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Abnormality of the digestive system
Code Aire thérapeutique (HPO) :
HP:0025031Panel «Abnormality of the digestive system» :
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Code pathologie
Nom de la pathologie
- ORPHA:276413 10q22.3q23.3 microdeletion syndrome
- ORPHA:444002 11q22.2q22.3 microdeletion syndrome
- ORPHA:94063 12q14 microdeletion syndrome
- ORPHA:412035 13q12.3 microdeletion syndrome
- ORPHA:401935 14q24.1q24.3 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:500055 16p13.2 microdeletion syndrome
- ORPHA:261250 16q24.3 microdeletion syndrome
- ORPHA:1713 17p11.2 microduplication syndrome
- ORPHA:217385 17p13.3 microduplication syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:261265 17q12 microdeletion syndrome
- ORPHA:261272 17q12 microduplication syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:261279 17q23.1q23.2 microdeletion syndrome
- ORPHA:529962 17q24.2 microdeletion syndrome
- ORPHA:254346 19p13.12 microdeletion syndrome
- ORPHA:357001 19p13.13 microdeletion syndrome
- ORPHA:447980 19p13.3 microduplication syndrome
- ORPHA:217346 19q13.11 microdeletion syndrome
- ORPHA:1606 1p36 deletion syndrome
- ORPHA:250989 1q21.1 microdeletion syndrome
- ORPHA:250994 1q21.1 microduplication syndrome
- ORPHA:238769 1q44 microdeletion syndrome
- ORPHA:363659 20q11.2 microduplication syndrome
- ORPHA:261311 20q13.33 microdeletion syndrome
- ORPHA:261323 21q22.11q22.12 microdeletion syndrome
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:261349 2p15p16.1 microdeletion syndrome
- ORPHA:228402 2q23.1 microdeletion syndrome
- ORPHA:313947 2q23.1 microduplication syndrome
- ORPHA:251014 2q31.1 microdeletion syndrome
- ORPHA:251019 2q32q33 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:246450 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency
- OMIM:231530 3-Hydroxyacyl-Coa dehydrogenase deficiency
- OMIM:250620 3-Hydroxyisobutyryl-Coa hydrolase deficiency
- OMIM:210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency
- OMIM:210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency
- ORPHA:67046 3-methylglutaconic aciduria type 1
- 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:614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
- OMIM:617248 3-methylglutaconic aciduria, type VIII
- ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form
- ORPHA:7 3C syndrome
- ORPHA:293843 3MC syndrome
- OMIM:257920 3mc syndrome 1
- OMIM:265050 3mc syndrome 2
- OMIM:248340 3MC syndrome 3
- ORPHA:435638 3p25.3 microdeletion syndrome
- ORPHA:65286 3q29 microdeletion syndrome
- ORPHA:251038 3q29 microduplication syndrome
- ORPHA:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:99329 48,XYYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- ORPHA:289494 4H leukodystrophy
- OMIM:260005 5-@oxoprolinase deficiency
- ORPHA:228384 5q14.3 microdeletion syndrome
- ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency
- ORPHA:171829 6q16 microdeletion syndrome
- ORPHA:96121 7q11.23 microduplication syndrome
- ORPHA:96092 8p inverted duplication/deletion syndrome
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:228399 8q12 microduplication syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
- ORPHA:324313 9p13 microdeletion syndrome
- ORPHA:531151 9q21.13 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Code pathologie
Nom de la pathologie
- ORPHA:85445 AA amyloidosis
- ORPHA:439232 AApoAIV amyloidosis
- OMIM:100050 Aarskog syndrome, autosomal dominant
- OMIM:305400 Aarskog-Scott syndrome
- ORPHA:915 Aarskog-Scott syndrome
- OMIM:600501 ABCD syndrome
- ORPHA:324708 ABeta amyloidosis, Iowa type
- ORPHA:14 Abetalipoproteinemia
- OMIM:200100 ABETALIPOPROTEINEMIA
- ORPHA:920 Ablepharon macrostomia syndrome
- OMIM:200110 Ablepharon-Macrostomia syndrome
- ORPHA:2310 Absence deformity of leg-cataract syndrome
- ORPHA:3016 Absent radius-anogenital anomalies syndrome
- ORPHA:945 Acalvaria
- OMIM:619959 ACCES syndrome
- ORPHA:48818 Aceruloplasminemia
- ORPHA:99736 Acetazolamide-responsive myotonia
- OMIM:200400 Achalasia, familial esophageal
- OMIM:231550 Achalasia-Addisonianism-Alacrima syndrome
- ORPHA:929 Achalasia-microcephaly syndrome
- OMIM:200450 Achalasia-Microcephaly syndrome
- ORPHA:932 Achondrogenesis
- ORPHA:93299 Achondrogenesis type 1A
- ORPHA:93298 Achondrogenesis type 1B
- OMIM:200600 Achondrogenesis, type IA
- OMIM:600972 Achondrogenesis, type IB
- OMIM:200610 Achondrogenesis, type II
- OMIM:100800 Achondroplasia
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- ORPHA:2221 Acquired hypertrichosis lanuginosa
- ORPHA:75564 Acquired idiopathic sideroblastic anemia
- ORPHA:464453 Acquired methemoglobinemia
- ORPHA:79087 Acquired partial lipodystrophy
- ORPHA:49566 Acquired purpura fulminans
- ORPHA:99147 Acquired von Willebrand syndrome
- ORPHA:958 Acro-renal-mandibular syndrome
- ORPHA:959 Acro-renal-ocular syndrome
- OMIM:200990 Acrocallosal syndrome
- ORPHA:36 Acrocallosal syndrome
- ORPHA:2008 Acrocardiofacial syndrome
- OMIM:200995 Acrocephalopolydactylous dysplasia
- ORPHA:221054 Acrocephalopolydactyly
- ORPHA:37 Acrodermatitis enteropathica
- OMIM:201100 Acrodermatitis enteropathica, Zinc-Deficiency type
- OMIM:154400 Acrofacial dysostosis 1, Nager type
- ORPHA:1786 Acrofacial dysostosis, Catania type
- OMIM:619636 Acromesomelic dysplasia 4
- OMIM:201400 Acth deficiency, isolated
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:529799 Acute bilirubin encephalopathy
- ORPHA:83597 Acute disseminated encephalomyelitis
- ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy
- ORPHA:79276 Acute intermittent porphyria
- ORPHA:90062 Acute liver failure
- ORPHA:178320 Acute lung injury
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:86843 Acute panmyelosis with myelofibrosis
- ORPHA:520 Acute promyelocytic leukemia
- ORPHA:139417 Acute transverse myelitis
- ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency
- OMIM:201450 Acyl-Coa dehydrogenase, medium-chain, deficiency of
- OMIM:201470 Acyl-Coa dehydrogenase, short-chain, deficiency of
- ORPHA:974 Adams-Oliver syndrome
- OMIM:615297 Adams-Oliver syndrome 4
- OMIM:616028 Adams-Oliver syndrome 5
- OMIM:616589 Adams-Oliver syndrome 6
- ORPHA:85138 Addison disease
- OMIM:201550 Adducted thumbs syndrome
- ORPHA:976 Adenine phosphoribosyltransferase deficiency
- OMIM:614723 Adenine phosphoribosyltransferase deficiency
- ORPHA:424016 Adenocarcinoma of the anal canal
- ORPHA:99976 Adenocarcinoma of the esophagus
- ORPHA:95512 Adenohypophysitis
- OMIM:175100 Adenomatous polyposis coli
- OMIM:103200 Adiposis dolorosa
- ORPHA:36397 Adiposis dolorosa
- ORPHA:404448 ADNP syndrome
- ORPHA:1501 Adrenocortical carcinoma
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- OMIM:300100 Adrenoleukodystrophy
- ORPHA:139399 Adrenomyeloneuropathy
- ORPHA:977 Adrenomyodystrophy
- OMIM:300270 ADRENOMYODYSTROPHY
- ORPHA:70578 Adult acute respiratory distress syndrome
- ORPHA:2688 Adult idiopathic neutropenia
- ORPHA:178487 Adult intestinal botulism
- ORPHA:99027 Adult-onset autosomal dominant leukodystrophy
- ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329478 Adult-onset distal myopathy due to VCP mutation
- ORPHA:199351 Adult-onset dystonia-parkinsonism
- ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- 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:613501 Agammaglobulinemia 3, autosomal recessive
- OMIM:613502 Agammaglobulinemia 4, 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
- OMIM:202550 Aganglionosis, total intestinal
- ORPHA:85448 AGel amyloidosis
- OMIM:613623 Agenesis of the corpus callosum and congenital lymphedema
- OMIM:218000 Agenesis of the corpus callosum with peripheral neuropathy
- ORPHA:98850 Aggressive systemic mastocytosis
- ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- ORPHA:50 Aicardi syndrome
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:610329 Aicardi-Goutieres syndrome 3
- OMIM:610333 Aicardi-Goutieres syndrome 4
- OMIM:612952 Aicardi-Goutieres syndrome 5
- OMIM:615010 Aicardi-Goutieres syndrome 6
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619487 Aicardi-Goutieres syndrome 9
- ORPHA:79085 AKT2-related familial partial lipodystrophy
- ORPHA:85443 AL amyloidosis
- OMIM:609465 Al-Gazali syndrome
- OMIM:607131 Al-Gazali-Bakalinova 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:58 Alexander disease
- ORPHA:363717 Alexander disease type I
- ORPHA:363722 Alexander disease type II
- ORPHA:79327 ALG1-CDG
- ORPHA:280071 ALG11-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:79326 ALG2-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79320 ALG6-CDG
- ORPHA:79325 ALG8-CDG
- ORPHA:79328 ALG9-CDG
- ORPHA:59 Allan-Herndon-Dudley syndrome
- OMIM:300523 Allan-Herndon-Dudley syndrome
- ORPHA:93925 Alobar holoprosencephaly
- OMIM:613490 Alpha-1-Antitrypsin deficiency
- ORPHA:60 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
- OMIM:203750 Alpha-Methylacetoacetic aciduria
- OMIM:614307 Alpha-methylacyl-CoA racemase deficiency
- ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1
- ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3
- ORPHA:846 Alpha-thalassemia
- ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome
- ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome
- OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked
- ORPHA:63 Alport 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:607822 Alzheimer disease 3
- OMIM:104350 Amastia, bilateral, with ureteral triplication and dysmorphism
- ORPHA:3386 American trypanosomiasis
- OMIM:600325 Aminopterin syndrome sine aminopterin
- ORPHA:99742 Amish lethal microcephaly
- OMIM:300194 AMME complex
- ORPHA:67 Amoebiasis due to Entamoeba histolytica
- ORPHA:68 Amoebiasis due to free-living amoebae
- OMIM:105200 Amyloidosis, familial visceral
- OMIM:105120 Amyloidosis, Finnish type
- OMIM:105210 Amyloidosis, hereditary, transthyretin-related
- OMIM:105300 Amyotrophic dystonic paraplegia
- ORPHA:803 Amyotrophic lateral sclerosis
- OMIM:105400 Amyotrophic lateral sclerosis 1
- OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia
- OMIM:613435 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia
- OMIM:300857 Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia
- OMIM:614808 Amyotrophic lateral sclerosis 18
- OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile
- OMIM:606070 Amyotrophic lateral sclerosis 21
- OMIM:617839 Amyotrophic lateral sclerosis 23
- OMIM:608627 Amyotrophic lateral sclerosis 8
- OMIM:617892 Amyotrophic lateral sclerosis, susceptibility to, 24
- OMIM:105580 Anal canal carcinomacloacogenic carcinoma, included
- OMIM:105563 Anal sphincter dysplasia
- OMIM:105565 Anal sphincter myopathy, internal
- ORPHA:142 Anaplastic thyroid carcinoma
- OMIM:618853 Anauxetic dysplasia 3
- ORPHA:754 Androgen insensitivity syndrome
- OMIM:300068 Androgen insensitivity syndrome
- OMIM:224120 Anemia, congenital dyserythropoietic, type Ia
- OMIM:615631 Anemia, congenital dyserythropoietic, type Ib
- OMIM:224100 Anemia, dyserythropoietic congenital, type II
- OMIM:105600 Anemia, dyserythropoietic congenital, type III
- OMIM:613673 Anemia, dyserythropoietic congenital, type IV
- OMIM:268150 Anemia, hemolytic, Rh-null, Regulator type
- OMIM:206100 Anemia, hypochromic microcytic, with iron overload 1
- 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
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- OMIM:105830 Angelman syndrome
- ORPHA:72 Angelman syndrome
- ORPHA:411511 Angelman syndrome due to a point mutation
- ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13
- ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion
- ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15
- OMIM:106100 Angioedema, hereditary, 1
- OMIM:610618 Angioedema, hereditary, 3
- OMIM:619367 Angioedema, hereditary, 8
- OMIM:106070 Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:74 Angiostrongyliasis
- ORPHA:1069 Aniridia-absent patella syndrome
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:675 Annular pancreas
- ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome
- OMIM:107100 Anorectal anomalies
- ORPHA:51890 Anterior cutaneous nerve entrapment syndrome
- ORPHA:81 Antisynthetase syndrome
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- OMIM:207500 Anus, imperforate
- OMIM:301800 Anus, imperforate
- ORPHA:2299 Aortic arch interruption
- ORPHA:247806 APC-related attenuated familial adenomatous polyposis
- OMIM:101200 Apert syndrome
- ORPHA:87 Apert syndrome
- ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- OMIM:207731 Aplasia cutis congenita with intestinal lymphangiectasia
- ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- OMIM:207750 Apolipoprotein C-II deficiency
- OMIM:107700 Appendicitis, proneness to
- ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome
- ORPHA:2356 Arachnoid cyst
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:1133 AREDYLD syndrome
- OMIM:207800 Argininemia
- OMIM:207900 Argininosuccinic aciduria
- OMIM:243910 Arima syndrome
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:1136 Arnold-Chiari malformation type II
- ORPHA:91 Aromatase deficiency
- OMIM:608643 Aromatic L-amino acid decarboxylase deficiency
- ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:208050 Arterial tortuosity syndrome
- OMIM:208060 Arteriosclerosis, severe juvenile
- OMIM:108050 Arteritis, familial granulomatous, with juvenile polyarthritis
- ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome
- OMIM:618947 Arthrogryposis multiplex congenita 5
- OMIM:618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:158300 Arthrogryposis, distal, type 7
- OMIM:617146 Arthrogryposis, distal, with impaired proprioception and touch
- 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:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- OMIM:301835 Arts syndrome
- OMIM:208300 Ascites, chylous
- ORPHA:137686 Asherman syndrome
- OMIM:615574 Asparagine synthetase deficiency
- ORPHA:93 Aspartylglucosaminuria
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:1163 Aspergillosis
- OMIM:613091 Asphyxiating thoracic dystrophy 3
- OMIM:271400 Asplenia, isolated congenital
- OMIM:619352 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
- OMIM:609033 Ataxia, posterior column, with retinitis pigmentosa
- ORPHA:2585 Ataxia-pancytopenia syndrome
- OMIM:208900 Ataxia-telangiectasia
- OMIM:615919 Ataxia-Telangiectasia-Like disorder 2
- ORPHA:1190 Atelosteogenesis type I
- ORPHA:56304 Atelosteogenesis type II
- OMIM:108720 Atelosteogenesis, type I
- ORPHA:95713 Athyreosis
- OMIM:209300 ATRANSFERRINEMIA
- ORPHA:1201 Atresia of small intestine
- ORPHA:105 Atresia of urethra
- ORPHA:1344 Atrial standstill
- ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- OMIM:600123 Atrioventricular septal defect with blepharophimosis and anal andradial defects
- ORPHA:220460 Attenuated familial adenomatous polyposis
- ORPHA:85451 ATTRV122I amyloidosis
- ORPHA:85447 ATTRV30M amyloidosis
- ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration
- ORPHA:3095 Atypical Rett syndrome
- ORPHA:99966 Atypical teratoid rhabdoid tumor
- ORPHA:79474 Atypical Werner syndrome
- OMIM:616580 Au-Kline syndrome
- OMIM:209770 Aural atresia, multiple congenital anomalies, and mental retardation
- ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- ORPHA:137888 Auriculocondylar syndrome
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- OMIM:615952 Autoimmune disease, multisystem, infantile-onset, 1
- OMIM:617006 Autoimmune disease, multisystem, infantile-onset, 2
- 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: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:3143 Autoimmune polyendocrinopathy type 2
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- 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:616744 Autoinflammatory syndrome, familial, Behcet-like
- OMIM:619375 Autoinflammatory syndrome, familial, with or without immunodeficiency
- OMIM:301074 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- OMIM:619858 Autoinflammatory-pancytopenia syndrome
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:99 Autosomal dominant cerebellar ataxia
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:312 Autosomal dominant epidermolytic ichthyosis
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- 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:266 Autosomal dominant limb-girdle muscular dystrophy type 1A
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- 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:251282 Autosomal dominant spastic ataxia type 1
- ORPHA:100993 Autosomal dominant spastic paraplegia type 12
- ORPHA:101009 Autosomal dominant spastic paraplegia type 29
- ORPHA:101011 Autosomal dominant spastic paraplegia type 31
- ORPHA:447757 Autosomal dominant spastic paraplegia type 9B
- ORPHA:228169 Autosomal dominant striatal neurodegeneration
- ORPHA:79278 Autosomal erythropoietic protoporphyria
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity
- ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- OMIM:600142 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
- ORPHA:90349 Autosomal recessive cutis laxa type 1
- ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type
- ORPHA:357058 Autosomal recessive cutis laxa type 2A
- ORPHA:101150 Autosomal recessive dopa-responsive dystonia
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:2990 Autosomal recessive multiple pterygium syndrome
- ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita
- 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:100996 Autosomal recessive spastic paraplegia type 15
- ORPHA:209951 Autosomal recessive spastic paraplegia type 18
- ORPHA:101000 Autosomal recessive spastic paraplegia type 20
- ORPHA:101001 Autosomal recessive spastic paraplegia type 21
- ORPHA:101003 Autosomal recessive spastic paraplegia type 23
- ORPHA:101006 Autosomal recessive spastic paraplegia type 26
- ORPHA:171629 Autosomal recessive spastic paraplegia type 35
- ORPHA:320380 Autosomal recessive spastic paraplegia type 54
- ORPHA:100986 Autosomal recessive spastic paraplegia type 5A
- ORPHA:466722 Autosomal recessive spastic paraplegia type 77
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:454836 Avian influenza
- ORPHA:782 Axenfeld-Rieger syndrome
- OMIM:180500 Axenfeld-Rieger syndrome, type 1
- OMIM:601499 Axenfeld-rieger syndrome, type 2
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- OMIM:109130 Axial osteomalacia
- ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis
- ORPHA:1272 Aymé-Gripp syndrome
Code pathologie
Nom de la pathologie
- OMIM:616452 B-cell expansion with NFKB and T-cell anergy
- ORPHA:79332 B4GALT1-CDG
- ORPHA:108 Babesiosis
- ORPHA:36234 Bacterial toxic-shock syndrome
- ORPHA:352577 Bainbridge-Ropers syndrome
- OMIM:615485 Bainbridge-Ropers syndrome
- OMIM:618218 Baker-Gordon syndrome
- OMIM:218600 Baller-Gerold syndrome
- ORPHA:1225 Baller-Gerold syndrome
- 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
- ORPHA:110 Bardet-Biedl syndrome
- OMIM:209900 Bardet-Biedl syndrome 1
- OMIM:619471 Bardet-Biedl syndrome 20
- OMIM:209920 Bare lymphocyte syndrome, type II
- OMIM:614266 Barrett esophagus
- ORPHA:89938 Bartter syndrome type 4
- OMIM:601678 Bartter syndrome, type 1, antenatal
- OMIM:241200 Bartter syndrome, type 2
- OMIM:109400 Basal cell nevus syndrome
- OMIM:618317 Basal ganglia calcification, idiopathic, 7, autosomal recessive
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- OMIM:301032 Basilicata-Akhtar syndrome
- OMIM:123790 Beare-Stevenson cutis gyrata syndrome
- OMIM:618798 Beck-Fahrner syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:117 Behçet disease
- OMIM:210000 Behr syndrome
- ORPHA:1949 Benign familial neonatal epilepsy
- ORPHA:25968 Benign occipital epilepsy
- ORPHA:71518 Benign paroxysmal torticollis of infancy
- ORPHA:65682 Benign recurrent intrahepatic cholestasis
- ORPHA:252164 Benign schwannoma
- 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:118 Beta-mannosidosis
- ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria
- ORPHA:848 Beta-thalassemia
- ORPHA:231222 Beta-thalassemia intermedia
- ORPHA:231214 Beta-thalassemia major
- ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome
- OMIM:613161 Beta-ureidopropionase deficiency
- ORPHA:79138 Bickerstaff brainstem encephalitis
- OMIM:608980 Bifid nose with or without anorectal and renal anomalies
- ORPHA:208447 Bilateral generalized polymicrogyria
- ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria
- ORPHA:98889 Bilateral perisylvian polymicrogyria
- ORPHA:268940 Bilateral polymicrogyria
- ORPHA:1980 Bilateral striopallidodentate calcinosis
- OMIM:619232 Bile acid conjugation defect 1
- OMIM:613291 Bile acid malabsorption, primary
- OMIM:619481 Bile acid malabsorption, primary, 2
- 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:214950 Bile acid synthesis defect, congenital, 4
- OMIM:616278 Bile acid synthesis defect, congenital, 5
- OMIM:617308 Bile acid synthesis defect, congenital, 6
- OMIM:210500 Biliary atresia, extrahepatic
- OMIM:109720 Biliary cirrhosis, primary
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- OMIM:253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset
- OMIM:612292 Birk-Barel mental retardation dysmorphism syndrome
- OMIM:617595 Birk-Landau-Perez syndrome
- OMIM:135150 Birt-Hogg-Dube syndrome
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:191800 Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
- ORPHA:93930 Bladder exstrophy
- ORPHA:90340 Blau syndrome
- OMIM:605735 Bleeding disorder, platelet-type, 12
- OMIM:187900 Bleeding disorder, platelet-type, 17
- ORPHA:1997 Blepharo-cheilo-odontic syndrome
- OMIM:119580 Blepharocheilodontic syndrome 1
- ORPHA:1252 Blepharonasofacial malformation syndrome
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:619293 Blepharophimosis-impaired intellectual development syndrome
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- OMIM:613793 Blood group, cromer system
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- OMIM:211000 Blue diaper syndrome
- ORPHA:94086 Blue diaper syndrome
- ORPHA:1059 Blue rubber bleb nevus
- OMIM:112200 Blue rubber bleb nevus
- ORPHA:217266 BNAR syndrome
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- ORPHA:1842 Bone dysplasia, lethal Holmgren type
- OMIM:617052 Bone marrow failure syndrome 3
- ORPHA:1263 Boomerang dysplasia
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome
- OMIM:603457 Bosma arhinia microphthalmia syndrome
- ORPHA:1267 Botulism
- ORPHA:83313 Boutonneuse fever
- ORPHA:1270 Bowen-Conradi syndrome
- OMIM:601357 Brachial amelia, cleft lip, and holoprosencephaly
- 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
- OMIM:619980 Braddock-Carey syndrome 1
- OMIM:613735 Brain malformations with or without urinary tract defects
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- OMIM:113620 Branchiooculofacial syndrome
- OMIM:113650 Branchiootorenal syndrome 1
- ORPHA:1299 Branchioskeletogenital syndrome
- ORPHA:85284 BRESEK syndrome
- OMIM:614170 Brittle cornea syndrome 2
- ORPHA:97287 Bronchial neuroendocrine tumor
- OMIM:211400 Bronchiectasis with or without elevated sweat chloride 1
- OMIM:613021 Bronchiectasis with or without elevated sweat chloride 2
- ORPHA:2357 Bronchogenic cyst
- OMIM:211530 Brown-Vialetto-Van laere syndrome 1
- OMIM:614707 Brown-Vialetto-Van laere syndrome 2
- ORPHA:1304 Brucellosis
- OMIM:609220 Bruck syndrome 2
- OMIM:300615 Brunner syndrome
- 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:211500 Bulbar palsy, progressive, of childhood
- OMIM:619314 Buratti-Harel syndrome
- ORPHA:543 Burkitt lymphoma
- OMIM:608572 Burn-Mckeown syndrome
- ORPHA:132 Butyrylcholinesterase deficiency
Code pathologie
Nom de la pathologie
- ORPHA:1308 C syndrome
- OMIM:211750 C syndrome
- OMIM:609536 C5 deficiency
- ORPHA:135 CACH syndrome
- ORPHA:1310 Caffey disease
- ORPHA:1318 Campomelia, Cumming type
- OMIM:211890 Campomelia, Cumming type
- OMIM:114290 Campomelic dysplasia
- OMIM:211960 Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases
- ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- OMIM:131300 Camurati-Engelmann disease
- ORPHA:1328 Camurati-Engelmann disease
- ORPHA:141 Canavan disease
- ORPHA:71505 Cancer-associated retinopathy
- ORPHA:1517 Cantú syndrome
- ORPHA:160148 Cap polyposis
- ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome
- OMIM:237300 Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to
- ORPHA:100093 Carcinoid syndrome
- OMIM:114900 Carcinoid tumors, intestinal
- ORPHA:70482 Carcinoma of esophagus
- ORPHA:1686 Cardiac diverticulum
- OMIM:212093 Cardiac valvular defect, developmental
- OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay
- OMIM:618280 Cardiac-Urogenital syndrome
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- ORPHA:2872 Cardiocranial syndrome, Pfeiffer type
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:619123 Cardiofacioneurodevelopmental syndrome
