan-Khan-Katsanis syndrome
- ORPHA:477 KID syndrome
- ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome
- ORPHA:50918 Kikuchi-Fujimoto disease
- ORPHA:482 Kimura disease
- ORPHA:2908 Kindler epidermolysis bullosa
- OMIM:173650 Kindler syndrome
- OMIM:619542 King-Denborough syndrome
- ORPHA:99978 Klatskin tumor
- 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:118100 Klippel-Feil syndrome 1, autosomal dominant
- OMIM:616549 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
- OMIM:214300 Klippel-Feil syndrome, autosomal recessive
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:149000 Klippel-Trenaunay-Weber syndrome
- 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
- ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma
- 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
Code pathologie
Nom de la pathologie
- OMIM:149700 Lacrimal duct defect
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- ORPHA:59135 Laing early-onset distal myopathy
- ORPHA:1296 Lambert 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:150250 Larsen syndrome
- ORPHA:503 Larsen syndrome
- ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome
- OMIM:245650 Larsen-like syndrome, Lethal type
- ORPHA:100083 Laryngeal neuroendocrine tumor
- ORPHA:137935 Laryngotracheal angioma
- ORPHA:93941 Laryngotracheoesophageal cleft type 4
- ORPHA:1202 Larynx atresia
- ORPHA:99824 Lassa fever
- ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type
- ORPHA:556037 Late-onset familial hypoaldosteronism
- ORPHA:199299 Late-onset isolated ACTH deficiency
- ORPHA:2789 Lateral meningocele syndrome
- OMIM:130720 Lateral meningocele syndrome
- OMIM:601086 Laterality defects, autosomal dominant
- OMIM:607330 Lathosterolosis
- ORPHA:98964 Lattice corneal dystrophy type I
- ORPHA:99094 Laubry-Pezzi syndrome
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:650 LCAT deficiency
- ORPHA:330015 Lead poisoning
- OMIM:612712 Leber congenital amaurosis 13
- OMIM:618513 Leber congenital amaurosis 19
- OMIM:604393 Leber congenital amaurosis 4
- OMIM:613826 Leber congenital amaurosis 6
- OMIM:608553 Leber congenital amaurosis 9
- OMIM:204000 Leber congenital amaurosis, type I
- OMIM:204100 Leber congenital amaurosis, type II
- ORPHA:104 Leber hereditary optic neuropathy
- OMIM:619382 Leber hereditary optic neuropathy, autosomal recessive
- OMIM:535000 Leber optic atrophy
- OMIM:245900 Lecithin:cholesterol acyltransferase deficiency
- OMIM:604169 Left ventricular noncompaction 1
- OMIM:615396 Left ventricular noncompaction 10
- OMIM:609470 Left ventricular noncompaction 2
- OMIM:615092 Left ventricular noncompaction 7
- OMIM:615373 Left ventricular noncompaction 8
- ORPHA:549 Legionnaires disease
- ORPHA:137605 Legius syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:70474 Leigh syndrome with cardiomyopathy
- ORPHA:255241 Leigh syndrome with leukodystrophy
- ORPHA:255249 Leigh syndrome with nephrotic syndrome
- ORPHA:507 Leishmaniasis
- OMIM:151050 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
- OMIM:619149 Lessel-Kreienkamp syndrome
- OMIM:618681 Lessel-Kubisch syndrome
- ORPHA:158687 Lethal acantholytic erosive disorder
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:607598 Lethal congenital contracture syndrome 2
- OMIM:615368 Lethal congenital contracture syndrome 5
- ORPHA:1972 Lethal faciocardiomelic dysplasia
- ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome
- ORPHA:254857 Lethal infantile mitochondrial myopathy
- ORPHA:2347 Lethal Kniest-like dysplasia
- OMIM:246400 Letterer-Siwe disease
- ORPHA:2968 Leukocyte adhesion deficiency
- OMIM:612840 Leukocyte adhesion deficiency, type III
- OMIM:169500 Leukodystrophy, adult-onset, autosomal dominant
- OMIM:619688 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
- ORPHA:542310 Leukoencephalopathy with calcifications and cysts
- OMIM:619189 Li-Campeau syndrome
- OMIM:618974 Li-Ghorgani-Weisz-Hubshman syndrome
- ORPHA:254478 Lichen planus pemphigoides
- ORPHA:526 Liddle syndrome
- OMIM:177200 Liddle syndrome 1
- OMIM:618114 Liddle syndrome 2
- OMIM:618126 Liddle syndrome 3
- ORPHA:99812 LIG4 syndrome
- OMIM:606593 Lig4 syndrome
- ORPHA:2369 Limb body wall complex
- ORPHA:69085 Limb-mammary syndrome
- ORPHA:171673 Limbal stem cell deficiency
- ORPHA:220402 Limited cutaneous systemic sclerosis
- ORPHA:2612 Linear nevus sebaceus syndrome
- OMIM:309801 Linear skin defects with multiple congenital anomalies 1
- OMIM:300887 Linear skin defects with multiple congenital anomalies 2
- OMIM:300952 Linear skin defects with multiple congenital anomalies 3
- OMIM:255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
- ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:612526 Lipodystrophy, congenital generalized, type 3
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- OMIM:608600 Lipodystrophy, familial partial, type 1
- OMIM:151660 Lipodystrophy, familial partial, type 2
- OMIM:604367 Lipodystrophy, familial partial, type 3
- OMIM:613877 Lipodystrophy, familial partial, type 4
- OMIM:615238 Lipodystrophy, familial partial, type 5
- OMIM:615980 Lipodystrophy, familial partial, type 6
- OMIM:606721 Lipodystrophy, familial partial, type 7
- ORPHA:69078 Liposarcoma
- OMIM:616299 Lipoyltransferase 1 deficiency
- OMIM:607432 Lissencephaly 1
- OMIM:618325 Lissencephaly 9 with complex brainstem malformation
- ORPHA:95232 Lissencephaly due to LIS1 mutation
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation
- ORPHA:533 Listeriosis
- ORPHA:542643 Livedoid vasculopathy
- OMIM:619991 Liver disease, severe congenital
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form
- ORPHA:90289 Localized scleroderma
- ORPHA:75566 Loeffler endocarditis
- ORPHA:60030 Loeys-Dietz syndrome
- OMIM:609192 Loeys-Dietz syndrome 1
- OMIM:610168 Loeys-Dietz syndrome 2
- OMIM:613795 Loeys-Dietz syndrome 3
- OMIM:614816 Loeys-Dietz syndrome 4
- OMIM:615582 Loeys-Dietz syndrome 5
- OMIM:619656 Loeys-Dietz syndrome 6
- ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- OMIM:192500 Long QT syndrome 1
- OMIM:611819 Long QT syndrome 10
- OMIM:611820 Long QT syndrome 11
- OMIM:612955 Long QT syndrome 12
- OMIM:613485 Long QT syndrome 13
- OMIM:616247 Long QT syndrome 14
- OMIM:616249 Long QT syndrome 15
- OMIM:618782 Long QT syndrome 16
- OMIM:613688 Long QT syndrome 2
- OMIM:603830 Long QT syndrome 3
- OMIM:613695 Long QT syndrome 5
- OMIM:613693 Long QT syndrome 6
- OMIM:618447 Long QT syndrome 8
- OMIM:611818 Long QT syndrome 9
- OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency
- ORPHA:69663 Low phospholipid-associated cholelithiasis
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- ORPHA:2409 Lowry-MacLean syndrome
- OMIM:600252 Lowry-Maclean syndrome
- ORPHA:776 Lujan-Fryns syndrome
- OMIM:309520 Lujan-Fryns syndrome
- ORPHA:319213 Lujo hemorrhagic fever
- ORPHA:83628 LUMBAR syndrome
- OMIM:601612 Lung agenesis, congenital heart defects, and thumb anomalies syndrome
- ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:619460 Luo-Schoch-Yamamoto syndrome
- ORPHA:91546 Lyme disease
- OMIM:152800 Lymphangiectasia, intestinal
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- OMIM:606690 LYMPHANGIOLEIOMYOMATOSIS
- ORPHA:538 Lymphangioleiomyomatosis
- ORPHA:2035 Lymphatic filariasis
- OMIM:153100 Lymphatic malformation 1
- OMIM:620014 Lymphatic malformation 12
- OMIM:617300 Lymphatic malformation 7
- OMIM:618773 Lymphatic malformation 8
- OMIM:619319 Lymphatic malformation 9
- OMIM:152900 Lymphedema and cerebral arteriovenous anomaly
- OMIM:601927 Lymphedema, cardiac septal defects, and characteristic facies
- OMIM:153200 Lymphedema, hereditary, II
- OMIM:616843 Lymphedema, hereditary, III
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:153400 Lymphedema-Distichiasis syndrome
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- OMIM:247610 Lymphoid interstitial pneumonia
- ORPHA:79128 Lymphoid interstitial pneumonia
- OMIM:613011 Lymphoproliferative syndrome 1
- OMIM:615122 Lymphoproliferative syndrome 2
- OMIM:618261 Lymphoproliferative syndrome 3
- OMIM:308240 Lymphoproliferative syndrome, X-linked, 1
- OMIM:300635 Lymphoproliferative syndrome, X-linked, 2
- ORPHA:144 Lynch syndrome
- ORPHA:470 Lysinuric protein intolerance
- OMIM:222700 Lysinuric protein intolerance
- ORPHA:275761 Lysosomal acid lipase deficiency
- OMIM:278000 Lysosomal acid lipase deficiency
Code pathologie
Nom de la pathologie
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- OMIM:619769 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
- ORPHA:397612 Macrocephaly-developmental delay syndrome
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- OMIM:605309 Macrocephaly/autism syndrome
- ORPHA:158061 Macrophage activation syndrome
- OMIM:155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- OMIM:603075 Macular degeneration, age-related, 1
- ORPHA:79457 Maculopapular cutaneous mastocytosis
- ORPHA:163634 Maffucci syndrome
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- OMIM:619290 Mahvash disease
- OMIM:609628 Majeed syndrome
- ORPHA:77297 Majeed syndrome
- ORPHA:87503 Mal de Meleda
- ORPHA:556 Malakoplakia
- OMIM:614753 Malan syndrome
- OMIM:602248 Malignant atrophic papulosis
- ORPHA:679 Malignant atrophic papulosis
- ORPHA:423 Malignant hyperthermia of anesthesia
- OMIM:145600 Malignant hyperthermia, susceptibility to, 1
- OMIM:601887 Malignant hyperthermia, susceptibility to, 5
- OMIM:248360 Malonyl-CoA decarboxylase deficiency
- OMIM:212112 Malouf syndrome
- ORPHA:52417 MALT lymphoma
- OMIM:615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- OMIM:619127 Mandibuloacral dysplasia progeroid syndrome
- OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy
- OMIM:616367 Mandibulofacial dysostosis with alopecia
- OMIM:602562 Mandibulofacial dysostosis with macroblepharon and macrostomia
- OMIM:610536 Mandibulofacial dysostosis, Guion-Almeida type
- ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome
- OMIM:248510 Mannosidosis, beta
- ORPHA:52416 Mantle cell lymphoma
- OMIM:619322 Marbach-Rustad progeroid syndrome
- ORPHA:99826 Marburg hemorrhagic fever
- 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:602535 Marshall-Smith syndrome
- ORPHA:561 Marshall-Smith syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:604308 Mass syndrome
- ORPHA:66661 Mast cell sarcoma
- ORPHA:98292 Mastocytosis
- OMIM:154800 Mastocytosis, cutaneous
- ORPHA:2209 Maternal phenylketonuria
- ORPHA:261519 Maternal uniparental disomy of chromosome X
- ORPHA:225 Maternally-inherited diabetes and deafness
- ORPHA:2470 Matthew-Wood syndrome
- ORPHA:2471 McDonough syndrome
- ORPHA:2473 McKusick-Kaufman syndrome
- OMIM:236700 Mckusick-Kaufman syndrome
- OMIM:300842 Mcleod syndrome
- ORPHA:3097 Meacham syndrome
- OMIM:608978 Meacham syndrome
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:619879 Meckel syndrome 14
- OMIM:611134 Meckel syndrome, type 4
- OMIM:267010 Meckel syndrome, type 7
- OMIM:613885 Meckel syndrome, type 8
- ORPHA:70588 Meconium aspiration syndrome
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- ORPHA:1332 Medullary thyroid carcinoma
- ORPHA:616 Medulloblastoma
- OMIM:300989 Meester-Loeys syndrome
- OMIM:618719 Megabladder, congenital
- ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
- OMIM:619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
- OMIM:619362 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
- OMIM:619431 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
- ORPHA:2477 Megalencephaly
- ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- OMIM:603387 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- OMIM:615937 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
- ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- OMIM:617063 Meier-Gorlin syndrome 7
- ORPHA:90186 Meige disease
- ORPHA:550 MELAS
- OMIM:248300 Meleda disease
- ORPHA:31202 Melioidosis
- ORPHA:2483 Melkersson-Rosenthal syndrome
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- ORPHA:2485 Melorheostosis
- ORPHA:1879 Melorheostosis with osteopoikilosis
- OMIM:305800 Membranoproliferative glomerulonephritis, X-linked
- OMIM:300960 Mend syndrome
- ORPHA:401973 MEND syndrome
- ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- ORPHA:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
- ORPHA:2494 Ménétrier disease
- ORPHA:2495 Meningioma
- ORPHA:33475 Meningococcal meningitis
- ORPHA:565 Menkes disease
- OMIM:309400 Menkes disease
- OMIM:616789 Mental retardation and distinctive facial features with or without cardiac defects
- OMIM:617061 Mental retardation, autosomal dominant 44
- OMIM:617635 Mental retardation, autosomal dominant 47
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:614249 Mental retardation, autosomal recessive 18
- OMIM:616193 Mental retardation, autosomal recessive 47
- 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:300997 Mental retardation, X-linked 106
