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Abnormality of metabolism/homeostasis
Code Aire thérapeutique (HPO) :
HP:0001939Panel par pathologie associée :
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Code pathologie
Nom de la pathologie
- ORPHA:94063 12q14 microdeletion syndrome
- ORPHA:412035 13q12.3 microdeletion syndrome
- ORPHA:1713 17p11.2 microduplication syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:261265 17q12 microdeletion syndrome
- ORPHA:254346 19p13.12 microdeletion syndrome
- ORPHA:357001 19p13.13 microdeletion syndrome
- OMIM:616034 2,4-Dienoyl-Coa reductase deficiency
- OMIM:610006 2-Methylbutyryl-Coa dehydrogenase deficiency
- ORPHA:363659 20q11.2 microduplication syndrome
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:163693 2p21 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
- ORPHA:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- OMIM:231530 3-Hydroxyacyl-Coa dehydrogenase deficiency
- ORPHA:939 3-hydroxyisobutyric aciduria
- OMIM:236795 3-hydroxyisobutyric aciduria
- OMIM:250620 3-Hydroxyisobutyryl-Coa hydrolase deficiency
- OMIM:210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency
- OMIM:210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency
- ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency
- ORPHA:67046 3-methylglutaconic aciduria type 1
- ORPHA:67047 3-methylglutaconic aciduria type 3
- ORPHA:67048 3-methylglutaconic aciduria type 4
- ORPHA:445038 3-methylglutaconic aciduria type 7
- ORPHA:505216 3-methylglutaconic aciduria type 9
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- OMIM:614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
- OMIM:250950 3-methylglutaconic aciduria, type I
- OMIM:258501 3-methylglutaconic aciduria, type III
- OMIM:617698 3-methylglutaconic aciduria, type IX
- OMIM:619835 3-methylglutaconic aciduria, type VIIA, autosomal dominant
- 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:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- OMIM:260005 5-@oxoprolinase deficiency
- ORPHA:96092 8p inverted duplication/deletion syndrome
- ORPHA:401923 9q31.1q31.3 microdeletion syndrome
Code pathologie
Nom de la pathologie
- ORPHA:85445 AA amyloidosis
- ORPHA:439232 AApoAIV amyloidosis
- OMIM:100050 Aarskog syndrome, autosomal dominant
- OMIM:615812 Abdominal obesity-metabolic syndrome 3
- OMIM:618620 Abdominal obesity-metabolic syndrome 4
- ORPHA:100006 ABeta amyloidosis, Dutch type
- OMIM:200100 ABETALIPOPROTEINEMIA
- ORPHA:14 Abetalipoproteinemia
- OMIM:261990 Abnormal hair, joint laxity, and developmental delay
- ORPHA:980 Absence of the pulmonary artery
- OMIM:200170 Acanthosis nigricans with muscle cramps and acral enlargement
- ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
- ORPHA:926 Acatalasemia
- OMIM:614097 Acatalasemia
- OMIM:604290 ACERULOPLASMINEMIA
- ORPHA:48818 Aceruloplasminemia
- OMIM:614055 Acetyl-Coa acetyltransferase-2 deficiency
- OMIM:243400 Acetylation, slow
- ORPHA:932 Achondrogenesis
- ORPHA:93299 Achondrogenesis type 1A
- ORPHA:93298 Achondrogenesis type 1B
- ORPHA:93296 Achondrogenesis type 2
- OMIM:200600 Achondrogenesis, type IA
- OMIM:600972 Achondrogenesis, type IB
- OMIM:200610 Achondrogenesis, type II
- OMIM:200900 Achondroplasia, so-called, and severe combined immunodeficiency
- OMIM:615961 Acid-labile subunit, deficiency of
- ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage
- OMIM:300909 Acquired angioedema
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- ORPHA:464453 Acquired methemoglobinemia
- ORPHA:79087 Acquired partial lipodystrophy
- ORPHA:49566 Acquired purpura fulminans
- ORPHA:99147 Acquired von Willebrand syndrome
- ORPHA:281127 Acral self-healing collodion baby
- OMIM:201100 Acrodermatitis enteropathica, Zinc-Deficiency type
- OMIM:101800 Acrodysostosis 1, with or without hormone resistance
- OMIM:614613 Acrodysostosis 2 with or without hormone resistance
- ORPHA:280651 Acrodysostosis with multiple hormone resistance
- ORPHA:963 Acromegaly
- OMIM:201400 Acth deficiency, isolated
- OMIM:615954 ACTH-independent macronodular adrenal hyperplasia 2
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:529799 Acute bilirubin encephalopathy
- ORPHA:83597 Acute disseminated encephalomyelitis
- ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion
- ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy
- ORPHA:79276 Acute intermittent porphyria
- ORPHA:79126 Acute interstitial pneumonia
- ORPHA:90062 Acute liver failure
- ORPHA:178320 Acute lung injury
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:90064 Acute peripheral arterial occlusion
- 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:100008 ACys amyloidosis
- ORPHA:55881 Adamantinoma
- ORPHA:85138 Addison disease
- ORPHA:976 Adenine phosphoribosyltransferase deficiency
- OMIM:614723 Adenine phosphoribosyltransferase deficiency
- ORPHA:95512 Adenohypophysitis
- ORPHA:45 Adenosine monophosphate deaminase deficiency
- OMIM:202010 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
- OMIM:202110 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
- OMIM:300200 Adrenal hypoplasia, congenital
- OMIM:613743 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
- ORPHA:1501 Adrenocortical carcinoma
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- OMIM:103230 Adrenocortical hypofunction, chronic primary congenital
- OMIM:300100 Adrenoleukodystrophy
- ORPHA:139399 Adrenomyeloneuropathy
- ORPHA:70578 Adult acute respiratory distress syndrome
- ORPHA:2688 Adult idiopathic neutropenia
- ORPHA:206448 Adult Krabbe disease
- ORPHA:79262 Adult neuronal ceroid lipofuscinosis
- ORPHA:99027 Adult-onset autosomal dominant leukodystrophy
- ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia
- ORPHA:329478 Adult-onset distal myopathy due to VCP mutation
- ORPHA:199351 Adult-onset dystonia-parkinsonism
- ORPHA:171442 Adult-onset nemaline myopathy
- ORPHA:829 Adult-onset Still disease
- ORPHA:139507 African iron overload
- ORPHA:3385 African trypanosomiasis
- OMIM:601495 Agammaglobulinemia 1, autosomal recessive
- OMIM:619707 Agammaglobulinemia 10, autosomal dominant
- OMIM:613500 Agammaglobulinemia 2, autosomal recessive
- OMIM:613501 Agammaglobulinemia 3, autosomal recessive
- OMIM:613502 Agammaglobulinemia 4, autosomal recessive
- OMIM:613506 Agammaglobulinemia 5, autosomal dominant
- OMIM:612692 Agammaglobulinemia 6, autosomal recessive
- OMIM:615214 Agammaglobulinemia 7, autosomal recessive
- OMIM:616941 Agammaglobulinemia 8, autosomal dominant
- OMIM:619824 Agammaglobulinemia 8B, autosomal recessive
- OMIM:619693 Agammaglobulinemia 9, autosomal recessive
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:85448 AGel amyloidosis
- OMIM:613623 Agenesis of the corpus callosum and congenital lymphedema
- ORPHA:98850 Aggressive systemic mastocytosis
- OMIM:608688 Aicar transformylase/imp cyclohydrolase deficiency
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:610329 Aicardi-Goutieres syndrome 3
- OMIM:610333 Aicardi-Goutieres syndrome 4
- OMIM:615010 Aicardi-Goutieres syndrome 6
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619487 Aicardi-Goutieres syndrome 9
- ORPHA:79085 AKT2-related familial partial lipodystrophy
- ORPHA:85443 AL amyloidosis
- OMIM:607131 Al-Gazali-Bakalinova syndrome
- ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
- OMIM:118450 Alagille syndrome 1
- OMIM:300600 Aland island eye disease
- OMIM:202900 Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
- ORPHA:53 Albers-Schönberg osteopetrosis
- OMIM:610251 Alcohol sensitivity, acute
- ORPHA:58 Alexander disease
- 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:56 Alkaptonuria
- OMIM:203500 Alkaptonuria
- OMIM:617822 Alkuraya-Kucinskas syndrome
- ORPHA:1164 Allergic bronchopulmonary aspergillosis
- ORPHA:93925 Alobar holoprosencephaly
- ORPHA:1006 Alopecia antibody deficiency
- OMIM:613490 Alpha-1-Antitrypsin deficiency
- OMIM:203760 Alpha-2-deficient collagen disease
- OMIM:204750 Alpha-aminoadipic and alpha-ketoadipic aciduria
- ORPHA:399058 Alpha-B crystallin-related late-onset myopathy
- ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- OMIM:615969 Alpha-Fetoprotein deficiency
- OMIM:615970 Alpha-Fetoprotein, hereditary persistence of
- ORPHA:100025 Alpha-heavy chain disease
- OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency
- 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:79280 Alpha-N-acetylgalactosaminidase deficiency type 2
- ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
- ORPHA:846 Alpha-thalassemia
- ORPHA:63 Alport syndrome
- OMIM:203780 Alport syndrome 2, autosomal recessive
- OMIM:104200 Alport syndrome 3, autosomal dominant
- OMIM:301050 Alport syndrome, X-linked
- ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- ORPHA:2131 Alternating hemiplegia of childhood
- OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- ORPHA:284 Alveolar echinococcosis
- OMIM:104300 Alzheimer disease
- OMIM:606889 Alzheimer disease 4
- ORPHA:3386 American trypanosomiasis
- OMIM:204730 Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis
- ORPHA:99742 Amish lethal microcephaly
- OMIM:300194 AMME complex
- OMIM:204800 AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF
- ORPHA:67 Amoebiasis due to Entamoeba histolytica
- ORPHA:68 Amoebiasis due to free-living amoebae
- ORPHA:67043 Amoebic keratitis
- OMIM:204850 Amyloidosis of gingiva and conjunctiva, with mental retardation
- OMIM:105150 Amyloidosis VI
- OMIM:204900 Amyloidosis, cutaneous bullous
- OMIM:105200 Amyloidosis, familial visceral