- OMIM:115197 Cardiomyopathy, familial hypertrophic, 4
- OMIM:619433 Cardiomyopathy, familial restrictive, 6
- OMIM:157800 Cardiospondylocarpofacial syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- ORPHA:1359 Carney complex
- ORPHA:139411 Carney triad
- OMIM:606864 Carney-Stratakis syndrome
- 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
- OMIM:250250 Cartilage-hair hypoplasia
- ORPHA:175 Cartilage-hair hypoplasia
- ORPHA:160 Castleman disease
- OMIM:115470 Cat eye syndrome
- ORPHA:195 Cat-eye syndrome
- OMIM:607674 Cataract, congenital, with mental impairment and dentate gyrus atrophy
- ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome
- ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome
- ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- OMIM:619338 Cataracts, spastic paraparesis, and speech delay
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- OMIM:616145 Catel-Manzke syndrome
- OMIM:618761 Catifa syndrome
- ORPHA:1756 Caudal duplication
- ORPHA:3027 Caudal regression syndrome
- OMIM:603116 CDAGS syndrome
- OMIM:618774 CEBALID syndrome
- OMIM:116870 Celiac artery stenosis from compression by median arcuate ligamentof diaphragm
- OMIM:226810 Celiac disease, epilepsy and cerebral calcification syndrome
- OMIM:212750 Celiac disease, susceptibility to, 1
- OMIM:117000 Central core disease
- ORPHA:178029 Central diabetes insipidus
- OMIM:619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- OMIM:619483 Central hypoventilation syndrome, congenital, 3
- ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- ORPHA:73256 Central neurocytoma
- 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
- ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome
- OMIM:616875 Cerebellar atrophy, visual impairment, and psychomotor retardation
- OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- OMIM:213010 Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome
- ORPHA:444072 Cerebellar-facial-dental syndrome
- OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy
- 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:300352 Cerebral creatine deficiency syndrome 1
- OMIM:612736 Cerebral creatine deficiency syndrome 2
- OMIM:617008 Cerebral palsy, spastic quadriplegic, 3
- OMIM:300864 Cerebral-Cerebellar-Coloboma syndrome, X-linked
- ORPHA:1393 Cerebrocostomandibular syndrome
- OMIM:117650 Cerebrocostomandibular syndrome
- ORPHA:314679 Cerebrofacioarticular syndrome
- OMIM:612199 Cerebroretinal microangiopathy with calcifications and cysts
- OMIM:617341 Cerebroretinal microangiopathy with calcifications and cysts 2
- OMIM:213700 Cerebrotendinous xanthomatosis
- ORPHA:909 Cerebrotendinous xanthomatosis
- OMIM:214200 Ceroid storage disease
- OMIM:601389 Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction
- OMIM:275630 Chanarin-Dorfman syndrome
- OMIM:118301 Charcot-Marie-Tooth disease with ptosis and parkinsonism
- OMIM:616924 Charcot-Marie-Tooth disease, axonal, type 2CC
- OMIM:618400 Charcot-Marie-Tooth disease, axonal, type 2EE
- OMIM:619574 Charcot-Marie-Tooth disease, axonal, type 2HH
- OMIM:607734 Charcot-Marie-Tooth disease, demyelinating, type 1F
- OMIM:607736 Charcot-Marie-Tooth disease, type 2J
- OMIM:302800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- OMIM:214500 Chediak-Higashi syndrome
- ORPHA:167 Chédiak-Higashi syndrome
- ORPHA:184 Cherubism
- OMIM:118420 Chiari malformation type I
- OMIM:207950 Chiari malformation type II
- ORPHA:324625 Chikungunya
- ORPHA:168782 Childhood disintegrative disorder
- ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- ORPHA:171439 Childhood-onset nemaline myopathy
- ORPHA:401866 Childhood-onset spasticity with hyperglycinemia
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:137914 Choanal atresia
- OMIM:615619 CHOLANGIOCARCINOMA
- ORPHA:70567 Cholangiocarcinoma
- ORPHA:173 Cholera
- OMIM:214980 Cholestasis with gallstone, ataxia, and visual disturbance
- OMIM:243300 Cholestasis, benign recurrent intrahepatic 1
- OMIM:605479 Cholestasis, benign recurrent intrahepatic, 2
- OMIM:614972 Cholestasis, intrahepatic, of pregnancy 3
- OMIM:147480 Cholestasis, intrahepatic, of pregnancy, 1
- 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:619874 Cholestasis, progressive familial intrahepatic, 11
- OMIM:620010 Cholestasis, progressive familial intrahepatic, 12
- OMIM:602347 Cholestasis, progressive familial intrahepatic, 3
- OMIM:617049 Cholestasis, progressive familial intrahepatic, 5
- 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:75234 Cholesteryl ester storage disease
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- OMIM:619504 Chopra-Amiel-Gordon syndrome
- OMIM:616368 CHOPS syndrome
- ORPHA:2388 Choreoacanthocytosis
- OMIM:200150 CHOREOACANTHOCYTOSIS
- ORPHA:85278 Christianson syndrome
- OMIM:613884 Chromosome 13q14 deletion syndrome
- OMIM:619148 Chromosome 13q33-q34 deletion syndrome
- OMIM:615656 Chromosome 15q11.2 deletion syndrome
- OMIM:614294 Chromosome 15q25 deletion syndrome
- OMIM:611913 Chromosome 16p11.2 deletion syndrome, 593-kb
- OMIM:613604 Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb
- OMIM:610543 Chromosome 16p13.3 deletion syndrome
- OMIM:613458 Chromosome 16p13.3 duplication syndrome
- OMIM:614541 Chromosome 16q22 deletion syndrome
- OMIM:613776 Chromosome 17p13.1 deletion syndrome
- OMIM:614526 Chromosome 17q12 duplication syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:613638 Chromosome 19p13.13 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:614257 Chromosome 20q11-q12 deletion syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:613792 Chromosome 3pter-p25 deletion syndrome
- OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome
- OMIM:612582 Chromosome 6pter-p24 deletion syndrome
- OMIM:613544 Chromosome 6q11-q14 deletion syndrome
- OMIM:612863 Chromosome 6q25-q25 deletion syndrome
- OMIM:614230 Chromosome 8q21.11 deletion syndrome
- OMIM:151200 Chromosome 8q22.1 duplication syndrome
- OMIM:158170 Chromosome 9P deletion syndrome
- OMIM:301069 Chromosome Xq13 duplication syndrome
- ORPHA:529808 Chronic bilirubin encephalopathy
- ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency
- ORPHA:99921 Chronic graft versus host disease
- ORPHA:379 Chronic granulomatous disease
- OMIM:613960 Chronic granulomatous disease 3, autosomal recessive
- OMIM:618935 Chronic granulomatous disease 5, autosomal recessive
- OMIM:306400 Chronic granulomatous disease, X-linked
- ORPHA:396 Chronic hiccup
- 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:70591 Chronic thromboembolic pulmonary hypertension
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- OMIM:246700 Chylomicron retention disease
- ORPHA:71 Chylomicron retention disease
- OMIM:118830 Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase
- ORPHA:1160 Chylous ascites
- ORPHA:435651 CIDEC-related familial partial lipodystrophy
- OMIM:244400 Ciliary dyskinesia, primary, 1
- OMIM:613807 Ciliary dyskinesia, primary, 14
- OMIM:618699 Ciliary dyskinesia, primary, 43
- OMIM:619273 Cimdag syndrome
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- OMIM:118900 Cirrhosis, familial
- OMIM:215600 Cirrhosis, familial
- ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- ORPHA:57777 Cirrhotic cardiomyopathy
- ORPHA:247525 Citrullinemia type I
- ORPHA:247585 Citrullinemia type II
- OMIM:215700 Citrullinemia, classic
- OMIM:603471 Citrullinemia, type II, adult-onset
- OMIM:605814 Citrullinemia, type II, neonatal-onset
- ORPHA:79239 Classic galactosemia
- ORPHA:391 Classic Hodgkin lymphoma
- ORPHA:394 Classic homocystinuria
- ORPHA:2584 Classic mycosis fungoides
- ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration
- ORPHA:79254 Classic phenylketonuria
- ORPHA:240071 Classic progressive supranuclear palsy syndrome
- ORPHA:287 Classical Ehlers-Danlos syndrome
- ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome
- ORPHA:141291 Cleft lip and alveolus
- ORPHA:1991 Cleft lip with or without cleft palate
- ORPHA:199306 Cleft lip/palate
- OMIM:216100 Cleft lip/palate with abnormal thumbs and microcephaly
- OMIM:601165 Cleft lip/palate with characteristic facies, intestinal malrotation,and lethal congenital heart disease
- ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- OMIM:600987 Cleft palate, cardiac defects, and mental retardation
- OMIM:616728 Cleft palate, psychomotor retardation, and distinctive facial features
- ORPHA:99772 Cleft velum
- ORPHA:228346 CLN3 disease
- ORPHA:93929 Cloacal exstrophy
- ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome
- ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy
- OMIM:216360 Coach syndrome 1
- OMIM:619111 Coach syndrome 2
- OMIM:619113 COACH syndrome 3
- 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:614652 Coenzyme Q10 deficiency, primary, 3
- 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:618779 Coffin-Siris syndrome 11
- OMIM:619325 Coffin-Siris syndrome 12
- OMIM:614607 Coffin-Siris syndrome 2
- OMIM:614608 Coffin-Siris syndrome 3
- OMIM:614609 Coffin-Siris syndrome 4
- OMIM:616938 Coffin-Siris syndrome 5
- OMIM:617808 Coffin-siris syndrome 6
- OMIM:618027 Coffin-Siris syndrome 7
- OMIM:618362 Coffin-Siris syndrome 8
- OMIM:615866 Coffin-Siris syndrome 9
- ORPHA:1466 COFS syndrome
- ORPHA:263508 COG1-CDG
- ORPHA:435934 COG2-CDG
- ORPHA:263501 COG4-CDG
- ORPHA:263487 COG5-CDG
- ORPHA:79333 COG7-CDG
- ORPHA:95428 COG8-CDG
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:193 Cohen syndrome
- OMIM:216550 Cohen syndrome
- OMIM:617561 Cohen-Gibson syndrome
- ORPHA:31824 Colchicine poisoning
- ORPHA:56425 Cold agglutinin disease
- OMIM:610313 Cold-Induced sweating syndrome 2
- ORPHA:1198 Colonic atresia
- OMIM:303650 Colonic atresia
- OMIM:120440 Colonic varices without portal hypertension
- OMIM:114500 Colorectal cancer
- OMIM:609310 Colorectal cancer, hereditary nonpolyposis, type 2
- OMIM:614337 Colorectal cancer, hereditary nonpolyposis, type 4
- OMIM:614350 Colorectal cancer, hereditary nonpolyposis, type 5
- OMIM:614331 Colorectal cancer, hereditary nonpolyposis, type 6
- OMIM:614385 Colorectal cancer, hereditary nonpolyposis, type 7
- OMIM:613244 Colorectal cancer, hereditary nonpolyposis, type 8
- OMIM:612591 Colorectal cancer, susceptibility to, 10
- OMIM:615083 Colorectal cancer, susceptibility to, 12
- OMIM:612229 Colorectal cancer, susceptibility to, 3
- OMIM:615182 Combined d-2- and l-2-hydroxyglutaric aciduria
- ORPHA:35909 Combined deficiency of factor V and factor VIII
- OMIM:617780 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction
- ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency
- 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
- ORPHA:289504 Combined malonic and methylmalonic acidemia
- OMIM:614265 Combined malonic and methylmalonic aciduria
- OMIM:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- ORPHA:319514 Combined oxidative phosphorylation defect type 13
- ORPHA:444013 Combined oxidative phosphorylation defect type 23
- ORPHA:477774 Combined oxidative phosphorylation defect type 27
- ORPHA:478029 Combined oxidative phosphorylation defect type 29
- ORPHA:565624 Combined oxidative phosphorylation defect type 39
- ORPHA:254930 Combined oxidative phosphorylation defect type 7
- OMIM:609060 Combined oxidative phosphorylation deficiency 1
- OMIM:614702 Combined oxidative phosphorylation deficiency 10
- OMIM:614922 Combined oxidative phosphorylation deficiency 11
- OMIM:614924 Combined oxidative phosphorylation deficiency 12
- OMIM:614932 Combined oxidative phosphorylation deficiency 13
- OMIM:614946 Combined oxidative phosphorylation deficiency 14
- OMIM:615395 Combined oxidative phosphorylation deficiency 16
- OMIM:615595 Combined oxidative phosphorylation deficiency 19
- OMIM:610498 Combined oxidative phosphorylation deficiency 2
- OMIM:615918 Combined oxidative phosphorylation deficiency 21
- OMIM:616198 Combined oxidative phosphorylation deficiency 23
- OMIM:616239 Combined oxidative phosphorylation deficiency 24
- OMIM:616430 Combined oxidative phosphorylation deficiency 25
- OMIM:616672 Combined oxidative phosphorylation deficiency 27
- OMIM:616794 Combined oxidative phosphorylation deficiency 28
- OMIM:616811 Combined oxidative phosphorylation deficiency 29
- OMIM:610505 Combined oxidative phosphorylation deficiency 3
- OMIM:616974 Combined oxidative phosphorylation deficiency 30
- OMIM:617228 Combined oxidative phosphorylation deficiency 31
- OMIM:617664 Combined oxidative phosphorylation deficiency 32
- OMIM:617713 Combined oxidative phosphorylation deficiency 33
- OMIM:617872 Combined oxidative phosphorylation deficiency 34
- OMIM:618329 Combined oxidative phosphorylation deficiency 37
- OMIM:610678 Combined oxidative phosphorylation deficiency 4
- OMIM:618835 Combined oxidative phosphorylation deficiency 40
- OMIM:618839 Combined oxidative phosphorylation deficiency 42
- OMIM:618851 Combined oxidative phosphorylation deficiency 43
- OMIM:618958 Combined oxidative phosphorylation deficiency 47
- OMIM:611719 Combined oxidative phosphorylation deficiency 5
- OMIM:619025 Combined oxidative phosphorylation deficiency 50
- OMIM:619057 Combined oxidative phosphorylation deficiency 51
- OMIM:619386 Combined oxidative phosphorylation deficiency 52
- OMIM:619423 Combined oxidative phosphorylation deficiency 53
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:619743 Combined oxidative phosphorylation deficiency 55
- OMIM:613559 Combined oxidative phosphorylation deficiency 7
- OMIM:614096 Combined oxidative phosphorylation deficiency 8
- OMIM:614582 Combined oxidative phosphorylation deficiency 9
- OMIM:618952 Combined oxidative phosphorylation defiency 46
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- OMIM:611721 Combined saposin deficiency
- ORPHA:1572 Common variable immunodeficiency
- OMIM:614379 Complement component 4B deficiency
- OMIM:613783 Complement component c1s deficiency
- OMIM:615561 Complement factor B deficiency
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:1329 Complete atrioventricular septal defect
- ORPHA:3216 Conductive deafness-malformed external ear syndrome
- ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- ORPHA:210122 Congenital alveolar capillary dysplasia
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- OMIM:611890 Congenital arthrogryposis with anterior horn cell disease
- ORPHA:1195 Congenital atransferrinemia
- ORPHA:79301 Congenital bile acid synthesis defect type 1
- ORPHA:79303 Congenital bile acid synthesis defect type 2
- ORPHA:79302 Congenital bile acid synthesis defect type 3
- ORPHA:79095 Congenital bile acid synthesis defect type 4
- ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation
- ORPHA:115 Congenital contractural arachnodactyly
- OMIM:616266 Congenital contractures of the limbs and face, hypotonia, and developmental delay
- ORPHA:2140 Congenital diaphragmatic hernia
- OMIM:615273 Congenital disorder of deglycosylation 1
- OMIM:619775 Congenital disorder of deglycosylation 2
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:618324 Congenital disorder of glycosylation with defective fucosylation 2
- OMIM:619493 Congenital disorder of glycosylation, type 2V
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:602579 Congenital disorder of glycosylation, type Ib
- OMIM:301031 Congenital disorder of glycosylation, type Icc
- OMIM:601110 Congenital disorder of glycosylation, type Id
- OMIM:608799 Congenital disorder of glycosylation, type IE
- OMIM:609180 Congenital disorder of glycosylation, type IF
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- OMIM:608104 Congenital disorder of glycosylation, type Ih
- OMIM:607906 Congenital disorder of glycosylation, type Ii
- OMIM:606056 Congenital disorder of glycosylation, type IIB
- OMIM:608779 Congenital disorder of glycosylation, type IIe
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM:611182 Congenital disorder of glycosylation, type IIh
- OMIM:613489 Congenital disorder of glycosylation, type IIj
- OMIM:614727 Congenital disorder of glycosylation, type IIK
- 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:616829 Congenital disorder of glycosylation, type IIP
- OMIM:301045 Congenital disorder of glycosylation, type IIr
- OMIM:618885 Congenital disorder of glycosylation, type IIt
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- OMIM:608093 Congenital disorder of glycosylation, type Ij
- OMIM:608776 Congenital disorder of glycosylation, type Il
- OMIM:610768 Congenital disorder of glycosylation, type Im
- OMIM:612015 Congenital disorder of glycosylation, type IN
- OMIM:613661 Congenital disorder of glycosylation, type Ip
- OMIM:612379 Congenital disorder of glycosylation, type IQ
- OMIM:614507 Congenital disorder of glycosylation, type IR
- OMIM:614921 Congenital disorder of glycosylation, type It
- OMIM:615042 Congenital disorder of glycosylation, type Iu
- OMIM:615596 Congenital disorder of glycosylation, type Iw
- OMIM:615597 Congenital disorder of glycosylation, type Ix
- OMIM:300934 Congenital disorder of glycosylation, type Iy
- 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:326 Congenital factor V deficiency
- ORPHA:327 Congenital factor VII deficiency
- ORPHA:328 Congenital factor X deficiency
- ORPHA:329 Congenital factor XI deficiency
- ORPHA:331 Congenital factor XIII deficiency
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:528 Congenital generalized lipodystrophy
- OMIM:617364 Congenital heart defects and ectodermal dysplasia
- OMIM:617602 Congenital heart defects and skeletal malformations syndrome
- OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- OMIM:217085 Congenital heart defects, hamartomas of tongue, and polysyndactyly
- OMIM:619657 Congenital heart defects, multiple types, 8, with or without heterotaxy
- OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ORPHA:442 Congenital hypothyroidism
- ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs
- ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability
- 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:1954 Congenital lethal erythroderma
- ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency
- OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- ORPHA:2430 Congenital macroglossia
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation
- ORPHA:370968 Congenital muscular dystrophy with intellectual disability
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:590 Congenital myasthenic syndrome
- ORPHA:424107 Congenital myopathy with myasthenic-like onset
- ORPHA:313906 Congenital pancreatic cyst
- ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency
- ORPHA:617 Congenital primary megaureter
- OMIM:613679 Congenital prothrombin deficiency
- ORPHA:2414 Congenital pulmonary lymphangiectasia
- ORPHA:2040 Congenital respiratory-biliary fistula
- ORPHA:290 Congenital rubella syndrome
- OMIM:615237 Congenital short bowel syndrome
- ORPHA:2301 Congenital short bowel syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:35122 Congenital sucrase-isomaltase deficiency
- ORPHA:99125 Congenital total pulmonary venous return anomaly
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:141127 Congenital tracheal stenosis
- ORPHA:95430 Congenital tracheomalacia
- ORPHA:555874 Congenital tricuspid valve dysplasia
- ORPHA:92050 Congenital tufting enteropathy
- ORPHA:860 Congenitally uncorrected transposition of the great arteries
- OMIM:217100 Constricting bands, congenital
- ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome
- ORPHA:1488 Cooper-Jabs syndrome
- OMIM:121300 Coproporphyria
- OMIM:609141 Corneal dystrophy, posterior polymorphous, 3
- 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:2508 Corpus callosum agenesis-abnormal genitalia 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:304100 Corpus callosum, partial agenesis of, X-linked
- ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- 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:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:614099 Cranioectodermal dysplasia 3
- 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
- ORPHA:363705 Craniofaciofrontodigital syndrome
- OMIM:300712 Craniofacioskeletal syndrome
- ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome
- OMIM:304110 Craniofrontonasal syndrome
- OMIM:607812 Craniolenticulosutural dysplasia
- ORPHA:54595 Craniopharyngioma
- ORPHA:63260 Craniorachischisis
- ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- OMIM:123450 Cri-Du-Chat syndrome
- ORPHA:205 Crigler-Najjar syndrome
- ORPHA:79234 Crigler-Najjar syndrome type 1
- ORPHA:79235 Crigler-Najjar syndrome type 2
- OMIM:218800 Crigler-Najjar syndrome, type I
- OMIM:606785 Crigler-najjar syndrome, type II
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- ORPHA:1545 Crisponi syndrome
- OMIM:272430 Crisponi/cold-induced sweating syndrome 1
- OMIM:617055 Crisponi/cold-Induced sweating syndrome 3
- ORPHA:1461 Criss-cross heart
- ORPHA:2930 Cronkhite-Canada syndrome
- ORPHA:91138 Cryoglobulinemic vasculitis
- OMIM:185020 Cryohydrocytosis
- ORPHA:1546 Cryptococcosis
- ORPHA:1302 Cryptogenic organizing pneumonia
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- ORPHA:1552 Currarino syndrome
- OMIM:176450 Currarino syndrome
- OMIM:601707 Curry-Jones syndrome
- ORPHA:1553 Curry-Jones syndrome
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia
- ORPHA:79455 Cutaneous mastocytoma
- OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia
- OMIM:219095 Cutaneous photosensitivity and colitis, lethal
- ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- OMIM:123700 Cutis laxa, autosomal dominant 1
- OMIM:616603 Cutis laxa, autosomal dominant 3
- OMIM:219100 Cutis laxa, autosomal recessive, type IA
- OMIM:614437 Cutis laxa, autosomal recessive, type IB
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- OMIM:219200 Cutis laxa, autosomal recessive, type IIA
- OMIM:612940 Cutis laxa, autosomal recessive, type IIB
- OMIM:617403 Cutis laxa, autosomal recessive, type IID
- OMIM:619451 Cutis laxa, autosomal recessive, type IIE
- OMIM:219150 Cutis laxa, autosomal recessive, type IIIA
- OMIM:614438 Cutis laxa, autosomal recessive, type IIIB
- ORPHA:1556 Cutis marmorata telangiectatica congenita
- OMIM:219400 Cyanosis and hepatic disease
- OMIM:613977 Cyanosis, transient neonatal
- ORPHA:2686 Cyclic neutropenia
- OMIM:500007 Cyclic vomiting syndrome
- ORPHA:400 Cystic echinococcosis
- ORPHA:586 Cystic fibrosis
- OMIM:219700 Cystic fibrosis
- OMIM:219721 Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation
- OMIM:603855 Cystic fibrosis, modifier of, 1
- ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- 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:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:218 Darier disease
- ORPHA:300536 DDOST-CDG
- ORPHA:2962 De Barsy syndrome
- OMIM:221350 Deafness, congenital, with vitiligo and achalasia
- OMIM:221400 Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy
- ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome
- ORPHA:3239 Deafness-vitiligo-achalasia syndrome
- OMIM:619004 Deeah 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:79134 DEND syndrome
- ORPHA:99828 Dengue fever
- ORPHA:1652 Dent disease
- OMIM:300555 Dent disease 2
- ORPHA:1656 Dermatitis herpetiformis
- ORPHA:221 Dermatomyositis
- ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome
- ORPHA:99688 Dermotrichic syndrome
- OMIM:616708 Desanto-Shinawi syndrome
- ORPHA:1425 Desbuquois syndrome
- OMIM:135290 Desmoid disease, hereditary
- ORPHA:873 Desmoid tumor
- ORPHA:83469 Desmoplastic small round cell tumor
- ORPHA:35107 Desmosterolosis
- OMIM:619777 Developmental and epileptic encephalopathy 100
- OMIM:619814 Developmental and epileptic encephalopathy 101
- OMIM:619881 Developmental and epileptic encephalopathy 102
- OMIM:619913 Developmental and epileptic encephalopathy 103
- OMIM:619970 Developmental and epileptic encephalopathy 104
- OMIM:620033 Developmental and epileptic encephalopathy 107
- OMIM:300672 Developmental and epileptic encephalopathy 2
- OMIM:616139 Developmental and epileptic encephalopathy 27
- OMIM:617830 Developmental and epileptic encephalopathy 58
- OMIM:617938 Developmental and epileptic encephalopathy 62
- OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet
- OMIM:618379 Developmental and epileptic encephalopathy 73
- OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects
- OMIM:619124 Developmental and epileptic encephalopathy 89
- OMIM:301058 Developmental and epileptic encephalopathy 90
- OMIM:617711 Developmental and epileptic encephalopathy 91
- ORPHA:313892 Developmental and speech delay due to SOX5 deficiency
- OMIM:618454 Developmental delay with or without dysmorphic facies and autism
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities
- OMIM:620012 Developmental delay, hypotonia, and impaired language
- OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
- 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:79107 Developmental malformations-deafness-dystonia syndrome