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300886 Mental retardation, X-linked, syndromic 32
- 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:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- ORPHA:330021 Mercury poisoning
- OMIM:249660 Mesangial sclerosis, diffuse renal, with ocular abnormalities
- OMIM:249670 Mesoaxial hexadactyly and cardiac malformation
- ORPHA:2496 Mesomelia-synostoses syndrome
- OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- ORPHA:309271 Metachromatic leukodystrophy, adult form
- OMIM:156310 Metachromatic leukodystrophy, adult-onset, with normal arylsulfatasea
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- ORPHA:31825 Methanol poisoning
- ORPHA:1923 Methimazole embryofetopathy
- ORPHA:2169 Methylcobalamin deficiency type cblE
- ORPHA:26 Methylmalonic acidemia with homocystinuria
- ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- OMIM:277380 Methylmalonic aciduria and homocystinuria, Cblf type
- OMIM:614857 Methylmalonic aciduria and homocystinuria, Cblj type
- OMIM:251000 Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
- ORPHA:29 Mevalonic aciduria
- OMIM:610377 Mevalonic aciduria
- ORPHA:79329 MGAT2-CDG
- ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency
- ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II
- OMIM:210710 Microcephalic osteodysplastic primordial dwarfism, type I
- OMIM:210720 Microcephalic osteodysplastic primordial dwarfism, type II
- OMIM:616051 Microcephaly 13, primary, autosomal recessive
- OMIM:619179 Microcephaly 26, primary, autosomal dominant
- OMIM:614407 Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome
- OMIM:601355 Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- OMIM:618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2
- OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2
- OMIM:614833 Microcephaly, short stature, and polymicrogyria with or without seizures
- OMIM:614261 Microcephaly-Capillary malformation syndrome
- ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome
- OMIM:251220 MICROCEPHALY-CARDIOMYOPATHY
- ORPHA:2515 Microcephaly-cardiomyopathy 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:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
- ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability 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:206920 Microphthalmia with limb anomalies
- ORPHA:1106 Microphthalmia with limb anomalies
- ORPHA:2556 Microphthalmia with linear skin defects syndrome
- ORPHA:568 Microphthalmia, Lenz type
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:615524 Microphthalmia, syndromic 12
- OMIM:300166 Microphthalmia, syndromic 2
- OMIM:206900 Microphthalmia, syndromic 3
- OMIM:601186 Microphthalmia, syndromic 9
- ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome
- ORPHA:727 Microscopic polyangiitis
- ORPHA:2552 Microsporidiosis
- ORPHA:2290 Microvillus inclusion disease
- ORPHA:100084 Middle ear neuroendocrine tumor
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:531 Miller-Dieker syndrome
- ORPHA:79452 Milroy disease
- OMIM:617053 Mirage syndrome
- ORPHA:521219 Mirizzi syndrome
- OMIM:616059 Mirror movements 3
- ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618234 Mitochondrial complex I deficiency, nuclear type 11
- OMIM:618235 Mitochondrial complex I deficiency, nuclear type 13
- OMIM:618236 Mitochondrial complex I deficiency, nuclear type 14
- OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15
- OMIM:618241 Mitochondrial complex I deficiency, nuclear type 19
- OMIM:618222 Mitochondrial complex I deficiency, nuclear type 2
- OMIM:611126 Mitochondrial complex I deficiency, nuclear type 20
- OMIM:618243 Mitochondrial complex I deficiency, nuclear type 22
- OMIM:618250 Mitochondrial complex I deficiency, nuclear type 29
- OMIM:301021 Mitochondrial complex I deficiency, nuclear type 30
- OMIM:619003 Mitochondrial complex I deficiency, nuclear type 35
- OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36
- OMIM:619272 Mitochondrial complex I deficiency, nuclear type 37
- OMIM:620135 Mitochondrial complex I deficiency, nuclear type 39
- OMIM:618228 Mitochondrial complex I deficiency, nuclear type 6
- OMIM:618229 Mitochondrial complex I deficiency, nuclear type 7
- 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:615160 Mitochondrial complex III deficiency, nuclear type 5
- 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:616501 Mitochondrial complex IV deficiency, nuclear type 13
- 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:619048 Mitochondrial complex IV deficiency, nuclear type 4
- OMIM:615119 Mitochondrial complex IV deficiency, nuclear type 6
- OMIM:619051 Mitochondrial complex IV deficiency, nuclear type 7
- OMIM:618120 Mitochondrial complex V (ATP synthase) deficiency nuclear type 5
- OMIM:614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- OMIM:614053 Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
- OMIM:618683 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
- OMIM:617184 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
- OMIM:619780 Mitochondrial DNA depletion syndrome 20 (MNGIE type)
- OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome
- ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss
- ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- OMIM:540000 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
- OMIM:610773 Mitochondrial phosphate carrier deficiency
- OMIM:616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
- OMIM:609015 Mitochondrial trifunctional protein deficiency
- ORPHA:746 Mitochondrial trifunctional protein deficiency
- OMIM:157700 Mitral valve prolapse 1
- OMIM:607829 Mitral valve prolapse, myxomatous 2
- OMIM:610840 Mitral valve prolapse, myxomatous 3
- ORPHA:809 Mixed connective tissue disease
- ORPHA:90036 Mixed-type autoimmune hemolytic anemia
- ORPHA:45448 Miyoshi myopathy
- ORPHA:3434 MMEP syndrome
- ORPHA:79330 MOGS-CDG
- OMIM:157980 MOMO syndrome
- ORPHA:2563 MOMO syndrome
- ORPHA:1587 Monosomy 13q14
- ORPHA:96168 Monosomy 13q34
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:281 Monosomy 5p
- ORPHA:261112 Monosomy 9p
- ORPHA:77301 Monosomy 9q22.3
- ORPHA:99226 Monosomy X
- OMIM:615703 Morbid obesity and spermatogenic failure
- ORPHA:77296 Morgagni-Stewart-Morel syndrome
- 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
- 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
- ORPHA:2573 Moyamoya disease
- OMIM:252350 Moyamoya disease 1
- OMIM:607151 Moyamoya disease 2, susceptibility to
- OMIM:300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism
- OMIM:614042 Moyamoya disease 5
- OMIM:615750 Moyamoya disease 6 with achalasia
- ORPHA:401945 Moyamoya disease with early-onset achalasia
- ORPHA:79319 MPI-CDG
- ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia
- ORPHA:100024 Mu-heavy chain disease
- 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
- ORPHA:576 Mucolipidosis type II
- ORPHA:577 Mucolipidosis type III
- 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:252900 Mucopolysaccharidosis type IIIA
- OMIM:252920 Mucopolysaccharidosis type IIIB
- 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
- OMIM:253250 Mulibrey nanism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- OMIM:166300 Multicentric carpotarsal osteolysis syndrome
- OMIM:259600 Multicentric osteolysis, nodulosis, and arthropathy
- ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum
- ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- ORPHA:2505 Multiple benign circumferential skin creases on limbs
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- OMIM:614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1
- OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- OMIM:614569 Multiple enchondromatosis, Maffucci type
- ORPHA:652 Multiple endocrine neoplasia type 1
- ORPHA:653 Multiple endocrine neoplasia type 2
- ORPHA:276152 Multiple endocrine neoplasia type 4
- OMIM:171400 Multiple endocrine neoplasia, type IIA
- OMIM:245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
- OMIM:605711 Multiple mitochondrial dysfunctions syndrome 1
- OMIM:614299 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
- ORPHA:29073 Multiple myeloma
- ORPHA:321 Multiple osteochondromas
- OMIM:253290 Multiple pterygium syndrome, Lethal type
- OMIM:312150 Multiple pterygium syndrome, X-linked
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- ORPHA: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
- OMIM:300376 Muscular dystrophy, Becker type
- OMIM:309930 Muscular dystrophy, Cardiac type
- OMIM:602541 Muscular dystrophy, congenital, Megaconial type
- OMIM:608807 Muscular dystrophy, limb-girdle, autosomal recessive 10
- OMIM:616812 Muscular dystrophy, limb-girdle, autosomal recessive 25
- OMIM:619566 Muscular dystrophy, limb-girdle, autosomal recessive 27
- OMIM:253700 Muscular dystrophy, limb-girdle, type 2C
- OMIM:608099 Muscular dystrophy, limb-girdle, type 2D
- OMIM:604286 Muscular dystrophy, limb-girdle, type 2E
- OMIM:601287 Muscular dystrophy, limb-girdle, type 2F
- OMIM:616827 Muscular dystrophy, limb-girdle, type 2W
- OMIM:617072 Muscular dystrophy, limb-girdle, type 2Y
- OMIM:310095 Muscular dystrophy, progressive pectorodorsal
- OMIM:600416 Muscular dystrophy, scapulohumeral
- 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: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:609308 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
- OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
- OMIM:612937 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
- OMIM:613158 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
- OMIM:607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan
- OMIM:254200 Myasthenia gravis
- ORPHA:589 Myasthenia gravis
- OMIM:159400 Myasthenia, limb-girdle, autoimmune
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- ORPHA:2583 Mycetoma
- ORPHA:268249 Mycophenolate mofetil embryopathy
- OMIM:254400 Mycosis fungoides
- OMIM:254450 Myelofibrosis with myeloid metaplasia, somatic
- ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy
- ORPHA:182050 MYH9-related disease
- OMIM:139210 Myhre syndrome
- ORPHA:2588 Myhre syndrome
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- OMIM:619040 Myofibrillar myopathy 10
- OMIM:619178 Myofibrillar myopathy 11
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:609500 Myopathy, autophagic vacuolar, infantile-onset
- OMIM:615959 Myopathy, centronuclear, 5
- OMIM:618654 Myopathy, congenital with structured cores and Z-line abnormalities
- OMIM:619967 Myopathy, congenital, nonprogressive
- OMIM:255310 Myopathy, congenital, with fiber-type disproportion
- OMIM:300580 Myopathy, congenital, with fiber-type disproportion, X-linked
- OMIM:160500 Myopathy, distal, 1
- OMIM:614065 Myopathy, distal, 4
- OMIM:301075 Myopathy, distal, 7, adult-onset, X-linked
- OMIM:614321 Myopathy, distal, Tateyama type
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
- OMIM:613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
- OMIM:601419 Myopathy, myofibrillar, 1
- OMIM:619424 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- OMIM:608810 Myopathy, myofibrillar, 2, mfm2
- OMIM:609452 Myopathy, myofibrillar, 4
- OMIM:612954 Myopathy, myofibrillar, 6
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:608358 Myopathy, myosin storage, autosomal dominant
- OMIM:255160 Myopathy, myosin storage, autosomal recessive
- OMIM:300718 Myopathy, reducing body, X-linked, childhood-onset
- OMIM:310440 Myopathy, X-linked, with excessive autophagy
- OMIM:300696 Myopathy, X-linked, with postural muscle atrophy
- OMIM:609200 MYOTILINOPATHY
- OMIM:255960 Myxoma, intracardiac
Code pathologie
Nom de la pathologie
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- ORPHA:245 Nager syndrome
- ORPHA:2614 Nail-patella syndrome
- ORPHA:2613 Nail-patella-like renal disease
- 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
- OMIM:255990 Nathalie syndrome
- ORPHA:2663 Nathalie syndrome
- ORPHA:168572 Native American myopathy
- OMIM:601214 Naxos disease
- ORPHA:34217 Naxos disease
- ORPHA:542592 Necrobiosis lipoidica
- OMIM:161700 Necrotizing encephalomyelopathy, subacute, of leigh, adult
- ORPHA:391673 Necrotizing enterocolitis
- ORPHA:199244 Nelson syndrome
- OMIM:617336 Nemaline myopathy 11, autosomal recessive
- OMIM:161800 Nemaline myopathy 3
- OMIM:615731 Nemaline myopathy 9
- ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency
- ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome
- ORPHA:294023 Neonatal inflammatory skin and bowel disease
- ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency
- ORPHA:398124 Neonatal lupus erythematosus
- ORPHA:284979 Neonatal Marfan syndrome
- ORPHA:417 Neonatal severe primary hyperparathyroidism
- ORPHA:94058 Neovascular glaucoma
- ORPHA:654 Nephroblastoma
- ORPHA:223 Nephrogenic diabetes insipidus