- OMIM:105120 Amyloidosis, Finnish type
- OMIM:105210 Amyloidosis, hereditary, transthyretin-related
- OMIM:105250 Amyloidosis, primary localized cutaneous, 1
- OMIM:613955 Amyloidosis, primary localized cutaneous, 2
- OMIM:615426 Amyotrophic lateral sclerosis 20
- OMIM:606070 Amyotrophic lateral sclerosis 21
- OMIM:616000 Analbuminemia
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- OMIM:205700 Anemia, autoimmune hemolytic
- OMIM:224120 Anemia, congenital dyserythropoietic, type Ia
- 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:206300 Anemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane
- OMIM:206400 Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism
- OMIM:205950 Anemia, sideroblastic, 2, pyridoxine-refractory
- OMIM:616860 Anemia, sideroblastic, 3, pyridoxine-refractory
- OMIM:301310 Anemia, sideroblastic, and spinocerebellar ataxia
- ORPHA:1054 Aneurysm of sinus of Valsalva
- ORPHA:411511 Angelman syndrome due to a point mutation
- 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:619360 Angioedema, hereditary, 4
- OMIM:619361 Angioedema, hereditary, 5
- OMIM:619363 Angioedema, hereditary, 6
- OMIM:619366 Angioedema, hereditary, 7
- OMIM:619367 Angioedema, hereditary, 8
- OMIM:106070 Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:75508 Angioosteohypotrophic syndrome
- OMIM:611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
- ORPHA:74 Angiostrongyliasis
- OMIM:106190 Anhidrosis, isolated, with normal sweat glands
- OMIM:106210 Aniridia
- ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12
- ORPHA:51890 Anterior cutaneous nerve entrapment syndrome
- ORPHA:375 Anti-glomerular basement membrane disease
- ORPHA:81 Antisynthetase syndrome
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- ORPHA:2299 Aortic arch interruption
- OMIM:207731 Aplasia cutis congenita with intestinal lymphangiectasia
- ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- OMIM:207720 Apnea, central sleep
- ORPHA:425 Apolipoprotein A-I deficiency
- OMIM:207750 Apolipoprotein C-II deficiency
- OMIM:218030 Apparent mineralocorticoid excess
- ORPHA:320 Apparent mineralocorticoid excess
- ORPHA:498359 Aquagenic palmoplantar keratoderma
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:1133 AREDYLD syndrome
- ORPHA:101096 Aregenerative anemia
- OMIM:207800 Argininemia
- ORPHA:90 Argininemia
- OMIM:207900 Argininosuccinic aciduria
- ORPHA:23 Argininosuccinic aciduria
- OMIM:243910 Arima syndrome
- ORPHA:91 Aromatase deficiency
- OMIM:608643 Aromatic L-amino acid decarboxylase deficiency
- OMIM:610193 Arrhythmogenic right ventricular dysplasia, familial, 10
- OMIM:208000 Arterial calcification, generalized, of infancy, 1
- OMIM:614473 Arterial calcification, generalized, of infancy, 2
- OMIM:108050 Arteritis, familial granulomatous, with juvenile polyarthritis
- OMIM:601701 Arthrogryposis and ectodermal dysplasia
- OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type
- OMIM:208155 Arthrogryposis multiplex congenita with whistling face
- OMIM:187370 Arthrogryposis, distal, type 10
- OMIM:619110 Arthrogryposis, distal, type 1C
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:617146 Arthrogryposis, distal, with impaired proprioception and touch
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- OMIM:208230 Arthropathy, progressive pseudorheumatoid, of childhood
- ORPHA:2302 Asbestos intoxication
- ORPHA:1253 Ascher syndrome
- ORPHA:93 Aspartylglucosaminuria
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:1163 Aspergillosis
- OMIM:208600 Asthma, short stature, and elevated iga
- OMIM:277460 Ataxia with isolated vitamin E deficiency
- ORPHA:96 Ataxia with vitamin E deficiency
- OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
- OMIM:208920 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- OMIM:615217 Ataxia-Oculomotor apraxia 3
- ORPHA:2585 Ataxia-pancytopenia syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- OMIM:604391 Ataxia-telangiectasia-like disorder 1
- OMIM:108725 Atherosclerosis susceptibility
- OMIM:209010 Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease
- ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- OMIM:209300 ATRANSFERRINEMIA
- ORPHA:99106 Atrial septal defect, ostium primum type
- ORPHA:99103 Atrial septal defect, ostium secundum type
- OMIM:615745 Atrial standstill 2
- ORPHA:85451 ATTRV122I amyloidosis
- ORPHA:2134 Atypical hemolytic uremic syndrome
- ORPHA:79474 Atypical Werner syndrome
- ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- OMIM:608049 Autism, susceptibility to, 3
- 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:90033 Autoimmune hemolytic anemia, warm type
- ORPHA:2137 Autoimmune hepatitis
- ORPHA:36913 Autoimmune hypoparathyroidism
- OMIM:616414 Autoimmune interstitial lung, joint, and kidney disease
- OMIM:601859 Autoimmune lymphoproliferative syndrome
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:603909 Autoimmune lymphoproliferative syndrome, type IIA
- OMIM:607271 Autoimmune lymphoproliferative syndrome, type IIB
- OMIM:615559 Autoimmune lymphoproliferative syndrome, type III
- OMIM:616100 Autoimmune lymphoproliferative syndrome, type V
- OMIM:269200 Autoimmune polyendocrine syndrome, type II
- OMIM:240300 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
- ORPHA:3453 Autoimmune polyendocrinopathy type 1
- ORPHA:3143 Autoimmune polyendocrinopathy type 2
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- ORPHA:747 Autoimmune pulmonary alveolar proteinosis
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:618852 Autoinflammation with episodic fever and lymphadenopathy
- OMIM:616050 Autoinflammation with infantile enterocolitis
- OMIM:614878 Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
- OMIM:617099 Autoinflammation, panniculitis, and dermatosis syndrome
- OMIM:301081 Autoinflammatory disease, systemic, X-linked
- OMIM:616744 Autoinflammatory syndrome, familial, Behcet-like
- 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:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E
- ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia
- ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency
- ORPHA:428 Autosomal dominant hypocalcemia
- ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia
- ORPHA:89937 Autosomal dominant hypophosphatemic rickets
- ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome
- ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A
- ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:1215 Autosomal dominant optic atrophy plus syndrome
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- ORPHA:730 Autosomal dominant polycystic kidney disease
- ORPHA:1300 Autosomal dominant popliteal pterygium syndrome
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:486 Autosomal dominant severe congenital neutropenia
- ORPHA:101009 Autosomal dominant spastic paraplegia type 29
- ORPHA:79278 Autosomal erythropoietic protoporphyria
- ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency
- ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency
- ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity
- ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3
- 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:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets
- ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita
- ORPHA:93329 Autosomal recessive omodysplasia
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:2822 Autosomal recessive spastic paraplegia type 11
- ORPHA:100996 Autosomal recessive spastic paraplegia type 15
- ORPHA:306511 Autosomal recessive spastic paraplegia type 48
- ORPHA:468661 Autosomal recessive spastic paraplegia type 74
- ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:454836 Avian influenza
- OMIM:109130 Axial osteomalacia
- ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
- 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:183713 Bacterial susceptibility due to TLR signaling pathway deficiency
- ORPHA:36234 Bacterial toxic-shock syndrome
- OMIM:251290 Band-Like calcification with simplified gyration and polymicrogyria
- ORPHA:1227 Bangstad syndrome
- OMIM:210740 Bangstad syndrome
- OMIM:153480 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome
- OMIM:209900 Bardet-Biedl syndrome 1
- OMIM:615981 Bardet-Biedl syndrome 2
- OMIM:619471 Bardet-Biedl syndrome 20
- OMIM:617406 Bardet-Biedl syndrome 21
- OMIM:605231 Bardet-Biedl syndrome 6
- OMIM:615986 Bardet-Biedl syndrome 9
- OMIM:209920 Bare lymphocyte syndrome, type II
- OMIM:302060 Barth syndrome
- ORPHA:111 Barth syndrome
- ORPHA:112 Bartter syndrome
- ORPHA:89938 Bartter syndrome type 4
- OMIM:601678 Bartter syndrome, type 1, antenatal
- OMIM:241200 Bartter syndrome, type 2
- OMIM:607364 Bartter syndrome, type 3
- OMIM:602522 Bartter syndrome, type 4A, neonatal, with sensorineural deafness
- OMIM:613090 Bartter syndrome, type 4B, neonatal, with sensorineural deafness
- OMIM:300971 Bartter syndrome, type 5, antenatal, transient
- OMIM:213600 Basal ganglia calcification, idiopathic, 1
- OMIM:114100 Basal ganglia calcification, idiopathic, childhood-onset
- OMIM:301032 Basilicata-Akhtar syndrome
- ORPHA:166113 Bazex syndrome
- ORPHA:98895 Becker muscular dystrophy
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:117 Behçet disease
- OMIM:109650 Behcet syndrome
- ORPHA:65682 Benign recurrent intrahepatic cholestasis
- ORPHA:274 Bernard-Soulier syndrome
- OMIM:210100 Beta-aminoisobutyric acid, urinary excretion of
- ORPHA:134 Beta-ketothiolase deficiency
- ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- ORPHA:848 Beta-thalassemia
- ORPHA:231222 Beta-thalassemia intermedia
- ORPHA:231214 Beta-thalassemia major
- OMIM:613161 Beta-ureidopropionase deficiency
- ORPHA:610 Bethlem myopathy
- OMIM:158810 Bethlem myopathy 1
- OMIM:616471 Bethlem myopathy 2
- ORPHA:79138 Bickerstaff brainstem encephalitis
- ORPHA:41751 Bietti crystalline dystrophy
- 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:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:79241 Biotinidase deficiency
- OMIM:253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset
- ORPHA:179 Birdshot chorioretinopathy
- OMIM:617595 Birk-Landau-Perez syndrome
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:109820 Bladder diverticulum
- ORPHA:90340 Blau syndrome
- OMIM:186580 Blau syndrome
- OMIM:614158 Bleeding disorder, platelet-type, 14
- OMIM:109900 Blepharochalasis and double lip
- OMIM:110000 Blepharochalasis, superior
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- OMIM:211000 Blue diaper syndrome
- ORPHA:94086 Blue diaper syndrome
- OMIM:617885 Body mass index quantitative trait locus 19
- OMIM:618406 Body mass index quantitative trait locus 20
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:620044 Bone marrow failure and diabetes mellitus syndrome
- OMIM:618116 Bone marrow failure syndrome 4
- OMIM:618165 Bone marrow failure syndrome 5
- ORPHA:1263 Boomerang dysplasia
- OMIM:619543 Boudin-Mortier syndrome
- ORPHA:83313 Boutonneuse fever
- OMIM:211369 Brachydactyly, type A2, with microcephaly
- OMIM:271630 Brachyolmia type 1, Toledo type
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- OMIM:618476 Brain abnormalities, neurodegeneration, and dysosteosclerosis
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- OMIM:175780 Brain small vessel disease 1 with or without ocular anomalies
- ORPHA:209905 Brain-lung-thyroid syndrome
- OMIM:614923 Branched-Chain ketoacid dehydrogenase kinase deficiency
- ORPHA:1299 Branchioskeletogenital syndrome
- OMIM:601003 Brody myopathy
- 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:614707 Brown-Vialetto-Van laere syndrome 2
- ORPHA:1304 Brucellosis
- OMIM:609220 Bruck syndrome 2
- ORPHA:131 Budd-Chiari syndrome
- ORPHA:703 Bullous pemphigoid
- ORPHA:543 Burkitt lymphoma
- ORPHA:1306 Buschke-Ollendorff syndrome
- ORPHA:132 Butyrylcholinesterase deficiency
Code pathologie
Nom de la pathologie
- ORPHA:329918 C3 glomerulopathy
- ORPHA:135 CACH syndrome
- OMIM:114000 Caffey disease
- ORPHA:1310 Caffey disease
- OMIM:114065 Calcific aortic disease with immunologic abnormalities, familial
- ORPHA:280062 Calciphylaxis
- ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1
- OMIM:126550 Calvarial doughnut lesions with bone fragility
- ORPHA:1318 Campomelia, Cumming type
- OMIM:211890 Campomelia, Cumming type
- OMIM:114200 Camptodactyly 1
- OMIM:211960 Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases
- ORPHA:1325 Camptodactyly-taurinuria syndrome
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:606631 Camurati-engelmann disease, type 2
- OMIM:271900 Canavan disease
- OMIM:114580 Candidiasis, familial chronic mucocutaneous, autosomal dominant
- OMIM:212050 Candidiasis, familial chronic mucocutaneous, autosomal recessive
- OMIM:613089 Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome
- OMIM:237300 Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to
- ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency
- OMIM:212070 Carboxypeptidase N deficiency
- ORPHA:100093 Carcinoid syndrome
- OMIM:615206 Card11 immunodeficiency
- OMIM:212080 Cardiac lipidosis, familial
- OMIM:212093 Cardiac valvular defect, developmental
- OMIM:314400 Cardiac valvular dysplasia, X-linked
- OMIM:616500 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:615279 Cardiofaciocutaneous syndrome 3
- OMIM:615280 Cardiofaciocutaneous syndrome 4
- ORPHA:97292 Cardiogenic shock
- OMIM:601494 Cardiomyopathy, dilated, 1D
- OMIM:613642 Cardiomyopathy, dilated, 1GG
- OMIM:604765 Cardiomyopathy, dilated, 1I
- OMIM:615184 Cardiomyopathy, dilated, 1II
- OMIM:606685 Cardiomyopathy, dilated, 1L
- OMIM:611615 Cardiomyopathy, dilated, 1X
- OMIM:618189 Cardiomyopathy, dilated, 2C
- OMIM:619747 Cardiomyopathy, dilated, 2F
- OMIM:302045 Cardiomyopathy, dilated, 3B
- OMIM:605676 Cardiomyopathy, dilated, with woolly hair and keratoderma
- OMIM:618052 Cardiomyopathy, familial hypertrophic 27
- OMIM:115197 Cardiomyopathy, familial hypertrophic, 4
- OMIM:619433 Cardiomyopathy, familial restrictive, 6
- ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- OMIM:212160 Carnitine deficiency, myopathic
- OMIM:212140 Carnitine deficiency, systemic primary
- ORPHA:156 Carnitine palmitoyl transferase 1A deficiency
- ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form
- 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:255110 Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
- OMIM:212138 Carnitine-acylcarnitine translocase deficiency
- ORPHA:159 Carnitine-acylcarnitine translocase deficiency
- ORPHA:1361 Carnosinase deficiency
- OMIM:212200 CARNOSINEMIA
- ORPHA:53035 Caroli disease
- OMIM:600643 Caroli disease, isolated
- ORPHA:480520 Caroli syndrome
- OMIM:115300 Carotenemia, familial
- OMIM:115430 Carpal tunnel syndrome
- ORPHA:175 Cartilage-hair hypoplasia
- ORPHA:160 Castleman disease
- OMIM:612018 Cataract, juvenile, with microcornea and glucosuria
- ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- ORPHA:3027 Caudal regression syndrome
- ORPHA:66631 CEDNIK syndrome
- OMIM:212750 Celiac disease, susceptibility to, 1
- OMIM:117000 Central core disease
- ORPHA:597 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:411527 Central retinal vein occlusion
- OMIM:212800 Cephalin lipidosis
- OMIM:212840 Cerebellar ataxia and hypogonadotropic hypogonadism
- OMIM:604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
- OMIM:224050 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
- OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- OMIM:605714 Cerebral amyloid angiopathy, APP-related
- OMIM:176500 Cerebral amyloid angiopathy, itm2b-related, 1
- 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:300352 Cerebral creatine deficiency syndrome 1
- OMIM:612736 Cerebral creatine deficiency syndrome 2
- OMIM:612718 Cerebral creatine deficiency syndrome 3
- OMIM:213900 Cerebral sclerosis similar to pelizaeus-merzbacher disease
- ORPHA:447788 Cerebral visual impairment
- ORPHA:314679 Cerebrofacioarticular syndrome
- OMIM:214150 Cerebrooculofacioskeletal syndrome 1
- OMIM:616570 Cerebrooculofacioskeletal syndrome 3
- OMIM:213700 Cerebrotendinous xanthomatosis
- ORPHA:909 Cerebrotendinous xanthomatosis
- ORPHA:169079 Cernunnos-XLF deficiency
- OMIM:256730 Ceroid lipofuscinosis, neuronal, 1
- OMIM:610127 Ceroid lipofuscinosis, neuronal, 10
- OMIM:204500 Ceroid lipofuscinosis, neuronal, 2
- OMIM:204200 Ceroid lipofuscinosis, neuronal, 3
- OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant
- OMIM:256731 Ceroid lipofuscinosis, neuronal, 5
- OMIM:601780 Ceroid lipofuscinosis, neuronal, 6
- OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
- OMIM:600143 Ceroid lipofuscinosis, neuronal, 8
- OMIM:610003 Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
- OMIM:609055 Ceroid lipofuscinosis, neuronal, 9
- OMIM:614809 Cfhr5 deficiency
- ORPHA:101082 Charcot-Marie-Tooth disease type 1B
- 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:620068 Charcot-Marie-Tooth disease, axonal, type 2II
- OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y
- OMIM:614455 Charcot-Marie-Tooth disease, dominant intermediate E
- OMIM:617882 Charcot-Marie-Tooth disease, dominant intermediate G
- OMIM:615376 Charcot-Marie-Tooth disease, recessive intermediate C
- OMIM:601455 Charcot-Marie-Tooth disease, type 4D
- OMIM:616684 Charcot-Marie-Tooth disease, type 4K
- OMIM:311070 Charcot-Marie-Tooth disease, X-linked recessive, 5
- OMIM:214800 Charge syndrome
- ORPHA:167 Chédiak-Higashi syndrome
- OMIM:118400 Cherubism
- ORPHA:324625 Chikungunya
- ORPHA:90280 Chilblain lupus
- OMIM:610448 Chilblain lupus 1
- ORPHA:171439 Childhood-onset nemaline myopathy
- ORPHA:401866 Childhood-onset spasticity with hyperglycinemia
- OMIM:613611 Choanal atresia and lymphedema
- ORPHA:70567 Cholangiocarcinoma
- ORPHA:173 Cholera
- 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: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:79506 Cholesterol-ester transfer protein deficiency
- ORPHA:75234 Cholesteryl ester storage disease
- OMIM:215050 Chondrodysplasia calcificans metaphysealis
- OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant
- OMIM:118650 Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included
- OMIM:215045 Chondrodysplasia, Blomstrand type
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- OMIM:601372 Chorea, remitting, with nystagmus and cataract
- ORPHA:2388 Choreoacanthocytosis
- OMIM:200150 CHOREOACANTHOCYTOSIS
- OMIM:215480 Choroid plexus calcification and mental retardation
- ORPHA:182 Chromomycosis
- OMIM:609625 Chromosome 10q26 deletion syndrome
- OMIM:614527 Chromosome 17q12 deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:618815 Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster
- 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:618935 Chronic granulomatous disease 5, autosomal recessive
- OMIM:306400 Chronic granulomatous disease, X-linked
- ORPHA:396 Chronic hiccup
- ORPHA:1334 Chronic mucocutaneous candidiasis
- ORPHA:521 Chronic myeloid leukemia
- ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- ORPHA:91359 Chronic pneumonitis of infancy
- OMIM:259680 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:215518 Ciliary discoordination due to random ciliary orientation
- OMIM:618781 Ciliary dyskinesia, primary, 44
- 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
- OMIM:215720 Citrulline transport defect
- 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:251383 CK syndrome
- ORPHA:168984 CLAPO syndrome
- ORPHA:79239 Classic galactosemia
- ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome
- ORPHA:391 Classic Hodgkin lymphoma
- ORPHA:394 Classic homocystinuria
- ORPHA:324604 Classic multiminicore myopathy
- ORPHA:2584 Classic mycosis fungoides
- ORPHA:79254 Classic phenylketonuria
- ORPHA:287 Classical Ehlers-Danlos syndrome
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- OMIM:119915 Cluster headache, familial
- OMIM:216360 Coach syndrome 1
- OMIM:619111 Coach syndrome 2
- ORPHA:90068 Cocaine intoxication
- ORPHA:228123 Coccidioidomycosis
- ORPHA:191 Cockayne syndrome
- OMIM:216400 Cockayne syndrome A
- ORPHA:90321 Cockayne syndrome type 1
- ORPHA:90324 Cockayne syndrome type 3
- OMIM:133540 Cockayne syndrome, type B
- OMIM:607426 Coenzyme Q10 deficiency, primary, 1
- OMIM:614651 Coenzyme Q10 deficiency, primary, 2
- OMIM:614652 Coenzyme Q10 deficiency, primary, 3
- OMIM:612016 Coenzyme Q10 deficiency, primary, 4
- OMIM:614654 Coenzyme Q10 deficiency, primary, 5
- OMIM:614650 Coenzyme Q10 deficiency, primary, 6
- OMIM:616276 Coenzyme Q10 deficiency, primary, 7
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- OMIM:619325 Coffin-Siris syndrome 12
- 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:1467 Cogan syndrome
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:31824 Colchicine poisoning
- ORPHA:56425 Cold agglutinin disease
- OMIM:615522 Cole disease
- OMIM:216700 Collagenosis, familial reactive perforating
- OMIM:120433 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
- OMIM:233650 Combined cellular and humoral immune defects with granulomas
- 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:911 Combined immunodeficiency due to ZAP70 deficiency
- ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies
- OMIM:312863 Combined immunodeficiency, X-linked
- ORPHA:436252 Combined immunodeficiency-enteropathy spectrum
- ORPHA:289504 Combined malonic and methylmalonic acidemia
- OMIM:614265 Combined malonic and methylmalonic aciduria
- 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
- 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:614947 Combined oxidative phosphorylation deficiency 15
- OMIM:615395 Combined oxidative phosphorylation deficiency 16
- OMIM:615440 Combined oxidative phosphorylation deficiency 17
- OMIM:615578 Combined oxidative phosphorylation deficiency 18
- OMIM:615595 Combined oxidative phosphorylation deficiency 19
- OMIM:610498 Combined oxidative phosphorylation deficiency 2
- OMIM:615917 Combined oxidative phosphorylation deficiency 20
- OMIM:615918 Combined oxidative phosphorylation deficiency 21
- OMIM:616045 Combined oxidative phosphorylation deficiency 22
- OMIM:616198 Combined oxidative phosphorylation deficiency 23
- OMIM:616239 Combined oxidative phosphorylation deficiency 24
- 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:617873 Combined oxidative phosphorylation deficiency 35
- OMIM:617950 Combined oxidative phosphorylation deficiency 36
- OMIM:618329 Combined oxidative phosphorylation deficiency 37
- OMIM:618378 Combined oxidative phosphorylation deficiency 38
- OMIM:618397 Combined oxidative phosphorylation deficiency 39
- OMIM:610678 Combined oxidative phosphorylation deficiency 4
- OMIM:618835 Combined oxidative phosphorylation deficiency 40
- OMIM:618838 Combined oxidative phosphorylation deficiency 41
- OMIM:618839 Combined oxidative phosphorylation deficiency 42
- OMIM:618851 Combined oxidative phosphorylation deficiency 43
- OMIM:618855 Combined oxidative phosphorylation deficiency 44
- OMIM:618951 Combined oxidative phosphorylation deficiency 45
- OMIM:618958 Combined oxidative phosphorylation deficiency 47
- OMIM:619012 Combined oxidative phosphorylation deficiency 48
- OMIM:619024 Combined oxidative phosphorylation deficiency 49
- 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:300816 Combined oxidative phosphorylation deficiency 6
- 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:613779 Complement component 3 deficiency, autosomal recessive
- OMIM:609814 Complement factor H deficiency
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:83452 Complex regional pain syndrome
- OMIM:304030 Cone dystrophy, X-linked, with tapetal-like sheen
- OMIM:618970 Cone-rod synaptic disorder syndrome, congenital nonprogressive
- ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- ORPHA:79 Congenital alpha2-antiplasmin deficiency
- ORPHA:86816 Congenital analbuminemia
- 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:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- OMIM:614482 Congenital cataracts, hearing loss, and neurodegeneration
- ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome
- OMIM:615273 Congenital disorder of deglycosylation 1
- 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:212067 Congenital disorder of glycosylation, type I/IIx
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:602579 Congenital disorder of glycosylation, type Ib
- OMIM:603147 Congenital disorder of glycosylation, type Ic
- 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:607143 Congenital disorder of glycosylation, type Ig
- OMIM:608104 Congenital disorder of glycosylation, type Ih
- OMIM:607906 Congenital disorder of glycosylation, type Ii
- OMIM:212066 Congenital disorder of glycosylation, type IIa
- OMIM:606056 Congenital disorder of glycosylation, type IIB
- OMIM:266265 Congenital disorder of glycosylation, type IIc
- OMIM:607091 Congenital disorder of glycosylation, type IID
- OMIM:608779 Congenital disorder of glycosylation, type IIe
- OMIM:603585 Congenital disorder of glycosylation, type IIf
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM:611182 Congenital disorder of glycosylation, type IIh
- OMIM:613612 Congenital disorder of glycosylation, type IIi
- 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:617395 Congenital disorder of glycosylation, type IIq
- 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:608540 Congenital disorder of glycosylation, type Ik
- OMIM:608776 Congenital disorder of glycosylation, type Il
- OMIM:610768 Congenital disorder of glycosylation, type Im
- OMIM:612015 Congenital disorder of glycosylation, type IN
- OMIM:613661 Congenital disorder of glycosylation, type Ip
- OMIM:612379 Congenital disorder of glycosylation, type IQ
- OMIM:614507 Congenital disorder of glycosylation, type IR
- OMIM:614921 Congenital disorder of glycosylation, type It
- OMIM:615042 Congenital disorder of glycosylation, type Iu
- OMIM: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:325 Congenital factor II deficiency
- ORPHA:326 Congenital factor V deficiency
- ORPHA:328 Congenital factor X deficiency
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:528 Congenital generalized lipodystrophy
- ORPHA:99095 Congenital Gerbode defect
- OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ORPHA:293603 Congenital hereditary endothelial dystrophy type II
- 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:199296 Congenital isolated ACTH deficiency
- 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
- ORPHA:93109 Congenital megacalycosis
- ORPHA:566 Congenital microcoria
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement
- ORPHA:370968 Congenital muscular dystrophy with intellectual disability
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:370980 Congenital muscular dystrophy without intellectual disability
- ORPHA:75840 Congenital muscular dystrophy, Ullrich type
- ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect
- ORPHA:424107 Congenital myopathy with myasthenic-like onset
- ORPHA:839 Congenital nephrotic syndrome, Finnish type
- ORPHA:168486 Congenital neuronal ceroid lipofuscinosis
- ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency
- ORPHA:617 Congenital primary megaureter
- ORPHA:91411 Congenital ptosis
- ORPHA:2414 Congenital pulmonary lymphangiectasia
- ORPHA:290 Congenital rubella syndrome
- OMIM:615237 Congenital short bowel syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:92050 Congenital tufting enteropathy
- ORPHA:216694 Congenitally corrected transposition of the great arteries
- ORPHA:860 Congenitally uncorrected transposition of the great arteries
- ORPHA:420794 Cono-spondylar dysplasia
- OMIM:217095 Conotruncal heart malformations
- OMIM:217150 Contractures, congenital, torticollis, and malignant hyperthermia
- OMIM:121270 Copper deficiency, familial benign
- OMIM:121300 Coproporphyria
- OMIM:136800 Corneal dystrophy, fuchs endothelial, 1
- OMIM:610158 Corneal dystrophy, fuchs endothelial, 2
- OMIM:613267 Corneal dystrophy, fuchs endothelial, 3
- OMIM:613270 Corneal dystrophy, fuchs endothelial, 6
- OMIM:608470 Corneal dystrophy, Reis-Bucklers type
- ORPHA:199 Cornelia de Lange syndrome
- OMIM:122470 Cornelia de Lange syndrome 1
- ORPHA:2041 Coronary arterial fistula
- OMIM:610947 Coronary artery disease, autosomal dominant 2
- OMIM:608320 Coronary artery disease, autosomal dominant, 1
- OMIM:616819 Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
- OMIM:611489 Corticosteroid-binding globulin deficiency
- ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome
- OMIM:203400 Corticosterone methyloxidase type I deficiency
- OMIM:614662 Cortisone reductase deficiency 2
- OMIM:218040 Costello syndrome
- OMIM:310490 Cowchock syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:218050 Cramps, familial adolescent
- OMIM:218200 Cranial nerves, recurrent paresis of
- ORPHA:1525 Cranio-osteoarthropathy
- OMIM:122860 Craniodiaphyseal dysplasia, autosomal dominant
- OMIM:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- ORPHA:363705 Craniofaciofrontodigital syndrome
- OMIM:300712 Craniofacioskeletal syndrome
- OMIM:269300 Craniometadiaphyseal dysplasia
- ORPHA:54595 Craniopharyngioma
- OMIM:123320 Creatine phosphokinase, elevated serum
- 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:2930 Cronkhite-Canada syndrome
- OMIM:123540 Cryofibrinogenemia, familial primary
- OMIM:123550 Cryoglobulinemia, familial mixed
- ORPHA:91138 Cryoglobulinemic vasculitis
- ORPHA:1546 Cryptococcosis
- ORPHA:1302 Cryptogenic organizing pneumonia
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia
- ORPHA:280779 Cutaneous collagenous vasculopathy
- ORPHA:79455 Cutaneous mastocytoma
- ORPHA:889 Cutaneous small vessel vasculitis
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- OMIM:219200 Cutis laxa, autosomal recessive, type IIA
- OMIM:162800 Cyclic neutropenia
- ORPHA:2686 Cyclic neutropenia
- ORPHA:212 Cystathioninuria
- OMIM:219500 CYSTATHIONINURIA
- OMIM:219550 Cysteine peptiduria
- 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
- ORPHA:1560 Cysticercosis
- ORPHA:213 Cystinosis
- OMIM:219750 Cystinosis, adult nonnephropathic
- OMIM:219900 Cystinosis, late-onset juvenile or adolescent nephropathic
- OMIM:219800 Cystinosis, nephropathic
- ORPHA:214 Cystinuria
- OMIM:220100 Cystinuria
Code pathologie
Nom de la pathologie
- OMIM:600721 D-2-Hydroxyglutaric aciduria 1
- OMIM:613657 D-2-hydroxyglutaric aciduria 2
- OMIM:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:941 D-glyceric aciduria
- ORPHA:1563 Dahlberg-Borer-Newcomer syndrome
- OMIM:300257 Danon disease
- ORPHA:300536 DDOST-CDG
- OMIM:278800 De Sanctis-Cacchione syndrome
- OMIM:221200 Deafness and myopia
- OMIM:617772 Deafness, autosomal dominant 34, with or without inflammation
- OMIM:619196 Deafness, congenital, and adult-onset progressive leukoencephalopathy
- OMIM:221400 Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy
- OMIM:221700 Deafness, neural, with atypical atopic dermatitis
- OMIM:612097 Deafness, unilateral, with delayed endolymphatic hydrops
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:90646 Deafness-hypogonadism syndrome
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- OMIM:619004 Deeah syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:619488 DEGCAGS syndrome
- ORPHA:3202 Dehydrated hereditary stomatocytosis
- OMIM:194380 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
- OMIM:616689 Dehydrated hereditary stomatocytosis 2
- OMIM:117300 Dementia, familial danish
- ORPHA:79134 DEND syndrome
- ORPHA:99828 Dengue fever
- ORPHA:1652 Dent disease
- OMIM:300009 Dent disease 1
- OMIM:300555 Dent disease 2
- ORPHA:220 Denys-Drash syndrome
- OMIM:125460 Deoxyribose-5-Phosphate aldolase deficiency
- ORPHA:1656 Dermatitis herpetiformis
- OMIM:603165 Dermatitis, atopic
- OMIM:221790 DERMATOLEUKODYSTROPHY
- ORPHA:221 Dermatomyositis
- OMIM:221810 Dermatoosteolysis, Kirghizian type
- ORPHA:1657 Dermatoosteolysis, Kirghizian type
- ORPHA:99688 Dermotrichic syndrome
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:619340 Developmental and epileptic encephalopathy 96
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:520000 Diabetes and deafness, maternally inherited
- OMIM:125800 Diabetes insipidus, nephrogenic, 2
- OMIM:304800 Diabetes insipidus, nephrogenic, X-linked
- OMIM:304900 Diabetes insipidus, Neurohypophyseal type
- OMIM:601942 Diabetes mellitus, insulin-dependent, 10
- OMIM:601666 Diabetes mellitus, insulin-dependent, 15
- OMIM:125852 Diabetes mellitus, insulin-dependent, 2
- OMIM:612520 Diabetes mellitus, insulin-dependent, 20
- OMIM:601941 Diabetes mellitus, insulin-dependent, 6
- OMIM:222100 Diabetes mellitus, insulin-dependent-1
- OMIM:612227 Diabetes mellitus, ketosis-prone
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- OMIM:125853 Diabetes mellitus, noninsulin-dependent
- OMIM:606176 Diabetes mellitus, permanent neonatal 1
- OMIM:618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features
- OMIM:618858 Diabetes mellitus, permanent neonatal 4
- OMIM:610374 Diabetes mellitus, transient neonatal 2
- OMIM:601410 Diabetes mellitus, transient neonatal, 1
- OMIM:610582 Diabetes mellitus, transient neonatal, 3
- OMIM:618856 Diabetes, permanent neonatal 2, with or without neurologic features
- OMIM:222350 DIAMINOPENTANURIA
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:615550 Diamond-Blackfan anemia 12
- OMIM:615909 Diamond-Blackfan anemia 13
- OMIM:300946 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
- OMIM:610629 Diamond-Blackfan anemia 3
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:613308 Diamond-Blackfan anemia 9
- OMIM:608022 Diaphanospondylodysostosis
- OMIM:214700 Diarrhea 1, secretory chloride, congenital
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- 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:614616 Diarrhea 6
- OMIM:615863 Diarrhea 7, protein-losing Enteropathy type
- OMIM:616868 Diarrhea 8, secretory sodium, congenital
- OMIM:222690 Dibasic amino aciduria I
- OMIM:222730 Dicarboxylicamino aciduria
- ORPHA:90060 Diffuse alveolar hemorrhage
- ORPHA:79456 Diffuse cutaneous mastocytosis
- ORPHA:2123 Diffuse neonatal hemangiomatosis
- OMIM:188400 Digeorge syndrome
- ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy
- OMIM:246900 Dihydrolipoamide dehydrogenase deficiency
- ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency
- OMIM:274270 Dihydropyrimidine dehydrogenase deficiency
- OMIM:222748 Dihydropyrimidinuria
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- OMIM:605850 Dimethylglycine dehydrogenase deficiency
- ORPHA:243343 Dimethylglycine dehydrogenase deficiency
- ORPHA:79168 Disorder of bile acid synthesis
- ORPHA:345 Dissecting cellulitis of the scalp
- ORPHA:261222 Distal 16p11.2 microdeletion syndrome
- ORPHA:261337 Distal 22q11.2 microduplication syndrome
- ORPHA:399096 Distal anoctaminopathy
- ORPHA:1307 Distal limb deficiencies-micrognathia syndrome
- ORPHA:96149 Distal monosomy 12q
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:178400 Distal myopathy with anterior tibial onset
- ORPHA:488650 Distal myopathy, Tateyama type
- ORPHA:603 Distal myopathy, Welander type
- ORPHA:98911 Distal myotilinopathy
- ORPHA:18 Distal renal tubular acidosis
- OMIM:602722 Distal renal tubular acidosis 3, with or without sensorineural hearing loss
- ORPHA:1705 Distal trisomy 14q
- ORPHA:1745 Distal trisomy 6p
- ORPHA:293939 Distal Xq28 microduplication syndrome
- OMIM:126320 Distichiasis with congenital anomalies of the heart and peripheral
- ORPHA:91131 DK1-CDG
- ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome
- ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- OMIM:223350 Dohle bodies and leukemia
- ORPHA:231226 Dominant beta-thalassemia
- OMIM:222448 Donnai-Barrow syndrome
- ORPHA:2143 Donnai-Barrow syndrome
- OMIM:246200 Donohue syndrome
- OMIM:220500 Doors syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:255 Dopa-responsive dystonia
- ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3426 Double outlet right ventricle
- ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome
- ORPHA:79145 Dowling-Degos disease
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:263494 DPM3-CDG
- ORPHA:231 Dracunculiasis
- OMIM:618057 Drug metabolism, altered, CES1-related
- OMIM:608902 Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:90037 Drug-induced autoimmune hemolytic anemia
- ORPHA:231111 Drug-induced lupus erythematosus
- OMIM:237500 DUBIN-JOHNSON syndrome
- ORPHA:234 Dubin-Johnson syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:262 Duchenne and Becker muscular dystrophy
- OMIM:310200 Duchenne muscular dystrophy
- ORPHA:98896 Duchenne muscular dystrophy
- ORPHA:100076 Duodenal neuroendocrine tumor
- OMIM:126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION
- OMIM:126850 Duodenal ulcer, hyperpepsinogenemic I
- ORPHA:97339 Dural sinus malformation
- OMIM:223500 Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone
- OMIM:619955 Dworschak-Punetha neurodevelopmental syndrome
- ORPHA:239 Dyggve-Melchior-Clausen disease
- ORPHA:412 Dysbetalipoproteinemia
- ORPHA:1765 Dyschondrosteosis-nephritis syndrome
- ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2
- ORPHA:1775 Dyskeratosis congenita
- OMIM:615190 Dyskeratosis congenita, autosomal recessive 5
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:127820 Dysplasia epiphysealis hemimelica with chondromas and osteochondromas
- ORPHA:168621 Dysplasia of head of femur, Meyer type
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
- OMIM:128230 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
- ORPHA:412217 Dystonia-aphonia syndrome
- ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome
- ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa
Code pathologie
Nom de la pathologie
- ORPHA:40923 Eales disease
- ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes
- 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:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- ORPHA:199343 EAST syndrome