- ORPHA:1666 Dextrocardia
- OMIM:125800 Diabetes insipidus, nephrogenic, 2
- OMIM:304800 Diabetes insipidus, nephrogenic, X-linked
- OMIM:612227 Diabetes mellitus, ketosis-prone
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- ORPHA:1926 Diabetic embryopathy
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:606164 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:608022 Diaphanospondylodysostosis
- ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome
- OMIM:601163 Diaphragmatic defects, limb deficiencies, and ossification defects of skull
- OMIM:620025 Diaphragmatic hernia 4, with cardiovascular defects
- OMIM:214700 Diarrhea 1, secretory chloride, congenital
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- OMIM:618662 Diarrhea 11, malabsorptive, congenital
- OMIM:619445 Diarrhea 12, with microvillus atrophy
- OMIM:251850 Diarrhea 2, with microvillous atrophy
- OMIM:270420 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
- OMIM:610370 Diarrhea 4, malabsorptive, congenital
- OMIM:613217 Diarrhea 5, with tufting enteropathy, congenital
- OMIM:614616 Diarrhea 6
- OMIM:615863 Diarrhea 7, protein-losing Enteropathy type
- OMIM:616868 Diarrhea 8, secretory sodium, congenital
- OMIM:618168 Diarrhea 9
- OMIM:612198 Diastasis recti and weakness of the linea alba
- OMIM:222690 Dibasic amino aciduria I
- OMIM:618646 Diencephalic-mesencephalic junction dysplasia syndrome 2
- OMIM:618846 Diets-Jongmans syndrome
- 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:226 Dihydropteridine reductase deficiency
- ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency
- OMIM:222748 Dihydropyrimidinuria
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- ORPHA:227 Diphallia
- ORPHA:2412 Dislocation of the hip-dysmorphism syndrome
- ORPHA:79168 Disorder of bile acid synthesis
- OMIM:223200 Disorganization, mouse, homolog of
- ORPHA:261222 Distal 16p11.2 microdeletion syndrome
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:261337 Distal 22q11.2 microduplication syndrome
- ORPHA:1580 Distal monosomy 10p
- ORPHA:96148 Distal monosomy 10q
- ORPHA:96149 Distal monosomy 12q
- ORPHA:1590 Distal monosomy 13q
- ORPHA:1597 Distal monosomy 17q
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:1620 Distal monosomy 3p
- ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement
- ORPHA:18 Distal renal tubular acidosis
- OMIM:602722 Distal renal tubular acidosis 3, with or without sensorineural hearing loss
- ORPHA:1707 Distal trisomy 15q
- ORPHA:3379 Distal trisomy 17q
- ORPHA:96097 Distal trisomy 5q
- OMIM:223330 Diverticulosis of bowel, hernia, and retinal detachment
- ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1
- ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:231226 Dominant beta-thalassemia
- OMIM:222448 Donnai-Barrow syndrome
- ORPHA:2143 Donnai-Barrow syndrome
- OMIM:246200 Donohue syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:255 Dopa-responsive dystonia
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3426 Double outlet right ventricle
- ORPHA:79145 Dowling-Degos disease
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:231 Dracunculiasis
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:90037 Drug-induced autoimmune hemolytic anemia
- ORPHA:233 Duane retraction syndrome
- OMIM:607323 Duane-Radial ray syndrome
- OMIM:237500 DUBIN-JOHNSON syndrome
- ORPHA:234 Dubin-Johnson syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:1203 Duodenal atresia
- OMIM:223400 Duodenal atresia
- ORPHA:100076 Duodenal neuroendocrine tumor
- OMIM:126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION
- OMIM:126850 Duodenal ulcer, hyperpepsinogenemic I
- ORPHA:314621 Duplication of the pituitary gland
- ORPHA:237 Duplication of urethra
- ORPHA:97339 Dural sinus malformation
- ORPHA:239 Dyggve-Melchior-Clausen disease
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- ORPHA:412 Dysbetalipoproteinemia
- ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613989 Dyskeratosis congenita, autosomal dominant 2
- OMIM:616553 Dyskeratosis congenita, autosomal dominant 6
- OMIM:127550 Dyskeratosis congenita, autosomal dominant, 1
- OMIM:224230 Dyskeratosis congenita, autosomal recessive 1
- OMIM:615190 Dyskeratosis congenita, autosomal recessive 5
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- OMIM:613987 Dyskeratosis congenita, autosomal recessive, 2
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:305000 Dyskeratosis congenita, X-linked
- OMIM:616921 Dyskinesia, limb and orofacial, infantile-onset
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- OMIM:224250 Dysmyelination with jaundice
- OMIM:619345 Dysostosis multiplex, Ain-Naz type
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:128100 Dystonia 1, torsion, autosomal dominant
- OMIM:128235 Dystonia 12
- ORPHA:210571 Dystonia 16
- OMIM:612067 Dystonia 16
- OMIM:224500 Dystonia 2, torsion, autosomal recessive
- ORPHA:589618 Dystonia 28
- OMIM:619565 Dystonia 31
- OMIM:619637 Dystonia 32
- OMIM:128101 Dystonia 4, torsion, autosomal dominant
- OMIM:611694 Dystonia with cerebellar atrophy
- OMIM:617282 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
- OMIM:607371 Dystonia, juvenile-onset
- ORPHA:412217 Dystonia-aphonia syndrome
Code pathologie
Nom de la pathologie
- ORPHA:40923 Eales disease
- ORPHA:2554 Ear-patella-short stature syndrome
- ORPHA:1934 Early infantile epileptic encephalopathy
- ORPHA:1935 Early myoclonic encephalopathy
- ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes
- ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- ORPHA:556030 Early-onset familial hypoaldosteronism
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- ORPHA:96369 Early-onset schizophrenia
- ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- ORPHA:319218 Ebola hemorrhagic fever
- OMIM:305100 Ectodermal dysplasia 1, hypohidrotic, X-linked
- OMIM:612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
- OMIM:609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome
- OMIM:616029 Ectodermal dysplasia/short stature syndrome
- ORPHA:231632 Ectopic aldosterone-producing tumor
- OMIM:604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
- OMIM:129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1
- OMIM:129840 Edema, familial idiopathic, prepubertal
- OMIM:129850 Edinburgh malformation syndrome
- OMIM:225320 Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
- OMIM:608763 Ehlers-danlos syndrome, Beasley-Cohen type
- OMIM:606408 Ehlers-Danlos syndrome, classic-like
- OMIM:618000 Ehlers-Danlos syndrome, classic-like, 2
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- OMIM:601776 Ehlers-Danlos syndrome, musculocontractural type 1
- OMIM:615539 Ehlers-Danlos syndrome, musculocontractural type, 2
- OMIM:130080 Ehlers-Danlos syndrome, periodontal type, 1
- OMIM:617174 Ehlers-Danlos syndrome, periodontal type, 2
- 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
- OMIM:617948 Elliptocytosis-3
- OMIM:211380 Elsahy-Waters syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- ORPHA:83600 Encephalitis lethargica
- OMIM:614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
- OMIM:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1
- OMIM:617086 Encephalopathy due to defective mitochondrial and peroxisomal fission 2
- ORPHA:139406 Encephalopathy due to prosaposin deficiency
- ORPHA:833 Encephalopathy due to sulfite oxidase deficiency
- OMIM:618426 Encephalopathy, acute, infection-induced, susceptibility to, 9
- OMIM:602473 Encephalopathy, ethylmalonic
- OMIM:300673 Encephalopathy, neonatal severe, due to mecp2 mutations
- OMIM:617668 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
- OMIM:617669 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity
- OMIM:617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
- OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
- OMIM:615924 Encephalopathy, progressive, with or without lipodystrophy
- OMIM:619218 ENDOVE syndrome, limb-brain type
- OMIM:619217 Endove syndrome, Limb-Only type
- ORPHA:60015 Enlarged parietal foramina
- ORPHA:83620 Enteric anendocrinosis
- OMIM:226150 ENTEROCOLITIS
- OMIM:226200 Enterokinase deficiency
- OMIM:600351 Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- ORPHA:251636 Ependymoma
- ORPHA:46487 Epidermolysis bullosa acquisita
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- OMIM:612138 Epidermolysis bullosa simplex with pyloric atresia
- ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia
- OMIM:619817 Epidermolysis bullosa, junctional 6, with pyloric atresia
- OMIM:226700 Epidermolysis bullosa, junctional, Herlitz type
- OMIM:226730 Epidermolysis bullosa, junctional, with pyloric atresia
- OMIM:616577 Epilepsy, hearing loss, and mental retardation syndrome
- OMIM:254900 Epilepsy, progressive myoclonic, 4, with or without renal failure
- OMIM:615833 Epileptic encephalopathy, early infantile, 21
- OMIM:616341 Epileptic encephalopathy, early infantile, 30
- OMIM:616647 Epileptic encephalopathy, early infantile, 35
- OMIM:300884 Epileptic encephalopathy, early infantile, 36
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:617065 Epileptic encephalopathy, early infantile, 40
- OMIM:617105 Epileptic encephalopathy, early infantile, 41
- OMIM:617132 Epileptic encephalopathy, early infantile, 44
- OMIM:617162 Epileptic encephalopathy, early infantile, 46
- OMIM:617166 Epileptic encephalopathy, early infantile, 47
- OMIM:613477 Epileptic encephalopathy, early infantile, 5
- OMIM:617339 Epileptic encephalopathy, early infantile, 51
- OMIM:617389 Epileptic encephalopathy, early infantile, 53
- OMIM:617599 Epileptic encephalopathy, early infantile, 55
- OMIM:617976 Epileptic encephalopathy, early infantile, 63
- OMIM:618374 Epileptic encephalopathy, early infantile, 72
- OMIM:618437 Epileptic encephalopathy, early infantile, 75
- OMIM:618468 Epileptic encephalopathy, early infantile, 76
- OMIM:618548 Epileptic encephalopathy, early infantile, 77
- OMIM:618580 Epileptic encephalopathy, early infantile, 80
- OMIM:618721 Epileptic encephalopathy, early infantile, 82
- OMIM:618744 Epileptic encephalopathy, early infantile, 83
- OMIM:618792 Epileptic encephalopathy, early infantile, 84
- OMIM:618910 Epileptic encephalopathy, early infantile, 86
- OMIM:617829 Epileptic encephalopathy, infantile or early childhood, 2
- OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
- ORPHA:37612 Episodic ataxia type 1
- ORPHA:79136 Episodic ataxia type 4
- ORPHA:209967 Episodic ataxia type 6
- OMIM:606554 Episodic ataxia, type 3
- OMIM:606552 Episodic ataxia, type 4
- OMIM:612656 Episodic ataxia, type 6
- OMIM:618924 Episodic ataxia, type 9
- ORPHA:35687 Erdheim-Chester disease
- OMIM:133020 Erythermalgia, primary
- OMIM:133100 Erythrocytosis, familial, 1
- OMIM:222800 Erythrocytosis, familial, 8
- ORPHA:314 Erythroderma desquamativum
- OMIM:133180 Erythroleukemia, familial, susceptibility to
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- OMIM:133239 Esophageal cancer, somatic
- OMIM:133240 Esophageal ring, lower
- OMIM:610247 Esophagitis, eosinophilic, 1
- OMIM:613412 Esophagitis, eosinophilic, 2
- ORPHA:3318 Essential thrombocythemia
- ORPHA:785 Estrogen resistance syndrome
- 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:612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis
- OMIM:600057 Exstrophy of bladder
- ORPHA:322 Exstrophy-epispadias complex
- OMIM:133705 External auditory canal, bilateral atresia of, with congenital verticaltalus
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:227255 Facial dysmorphism with multiple malformations
- OMIM:618381 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome
- ORPHA:85162 Facial onset sensory and motor neuronopathy
- OMIM:617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- OMIM:614744 Facial paresis, hereditary congenital, 3
- OMIM:227280 Faciocardiorenal syndrome
- OMIM:227330 Faciodigitogenital syndrome, autosomal recessive
- OMIM:158900 Facioscapulohumeral muscular dystrophy 1
- OMIM:134430 Factor VII and factor VIII, combined deficiency of
- ORPHA:306550 FADD-related immunodeficiency
- ORPHA:88619 Familial acute necrotizing encephalopathy
- ORPHA:733 Familial adenomatous polyposis
- OMIM:616415 Familial adenomatous polyposis 3
- OMIM:617100 Familial adenomatous polyposis 4
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- OMIM:608456 Familial adenomatous polyposis, 2
- ORPHA:280397 Familial Alzheimer-like prion disease
- ORPHA:2295 Familial articular hypermobility syndrome
- ORPHA:615 Familial atrial myxoma
- ORPHA:221061 Familial cerebral cavernous malformation
- ORPHA:444490 Familial chylomicronemia syndrome
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- ORPHA:47045 Familial cold urticaria
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:1764 Familial dysautonomia
- ORPHA:98881 Familial dysfibrinogenemia
- ORPHA:99819 Familial gestational hyperthyroidism
- 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:424 Familial hyperthyroidism due to mutations in TSH receptor
- ORPHA:427 Familial hypoaldosteronism
- ORPHA:405 Familial hypocalciuric hypercalcemia
- ORPHA:101041 Familial hypofibrinogenemia
- ORPHA:1677 Familial idiopathic dilatation of the right atrium
- ORPHA:225154 Familial infantile bilateral striatal necrosis
- ORPHA:508410 Familial intestinal malrotation
- ORPHA:99879 Familial isolated hyperparathyroidism
- ORPHA:75249 Familial isolated restrictive cardiomyopathy
- ORPHA:342 Familial Mediterranean fever
- OMIM:134610 Familial Mediterranean fever, AD
- OMIM:249100 Familial Mediterranean fever, AR
- ORPHA:618 Familial melanoma
- ORPHA:276399 Familial multinodular goiter
- ORPHA:199276 Familial multiple lipomatosis
- ORPHA:1333 Familial pancreatic carcinoma
- ORPHA:319487 Familial papillary or follicular thyroid carcinoma
- ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia
- ORPHA:97 Familial paroxysmal ataxia
- ORPHA:2348 Familial partial lipodystrophy, Dunnigan type
- ORPHA:79084 Familial partial lipodystrophy, Köbberling type
- ORPHA:871 Familial progressive cardiac conduction defect
- 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
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:605724 Fanconi anemia, complementation group D1
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:614083 Fanconi anemia, complementation group L
- OMIM:613390 Fanconi anemia, complementation group O
- OMIM:615272 Fanconi anemia, complementation group Q
- OMIM:617244 Fanconi anemia, complementation group R
- OMIM:617784 Fanconi anemia, complementation group W
- OMIM:616026 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- OMIM:227810 Fanconi-Bickel syndrome
- ORPHA:2088 Fanconi-Bickel syndrome
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- OMIM:600072 Fatal familial insomnia
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration
- OMIM:613282 Fatty liver disease, nonalcoholic, susceptibility to, 1
- OMIM:613387 Fatty liver disease, nonalcoholic, susceptibility to, 2
- OMIM:619376 Faundes-Banka 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
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- OMIM:618388 Fetal akinesia deformation sequence 2
- OMIM:619602 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
- ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia
- ORPHA:294 Fetal cytomegalovirus syndrome
- OMIM:613630 Fetal encasement syndrome
- ORPHA:85212 Fetal Gaucher disease
- ORPHA:1918 Fetal minoxidil syndrome
- ORPHA:295 Fetal parvovirus syndrome
- ORPHA:1906 Fetal valproate spectrum disorder
- OMIM:300321 Fg syndrome 2
- OMIM:300422 Fg syndrome 4
- ORPHA:93932 FG syndrome type 1
- ORPHA:313855 FGFR2-related bent bone dysplasia
- ORPHA:2021 Fibrochondrogenesis
- OMIM:228520 Fibrochondrogenesis 1
- OMIM:614524 Fibrochondrogenesis 2
- OMIM:619329 Fibromuscular dysplasia, multifocal
- OMIM:228800 Fibrosclerosis, multifocal
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- ORPHA:93323 Fibular hemimelia
- ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome
- ORPHA:79292 Fish-eye disease
- ORPHA:1968 Flat face-microstomia-ear anomaly syndrome
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:83451 Florid cemento-osseous dysplasia
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- OMIM:227260 Focal facial dermal dysplasia 3, Setleis type
- ORPHA:1807 Focal facial dermal dysplasia type III
- OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- ORPHA:79093 Foix-Alajouanine syndrome
- OMIM:229050 Folate malabsorption, hereditary
- ORPHA:79097 Folinic acid-responsive seizures
- ORPHA:545 Follicular lymphoma
- OMIM:612289 Fontaine progeroid syndrome
- ORPHA:228371 Foodborne botulism
- ORPHA:561854 FOXG1 syndrome
- ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion
- ORPHA:137834 Frank-Ter Haar syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- OMIM:617666 Fraser syndrome 2
- ORPHA:834 Free sialic acid storage disease
- ORPHA:2053 Freeman-Sheldon syndrome
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:615911 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- OMIM:616437 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
- OMIM:616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- OMIM:613954 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
- ORPHA:275872 Frontotemporal dementia with motor neuron disease
- 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
- ORPHA:637 Full NF2-related schwannomatosis
- OMIM:606812 Fumarase deficiency
- ORPHA:91348 Functioning gonadotropic adenoma
- 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
- OMIM:230200 Galactokinase deficiency
- ORPHA:79238 Galactose epimerase deficiency
- OMIM:230350 Galactose epimerase deficiency
- ORPHA:570422 Galactose mutarotase deficiency
- OMIM:230400 GALACTOSEMIA
- ORPHA:352 Galactosemia
- OMIM:618881 Galactosemia IV
- OMIM:256540 Galactosialidosis
- OMIM:600803 Gallbladder disease 1
- OMIM:611465 Gallbladder disease 4
- ORPHA:100086 Gallbladder neuroendocrine tumor
- OMIM:137040 Gallbladder, agenesis of
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:301006 Galloway-Mowat syndrome 2, X-linked
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:617730 Galloway-Mowat syndrome 4
- OMIM:619603 Galloway-Mowat syndrome 9
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:251992 Ganglioneuroma
- OMIM:230740 Gapo syndrome
- ORPHA:2067 GAPO syndrome
- ORPHA:79665 Gardner syndrome
- OMIM:619182 Gastric adenocarcinoma and proximal polyposis of the stomach
- OMIM:137215 Gastric cancer, hereditary diffuse
- OMIM:613659 Gastric cancer, somatic
- OMIM:137245 Gastric lymphoma, primary
- OMIM:137210 Gastric volvulus, intrathoracic
- OMIM:137280 Gastritis, familial giant hypertrophic
- OMIM:137270 Gastrocutaneous syndrome
- ORPHA:2069 Gastrocutaneous syndrome
- OMIM:109350 Gastroesophageal reflux
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- OMIM:619708 Gastrointestinal defects and immunodeficiency syndrome 2
- OMIM:606764 Gastrointestinal stromal tumor
- ORPHA:44890 Gastrointestinal stromal tumor
- OMIM:175510 Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial
- OMIM:618372 Gastrointestinal ulceration, recurrent, with dysfunctional platelets
- ORPHA:2368 Gastroschisis
- OMIM:230750 Gastroschisisabdominal wall defects, included
- 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
- OMIM:617809 Geleophysic dysplasia 3
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:411777 Generalized eruptive keratoacanthoma
- ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli
- ORPHA:171876 Generalized pseudohypoaldosteronism type 1
- ORPHA:254704 Genetic hyperferritinemia without iron overload
- ORPHA:656 Genetic steroid-resistant nephrotic syndrome
- ORPHA:226316 Genetic transient congenital hypothyroidism
- ORPHA:2075 Genitopalatocardiac syndrome
- ORPHA:85201 Genitopatellar syndrome
- OMIM:606170 Genitopatellar syndrome
- OMIM:618820 Genitourinary and/or/brain malformation syndrome
- ORPHA:2077 German syndrome
- ORPHA:1802 Ghosal hematodiaphyseal dysplasia
- OMIM:256850 Giant axonal neuropathy 1, autosomal recessive
- ORPHA:397 Giant cell arteritis
- OMIM:137560 Giant platelet syndrome with thrombocytopenia
- OMIM:143500 Gilbert syndrome
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- OMIM:273800 Glanzmann thrombasthenia
- ORPHA:849 Glanzmann thrombasthenia
- OMIM:612313 Glass syndrome
- OMIM:619243 Global developmental delay with speech and behavioral abnormalities
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- ORPHA:83454 Glomuvenous malformation
- ORPHA:221098 Glossopharyngeal neuralgia
- ORPHA:97280 Glucagonoma
- ORPHA:35710 Glucose-galactose malabsorption
- OMIM:606824 Glucose/galactose malabsorption
- OMIM:612126 Glut1 deficiency syndrome 2
- OMIM:231630 Glutamate monosodium sensitivity
- ORPHA:33574 Glutamate-cysteine ligase deficiency
- OMIM:231670 Glutaric acidemia I
- OMIM:231690 Glutaric aciduria III
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- OMIM:307030 Glycerol kinase deficiency
- ORPHA:407 Glycine encephalopathy
- OMIM:617301 Glycine encephalopathy with normal serum glycine
- OMIM:606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset
- 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:2089 Glycogen storage disease due to hepatic glycogen synthase 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
- OMIM:232700 Glycogen storage disease VI
- OMIM:232800 Glycogen storage disease VII
- OMIM:611881 Glycogen storage disease XII
- 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:2090 GMS syndrome
- ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome
- ORPHA:66629 Goldberg-Shprintzen megacolon syndrome
- OMIM:609460 Goldberg-Shprintzen syndrome
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- ORPHA:206484 Gonadoblastoma
- ORPHA:169105 Good syndrome
- ORPHA:2095 Gorlin-Chaudhry-Moss syndrome
- OMIM:602361 Gracile bone dysplasia
- OMIM:603358 Gracile syndrome
- ORPHA:53693 GRACILE syndrome
- ORPHA:39812 Graft versus host disease
- ORPHA:900 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
- 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:380 Greig cephalopolysyndactyly syndrome
- ORPHA:97261 GRFoma
- ORPHA:381 Griscelli syndrome
- ORPHA:79477 Griscelli syndrome type 2
- OMIM:607624 Griscelli syndrome, type 2
- ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- OMIM:262400 Growth hormone deficiency, isolated, type IA
- OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
- OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
- OMIM:612938 Growth retardation, developmental delay, coarse facies, and earlydeath
- OMIM:617093 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- ORPHA:99803 Haddad syndrome
- OMIM:612946 Hadziselimovic syndrome
- OMIM:234250 Hall-Riggs mental retardation syndrome
- ORPHA:2107 Hall-Riggs syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234350 Halothane hepatitis
- OMIM:611174 Hamamy syndrome
- OMIM:618892 Harderoporphyria
- OMIM:301068 Hardikar syndrome
- OMIM:617183 Harel-Yoon syndrome
- OMIM:601095 Harrod syndrome
- ORPHA:2116 Hartnup disease
- ORPHA:163596 Hb Bart's hydrops fetalis
- OMIM:616920 Heart and brain malformation syndrome
- OMIM:600263 Helicobacter pylori infection, susceptibility to
- ORPHA:244242 HELLP syndrome
- OMIM:615873 Helsmoortel-van der Aa syndrome
- ORPHA:252054 Hemangioblastoma
- OMIM:614034 Heme oxygenase-1 deficiency
- ORPHA:79230 Hemochromatosis type 2
- ORPHA:139491 Hemochromatosis type 4
- OMIM:231100 Hemochromatosis, neonatal
- 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:301015 Hemolytic anemia, congenital, X-linked
- 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: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:235510 Hennekam lymphangiectasia-lymphedema syndrome
- OMIM:616006 Hennekam lymphangiectasia-lymphedema syndrome 2
- OMIM:618154 Hennekam lymphangiectasia-lymphedema syndrome 3
- ORPHA:2136 Hennekam syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- OMIM:142330 Hepatic adenomas, familial
- ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
- ORPHA:890 Hepatic veno-occlusive disease
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- OMIM:235550 Hepatic venoocclusive disease with immunodeficiency
- OMIM:618549 Hepatitis, fulminant viral, susceptibility to
- OMIM:114550 Hepatocellular carcinoma
- 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:145 Hereditary breast and ovarian cancer syndrome
- ORPHA:30925 Hereditary central diabetes insipidus
- ORPHA:676 Hereditary chronic pancreatitis
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:288 Hereditary elliptocytosis
- ORPHA:90045 Hereditary folate malabsorption
- ORPHA:469 Hereditary fructose intolerance
- ORPHA:774 Hereditary hemorrhagic telangiectasia
- ORPHA:3197 Hereditary hyperekplexia
- ORPHA:411602 Hereditary late-onset Parkinson disease
- ORPHA:523 Hereditary leiomyomatosis and renal cell cancer
- ORPHA:157794 Hereditary mixed polyposis syndrome
- ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type