- OMIM:300539 Nephrogenic syndrome of inappropriate antidiuresis
- OMIM:256100 Nephronophthisis 1
- OMIM:614844 Nephronophthisis 14
- OMIM:615382 Nephronophthisis 16
- OMIM:616217 Nephronophthisis 19
- OMIM:602088 Nephronophthisis 2
- OMIM:613159 Nephronophthisis-Like nephropathy 1
- OMIM:256150 NEPHROSIALIDOSIS
- OMIM:616730 Nephrotic syndrome, type 11
- OMIM:614008 Nestor-Guillermo progeria syndrome
- ORPHA:634 Netherton syndrome
- OMIM:256500 Netherton syndrome
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- 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:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
- OMIM:620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
- OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
- 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:619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies
- OMIM:618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
- OMIM:619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- OMIM:618659 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
- OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
- OMIM:619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
- OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
- OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- 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:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- 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:619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
- OMIM:619908 Neurodevelopmental disorder with language delay and seizure
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- OMIM:619239 Neurodevelopmental disorder with or without autism or seizures
- OMIM:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- OMIM:619517 Neurodevelopmental disorder with seizures and brain abnormalities
- OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural 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: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:100079 Neuroendocrine neoplasm of appendix
- ORPHA:100082 Neuroendocrine tumor of anal canal
- ORPHA:100075 Neuroendocrine tumor of stomach
- ORPHA:100080 Neuroendocrine tumor of the colon
- ORPHA:100081 Neuroendocrine tumor of the rectum
- ORPHA:2673 Neurofaciodigitorenal syndrome
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:252183 Neurofibroma
- ORPHA:1143 Neurogenic arthrogryposis multiplex congenita
- ORPHA:94093 Neuroleptic malignant syndrome
- ORPHA:99811 Neuronal intestinal pseudoobstruction
- OMIM:620080 Neuronopathy, distal hereditary motor, type X
- OMIM:619539 Neuroocular syndrome
- OMIM:618652 Neurooculocardiogenitourinary syndrome
- OMIM:608088 Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- OMIM:610717 Neutral lipid storage disease with myopathy
- ORPHA:98908 Neutral lipid storage myopathy
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- OMIM:615285 Neutropenia, severe congenital, 5, autosomal recessive
- OMIM:619813 Neutropenia, severe congenital, 9, autosomal dominant
- OMIM:162830 Neutrophilia, hereditary
- OMIM:608068 Neutrophilic dermatosis, acute febrile
- OMIM:601358 Nicolaides-Baraitser syndrome
- ORPHA:3051 Nicolaides-Baraitser syndrome
- 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:613830 Night blindness, congenital stationary, type 1D
- ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome
- ORPHA:99825 Nipah virus disease
- ORPHA:263665 NK-cell enteropathy
- ORPHA:217253 NMDA receptor encephalitis
- ORPHA:31204 Nocardiosis
- ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma
- ORPHA:33577 Nodular non-suppurative panniculitis
- ORPHA:48372 Nodular regenerative hyperplasia of the liver
- ORPHA:90695 Non-acquired panhypopituitarism
- ORPHA:1695 Non-distal trisomy 10q
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:2337 Non-epidermolytic palmoplantar keratoderma
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:91349 Non-functioning pituitary adenoma
- ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome
- ORPHA:141179 Non-involuting congenital hemangioma
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis
- 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:649 Norrie disease
- OMIM:604901 North american indian childhood cirrhosis
Code pathologie
Nom de la pathologie
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency
- ORPHA:369873 Obesity due to SIM1 deficiency
- ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- ORPHA:198 Occipital horn syndrome
- OMIM:304150 Occipital horn syndrome
- ORPHA:2704 Ochoa syndrome
- ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:398156 Oculoauriculofrontonasal syndrome
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- OMIM:164200 Oculodentodigital dysplasia
- ORPHA:2710 Oculodentodigital dysplasia
- OMIM:600268 Oculoectodermal syndrome
- ORPHA:2712 Oculofaciocardiodental syndrome
- ORPHA:1876 Oculogastrointestinal muscular dystrophy
- OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome
- OMIM:164310 Oculopharyngodistal myopathy 1
- OMIM:618440 Oculoskeletodental syndrome
- ORPHA:557003 Oculoskeletodental syndrome
- ORPHA:166272 Odontochondrodysplasia
- ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome
- OMIM:257980 Odontoonychodermal dysplasia
- ORPHA:276432 Ogden syndrome
- OMIM:300855 Ogden syndrome
- OMIM:249620 Ohdo syndrome
- OMIM:603736 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- ORPHA:2729 Okamoto syndrome
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- ORPHA:2260 Oligomeganephronia
- ORPHA:296 Ollier disease
- OMIM:603554 Omenn syndrome
- ORPHA:39041 Omenn syndrome
- OMIM:258315 Omodysplasia 1
- OMIM:619356 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
- OMIM:258360 Onychotrichodysplasia and neutropenia
- ORPHA:2745 Opitz GBBB syndrome
- OMIM:300000 Opitz GBBB syndrome
- OMIM:305450 Opitz-Kaveggia syndrome
- ORPHA:2746 Opsismodysplasia
- OMIM:612989 Optic atrophy 7 with or without auditory neuropathy
- OMIM:616648 Optic atrophy 8
- ORPHA:31142 Oral erosive lichen
- ORPHA:664 Ornithine transcarbamylase deficiency
- OMIM:311250 Ornithine transcarbamylase deficiency, hyperammonemia due to
- OMIM:311200 Orofaciodigital syndrome I
- 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:615948 Orofaciodigital syndrome XIV
- OMIM:617926 Orofaciodigital syndrome XVII
- OMIM:258900 Orotic aciduria
- OMIM:223360 Orthostatic hypotension 1, due to DBH deficiency
- OMIM:618182 Orthostatic hypotension 2
- OMIM:143850 Orthostatic hypotensive disorder, Streeten type
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- OMIM:166990 Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension
- ORPHA:666 Osteogenesis imperfecta
- OMIM:166200 Osteogenesis imperfecta, type I
- OMIM:166210 Osteogenesis imperfecta, type II
- OMIM:259420 Osteogenesis imperfecta, type III
- OMIM:610682 Osteogenesis imperfecta, type VII
- OMIM:610968 Osteogenesis imperfecta, type XI
- OMIM:613849 Osteogenesis imperfecta, type XII
- OMIM:616229 Osteogenesis imperfecta, type XVI
- OMIM:616507 Osteogenesis imperfecta, type XVII
- OMIM:300373 Osteopathia striata with cranial sclerosis
- ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:618107 Osteopetrosis, autosomal dominant 3
- 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
- ORPHA:2788 Osteoporosis-pseudoglioma syndrome
- OMIM:259770 Osteoporosis-pseudoglioma syndrome
- OMIM:615560 Otofaciocervical syndrome 2
- ORPHA:90652 Otopalatodigital syndrome type 2
- OMIM:304120 Otopalatodigital syndrome, type II
- ORPHA:64739 Ovarian hyperstimulation syndrome
- ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome
- ORPHA:3203 Overhydrated hereditary stomatocytosis
- OMIM:185000 Overhydrated hereditary stomatocytosis
- ORPHA:206572 Overlap myositis
Code pathologie
Nom de la pathologie
- ORPHA:2796 Pachydermoperiostosis
- OMIM:616833 Paget disease of bone 6
- ORPHA:991 PAGOD syndrome
- ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:601803 Pallister-Killian syndrome
- OMIM:212360 Palmoplantar keratoderma and congenital alopecia 2
- OMIM:104100 Palmoplantar keratoderma with congenital alopecia
- ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome
- OMIM:604809 Panbronchiolitis, diffuse
- OMIM:600001 Pancreatic agenesis and congenital heart defects
- OMIM:609069 Pancreatic and cerebellar agenesis
- ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- OMIM:260450 Pancreatic insufficiency, combined exocrine
- ORPHA:309031 Pancreatic triacylglycerol lipase deficiency
- ORPHA:677 Pancreatoblastoma
- ORPHA:95513 Panhypophysitis
- ORPHA:90159 Panniculitis-induced localized lipodystrophy
- OMIM:120330 Papillorenal syndrome
- OMIM:168000 Paragangliomas 1
- OMIM:605373 Paragangliomas 3
- OMIM:115310 Paragangliomas 4
- OMIM:618464 Paragangliomas 6
- ORPHA:63455 Paraneoplastic pemphigus
- ORPHA:143 Parathyroid carcinoma
- ORPHA:567983 Parenteral nutrition-associated cholestasis
- ORPHA:851 Paris-Trousseau thrombocytopenia
- OMIM:608355 Parkes weber syndrome
- ORPHA:90307 Parkes Weber syndrome
- OMIM:616710 Parkinson disease 22, autosomal dominant
- OMIM:605543 Parkinson disease 4
- OMIM:167400 Paroxysmal extreme pain disorder
- ORPHA:157835 Paroxysmal hemicrania
- ORPHA:447 Paroxysmal nocturnal hemoglobinuria
- OMIM:615399 Paroxysmal nocturnal hemoglobinuria 2
- ORPHA:1330 Partial atrioventricular septal defect
- ORPHA:261911 Partial deletion of the short arm of chromosome 7
- OMIM:607411 Patent ductus arteriosus 1
- OMIM:617035 Patent ductus arteriosus 2
- OMIM:617039 Patent ductus arteriosus 3
- OMIM:604381 Patent ductus arteriosus and bicuspid aortic valve with hand anomalies
- ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
- OMIM:601466 Patent ductus venosus
- 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:93552 Pediatric systemic lupus erythematosus
- ORPHA:525731 Pediatric-onset Graves disease
- OMIM:616265 Peeling skin syndrome 3
- OMIM:609796 Peeling skin syndrome, Acral type
- OMIM:169400 Pelger-Huet anomaly
- ORPHA:702 Pelizaeus-Merzbacher disease
- ORPHA:79481 Pemphigus foliaceus
- ORPHA:704 Pemphigus vulgaris
- ORPHA:49 Penile agenesis
- ORPHA:2842 Penoscrotal transposition
- ORPHA:1335 Pentalogy of Cantrell
- ORPHA:11 Pentasomy X
- ORPHA:2847 Pericardial and diaphragmatic defect
- OMIM:142680 Periodic fever, familial, autosomal dominant
- OMIM:150550 Periodic fever, immunodeficiency, and thrombocytopenia syndrome
- ORPHA:563 Peripartum cardiomyopathy
- 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:619903 Peripheral motor neuropathy, childhood-onset, biotin-responsive
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- ORPHA:98892 Periventricular nodular heterotopia
- OMIM:267000 Perlman syndrome
- ORPHA:2849 Perlman syndrome
- OMIM:614885 Peroxisome biogenesis disorder 11B
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger)
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:614859 Peroxisome biogenesis disorder 3A (Zellweger)
- OMIM:614866 Peroxisome biogenesis disorder 5A (Zellweger)
- OMIM:614876 Peroxisome biogenesis disorder 8A (Zellweger)
- OMIM:614879 Peroxisome biogenesis disorder 9B
- ORPHA:178509 Perry syndrome
- ORPHA:91495 Persistent hyperplastic primary vitreous
- OMIM:221900 Persistent hyperplastic primary vitreous, autosomal recessive
- OMIM:606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS
- ORPHA:709 Peters plus syndrome
- OMIM:261540 Peters-Plus syndrome
- ORPHA:2869 Peutz-Jeghers syndrome
- OMIM:175200 Peutz-Jeghers syndrome
- ORPHA:42642 PFAPA syndrome
- ORPHA:2871 Pfeiffer-Palm-Teller syndrome
- ORPHA:443811 PGM3-CDG
- OMIM:606519 PHACE association
- ORPHA:42775 PHACE syndrome
- ORPHA:209959 Phacoanaphylactic uveitis
- ORPHA:2874 Phakomatosis pigmentokeratotica
- ORPHA:2875 Phakomatosis pigmentovascularis
- ORPHA:2876 PHAVER syndrome
- OMIM:606232 Phelan-Mcdermid syndrome
- ORPHA:1919 Phenobarbital embryopathy
- ORPHA:716 Phenylketonuria
- OMIM:171300 PHEOCHROMOCYTOMA
- OMIM:171420 Pheochromocytoma-Islet cell tumor syndrome
- OMIM:171480 Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia
- ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
- ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:261800 Pierre Robin syndrome
- OMIM:609049 Pierson syndrome
- OMIM:301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked
- OMIM:610489 Pigmented nodular adrenocortical disease, primary, 1
- OMIM:610475 Pigmented nodular adrenocortical disease, primary, 2
- OMIM:615830 Pigmented nodular adrenocortical disease, primary, 4
- ORPHA:2890 Pili torti-onychodysplasia syndrome
- OMIM:614325 Pitt-Hopkins-Like syndrome 2
- OMIM:219090 Pituitary adenoma 4, ACTH-secreting, somatic
- OMIM:102200 Pituitary adenoma, growth hormone-secreting, 1
- ORPHA:95613 Pituitary apoplexy
- ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome
- ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts
- ORPHA:99725 Pituitary gigantism