- ORPHA:319218 Ebola hemorrhagic fever
- OMIM:305100 Ectodermal dysplasia 1, hypohidrotic, X-linked
- OMIM:129490 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
- OMIM:224900 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- OMIM:300291 Ectodermal dysplasia and immunodeficiency 1
- OMIM:612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
- OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum
- OMIM:609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- OMIM:613573 Ectodermal dysplasia-syndactyly syndrome 1
- ORPHA:231632 Ectopic aldosterone-producing tumor
- OMIM:129840 Edema, familial idiopathic, prepubertal
- OMIM:129850 Edinburgh malformation syndrome
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:225410 Ehlers-Danlos syndrome, type VII, autosomal recessive
- OMIM:600002 Eiken syndrome
- ORPHA:97214 Eisenmenger syndrome
- OMIM:130600 Elliptocytosis 2
- OMIM:609029 Emanuel syndrome
- ORPHA:261 Emery-Dreifuss muscular dystrophy
- OMIM:310300 Emery-Dreifuss muscular dystrophy 1, X-linked
- OMIM:181350 Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- OMIM:616516 Emery-Dreifuss muscular dystrophy 3, autosomal recessive
- OMIM:612998 Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- OMIM:612999 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
- ORPHA:1031 Enamel-renal 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
- ORPHA:833 Encephalopathy due to sulfite oxidase deficiency
- OMIM:608033 Encephalopathy, acute, infection-induced, susceptibility to, 3
- OMIM:614212 Encephalopathy, acute, infection-induced, susceptibility to, 4
- OMIM:618426 Encephalopathy, acute, infection-induced, susceptibility to, 9
- OMIM:602473 Encephalopathy, ethylmalonic
- OMIM:617668 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
- OMIM:617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
- OMIM:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
- OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
- OMIM:618331 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
- OMIM:615924 Encephalopathy, progressive, with or without lipodystrophy
- ORPHA:2022 Endocardial fibroelastosis
- OMIM:268100 Enhanced S-cone syndrome
- ORPHA:83620 Enteric anendocrinosis
- OMIM:226200 Enterokinase deficiency
- OMIM:600351 Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
- ORPHA:3165 Eosinophilic fasciitis
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- ORPHA:35125 Epidermal nevus syndrome
- OMIM:226400 Epidermodysplasia verruciformis, susceptibility to, 1
- ORPHA:46487 Epidermolysis bullosa acquisita
- ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia
- OMIM:226730 Epidermolysis bullosa, junctional, with pyloric atresia
- OMIM:617290 Epilepsy, early-onset, vitamin b6-dependent
- OMIM:611726 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
- OMIM:254900 Epilepsy, progressive myoclonic, 4, with or without renal failure
- OMIM:614018 Epilepsy, progressive myoclonic, 6
- OMIM:266100 Epilepsy, pyridoxine-dependent
- OMIM:226850 EPILEPSY-TELANGIECTASIA
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- OMIM:300884 Epileptic encephalopathy, early infantile, 36
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:616457 Epileptic encephalopathy, early infantile, 50
- OMIM:617339 Epileptic encephalopathy, early infantile, 51
- OMIM:617389 Epileptic encephalopathy, early infantile, 53
- OMIM:618548 Epileptic encephalopathy, early infantile, 77
- OMIM:618557 Epileptic encephalopathy, early infantile, 78
- OMIM:618580 Epileptic encephalopathy, early infantile, 80
- OMIM:618721 Epileptic encephalopathy, early infantile, 82
- OMIM:618959 Epileptic encephalopathy, early infantile, 88
- OMIM:600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy
- OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
- OMIM:160120 Episodic ataxia, type 1
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:90000 Erythema elevatum diutinum
- OMIM:245340 Erythrocyte lactate transporter defect
- OMIM:615508 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
- OMIM:227090 Erythroderma, lethal congenital
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- ORPHA:2056 Essential fructosuria
- OMIM:615363 Estrogen resistance
- ORPHA:785 Estrogen resistance syndrome
- OMIM:227150 Ethanolaminosis
- ORPHA:31826 Ethylene glycol poisoning
- ORPHA:51188 Ethylmalonic encephalopathy
- ORPHA:466650 Exercise-induced malignant hyperthermia
- ORPHA:494424 Extracranial carotid artery aneurysm
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- OMIM:601552 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
- ORPHA:269 Facioscapulohumeral dystrophy
- OMIM:158900 Facioscapulohumeral muscular dystrophy 1
- ORPHA:88619 Familial acute necrotizing encephalopathy
- ORPHA:98880 Familial afibrinogenemia
- OMIM:620058 Familial apolipoprotein gene cluster deletion syndrome
- ORPHA:615 Familial atrial myxoma
- ORPHA:1551 Familial benign copper deficiency
- ORPHA:1416 Familial calcium pyrophosphate deposition
- ORPHA:36382 Familial cervical artery dissection
- ORPHA:444490 Familial chylomicronemia syndrome
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- OMIM:614468 Familial cold autoinflammatory syndrome 3
- OMIM:616115 Familial cold autoinflammatory syndrome 4
- OMIM:120100 Familial cold inflammatory syndrome 1
- ORPHA:47045 Familial cold urticaria
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:217607 Familial dilated cardiomyopathy
- ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- ORPHA:1764 Familial dysautonomia
- OMIM:174810 Familial expansile osteolysis
- ORPHA:891 Familial exudative vitreoretinopathy
- ORPHA:361 Familial glucocorticoid deficiency
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis
- ORPHA:403 Familial hyperaldosteronism type I
- ORPHA:404 Familial hyperaldosteronism type II
- ORPHA:251274 Familial hyperaldosteronism type III
- ORPHA:427 Familial hypoaldosteronism
- ORPHA:405 Familial hypocalciuric hypercalcemia
- ORPHA:1677 Familial idiopathic dilatation of the right atrium
- ORPHA:154 Familial isolated dilated cardiomyopathy
- ORPHA:99879 Familial isolated hyperparathyroidism
- ORPHA:2238 Familial isolated hypoparathyroidism
- ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
- ORPHA:75249 Familial isolated restrictive cardiomyopathy
- ORPHA:342 Familial Mediterranean fever
- OMIM:134610 Familial Mediterranean fever, AD
- OMIM:249100 Familial Mediterranean fever, AR
- ORPHA:199276 Familial multiple lipomatosis
- ORPHA:624 Familial multiple nevi flammei
- ORPHA:569 Familial or sporadic hemiplegic migraine
- ORPHA:2769 Familial osteodysplasia, Anderson type
- ORPHA:1333 Familial pancreatic carcinoma
- ORPHA:2348 Familial partial lipodystrophy, Dunnigan type
- ORPHA:79084 Familial partial lipodystrophy, Köbberling type
- ORPHA:90044 Familial pseudohyperkalemia
- ORPHA:79147 Familial reactive perforating collagenosis
- ORPHA:69076 Familial renal glucosuria
- ORPHA:95716 Familial thyroid dyshormonogenesis
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:227645 Fanconi anemia, complementation group C
- OMIM:605724 Fanconi anemia, complementation group D1
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:600901 Fanconi anemia, complementation group E
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:614082 Fanconi anemia, complementation group G
- OMIM:609053 Fanconi anemia, complementation group I
- OMIM:609054 Fanconi anemia, complementation group J
- OMIM:614083 Fanconi anemia, complementation group L
- OMIM:610832 Fanconi anemia, complementation group N
- OMIM:613390 Fanconi anemia, complementation group O
- OMIM:615272 Fanconi anemia, complementation group Q
- OMIM:617883 Fanconi anemia, complementation group S
- OMIM:617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U
- OMIM:617243 Fanconi anemia, complementation group V
- OMIM:134600 Fanconi renotubular syndrome 1
- OMIM:613388 Fanconi renotubular syndrome 2
- OMIM:615605 Fanconi renotubular syndrome 3
- OMIM:616026 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- OMIM:618913 Fanconi renotubular syndrome 5
- 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:163703 Febrile infection-related epilepsy syndrome
- OMIM:153640 Fechtner syndrome
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- OMIM:618389 Fetal akinesia deformation sequence 3
- ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia
- OMIM:613630 Fetal encasement syndrome
- ORPHA:85212 Fetal Gaucher disease
- OMIM:228355 Fetal iodine deficiency disorder
- ORPHA:295 Fetal parvovirus syndrome
- OMIM:228400 Fever, familial lifelong persistent
- OMIM:228520 Fibrochondrogenesis 1
- OMIM:135100 Fibrodysplasia ossificans progressiva
- ORPHA:84090 Fibronectin glomerulopathy
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- ORPHA:249 Fibrous dysplasia of bone
- OMIM:609524 Filaminopathy, autosomal dominant
- OMIM:305550 Fingerprint body myopathy
- ORPHA:399086 Finnish upper limb-onset distal myopathy
- OMIM:136120 Fish-Eye disease
- ORPHA:79292 Fish-eye disease
- ORPHA:293812 Fixed drug eruption
- ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9
- OMIM:228960 Flaujeac factor deficiency
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:2047 Flynn-Aird syndrome
- ORPHA:48918 Focal myositis
- OMIM:603278 Focal segmental glomerulosclerosis 1
- OMIM:256020 Focal segmental glomerulosclerosis 10
- OMIM:603965 Focal segmental glomerulosclerosis 2
- OMIM:607832 Focal segmental glomerulosclerosis 3, susceptibility to
- OMIM:614131 Focal segmental glomerulosclerosis 6