- ORPHA:1839 Hereditary mucoepithelial dysplasia
- 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:94088 Hereditary renal hypouricemia
- ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:822 Hereditary spherocytosis
- ORPHA:3467 Hereditary xanthinuria
- ORPHA:79430 Hermansky-Pudlak syndrome
- OMIM:203300 Hermansky-Pudlak syndrome 1
- OMIM:617050 Hermansky-Pudlak syndrome 10
- OMIM:608233 Hermansky-Pudlak syndrome 2
- OMIM:142350 Hernia, double inguinal
- OMIM:142400 Hernia, hiatus
- ORPHA:1930 Herpes simplex virus encephalitis
- 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
- ORPHA:84085 Hinman syndrome
- ORPHA:388 Hirschsprung disease
- OMIM:235760 Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures
- OMIM:235740 Hirschsprung disease with polydactyly, renal agenesis, and deafness
- OMIM:306980 Hirschsprung disease with type D brachydactyly
- OMIM:235750 Hirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect
- OMIM:613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction
- OMIM:142623 Hirschsprung disease, susceptibility to, 1
- OMIM:600155 Hirschsprung disease, susceptibility to, 2
- OMIM:613711 Hirschsprung disease, susceptibility to, 3
- OMIM:613712 Hirschsprung disease, susceptibility to, 4
- OMIM:600156 Hirschsprung disease, susceptibility to, 5
- ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome
- ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome
- ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome
- ORPHA:137675 Histiocytoid cardiomyopathy
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- OMIM:605911 HMG-CoA synthase-2 deficiency
- ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:98293 Hodgkin lymphoma
- ORPHA:79242 Holocarboxylase synthetase deficiency
- OMIM:253270 Holocarboxylase synthetase deficiency
- ORPHA:2162 Holoprosencephaly
- OMIM:614226 Holoprosencephaly 11
- OMIM:301043 Holoprosencephaly 13, X-linked
- OMIM:157170 Holoprosencephaly 2
- OMIM:610828 Holoprosencephaly 7
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome
- ORPHA:2167 Holzgreve syndrome
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:622 Homocystinuria without methylmalonic aciduria
- OMIM:250940 Homocystinuria-megaloblastic anemia, cblg Complementation type
- OMIM:606528 Homozygous 11p15-p14 deletion syndrome
- ORPHA:391665 Homozygous familial hypercholesterolemia
- ORPHA:391417 HSD10 disease
- ORPHA:391428 HSD10 disease, infantile type
- ORPHA:391457 HSD10 disease, neonatal type
- ORPHA:228116 Hughes-Stovin syndrome
- OMIM:611962 Hunter-Macdonald syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:93476 Hurler-Scheie syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- OMIM:236450 Hutterite cerebroosteonephrodysplasia syndrome
- OMIM:228600 Hyaline fibromatosis syndrome
- ORPHA:99927 Hydatidiform mole
- OMIM:236640 Hydrocephalus with associated malformations
- OMIM:236690 Hydrocephalus, normal pressure, 1
- ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome
- ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome
- OMIM:236680 Hydrolethalus syndrome 1
- ORPHA:1041 Hydrops fetalis
- OMIM:617021 Hydrops, lactic acidosis, and sideroblastic anemia
- OMIM:236800 Hydroxykynureninuria
- OMIM:260920 Hyper-Igd syndrome
- OMIM:618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive
- OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive
- ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency
- OMIM:237550 Hyperbilirubinemia, conjugated, type III
- OMIM:237900 Hyperbilirubinemia, familial transient neonatal
- OMIM:237450 Hyperbilirubinemia, Rotor type, digenic
- OMIM:237800 Hyperbilirubinemia, shunt, primary
- OMIM:614156 Hyperbiliverdinemia
- OMIM:143880 Hypercalcemia, infantile, 1
- OMIM:143860 Hyperchlorhidrosis, isolated
- OMIM:607748 Hypercholanemia, familial
- OMIM:619256 Hypercholanemia, familial 2
- ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- OMIM:149400 Hyperekplexia 1
- OMIM:614619 Hyperekplexia 2
- OMIM:614618 Hyperekplexia 3
- OMIM:618011 Hyperekplexia 4
- OMIM:607685 Hypereosinophilic syndrome, idiopathic
- OMIM:614462 Hyperglycinemia, lactic acidosis, and seizures
- ORPHA:343 Hyperimmunoglobulinemia D with periodic fever
- OMIM:256450 Hyperinsulinemic hypoglycemia, familial, 1
- OMIM:601820 Hyperinsulinemic hypoglycemia, familial, 2
- OMIM:609975 Hyperinsulinemic hypoglycemia, familial, 4
- OMIM:606762 Hyperinsulinemic hypoglycemia, familial, 6
- OMIM:610021 Hyperinsulinemic hypoglycemia, familial, 7
- 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
- OMIM:615947 Hyperlipoproteinemia, type ID
- ORPHA:2203 Hyperlysinemia
- OMIM:238750 Hyperlysinuria with hyperammonemia
- OMIM:613280 Hypermanganesemia with dystonia 1
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- OMIM:238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
- ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- OMIM:145001 Hyperparathyroidism 2
- OMIM:239199 Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
- OMIM:239200 Hyperparathyroidism, neonatal severe
- OMIM:618188 Hyperparathyroidism, transient neonatal
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome
- OMIM:261640 Hyperphenylalaninemia, BH4-deficient, A
- OMIM:233910 Hyperphenylalaninemia, BH4-deficient, B
- OMIM:261630 Hyperphenylalaninemia, bh4-deficient, C
- OMIM:239300 Hyperphosphatasia with mental retardation
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:239350 Hyperphosphatemia, polyuria, and seizures
- ORPHA:79101 Hyperprolinemia type 2
- OMIM:614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
- OMIM:145590 Hyperthermia, cutaneous, with headaches and nausea
- OMIM:239850 Hypertrichotic osteochondrodysplasia
- OMIM:614480 Hypertriglyceridemia, transient infantile
- OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant
- OMIM:614441 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- OMIM:601979 Hyperzincemia with functional zinc depletion
- OMIM:240200 Hypoadrenocorticism, familial
- OMIM:615558 Hypobetalipoproteinemia, familial, 1
- ORPHA:289157 Hypocalcemic vitamin D-dependent rickets
- OMIM:145980 Hypocalciuric hypercalcemia, familial, type I
- OMIM:145981 Hypocalciuric hypercalcemia, familial, type II
- OMIM:600740 Hypocalciuric hypercalcemia, familial, type III
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- OMIM:612776 Hypoglossia with situs inversus
- ORPHA:989 Hypoglossia-hypodactyly syndrome
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- ORPHA:238468 Hypohidrotic ectodermal dysplasia
- ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy
- OMIM:241150 Hypokalemic alkalosis, familial, with specific renal tubulopathy
- OMIM:248250 Hypomagnesemia 3, renal
- ORPHA:436 Hypophosphatasia
- OMIM:241500 Hypophosphatasia, infantile
- OMIM:241530 Hypophosphatemic rickets with hypercalciuria, hereditary
- OMIM:618541 Hypopigmentation, organomegaly, and delayed myelination and development
- ORPHA:722 Hypoplasminogenemia
- OMIM:607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
- ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- 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:275100 Hypothyroidism, congenital, nongoitrous, 4
- OMIM:614450 Hypothyroidism, congenital, nongoitrous, 6
- OMIM:301033 Hypothyroidism, congenital, nongoitrous, 8
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
- OMIM:617915 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
- OMIM:616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome
- ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Code pathologie
Nom de la pathologie
- ORPHA:254509 Iatrogenic botulism
- ORPHA:2268 ICF syndrome
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:601277 Ichthyosis, congenital, autosomal recessive 4A
- OMIM:242520 Ichthyosis, hepatosplenomegaly, and cerebellar degeneration
- OMIM:607626 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
- OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation
- ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- ORPHA:930 Idiopathic achalasia
- ORPHA:724 Idiopathic acute eosinophilic pneumonia
- ORPHA:2902 Idiopathic chronic eosinophilic pneumonia
- ORPHA:95717 Idiopathic congenital hypothyroidism
- ORPHA:209919 Idiopathic copper-associated cirrhosis
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:238624 Idiopathic intracranial hypertension
- ORPHA:45452 Idiopathic neonatal atrial flutter
- 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:422 Idiopathic/heritable pulmonary arterial hypertension
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- ORPHA:555905 IgA pemphigus
- 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:64744 IgG4-related thyroid disease
- ORPHA:100078 Ileal neuroendocrine tumor
- OMIM:618786 Imagawa-Matsumoto syndrome
- 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:301082 Immunodeficiency 102
- OMIM:619924 Immunodeficiency 105, severe combined
- OMIM:260570 Immunodeficiency 108 with autoinflammation
- OMIM:615513 Immunodeficiency 14
- OMIM:619281 Immunodeficiency 14B, autosomal recessive
- OMIM:615592 Immunodeficiency 15
- OMIM:615593 Immunodeficiency 16
- OMIM:615607 Immunodeficiency 17
- OMIM:615615 Immunodeficiency 18
- OMIM:615617 Immunodeficiency 19
- OMIM:615758 Immunodeficiency 22
- OMIM:615816 Immunodeficiency 23
- OMIM:610163 Immunodeficiency 25
- OMIM:209950 Immunodeficiency 27A, mycobacteriosis, AR
- OMIM:614162 Immunodeficiency 31C
- OMIM:226990 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
- OMIM:616005 Immunodeficiency 36
- OMIM:616098 Immunodeficiency 37
- OMIM:616433 Immunodeficiency 40
- OMIM:606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity
- 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:615207 Immunodeficiency 56
- OMIM:618108 Immunodeficiency 57
- OMIM:618131 Immunodeficiency 58
- OMIM:233600 Immunodeficiency 59 and hypoglycemia
- OMIM:618394 Immunodeficiency 60
- OMIM:300310 Immunodeficiency 61
- OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity
- OMIM:618534 Immunodeficiency 64
- OMIM:618648 Immunodeficiency 65, susceptibility to viral infections
- OMIM:607676 Immunodeficiency 67
- 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:608203 Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis
- OMIM:618986 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
- 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:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619437 Immunodeficiency 84
- OMIM:619510 Immunodeficiency 85 and autoimmunity
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:619632 Immunodeficiency 89 and autoimmunity
- OMIM:619644 Immunodeficiency 91 and hyperinflammation
- OMIM:619652 Immunodeficiency 92
- OMIM:619705 Immunodeficiency 93 and hypertrophic cardiomyopathy
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:619802 Immunodeficiency 97 with autoinflammation
- OMIM:301078 Immunodeficiency 98 with autoinflammation, X-linked
- ORPHA:572 Immunodeficiency by defective expression of MHC class II
- OMIM:613860 Immunodeficiency due to ficolin 3 deficiency
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- OMIM:605258 Immunodeficiency with hyper-igm, type 2
- OMIM:608184 Immunodeficiency with hyper-IgM, type 4
- OMIM:607594 Immunodeficiency, common variable, 1
- OMIM:615577 Immunodeficiency, common variable, 10
- OMIM:615767 Immunodeficiency, common variable, 11
- OMIM:616576 Immunodeficiency, common variable, 12
- OMIM:617765 Immunodeficiency, common variable, 14
- OMIM:240500 Immunodeficiency, common variable, 2
- 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:308230 Immunodeficiency, X-linked, with hyper-IgM
- OMIM:300853 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
- OMIM:242860 Immunodeficiency-Centromeric instability-facial anomalies syndrome
- OMIM:304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
- OMIM:137100 Immunoglobulin A deficiency 1
- OMIM:609529 Immunoglobulin A deficiency 2
- ORPHA:761 Immunoglobulin A vasculitis
- OMIM:614102 Immunoglobulin kappa light chain deficiency
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- OMIM:617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- OMIM:147421 Inclusion body myositis
- ORPHA:611 Inclusion body myositis
- ORPHA:464 Incontinentia pigmenti
- ORPHA:98848 Indolent systemic mastocytosis
- ORPHA:178478 Infant botulism
- ORPHA:238455 Infantile dystonia-parkinsonism
- ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- ORPHA:206436 Infantile Krabbe disease
- OMIM:615438 Infantile liver failure syndrome 1
- OMIM:616483 Infantile liver failure syndrome 2
- OMIM:618641 Infantile liver failure syndrome 3
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:2591 Infantile myofibromatosis
- ORPHA:411629 Infantile nephropathic cystinosis
- ORPHA:35069 Infantile neuroaxonal dystrophy
- ORPHA:79263 Infantile neuronal ceroid lipofuscinosis
- ORPHA:772 Infantile Refsum disease
- OMIM:269920 Infantile sialic acid storage disease
- ORPHA:2176 Infantile systemic hyalinosis
- ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy
- ORPHA:544482 Infection-related hemolytic uremic syndrome
- OMIM:613759 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
- OMIM:619079 Inflammatory bowel disease (Crohn disease) 30
- OMIM:619398 Inflammatory bowel disease (infantile ulcerative colitis) 31
- OMIM:266600 Inflammatory bowel disease 1, Crohn disease
- OMIM:191390 Inflammatory bowel disease 11
- OMIM:612244 Inflammatory bowel disease 13
- OMIM:612278 Inflammatory bowel disease 19
- OMIM:612354 Inflammatory bowel disease 21
- OMIM:612567 Inflammatory bowel disease 25, early onset, autosomal recessive
- OMIM:613148 Inflammatory bowel disease 28, early onset, autosomal recessive
- OMIM:618077 Inflammatory bowel disease 29
- OMIM:604519 Inflammatory bowel disease 3
- OMIM:618213 Inflammatory bowel disease, immunodeficiency, and encephalopathy
- ORPHA:90003 Inflammatory pseudotumor of the liver
- OMIM:614328 Inflammatory skin and bowel disease, neonatal, 1
- OMIM:616069 Inflammatory skin and bowel disease, neonatal, 2
- OMIM:600989 Infundibulopelvic dysgenesis
- ORPHA:247257 Inhalational anthrax
- ORPHA:254504 Inhalational botulism
- ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- ORPHA:63259 Iniencephaly
- ORPHA:2298 Insulin-resistance syndrome type B
- ORPHA:97279 Insulinoma
- OMIM:606960 Insulinoma tumor suppressor gene locus
- OMIM:147630 Insulinomatosis and diabetes mellitus
- OMIM:618009 Intellectual developmental disorder 61
- OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
- OMIM:615032 Intellectual developmental disorder with autism and macrocephaly
- OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- OMIM:617333 Intellectual developmental disorder with dysmorphic facies and ptosis
- OMIM:617452 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
- OMIM:618092 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
- OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
- OMIM:618748 Intellectual developmental disorder with hypotonia and behavioral abnormalities
- OMIM:619556 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:619911 Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
- OMIM:618158 Intellectual developmental disorder with macrocephaly, seizures, and speech delay
- OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
- OMIM:618060 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
- OMIM:619844 Intellectual developmental disorder with or without peripheral neuropathy
- OMIM:618672 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
- OMIM:615502 Intellectual developmental disorder, autosomal dominant 21
- OMIM:612337 Intellectual developmental disorder, autosomal dominant 22
- OMIM:615761 Intellectual developmental disorder, autosomal dominant 23
- OMIM:615834 Intellectual developmental disorder, autosomal dominant 26
- OMIM:616579 Intellectual developmental disorder, autosomal dominant 40
- OMIM:616977 Intellectual developmental disorder, autosomal dominant 43
- OMIM:617601 Intellectual developmental disorder, autosomal dominant 46
- OMIM:617751 Intellectual developmental disorder, autosomal dominant 48
- OMIM:617788 Intellectual developmental disorder, autosomal dominant 51
- OMIM:617796 Intellectual developmental disorder, autosomal dominant 52
- OMIM:617798 Intellectual developmental disorder, autosomal dominant 53
- OMIM:617799 Intellectual developmental disorder, autosomal dominant 54
- OMIM:617854 Intellectual developmental disorder, autosomal dominant 56
- OMIM:618106 Intellectual developmental disorder, autosomal dominant 58
- OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures
- OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
- OMIM:619188 Intellectual developmental disorder, autosomal dominant 64
- OMIM:619927 Intellectual developmental disorder, autosomal dominant 67
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:615637 Intellectual developmental disorder, autosomal recessive 41
- OMIM:618103 Intellectual developmental disorder, autosomal recessive 64
- OMIM:618109 Intellectual developmental disorder, autosomal recessive 65
- OMIM:618504 Intellectual developmental disorder, autosomal recessive 71
- OMIM:619717 Intellectual developmental disorder, autosomal recessive 73
- OMIM:619931 Intellectual developmental disorder, autosomal recessive 76
- OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
- OMIM:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:166108 Intellectual disability, Birk-Barel type
- ORPHA:3079 Intellectual disability, Buenos-Aires type
- ORPHA:3080 Intellectual disability, Wolff type
- ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome
- ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria 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:468620 Intellectual disability-epilepsy-extrapyramidal syndrome
- ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
- ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked
- ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome
- ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome
- ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome
- ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
- ORPHA:363528 Intellectual disability-strabismus syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- ORPHA:171433 Intermediate nemaline myopathy
- ORPHA:210110 Intermediate osteopetrosis
- OMIM:615486 Interstitial lung and liver disease
- ORPHA:178481 Intestinal botulism
- OMIM:620045 Intestinal dysmotility syndrome
- OMIM:300048 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
- ORPHA:69665 Intrahepatic cholestasis of pregnancy
- OMIM:618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- OMIM:243320 Intrinsic factor and R binder, combined congenital deficiency of
- OMIM:261000 Intrinsic factor deficiency
- OMIM:147710 INTUSSUSCEPTION
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- ORPHA:209981 IRIDA syndrome
- OMIM:620121 Iron overload, susceptibility to
- ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:563609 Isolated anencephaly
- ORPHA:30391 Isolated biliary atresia
- ORPHA:209908 Isolated childhood apraxia of speech
- ORPHA:199302 Isolated cleft lip
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:91416 Isolated congenital alacrima
- ORPHA:141152 Isolated congenital hypoglossia/aglossia
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- ORPHA:2128 Isolated hemihyperplasia
- ORPHA:2345 Isolated Klippel-Feil syndrome
- ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:2924 Isolated polycystic liver disease
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:457083 Isolated splenogonadal fusion
- ORPHA:3208 Isolated succinate-CoQ reductase deficiency
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- ORPHA:2306 Isotretinoin-like syndrome
- OMIM:243500 Isovaleric acidemia
- ORPHA:2307 IVIC syndrome
- OMIM:147750 Ivic syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- ORPHA:79139 Japanese encephalitis
- OMIM:308600 Jaundice, familial obstructive, of infancy
- OMIM:243600 Jejunal atresia
- ORPHA:100077 Jejunal neuroendocrine tumor
- ORPHA:474 Jeune syndrome
- OMIM:243800 Johanson-Blizzard syndrome
- ORPHA:2315 Johanson-Blizzard syndrome
- OMIM:617662 Joint laxity, short stature, and myopia
- ORPHA:475 Joubert syndrome
- OMIM:213300 Joubert syndrome 1
- OMIM:300804 Joubert syndrome 10
- OMIM:614815 Joubert syndrome 18
- OMIM:619185 Joubert syndrome 37
- OMIM:610688 Joubert syndrome 6
- OMIM:612291 Joubert syndrome 8
- OMIM:612285 Joubert syndrome 9
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:220493 Joubert syndrome with ocular defect
- ORPHA:2318 Joubert syndrome with oculorenal defect
- ORPHA:220497 Joubert syndrome with renal defect
- ORPHA:2319 Juberg-Hayward syndrome
- ORPHA:79405 Junctional epidermolysis bullosa inversa
- ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia
- ORPHA:300605 Juvenile amyotrophic lateral sclerosis
- ORPHA:93672 Juvenile dermatomyositis
- ORPHA:2028 Juvenile hyaline fibromatosis
- ORPHA:92 Juvenile idiopathic arthritis
- ORPHA:289596 Juvenile nasopharyngeal angiofibroma
- ORPHA:411634 Juvenile nephropathic cystinosis
- ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis
- 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:247604 Juvenile primary lateral sclerosis
- ORPHA:93399 Juvenile sialidosis type 2
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:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- ORPHA:2326 Kallmann syndrome-heart disease syndrome
- 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
- OMIM:619125 Kaya-Barakat-Masson syndrome
- ORPHA:2332 KBG syndrome
- ORPHA:439218 KCNQ2-related epileptic encephalopathy
- ORPHA:293807 Ketamine-induced biliary dilatation
- OMIM:618460 Khan-Khan-Katsanis syndrome
- ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome
- ORPHA:50918 Kikuchi-Fujimoto disease
- OMIM:619080 Kilquist syndrome
- ORPHA:2908 Kindler epidermolysis bullosa
- OMIM:173650 Kindler syndrome
- OMIM:619297 KINSSHIP 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
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:156550 Kniest dysplasia
- OMIM:245190 Kniest-Like dysplasia, lethal
- ORPHA:1571 Knobloch syndrome
- OMIM:618458 Knobloch syndrome 2
- OMIM:267750 Knobloch syndrome, type 1
- OMIM:619229 Kohlschutter-Tonz syndrome-like
- OMIM:610443 Koolen-De Vries syndrome
- ORPHA:96169 Koolen-De Vries syndrome
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
- OMIM:245200 Krabbe disease
- OMIM:611722 Krabbe disease, atypical, due to saposin A deficiency
- ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma
- OMIM:606693 Kufor-Rakeb syndrome
- ORPHA:306674 Kufor-Rakeb syndrome
- OMIM:619762 Kury-Isidor syndrome
- ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome
- ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Code pathologie
Nom de la pathologie
- ORPHA:275543 L1 syndrome
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- OMIM:223000 Lactase deficiency, congenital
- OMIM:223100 Lactase persistence/nonpersistence
- OMIM:245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID
- ORPHA:501 Lafora disease
- ORPHA:530983 Lamb-Shaffer syndrome
- OMIM:245550 Lambert syndrome
- ORPHA:1296 Lambert syndrome
- ORPHA:43393 Lambert-Eaton myasthenic 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:150260 Laryngeal abductor paralysis
- ORPHA:100083 Laryngeal neuroendocrine tumor
- ORPHA:137935 Laryngotracheal angioma
- ORPHA:2004 Laryngotracheoesophageal cleft
- ORPHA:93941 Laryngotracheoesophageal cleft type 4
- ORPHA:99824 Lassa fever
- ORPHA:206443 Late-infantile/juvenile Krabbe disease
- ORPHA:556037 Late-onset familial hypoaldosteronism
- ORPHA:199299 Late-onset isolated ACTH deficiency
- ORPHA:79406 Late-onset junctional epidermolysis bullosa
- OMIM:130720 Lateral meningocele syndrome
- ORPHA:2789 Lateral meningocele syndrome
- OMIM:601086 Laterality defects, autosomal dominant
- OMIM:607330 Lathosterolosis
- ORPHA:46059 Lathosterolosis
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:330015 Lead poisoning
- OMIM:204000 Leber congenital amaurosis, type I
- OMIM:500001 Leber optic atrophy and dystonia
- OMIM:246000 Leg, absence deformity of, with congenital cataract
- ORPHA:549 Legionnaires disease
- ORPHA:137605 Legius syndrome
- OMIM:256000 Leigh syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:70474 Leigh syndrome with cardiomyopathy
- ORPHA:255249 Leigh syndrome with nephrotic syndrome
- OMIM:220111 Leigh syndrome, french Canadian type
- OMIM:150700 Leiomyoma of vulva and esophagus
- OMIM:308940 Leiomyomatosis, diffuse, with alport syndrome
- ORPHA:507 Leishmaniasis
- OMIM:151050 Lenz-Majewski hyperostotic dwarfism
- ORPHA:2658 Lenz-Majewski hyperostotic dwarfism
- ORPHA:508 Leprechaunism
- ORPHA:548 Leprosy
- ORPHA:509 Leptospirosis
- OMIM:300322 Lesch-Nyhan syndrome
- OMIM:619149 Lessel-Kreienkamp syndrome
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:616286 Lethal congenital contracture syndrome 7
- OMIM:616287 Lethal congenital contracture syndrome 8
- ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome
- ORPHA:254857 Lethal infantile mitochondrial myopathy
- ORPHA:2347 Lethal Kniest-like dysplasia
- ORPHA:2736 Lethal omphalocele-cleft palate syndrome
- OMIM:246400 Letterer-Siwe disease
- OMIM:246470 Leukemia, acute myelocytic, with polyposis coli and colon cancer
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:116920 Leukocyte adhesion deficiency, type I
- OMIM:612840 Leukocyte adhesion deficiency, type III
- OMIM:169500 Leukodystrophy, adult-onset, autosomal dominant
- OMIM:619864 Leukodystrophy, childhood-onset, remitting
- OMIM:616683 Leukodystrophy, hypomyelinating, 12
- OMIM:616881 Leukodystrophy, hypomyelinating, 13
- OMIM:617899 Leukodystrophy, hypomyelinating, 14
- OMIM:617951 Leukodystrophy, hypomyelinating, 15
- OMIM:617964 Leukodystrophy, hypomyelinating, 16
- OMIM:618006 Leukodystrophy, hypomyelinating, 17
- OMIM:618404 Leukodystrophy, hypomyelinating, 18
- OMIM:619071 Leukodystrophy, hypomyelinating, 20
- OMIM:619310 Leukodystrophy, hypomyelinating, 21
- OMIM:260600 Leukodystrophy, hypomyelinating, 3
- OMIM:612233 Leukodystrophy, hypomyelinating, 4
- OMIM:607694 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism
- OMIM:614381 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
- OMIM:618877 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
- OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- ORPHA:65285 Lhermitte-Duclos disease
- OMIM:619189 Li-Campeau syndrome
- OMIM:151623 Li-Fraumeni syndrome
- ORPHA:524 Li-Fraumeni syndrome
- OMIM:609265 Li-Fraumeni syndrome 2
- OMIM:618974 Li-Ghorgani-Weisz-Hubshman syndrome
- ORPHA:525 Lichen planopilaris
- ORPHA:526 Liddle syndrome
- ORPHA:99812 LIG4 syndrome
- ORPHA:2369 Limb body wall complex
- ORPHA:220402 Limited cutaneous systemic sclerosis
- ORPHA:46488 Linear IgA dermatosis
- OMIM:309801 Linear skin defects with multiple congenital anomalies 1
- OMIM:246650 Lipase deficiency, combined
- ORPHA:435660 LIPE-related familial partial lipodystrophy
- OMIM:255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase 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:530 Lipoid proteinosis
- ORPHA:69078 Liposarcoma
- OMIM:616299 Lipoyltransferase 1 deficiency
- OMIM:614019 Lissencephaly 4
- OMIM:618325 Lissencephaly 9 with complex brainstem malformation
- ORPHA:95232 Lissencephaly due to LIS1 mutation
- ORPHA:171680 Lissencephaly due to TUBA1A mutation
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation
- OMIM:300215 Lissencephaly, X-linked, 2
- ORPHA:533 Listeriosis
- OMIM:619991 Liver disease, severe congenital
- OMIM:613070 Liver failure, infantile, transient
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form
- ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form
- ORPHA:90289 Localized scleroderma
- ORPHA:2406 Locked-in syndrome
- OMIM:609192 Loeys-Dietz syndrome 1
- OMIM:610168 Loeys-Dietz syndrome 2
- OMIM:613795 Loeys-Dietz syndrome 3
- OMIM:614816 Loeys-Dietz syndrome 4
- OMIM:615582 Loeys-Dietz syndrome 5
- ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency
- OMIM:617435 Lopes-Maciel-Rodan syndrome
- ORPHA:69663 Low phospholipid-associated cholelithiasis
- OMIM:309000 Lowe syndrome
- ORPHA:2408 Lowe-Kohn-Cohen syndrome
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- ORPHA:276435 Lower motor neuron syndrome with late-adult onset
- ORPHA:2409 Lowry-MacLean syndrome
- ORPHA:319213 Lujo hemorrhagic fever
- ORPHA:83628 LUMBAR 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
- ORPHA:538 Lymphangioleiomyomatosis
- OMIM:620014 Lymphatic malformation 12
- OMIM:617300 Lymphatic malformation 7
- OMIM:601927 Lymphedema, cardiac septal defects, and characteristic facies
- OMIM:616843 Lymphedema, hereditary, III
- 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
- OMIM:120435 Lynch syndrome I
- 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:606369 Macrocephaly and epileptic encephalopathy
- 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
- OMIM:248000 Macrocephaly/megalencephaly syndrome, autosomal recessive
- ORPHA:158061 Macrophage activation syndrome
- ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:79457 Maculopapular cutaneous mastocytosis
- ORPHA:137867 Madras motor neuron disease
- 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:210272 Mal de débarquement
- ORPHA:556 Malakoplakia
- ORPHA:420179 Malan overgrowth syndrome
- ORPHA:673 Malaria
- OMIM:617596 Maleylacetoacetate isomerase deficiency
- OMIM:602248 Malignant atrophic papulosis
- ORPHA:679 Malignant atrophic papulosis
- ORPHA:423 Malignant hyperthermia of anesthesia
- ORPHA:168811 Malignant peritoneal mesothelioma
- OMIM:248360 Malonyl-CoA decarboxylase deficiency
- ORPHA:52417 MALT lymphoma
- OMIM:615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- OMIM:248370 Mandibuloacral dysplasia
- OMIM:619127 Mandibuloacral dysplasia progeroid syndrome
- OMIM:610536 Mandibulofacial dysostosis, Guion-Almeida type
- ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome
- OMIM:248450 Manitoba oculotrichoanal syndrome
- ORPHA:52416 Mantle cell lymphoma
- OMIM:248600 Maple syrup urine disease
- OMIM:619322 Marbach-Rustad progeroid syndrome
- ORPHA:99826 Marburg hemorrhagic fever
- ORPHA:221074 Marchiafava-Bignami disease
- ORPHA:2461 Marden-Walker syndrome
- OMIM:248700 Marden-Walker syndrome
- OMIM:616914 Marfan lipodystrophy syndrome
- OMIM:154700 Marfan syndrome
- ORPHA:558 Marfan syndrome
- OMIM:602535 Marshall-Smith syndrome
- OMIM:601346 Martinez-Frias syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:613791 Masp2 deficiency
- ORPHA:66661 Mast cell sarcoma
- OMIM:248900 Mast syndrome
- ORPHA:98292 Mastocytosis
- ORPHA:2209 Maternal phenylketonuria
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:96180 Maternal uniparental disomy of chromosome 4
- ORPHA:96181 Maternal uniparental disomy of chromosome 6
- ORPHA:96183 Maternal uniparental disomy of chromosome 9
- ORPHA:261519 Maternal uniparental disomy of chromosome X
- ORPHA:225 Maternally-inherited diabetes and deafness
- ORPHA:2470 Matthew-Wood syndrome
- OMIM:609812 Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction
- ORPHA:562 McCune-Albright syndrome
- OMIM:174800 McCune-Albright syndrome, somatic, mosaic
- 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
- OMIM:155140 Meckel diverticulum
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:619879 Meckel syndrome 14
- OMIM:607361 Meckel syndrome 3
- OMIM:614175 Meckel syndrome, type 10
- OMIM:603194 Meckel syndrome, type 2
- OMIM:611134 Meckel syndrome, type 4
- OMIM:611561 Meckel syndrome, type 5
- OMIM:612284 Meckel syndrome, type 6
- OMIM:267010 Meckel syndrome, type 7
- OMIM:613885 Meckel syndrome, type 8
- OMIM:614665 Meconium ileus
- OMIM:602199 Medium chain 3-ketoacyl-coa thiolase deficiency
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- ORPHA:171851 MEDNIK syndrome
- ORPHA:1332 Medullary thyroid carcinoma
- ORPHA:616 Medulloblastoma
- ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
- OMIM:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
- OMIM:619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
- OMIM:619362 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
- OMIM:619365 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
- OMIM:619431 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
- OMIM:613925 Megalencephalic leukoencephalopathy with subcortical cysts 2A
- OMIM:613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
- OMIM:249310 Megalocornea-Mental retardation syndrome
- OMIM:224690 Meier-Gorlin syndrome 1
- OMIM:613800 Meier-Gorlin syndrome 2
- OMIM:613803 Meier-Gorlin syndrome 3
- OMIM:613804 Meier-Gorlin syndrome 4
- OMIM:613805 Meier-Gorlin syndrome 5
- OMIM:616835 Meier-Gorlin syndrome 6
- OMIM:617063 Meier-Gorlin syndrome 7
- OMIM:606719 Melanoma-Pancreatic cancer syndrome
- ORPHA:31202 Melioidosis
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- ORPHA:2494 Ménétrier disease
- ORPHA:2495 Meningioma
- ORPHA:33475 Meningococcal meningitis
- OMIM:618332 Menke-Hennekam syndrome 1
- OMIM:618333 Menke-Hennekam syndrome 2
- ORPHA:565 Menkes disease
- OMIM:300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
- OMIM:613670 Mental retardation with language impairment and with or without autistic features
- OMIM:156200 Mental retardation, autosomal dominant 1
- OMIM:616158 Mental retardation, autosomal dominant 31
- OMIM:616355 Mental retardation, autosomal dominant 35
- OMIM:616362 Mental retardation, autosomal dominant 36
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:617061 Mental retardation, autosomal dominant 44
- OMIM:617635 Mental retardation, autosomal dominant 47
- OMIM:617787 Mental retardation, autosomal dominant 50
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:614104 Mental retardation, autosomal dominant 7
- OMIM:614249 Mental retardation, autosomal recessive 18
- OMIM:249630 Mental retardation, buenos Aires type
- OMIM:609313 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
- OMIM:309620 Mental retardation, skeletal dysplasia, and abducens palsy
- OMIM:300957 Mental retardation, X-linked 12/35
- OMIM:300912 Mental retardation, X-linked 98
- OMIM:300919 Mental retardation, X-linked 99
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300243 Mental retardation, x-linked syndromic, Christianson type
- OMIM:300260 Mental retardation, x-linked syndromic, Lubs type
- OMIM:300676 Mental retardation, X-linked, syndromic 14
- OMIM:300858 Mental retardation, X-linked, syndromic 17
- OMIM:300966 Mental retardation, X-linked, syndromic 33
- OMIM:300967 Mental retardation, X-linked, syndromic 34
- OMIM:300998 Mental retardation, X-linked, syndromic, 35
- OMIM:300986 Mental retardation, X-linked, syndromic, Bain type
- OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- ORPHA:508093 MEPAN syndrome
- ORPHA:330021 Mercury poisoning
- OMIM:600383 Mesomelia-Synostoses syndrome
- ORPHA:2496 Mesomelia-synostoses syndrome
- OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- OMIM:250100 Metachromatic leukodystrophy
- ORPHA:512 Metachromatic leukodystrophy
- OMIM:249900 Metachromatic leukodystrophy due to saposin B deficiency
- ORPHA:309271 Metachromatic leukodystrophy, adult form
- ORPHA:309263 Metachromatic leukodystrophy, juvenile form
- ORPHA:309256 Metachromatic leukodystrophy, late infantile form
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- ORPHA:31825 Methanol poisoning
- ORPHA:1923 Methimazole embryofetopathy
- OMIM:250900 Methionine malabsorption syndrome
- ORPHA:2169 Methylcobalamin deficiency type cblE
- OMIM:614105 Methylmalonate semialdehyde dehydrogenase deficiency
- ORPHA:26 Methylmalonic acidemia with homocystinuria
- ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD
- OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type
- 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
- OMIM:251100 Methylmalonic aciduria, Cbla type
- OMIM:251110 Methylmalonic aciduria, vitamin B12-responsive, cblB type
- OMIM:251120 Methylmalonyl-Coa epimerase deficiency
- ORPHA:29 Mevalonic aciduria
- OMIM:610377 Mevalonic aciduria
- ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:79329 MGAT2-CDG
- ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency
- OMIM:210710 Microcephalic osteodysplastic primordial dwarfism, type I
- OMIM:210730 Microcephalic osteodysplastic primordial dwarfism, type III
- ORPHA:2617 Microcephalic primordial dwarfism, Montreal type
- ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome
- OMIM:619179 Microcephaly 26, primary, autosomal dominant
- OMIM:619180 Microcephaly 27, primary, autosomal dominant
- OMIM:607196 Microcephaly, Amish type
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome
- OMIM:618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2
- OMIM:613668 Microcephaly, postnatal progressive, with seizures and brain atrophy
- 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:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone 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
- ORPHA:2556 Microphthalmia with linear skin defects syndrome
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:300166 Microphthalmia, syndromic 2
- OMIM:206900 Microphthalmia, syndromic 3
- OMIM:601186 Microphthalmia, syndromic 9
- ORPHA:77299 Microphthalmia-brain atrophy syndrome
- ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome
- ORPHA:727 Microscopic polyangiitis
- OMIM:157150 Microspherophakia with hernia
- ORPHA:2552 Microsporidiosis
- ORPHA:2290 Microvillus inclusion disease
- ORPHA:100084 Middle ear neuroendocrine tumor
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:157300 Migraine with or without aura, susceptibility to, 1
- OMIM:610208 Migraine with or without aura, susceptibility to, 10
- OMIM:610209 Migraine with or without aura, susceptibility to, 11
- OMIM:611706 Migraine with or without aura, susceptibility to, 12
- OMIM:607498 Migraine with or without aura, susceptibility to, 3
- OMIM:607508 Migraine with or without aura, susceptibility to, 5
- OMIM:607516 Migraine with or without aura, susceptibility to, 6
- OMIM:607501 Migraine without aura, susceptibility to, 4
- OMIM:602481 Migraine, familial hemiplegic, 2
- OMIM:300125 Migraine, familial typical, susceptibility to, 2
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:531 Miller-Dieker syndrome
- OMIM:255320 Minicore myopathy with external ophthalmoplegia
- OMIM:617053 Mirage syndrome
- ORPHA:521219 Mirizzi syndrome
- ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome
- OMIM:276300 Mismatch repair cancer syndrome 1
- OMIM:619096 Mismatch repair cancer syndrome 2
- OMIM:619097 Mismatch repair cancer syndrome 3
- OMIM:619101 Mismatch repair cancer syndrome 4
- OMIM:618960 Mitchell syndrome
- OMIM:615710 Mitchell-Riley syndrome
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618233 Mitochondrial complex I deficiency, nuclear type 10
- OMIM:618234 Mitochondrial complex I deficiency, nuclear type 11
- OMIM:618238 Mitochondrial complex I deficiency, nuclear type 16
- OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18
- OMIM:618241 Mitochondrial complex I deficiency, nuclear type 19
- OMIM:618222 Mitochondrial complex I deficiency, nuclear type 2
- OMIM:611126 Mitochondrial complex I deficiency, nuclear type 20
- OMIM:618246 Mitochondrial complex I deficiency, nuclear type 25
- OMIM:618247 Mitochondrial complex I deficiency, nuclear type 26
- OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3
- OMIM:618251 Mitochondrial complex I deficiency, nuclear type 31
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:618776 Mitochondrial complex I deficiency, nuclear type 34
- OMIM:619272 Mitochondrial complex I deficiency, nuclear type 37
- OMIM:618225 Mitochondrial complex I deficiency, nuclear type 4
- OMIM:618226 Mitochondrial complex I deficiency, nuclear type 5
- OMIM:618230 Mitochondrial complex I deficiency, nuclear type 8
- OMIM:618232 Mitochondrial complex I deficiency, nuclear type 9
- OMIM:619167 Mitochondrial complex II deficiency, nuclear type 3
- OMIM:619224 Mitochondrial complex II deficiency, nuclear type 4
- OMIM:124000 Mitochondrial complex III deficiency, nuclear type 1
- OMIM:618775 Mitochondrial complex III deficiency, nuclear type 10
- OMIM:620137 Mitochondrial complex III deficiency, nuclear type 11
- OMIM:615158 Mitochondrial complex III deficiency, nuclear type 3
- OMIM:615160 Mitochondrial complex III deficiency, nuclear type 5
- OMIM:615453 Mitochondrial complex III deficiency, nuclear type 6
- OMIM:615824 Mitochondrial complex III deficiency, nuclear type 7
- OMIM:616111 Mitochondrial complex III deficiency, nuclear type 9
- 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:619059 Mitochondrial complex IV deficiency, nuclear type 15
- OMIM:619063 Mitochondrial complex IV deficiency, nuclear type 19
- 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:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- OMIM:614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- OMIM:603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
- OMIM:617156 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
- OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type)
- OMIM:618567 Mitochondrial DNA depletion syndrome 17
- OMIM:619780 Mitochondrial DNA depletion syndrome 20 (MNGIE type)
- OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- OMIM:203700 Mitochondrial DNA depletion syndrome 4A (Alpers type)
- OMIM:613662 Mitochondrial DNA depletion syndrome 4B (mngie type)
- OMIM:612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
- OMIM:256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- OMIM:612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- OMIM:245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
- ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form
- ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome
- ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration
- OMIM:251950 Mitochondrial myopathy with lactic acidosis
- ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- OMIM:540000 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
- OMIM:251900 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
- OMIM:500009 Mitochondrial myopathy, infantile, transient
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- OMIM:614741 Mitochondrial pyruvate carrier deficiency
- OMIM:616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
- OMIM:609015 Mitochondrial trifunctional protein deficiency
- ORPHA:746 Mitochondrial trifunctional protein deficiency
- ORPHA:809 Mixed connective tissue disease
- ORPHA:552 MODY
- OMIM:157900 Moebius syndrome
- ORPHA:570 Moebius syndrome
- ORPHA:79330 MOGS-CDG
- ORPHA:52368 Mohr-Tranebjaerg syndrome
- OMIM:304700 Mohr-Tranebjaerg syndrome
- OMIM:252150 Molybdenum cofactor deficiency, complementation group A
- OMIM:252160 Molybdenum cofactor deficiency, complementation group B
- OMIM:615501 Molybdenum cofactor deficiency, complementation group C
- OMIM:616095 Monocarboxylate transporter 1 deficiency
- ORPHA:1587 Monosomy 13q14
- ORPHA:96168 Monosomy 13q34
- ORPHA:96123 Monosomy 22
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:281 Monosomy 5p
- ORPHA:77301 Monosomy 9q22.3
- ORPHA:99226 Monosomy X
- OMIM:615703 Morbid obesity and spermatogenic failure
- 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: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
- OMIM:615750 Moyamoya disease 6 with achalasia
- ORPHA:79323 MPDU1-CDG
- ORPHA:79319 MPI-CDG
- ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis
- ORPHA:100024 Mu-heavy chain disease
- ORPHA:575 Muckle-Wells syndrome
- OMIM:618287 Mucocutaneous ulceration, chronic
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- OMIM:252500 Mucolipidosis II alpha/beta
- OMIM:252650 Mucolipidosis IV
- ORPHA:576 Mucolipidosis type II
- ORPHA:577 Mucolipidosis type III
- ORPHA:578 Mucolipidosis type IV
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- 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
- ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- OMIM:617303 Mucopolysaccharidosis-Plus syndrome
- ORPHA:587 Muir-Torre syndrome
- OMIM:158320 Muir-Torre syndrome
- OMIM:617352 Mulchandani-Bhoj-Conlin syndrome
- OMIM:253250 Mulibrey nanism
- ORPHA:2576 Mulibrey nanism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum
- ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- OMIM:231680 Multiple acyl-CoA-dehydrogenase deficiency
- ORPHA:2505 Multiple benign circumferential skin creases on limbs
- ORPHA:148 Multiple carboxylase deficiency
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- OMIM:614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1
- OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- OMIM:131100 Multiple endocrine neoplasia 1
- 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:162300 Multiple endocrine neoplasia, type IIB
- ORPHA:2300 Multiple intestinal atresia
- 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
- OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3
- OMIM:617613 Multiple mitochondrial dysfunctions syndrome 5
- OMIM:617954 Multiple mitochondrial dysfunctions syndrome 6
- ORPHA:29073 Multiple myeloma
- ORPHA:321 Multiple osteochondromas
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- ORPHA:2398 Multiple symmetric lipomatosis
- ORPHA:102 Multiple system atrophy
- 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:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:617066 Muscular dystrophy, congenital, Davignon-Chauveau type
- OMIM:607855 Muscular dystrophy, congenital, merosin deficient or partially deficient
- OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18
- OMIM:603511 Muscular dystrophy, limb-girdle, type 1E
- OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
- OMIM:615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
- OMIM:615350 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
- OMIM:613153 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
- OMIM:615351 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14
- OMIM:606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5
- OMIM:254120 Muscular hypertonia, lethal
- ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis
- OMIM:254200 Myasthenia gravis
- ORPHA:589 Myasthenia gravis
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:616304 Myasthenic syndrome, congenital, 17
- OMIM:616720 Myasthenic syndrome, congenital, 19
- OMIM:601462 Myasthenic syndrome, congenital, 1A, slow-channel
- OMIM:608930 Myasthenic syndrome, congenital, 1B, fast-channel
- OMIM:617143 Myasthenic syndrome, congenital, 20, presynaptic
- OMIM:617239 Myasthenic syndrome, congenital, 21, presynaptic
- OMIM:616224 Myasthenic syndrome, congenital, 22
- OMIM:618197 Myasthenic syndrome, congenital, 23, presynaptic
- OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic
- OMIM:618323 Myasthenic syndrome, congenital, 25, presynaptic
- OMIM:616313 Myasthenic syndrome, congenital, 2A, slow-channel
- OMIM:616314 Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
- OMIM:616321 Myasthenic syndrome, congenital, 3A, slow-channel
- OMIM:616322 Myasthenic syndrome, congenital, 3B, fast-channel
- OMIM:616323 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
- OMIM:605809 Myasthenic syndrome, congenital, 4A, slow-channel
- OMIM:616324 Myasthenic syndrome, congenital, 4B, fast-channel
- OMIM:608931 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
- OMIM:603034 Myasthenic syndrome, congenital, 5
- OMIM:254210 Myasthenic syndrome, congenital, 6, presynaptic
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- ORPHA:2583 Mycetoma
- ORPHA:268249 Mycophenolate mofetil embryopathy
- OMIM:254450 Myelofibrosis with myeloid metaplasia, somatic
- ORPHA:2588 Myhre syndrome
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- OMIM:254780 Myoclonic epilepsy of Lafora
- OMIM:617235 Myoclonus, intractable, neonatal
- OMIM:619178 Myofibrillar myopathy 11
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- OMIM:255200 Myopathy, centronuclear, 2
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:618654 Myopathy, congenital with structured cores and Z-line abnormalities
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:612540 Myopathy, congenital, compton-north
- OMIM:619967 Myopathy, congenital, nonprogressive
- OMIM:618578 Myopathy, congenital, progressive, with scoliosis
- OMIM:618414 Myopathy, congenital, with fast-twitch (type II) fiber atrophy
- OMIM:255310 Myopathy, congenital, with fiber-type disproportion
- OMIM:300580 Myopathy, congenital, with fiber-type disproportion, X-linked
- 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:617114 Myopathy, myofibrillar, 7
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:605637 Myopathy, proximal, and ophthalmoplegia
- OMIM:182920 Myopathy, spheroid body
- OMIM:255700 Myotonia congenita, autosomal recessive
- ORPHA:99735 Myotonia permanens
- OMIM:300219 Myotubular myopathy with abnormal genital development
- OMIM:255900 Myxedema
- ORPHA:99967 Myxoid/round cell liposarcoma
- ORPHA:251643 Myxopapillary ependymoma
Code pathologie
Nom de la pathologie
- OMIM:614063 N-ACETYLASPARTATE DEFICIENCY
- OMIM:237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
- OMIM:618828 Nabais Sa-de Vries syndrome, type 1
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- ORPHA:2614 Nail-patella syndrome
- ORPHA:141083 Nasolacrimal duct cyst
- ORPHA:2770 Nasu-Hakola disease
- ORPHA:168572 Native American myopathy
- OMIM:161700 Necrotizing encephalomyelopathy, subacute, of leigh, adult
- ORPHA:391673 Necrotizing enterocolitis
- OMIM:609284 Nemaline myopathy 1
- OMIM:616165 Nemaline myopathy 10
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- OMIM:161800 Nemaline myopathy 3
- OMIM:609285 Nemaline myopathy 4
- OMIM:615348 Nemaline myopathy 8
- ORPHA:44 Neonatal adrenoleukodystrophy
- ORPHA:464370 Neonatal alloimmune neutropenia
- ORPHA:446 Neonatal hemochromatosis
- 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:654 Nephroblastoma
- ORPHA:223 Nephrogenic diabetes insipidus