- ORPHA:439167 Placental insufficiency
- ORPHA:707 Plague
- OMIM:262800 Plasma clot retraction factor, deficiency of
- OMIM:262850 Plasmin inhibitor deficiency
- OMIM:217090 Plasminogen deficiency, type I
- OMIM:601399 Platelet disorder, familial, with associated myeloid malignancy
- OMIM:262875 Platelet prostacyclin receptor defect
- ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
- ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17
- ORPHA:50251 Pleural mesothelioma
- ORPHA:280356 PLIN1-related familial partial lipodystrophy
- ORPHA:79318 PMM2-CDG
- ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome
- ORPHA:2905 POEMS syndrome
- OMIM:604173 Poikiloderma with neutropenia
- ORPHA:2911 Poland syndrome
- OMIM:173800 Poland syndrome
- ORPHA:2912 Poliomyelitis
- ORPHA:767 Polyarteritis nodosa
- OMIM:613095 Polycystic kidney disease 2
- OMIM:600666 Polycystic kidney disease 3
- OMIM:263200 Polycystic kidney disease 4 with or without polycystic liver disease
- OMIM:617610 Polycystic kidney disease 5
- OMIM:618061 Polycystic kidney disease 6 with or without polycystic liver disease
- OMIM:620056 Polycystic kidney disease 7
- OMIM:173900 Polycystic kidneys
- OMIM:174050 Polycystic liver disease 1 with or without kidney cysts
- ORPHA:729 Polycythemia vera
- OMIM:263300 Polycythemia vera
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:263570 Polyglucosan body neuropathy, adult form
- OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy
- ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- OMIM:618343 Polymicrogyria with or without vascular-type EDS
- ORPHA:732 Polymyositis
- ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- OMIM:263630 Polysyndactyly with cardiac malformation
- ORPHA:228410 Polyvalvular heart disease syndrome
- ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11
- ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14
- OMIM:618810 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
- OMIM:619909 Pontocerebellar hypoplasia, type 17
- OMIM:615851 Pontocerebellar hypoplasia, type 2E
- OMIM:614961 Pontocerebellar hypoplasia, type 8
- OMIM:263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1
- OMIM:618428 Popov-Chang syndrome
- OMIM:601322 Porencephaly, cerebellar hypoplasia, and internal malformations
- OMIM:175850 Porokeratosis plantaris, palmaris, et disseminata
- ORPHA:738 Porphyria
- ORPHA:79473 Porphyria variegata
- OMIM:176200 Porphyria variegata
- OMIM:176000 Porphyria, acute intermittent
- OMIM:263700 Porphyria, congenital erythropoietic
- ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- OMIM:617068 Portal hypertension, noncirrhotic
- OMIM:619463 Portal hypertension, noncirrhotic, 2
- OMIM:601004 Portal vein, cavernous transformation of
- ORPHA:95619 Post-traumatic pituitary deficiency
- ORPHA:246 Postaxial acrofacial dysostosis
- ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome
- ORPHA:93110 Posterior urethral valve
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:279947 Postorgasmic illness syndrome
- OMIM:610883 Potocki-Lupski syndrome
- ORPHA:52022 Potocki-Shaffer syndrome
- ORPHA:79083 PPARG-related familial partial lipodystrophy
- ORPHA:97278 PPoma
- ORPHA:739 Prader-Willi syndrome
- ORPHA:177907 Prader-Willi syndrome due to translocation
- ORPHA:275555 Preeclampsia
- OMIM:189800 Preeclampsia/eclampsia 1
- OMIM:264060 Prepapillary vascular loops
- ORPHA:90160 Pressure-induced localized lipoatrophy
- OMIM:615474 Primary aldosteronism, seizures, and neurologic abnormalities
- ORPHA:140989 Primary angiitis of the central nervous system
- ORPHA:186 Primary biliary cholangitis
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:48686 Primary effusion lymphoma
- ORPHA:90026 Primary erythromelalgia
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:416 Primary hyperoxaluria
- ORPHA:93598 Primary hyperoxaluria type 1
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:90970 Primary lipodystrophy
- ORPHA:54370 Primary membranoproliferative glomerulonephritis
- ORPHA:824 Primary myelofibrosis
- ORPHA:357225 Primary non-essential cutis verticis gyrata
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- ORPHA:75567 Primary progressive freezing gait
- ORPHA:2257 Primary pulmonary hypoplasia
- OMIM:176630 Primary release disorder of platelets
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:289390 Primary Sjögren syndrome
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- ORPHA:231580 Primary unilateral adrenal hyperplasia
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- ORPHA:141099 Proboscis lateralis
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:602249 Progeroid facial appearance with hand anomalies
- OMIM:176690 Progeroid short stature with pigmented nevi
- 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:616479 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
- OMIM:618098 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- OMIM:113900 Progressive familial heart block, type IA
- OMIM:604559 Progressive familial heart block, type IB
- OMIM:140400 Progressive familial heart block, type II
- ORPHA:172 Progressive familial intrahepatic cholestasis
- ORPHA:100070 Progressive non-fluent aphasia
- ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- ORPHA:316 Progressive symmetric erythrokeratodermia
- ORPHA:2965 Prolactinoma
- OMIM:170100 Prolidase deficiency
- ORPHA:742 Prolidase deficiency
- OMIM:606054 Propionic acidemia
- ORPHA:35 Propionic acidemia
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- OMIM:618048 Proteasome-Associated autoinflammatory syndrome 2
- OMIM:617591 Proteasome-Associated autoinflammatory syndrome 3
- OMIM:619183 Proteasome-associated autoinflammatory syndrome 4
- OMIM:619175 Proteasome-associated autoinflammatory syndrome 5
- ORPHA:744 Proteus syndrome
- OMIM:176920 Proteus syndrome, somatic
- ORPHA:2969 Proteus-like syndrome
- ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia
- OMIM:177000 Protoporphyria, erythropoietic, 1
- ORPHA:261197 Proximal 16p11.2 microdeletion syndrome
- ORPHA:401768 Proximal myopathy with extrapyramidal signs
- ORPHA:47159 Proximal renal tubular acidosis
- OMIM:100100 Prune belly syndrome
- ORPHA:2970 Prune belly syndrome
- OMIM:264140 Prune belly syndrome with pulmonic stenosis, mental retardation, anddeafness
- ORPHA:544469 PRUNE1-related neurological syndrome
- ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy
- OMIM:618886 Pseudo-Torch syndrome 3
- ORPHA:221120 Pseudoaminopterin syndrome
- ORPHA:85174 Pseudodiastrophic dysplasia
- ORPHA:757 Pseudohypoaldosteronism type 2
- OMIM:177735 Pseudohypoaldosteronism, type I, autosomal dominant
- OMIM:264350 Pseudohypoaldosteronism, type I, autosomal recessive
- OMIM:145260 Pseudohypoaldosteronism, type II
- OMIM:614491 Pseudohypoaldosteronism, type IIB
- OMIM:614492 Pseudohypoaldosteronism, type IIC
- OMIM:614495 Pseudohypoaldosteronism, type IID
- OMIM:614496 Pseudohypoaldosteronism, type IIE
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:94090 Pseudohypoparathyroidism type 2
- ORPHA:26790 Pseudomyxoma peritonei
- 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
- OMIM:614204 Psoriasis 14, pustular
- OMIM:614501 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
- ORPHA:306498 PTEN hamartoma tumor syndrome
- ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- ORPHA:60025 Pulmonary alveolar microlithiasis
- OMIM:618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia
- ORPHA:2038 Pulmonary arteriovenous malformation
- OMIM:265150 Pulmonary atresia with intact ventricular septum
- OMIM:178370 Pulmonary atresia with ventricular septal defect
- ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome
- ORPHA:199241 Pulmonary capillary hemangiomatosis
- OMIM:178400 Pulmonary edema of mountaineers
- OMIM:614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
- OMIM:178500 Pulmonary fibrosis, idiopathic
- ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
- OMIM:178550 Pulmonary hemosiderosis
- OMIM:178600 Pulmonary hypertension, primary, 1
- OMIM:615342 Pulmonary hypertension, primary, 2
- OMIM:615343 Pulmonary hypertension, primary, 3
- OMIM:615344 Pulmonary hypertension, primary, 4
- OMIM:265400 Pulmonary hypertension, primary, autosomal recessive
- ORPHA:60026 Pulmonary nodular lymphoid hyperplasia
- ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection
- OMIM:265450 Pulmonary venoocclusive disease 1
- OMIM:234810 Pulmonary venoocclusive disease 2
- OMIM:265500 Pulmonic stenosis
- OMIM:178651 Pulmonic stenosis and deafness
- OMIM:178650 Pulmonic stenosis, atrial septal defect, and unique electrocardiographicabnormalities
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:441 Pure autonomic failure
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- OMIM:179000 Purpura simplex
- ORPHA:763 Pycnodysostosis
- ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- OMIM:604416 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
- ORPHA:764 Pyomyositis
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- ORPHA:2394 Pyruvate dehydrogenase E3 deficiency
- OMIM:266200 Pyruvate kinase deficiency of red cells
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:770 Rabies
- ORPHA:769 Rabson-Mendenhall syndrome
- ORPHA:70475 Radiation proctitis
- OMIM:619312 Radio-Tartaglia syndrome
- OMIM:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia
- OMIM:616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- 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:141184 Rapidly involuting congenital hemangioma
- ORPHA:98028 Rare circulatory system disease
- ORPHA:535 Rare cutaneous lupus erythematosus
- OMIM:614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic
- ORPHA:31205 Rat-bite fever
- OMIM:179600 Raynaud disease
- ORPHA:29207 Reactive arthritis
- ORPHA:94125 Recessive mitochondrial ataxia syndrome
- ORPHA:96167 Recombinant 8 syndrome
- OMIM:179613 Recombinant chromosome 8 syndrome
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- ORPHA:60032 Recurrent respiratory papillomatosis
- OMIM:179700 Red cell phospholipid defect with hemolysis
- ORPHA:98826 Refractory anemia
- ORPHA:86839 Refractory anemia with excess blasts
- ORPHA:398063 Refractory celiac disease
- OMIM:266500 Refsum disease
- ORPHA:773 Refsum disease
- ORPHA:91547 Relapsing fever
- ORPHA:728 Relapsing polychondritis
- ORPHA:411709 Renal agenesis
- ORPHA:1848 Renal agenesis, bilateral
- ORPHA:93108 Renal dysplasia
- OMIM:161900 Renal failure, progressive, with hypertension
- OMIM:191830 Renal hypodysplasia/aplasia 1
- ORPHA:93101 Renal hypoplasia
- ORPHA:97362 Renal hypoplasia, bilateral
- ORPHA:71273 Renal nutcracker syndrome
- OMIM:611590 Renal tubular acidosis, distal, with hemolytic anemia
- OMIM:267430 Renal tubular dysgenesis
- ORPHA:3033 Renal tubular dysgenesis
- OMIM:208540 Renal-hepatic-pancreatic dysplasia 1
- OMIM:615415 Renal-Hepatic-Pancreatic dysplasia 2
- ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema
- OMIM:309500 Renpenning syndrome
- ORPHA:494344 RERE-related neurodevelopmental syndrome
- ORPHA:1662 Restrictive dermopathy
- OMIM:275210 Restrictive dermopathy 1
- OMIM:267500 Reticular dysgenesia
- ORPHA:33355 Reticular dysgenesis
- OMIM:312500 Reticuloendotheliosis, X-linked
- OMIM:614224 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
- OMIM:180000 Retinal arteries, tortuosity of
- ORPHA:71213 Retinal capillary malformation
- OMIM:616188 Retinal dystrophy and obesity
- OMIM:615147 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
- OMIM:267900 Retinal telangiectasia and hypogammaglobulinemia
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- OMIM:180080 Retinal venous beading
- ORPHA:791 Retinitis pigmentosa
- OMIM:180100 Retinitis pigmentosa 1
- OMIM:180105 Retinitis pigmentosa 10
- OMIM:600105 Retinitis pigmentosa 12
- OMIM:600059 Retinitis pigmentosa 13
- OMIM:600132 Retinitis pigmentosa 14
- OMIM:601414 Retinitis pigmentosa 18
- OMIM:601718 Retinitis pigmentosa 19
- OMIM:613794 Retinitis pigmentosa 20
- OMIM:300424 Retinitis pigmentosa 23
- OMIM:602772 Retinitis pigmentosa 25
- OMIM:608380 Retinitis pigmentosa 26
- OMIM:612165 Retinitis pigmentosa 29
- OMIM:607921 Retinitis pigmentosa 30
- OMIM:609923 Retinitis pigmentosa 31
- OMIM:609913 Retinitis pigmentosa 32
- OMIM:610359 Retinitis pigmentosa 33
- OMIM:610599 Retinitis pigmentosa 36
- OMIM:613809 Retinitis pigmentosa 39
- OMIM:613731 Retinitis pigmentosa 4
- OMIM:613801 Retinitis pigmentosa 40
- OMIM:612095 Retinitis pigmentosa 41
- OMIM:613810 Retinitis pigmentosa 43
- OMIM:613769 Retinitis pigmentosa 44
- OMIM:612572 Retinitis pigmentosa 46
- OMIM:613756 Retinitis pigmentosa 49
- OMIM:613464 Retinitis pigmentosa 51
- OMIM:613428 Retinitis pigmentosa 54
- OMIM:613581 Retinitis pigmentosa 56
- OMIM:613582 Retinitis pigmentosa 57
- OMIM:613617 Retinitis pigmentosa 58
- OMIM:614180 Retinitis pigmentosa 61
- OMIM:614181 Retinitis pigmentosa 62