- OMIM:616002 Focal segmental glomerulosclerosis 7
- OMIM:616032 Focal segmental glomerulosclerosis 8
- OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- ORPHA:2048 Foix-Chavany-Marie syndrome
- OMIM:229050 Folate malabsorption, hereditary
- ORPHA:79097 Folinic acid-responsive seizures
- ORPHA:545 Follicular lymphoma
- ORPHA:51208 Formiminoglutamic aciduria
- OMIM:229100 Formiminotransferase deficiency
- OMIM:229120 Fountain syndrome
- ORPHA:3219 Fountain syndrome
- ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion
- OMIM:136580 Fragile site 16q22
- OMIM:617667 Fraser syndrome 3
- OMIM:136680 Frasier syndrome
- ORPHA:347 Frasier syndrome
- ORPHA:100974 FRAXF syndrome
- ORPHA:834 Free sialic acid storage disease
- ORPHA:2053 Freeman-Sheldon syndrome
- OMIM:613954 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
- ORPHA:275872 Frontotemporal dementia with motor neuron disease
- OMIM:229500 Fructose and galactose intolerance
- OMIM:229600 Fructose intolerance, hereditary
- OMIM:229700 Fructose-1,6-Bisphosphatase deficiency
- ORPHA:348 Fructose-1,6-bisphosphatase deficiency
- OMIM:229800 Fructosuria, essential
- OMIM:229850 Fryns syndrome
- ORPHA:98974 Fuchs endothelial corneal dystrophy
- OMIM:230000 FUCOSIDOSIS
- ORPHA:349 Fucosidosis
- OMIM:606812 Fumarase deficiency
- ORPHA:228119 Fusariosis
Code pathologie
Nom de la pathologie
- 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
- ORPHA:100086 Gallbladder neuroendocrine tumor
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:619609 Galloway-Mowat syndrome 10
- OMIM:301006 Galloway-Mowat syndrome 2, X-linked
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:617730 Galloway-Mowat syndrome 4
- OMIM:617731 Galloway-Mowat syndrome 5
- OMIM:618347 Galloway-Mowat syndrome 6
- OMIM:618348 Galloway-Mowat syndrome 7
- OMIM:618349 Galloway-Mowat syndrome 8
- OMIM:137050 Gamma-A-Globulin, defect in assembly of
- OMIM:230450 Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- OMIM:230740 Gapo syndrome
- ORPHA:2067 GAPO syndrome
- OMIM:613659 Gastric cancer, somatic
- OMIM:137280 Gastritis, familial giant hypertrophic
- ORPHA:2069 Gastrocutaneous syndrome
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- OMIM:618372 Gastrointestinal ulceration, recurrent, with dysfunctional platelets
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- ORPHA:77261 Gaucher disease type 3
- OMIM:610539 Gaucher disease, atypical
- OMIM:608013 Gaucher disease, perinatal lethal
- OMIM:231000 Gaucher disease, type III
- ORPHA:438274 GCGR-related hyperglucagonemia
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:157991 Generalized eruptive histiocytosis
- ORPHA:786 Generalized glucocorticoid resistance syndrome
- ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli
- ORPHA:171876 Generalized pseudohypoaldosteronism type 1
- ORPHA:254704 Genetic hyperferritinemia without iron overload
- ORPHA:99845 Genetic recurrent myoglobinuria
- ORPHA:656 Genetic steroid-resistant nephrotic syndrome
- ORPHA:226316 Genetic transient congenital hypothyroidism
- OMIM:231080 German syndrome
- ORPHA:2077 German syndrome
- OMIM:231070 Geroderma osteodysplasticum
- ORPHA:397 Giant cell arteritis
- OMIM:143500 Gilbert syndrome
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- ORPHA:568051 GJC2-related late-onset primary lymphedema
- ORPHA:849 Glanzmann thrombasthenia
- OMIM:617272 Glaucoma 3, primary congenital, E
- ORPHA:360 Glioblastoma
- OMIM:618412 Global developmental delay, progressive ataxia, and elevated glutamine
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome
- OMIM:609886 Glomerulocystic kidney disease with hyperuricemia and isosthenuria
- OMIM:137950 Glomerulopathy with fibronectin deposits 1
- OMIM:601894 Glomerulopathy with fibronectin deposits 2
- OMIM:613237 Glomerulosclerosis, focal segmental, 5
- OMIM:138000 Glomuvenous malformations
- ORPHA:97280 Glucagonoma
- OMIM:202200 Glucocorticoid deficiency 1
- OMIM:607398 Glucocorticoid deficiency 2
- OMIM:609197 Glucocorticoid deficiency 3
- OMIM:614736 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
- OMIM:615962 Glucocorticoid resistance, generalized
- OMIM:138070 GLUCOGLYCINURIA
- ORPHA:35710 Glucose-galactose malabsorption
- OMIM:606824 Glucose/galactose malabsorption
- OMIM:606777 GLUT1 deficiency syndrome 1, infantile onset, severe
- OMIM:612126 Glut1 deficiency syndrome 2
- ORPHA:33574 Glutamate-cysteine ligase deficiency
- OMIM:610015 Glutamine deficiency, congenital
- OMIM:231670 Glutaric acidemia I
- ORPHA:35706 Glutaric acidemia type 3
- OMIM:231690 Glutaric aciduria III
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- OMIM:614164 Glutathione peroxidase deficiency
- ORPHA:32 Glutathione synthetase deficiency
- OMIM:266130 Glutathione synthetase deficiency
- OMIM:231950 GLUTATHIONURIA
- OMIM:307030 Glycerol kinase deficiency
- OMIM:605899 Glycine encephalopathy
- ORPHA:407 Glycine encephalopathy
- OMIM:606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY
- OMIM:138500 Glycinuria with or without oxalate urolithiasis
- OMIM:240600 Glycogen storage disease 0, liver
- OMIM:611556 Glycogen storage disease 0, muscle
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset
- ORPHA:57 Glycogen storage disease due to aldolase A deficiency
- ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency
- ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency
- ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency
- ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency
- ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency
- ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit 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:371 Glycogen storage disease due to muscle phosphofructokinase deficiency
- ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 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:232600 Glycogen storage disease V
- OMIM:232700 Glycogen storage disease VI
- OMIM:232800 Glycogen storage disease VII
- ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- OMIM:612933 Glycogen storage disease XI
- OMIM:611881 Glycogen storage disease XII
- OMIM:612932 Glycogen storage disease XIII
- OMIM:306000 Glycogen storage disease, type IXa1
- OMIM:616025 Glycosylphosphatidylinositol biosynthesis defect 11
- OMIM:617816 Glycosylphosphatidylinositol biosynthesis defect 16
- OMIM:618010 Glycosylphosphatidylinositol biosynthesis defect 17
- OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18
- OMIM:619985 Glycosylphosphatidylinositol biosynthesis defect 25
- OMIM:614033 Glyoxalase II 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
- OMIM:272750 Gm2-Gangliosidosis, ab variant
- ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:602 GNE myopathy
- OMIM:424500 GONADOBLASTOMA
- ORPHA:169105 Good syndrome
- OMIM:233450 Goodpasture syndrome
- ORPHA:73 Gorham-Stout disease
- OMIM:300323 Gout, hprt-related
- OMIM:602361 Gracile bone dysplasia
- OMIM:603358 Gracile syndrome
- ORPHA:53693 GRACILE syndrome
- ORPHA:39812 Graft versus host disease
- OMIM:306300 Granulomas, congenital cerebral
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
- OMIM:233710 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II
- ORPHA:33111 Granulomatous slack skin
- ORPHA:1426 Greenberg dysplasia
- OMIM:215140 Greenberg skeletal dysplasia
- OMIM:175700 Greig cephalopolysyndactyly syndrome
- ORPHA:97261 GRFoma
- ORPHA:381 Griscelli syndrome
- ORPHA:79476 Griscelli syndrome type 1
- ORPHA:79477 Griscelli syndrome type 2
- OMIM:607624 Griscelli syndrome, type 2
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- OMIM:262400 Growth hormone deficiency, isolated, type IA
- ORPHA:181393 Growth hormone insensitivity syndrome
- OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
- OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
- OMIM:617093 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
- ORPHA:414 Gyrate atrophy of choroid and retina
- OMIM:258870 Gyrate atrophy of choroid and retina with or without ornithinemia
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- OMIM:234350 Halothane hepatitis
- ORPHA:73229 HANAC syndrome
- OMIM:618892 Harderoporphyria
- OMIM:301068 Hardikar syndrome
- OMIM:617183 Harel-Yoon syndrome
- ORPHA:457 Harlequin ichthyosis
- ORPHA:2116 Hartnup disease
- OMIM:234500 Hartnup disorder
- OMIM:615465 Hartsfield syndrome
- ORPHA:2118 Hawkinsinuria
- OMIM:140350 Hawkinsinuria
- ORPHA:163596 Hb Bart's hydrops fetalis
- OMIM:604091 HDL deficiency, familial, 1
- ORPHA:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- OMIM:617671 Helix syndrome
- ORPHA:244242 HELLP syndrome
- OMIM:141000 Hemangioma-Thrombocytopenia syndrome
- OMIM:141200 Hematuria, benign familial
- 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
- OMIM:615517 Hemochromatosis, type 5
- ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome
- OMIM:301083 Hemolytic anemia due to elevated adenosine deaminase
- OMIM:618660 Hemolytic anemia due to glutathione reductase deficiency
- OMIM:231900 Hemolytic anemia due to glutathione synthetase deficiency
- ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency
- OMIM:612300 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
- 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:612922 Hemolytic uremic syndrome, atypical, susceptibility to, 2
- OMIM:612923 Hemolytic uremic syndrome, atypical, susceptibility to, 3
- OMIM:612924 Hemolytic uremic syndrome, atypical, susceptibility to, 4
- OMIM:612925 Hemolytic uremic syndrome, atypical, susceptibility to, 5