- OMIM:613550 Nephronophthisis 11
- OMIM:614377 Nephronophthisis 13
- OMIM:614845 Nephronophthisis 15
- OMIM:615382 Nephronophthisis 16
- OMIM:615862 Nephronophthisis 18
- OMIM:616217 Nephronophthisis 19
- OMIM:604387 Nephronophthisis 3
- OMIM:613159 Nephronophthisis-Like nephropathy 1
- OMIM:602114 Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease
- OMIM:256150 NEPHROSIALIDOSIS
- OMIM:256300 Nephrotic syndrome, type 1
- ORPHA:634 Netherton syndrome
- OMIM:256500 Netherton syndrome
- OMIM:616038 Neu-Laxova syndrome 2
- OMIM:256550 Neuraminidase deficiency
- OMIM:256700 Neuroblastoma, susceptibility to
- OMIM:613013 Neuroblastoma, susceptibility to, 2
- ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- OMIM:619259 Neurodegeneration with ataxia and late-onset optic atrophy
- OMIM:234200 Neurodegeneration with brain iron accumulation 1
- OMIM:610217 Neurodegeneration with brain iron accumulation 2B
- OMIM:606159 Neurodegeneration with brain iron accumulation 3
- OMIM:617916 Neurodegeneration with brain iron accumulation 7
- OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
- OMIM:618868 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
- OMIM:617672 Neurodegeneration, childhood-onset, with brain atrophy
- OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive
- OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities
- OMIM:618890 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
- OMIM:618707 Neurodevelopmental disorder with absent language and variable seizures
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
- OMIM:618590 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
- OMIM:618356 Neurodevelopmental disorder with central and peripheral motor dysfunction
- OMIM:619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies
- OMIM:618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
- OMIM:620083 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- 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:619922 Neurodevelopmental disorder with dystonia and seizures
- OMIM:619971 Neurodevelopmental disorder with epilepsy and brain atrophy
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- OMIM:618741 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- OMIM:620094 Neurodevelopmental disorder with eye movement abnormalities and ataxia
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
- OMIM:619383 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
- OMIM:619854 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
- OMIM:620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
- OMIM:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
- OMIM:618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- OMIM:617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- OMIM:617268 Neurodevelopmental disorder with hypotonia, seizures, and absent language
- OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
- OMIM:617493 Neurodevelopmental disorder with involuntary movements
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
- OMIM:618367 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
- OMIM:619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
- OMIM:620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- OMIM:619685 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
- OMIM:617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
- OMIM:619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
- OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- OMIM:619239 Neurodevelopmental disorder with or without autism or seizures
- OMIM:618859 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
- OMIM:614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
- OMIM:617864 Neurodevelopmental disorder with or without seizures and gait abnormalities
- OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities
- OMIM:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:618088 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
- OMIM:619517 Neurodevelopmental disorder with seizures and brain abnormalities
- OMIM:618480 Neurodevelopmental disorder with seizures and speech and walking impairment
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
- OMIM:617804 Neurodevelopmental disorder with severe motor impairment and absent language
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:615075 Neurodevelopmental disorder with spastic diplegia and visual defects
- OMIM:618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
- OMIM:618076 Neurodevelopmental disorder with spasticity and poor growth
- OMIM:619286 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
- OMIM:620001 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
- OMIM:619056 Neurodevelopmental disorder with speech impairment and dysmorphic facies
- OMIM:620114 Neurodevelopmental disorder with speech impairment and with or without seizures
- OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
- OMIM:618547 Neurodevelopmental disorder with visual defects and brain anomalies
- OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
- 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
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:157846 Neuroferritinopathy
- ORPHA:252183 Neurofibroma
- OMIM:162240 Neurofibromatosis-Pheochromocytoma-Duodenal carcinoid syndrome
- ORPHA:1143 Neurogenic arthrogryposis multiplex congenita
- ORPHA:94093 Neuroleptic malignant syndrome
- OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency
- ORPHA:71211 Neuromyelitis optica spectrum disorder
- ORPHA:99811 Neuronal intestinal pseudoobstruction
- OMIM:619539 Neuroocular syndrome
- OMIM:618186 Neuropathy, congenital hypomyelinating, 3
- OMIM:608088 Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux
- OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:615548 Neuropathy, hereditary sensory and autonomic, type VII
- OMIM:616488 Neuropathy, hereditary sensory and autonomic, type VIII
- 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:618752 Neutropenia, severe congenital, 8, autosomal dominant
- OMIM:619813 Neutropenia, severe congenital, 9, autosomal dominant
- OMIM:162830 Neutrophilia, hereditary
- OMIM:601358 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
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- ORPHA:99825 Nipah virus disease
- OMIM:618872 Nizon-Isidor syndrome
- 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:94080 Non-functioning paraganglioma
- ORPHA:91349 Non-functioning pituitary adenoma
- ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome
- ORPHA:141179 Non-involuting congenital hemangioma
- ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:442835 Non-specific early-onset epileptic encephalopathy
- ORPHA:557 Non-syndromic anorectal malformation
- ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis
- ORPHA:3366 Non-syndromic metopic craniosynostosis
- ORPHA:95706 Non-syndromic posterior hypospadias
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:618499 Noonan syndrome 11
- OMIM:618624 Noonan syndrome 12
- OMIM:619087 Noonan syndrome 13
- OMIM:613224 Noonan syndrome 6
- OMIM:613706 Noonan syndrome 7
- OMIM:615355 Noonan syndrome 8
- ORPHA:500 Noonan syndrome with multiple lentigines
- OMIM:617506 Noonan syndrome-like disorder with loose anagen hair 2
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- OMIM:604901 North american indian childhood cirrhosis
- ORPHA:3032 NPHP3-related Meckel-like syndrome
- ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis
- ORPHA:443167 NUT midline carcinoma
Code pathologie
Nom de la pathologie
- OMIM:618512 O'donnell-Luria-Rodan syndrome
- ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency
- ORPHA:71528 Obesity due to prohormone convertase I deficiency
- ORPHA:369873 Obesity due to SIM1 deficiency
- OMIM:609734 Obesity, early-onset, with adrenal insufficiency and red hair
- 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:2549 Oculoauriculovertebral spectrum with radial defects
- ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- ORPHA:2710 Oculodentodigital dysplasia
- OMIM:600268 Oculoectodermal syndrome
- ORPHA:2712 Oculofaciocardiodental syndrome
- ORPHA:1876 Oculogastrointestinal muscular dystrophy
- OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome
- OMIM:618637 Oculopharyngeal myopathy with leukoencephalopathy 1
- OMIM:164310 Oculopharyngodistal myopathy 1
- OMIM:619473 Oculopharyngodistal myopathy 3
- OMIM:619790 Oculopharyngodistal myopathy 4
- OMIM:618440 Oculoskeletodental syndrome
- ORPHA:2717 Oculotrichoanal syndrome
- OMIM:164330 Odontoma-Dysphagia syndrome
- ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome
- OMIM:258040 OEIS complex
- ORPHA:276432 Ogden syndrome
- OMIM:300855 Ogden syndrome
- OMIM:249620 Ohdo syndrome
- OMIM:603736 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- OMIM:300895 Ohdo syndrome, X-linked
- ORPHA:2729 Okamoto syndrome
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- OMIM:608615 Oligodontia-colorectal cancer syndrome
- OMIM:603554 Omenn syndrome
- ORPHA:39041 Omenn syndrome
- OMIM:258315 Omodysplasia 1
- OMIM:310980 OMPHALOCELE
- ORPHA:660 Omphalocele
- ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type
- OMIM:164750 Omphalocele, autosomal
- OMIM:258320 Omphalocele-Cleft palate syndrome, lethal
- ORPHA:2745 Opitz GBBB syndrome
- OMIM:300000 Opitz GBBB syndrome
- OMIM:305450 Opitz-Kaveggia syndrome
- ORPHA:2746 Opsismodysplasia
- OMIM:258480 Opsismodysplasia
- ORPHA:2086 Optic pathway glioma
- 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:2753 Orofaciodigital syndrome type 4
- ORPHA:2919 Orofaciodigital syndrome type 5
- ORPHA:2754 Orofaciodigital syndrome type 6
- OMIM:174300 Orofaciodigital syndrome V
- OMIM:612913 Orofaciodigital syndrome XI
- OMIM:615948 Orofaciodigital syndrome XIV
- OMIM:617563 Orofaciodigital syndrome XVI
- ORPHA:93958 Oromandibular dystonia
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- ORPHA:666 Osteogenesis imperfecta
- OMIM:610915 Osteogenesis imperfecta, type VIII
- OMIM:613848 Osteogenesis imperfecta, type X
- OMIM:614856 Osteogenesis imperfecta, type XIII
- OMIM:617952 Osteogenesis imperfecta, type XVIII
- OMIM:166250 Osteoglophonic dysplasia
- ORPHA:2645 Osteoglosphonic dysplasia
- OMIM:619377 Osteootohepatoenteric syndrome
- OMIM:300373 Osteopathia striata with cranial sclerosis
- 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
- OMIM:601976 Otofacioosseous-Gonadal syndrome
- ORPHA:90652 Otopalatodigital syndrome type 2
- OMIM:311300 Otopalatodigital syndrome, type I
- OMIM:304120 Otopalatodigital syndrome, type II
- ORPHA:314473 Ovarian fibroma
- ORPHA:314478 Ovarian fibrothecoma
- OMIM:608115 Ovarian hyperstimulation syndrome
- ORPHA:64739 Ovarian hyperstimulation syndrome
- ORPHA:3203 Overhydrated hereditary stomatocytosis
- OMIM:185000 Overhydrated hereditary stomatocytosis
- ORPHA:206572 Overlap myositis
Code pathologie
Nom de la pathologie
- ORPHA:2796 Pachydermoperiostosis
- ORPHA:2309 Pachyonychia congenita
- OMIM:301025 Paganini-Miozzo syndrome
- ORPHA:991 PAGOD syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:601803 Pallister-Killian syndrome
- ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome
- OMIM:167750 Pancreas, annular
- OMIM:615935 Pancreatic agenesis 2
- OMIM:600001 Pancreatic agenesis and congenital heart defects
- OMIM:260370 Pancreatic agenesis, congenital
- ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome
- OMIM:609069 Pancreatic and cerebellar agenesis
- OMIM:600089 Pancreatic beta cell agenesis with neonatal diabetes mellitus
- OMIM:260350 Pancreatic cancer
- OMIM:606856 Pancreatic cancer, susceptibility to, 1
- OMIM:613347 Pancreatic cancer, susceptibility to, 2
- OMIM:618680 Pancreatic cancer, susceptibility to, 5
- ORPHA:309108 Pancreatic colipase deficiency
- ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- OMIM:260450 Pancreatic insufficiency, combined exocrine
- OMIM:614338 Pancreatic lipase deficiency
- ORPHA:309031 Pancreatic triacylglycerol lipase deficiency
- OMIM:167800 Pancreatitis, hereditary
- ORPHA:677 Pancreatoblastoma
- ORPHA:66624 PANDAS
- ORPHA:95513 Panhypophysitis
- ORPHA:251915 Papillary tumor of the pineal region
- OMIM:260500 Papilloma of choroid plexus
- ORPHA:678 Papillon-Lefèvre syndrome
- OMIM:115310 Paragangliomas 4
- ORPHA:684 Paramyotonia congenita of Von Eulenburg
- OMIM:168300 Paramyotonia congenita of von eulenburg
- OMIM:260530 Parana hard-skin syndrome
- ORPHA:143 Parathyroid carcinoma
- ORPHA:567983 Parenteral nutrition-associated cholestasis
- OMIM:168601 Parkinson disease 1, autosomal dominant
- OMIM:615530 Parkinson disease 20, early-onset
- OMIM:616710 Parkinson disease 22, autosomal dominant
- OMIM:168600 Parkinson disease, late-onset
- ORPHA:171695 Parkinsonian-pyramidal syndrome
- OMIM:619738 Parkinsonism-dystonia 3, childhood-onset
- OMIM:613135 Parkinsonism-Dystonia, infantile, 1
- ORPHA:90035 Paroxysmal cold hemoglobinuria
- ORPHA:46348 Paroxysmal extreme pain disorder
- ORPHA:157835 Paroxysmal hemicrania
- ORPHA:447 Paroxysmal nocturnal hemoglobinuria
- OMIM:615399 Paroxysmal nocturnal hemoglobinuria 2
- OMIM:118800 Paroxysmal nonkinesigenic dyskinesia 1
- ORPHA:261911 Partial deletion of the short arm of chromosome 7
- OMIM:601466 Patent ductus venosus
- ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome
- ORPHA:96191 Paternal uniparental disomy of chromosome 6
- ORPHA:93126 Pauci-immune glomerulonephritis
- OMIM:557000 Pearson marrow-pancreas syndrome
- ORPHA:699 Pearson syndrome
- ORPHA:33402 Pediatric hepatocellular carcinoma
- ORPHA:93552 Pediatric systemic lupus erythematosus
- ORPHA:525731 Pediatric-onset Graves disease
- OMIM:260565 Peho syndrome
- ORPHA:2836 PEHO syndrome
- OMIM:617507 Peho-Like syndrome
- OMIM:169400 Pelger-Huet anomaly
- ORPHA:702 Pelizaeus-Merzbacher disease
- OMIM:312080 Pelizaeus-Merzbacher disease
- ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form
- OMIM:176780 Pelvic organ prolapse
- ORPHA:704 Pemphigus vulgaris
- ORPHA:49 Penile agenesis
- ORPHA:1335 Pentalogy of Cantrell
- ORPHA:2847 Pericardial and diaphragmatic defect
- ORPHA:65250 Perineural cyst
- 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
- ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- ORPHA:168816 Peritoneal cystic mesothelioma
- ORPHA:98892 Periventricular nodular heterotopia
- OMIM:267000 Perlman syndrome
- ORPHA:2849 Perlman syndrome
- ORPHA:226292 Permanent congenital hypothyroidism
- ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:264470 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:614882 Peroxisome biogenesis disorder 10A (Zellweger)
- OMIM:614883 Peroxisome biogenesis disorder 11A (Zellweger)
- OMIM:614885 Peroxisome biogenesis disorder 11B
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger)
- OMIM:614887 Peroxisome biogenesis disorder 13A (Zellweger)
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:601539 Peroxisome biogenesis disorder 1B
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:614859 Peroxisome biogenesis disorder 3A (Zellweger)
- OMIM:266510 Peroxisome biogenesis disorder 3B
- OMIM:614862 Peroxisome biogenesis disorder 4A (Zellweger)
- OMIM:614863 Peroxisome biogenesis disorder 4B
- OMIM:614866 Peroxisome biogenesis disorder 5A (Zellweger)
- OMIM:614867 Peroxisome biogenesis disorder 5B
- OMIM:614870 Peroxisome biogenesis disorder 6A (Zellweger)
- OMIM:614871 Peroxisome biogenesis disorder 6B
- OMIM:614872 Peroxisome biogenesis disorder 7A (zellweger)
- OMIM:614873 Peroxisome biogenesis disorder 7B
- OMIM:614876 Peroxisome biogenesis disorder 8A (Zellweger)
- OMIM:614877 Peroxisome biogenesis disorder 8B
- OMIM:261550 Persistent mullerian duct syndrome, types I and II
- ORPHA:2856 Persistent Müllerian duct syndrome
- 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:93259 Pfeiffer syndrome type 2
- ORPHA:93260 Pfeiffer syndrome type 3
- ORPHA:443811 PGM3-CDG
- OMIM:606232 Phelan-Mcdermid syndrome
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- ORPHA:2879 Phocomelia, Schinzel type
- OMIM:261650 Phosphoenolpyruvate carboxykinase 2, mitochondrial
- OMIM:261680 Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- OMIM:619859 Phosphoribosylaminoimidazole carboxylase deficiency
- OMIM:610992 Phosphoserine aminotransferase deficiency
- ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form
- OMIM:172800 Piebald trait
- ORPHA:2885 Piebald trait-neurologic defects syndrome
- ORPHA:2884 Piebaldism
- OMIM:602342 Pierpont syndrome
- OMIM:261800 Pierre Robin syndrome
- OMIM:609049 Pierson syndrome
- OMIM:301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked
- OMIM:610475 Pigmented nodular adrenocortical disease, primary, 2
- ORPHA:251912 Pineocytoma
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:610954 Pitt-Hopkins syndrome
- OMIM:614325 Pitt-Hopkins-Like syndrome 2
- ORPHA:95613 Pituitary apoplexy
- ORPHA:91351 Pituitary dermoid and epidermoid cysts
- OMIM:613038 Pituitary hormone deficiency, combined, 1
- OMIM:613986 Pituitary hormone deficiency, combined, 6
- ORPHA:521426 PLAA-associated neurodevelopmental disorder
- ORPHA:707 Plague
- OMIM:262800 Plasma clot retraction factor, deficiency of
- OMIM:217090 Plasminogen deficiency, type I
- ORPHA:85166 Platyspondylic dysplasia, Torrance type
- OMIM:151210 Platyspondylic lethal skeletal dysplasia, Torrance type
- ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
- ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17
- ORPHA:50251 Pleural mesothelioma
- ORPHA:280356 PLIN1-related familial partial lipodystrophy
- ORPHA:54028 Plummer-Vinson syndrome
- ORPHA:79318 PMM2-CDG
- ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome
- ORPHA:2905 POEMS syndrome
- OMIM:604173 Poikiloderma with neutropenia
- OMIM:615704 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
- ORPHA:2911 Poland syndrome
- ORPHA: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:173900 Polycystic kidneys
- OMIM:174050 Polycystic liver disease 1 with or without kidney cysts
- OMIM:617004 Polycystic liver disease 2
- OMIM:617874 Polycystic liver disease 3 with or without kidney cysts
- OMIM:617875 Polycystic liver disease 4 with or without kidney cysts
- ORPHA:729 Polycythemia vera
- OMIM:263300 Polycythemia vera
- ORPHA:2917 Polydactyly-myopia syndrome
- ORPHA:180229 Polyembryoma
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy
- ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- ORPHA:447877 Polymerase proofreading-related adenomatous polyposis
- OMIM:300388 Polymicrogyria, bilateral perisylvian
- ORPHA:732 Polymyositis
- OMIM:175505 Polyposis of gastric fundus without polyposis coli
- OMIM:601228 Polyposis syndrome, hereditary mixed, 1
- OMIM:610069 Polyposis syndrome, hereditary mixed, 2
- OMIM:175020 Polyposis, gastric
- OMIM:175400 Polyposis, intestinal, scattered and discrete
- OMIM:175450 Polyposis, intestinal, with multiple exostoses
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- OMIM:263630 Polysyndactyly with cardiac malformation
- ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24
- ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11
- OMIM:614688 Pontine tegmental cap dysplasia
- ORPHA:2254 Pontocerebellar hypoplasia type 1
- OMIM:607596 Pontocerebellar hypoplasia type 1A
- ORPHA:2524 Pontocerebellar hypoplasia type 2
- OMIM:618810 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
- OMIM:617695 Pontocerebellar hypoplasia, type 11
- OMIM:618606 Pontocerebellar hypoplasia, type 13
- OMIM:619527 Pontocerebellar hypoplasia, type 16
- OMIM:619909 Pontocerebellar hypoplasia, type 17
- OMIM:614678 Pontocerebellar hypoplasia, type 1B
- OMIM:616081 Pontocerebellar hypoplasia, type 1C
- OMIM:618065 Pontocerebellar hypoplasia, type 1D
- OMIM:277470 Pontocerebellar hypoplasia, type 2A
- OMIM:612389 Pontocerebellar hypoplasia, type 2B
- OMIM:225753 Pontocerebellar hypoplasia, type 4
- OMIM:611523 Pontocerebellar hypoplasia, type 6
- OMIM:614969 Pontocerebellar hypoplasia, type 7
- OMIM:614961 Pontocerebellar hypoplasia, type 8
- OMIM:615809 Pontocerebellar hypoplasia, type 9
- OMIM:263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1
- OMIM:618428 Popov-Chang syndrome
- ORPHA:738 Porphyria
- ORPHA:101330 Porphyria cutanea tarda
- OMIM:176100 Porphyria cutanea tarda
- OMIM:176090 Porphyria cutanea tarda, type I
- ORPHA:100924 Porphyria due to ALA dehydratase deficiency
- ORPHA:79473 Porphyria variegata
- OMIM:176200 Porphyria variegata
- OMIM:612740 Porphyria, acute hepatic
- OMIM:176000 Porphyria, acute intermittent
- OMIM:263700 Porphyria, congenital erythropoietic
- OMIM:617068 Portal hypertension, noncirrhotic
- OMIM:619463 Portal hypertension, noncirrhotic, 2
- OMIM:601004 Portal vein, cavernous transformation of
- OMIM:263750 Postaxial acrofacial dysostosis
- ORPHA:97349 Postencephalitic parkinsonism
- ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome
- ORPHA:268810 Posterior meningocele
- ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
- ORPHA:2942 Postpoliomyelitis syndrome
- OMIM:610883 Potocki-Lupski syndrome
- ORPHA:79083 PPARG-related familial partial lipodystrophy
- ORPHA:97278 PPoma
- OMIM:176270 Prader-Willi syndrome
- ORPHA:739 Prader-Willi syndrome
- ORPHA:177910 Prader-Willi syndrome due to imprinting mutation
- ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion
- ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- ORPHA:177907 Prader-Willi syndrome due to translocation
- ORPHA:398073 Prader-Willi-like syndrome
- ORPHA:275555 Preeclampsia
- ORPHA:98914 Presynaptic congenital myasthenic syndromes
- OMIM:309610 Prieto syndrome
- ORPHA:140989 Primary angiitis of the central nervous system
- ORPHA:186 Primary biliary cholangitis
- ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:99657 Primary dystonia, DYT2 type
- ORPHA:98805 Primary dystonia, DYT4 type
- ORPHA:48686 Primary effusion lymphoma
- ORPHA:90042 Primary familial polycythemia
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:35689 Primary lateral sclerosis
- OMIM:611637 Primary lateral sclerosis, adult
- OMIM:606353 Primary lateral sclerosis, juvenile
- ORPHA:90970 Primary lipodystrophy
- ORPHA:824 Primary myelofibrosis
- ORPHA:168829 Primary peritoneal carcinoma
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- ORPHA:75567 Primary progressive freezing gait
- 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:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:2963 Progeroid syndrome, Petty type
- ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency
- ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type
- OMIM:157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- OMIM:609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- OMIM:610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
- OMIM:613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- OMIM:616479 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
- OMIM:617069 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
- OMIM:617070 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
- OMIM:618098 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- ORPHA:172 Progressive familial intrahepatic cholestasis
- ORPHA:352596 Progressive myoclonic epilepsy with dystonia
- ORPHA:2062 Progressive non-infectious anterior vertebral fusion
- ORPHA:683 Progressive supranuclear palsy
- ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome
- ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome
- ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
- ORPHA:2965 Prolactinoma
- OMIM:170100 Prolidase deficiency
- ORPHA:742 Prolidase deficiency
- OMIM:606054 Propionic acidemia
- ORPHA:35 Propionic acidemia
- OMIM:600955 Proprotein convertase 1/3 deficiency
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- 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
- OMIM:300752 Protoporphyria, erythropoietic, X-linked
- ORPHA:261197 Proximal 16p11.2 microdeletion syndrome
- ORPHA:47159 Proximal renal tubular acidosis
- ORPHA:1762 Proximal Xq28 duplication syndrome
- 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: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
- 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:264475 Pseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies
- OMIM:264480 Pseudotrisomy 13 syndrome
- OMIM:614204 Psoriasis 14, pustular
- OMIM:614501 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
- ORPHA:306498 PTEN hamartoma tumor syndrome
- ORPHA:60039 Pudendal neuralgia
- ORPHA:60025 Pulmonary alveolar microlithiasis
- OMIM:618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia
- ORPHA:2038 Pulmonary arteriovenous malformation
- OMIM:614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
- OMIM:614743 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2
- OMIM:178500 Pulmonary fibrosis, idiopathic
- ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
- ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection
- ORPHA:79501 Punctate palmoplantar keratoderma type 1
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- ORPHA:441 Pure autonomic failure