- OMIM:608133 Retinitis pigmentosa 7
- OMIM:615922 Retinitis pigmentosa 70
- OMIM:616394 Retinitis pigmentosa 71
- OMIM:616469 Retinitis pigmentosa 72
- OMIM:617023 Retinitis pigmentosa 75
- OMIM:617460 Retinitis pigmentosa 79
- OMIM:617781 Retinitis pigmentosa 80
- OMIM:618173 Retinitis pigmentosa 83
- OMIM:618220 Retinitis pigmentosa 84
- OMIM:618613 Retinitis pigmentosa 86
- OMIM:618826 Retinitis pigmentosa 88
- OMIM:618955 Retinitis pigmentosa 89
- OMIM:619007 Retinitis pigmentosa 90
- OMIM:620102 Retinitis pigmentosa 95
- OMIM:615434 Retinitis pigmentosa with or without situs inversus
- OMIM:250410 Retinitis pigmentosa with or without skeletal anomalies
- OMIM:613194 Retinitis pigmentosa-50
- ORPHA:52427 Retinitis punctata albescens
- ORPHA:790 Retinoblastoma
- OMIM:180200 RETINOBLASTOMA
- ORPHA:90050 Retinopathy of prematurity
- OMIM:180210 Retinopathy, pericentral pigmentary, dominant
- OMIM:312700 Retinoschisis 1, X-linked, juvenile
- OMIM:312750 Rett syndrome
- ORPHA:284388 Reversible cerebral vasoconstriction syndrome
- OMIM:613471 Reynolds syndrome
- ORPHA:779 Reynolds syndrome
- ORPHA:244310 RFT1-CDG
- ORPHA:71275 Rh deficiency syndrome
- ORPHA:69077 Rhabdoid tumor
- ORPHA:3099 Rheumatic fever
- OMIM:180300 Rheumatoid arthritis
- ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5
- OMIM:618821 Rhizomelic limb shortening with dysmorphic features
- OMIM:268250 Rhizomelic syndrome
- ORPHA:3098 Rhizomelic syndrome, Urbach type
- ORPHA:59315 Rhombencephalosynapsis
- ORPHA:97229 Riboflavin transporter deficiency
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- OMIM:208530 Right atrial isomerism (Ivemark)
- OMIM:610338 Right pulmonary artery, anomalous origin of, familial
- OMIM:277200 Right ventricular hypoplasia, isolated
- ORPHA:97244 Rigid spine syndrome
- OMIM:614498 Rigidity and multifocal seizure syndrome, lethal neonatal
- ORPHA:217335 RIN2 syndrome
- ORPHA:1439 Ring chromosome 12 syndrome
- ORPHA:1445 Ring chromosome 21 syndrome
- ORPHA:1449 Ring chromosome 7 syndrome
- OMIM:220210 Ritscher-Schinzel syndrome 1
- OMIM:300963 Ritscher-Schinzel syndrome 2
- OMIM:619135 Ritscher-Schinzel syndrome 3
- 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:616894 Robinow syndrome, autosomal dominant 3
- OMIM:268310 Robinow syndrome, autosomal recessive
- OMIM:618529 Robinow syndrome, autosomal recessive 2
- ORPHA:529 Roch-Leri mesosomatous lipomatosis
- OMIM:616651 Roifman syndrome
- ORPHA:353298 Roifman syndrome
- ORPHA:101016 Romano-Ward syndrome
- OMIM:180730 Rombo syndrome
- ORPHA:158014 Rosaï-Dorfman disease
- ORPHA:2909 Rothmund-Thomson syndrome
- OMIM:268400 Rothmund-Thomson syndrome
- ORPHA:221008 Rothmund-Thomson syndrome type 1
- ORPHA:221016 Rothmund-Thomson syndrome type 2
- ORPHA:783 Rubinstein-Taybi syndrome
- OMIM:180849 Rubinstein-Taybi syndrome 1
- 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
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:618804 Sandestig-Stefanova syndrome
- OMIM:268800 Sandhoff disease
- ORPHA:796 Sandhoff disease
- ORPHA:309155 Sandhoff disease, infantile form
- ORPHA:71272 Sandifer syndrome
- ORPHA:793 SAPHO 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
- OMIM:618150 Saul-Wilson syndrome
- OMIM:269000 Sc phocomelia syndrome
- OMIM:181270 Scalp-Ear-Nipple syndrome
- ORPHA:2036 Scalp-ear-nipple syndrome
- OMIM:300695 Scapuloperoneal myopathy, X-linked dominant
- ORPHA:449280 Scedosporiosis
- OMIM:607016 Scheie syndrome
- ORPHA:93474 Scheie syndrome
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:163200 Schimmelpenning-Feuerstein-Mims syndrome
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:63862 Schisis association
- ORPHA:37748 Schnitzler syndrome
- OMIM:615009 Schuurs-Hoeijmakers syndrome
- ORPHA:800 Schwartz-Jampel syndrome
- ORPHA:50944 Schöpf-Schulz-Passarge syndrome
- OMIM:600802 Scid, autosomal recessive, T-Negative/b-Positive type
- ORPHA:185 Scimitar syndrome
- ORPHA:801 Scleroderma
- OMIM:181750 Scleroderma, familial progressive
- ORPHA:167635 Scleromyxedema
- OMIM:617394 Sclerosing cholangitis, neonatal
- ORPHA:466677 Scorpion envenomation
- ORPHA:83317 Scrub typhus
- OMIM:269600 Sea-Blue histiocyte disease
- ORPHA:158029 Sea-blue histiocytosis
- OMIM:617253 Seckel syndrome 10
- OMIM:606744 Seckel syndrome 2
- OMIM:616777 Seckel syndrome 9
- ORPHA:90363 Secondary intestinal lymphangiectasia
- ORPHA:95427 Secondary short bowel syndrome
- ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome
- OMIM:612780 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome
- ORPHA:331235 Selective IgM deficiency
- ORPHA:220386 Semilobar holoprosencephaly
- OMIM:212350 Sengers syndrome
- ORPHA:84081 Senior-Boichis syndrome
- ORPHA:3156 Senior-Loken syndrome
- OMIM:616307 Senior-Loken syndrome 8
- ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy
- OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- ORPHA:90051 Sepsis in premature infants
- ORPHA:3157 Septo-optic dysplasia spectrum
- ORPHA:280195 Septopreoptic holoprosencephaly
- ORPHA:139466 SERKAL syndrome
- ORPHA:43116 Serotonin syndrome
- ORPHA:140896 Severe acute respiratory syndrome
- ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency
- ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency
- OMIM:602450 Severe combined immunodeficiency with sensitivity to ionizing radiation
- OMIM:102700 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- OMIM:601457 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- OMIM:608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
- OMIM:300400 Severe combined immunodeficiency, X-linked
- ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts
- ORPHA:364055 Severe early-childhood-onset retinal dystrophy
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency
- ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency
- ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy
- ORPHA:2715 Severe oculo-renal-cerebellar syndrome
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- ORPHA:3162 Sézary syndrome
- OMIM:617190 Shashi-Pena syndrome
- ORPHA:91355 Sheehan syndrome
- ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome
- ORPHA:810 Shigellosis
- ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency
- ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome
- OMIM:609620 Short QT syndrome 1
- OMIM:609621 Short QT syndrome 2
- OMIM:609622 Short QT syndrome 3
- ORPHA:1505 Short rib-polydactyly syndrome
- OMIM:615503 Short rib-polydactyly syndrome, type VI
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- OMIM:609654 Short stature and facioauriculothoracic malformations
- OMIM:617044 Short stature, developmental delay, and congenital heart defects
- OMIM:619184 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
- ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome
- ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome
- ORPHA:2865 Short stature-webbed neck-heart disease syndrome
- ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome
- OMIM:208500 Short-Rib thoracic dysplasia 1 with or without polydactyly
- OMIM:615630 Short-Rib thoracic dysplasia 10 with or without polydactyly
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:616300 Short-Rib thoracic dysplasia 13 with or without polydactyly
- OMIM:616546 Short-Rib thoracic dysplasia 14 with polydactyly
- OMIM:617088 Short-rib thoracic dysplasia 15 with polydactyly
- OMIM:617895 Short-Rib thoracic dysplasia 19 with or without polydactyly
- OMIM:617925 Short-Rib thoracic dysplasia 20 with polydactyly
- OMIM:614376 Short-Rib thoracic dysplasia 5 with or without polydactyly
- OMIM:263520 Short-Rib thoracic dysplasia 6 with or without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- OMIM:182210 Shprintzen omphalocele syndrome
- OMIM:182212 Shprintzen-Goldberg craniosynostosis syndrome
- ORPHA:2462 Shprintzen-Goldberg syndrome
- ORPHA:811 Shwachman-Diamond syndrome
- OMIM:260400 Shwachman-Diamond syndrome 1
- ORPHA:812 Sialidosis type 1
- ORPHA:87876 Sialidosis type 2
- OMIM:269921 Sialuria
- ORPHA:3166 Sialuria
- OMIM:608567 Sick sinus syndrome 1
- OMIM:163800 Sick sinus syndrome 2
- OMIM:614090 Sick sinus syndrome 3
- OMIM:619464 Sick sinus syndrome 4
- OMIM:603903 Sickle cell anemia
- ORPHA:232 Sickle cell anemia
- OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- OMIM:617159 Sifrim-Hitz-Weiss syndrome
- ORPHA:813 Silver-Russell syndrome
- OMIM:180860 Silver-Russell syndrome 1
- OMIM:616489 Silver-Russell syndrome 3
- ORPHA:397590 Silver-Russell syndrome due to a point mutation
- ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- ORPHA:91139 Simple cryoglobulinemia
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- OMIM:182250 Singleton-Merten syndrome 1
- OMIM:616298 Singleton-Merten syndrome 2
- OMIM:614896 Sinoatrial node dysfunction and deafness
- OMIM:182190 Sinus node disease and myopia
- ORPHA:3169 Sirenomelia
- OMIM:210250 Sitosterolemia 1
- OMIM:618666 Sitosterolemia 2
- OMIM:270150 Sjogren syndrome
- ORPHA:816 Sjögren-Larsson syndrome
- OMIM:602613 Skeletal dysplasia and progressive central nervous system degeneration, lethal
- OMIM:618870 Skeletal dysplasia, mild, with joint laxity and advanced bone age
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- OMIM:156610 Skin creases, congenital symmetric circumferential, 1
- OMIM:607655 Skin fragility-woolly hair syndrome
- ORPHA:238459 SLC35A1-CDG
- ORPHA:356961 SLC35A2-CDG
- ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:818 Smith-Lemli-Opitz syndrome
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:182290 Smith-Magenis syndrome
- ORPHA:449285 Snakebite envenomation
- ORPHA:820 Sneddon syndrome
- OMIM:182410 Sneddon syndrome
- ORPHA:97230 Solar urticaria
- ORPHA:209964 Solitary rectal ulcer syndrome
- OMIM:109270 Solute carrier family 4 (anion exchanger), member 1
- ORPHA:314769 Somatomammotropinoma
- ORPHA:97283 Somatostatinoma
- OMIM:270460 Sonoda syndrome
- ORPHA:821 Sotos syndrome
- OMIM:117550 Sotos syndrome
- OMIM:618768 Spastic paraplegia 81, autosomal recessive
- ORPHA:99015 Spastic paraplegia type 2
- ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome
- ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:1519 SPECC1L-related hypertelorism syndrome
- OMIM:182900 Spherocytosis, type 1
- OMIM:616649 Spherocytosis, type 2
- OMIM:612653 Spherocytosis, type 4
- OMIM:612690 Spherocytosis, type 5
- ORPHA:53721 Spinal arteriovenous metameric syndrome
- OMIM:616866 Spinal muscular atrophy with congenital bone fractures 1
- OMIM:616867 Spinal muscular atrophy with congenital bone fractures 2
- ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- ORPHA:1955 Spinocerebellar ataxia type 34
- OMIM:606002 Spinocerebellar ataxia, autosomal recessive 1
- OMIM:616354 Spinocerebellar ataxia, autosomal recessive 20
- OMIM:616719 Spinocerebellar ataxia, autosomal recessive 21
- OMIM:616949 Spinocerebellar ataxia, autosomal recessive 23
- ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome
- OMIM:183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T-HELPER CELLS
- OMIM:614979 Splenomegaly, cytopenia, and vision loss
- OMIM:271500 Splenoportal vascular anomalies
- ORPHA:573278 Split cord malformation
- OMIM:183600 Split-Hand/foot malformation 1
- ORPHA:93357 SPONASTRIME dysplasia
- ORPHA:85194 Spondylo-ocular syndrome
- OMIM:106300 Spondyloarthropathy, susceptibility to, 1
- OMIM:613686 Spondylocostal dysostosis 4, autosomal recessive
- OMIM:271520 Spondylocostal dysostosis with anal atresia and urogenital anomalies
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity
- OMIM:271640 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- OMIM:602557 Spondyloepimetaphyseal dysplasia, Shohat type
- ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type
- OMIM:143095 Spondyloepiphyseal dysplasia with congenital joint dislocations
- OMIM:619260 Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
- OMIM:618961 Spondylometaphyseal dysplasia with corneal dystrophy
- OMIM:602271 Spondylometaphyseal dysplasia, axial
- OMIM:613320 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
- OMIM:250220 Spondylometaphyseal dysplasia, Sedaghatian type
- ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type
- OMIM:605822 Spondyloocular syndrome
- ORPHA:29822 Spontaneous periodic hypothermia
- ORPHA:1665 Sporadic fetal brain disruption sequence
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- OMIM:618156 Squalene synthase deficiency
- ORPHA:424019 Squamous cell carcinoma of the anal canal
- ORPHA:99977 Squamous cell carcinoma of the esophagus
- ORPHA:324737 SRD5A3-CDG
- ORPHA:370927 SSR4-CDG
- ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- OMIM:617516 Stankiewicz-Isidor syndrome
- ORPHA:36238 Staphylococcal necrotizing pneumonia
- OMIM:184705 Steinfeld syndrome
- ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- ORPHA:36426 Stevens-Johnson syndrome
- ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- OMIM:611961 Stevenson-Carey syndrome
- ORPHA:828 Stickler syndrome
- ORPHA:90653 Stickler syndrome type 1
- OMIM:108300 Stickler syndrome, type I
- ORPHA:2833 Stiff skin syndrome
- OMIM:184900 Stiff skin syndrome
- OMIM:184850 Stiff-Person syndrome
- OMIM:615934 STING-associated vasculopathy, infantile-onset
- OMIM:608885 Stomatin-Deficient cryohydrocytosis with neurologic defects
- OMIM:185069 Storm syndrome
- OMIM:185070 Stormorken syndrome
- ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome
- OMIM:243605 Stromme syndrome
- OMIM:617478 Structural heart defects and renal anomalies syndrome
- OMIM:185300 Sturge-Weber syndrome
- ORPHA:3205 Sturge-Weber syndrome
- OMIM:601559 Stuve-Wiedemann syndrome
- OMIM:619751 Stuve-Wiedemann syndrome 2
- OMIM:271950 Subaortic stenosis, membranous
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- ORPHA:48377 Subcorneal pustular dermatosis
- ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma
- OMIM:617223 Sudden cardiac failure, alcohol-induced
- OMIM:617222 Sudden cardiac failure, infantile
- OMIM:608800 Sudden infant death with dysgenesis of the testes syndrome
- ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome
- OMIM:618950 Suleiman-El-Hattab syndrome
- ORPHA:57145 SUNCT syndrome
- ORPHA:455 Superficial epidermolytic ichthyosis
- ORPHA:247245 Superficial siderosis
- OMIM:185500 Supravalvular aortic stenosis
- ORPHA:3193 Supravalvular aortic stenosis
- OMIM:265120 Surfactant metabolism dysfunction, pulmonary, 1
- OMIM:610913 Surfactant metabolism dysfunction, pulmonary, 2
- OMIM:617746 Sweeney-Cox syndrome
- ORPHA:3243 Sweet syndrome
- ORPHA:306731 Sydenham chorea
- ORPHA:1314 Symmetrical thalamic calcifications
- ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers
- ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- ORPHA:98915 Synaptic congenital myasthenic syndromes
- OMIM:609289 Syncope, familial vasovagal
- ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:84064 Syndromic diarrhea
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:188 Systemic capillary leak syndrome
- OMIM:152700 Systemic lupus erythematosus
- OMIM:301080 Systemic lupus erythematosus 17
- OMIM:609939 Systemic lupus erythematosus, susceptibility to, 6
- ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm
- ORPHA:90291 Systemic sclerosis
- ORPHA:85414 Systemic-onset juvenile idiopathic arthritis
Code pathologie
Nom de la pathologie
- ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
- ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency
- ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency
- OMIM:614868 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS
- OMIM:618398 T-cell lymphoma, subcutaneous panniculitis-like
- OMIM:615387 T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
- OMIM:207600 Takayasu arteritis
- ORPHA:3287 Takayasu arteritis
- OMIM:616737 Takenouchi-Kosaki syndrome
- ORPHA:66529 Tako-Tsubo cardiomyopathy
- ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome
- OMIM:205400 Tangier disease
- ORPHA:31150 Tangier disease
- OMIM:311900 Tarp syndrome
- ORPHA:2886 TARP syndrome
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- OMIM:615879 Tatton-Brown-Rahman syndrome
- ORPHA:845 Tay-Sachs disease
- OMIM:272800 Tay-Sachs disease
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:145420 Teebi hypertelorism syndrome 1
- OMIM:272950 Teebi-Shaltout syndrome
- OMIM:187260 Telangiectasia, hereditary benign
- OMIM:187300 Telangiectasia, hereditary hemorrhagic, type 1
- OMIM:600376 Telangiectasia, hereditary hemorrhagic, type 2
- OMIM:610655 Telangiectasia, hereditary hemorrhagic, type 4
- OMIM:615506 Telangiectasia, hereditary hemorrhagic, type 5
- ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder
- ORPHA:284227 TEMPI syndrome
- ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion
- OMIM:611816 Temple-Baraitser syndrome
- OMIM:187360 Temporal arteritis
- OMIM:218340 Temtamy syndrome
- ORPHA:1777 Temtamy syndrome
- OMIM:616260 Tenorio syndrome
- ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome
- OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- OMIM:619951 Tessadori-van Haaften neurodevelopmental syndrome 4
- OMIM:615542 Testicular anomalies with or without congenital heart disease
- ORPHA:3299 Tetanus
- OMIM:618021 Tetraamelia syndrome 2
- OMIM:273395 Tetraamelia, autosomal recessive
- OMIM:187500 Tetralogy of Fallot
- ORPHA:3303 Tetralogy of Fallot
- OMIM:187501 Tetralogy of Fallot and glaucoma
- OMIM:273400 Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities
- ORPHA:3305 Tetraploidy
- ORPHA:3307 Tetrasomy 18p
- ORPHA:3309 Tetrasomy 5p
- ORPHA:3310 Tetrasomy 9p
- ORPHA:9 Tetrasomy X
- ORPHA:1780 Thakker-Donnai syndrome
- OMIM:603902 Thalassemia-beta, dominant inclusion-body
- ORPHA:3312 Thalidomide embryopathy
- ORPHA:2655 Thanatophoric dysplasia
- ORPHA:1860 Thanatophoric dysplasia type 1
- ORPHA:93274 Thanatophoric dysplasia type 2
- OMIM:273680 Thanatophoric dysplasia, glasgow variant
- OMIM:617107 Thauvin-Robinet-Faivre syndrome
- OMIM:614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
- ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome
- OMIM:249270 Thiamine-Responsive megaloblastic anemia syndrome
- ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- ORPHA:3316 Thomas syndrome
- ORPHA:97330 Thoracic outlet syndrome
- ORPHA:1759 Thoraco-abdominal enteric duplication
- OMIM:313850 Thoracoabdominal syndrome
- OMIM:187950 Thrombocythemia 1
- OMIM:614521 Thrombocythemia 3
- OMIM:313900 Thrombocytopenia 1
- OMIM:188000 Thrombocytopenia 2
- OMIM:273900 Thrombocytopenia 3
- OMIM:616216 Thrombocytopenia 5
- OMIM:314050 Thrombocytopenia with beta-thalassemia, X-linked
- OMIM:617441 Thrombocytopenia, anemia, and myelofibrosis
- OMIM:300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- OMIM:301071 Thrombophilia 13, X-linked, due to factor VIII defect
- OMIM:612304 Thrombophilia due to protein C deficiency, autosomal recessive
- OMIM:614514 Thrombophilia due to protein S deficiency, autosomal recessive
- OMIM:614486 Thrombophilia due to thrombomodulin defect
- OMIM:176860 Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant
- OMIM:612336 Thrombophilia, hereditary, due to protein S deficiency, autosomal
- OMIM:188050 Thrombophiliavenous thromboembolism, included
- ORPHA:54057 Thrombotic thrombocytopenic purpura
- OMIM:274150 Thrombotic thrombocytopenic purpura, hereditary
- OMIM:274190 Thumb agenesis, short stature, and immunodeficiency
- OMIM:188100 Thumb deformity
- ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome
- ORPHA:83471 Thymic aplasia
- ORPHA:99868 Thymic carcinoma
- ORPHA:97289 Thymic neuroendocrine tumor
- ORPHA:100100 Thymic tumor
- ORPHA:99867 Thymoma
- OMIM:274230 Thymoma, familial
- ORPHA:97285 Thyroid lymphoma
- ORPHA:79102 Thyrotoxic periodic paralysis
- OMIM:188580 Thyrotoxic periodic paralysis, susceptibility to, 1
- OMIM:613239 Thyrotoxic periodic paralysis, susceptibility to, 2
- ORPHA:609 Tibial muscular dystrophy
- OMIM:600334 Tibial muscular dystrophy, tardive
- ORPHA:297 Tick-borne encephalitis
- OMIM:601005 Timothy syndrome
- ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy
- OMIM:300707 Toe syndactyly, telecanthus, and anogenital and renal malformations
- OMIM:618971 Tolchin-Le Caignec syndrome
- OMIM:300978 Tonne-Kalscheuer syndrome
- ORPHA:3339 Toriello-Lacassie-Droste syndrome
- OMIM:314300 Torticollis, keloids, cryptorchidism, and renal dysplasia
- OMIM:106700 Total anomalous pulmonary venous return 1
- ORPHA:857 Townes-Brocks syndrome
- OMIM:107480 Townes-Brocks syndrome 1
- ORPHA:537 Toxic epidermal necrolysis
- ORPHA:3346 Tracheal agenesis
- OMIM:606003 Transaldolase deficiency
- ORPHA:101028 Transaldolase deficiency
- ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma
- ORPHA:99886 Transient neonatal diabetes mellitus
- ORPHA:488618 Transketolase deficiency
- OMIM:608808 Transposition of the great arteries, dextro-looped 1
- ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18
- OMIM:154500 Treacher Collins syndrome 1
- ORPHA:861 Treacher-Collins syndrome
- ORPHA:863 Trichinellosis
- OMIM:222470 Trichohepatoenteric syndrome 1
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- ORPHA:502 Trichorhinophalangeal syndrome type 2
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:234050 Trichothiodystrophy 4, nonphotosensitive
- OMIM:300953 Trichothiodystrophy 5, nonphotosensitive
- ORPHA:1209 Tricuspid atresia
- ORPHA:221091 Trigeminal neuralgia
- OMIM:314320 Trigonocephaly with short stature and developmental delay
- ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome
- OMIM:602079 Trimethylaminuria
- OMIM:618805 Triokinase and FMN cyclase deficiency syndrome
- ORPHA:868 Triose phosphate-isomerase deficiency
- OMIM:615512 Triosephosphate isomerase deficiency
- ORPHA:3376 Triploidy
- ORPHA:171929 Trisomy 10p
- ORPHA:1699 Trisomy 12p
- ORPHA:3378 Trisomy 13
- ORPHA:261290 Trisomy 17p
- ORPHA:3380 Trisomy 18
- OMIM:601161 Trisomy 18-like syndrome
- ORPHA:1715 Trisomy 18p
- ORPHA:261344 Trisomy 1q
- ORPHA:261318 Trisomy 20p
- ORPHA:1738 Trisomy 4p
- ORPHA:264450 Trisomy 8p
- ORPHA:1752 Trisomy 8q
- ORPHA:75565 Tropical endomyocardial fibrosis
- ORPHA:3384 Truncus arteriosus
- OMIM:276100 Tryptophanuria with dwarfism
- ORPHA:91347 TSH-secreting pituitary adenoma
- ORPHA:805 Tuberous sclerosis complex
- OMIM:191100 Tuberous sclerosis-1
- OMIM:613254 Tuberous sclerosis-2
- OMIM:174000 Tubulointerstitial kidney disease, autosomal dominant, 2
- OMIM:617056 Tubulointerstitial kidney disease, autosomal dominant, 5
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- ORPHA:1063 Tufted angioma
- OMIM:191150 Tuftsin deficiency
- ORPHA:3392 Tularemia
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:211900 Tumoral calcinosis, hyperphosphatemic, familial, 1
- OMIM:610455 Tumoral calcinosis, normophosphatemic, familial
- ORPHA:99818 Turcot syndrome with polyposis
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:618371 Turnpenny-Fry syndrome
- OMIM:238600 Type I hyperlipoproteinemia
- ORPHA:99745 Typhoid
- ORPHA:882 Tyrosinemia type 1
- OMIM:276700 Tyrosinemia, type I
- OMIM:615102 Tyshchenko syndrome
Code pathologie
Nom de la pathologie
- ORPHA:3404 Ulbright-Hodes syndrome
- ORPHA:3406 Ulerythema ophryogenesis
- OMIM:276822 Ulnar agenesis and endocardial fibroelastosis
- ORPHA:3138 Ulnar-mammary syndrome
- OMIM:181450 Ulnar-Mammary syndrome
- ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome
- ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome
- ORPHA:268943 Unilateral polymicrogyria
- ORPHA:488 Urachal cyst
- OMIM:191850 Urticaria, aquagenic
- OMIM:191950 Urticaria, familial localized heat
- OMIM:300280 Uruguay faciocardiomusculoskeletal syndrome
- ORPHA:886 Usher syndrome
- OMIM:618632 Usher syndrome, type 1M
- OMIM:619548 Usmani-Riazuddin syndrome, autosomal recessive
- OMIM:600630 UV-sensitive syndrome 1
- OMIM:614640 UV-sensitive syndrome 3
- ORPHA:39044 Uveal melanoma
Code pathologie
Nom de la pathologie
- OMIM:276950 Vacterl association with hydrocephalus
- OMIM:314390 VACTERL association, X-linked
- ORPHA:3412 VACTERL with hydrocephalus
- ORPHA:887 VACTERL/VATER association
- OMIM:600920 Van den Ende-Gupta syndrome
- OMIM:301030 Van Esch-O'Driscoll syndrome
- ORPHA:314652 Variant ABeta2M amyloidosis
- OMIM:192200 Varicose veins
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:277175 Vascular hyalinosis
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192310 Vasculitis, lymphocytic, nodular
- OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy
- OMIM:192350 Vater associationvacterl association, included
- ORPHA:1053 Vein of Galen aneurysmal malformation
- OMIM:192430 Velocardiofacial syndrome
- OMIM:600195 Venous malformations, multiple cutaneous and mucosal
- OMIM:115000 Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
- ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
- OMIM:192445 Ventricular extrasystoles with syncope, perodactyly, and Robin sequence
- OMIM:603829 Ventricular fibrillation, familial, 1
- OMIM:612956 Ventricular fibrillation, paroxysmal familial, 2
- OMIM:614429 Ventricular septal defect 1
- OMIM:614431 Ventricular septal defect 2
- OMIM:614432 Ventricular septal defect 3
- OMIM:604772 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy
- OMIM:611938 Ventricular tachycardia, catecholaminergic polymorphic, 2
- OMIM:614021 Ventricular tachycardia, catecholaminergic polymorphic, 3
- OMIM:614916 Ventricular tachycardia, catecholaminergic polymorphic, 4
- OMIM:615441 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
- OMIM:192605 Ventricular tachycardia, familial
- OMIM:219730 Ventriculomegaly with cystic kidney disease
- OMIM:602200 Ventriculomegaly with defects of the radius and kidney
- OMIM:192700 Venular insufficiency, systemic
- OMIM:615583 Verheij syndrome
- ORPHA:3429 Verloove Vanhorick-Brubakk syndrome
- ORPHA:464318 Verrucous hemangioma
- OMIM:618223 Vertebral anomalies and variable endocrine and T-cell dysfunction
- OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1
- OMIM:617661 Vertebral, cardiac, renal, and limb defects syndrome 2
- OMIM:618845 Vertebral, cardiac, renal, and limb defects syndrome 3
- OMIM:619227 Vertebral, cardiac, tracheoesophageal, renal, and limb defects
- OMIM:617982 Ververi-Brady syndrome
- ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency
- OMIM:201475 Very long-chain acyl-CoA dehydrogenase deficiency
- OMIM:301054 VEXAS syndrome, somatic
- OMIM:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- ORPHA:97282 VIPoma
- OMIM:277320 Visceral myopathy, familial, with external ophthalmoplegia
- OMIM:228100 Visceral steatosis, congenital
- OMIM:619472 VISS syndrome
- ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia
- ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-
- ORPHA:1914 Vitamin K antagonist embryofetopathy
- OMIM:277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
- OMIM:193220 Vitreoretinochoroidopathy
- OMIM:193235 Vitreoretinopathy, neovascular inflammatory
- ORPHA:892 Von Hippel-Lindau disease
- OMIM:193300 von Hippel-Lindau syndrome
- ORPHA:903 Von Willebrand disease
- OMIM:193400 Von willebrand disease, type 1
- OMIM:613554 Von willebrand disease, type 2
- OMIM:277480 Von willebrand disease, type 3
- ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:83453 Vulvovaginal gingival syndrome
- OMIM:193450 Vulvovaginitis, allergic seminal
Code pathologie
Nom de la pathologie
- ORPHA:894 Waardenburg syndrome type 1
- ORPHA:895 Waardenburg syndrome type 2
- ORPHA:896 Waardenburg syndrome type 3
- OMIM:611584 Waardenburg syndrome, type 2E
- OMIM:612469 WAGRO syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- OMIM:618175 Warburg-Cinotti syndrome
- ORPHA:572798 WARS2-related combined oxidative phosphorylation defect
- OMIM:613398 Warsaw breakage syndrome
- OMIM:193520 Watson syndrome
- ORPHA:3447 Weaver syndrome
- OMIM:277590 Weaver syndrome
- ORPHA:3449 Weill-Marchesani syndrome
- OMIM:277600 Weill-Marchesani syndrome 1
- OMIM:608328 Weill-Marchesani syndrome 2, dominant
- OMIM:614819 Weill-Marchesani syndrome 3
- OMIM:618619 Weiss-Kruszka syndrome
- ORPHA:901 Wells syndrome
- ORPHA:902 Werner syndrome
- OMIM:277700 Werner syndrome
- ORPHA:51636 WHIM syndrome
- OMIM:619407 WHIM syndrome 2
- ORPHA:3452 Whipple disease
- ORPHA:2475 White forelock with malformations
- OMIM:277740 White forelock with malformations
- OMIM:616364 White-Sutton syndrome
- ORPHA:468678 White-Sutton syndrome
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:85446 Wild type ABeta2M amyloidosis
- ORPHA:330001 Wild type ATTR amyloidosis
- ORPHA:904 Williams syndrome
- OMIM:609757 Williams-Beuren region duplication syndrome
- OMIM:194050 Williams-Beuren syndrome
- ORPHA:905 Wilson disease
- OMIM:277900 Wilson disease
- ORPHA:906 Wiskott-Aldrich syndrome
- OMIM:301000 Wiskott-Aldrich syndrome
- OMIM:600903 Wiskott-Aldrich syndrome, autosomal dominant form
- OMIM:613406 Witteveen-Kolk syndrome
- ORPHA:1667 Wolcott-Rallison syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:280 Wolf-Hirschhorn syndrome
- OMIM:194200 Wolff-Parkinson-White syndrome
- ORPHA:3463 Wolfram syndrome
- OMIM:222300 Wolfram syndrome 1
- ORPHA:75233 Wolman disease
- ORPHA:3464 Woodhouse-Sakati syndrome
- OMIM:241080 Woodhouse-Sakati syndrome
- OMIM:615236 Woods syndrome
- ORPHA:178475 Wound botulism
- OMIM:278250 Wrinkly skin syndrome
- ORPHA:2834 Wrinkly skin syndrome
- ORPHA:53719 Wyburn-Mason syndrome
Code pathologie
Nom de la pathologie
- ORPHA:96201 X small rings
- ORPHA:300373 X-linked acrogigantism
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:75497 X-linked Ehlers-Danlos syndrome
- ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:181 X-linked hypohidrotic ectodermal dysplasia
- ORPHA:85276 X-linked intellectual disability, Armfield type
- ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type
- ORPHA:93952 X-linked intellectual disability, Hedera type
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:85323 X-linked intellectual disability, Seemanova type
- ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome
- ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome
- ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome
- ORPHA:452 X-linked lissencephaly with abnormal genitalia
- ORPHA:2442 X-linked lymphoproliferative disease
- ORPHA:1131 X-linked mandibulofacial dysostosis
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:1852 X-linked retinal dysplasia
- ORPHA:75563 X-linked sideroblastic anemia
- ORPHA:910 Xeroderma pigmentosum
- ORPHA:90342 Xeroderma pigmentosum variant
- OMIM:278700 Xeroderma pigmentosum, complementation group A
- OMIM:278720 Xeroderma pigmentosum, complementation group C
- OMIM:278730 Xeroderma pigmentosum, complementation group D
- OMIM:278740 Xeroderma pigmentosum, complementation group E
- OMIM:278760 Xeroderma pigmentosum, complementation group F
- OMIM:278750 Xeroderma pigmentosum, Variant type
- ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex
- OMIM:610965 XFE progeroid syndrome
- ORPHA:3469 XK aprosencephaly syndrome
- ORPHA:1435 Xq21 microdeletion syndrome
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- OMIM:619648 Zaki syndrome
- ORPHA:217017 Zechi-Ceide syndrome
- ORPHA:912 Zellweger syndrome
- ORPHA:448237 Zika virus disease
- ORPHA:3473 Zimmermann-Laband syndrome
- OMIM:135500 Zimmermann-Laband syndrome 1
- OMIM:618658 Zimmermann-Laband syndrome 3
- ORPHA:913 Zollinger-Ellison syndrome
- OMIM:617140 Zttk syndrome
- OMIM:280000 Zunich neuroectodermal syndrome
Gènes associés :
- #
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
Nom du gène
- AAAS
- AARS2
- AASS
- ABCA1
- ABCA12
- ABCA3
- ABCA4
- ABCB11
- ABCB4
- ABCB6
- ABCC8
- ABCC9
- ABCD3
- ABCD4
- ABCG5
- ABCG8
- ABHD5
- ABL1
- ACAD8
- ACAD9
- ACADM
- ACADS
- ACADVL
- ACAT1
- ACD
- ACE
- ACP5
- ACSL4
- ACTA1
- ACTA2
- ACTB
- ACTC1
- ACTG1
- ACTG2
- ACTN2
- ACTN4
- ACVR2B
- ACVRL1
- ADA
- ADA2
- ADAM17
- ADAMTS10
- ADAMTS13
- ADAMTS19
- ADAMTS2
- ADAMTS3
- ADAMTSL1
- ADAMTSL2
- ADAMTSL4
- ADAR
- ADAT3
- ADCY5
- ADD1
- ADGRE2
- ADH5
- ADK
- ADNP
- ADORA2A
- AEBP1
- AFF4
- AGA
- AGBL5
- AGGF1
- AGK
- AGL
- AGO2
- AGPAT2
- AGT
- AGTR1
- AGXT
- AHCY
- AHI1
- AHR
- AICDA
- AIP
- AIPL1
- AIRE
- AK2
- AKAP9
- AKR1D1
- AKT1
- AKT2
- AKT3
- ALAS2
- ALB
- ALDH18A1
- ALDH1A2
- ALDH3A2
- ALDOA
- ALDOB
- ALG1
- ALG10B
- ALG12
- ALG14
- ALG2
- ALG3
- ALG5
- ALG8
- ALG9
- ALKBH8
- ALMS1
- ALOX12B
- ALOX5AP
- ALOXE3
- ALPK1
- ALPK3
- ALPL
- ALX1
- ALX3
- ALX4
- AMACR
- AMER1
- AMMECR1
- AMN
- ANAPC1
- ANAPC7
- ANGPT1
- ANGPTL6
- ANK1
- ANK2
- ANKRD1
- ANKRD11
- ANKRD26
- ANKRD55
- ANKS6
- ANO10
- ANO5
- ANOS1
- ANTXR1
- ANTXR2
- AP1B1
- AP1G1
- AP1S1
- AP3B1
- AP3D1
- APC
- APC2
- APOA1
- APOA2
- APOA5
- APOB
- APOC2
- APOC3
- APOE
- APP
- APRT
- AQP2
- AQP5
- ARCN1
- ARF1
- ARFGEF2
- ARHGAP31
- ARHGEF18
- ARID1A
- ARID1B
- ARID2
- ARL13B
- ARL2BP
- ARL3
- ARL6
- ARL6IP6
- ARMC5
- ARMC9
- ARNT2
- ARPC1B
- ARPC4
- ARSA
- ARSB
- ARSK
- ARSL
- ARVCF
- ASAH1
- ASCC1
- ASS1
- ASXL1
- ASXL2
- ATAD3A
- ATF6
- ATIC
- ATM
- ATOH7
- ATP11A
- ATP13A3
- ATP1A2
- ATP1A3
- ATP1B1
- ATP2B1
- ATP2C1
- ATP5F1A
- ATP5F1D
- ATP5F1E
- ATP5MK
- ATP6AP1
- ATP6AP2
- ATP6V0A2
- ATP6V1A
- ATP6V1B2
- ATP6V1E1
- ATP7A
- ATP7B
- ATP8B1
- ATR
- ATRX
- AUTS2
- AVPR2
Nom du gène
- B2M
- B3GALT6
- B3GAT3
- B3GLCT
- B4GALT1
- B4GALT7
- B9D1
- B9D2
- BACH2
- BAG3
- BAG5
- BANF1
- BAP1
- BAZ1B
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BCAS3
- BCHE
- BCL10
- BCL11A
- BCL11B
- BCL2
- BCL6
- BCL7B
- BCOR
- BCR
- BCS1L
- BEST1
- BGN
- BICC1
- BICRA
- BIN1
- BIRC3
- BLM
- BLNK
- BLOC1S3
- BLOC1S5
- BLTP1
- BMP2
- BMP6
- BMPR1A
- BMPR2
- BNC2
- BOLA3
- BPGM
- BPTF
- BRAF
- BRAT1
- BRCA1
- BRCA2
- BRCC3
- BRD4
- BRF1
- BRIP1
- BSCL2
- BSND
- BTD
- BTK
- BTNL2
- BUB1
- BUB1B
- BUB3
- BUD23
- BVES
Nom du gène
- C12orf57
- C1QBP
- C1R
- C1S
- C2
- C2CD3
- C3
- C4A
- CA2
- CA4
- CACNA1C
- CACNA1D
- CACNA1H
- CACNA1S
- CACNA2D1
- CACNB2
- CADM3
- CALCRL
- CALM1
- CALM2
- CALM3
- CALR
- CAMK2A
- CANT1
- CAP2
- CAPN15
- CAPN5
- CARD11
- CARD9
- CARMIL2
- CARS1
- CASK
- CASP10
- CASP8
- CASQ2
- CASR
- CASZ1
- CAT
- CAV1
- CAV3
- CAVIN1
- CBL
- CBS
- CBY1
- CC2D2A
- CCBE1
- CCDC103
- CCDC115
- CCDC141
- CCDC174
- CCDC22
- CCDC28B
- CCDC32
- CCDC39
- CCDC40
- CCDC47
- CCDC65
- CCDC8
- CCM2
- CCN2
- CCND1
- CCND2
- CCNO
- CCNQ
- CCR1
- CCR6
- CD109
- CD19
- CD244
- CD247
- CD27
- CD28
- CD2AP
- CD3D
- CD3E
- CD40
- CD40LG
- CD46
- CD55
- CD70
- CD79A
- CD79B
- CD81
- CD96
- CDAN1
- CDC42
- CDC42BPB
- CDC45
- CDC73
- CDH2
- CDH23
- CDHR1
- CDIN1
- CDK10
- CDK13
- CDK4
- CDK8
- CDKL5
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2A
- CDKN2B
- CDKN2C
- CDON
- CELA2A
- CELSR1
- CENPE
- CENPF
- CEP104
- CEP120
- CEP164
- CEP19
- CEP290
- CEP41
- CEP57
- CERKL
- CETP
- CFAP221
- CFAP298
- CFAP300
- CFAP410
- CFAP418
- CFAP45
- CFAP52
- CFAP53
- CFB
- CFC1
- CFH
- CFHR1
- CFHR3
- CFI
- CFTR
- CHCHD2
- CHD4
- CHD7
- CHKB
- CHM
- CHMP1A
- CHMP2B
- CHN1
- CHRM3
- CHRNA1
- CHRNA3
- CHRNA7
- CHRND
- CHRNG
- CHST14
- CHST3
- CHST8
- CHUK
- CIB1
- CIC
- CIDEC
- CIITA
- CIROP
- CISD2
- CITED2
- CIZ1
- CKAP2L
- CLCC1
- CLCF1
- CLCN2
- CLCN3
- CLCN6
- CLCN7
- CLCNKA
- CLCNKB
- CLDN1
- CLEC7A
- CLIC2
- CLIP2
- CLN3
- CLPB
- CLRN1
- CNGA1
- CNGA3
- CNGB1
- CNGB3
- CNNM4
- COA5
- COA6
- COA8
- COG1
- COG4
- COG5
- COG6
- COG7
- COG8
- COL11A1
- COL17A1
- COL18A1
- COL1A1
- COL1A2
- COL25A1
- COL2A1
- COL3A1
- COL4A1
- COL4A2
- COL4A3
- COL4A4
- COL4A5
- COL5A1
- COL5A2
- COL6A1
- COL6A2
- COL6A3
- COL7A1
- COLGALT1
- COLQ
- COMT
- COPA
- COQ2
- COQ4
- COQ7
- COQ9
- CORIN
- COX10
- COX14
- COX15
- COX16
- COX4I2
- COX5A
- COX6B1
- COX7B
- COX8A
- CP
- CPE
- CPLANE1
- CPLX1
- CPN1
- CPOX
- CPS1
- CPT1A
- CPT2
- CR2
- CRB1
- CRB2
- CREB3L1
- CREBBP
- CRELD1
- CRKL
- CRLF1
- CRPPA
- CRTAP
- CRX
- CRYAB
- CSF2RB
- CSF3R
- CSGALNACT1
- CSNK2A1
- CSPP1
- CSRP3
- CST3
- CSTA
- CTBP1
- CTC1
- CTCF
- CTLA4
- CTNNA3
- CTNNB1
- CTNNBL1
- CTNND2
- CTNS
- CTSA
- CTSB
- CTSH
- CTSK
- CTU2
- CUBN
- CUL3
- CUL7
- CWC27
- CXCR2
- CXCR4
- CYB561
- CYBA
- CYBB
- CYBC1
- CYLD
- CYP11A1
- CYP11B1
- CYP11B2
- CYP17A1
- CYP1B1
- CYP24A1
- CYP26C1
- CYP27A1
- CYP3A5
- CYP7A1
- CYP7B1
- CYSLTR2
Nom du gène
- D2HGDH
- DACT1
- DARS1
- DAXX
- DBH
- DCAF17
- DCAF8
- DCC
- DCDC2
- DCHS1
- DCLRE1B
- DCLRE1C
- DCTN1
- DCX
- DDB2
- DDC
- DDR2
- DDRGK1
- DDX11
- DDX3X
- DDX59
- DDX6
- DEAF1
- DEF6
- DES
- DGCR2
- DGCR6
- DGCR8
- DGUOK
- DHCR24
- DHCR7
- DHDDS
- DHODH
- DHX37
- DHX38
- DIAPH1
- DIS3L2
- DISP1
- DKC1
- DLD
- DLEC1
- DLK1
- DLL1
- DLL3
- DLL4
- DLST
- DLX5
- DMD
- DMRT3
- DMXL2
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DNAJB11
- DNAJB13
- DNAJC13
- DNAJC19
- DNAJC21
- DNAJC30
- DNAL1
- DNAL4
- DNASE1
- DNASE1L3
- DNASE2
- DNM2
- DNMT3A
- DNMT3B
- DOCK6
- DOCK8
- DOHH
- DOLK
- DPAGT1
- DPF2
- DPH1
- DPH2
- DPH5
- DPM1
- DPM3
- DPP6
- DPP9
- DRC1
- DSC2
- DSC3
- DSE
- DSG1
- DSG2
- DSG4
- DSP
- DST
- DTNA
- DTNBP1
- DUOX2
- DUOXA2
- DUSP6
- DUX4
- DUX4L1
- DVL1
- DVL3
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYRK1A
- DYRK1B
- DYSF
- DZIP1
- DZIP1L
Nom du gène
- EBP
- ECE1
- ECHS1
- EDA
- EDA2R
- EDN1
- EDNRA
- EDNRB
- EED
- EFEMP1
- EFEMP2
- EFL1
- EFTUD2
- EGFR
- EHMT1
- EIF2AK3
- EIF2AK4
- EIF4G1
- EIF4H
- ELAC2
- ELANE
- ELMO2
- ELN
- ELOVL4
- ELP1
- EMD
- EMG1
- EMILIN1
- ENG
- ENPP1
- EOGT
- EP300
- EPAS1
- EPB41
- EPB42
- EPCAM
- EPG5
- EPHB2
- EPHB4
- EPHX2
- EPOR
- ERAP1
- ERBB3
- ERCC1
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC8
- ERF
- ERGIC1
- ERMARD
- ESCO2
- ESPN
- ESR1
- ESS2
- ETHE1
- ETV6
- EVC
- EVC2
- EWSR1
- EXOC2
- EXOC6B
- EXOSC5
- EXT1
- EXT2
- EXTL3
- EYA4
- EYS
- EZH2
Nom du gène
- F10
- F11
- F12
- F13A1
- F13B
- F2
- F5
- F7
- FADD
- FAH
- FAM111A
- FAM13A
- FAM149B1
- FAM161A
- FAN1
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FAR1
- FARSA
- FARSB
- FAS
- FASLG
- FASTKD2
- FAT4
- FBLN5
- FBN1
- FBN2
- FBP1
- FBXL4
- FBXO28
- FBXW11
- FCGR2A
- FCGR2B
- FCGR2C
- FCHO1
- FDFT1
- FECH
- FERMT1
- FERMT3
- FEZF1
- FGA
- FGB
- FGD1
- FGF10
- FGF13
- FGF17
- FGF20
- FGF8
- FGFR1
- FGFR2
- FGFR3
- FGFRL1
- FGG
- FH
- FHL1
- FHL2
- FHOD3
- FIBP
- FIG4
- FIP1L1
- FKBP10
- FKBP14
- FKBP6
- FKRP
- FKTN
- FLAD1
- FLCN
- FLI1
- FLII
- FLNA
- FLNB
- FLNC
- FLRT3
- FLT1
- FLT4
- FLVCR1
- FMN2
- FMO3
- FN1
- FNIP1
- FOCAD
- FOS
- FOXA2
- FOXC1
- FOXC2
- FOXE1
- FOXE3
- FOXF1
- FOXH1
- FOXJ1
- FOXP1
- FOXP3
- FOXRED1
- FRA16E
- FRAS1
- FREM1
- FREM2
- FRG1
- FRMD5
- FSCN2
- FSHR
- FTCD
- FTO
- FUCA1
- FUT8
- FUZ
- FYB1
- FZD2
- FZD4
Nom du gène
- G6PC1
- G6PC3
- G6PD
- GAA
- GABRA3
- GABRD
- GALC
- GALE
- GALK1
- GALNS
- GALNT3
- GANAB
- GAS1
- GAS2L2
- GAS8
- GATA1
- GATA2
- GATA3
- GATA4
- GATA5
- GATA6
- GATAD1