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- ORPHA:763 Pycnodysostosis
- ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy
- ORPHA:3003 Pyknoachondrogenesis
- OMIM:265950 Pyloric atresia
- OMIM:179010 Pyloric stenosis, infantile hypertrophic 1
- ORPHA:48104 Pyoderma gangrenosum
- ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- OMIM:604416 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
- ORPHA:79096 Pyridoxal phosphate-responsive seizures
- OMIM:610090 Pyridoxamine 5-prime-phosphate oxidase deficiency
- ORPHA:3006 Pyridoxine-dependent epilepsy
- ORPHA:3008 Pyruvate carboxylase deficiency
- OMIM:266150 Pyruvate carboxylase deficiency
- ORPHA:765 Pyruvate dehydrogenase deficiency
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- OMIM:245348 Pyruvate dehydrogenase E2 deficiency
- ORPHA:2394 Pyruvate dehydrogenase E3 deficiency
- OMIM:608782 Pyruvate dehydrogenase phosphatase deficiency
- OMIM:266200 Pyruvate kinase deficiency of red cells
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:770 Rabies
- OMIM:312190 Radial aplasia, X-linked
- ORPHA:70475 Radiation proctitis
- OMIM:266250 Radiculoneuropathy, fatal neonatal
- OMIM:619312 Radio-Tartaglia syndrome
- OMIM:616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- OMIM:617537 Rahman syndrome
- OMIM:613658 Rajab interstitial lung disease with brain calcifications
- OMIM:619013 Rajab interstitial lung disease with brain calcifications 2
- ORPHA:1051 Ramos-Arroyo syndrome
- OMIM:266280 Rapadilino syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- ORPHA:71517 Rapid-onset dystonia-parkinsonism
- ORPHA:141184 Rapidly involuting congenital hemangioma
- ORPHA:535 Rare cutaneous lupus erythematosus
- ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy
- OMIM:614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic
- ORPHA:31205 Rat-bite fever
- OMIM:619695 Rauch-Steindl syndrome
- ORPHA:99852 Ravine syndrome
- ORPHA:29207 Reactive arthritis
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- ORPHA:94125 Recessive mitochondrial ataxia syndrome
- ORPHA:96167 Recombinant 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:398063 Refractory celiac disease
- ORPHA:773 Refsum disease
- ORPHA:91547 Relapsing fever
- ORPHA:728 Relapsing polychondritis
- ORPHA:411709 Renal agenesis
- ORPHA:1848 Renal agenesis, bilateral
- OMIM:137920 Renal cysts and diabetes syndrome
- ORPHA:93108 Renal dysplasia
- ORPHA:97362 Renal hypoplasia, bilateral
- ORPHA:71273 Renal nutcracker syndrome
- OMIM:611590 Renal tubular acidosis, distal, with hemolytic anemia
- OMIM:560000 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia
- OMIM:208540 Renal-hepatic-pancreatic dysplasia 1
- OMIM:615415 Renal-Hepatic-Pancreatic dysplasia 2
- OMIM:309500 Renpenning syndrome
- ORPHA:3242 Renpenning syndrome
- ORPHA:494344 RERE-related neurodevelopmental syndrome
- ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome
- ORPHA:1662 Restrictive dermopathy
- OMIM:619793 Restrictive dermopathy 2
- ORPHA:33355 Reticular dysgenesis
- OMIM:312500 Reticuloendotheliosis, X-linked
- OMIM:619446 Retinal dystrophy and microvillus inclusion disease
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- OMIM:613861 Retinitis pigmentosa 59
- OMIM:618955 Retinitis pigmentosa 89
- OMIM:250410 Retinitis pigmentosa with or without skeletal anomalies
- OMIM:268040 Retinohepatoendocrinologic syndrome
- ORPHA:778 Rett syndrome
- OMIM:312750 Rett syndrome
- OMIM:613454 Rett syndrome, congenital variant
- 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
- ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- OMIM:180360 RHINY
- OMIM:618019 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
- ORPHA:59315 Rhombencephalosynapsis
- ORPHA:140976 RHYNS syndrome
- OMIM:615026 Riboflavin deficiency
- ORPHA:97229 Riboflavin transporter deficiency
- ORPHA:3101 Richieri Costa-da Silva syndrome
- OMIM:277440 Rickets, vitamin D-resistant, type IIA
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- OMIM:208530 Right atrial isomerism (Ivemark)
- OMIM:614498 Rigidity and multifocal seizure syndrome, lethal neonatal
- ORPHA:217335 RIN2 syndrome
- ORPHA:1437 Ring chromosome 1 syndrome
- ORPHA:1438 Ring chromosome 10 syndrome
- ORPHA:96176 Ring chromosome 13 syndrome
- OMIM:220210 Ritscher-Schinzel syndrome 1
- OMIM:619435 Ritscher-Schinzel syndrome 4
- ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy
- OMIM:268300 Roberts syndrome
- ORPHA:97360 Robinow syndrome
- OMIM:180700 Robinow syndrome, autosomal dominant 1
- OMIM:616331 Robinow syndrome, autosomal dominant 2
- OMIM:616894 Robinow syndrome, autosomal dominant 3
- OMIM:268310 Robinow syndrome, autosomal recessive
- OMIM:618529 Robinow syndrome, autosomal recessive 2
- OMIM:616651 Roifman syndrome
- ORPHA:353298 Roifman syndrome
- OMIM:613328 Roifman-Chitayat syndrome
- ORPHA:2909 Rothmund-Thomson syndrome
- OMIM:268400 Rothmund-Thomson syndrome
- ORPHA:221008 Rothmund-Thomson syndrome type 1
- ORPHA:221016 Rothmund-Thomson syndrome type 2
- ORPHA:3111 Rotor syndrome
- ORPHA:783 Rubinstein-Taybi syndrome
- OMIM:180849 Rubinstein-Taybi syndrome 1
- OMIM:613684 Rubinstein-Taybi syndrome 2
- ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations
- ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- OMIM:268650 Rudiger syndrome
- OMIM:616200 Ruijs-Aalfs syndrome
- ORPHA:3121 Ruvalcaba syndrome
- OMIM:180870 Ruvalcaba syndrome
Code pathologie
Nom de la pathologie
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- OMIM:600145 Sacral defect with anterior meningocele
- OMIM:609056 Salt and pepper developmental regression syndrome
- OMIM:268800 Sandhoff disease
- ORPHA:796 Sandhoff disease
- ORPHA:309169 Sandhoff disease, adult form
- ORPHA:309155 Sandhoff disease, infantile form
- ORPHA:309162 Sandhoff disease, juvenile form
- ORPHA:71272 Sandifer syndrome
- ORPHA:2323 Sanjad-Sakati syndrome
- ORPHA:793 SAPHO syndrome
- ORPHA:797 Sarcoidosis
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- OMIM:612387 Sarcoidosis, susceptibility to, 2
- ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement
- ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant
- OMIM:600705 Satoyoshi syndrome
- ORPHA:3134 SCARF syndrome
- OMIM:312830 Scarf syndrome
- ORPHA:449280 Scedosporiosis
- OMIM:615547 Schaaf-Yang syndrome
- ORPHA:93474 Scheie syndrome
- ORPHA:59298 Schilder disease
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:63862 Schisis association
- OMIM:269250 Schneckenbecken dysplasia
- ORPHA:37748 Schnitzler syndrome
- OMIM:615009 Schuurs-Hoeijmakers syndrome
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:255800 Schwartz-jampel syndrome, type 1
- OMIM:600802 Scid, autosomal recessive, T-Negative/b-Positive type
- 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
- ORPHA:90363 Secondary intestinal lymphangiectasia
- ORPHA:95427 Secondary short bowel syndrome
- ORPHA:99857 Secondary syringomyelia
- OMIM:269650 Secretory component deficiency
- OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome
- ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome
- ORPHA:331235 Selective IgM deficiency
- ORPHA:79411 Self-improving dystrophic epidermolysis bullosa
- ORPHA:220386 Semilobar holoprosencephaly
- ORPHA:84081 Senior-Boichis syndrome
- ORPHA:3156 Senior-Loken syndrome
- OMIM:616307 Senior-Loken syndrome 8
- OMIM:616629 Senior-Loken syndrome 9
- 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:157798 Serrated polyposis syndrome
- OMIM:617108 Sessile serrated polyposis cancer syndrome
- ORPHA:314911 Severe Canavan disease
- ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency
- ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency
- ORPHA:275 Severe combined immunodeficiency due to DCLRE1C 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:171430 Severe congenital nemaline myopathy
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy
- ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy
- 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
- ORPHA:1505 Short rib-polydactyly syndrome
- OMIM:615503 Short rib-polydactyly syndrome, type VI
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- OMIM:618702 Short stature and microcephaly with genital anomalies
- ORPHA:314811 Short stature due to GHSR deficiency
- OMIM:618363 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
- OMIM:602471 Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities
- OMIM:619184 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:619234 Short stature, oligodontia, dysmorphic facies, and motor delay
- OMIM:617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
- ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome
- ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome
- ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome
- OMIM:269880 Short syndrome
- ORPHA:3163 SHORT syndrome
- ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency
- OMIM:208500 Short-Rib thoracic dysplasia 1 with or without polydactyly
- OMIM:615630 Short-Rib thoracic dysplasia 10 with or without polydactyly
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:616300 Short-Rib thoracic dysplasia 13 with or without polydactyly
- OMIM:617088 Short-rib thoracic dysplasia 15 with polydactyly
- OMIM:617102 Short-Rib thoracic dysplasia 16 with or without polydactyly
- OMIM:617866 Short-Rib thoracic dysplasia 18 with polydactyly
- OMIM:617895 Short-Rib thoracic dysplasia 19 with or without polydactyly
- OMIM:617925 Short-Rib thoracic dysplasia 20 with polydactyly
- OMIM:619479 Short-rib thoracic dysplasia 21 without polydactyly
- OMIM:613819 Short-Rib thoracic dysplasia 4 with or without polydactyly
- OMIM:614376 Short-Rib thoracic dysplasia 5 with or without polydactyly
- OMIM:263520 Short-Rib thoracic dysplasia 6 with or without polydactyly
- OMIM:614091 Short-Rib thoracic dysplasia 7 with or without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- 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
- OMIM:617941 Shwachman-Diamond syndrome 2
- ORPHA:812 Sialidosis type 1
- ORPHA:87876 Sialidosis type 2
- OMIM:269921 Sialuria
- ORPHA:3166 Sialuria
- 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
- OMIM:618907 Silver-Russell syndrome 4
- OMIM:618908 Silver-Russell syndrome 5
- ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication
- ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication
- ORPHA:397590 Silver-Russell syndrome due to a point mutation
- ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15
- ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- ORPHA:398079 SIM1-related Prader-Willi-like syndrome
- OMIM:182150 Simosa craniofacial syndrome
- ORPHA:91139 Simple cryoglobulinemia
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- ORPHA:3169 Sirenomelia
- OMIM:210250 Sitosterolemia 1
- OMIM:602613 Skeletal dysplasia and progressive central nervous system degeneration, lethal
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- OMIM:617616 Skraban-Deardorff syndrome
- ORPHA:356961 SLC35A2-CDG
- ORPHA:468699 SLC39A8-CDG
- ORPHA:284400 Small cell carcinoma of the bladder
- OMIM:616638 Smith-Kingsmore syndrome
- ORPHA:818 Smith-Lemli-Opitz syndrome
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:182290 Smith-Magenis syndrome
- ORPHA:449285 Snakebite envenomation
- ORPHA:97230 Solar urticaria
- ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma
- ORPHA:209964 Solitary rectal ulcer syndrome
- OMIM:109270 Solute carrier family 4 (anion exchanger), member 1
- ORPHA:97283 Somatostatinoma
- ORPHA:821 Sotos syndrome
- OMIM:117550 Sotos syndrome
- OMIM:108600 Spastic ataxia 1, autosomal dominant
- OMIM:614487 Spastic ataxia 5, autosomal recessive
- OMIM:607225 Spastic paralysis, infantile-onset ascending
- OMIM:604360 Spastic paraplegia 11, autosomal recessive
- OMIM:270700 Spastic paraplegia 15, autosomal recessive
- OMIM:609727 Spastic paraplegia 29, autosomal dominant
- OMIM:610250 Spastic paraplegia 31, autosomal dominant
- OMIM:613206 Spastic paraplegia 44, autosomal recessive
- OMIM:615031 Spastic paraplegia 49, autosomal recessive
- OMIM:615033 Spastic paraplegia 54, autosomal recessive
- OMIM:607259 Spastic paraplegia 7, autosomal recessive
- OMIM:619027 Spastic paraplegia 83, autosomal recessive
- OMIM:619621 Spastic paraplegia 84, autosomal recessive
- OMIM:619686 Spastic paraplegia 85, autosomal recessive
- OMIM:601162 Spastic paraplegia 9A, autosomal dominant
- OMIM:616586 Spastic paraplegia 9B, autosomal recessive
- ORPHA:99015 Spastic paraplegia type 2
- ORPHA:99013 Spastic paraplegia type 7
- ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- ORPHA:1519 SPECC1L-related hypertelorism syndrome
- OMIM:617475 Specific granule deficiency 2
- OMIM:182900 Spherocytosis, type 1
- OMIM:616649 Spherocytosis, type 2
- OMIM:612653 Spherocytosis, type 4
- OMIM:612690 Spherocytosis, type 5
- OMIM:616866 Spinal muscular atrophy with congenital bone fractures 1
- OMIM:616867 Spinal muscular atrophy with congenital bone fractures 2
- OMIM:159950 Spinal muscular atrophy with progressive myoclonic epilepsy
- OMIM:604320 Spinal muscular atrophy, distal, autosomal recessive, 1
- OMIM:618291 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
- OMIM:301830 Spinal muscular atrophy, X-linked 2
- ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- OMIM:605361 Spinocerebellar ataxia 14
- OMIM:607346 Spinocerebellar ataxia 19
- OMIM:608703 Spinocerebellar ataxia 25
- OMIM:613908 Spinocerebellar ataxia 35
- OMIM:616795 Spinocerebellar ataxia 42
- OMIM:617691 Spinocerebellar ataxia 44
- OMIM:618093 Spinocerebellar ataxia 48
- ORPHA:98767 Spinocerebellar ataxia type 11
- ORPHA:98768 Spinocerebellar ataxia type 13
- ORPHA:101111 Spinocerebellar ataxia type 25
- ORPHA:276193 Spinocerebellar ataxia type 35
- ORPHA:458803 Spinocerebellar ataxia type 42
- ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2
- OMIM:606002 Spinocerebellar ataxia, autosomal recessive 1
- OMIM:614229 Spinocerebellar ataxia, autosomal recessive 11
- OMIM:616354 Spinocerebellar ataxia, autosomal recessive 20
- OMIM:616719 Spinocerebellar ataxia, autosomal recessive 21
- OMIM:617633 Spinocerebellar ataxia, autosomal recessive 26
- OMIM:618369 Spinocerebellar ataxia, autosomal recessive 27
- OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31
- OMIM:619862 Spinocerebellar ataxia, autosomal recessive 32
- 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:613330 Spondylo-megaepiphyseal-metaphyseal dysplasia
- OMIM:106300 Spondyloarthropathy, susceptibility to, 1
- OMIM:272460 Spondylocarpotarsal synostosis syndrome
- OMIM:271520 Spondylocostal dysostosis with anal atresia and urogenital anomalies
- OMIM:277300 Spondylocostal dysostosis, autosomal recessive 1
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- OMIM:602557 Spondyloepimetaphyseal dysplasia, Shohat type
- ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type
- OMIM:184250 Spondyloepimetaphyseal dysplasia, Strudwick type
- OMIM:602271 Spondylometaphyseal dysplasia, axial
- OMIM:619638 Spondylometaphyseal dysplasia, Pagnamenta type
- ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type
- OMIM:605822 Spondyloocular syndrome
- ORPHA:29822 Spontaneous periodic hypothermia
- ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology
- ORPHA:225147 Sporadic infantile bilateral striatal necrosis
- 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:370927 SSR4-CDG
- ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- OMIM:617516 Stankiewicz-Isidor syndrome
- OMIM:184705 Steinfeld syndrome
- ORPHA:3196 Steroid dehydrogenase deficiency-dental anomalies 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
- OMIM:184900 Stiff skin syndrome
- OMIM:300434 Stocco dos santos X-linked mental retardation syndrome
- OMIM:608885 Stomatin-Deficient cryohydrocytosis with neurologic defects
- OMIM:185069 Storm syndrome
- OMIM:185070 Stormorken syndrome
- ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome
- OMIM:617054 Striatonigral degeneration, childhood-onset
- OMIM:271930 Striatonigral degeneration, infantile
- OMIM:243605 Stromme syndrome
- ORPHA:370921 STT3A-CDG
- ORPHA:370924 STT3B-CDG
- ORPHA:3205 Sturge-Weber syndrome
- OMIM:601559 Stuve-Wiedemann syndrome
- OMIM:619751 Stuve-Wiedemann syndrome 2
- ORPHA:3206 Stüve-Wiedemann syndrome
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma
- ORPHA:251639 Subependymoma
- OMIM:245050 Succinyl CoA:3-oxoacid CoA transferase deficiency
- OMIM:222900 Sucrase-isomaltase deficiency, congenital
- OMIM:272000 Sucrosuria, hiatus hernia and mental retardation
- 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
- OMIM:272300 SULFOCYSTEINURIA
- ORPHA:57145 SUNCT syndrome
- ORPHA:247245 Superficial siderosis
- OMIM:601104 Supranuclear palsy, progressive, 1
- OMIM:609454 Supranuclear palsy, progressive, 2
- ORPHA:838 Susac syndrome
- OMIM:617746 Sweeney-Cox syndrome
- ORPHA:3243 Sweet syndrome
- ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:98915 Synaptic congenital myasthenic syndromes
- ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:84064 Syndromic diarrhea
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:281090 Syndromic recessive X-linked ichthyosis
- ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy
- ORPHA:188 Systemic capillary leak syndrome
- ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm
- ORPHA:158 Systemic primary carnitine deficiency
- 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:618398 T-cell lymphoma, subcutaneous panniculitis-like
- 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
- ORPHA:2886 TARP syndrome
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- OMIM:615879 Tatton-Brown-Rahman syndrome
- ORPHA:845 Tay-Sachs disease
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:145420 Teebi hypertelorism syndrome 1
- OMIM:187300 Telangiectasia, hereditary hemorrhagic, type 1
- OMIM:600376 Telangiectasia, hereditary hemorrhagic, type 2
- OMIM:615506 Telangiectasia, hereditary hemorrhagic, type 5
- ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder
- ORPHA:284227 TEMPI syndrome
- ORPHA:254516 Temple syndrome
- OMIM:616222 Temple syndrome
- ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
- ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation
- ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion
- OMIM:611816 Temple-Baraitser syndrome
- ORPHA:420561 Temple-Baraitser syndrome
- OMIM:616260 Tenorio syndrome
- OMIM:273120 Teratoma, pineal
- 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:273390 Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities
- OMIM:273395 Tetraamelia, autosomal recessive
- ORPHA:3301 Tetraamelia-multiple malformations syndrome
- ORPHA:884 Tetrasomy 12p
- ORPHA:3307 Tetrasomy 18p
- ORPHA:3309 Tetrasomy 5p
- ORPHA:3310 Tetrasomy 9p
- ORPHA:1780 Thakker-Donnai syndrome
- OMIM:603902 Thalassemia-beta, dominant inclusion-body
- OMIM:273680 Thanatophoric dysplasia, glasgow variant
- OMIM:187600 Thanatophoric dysplasia, type I
- OMIM:607483 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
- 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:1759 Thoraco-abdominal enteric duplication
- OMIM:313850 Thoracoabdominal syndrome
- OMIM:187950 Thrombocythemia 1
- OMIM:314050 Thrombocytopenia with beta-thalassemia, X-linked
- OMIM:617441 Thrombocytopenia, anemia, and myelofibrosis
- OMIM:188025 Thrombocytopenia, Paris-Trousseau type
- ORPHA:54057 Thrombotic thrombocytopenic purpura
- OMIM:274150 Thrombotic thrombocytopenic purpura, hereditary
- ORPHA:83471 Thymic aplasia
- ORPHA:97289 Thymic neuroendocrine tumor
- ORPHA:100100 Thymic tumor
- OMIM:274265 Thymic-Renal-Anal-Lung dysplasia
- ORPHA:99867 Thymoma
- ORPHA:95712 Thyroid ectopia
- ORPHA:95719 Thyroid hemiagenesis
- OMIM:274400 Thyroid hormonogenesis, genetic defect in, 1
- ORPHA:95720 Thyroid hypoplasia
- ORPHA:97285 Thyroid lymphoma
- ORPHA:79102 Thyrotoxic periodic paralysis
- OMIM:275120 Thyrotropin-Releasing hormone deficiency
- ORPHA:3329 Tibial aplasia-ectrodactyly syndrome
- ORPHA:297 Tick-borne encephalitis
- OMIM:275190 Tiglic acidemia
- 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
- ORPHA:857 Townes-Brocks syndrome
- OMIM:107480 Townes-Brocks syndrome 1
- OMIM:617466 Townes-Brocks syndrome 2
- ORPHA:537 Toxic epidermal necrolysis
- ORPHA:230800 Toxin-mediated infectious botulism
- ORPHA:3348 Tracheobronchopathia osteochondroplastica
- OMIM:189960 Tracheoesophageal fistula with or without esophageal atresia
- OMIM:606003 Transaldolase deficiency
- ORPHA:101028 Transaldolase deficiency
- OMIM:275350 Transcobalamin II deficiency
- ORPHA:99886 Transient neonatal diabetes mellitus
- ORPHA:488618 Transketolase deficiency
- ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18
- ORPHA:861 Treacher-Collins syndrome
- OMIM:618939 Treacher-Collins syndrome 4
- OMIM:612119 Trehalase deficiency
- ORPHA:103909 Trehalase deficiency
- OMIM:190310 Tremor, nystagmus, and duodenal ulcer
- ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome
- ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome
- ORPHA:863 Trichinellosis
- OMIM:222470 Trichohepatoenteric syndrome 1
- OMIM:614602 Trichohepatoenteric syndrome 2
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:616395 Trichothiodystrophy 3, photosensitive
- OMIM:300953 Trichothiodystrophy 5, nonphotosensitive
- ORPHA:221091 Trigeminal neuralgia
- OMIM:190440 Trigonocephaly 1
- 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
- OMIM:615512 Triosephosphate isomerase deficiency
- ORPHA:869 Triple A syndrome
- ORPHA:3376 Triploidy
- ORPHA:171929 Trisomy 10p
- ORPHA:1699 Trisomy 12p
- ORPHA:3380 Trisomy 18
- ORPHA:1715 Trisomy 18p
- ORPHA:261344 Trisomy 1q
- ORPHA:261318 Trisomy 20p
- ORPHA:264450 Trisomy 8p
- OMIM:608189 Tropical calcific pancreatitis
- ORPHA:75565 Tropical endomyocardial fibrosis
- ORPHA:103918 Tropical pancreatitis
- ORPHA:91347 TSH-secreting pituitary adenoma
- ORPHA:805 Tuberous sclerosis complex
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- OMIM:191150 Tuftsin deficiency
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:619975 Tumor predisposition syndrome 2
- 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:148500 Tylosis with esophageal cancer
- OMIM:238600 Type I hyperlipoproteinemia
- ORPHA:99745 Typhoid
- ORPHA:171436 Typical nemaline myopathy
- ORPHA:882 Tyrosinemia type 1
- OMIM:276700 Tyrosinemia, type I
- OMIM:276710 Tyrosinemia, type III
- OMIM:615102 Tyshchenko syndrome
Code pathologie
Nom de la pathologie
- OMIM:254090 Ullrich congenital muscular dystrophy 1
- ORPHA:3138 Ulnar-mammary syndrome
- OMIM:181450 Ulnar-Mammary syndrome
- ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome
- ORPHA:2023 Undifferentiated pleomorphic sarcoma
- ORPHA:268943 Unilateral polymicrogyria
- ORPHA:488 Urachal cyst
- OMIM:236730 Urofacial syndrome
- OMIM:615112 Urofacial syndrome 2
Code pathologie
Nom de la pathologie
- OMIM:276950 Vacterl association with hydrocephalus
- OMIM:314390 VACTERL association, X-linked
- ORPHA:3412 VACTERL with hydrocephalus
- ORPHA:887 VACTERL/VATER association
- OMIM:601846 Vacuolar neuromyopathy
- ORPHA:65681 Vaginal atresia
- OMIM:277100 VALINEMIA
- OMIM:301030 Van Esch-O'Driscoll syndrome
- OMIM:601390 Van Maldergem syndrome 1
- OMIM:615546 Van maldergem syndrome 2
- ORPHA:314652 Variant ABeta2M amyloidosis
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:277175 Vascular hyalinosis
- OMIM:606893 Vascular malformation, primary intraosseous
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy
- OMIM:192350 Vater associationvacterl association, included
- OMIM:192430 Velocardiofacial syndrome
- OMIM:600195 Venous malformations, multiple cutaneous and mucosal
- ORPHA:505395 Ventilator-induced diaphragmatic dysfunction
- OMIM:615583 Verheij syndrome
- OMIM:619122 Vertebral hypersegmentation and orofacial anomalies
- OMIM:617661 Vertebral, cardiac, renal, and limb defects syndrome 2
- 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:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- ORPHA:97282 VIPoma
- OMIM:155310 Visceral myopathy 1
- OMIM:619350 Visceral myopathy 2
- OMIM:277320 Visceral myopathy, familial, with external ophthalmoplegia
- OMIM:619465 Visceral neuropathy, familial, 2, autosomal recessive
- OMIM:243180 Visceral neuropathy, familial, autosomal recessive
- ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- OMIM:228100 Visceral steatosis, congenital
- OMIM:619472 VISS syndrome
- ORPHA:28 Vitamin B12-responsive methylmalonic acidemia
- ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia
- ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-
- ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0
- OMIM:264700 Vitamin D hydroxylation-deficient rickets, type 1A
- ORPHA:600 Vocal cord and pharyngeal distal myopathy
- OMIM:193250 Volvulus of midgut
- ORPHA:892 Von Hippel-Lindau disease
- OMIM:193300 von Hippel-Lindau syndrome
- OMIM:193400 Von willebrand disease, type 1
- ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy
Code pathologie
Nom de la pathologie
- ORPHA:3440 Waardenburg syndrome
- ORPHA:894 Waardenburg syndrome type 1
- ORPHA:895 Waardenburg syndrome type 2
- OMIM:148820 Waardenburg syndrome, type 3
- OMIM:613265 Waardenburg syndrome, type 4B
- OMIM:613266 Waardenburg syndrome, type 4C
- ORPHA:897 Waardenburg-Shah syndrome
- OMIM:277580 Waardenburg-Shah syndrome
- ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- OMIM:615663 Warburg micro syndrome 4
- ORPHA:572798 WARS2-related combined oxidative phosphorylation defect
- ORPHA:3447 Weaver syndrome
- OMIM:277590 Weaver syndrome
- OMIM:615926 Webb-Dattani syndrome
- OMIM:608328 Weill-Marchesani syndrome 2, dominant
- OMIM:618619 Weiss-Kruszka syndrome
- ORPHA:99971 Well-differentiated liposarcoma
- ORPHA:902 Werner syndrome
- ORPHA:51636 WHIM syndrome
- ORPHA:3452 Whipple disease
- OMIM:277720 Whistling face syndrome, recessive form
- OMIM:619426 White-Kernohan syndrome
- OMIM:616364 White-Sutton syndrome
- ORPHA:468678 White-Sutton syndrome
- OMIM:314580 Wieacker-Wolff syndrome
- OMIM:301041 Wieacker-Wolff syndrome, female-restricted
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:319182 Wiedemann-Steiner syndrome
- OMIM:605130 Wiedemann-Steiner syndrome
- ORPHA:85446 Wild type ABeta2M amyloidosis
- ORPHA:330001 Wild type ATTR amyloidosis
- ORPHA:904 Williams syndrome
- OMIM: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
- ORPHA:280 Wolf-Hirschhorn syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:3463 Wolfram syndrome
- OMIM:222300 Wolfram syndrome 1
- OMIM:604928 Wolfram syndrome 2
- ORPHA:411590 Wolfram-like syndrome
- ORPHA:75233 Wolman disease
- 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:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:596 X-linked centronuclear myopathy
- ORPHA:139396 X-linked cerebral adrenoleukodystrophy
- ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome
- ORPHA:1497 X-linked complicated corpus callosum dysgenesis
- ORPHA:52503 X-linked creatine transporter deficiency
- ORPHA:53351 X-linked dystonia-parkinsonism
- ORPHA:75497 X-linked Ehlers-Danlos syndrome
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:85276 X-linked intellectual disability, Armfield type
- ORPHA:85293 X-linked intellectual disability, Cabezas type
- ORPHA:85277 X-linked intellectual disability, Cantagrel type
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:85322 X-linked intellectual disability, Pai type
- ORPHA:85285 X-linked intellectual disability, Schimke type
- ORPHA:85325 X-linked intellectual disability, Stevenson type
- ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type
- ORPHA:85290 X-linked intellectual disability, Wilson type
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
- ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
- ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
- ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome
- ORPHA:452 X-linked lissencephaly with abnormal genitalia
- ORPHA:2442 X-linked lymphoproliferative disease
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome
- ORPHA:75563 X-linked sideroblastic anemia
- ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome
- ORPHA:100997 X-linked spastic paraplegia type 16
- OMIM:610965 XFE progeroid syndrome
- ORPHA:3469 XK aprosencephaly syndrome
- ORPHA:261476 Xp21 deletion syndrome
- ORPHA:284180 Xp22.13p22.2 duplication syndrome
- ORPHA:1643 Xp22.3 microdeletion syndrome
- ORPHA:370930 XYLT1-CDG
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
Gènes associés :
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- A
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- C
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- E
- F
- G
- H
- I
- J
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- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
Nom du gène
- AAAS
- AAGAB
- AARS1
- AARS2
- AASS
- ABCA1
- ABCA12
- ABCA3
- ABCB1
- ABCB11
- ABCB4
- ABCC2
- ABCC8
- ABCC9
- ABCD1
- ABCD3
- ABCD4
- ABCG5
- ABCG8
- ABHD5
- ABL1
- ACAD8
- ACAD9
- ACADM
- ACADS
- ACADVL
- ACAT1
- ACD
- ACOX1
- ACOX2
- ACP5
- ACSF3
- ACTA1
- ACTA2
- ACTB
- ACTG1
- ACTG2
- ACTL6B
- ACTN2
- ACTN4
- ACVR2B
- ACVRL1
- ACY1
- ADA
- ADA2
- ADAM17
- ADAMTS13
- ADAMTS2
- ADAMTS3
- ADAMTSL2
- ADAR
- ADARB1
- ADAT3
- ADCY6
- ADD3
- ADGRG1
- ADH1C
- ADK
- ADNP
- AEBP1
- AFF3
- AFF4
- AFG3L2
- AGA
- AGGF1
- AGL
- AGO2
- AGPAT2
- AGRN
- AGTPBP1
- AHCY
- AHDC1
- AHI1
- AICDA
- AIFM1
- AIMP1
- AIMP2
- AIP
- AIRE
- AK2
- AKR1D1
- AKT1
- AKT2
- ALAD
- ALAS2
- ALDH18A1
- ALDH1A2
- ALDH4A1
- ALDH6A1
- ALDH7A1
- ALDOA
- ALDOB
- ALG1
- ALG11
- ALG12
- ALG13
- ALG14
- ALG2
- ALG3
- ALG5
- ALG6
- ALG8
- ALG9
- ALKBH8
- ALMS1
- ALPK1
- ALPL
- ALS2
- ALX4
- AMACR
- AMER1
- AMH
- AMHR2
- AMN
- AMPD2
- ANAPC1
- ANG
- ANK1
- ANKFY1
- ANKRD11
- ANKRD17
- ANKRD55
- ANKS6
- ANLN
- ANO1
- ANTXR1
- ANTXR2
- ANXA11
- AOPEP
- AP1B1
- AP1S1
- AP1S2
- AP2S1
- AP3B1
- AP3B2
- AP3D1
- APC
- APC2
- APOA1
- APOB
- APOC2
- APOE
- APOL1
- APP
- APPL1
- APRT
- AQP2
- ARCN1
- ARF1
- ARFGEF2
- ARG1
- ARHGAP24
- ARHGAP29
- ARHGAP31
- ARHGDIA
- ARID1A
- ARID1B
- ARID2
- ARL13B
- ARL3
- ARL6
- ARL6IP6
- ARMC5
- ARMC9
- ARNT2
- ARPC1B
- ARPC4
- ARSA
- ARSB
- ARSL
- ARV1
- ARVCF
- ASAH1
- ASCC1
- ASCL1
- ASH1L
- ASL
- ASNS
- ASPA
- ASS1
- ASXL1
- ASXL2
- ASXL3
- ATAD1
- ATAD3A
- ATG7
- ATL1
- ATL3
- ATM
- ATP10A
- ATP11A
- ATP11C
- ATP13A2
- ATP1A2
- ATP1A3
- ATP2A2
- ATP6AP1
- ATP6AP2
- ATP6V0A1
- ATP6V0A2
- ATP6V0A4
- ATP6V1A
- ATP6V1B2
- ATP6V1E1
- ATP7A
- ATP7B
- ATP8B1
- ATPAF2
- ATRX
- AUH
- AURKA
- AUTS2
- AVP
- AVPR2
- AXIN1
- AXIN2
Nom du gène
- B2M
- B3GALT6
- B3GAT3
- B3GLCT
- B4GALNT1
- B4GALT1
- B9D1
- B9D2
- BAAT
- BACH2
- BAP1
- BARD1
- BAX
- BAZ1B
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BCHE
- BCKDHA
- BCKDHB
- BCL10
- BCL11A
- BCL11B
- BCL2
- BCL6
- BCL7B
- BCOR
- BCR
- BCS1L
- BDNF
- BHLHA9
- BICC1
- BICD2
- BICRA
- BIN1
- BIRC3
- BLK
- BLM
- BLNK
- BLVRA
- BMP1
- BMP2
- BMP4
- BMP6
- BMPER
- BMPR1A
- BOLA3
- BPGM
- BPTF
- BRAF
- BRAT1
- BRCA1
- BRCA2
- BRD4
- BRF1
- BRIP1
- BRPF1
- BSCL2
- BSND
- BTD
- BTK
- BTNL2
- BUB1
- BUB1B
- BUB3
- BUD23
Nom du gène
- C1QBP
- C1R
- C1S
- C2CD3
- C2orf69
- C4A
- C4B
- C5
- CA12
- CA2
- CACNA1B
- CACNA1C
- CACNA1D
- CACNA1G
- CACNA1I
- CACNA1S
- CACNA2D1
- CALR
- CAMK2A
- CAMK2B
- CAMTA1
- CANT1
- CAPN15
- CARD10
- CARD11
- CARD8
- CARMIL2
- CARS1
- CARS2
- CASK
- CASP10
- CASP8
- CASR
- CASZ1
- CAV1
- CAVIN1
- CBL
- CBLIF
- CBS
- CBY1
- CC2D2A
- CCBE1
- CCDC103
- CCDC115
- CCDC22
- CCDC28B
- CCDC32
- CCDC39
- CCDC40
- CCDC47
- CCDC65
- CCDC88A
- CCM2
- CCN2
- CCND1
- CCNF
- CCNO
- CCNQ
- CCR1
- CCR6
- CD109
- CD19
- CD247
- CD27
- CD28
- CD2AP
- CD3D
- CD3E
- CD3G
- CD40LG
- CD46
- CD55
- CD70
- CD79A
- CD79B
- CD81
- CD96
- CDAN1
- CDC42
- CDC42BPB
- CDC45
- CDC6
- CDC73
- CDCA7
- CDH1
- CDH11
- CDH23
- CDIN1
- CDK13
- CDK19
- CDK4
- CDK8
- CDKL5
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2A
- CDKN2B
- CDKN2C
- CDON
- CDT1
- CEACAM3
- CEACAM6
- CEBPE
- CEL
- CELF2
- CENPF
- CENPT
- CEP104
- CEP120
- CEP164
- CEP19
- CEP290
- CEP41
- CEP57
- CEP83
- CEP85L
- CFAP221
- CFAP298
- CFAP300
- CFAP410
- CFAP418
- CFAP43
- CFAP45
- CFAP52
- CFAP53
- CFB
- CFC1
- CFH
- CFHR1
- CFHR3
- CFI
- CFL2
- CFTR
- CHAMP1
- CHAT
- CHCHD10
- CHCHD2
- CHD4
- CHD7
- CHD8
- CHEK2
- CHKA
- CHMP1A
- CHMP2B
- CHN1
- CHRM3
- CHRNA1
- CHRNA3
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- CHST14
- CHST3
- CHUK
- CIDEC
- CIITA
- CIROP
- CISD2
- CLCA4
- CLCF1
- CLCN1
- CLCN2
- CLCN3
- CLCN4
- CLCN6
- CLCN7
- CLCNKA
- CLCNKB
- CLDN1
- CLDN16
- CLDN19
- CLEC7A
- CLIP2
- CLMP
- CLN3
- CLN8
- CLPB
- CLTC
- CLTCL1
- CLTRN
- CNKSR2
- CNOT1
- CNOT2
- CNOT3
- CNP
- CNTN1
- CNTNAP1
- CNTNAP2
- COA8
- COG1
- COG2
- COG4
- COG5
- COG6
- COG7
- COG8
- COL11A1
- COL11A2
- COL13A1
- COL14A1
- COL17A1
- COL18A1
- COL1A1
- COL1A2
- COL25A1
- COL2A1
- COL3A1
- COL4A3
- COL4A5
- COL4A6
- COL5A1
- COL5A2
- COL6A1
- COL6A2
- COL6A3
- COL7A1
- COLEC10
- COLEC11
- COLQ
- COMT
- COQ2
- COQ4
- COQ7
- COQ8B
- COQ9
- CORIN
- COX10
- COX14
- COX15
- COX16
- COX4I2
- COX5A
- COX6B1
- COX7B
- COX8A
- CP
- CPA1
- CPLANE1
- CPLX1
- CPOX
- CPS1
- CPSF3
- CPT1A
- CPT2
- CR2
- CRB2
- CREBBP
- CRKL
- CRLF1
- CRYAB
- CSF1R
- CSF3R
- CSGALNACT1
- CSNK2A1
- CSPP1
- CTBP1
- CTC1
- CTCF
- CTHRC1
- CTLA4
- CTNNB1
- CTNND1
- CTNND2
- CTNS
- CTRC
- CTSA
- CTSC
- CTSK
- CUBN
- CUL3
- CUL4B
- CWC27
- CXCR4
- CYBA
- CYBB
- CYBC1
- CYC1
- CYFIP2
- CYP11A1
- CYP11B1
- CYP11B2
- CYP19A1
- CYP24A1
- CYP27A1
- CYP27B1
- CYP2R1
- CYP7A1
- CYP7B1
Nom du gène
- D2HGDH
- DAAM2
- DACT1
- DALRD3
- DAO
- DAXX
- DBH
- DBT
- DCC
- DCDC2
- DCHS1
- DCLRE1B
- DCLRE1C
- DCTN1
- DCTN4
- DCX
- DDB1
- DDC
- DDHD2
- DDIT3
- DDOST
- DDRGK1
- DDX59
- DDX6
- DEAF1
- DEF6
- DEGS1
- DES
- DGAT1
- DGCR2
- DGCR6
- DGCR8
- DGUOK
- DHCR24
- DHCR7
- DHDDS
- DHFR
- DHODH
- DHPS
- DHX30
- DICER1
- DIS3L2
- DISP1
- DKC1
- DKK1
- DLAT
- DLC1
- DLD
- DLEC1
- DLG1
- DLK1
- DLL1
- DLL3
- DLL4
- DLST
- DLX4
- DMP1
- DMXL2
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DNAJB11
- DNAJB13
- DNAJB6
- DNAJC13
- DNAJC19
- DNAJC21
- DNAJC30
- DNAJC6
- DNAL1
- DNASE1L3
- DNASE2
- DNM1
- DNM1L
- DNM2
- DNMT3A
- DNMT3B
- DOCK2
- DOCK6
- DOCK8
- DOHH
- DOK7
- DOLK
- DPAGT1
- DPF2
- DPH1
- DPH5
- DPM1
- DPM2
- DPP9
- DPYD
- DPYS
- DPYSL5
- DRC1
- DSE
- DSP
- DST
- DSTYK
- DTYMK
- DUOX2
- DUOXA2
- DVL1
- DVL3
- DYM
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYRK1A
- DYSF
- DZIP1L
Nom du gène
- EARS2
- EBF3
- ECE1
- ECHS1
- ECM1
- EDA
- EDEM3
- EDN1
- EDN3
- EDNRA
- EDNRB
- EED
- EEF1A2
- EFEMP2
- EFL1
- EFNB1
- EFTUD2
- EGFR
- EHMT1
- EIF2AK2
- EIF2AK3
- EIF4G1
- EIF4H
- EIF5A
- ELANE
- ELF4
- ELMO2
- ELN
- ELOVL4
- ELP1
- EMC1
- EMG1
- EMP2
- EN1
- ENG
- ENPP1
- EOGT
- EP300
- EPAS1
- EPB41
- EPB41L1
- EPB42
- EPCAM
- EPG5
- EPHA4
- EPHB4
- EPM2A
- EPOR
- EPRS1
- ERAP1
- ERBB2
- ERBB3
- ERBB4
- ERCC1
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC8
- ERGIC1
- ERLIN2
- ERMARD
- ESCO2
- ESR1
- ESS2
- ETFA
- ETFB
- ETFDH
- ETHE1
- EWSR1
- EXOC2
- EXOSC3
- EXOSC5
- EXOSC8
- EXOSC9
- EXT1
- EXT2
- EXTL3
- EYA1
- EZH2
Nom du gène
- F10
- F11
- F12
- F13A1
- F13B
- F2
- F5
- F7
- FA2H
- FADD
- FAH
- FAM111A
- FAM111B
- FAM13A
- FAM149B1
- FAN1
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FAR1
- FARS2
- FARSA
- FARSB
- FAS
- FASLG
- FAT4
- FBLN5
- FBN1
- FBN2
- FBP1
- FBP2
- FBXL4
- FBXO28
- FBXO7
- FBXW11
- FBXW7
- FCGR2A
- FCGR2C
- FCGR3B
- FCHO1
- FCN3
- FCSK
- FDFT1
- FDX2
- FECH
- FERMT1
- FERMT3
- FGA
- FGB
- FGD1
- FGF10
- FGF12
- FGF13
- FGF20
- FGF8
- FGFR1
- FGFR2
- FGFR3
- FGFRL1
- FGG
- FH
- FIBP
- FIG4
- FIP1L1
- FKBP14
- FKBP6
- FKRP
- FKTN
- FLAD1
- FLCN
- FLI1
- FLII
- FLNA
- FLNB
- FLNC
- FLT1
- FLVCR1
- FMO3
- FNIP1
- FOCAD
- FOS
- FOXA2
- FOXC1
- FOXE1
- FOXE3
- FOXF1
- FOXG1
- FOXH1
- FOXJ1
- FOXP1
- FOXP2
- FOXP3
- FOXRED1
- FRAS1
- FREM1
- FREM2
- FRG1
- FRMD5
- FSHR
- FTL
- FTO
- FUCA1
- FUS
- FUT8
- FUZ
- FZD2
- FZR1
Nom du gène
- G6PC1
- G6PC3
- G6PD
- GAA
- GABBR2
- GABRA2
- GABRA3
- GABRA5
- GABRB2
- GABRD
- GABRG2
- GAD1
- GALC
- GALE
- GALK1
- GALM
- GALNS
- GALNT2
- GALT
- GAMT
- GAN
- GANAB
- GAPVD1
- GAS1
- GAS2L2
- GAS8
- GATA1
- GATA2
- GATA4
- GATA6
- GATAD2B
- GATC
- GBA1
- GBA2
- GBE1
- GCDH
- GCGR
- GCH1
- GCK
- GCLC
- GCM2
- GDAP2
- GDF1
- GDF11
- GDF2
- GDF3
- GDF6
- GDNF
- GEMIN4
- GFAP
- GFI1
- GFI1B
- GFM1
- GFM2
- GFPT1
- GFRA1
- GGPS1
- GH1
- GHSR
- GIGYF2
- GIMAP5
- GINS1
- GJA1
- GJB1
- GJC2
- GK
- GLA
- GLB1
- GLE1
- GLI2
- GLI3
- GLIS3
- GLMN
- GLRA1
- GLRA2
- GLRB
- GLRX5
- GLT8D1
- GLUD1
- GLUD2
- GLYCTK
- GMNN
- GMPPA
- GMPPB
- GNA11
- GNAI1
- GNAI3
- GNAO1
- GNAQ
- GNAS
- GNB1
- GNB2
- GNB5
- GNE
- GNMT
- GNPTAB
- GNS
- GON7
- GOT2
- GP1BA
- GP1BB
- GP9
- GPC3
- GPC4
- GPC6
- GPD1
- GPHN
- GPI
- GPIHBP1
- GPR35
- GPT2
- GRB10
- GREB1L
- GREM1
- GRHL2
- GRHL3
- GRIA1
- GRIA4
- GRIN1
- GRIN2B
- GRIN2D
- GRIP1
- GRM1
- GRM7
- GSC
- GSN
- GSTM3
- GSTZ1
- GSX2
- GTF2E2
- GTF2H5
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GTPBP3
- GUCY1A1
- GUCY2C
- GUCY2D
- GUF1
- GUSB
- GYPC
- GYS2
- GZF1
Nom du gène
- H1-4
- H19
- H3-3A
- H3-3B
- H4C3
- H4C5
- H4C9
- HABP2
- HACD1
- HADH
- HADHA
- HADHB
- HAMP
- HAVCR2
- HBA1
- HBA2
- HBB
- HBG1
- HBG2
- HCCS
- HCN1
- HDAC4
- HDAC8
- HEATR3
- HECW2
- HELLPAR
- HELLS
- HEPACAM
- HERC2
- HES7
- HESX1
- HEXB
- HEY2
- HFE
- HGSNAT
- HIBCH
- HIC1
- HIKESHI
- HIRA
- HIVEP2
- HJV
- HK1
- HLA-B
- HLA-DPA1
- HLA-DPB1
- HLA-DQA1
- HLA-DQB1
- HLA-DRB1
- HLCS
- HMBS
- HMGA2
- HMGCL
- HMGCS2
- HMOX1
- HNF1A
- HNF1B
- HNF4A
- HNRNPA1
- HNRNPA2B1
- HNRNPH1
- HNRNPH2
- HNRNPK
- HNRNPR
- HNRNPU
- HOXB1
- HOXD13
- HPCA
- HPD
- HPDL
- HPGD
- HPRT1
- HPS1
- HPSE2
- HRAS
- HS2ST1
- HS3ST6
- HS6ST2
- HSD17B10
- HSD17B4
- HSD3B2
- HSD3B7
- HSPA9
- HSPD1
- HSPG2
- HTRA1
- HTRA2
- HYLS1
- HYMAI
- HYOU1
Nom du gène
- IARS1
- IARS2
- IBA57
- ICOS
- IDH1
- IDH2
- IDUA
- IER3IP1
- IFIH1
- IFNG
- IFNGR1
- IFT122
- IFT140
- IFT172
- IFT27
- IFT43
- IFT52
- IFT74
- IFT80
- IFT81
- IGBP1
- IGF2
- IGF2R
- IGH
- IGHG2
- IGHM
- IGHMBP2
- IGKC
- IGLL1
- IKBKB
- IKBKG
- IKZF1
- IKZF3
- IL10
- IL10RA
- IL10RB
- IL12A
- IL12A-AS1
- IL12B
- IL12RB1
- IL17F
- IL17RA
- IL17RC
- IL18BP
- IL1B
- IL1RN
- IL21
- IL21R
- IL23R
- IL2RA
- IL2RB
- IL2RG
- IL36RN
- IL37
- IL6
- IL6ST
- IL7R
- INAVA
- INF2
- INPP5E
- INPPL1
- INS
- INSR
- INTU
- INVS
- IPO8
- IPW
- IQCB1
- IQSEC2
- IRAK1
- IRAK4
- IRF1
- IRF2BP2
- IRF2BPL
- IRF4
- IRF5
- IRF6
- IRF8
- IRF9
- IRGM
- IRX5
- ISCA1
- ISL1
- ITCH
- ITGA2
- ITGA2B
- ITGA6
- ITGA7
- ITGA8
- ITGB2
- ITGB3
- ITGB4
- ITK
- ITPA
- IVD
- IVNS1ABP
- IYD
Nom du gène
- KANSL1
- KARS1
- KAT6A
- KAT6B
- KAT8
- KATNB1
- KATNIP
- KBTBD13
- KCNA1
- KCNA2
- KCNAB2
- KCNB1
- KCNC2
- KCNC3
- KCND3
- KCNH1
- KCNJ1
- KCNJ11
- KCNJ18
- KCNJ5
- KCNJ8
- KCNK4
- KCNK9
- KCNN3
- KCNN4
- KCNQ1
- KCNQ1OT1
- KCNQ2
- KCNQ3
- KCNQ5
- KDM1A
- KDM3B
- KDM5B
- KDM5C
- KDM6A
- KEAP1
- KIAA0319L
- KIAA0586
- KIAA0753
- KIF12
- KIF15
- KIF1A
- KIF1B
- KIF20A
- KIF23
- KIF3B
- KIF5A
- KIF7
- KIFBP
- KIT
- KITLG
- KLF1
- KLF11
- KLF6
- KLHL40
- KLHL41
- KLHL7
- KLLN
- KLRC4
- KMT2A
- KMT2B
- KMT2C
- KMT2D
- KMT2E
- KMT5B
- KNSTRN
- KPTN
- KRAS
- KRIT1
- KRT1
- KRT10
- KRT14
- KRT16
- KRT17
- KRT18
- KRT5
- KRT6A
- KRT6B
- KY
- KYNU
Nom du gène
- L1CAM
- LACC1
- LAGE3
- LAMA2
- LAMA3
- LAMA5
- LAMB2
- LAMB3
- LAMC2
- LARGE1
- LARS1
- LARS2
- LAT
- LBR
- LBX1
- LCAT
- LCK
- LCT
- LDHD
- LDLR
- LDLRAP1
- LEMD2
- LEMD3
- LETM1
- LFNG
- LHX1
- LHX3
- LHX4
- LIAS
- LIFR
- LIG3
- LIG4
- LIMK1
- LINGO1
- LIPA
- LIPE
- LIPT1
- LIPT2
- LMAN1
- LMBRD1
- LMF1
- LMNA
- LMNB1
- LMNB2
- LMOD1
- LMOD3
- LMX1B
- LONP1
- LOX
- LPIN2
- LPL
- LRBA
- LRIG2
- LRP12
- LRP2
- LRP4
- LRP5
- LRPPRC
- LRRC56
- LRRC8A
- LRRK2
- LSM11
- LTBP1
- LTBP3
- LTBP4
- LUZP1
- LYRM4
- LYSET
- LYST
- LYZ
- LZTFL1
- LZTR1
- LZTS1
Nom du gène
- MACF1
- MAD2L2
- MADD
- MAF
- MAFA
- MAFB
- MAGEL2
- MAGI2
- MAGT1
- MALT1
- MAMLD1
- MAN2B1
- MAN2C1
- MANBA
- MAOA
- MAP1B
- MAP2K1
- MAP2K2
- MAP3K20
- MAP3K7
- MAPK1
- MAPK8IP3
- MAPRE2
- MAPT
- MARS1
- MARS2
- MASP1
- MASP2
- MAT2A
- MATR3
- MAX
- MBD4
- MBD5
- MBTPS2
- MC1R
- MC2R
- MCC
- MCCC1
- MCCC2
- MCEE
- MCFD2
- MCIDAS
- MCM10
- MCM4
- MCM6
- MCOLN1
- MDFIC
- MDH2
- MDM2
- MECOM
- MECP2
- MECR
- MED12
- MED12L
- MED13
- MED13L
- MED17
- MED23
- MED25
- MED27
- MEF2C
- MEFV
- MEG3
- MEGF10
- MEGF8
- MEIS2
- MEN1
- MEOX1
- MESP2
- MET
- METTL27
- MFAP5
- MFF
- MFN2
- MGAT2
- MGME1
- MGMT
- MICOS13
- MICU1
- MID1
- MIF
- MINPP1
- MIPEP
- MIR17HG
- MITF
- MKKS
- MKRN3
- MKS1
- MLH1
- MLH3
- MLX
- MLXIPL
- MLYCD
- MMAA
- MMAB
- MMACHC
- MMADHC
- MMEL1
- MMP1
- MMP14
- MMP2
- MMP21
- MMP23B
- MMUT
- MN1
- MNS1
- MNX1
- MOCS1
- MOCS2
- MOGS
- MPC1
- MPDU1
- MPEG1
- MPI
- MPIG6B
- MPL
- MPLKIP
- MPV17
- MPZ
- MRAP
- MRAS
- MRE11
- MRM2
- MRPL3
- MRPL44
- MRPS16
- MRPS22
- MRPS23
- MRPS25
- MRPS28
- MRPS34
- MRPS7
- MS4A1
- MSH2
- MSH3
- MSH6
- MSL3
- MSR1
- MST1
- MSX1
- MSX2
- MT-ATP6
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- 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
- MTHFD1
- MTHFR
- MTHFS
- MTM1
- MTMR14
- MTO1
- MTOR
- MTR
- MTRFR
- MTRR
- MTTP
- MTX2
- MUC5B
- MUSK
- MUTYH
- MVK
- MYBPC3
- MYC
- MYCN
- MYD88
- MYF6
- MYH11
- MYH14
- MYH2
- MYH3
- MYH7
- MYH8
- MYL1
- MYL2
- MYL9
- MYLK
- MYMK
- MYO1E
- MYO1H
- MYO5B
- MYO9A
- MYOD1
- MYORG
- MYOT
- MYPN
- MYRF
Nom du gène
- NAA10
- NAA15
- NAA20
- NAB2
- NABP1
- NACC1
- NADK2
- NAGA
- NAGLU
- NAGS
- NALCN
- NAPB
- NARS2
- NAT8L
- NAXD
- NBAS
- NBEAL2
- NBN
- NCAPG2
- NCF2
- NCF4
- NCKAP1L
- NDE1
- NDN
- NDUFA1
- NDUFA11
- NDUFA6
- NDUFA8
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB8
- NDUFB9
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NECAP1
- NECTIN1
- NEDD4L
- NEFH
- NEFL
- NEK1
- NEK10
- NEK8
- NEK9
- NELFA
- NEPRO
- NEU1
- NEUROD1
- NEUROD2
- NEUROG3
- NEXMIF
- NF2
- NFASC
- NFE2L2
- NFIA
- NFIX
- NFKB1
- NFKB2
- NFKBIA
- NFS1
- NFU1
- NGLY1
- NHLRC1
- NHLRC2
- NHP2
- NIPBL
- NKX2-1
- NKX2-5
- NKX3-2
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NME8
- NNT
- NOD2
- NODAL
- NONO
- NOP10
- NOS1
- NOTCH1
- NOTCH3
- NOVA2
- NPAP1
- NPC1
- NPC2
- NPHP1
- NPHP3
- NPHP4
- NPHS1
- NPHS2
- NPM1
- NPPA
- NR1H4
- NR2F1
- NR3C2
- NR4A2
- NRAS
- NRCAM
- NRTN
- NRXN1
- NSD1
- NSD2
- NSDHL
- NSMCE2
- NSMCE3
- NSRP1
- NSUN2
- NTHL1
- NTNG1
- NTRK1
- NTRK2
- NUBPL
- NUDT2
- NUMA1
- NUP107
- NUP133
- NUP160
- NUP205
- NUP214
- NUP37
- NUP62
- NUP85
- NUP88
- NUP93
- NUS1
- NUTM1
- NUTM2B-AS1
- NXN
Nom du gène
Nom du gène
- P3H1
- P4HA2
- P4HTM
- PACS1
- PAFAH1B1
- PAH
- PAICS
- PAK1
- PAK2
- PALB2
- PALLD
- PANK2
- PARK7
- PARN
- PARS2
- PAX2
- PAX3
- PAX4
- PAX7
- PAX8
- PBX1
- PC
- PCCA
- PCCB
- PCGF2
- PCK1
- PCK2
- PCNA
- PCSK1
- PCSK9
- PDCD10
- PDE10A
- PDE11A
- PDE6D
- PDE8B
- PDGFB
- PDGFRA
- PDGFRB
- PDGFRL
- PDHA1
- PDP1
- PDPN
- PDSS2
- PDX1
- PEPD
- PERCC1
- PET100
- PET117
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PFKM
- PFN1
- PGAP1
- PGAP2
- PGAP3
- PGM1
- PGM3
- PHF6
- PHGDH
- PHIP
- PHKA2
- PHKB
- PHKG2
- PHYH
- PI4KA
- PIBF1
- PIEZO1
- PIEZO2
- PIGA
- PIGB
- PIGG
- PIGL
- PIGM
- PIGN
- PIGO
- PIGP
- PIGQ
- PIGS
- PIGT
- PIGU
- PIGV
- PIGW
- PIGY
- PIK3C2A
- PIK3CA
- PIK3CD
- PIK3CG
- PIK3R1
- PIK3R5
- PINK1
- PITX2
- PKD1
- PKD1L1
- PKD2
- PKHD1
- PKLR
- PKP1
- PLA2G2A
- PLA2G4A
- PLA2G6
- PLAA
- PLAG1
- PLAGL1
- PLCB4
- PLCE1
- PLCG2
- PLCH1
- PLD1
- PLEC
- PLEKHM1
- PLG
- PLIN1
- PLOD1
- PLOD2
- PLP1
- PLPBP
- PLVAP
- PLXND1
- PML
- PMM2
- PMP22
- PMPCB
- PMS1
- PMS2
- PNKD
- PNKP
- PNLIP
- PNP
- PNPLA2
- PNPLA6
- PNPLA8
- PNPO
- PNPT1
- PODXL
- POFUT1
- POGLUT1
- POGZ
- POLA1
- POLD1
- POLE
- POLG
- POLG2
- POLR1B
- POLR1C
- POLR1D
- POLR2A
- POLR3A
- POLR3B
- POLR3GL
- POLR3K
- POLRMT
- POMC
- POMK
- POMT1
- POMT2
- PON1
- PON2
- PON3
- POR
- PORCN
- POT1
- POU1F1
- POU2AF1
- POU4F1
- POU6F2
- PPARG
- PPARGC1A
- PPFIBP1
- PPM1D
- PPOX
- PPP1CB
- PPP1R12A
- PPP1R21
- PPP2CA
- PPP2R1A
- PPP2R3C
- PPP2R5D
- PPP3CA
- PQBP1
- PRDM12
- PRDM13
- PRDM16
- PRDM5
- PRDX1
- PRDX3
- PREPL
- PRF1
- PRG4
- PRIM1
- PRKACA
- PRKAG2
- PRKAR1A
- PRKCD
- PRKCG
- PRKCSH
- PRKCZ
- PRKD1
- PRKG1
- PRKG2
- PRKN
- PRKRA
- PRMT7
- PRNP
- PROKR2
- PROP1
- PRORP
- PRPH
- PRPS1
- PRR12
- PRSS1
- PRSS2
- PRTN3
- PRUNE1
- PSAP
- PSAT1
- PSEN1
- PSENEN
- PSMB10
- PSMB4
- PSMB8
- PSMB9
- PSMC1
- PSMD12
- PSMG2
- PSPH
- PSTPIP1
- PTCD3
- PTCH1
- PTCH2
- PTDSS1
- PTEN
- PTF1A
- PTH1R
- PTPN11
- PTPN12
- PTPN2
- PTPN22
- PTPN23
- PTPN3
- PTPRC
- PTPRJ
- PTPRO
- PTRH2
- PTS
- PUF60
- PURA
- PUS3
- PUS7
- PWAR1
- PWRN1
- PYCR1
- PYCR2
- PYGL
- PYGM
- PYROXD1
Nom du gène
- RAB11B
- RAB23
- RAB27A
- RAB3GAP1
- RAB3GAP2
- RABL3
- RAC1
- RAC2
- RAC3
- RACGAP1
- RAD21
- RAD50
- RAD51
- RAD51C
- RAD51D
- RAD54B
- RAF1
- RAG1
- RAG2
- RAI1
- RALGAPA1
- RANBP2
- RAPSN
- RARA
- RARB
- RARS1
- RARS2
- RASA2
- RASGRP1
- RB1
- RBCK1
- RBM10
- RBPJ
- RECQL4
- REEP1
- REL
- RELA
- RELN
- REPS1
- RERE
- REST
- RET
- RETREG1
- REV3L
- RFC2
- RFT1
- RFWD3
- RFX5
- RFX6
- RFXANK
- RFXAP
- RHAG
- RHBDF2
- RHCE
- RHD
- RIC1
- RILPL1
- RIN2
- RINT1
- RIPK1
- RIPK4
- RIPPLY2
- RIT1
- RLIM
- RMND1
- RMRP
- RNASEH1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF113A
- RNF125
- RNF13
- RNF168
- RNF170
- RNF2
- RNF43
- RNF6
- RNU12
- RNU4ATAC
- RNU7-1
- ROR2
- RORA
- RPGR
- RPGRIP1
- RPGRIP1L
- RPL10
- RPL11
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL5
- RPS10
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS6KA3
- RPS7
- RPSA
- RRAS
- RRAS2
- RREB1
- RRM2B
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- RSPO2
- RTEL1
- RTL1
- RTN2
- RTTN
- RUNX1
- RYR1
Nom du gène
- SAA1
- SACS
- SALL1
- SALL4
- SAMD9
- SAMD9L
- SAMHD1
- SAR1B
- SARS2
- SASH3
- SATB1
- SATB2
- SBDS
- SC5D
- SCAPER
- SCARB2
- SCN10A
- SCN11A
- SCN1A
- SCN1B
- SCN2A
- SCN3A
- SCN4A
- SCN5A
- SCN8A
- SCN9A
- SCNN1A
- SCNN1B
- SCNN1G
- SCO1
- SCO2
- SCUBE3
- SCYL1
- SCYL2
- SDCCAG8
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHC
- SDHD
- SEC23A
- SEC23B
- SEC24C
- SEC31A
- SEC63
- SELENON
- SEMA3C
- SEMA3D
- SEMA3E
- SEMA4A
- SEMA4D
- SEMA5A
- SEMA7A
- SEPSECS
- SERAC1
- SERPINA1
- SERPINE1
- SERPING1
- SERPINH1
- SET
- SETBP1
- SETD1A
- SETD2
- SETD5
- SETX
- SF3B1
- SF3B4
- SFTPA1
- SFTPA2
- SFTPC
- SGSH
- SH2B1
- SH2B3
- SH2D1A
- SH3BP2
- SH3KBP1
- SH3PXD2B
- SHANK3
- SHH
- SHOC2
- SHPK
- SHQ1
- SI
- SIAH1
- SIGMAR1
- SIK1
- SIK3
- SIM1
- SIN3A
- SIX1
- SIX3
- SIX6
- SKI
- SKIC2
- SKIC3
- SLC10A1
- SLC10A2
- SLC10A7
- SLC11A1
- SLC11A2
- SLC12A1
- SLC12A2
- SLC12A3
- SLC12A6
- SLC13A5
- SLC16A1
- SLC16A2
- SLC17A5
- SLC18A3
- SLC19A2
- SLC19A3
- SLC1A2
- SLC1A3
- SLC1A4
- SLC20A2
- SLC22A12
- SLC22A5
- SLC25A1
- SLC25A11
- SLC25A12
- SLC25A13
- SLC25A15
- SLC25A19
- SLC25A20
- SLC25A22
- SLC25A24
- SLC25A26
- SLC25A4
- SLC25A46
- SLC26A2
- SLC26A3
- SLC26A4
- SLC26A9
- SLC29A3
- SLC2A1
- SLC2A10
- SLC2A2
- SLC2A3
- SLC2A9
- SLC30A10
- SLC30A9
- SLC34A2
- SLC34A3
- SLC35A2
- SLC35C1
- SLC35D1
- SLC37A4
- SLC38A3
- SLC39A4
- SLC39A8
- SLC40A1
- SLC44A1
- SLC46A1
- SLC4A1
- SLC51A
- SLC51B
- SLC52A1
- SLC52A2
- SLC52A3
- SLC5A1
- SLC5A5
- SLC5A6
- SLC5A7
- SLC6A14
- SLC6A19
- SLC6A3
- SLC6A5
- SLC6A8
- SLC6A9
- SLC7A7
- SLC9A3
- SLC9A6
- SLCO1B1
- SLCO1B3
- SLCO2A1
- SLX4
- SMAD2
- SMAD3
- SMAD4
- SMAD7
- SMARCA2
- SMARCA4
- SMARCAL1
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCD2
- SMARCE1
- SMC1A
- SMC3
- SMCHD1
- SMG9
- SMO
- SMPD1
- SNAI2
- SNAP25
- SNCA
- SNCAIP
- SNIP1
- SNORD115-1
- SNORD116-1
- SNRPB
- SNRPN
- SNX10
- SNX14
- SOCS1
- SOD1
- SON
- SOS1
- SOS2
- SOX10
- SOX11
- SOX18
- SOX2
- SOX3
- SOX4
- SOX5
- SOX6
- SOX9
- SP110
- SPAG1
- SPART
- SPATA5
- SPECC1L
- SPEF2
- SPEN
- SPG11
- SPG21
- SPG7
- SPIB
- SPINK1
- SPINK5
- SPINT2
- SPOP
- SPP1
- SPRED1
- SPRED2
- SPRTN
- SPTA1
- SPTAN1
- SPTB
- SPTBN1
- SPTBN4
- SPTLC1
- SPTLC2
- SQSTM1
- SRC
- SRCAP
- SRD5A3
- SREBF1
- SRP54
- SRPX2
- SRSF2
- SSR4
- ST3GAL5
- STAC3
- STAG1
- STAG2
- STAR
- STAT1
- STAT3
- STAT4
- STAT5B
- STAT6
- STEAP3
- STIL
- STIM1
- STK11
- STK36
- STN1
- STOX1
- STRA6
- STRADA
- STS
- STT3A
- STT3B
- STUB1
- STX11
- STX16
- STX1A
- STX3
- STXBP1
- STXBP2
- SUCLA2
- SUCLG1
- SUFU
- SUGCT
- SUMF1
- SUOX
- SUPT16H
- SURF1
- SUZ12
- SYK
- SYNE1
- SYNGAP1
- SYNJ1
- SYT1
- SYT14
- SYT2
- SZT2
Nom du gène
- TAF1
- TAF15
- TALDO1
- TANC2
- TANGO2
- TAOK1
- TAPT1
- TARDBP
- TARS1
- TARS2
- TASP1
- TBC1D20
- TBC1D23
- TBC1D24
- TBC1D7
- TBC1D8B
- TBCD
- TBCE
- TBCK
- TBK1
- TBL1X
- TBL1XR1
- TBL2
- TBX1
- TBX19
- TBX3
- TBX4
- TBXAS1
- TCF20
- TCF3
- TCF4
- TCIRG1
- TCN2
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TDGF1
- TECPR2
- TEK
- TELO2
- TENT5A
- TERC
- TERF2IP
- TERT
- TET2
- TET3
- TF
- TFAM
- TFAP2A
- TFE3
- TFG
- TFR2
- TFRC
- TG
- TGDS
- TGFB1
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TGIF1
- TGM6
- TH
- THOC2
- THOC6
- THPO
- THRA
- TICAM1
- TIMM22
- TIMM8A
- TIMMDC1
- TINF2
- TJP2
- TK2
- TKFC
- TKT
- TLK2
- TLR2
- TLR3
- TLR4
- TLR8
- TMCO1
- TMEM106B
- TMEM107
- TMEM126B
- TMEM127
- TMEM138
- TMEM165
- TMEM199
- TMEM216
- TMEM218
- TMEM231
- TMEM237
- TMEM270
- TMEM67
- TMEM70
- TMEM94
- TMPRSS15
- TMPRSS6
- TMTC3
- TNF
- TNFAIP3
- TNFRSF11A
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF1B
- TNFRSF4
- TNFSF11
- TNFSF12
- TNFSF15
- TNNI3
- TNNT2
- TNPO2
- TNPO3
- TNRC6B
- TNXB
- TOE1
- TOGARAM1
- TOM1
- TOP3A
- TOPORS
- TOR1A
- TP53
- TP53RK
- TP63
- TPI1
- TPM2
- TPM3
- TPO
- TPP2
- TPRKB
- TRAF3
- TRAF3IP1
- TRAF3IP2
- TRAF7
- TRAK1
- TRAPPC11
- TRAPPC12
- TRAPPC4
- TRAPPC6B
- TREH
- TREM2
- TREX1
- TRH
- TRHR
- TRIM28
- TRIM32
- TRIM37
- TRIM8
- TRIO
- TRIP11
- TRIP13
- TRIP4
- TRMT10C
- TRMT5
- TRMU
- TRNT1
- TRPC6
- TRPM4
- TRPV6
- TRRAP
- TSC1
- TSC2
- TSEN15
- TSEN2
- TSEN34
- TSEN54
- TSFM
- TSHB
- TSHR
- TSPOAP1
- TSPYL1
- TSR2
- TTBK2
- TTC12
- TTC21B
- TTC26
- TTC7A
- TTC8
- TTR
- TUBA1A
- TUBB
- TUBB3
- TUBB4A
- TUBB6
- TUFM
- TULP3
- TWIST1
- TWIST2
- TWNK
- TXN2
- TXNDC15
- TXNL4A
- TXNRD2
- TYMP
- TYMS
- TYR
- TYROBP
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