- GATB
- GATC
- GBA1
- GBE1
- GCDH
- GCGR
- GCH1
- GCK
- GCLC
- GDAP1
- GDF1
- GDF2
- GDF3
- GDF6
- GEMIN4
- GFI1
- GFI1B
- GFM2
- GFRA1
- GGCX
- GHR
- GIGYF2
- GIMAP5
- GINS1
- GJA1
- GJA5
- GJA8
- GJB2
- GJB3
- GJB4
- GJB6
- GJC2
- GLA
- GLB1
- GLI1
- GLI2
- GLI3
- GLIS3
- GLMN
- GLRX5
- GLUL
- GLYCTK
- GM2A
- GMPPA
- GMPPB
- GNA11
- GNA14
- GNAI2
- GNAI3
- GNAO1
- GNAQ
- GNAS
- GNAT2
- GNB2
- GNB3
- GNB5
- GNE
- GNPTAB
- GNPTG
- GNS
- GP1BA
- GP1BB
- GP6
- GP9
- GPC3
- GPC4
- GPC6
- GPD1
- GPD1L
- GPI
- GPIHBP1
- GPR101
- GPR35
- GPX4
- GRB10
- GREB1L
- GREM1
- GRIN1
- GRIP1
- GRM7
- GRN
- GSN
- GTF2E2
- GTF2H5
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GTPBP3
- GUCA1B
- GUCY1A1
- GUCY2D
- GUSB
- GYG1
- GYPC
- GYS1
Nom du gène
- H19
- H3-3A
- H3-3B
- H4C3
- H4C5
- H4C9
- HAAO
- HABP2
- HACD1
- HADH
- HADHA
- HADHB
- HAMP
- HAND2
- HAVCR2
- HBA1
- HBA2
- HBB
- HBG1
- HBG2
- HCCS
- HCN4
- HCRT
- HDAC4
- HDAC8
- HEATR3
- HELLPAR
- HEPHL1
- HES7
- HESX1
- HEXA
- HEXB
- HEY2
- HFE
- HGD
- HGSNAT
- HIBCH
- HIC1
- HIRA
- HIVEP2
- HJV
- HK1
- HLA-A
- HLA-B
- HLA-DPA1
- HLA-DPB1
- HLA-DQB1
- HLA-DRB1
- HLCS
- HMBS
- HMCN1
- HMGA2
- HMGCL
- HMOX1
- HNF1A
- HNF4A
- HNRNPA1
- HNRNPA2B1
- HNRNPH2
- HNRNPK
- HNRNPR
- HNRNPU
- HOXA1
- HOXA11
- HOXA13
- HOXD13
- HPGD
- HPS1
- HPS3
- HPS4
- HPS5
- HPS6
- HPSE2
- HRAS
- HS2ST1
- HS3ST6
- HS6ST1
- HSD11B2
- HSD17B10
- HSD17B4
- HSD3B2
- HSD3B7
- HSPA9
- HSPG2
- HTRA1
- HTRA2
- HYLS1
- HYMAI
- HYOU1
Nom du gène
- IARS1
- IARS2
- ICOS
- IDH1
- IDH2
- IDH3A
- IDH3B
- IDUA
- IFIH1
- IFNG
- IFNGR1
- IFT122
- IFT140
- IFT172
- IFT27
- IFT43
- IFT74
- IFT80
- IFT81
- IFT88
- IGBP1
- IGF1R
- IGF2
- IGFBP7
- IGH
- IGHG2
- IGHM
- IGKC
- IGLL1
- IGSF3
- IKBKG
- IKZF1
- IKZF3
- IL10
- IL10RA
- IL12A
- IL12A-AS1
- IL12B
- IL12RB1
- IL17F
- IL17RA
- IL17RC
- IL17RD
- IL1RN
- IL23R
- IL2RA
- IL2RB
- IL2RG
- IL36RN
- IL6
- IL6ST
- IL7
- IL7R
- IMPDH1
- IMPDH2
- IMPG1
- IMPG2
- INF2
- INPP5E
- INPPL1
- INS
- INSR
- INTS1
- INTU
- INVS
- IPO8
- IQCB1
- IQSEC2
- IRAK1
- IRF2BP2
- IRF4
- IRF5
- IRF6
- IRF8
- IRX5
- ISCU
- ISG15
- ITCH
- ITGA2
- ITGA2B
- ITGA3
- ITGA7
- ITGA8
- ITGB3
- ITK
- ITPA
- ITPR1
- IVD
- IVNS1ABP
- IYD
Nom du gène
- KANSL1
- KAT5
- KAT6A
- KAT6B
- KAT8
- KATNB1
- KATNIP
- KBTBD13
- KCNA1
- KCNA5
- KCNAB2
- KCND3
- KCNE1
- KCNE2
- KCNE3
- KCNE5
- KCNH1
- KCNH2
- KCNJ1
- KCNJ10
- KCNJ11
- KCNJ18
- KCNJ2
- KCNJ5
- KCNJ8
- KCNK3
- KCNN3
- KCNN4
- KCNQ1
- KCNQ1OT1
- KCNQ2
- KCTD1
- KDM1A
- KDM3B
- KDM5B
- KDM6A
- KDM6B
- KDR
- KDSR
- KIAA0319L
- KIAA0586
- KIAA0753
- KIAA1549
- KIF11
- KIF12
- KIF15
- KIF1B
- KIF20A
- KIF23
- KIF3B
- KIF5A
- KIF7
- KIFBP
- KIT
- KITLG
- KIZ
- KLF1
- KLF13
- KLHL3
- KLHL41
- KLHL7
- KLLN
- KLRC4
- KMT2B
- KMT2C
- KMT2D
- KMT5B
- KNG1
- KNSTRN
- KPTN
- KRAS
- KRIT1
- KRT1
- KRT10
- KRT14
- KRT18
- KRT2
- KRT5
- KRT83
- KYNU
Nom du gène
- LACC1
- LAMA2
- LAMA3
- LAMA4
- LAMA5
- LAMB2
- LAMB3
- LAMC2
- LAMP2
- LARP7
- LARS2
- LAT
- LBR
- LBX1
- LCA5
- LCAT
- LCP2
- LDB3
- LDLR
- LDLRAP1
- LEMD2
- LEMD3
- LEP
- LEPR
- LETM1
- LFNG
- LHX3
- LHX4
- LIAS
- LIFR
- LIG1
- LIG3
- LIG4
- LIMK1
- LIMS2
- LIPA
- LIPC
- LIPE
- LIPN
- LIPT1
- LMAN1
- LMBRD1
- LMNA
- LMNB1
- LMOD1
- LMOD2
- LMX1B
- LONP1
- LORICRIN
- LOX
- LOXL1
- LPIN1
- LPIN2
- LPL
- LRAT
- LRBA
- LRIG2
- LRP1
- LRP12
- LRP2
- LRP4
- LRP5
- LRP6
- LRPPRC
- LRRC32
- LRRC56
- LRRC8A
- LRRK2
- LSM11
- LTBP1
- LTBP2
- LTBP3
- LTBP4
- LUZP1
- LYST
- LYZ
- LZTFL1
- LZTR1
Nom du gène
- MAB21L1
- MACF1
- MAD2L2
- MADD
- MAF
- MAFB
- MAGEL2
- MAGT1
- MAK
- MALT1
- MAN2B1
- MANBA
- MAP1B
- MAP2K1
- MAP2K2
- MAP3K1
- MAP3K20
- MAP3K7
- MAPK1
- MAPKAPK5
- MAPRE2
- MAPT
- MARS2
- MASP1
- MAT2A
- MAX
- MBTPS2
- MC1R
- MC2R
- MC4R
- MCCC1
- MCCC2
- MCFD2
- MCIDAS
- MCM10
- MCM4
- MCTP2
- MDFIC
- MDH2
- MDM2
- MECOM
- MECP2
- MED12
- MED13L
- MED23
- MED25
- MEF2A
- MEFV
- MEG3
- MEGF8
- MEIS2
- MEN1
- MEOX1
- MERTK
- MESP2
- METTL27
- METTL5
- MFAP5
- MGAT2
- MGME1
- MGMT
- MGP
- MIB1
- MICOS13
- MICU1
- MID1
- MIF
- MINPP1
- MIPEP
- MIR17HG
- MITF
- MKKS
- MKS1
- MLH1
- MLH3
- MLX
- MLXIPL
- MLYCD
- MMACHC
- MMEL1
- MMP1
- MMP14
- MMP2
- MMP21
- MMP23B
- MMUT
- MNS1
- MNX1
- MOG
- MOGS
- MPEG1
- MPI
- MPIG6B
- MPL
- MPLKIP
- MRAP
- MRAS
- MRE11
- MRPL12
- MRPL3
- MRPL44
- MRPS14
- MRPS16
- MRPS22
- MS4A1
- MSH2
- MSH6
- MSL3
- MST1
- MSX1
- MSX2
- MT-ATP6
- MT-ATP8
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND4L
- MT-ND5
- MT-ND6
- MT-TC
- MT-TE
- MT-TF
- MT-TH
- MT-TK
- MT-TL1
- MT-TN
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TT
- MT-TV
- MT-TW
- MTAP
- MTFMT
- MTHFR
- MTMR14
- MTO1
- MTOR
- MTRR
- MTTP
- MTX2
- MUC1
- MUC5B
- MVK
- MYBPC3
- MYC
- MYCN
- MYD88
- MYF6
- MYH11
- MYH3
- MYH6
- MYH7
- MYH8
- MYH9
- MYL2
- MYL3
- MYL4
- MYLK
- MYLK2
- MYMK
- MYMX
- MYO18B
- MYO1H
- MYO5A
- MYO5B
- MYOC
- MYOCD
- MYOF
- MYORG
- MYOT
- MYOZ2
- MYPN
- MYRF
- MYSM1
Nom du gène
- NAA10
- NAA20
- NABP1
- NADSYN1
- NAGA
- NAGLU
- NAGS
- NAXD
- NBAS
- NBEAL2
- NCAPG2
- NCF2
- NCF4
- NCKAP1L
- NDE1
- NDNF
- NDP
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- NDUFA6
- NDUFA8
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB7
- NDUFB8
- NDUFB9
- NDUFC2
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NECTIN1
- NEDD4L
- NEK1
- NEK10
- NEK2
- NEK8
- NEK9
- NELFA
- NEU1
- NEUROD2
- NEUROG3
- NEXN
- NF2
- NFE2L2
- NFIA
- NFIX
- NFKB1
- NFKB2
- NFKBIL1
- NFS1
- NFU1
- NGLY1
- NHLRC2
- NHP2
- NIPA1
- NIPA2
- NIPBL
- NKAP
- NKX2-1
- NKX2-5
- NKX2-6
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NME5
- NME8
- NMNAT1
- NNT
- NOD2
- NODAL
- NONO
- NOP10
- NOS1AP
- NOS3
- NOTCH1
- NOTCH3
- NPC1
- NPC2
- NPHP1
- NPHP3
- NPHP4
- NPM1
- NPPA
- NPR3
- NR0B1
- NR2E3
- NR2F2
- NR3C1
- NR3C2
- NR4A2
- NR5A1
- NRAS
- NRL
- NRXN1
- NSD1
- NSD2
- NSDHL
- NSMCE2
- NSMCE3
- NSUN2
- NT5E
- NTRK1
- NUBPL
- NUMA1
- NUP107
- NUP155
- NUP188
- NXN
Nom du gène
Nom du gène
- P2RY11
- P2RY12
- P4HA2
- PACS1
- PACS2
- PAFAH1B1
- PAH
- PAK2
- PALB2
- PALLD
- PAM16
- PARN
- PARS2
- PAX1
- PAX2
- PAX3
- PAX6
- PAX8
- PBX1
- PCARE
- PCCA
- PCCB
- PCGF2
- PCNA
- PCNT
- PCSK9
- PDCD10
- PDE11A
- PDE3A
- PDE4D
- PDE6A
- PDE6B
- PDE6C
- PDE6D
- PDE6G
- PDE6H
- PDE8B
- PDGFB
- PDGFRA
- PDGFRB
- PDHA1
- PDPN
- PDSS1
- PDSS2
- PDX1
- PEPD
- PERP
- PET100
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PGAP1
- PGAP2
- PGAP3
- PGM1
- PGM3
- PHF21A
- PHGDH
- PHKA2
- PHKB
- PHKG2
- PHYH
- PI4KA
- PIBF1
- PIEZO1
- PIEZO2
- PIGA
- PIGF
- PIGG
- PIGL
- PIGM
- PIGN
- PIGO
- PIGP
- PIGQ
- PIGS
- PIGT
- PIGU
- PIGV
- PIGW
- PIGY
- PIK3C2A
- PIK3CA
- PIK3CD
- PIK3CG
- PIK3R1
- PIK3R2
- PITX2
- PKD1
- PKD1L1
- PKD2
- PKDCC
- PKHD1
- PKLR
- PKP2
- PLAG1
- PLAGL1
- PLAU
- PLCB3
- PLCB4
- PLCG2
- PLCH1
- PLD1
- PLEC
- PLEKHM1
- PLG
- PLIN1
- PLN
- PLOD1
- PLOD3
- PLP1
- PLVAP
- PLXNA1
- PLXND1
- PML
- PMM2
- PMS1
- PMS2
- PNKP
- PNP
- PNPLA2
- PNPLA6
- POGZ
- POLA1
- POLD1
- POLE
- POLG
- POLG2
- POLH
- POLR1A
- POLR1B
- POLR1C
- POLR1D
- POLR3A
- POLR3F
- POMGNT1
- POMK
- POMP
- POMT1
- POMT2
- POR
- PORCN
- POT1
- POU1F1
- POU2AF1
- POU3F4
- POU6F2
- PPA2
- PPARG
- PPCS
- PPFIBP1
- PPM1D
- PPOX
- PPP1CB
- PPP1R15B
- PPP1R17
- PPP1R21
- PPP2CA
- PPP2R1A
- PPP2R3C
- PPP2R5D
- PQBP1
- PRCD
- PRDM13
- PRDM16
- PRDM5
- PRDM6
- PRF1
- PRG4
- PRIM1
- PRKACA
- PRKACB
- PRKACG
- PRKAG2
- PRKAR1A
- PRKCD
- PRKCH
- PRKCSH
- PRKCZ
- PRKD1
- PRKG1
- PRKG2
- PRNP
- PROC
- PROK2
- PROKR2
- PROM1
- PROP1
- PRORP
- PROS1
- PRPF3
- PRPF31
- PRPF4
- PRPF6
- PRPF8
- PRPH2
- PRR12
- PRRX1
- PRTN3
- PRUNE1
- PSAP
- PSEN1
- PSEN2
- PSMB10
- PSMB4
- PSMB8
- PSMB9
- PSMC1
- PSMD12
- PSMG2
- PSTPIP1
- PTCH1
- PTCH2
- PTDSS1
- PTEN
- PTF1A
- PTGIS
- PTH1R
- PTPN11
- PTPN14
- PTPN2
- PTPN22
- PTPRC
- PUF60
- PURA
- PYCR1
- PYGL
- PYGM
- PYROXD1
Nom du gène
- RAB23
- RAB27A
- RAB3GAP2
- RABL3
- RAC1
- RAC2
- RACGAP1
- RAD21
- RAD51
- RAD51C
- RAF1
- RAG1
- RAG2
- RAI1
- RANBP2
- RANGRF
- RARA
- RARB
- RASA1
- RASA2
- RASGRP1
- RAX2
- RB1
- RBBP8
- RBCK1
- RBM10
- RBM20
- RBP3
- RBP4
- RBPJ
- RDH12
- RDH5
- RECQL4
- REEP6
- RELN
- REN
- RERE
- REST
- RET
- RFC2
- RFT1
- RFWD3
- RGR
- RGS5
- RHAG
- RHBDF2
- RHCE
- RHD
- RHO
- RHOH
- RIGI
- RIN2
- RINT1
- RIPK1
- RIPK4
- RIPPLY2
- RIT1
- RLBP1
- RLIM
- RMND1
- RMRP
- RNASEH1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF113A
- RNF125
- RNF135
- RNF168
- RNF2
- RNF213
- RNF220
- RNF6
- RNU4ATAC
- RNU7-1
- ROBO4
- ROM1
- ROR2
- RORC
- RP1
- RP1L1
- RP2
- RP9
- RPE65
- RPGR
- RPGRIP1
- RPGRIP1L
- RPL10
- RPL11
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL3L
- RPL5
- RPS10
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS6KA3
- RPS7
- RPSA
- RRAS
- RRAS2
- RREB1
- RRM2B
- RS1
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- RSPO2
- RSPRY1
- RTEL1
- RTL1
- RTTN
- RUNX1
- RYR1
- RYR2
Nom du gène
- SAA1
- SACS
- SAG
- SALL1
- SALL4
- SAMD9
- SAMD9L
- SAMHD1
- SARDH
- SARS2
- SATB1
- SATB2
- SBDS
- SC5D
- SCAPER
- SCARB2
- SCARF2
- SCN10A
- SCN11A
- SCN1B
- SCN2A
- SCN2B
- SCN3B
- SCN4A
- SCN4B
- SCN5A
- SCN9A
- SCNN1A
- SCNN1B
- SCNN1G
- SCO1
- SCO2
- SCUBE3
- SCYL1
- SCYL2
- SDCCAG8
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHC
- SDHD
- SEC23A
- SEC23B
- SEC24C
- SEC31A
- SEC61A1
- SEC63
- SELENOI
- SELENON
- SEMA3A
- SEMA3E
- SEMA4A
- SEMA4D
- SEMA5A
- SERPINA1
- SERPINA6
- SERPINC1
- SERPIND1
- SERPINE1
- SERPINF2
- SERPING1
- SETBP1
- SETD1A
- SETD2
- SETD5
- SETX
- SF3B1
- SF3B2
- SF3B4
- SFTPA1
- SFTPA2
- SFTPB
- SFTPC
- SGCA
- SGCB
- SGCD
- SGCG
- SGO1
- SGSH
- SH2B1
- SH2B3
- SH2D1A
- SH3BP2
- SH3PXD2B
- SHANK3
- SHH
- SHMT2
- SHOC2
- SHPK
- SIAH1
- SIK1
- SIK3
- SIM1
- SIN3A
- SIX3
- SIX6
- SKI
- SKIC2
- SKIC3
- SLC12A1
- SLC12A2
- SLC12A3
- SLC17A5
- SLC18A2
- SLC19A2
- SLC19A3
- SLC1A3
- SLC20A2
- SLC22A4
- SLC22A5
- SLC24A1
- SLC25A11
- SLC25A12
- SLC25A13
- SLC25A20
- SLC25A22
- SLC25A24
- SLC25A26
- SLC25A3
- SLC25A4
- SLC26A2
- SLC27A4
- SLC29A3
- SLC2A1
- SLC2A10
- SLC30A10
- SLC30A9
- SLC34A2
- SLC35A1
- SLC35A2
- SLC37A4
- SLC38A3
- SLC39A13
- SLC39A4
- SLC40A1
- SLC4A1
- SLC4A3
- SLC51A
- SLC5A5
- SLC5A6
- SLC6A5
- SLC6A6
- SLC6A8
- SLC7A14
- SLC7A7
- SLCO2A1
- SLFN14
- SLMAP
- SLURP1
- SLX4
- SMAD2
- SMAD3
- SMAD4
- SMAD6
- SMAD9
- SMARCA2
- SMARCA4
- SMARCAL1
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCE1
- SMC1A
- SMC3
- SMCHD1
- SMG8
- SMG9
- SMO
- SMOC1
- SMPD1
- SMPX
- SNAI2
- SNAP29
- SNCA
- SNIP1
- SNORD118
- SNRNP200
- SNRPB
- SNRPN
- SNTA1
- SNX10
- SNX14
- SOCS1
- SON
- SOS1
- SOS2
- SOX10
- SOX11
- SOX18
- SOX2
- SOX3
- SOX4
- SOX5
- SOX6
- SOX9
- SP110
- SP7
- SPAG1
- SPARC
- SPATA5
- SPATA7
- SPECC1L
- SPEF2
- SPEG
- SPEN
- SPG11
- SPIB
- SPINK5
- SPOP
- SPP1
- SPRED1
- SPRED2
- SPRY2
- SPRY4
- SPTA1
- SPTB
- SPTBN1
- SQSTM1
- SRCAP
- SRD5A3
- SREBF1
- SRP54
- SRSF2
- SRY
- SSR4
- STAC3
- STAG1
- STAG2
- STAMBP
- STAR
- STAT1
- STAT2
- STAT3
- STAT4
- STAT5B
- STEAP3
- STIL
- STIM1
- STING1
- STK11
- STK36
- STK4
- STN1
- STOX1
- STRA6
- STRADA
- STT3A
- STX11
- STX16
- STX1A
- STX3
- STXBP1
- STXBP2
- SUCLG1
- SUFU
- SUGCT
- SULT2B1
- SUMF1
- SUPT16H
- SURF1
- SUZ12
- SVBP
- SVIL
- SYK
- SYNE1
- SYNE2
- SYT1
- SYT2
Nom du gène
- TAB2
- TACO1
- TACR3
- TAF1A
- TAF2
- TAFAZZIN
- TALDO1
- TANGO2
- TAOK1
- TAPT1
- TARS1
- TASP1
- TBC1D24
- TBCK
- TBL1XR1
- TBL2
- TBX1
- TBX19
- TBX2
- TBX20
- TBX22
- TBX3
- TBX4
- TBX5
- TBX6
- TBXA2R
- TBXAS1
- TCAP
- TCF3
- TCF4
- TCIRG1
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TDGF1
- TDP2
- TECRL
- TEK
- TELO2
- TERC
- TERF2IP
- TERT
- TET2
- TET3
- TF
- TFAP2A
- TFAP2B
- TFE3
- TFR2
- TFRC
- TG
- TGDS
- TGFB1
- TGFB2
- TGFB3
- TGFBI
- TGFBR1
- TGFBR2
- TGFBR3
- TGIF1
- TGM1
- TGM5
- THBD
- THOC2
- THOC6
- THPO
- THSD1
- THSD4
- TIA1
- TIAM1
- TIMMDC1
- TINF2
- TJP2
- TK2
- TKFC
- TKT
- TLCD3B
- TLK2
- TLL1
- TLR4
- TLR7
- TLR8
- TMC6
- TMC8
- TMCO1
- TMEM106B
- TMEM107
- TMEM126A
- TMEM126B
- TMEM127
- TMEM138
- TMEM147
- TMEM216
- TMEM218
- TMEM231
- TMEM237
- TMEM260
- TMEM270
- TMEM43
- TMEM53
- TMEM67
- TMEM70
- TMEM94
- TMPO
- TMTC3
- TNFRSF11A
- TNFRSF11B
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF1B
- TNFRSF4
- TNFSF11
- TNFSF12
- TNFSF15
- TNFSF4
- TNNC1
- TNNI3
- TNNI3K
- TNNT2
- TNPO3
- TNXB
- TOGARAM1
- TOM1
- TONSL
- TOP3A
- TOPORS
- TOR1A
- TOR1AIP1
- TP53
- TP63
- TPI1
- TPK1
- TPM1
- TPM2
- TPM3
- TPO
- TPP2
- TRAC
- TRAF3IP1
- TRAF3IP2
- TRAF7
- TRAIP
- TRAPPC11
- TRDN
- TREM2
- TREX1
- TRIM28
- TRIM32
- TRIM37
- TRIM8
- TRIO
- TRIP11
- TRIP13
- TRIP4
- TRMT10C
- TRMT5
- TRMU
- TRNT1
- TRPC6
- TRPM4
- TRPS1
- TRPV3
- TRPV6
- TRRAP
- TSC1
- TSC2
- TSFM
- TSHB
- TSHR
- TSPAN12
- TSPYL1
- TSR2
- TTC12
- TTC26
- TTC7A
- TTC8
- TTN
- TTPA
- TTR
- TUB
- TUBB
- TUBG1
- TULP1
- TULP3
- TWIST1
- TWIST2
- TWNK
- TXNDC15
- TXNL4A
- TXNRD2
- TYMS
- TYR
Nom du gène
Nom du gène
Nom du gène
Division Internationale
Lundi-Vendredi : 8h30 - 18h30
Tél : +33 4 72 80 23 85
Contact par email
Tél : +33 4 72 80 23 85
Contact par email