- OMIM:612926 Hemolytic uremic syndrome, atypical, susceptibility to, 6
- OMIM:267700 Hemophagocytic lymphohistiocytosis, familial, 1
- OMIM:603553 Hemophagocytic lymphohistiocytosis, familial, 2
- OMIM:608898 Hemophagocytic lymphohistiocytosis, familial, 3
- OMIM:603552 Hemophagocytic lymphohistiocytosis, familial, 4
- OMIM:613101 Hemophagocytic lymphohistiocytosis, familial, 5
- ORPHA:158048 Hemophagocytic syndrome associated with an infection
- ORPHA:340 Hemorrhagic fever-renal syndrome
- OMIM:235500 Hemosiderosis, pulmonary, with deficiency of gamma-A globulin
- OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome
- OMIM:616006 Hennekam lymphangiectasia-lymphedema syndrome 2
- OMIM:618154 Hennekam lymphangiectasia-lymphedema syndrome 3
- ORPHA:2136 Hennekam syndrome
- OMIM:142330 Hepatic adenomas, familial
- OMIM:614025 Hepatic lipase deficiency
- 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
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:95159 Hepatoerythropoietic porphyria
- ORPHA:64743 Hepatoportal sclerosis
- OMIM:619902 Hepatorenocardiac degenerative fibrosis
- ORPHA:85450 Hereditary amyloidosis with primary renal involvement
- ORPHA:100050 Hereditary angioedema type 1
- ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome
- ORPHA:30925 Hereditary central diabetes insipidus
- ORPHA:676 Hereditary chronic pancreatitis
- ORPHA:972 Hereditary continuous muscle fiber activity
- 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:163 Hereditary hyperferritinemia-cataract syndrome
- ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria
- OMIM:150800 Hereditary leiomyomatosis and renal cell cancer
- ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type
- ORPHA:1839 Hereditary mucoepithelial dysplasia
- ORPHA:178464 Hereditary myopathy with early respiratory failure
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:94088 Hereditary renal hypouricemia
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:822 Hereditary spherocytosis
- ORPHA:3467 Hereditary xanthinuria
- OMIM:608233 Hermansky-Pudlak syndrome 2
- ORPHA:1930 Herpes simplex virus encephalitis
- ORPHA:137599 Herpes simplex virus stromal keratitis
- OMIM:142625 Hirsutism, skeletal dysplasia, and mental retardation
- OMIM:235800 HISTIDINEMIA
- ORPHA:2157 Histidinemia
- OMIM:235830 Histidinuria due to A renal tubular defect
- ORPHA:2158 Histidinuria-renal tubular defect syndrome
- ORPHA:137675 Histiocytoid cardiomyopathy
- OMIM:235900 Histiocytosis, familial lipochrome
- 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:236100 Holoprosencephaly 1
- OMIM:618500 Holoprosencephaly 12 with or without pancreatic agenesis
- OMIM:236130 HOMOCARNOSINOSIS
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- OMIM:236270 Homocystinuria-megaloblastic anemia, cbl E type
- OMIM:250940 Homocystinuria-megaloblastic anemia, cblg Complementation type
- OMIM:606528 Homozygous 11p15-p14 deletion syndrome
- ORPHA:391665 Homozygous familial hypercholesterolemia
- OMIM:236300 Hooft disease
- ORPHA:391417 HSD10 disease
- ORPHA:391428 HSD10 disease, infantile type
- ORPHA:391457 HSD10 disease, neonatal type
- OMIM:300438 HSD10 mitochondrial disease
- ORPHA:228116 Hughes-Stovin syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- ORPHA:1041 Hydrops fetalis
- OMIM:236750 Hydrops fetalis, nonimmune
- OMIM:613124 Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
- OMIM:617021 Hydrops, lactic acidosis, and sideroblastic anemia
- ORPHA:79155 Hydroxykynureninuria
- OMIM:236800 Hydroxykynureninuria
- OMIM:236900 Hydroxylysinuria
- OMIM:237000 HYDROXYPROLINEMIA
- OMIM:237400 HYPER-BETA-ALANINEMIA
- OMIM:260920 Hyper-Igd syndrome
- OMIM:147060 Hyper-IgE recurrent infection syndrome
- OMIM:618282 Hyper-IgE recurrent infection syndrome 3, autosomal recessive
- OMIM:618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive
- OMIM:619752 Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
- OMIM:618944 Hyper-IgE recurrent infection syndrome 5, autosomal recessive
- OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive
- OMIM:605635 Hyperaldosteronism, familial, type II
- OMIM:613677 Hyperaldosteronism, familial, type III
- OMIM:143470 Hyperalphalipoproteinemia 1
- OMIM:614028 Hyperalphalipoproteinemia 2
- OMIM:615751 Hyperammonemia due to carbonic anhydrase VA deficiency
- 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:616963 Hypercalcemia, infantile 2
- OMIM:143880 Hypercalcemia, infantile, 1
- OMIM:143870 Hypercalciuria, absorptive, susceptibility to
- OMIM:143860 Hyperchlorhidrosis, isolated
- OMIM:607748 Hypercholanemia, familial
- OMIM:619256 Hypercholanemia, familial 2
- ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- OMIM:603813 Hypercholesterolemia, autosomal recessive
- OMIM:143890 Hypercholesterolemia, familial, 1
- OMIM:144010 Hypercholesterolemia, familial, 2
- OMIM:603776 Hypercholesterolemia, familial, 3
- OMIM:600886 Hyperferritinemia with or without cataract
- 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:602485 Hyperinsulinemic hypoglycemia, familial, 3
- OMIM:609975 Hyperinsulinemic hypoglycemia, familial, 4
- OMIM:609968 Hyperinsulinemic hypoglycemia, familial, 5
- OMIM:606762 Hyperinsulinemic hypoglycemia, familial, 6
- OMIM:610021 Hyperinsulinemic hypoglycemia, familial, 7
- ORPHA:79299 Hyperinsulinism due to glucokinase deficiency
- ORPHA:324575 Hyperinsulinism due to HNF1A deficiency
- ORPHA:263455 Hyperinsulinism due to HNF4A deficiency
- ORPHA:263458 Hyperinsulinism due to INSR deficiency
- ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- ORPHA:276556 Hyperinsulinism due to UCP2 deficiency
- ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome
- OMIM:170500 Hyperkalemic periodic paralysis
- ORPHA:682 Hyperkalemic periodic paralysis
- OMIM:238340 HYPERLEUCINE-ISOLEUCINEMIA
- ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
- OMIM:144250 Hyperlipidemia, familial combined, 3
- OMIM:615947 Hyperlipoproteinemia, type ID
- OMIM:144300 Hyperlipoproteinemia, type II, and deafness
- OMIM:144600 Hyperlipoproteinemia, type IV
- OMIM:144650 Hyperlipoproteinemia, type V
- ORPHA:2203 Hyperlysinemia
- OMIM:238710 Hyperlysinemia due to defect in lysine transport into mitochondria
- OMIM:238700 Hyperlysinemia, type I
- OMIM:238750 Hyperlysinuria with hyperammonemia
- OMIM:613280 Hypermanganesemia with dystonia 1
- OMIM:617013 Hypermanganesemia with dystonia 2
- OMIM:238800 Hypermetabolism due to defect in mitochondria
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- OMIM:613752 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
- OMIM:238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
- ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- OMIM:239100 Hyperostosis corticalis generalisata
- OMIM:144800 Hyperostosis frontalis interna
- OMIM:259900 Hyperoxaluria, primary, type I
- OMIM:260000 Hyperoxaluria, primary, type II
- OMIM:613616 Hyperoxaluria, primary, type III
- OMIM:145000 Hyperparathyroidism 1
- OMIM:145001 Hyperparathyroidism 2
- OMIM:617343 Hyperparathyroidism 4
- 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:264070 Hyperphenylalaninemia, BH4-deficient, D
- OMIM:615716 Hyperphosphatasia with impaired intellectual development syndrome 4
- OMIM:239300 Hyperphosphatasia with mental retardation
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- OMIM:614207 Hyperphosphatasia with mental retardation syndrome 3
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:239350 Hyperphosphatemia, polyuria, and seizures
- OMIM:616214 Hyperproinsulinemia
- ORPHA:419 Hyperprolinemia type 1
- ORPHA:79101 Hyperprolinemia type 2
- OMIM:239500 Hyperprolinemia, type I
- OMIM:239510 Hyperprolinemia, type II
- OMIM:145590 Hyperthermia, cutaneous, with headaches and nausea
- OMIM:609152 Hyperthyroidism, nonautoimmune
- OMIM:239850 Hypertrichotic osteochondrodysplasia
- OMIM:619324 Hypertriglyceridemia 2
- OMIM:145750 Hypertriglyceridemia, familial
- OMIM:614480 Hypertriglyceridemia, transient infantile
- OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant
- OMIM:614441 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
- OMIM:600627 HYPERTRYPTOPHANEMIA
- OMIM:240000 Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- OMIM:614227 Hyperuricemic nephropathy, familial juvenile, 3
- OMIM:618850 Hypervalinemia or hyperleucine-isoleucinemia
- OMIM:601979 Hyperzincemia with functional zinc depletion
- OMIM:240200 Hypoadrenocorticism, familial
- OMIM:610600 Hypoaldosteronism, congenital, due to CMO II deficiency
- OMIM:618463 Hypoalphalipoproteinemia, primary, 2
- OMIM:619836 Hypoalphalipoproteinemia, primary, 2, intermediate
- OMIM:240400 HYPOASCORBEMIA
- OMIM:615558 Hypobetalipoproteinemia, familial, 1
- OMIM:605019 Hypobetalipoproteinemia, familial, 2
- OMIM:601198 Hypocalcemia, autosomal dominant 1
- OMIM:615361 Hypocalcemia, autosomal dominant 2
- ORPHA:289157 Hypocalcemic vitamin D-dependent rickets
- ORPHA:93160 Hypocalcemic vitamin D-resistant 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:240800 Hypoglycemia of infancy, leucine-sensitive
- OMIM:307500 Hypogonadism, male, with mental retardation and skeletal anomalies
- OMIM:610628 Hypogonadotropic hypogonadism 4 with or without anosmia
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- OMIM:241120 Hypohidrosis with abnormal palmar dermal ridges
- ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy
- OMIM:240900 Hypoinsulinemic hypoglycemia with hemihypertrophy
- OMIM:241150 Hypokalemic alkalosis, familial, with specific renal tubulopathy
- ORPHA:681 Hypokalemic periodic paralysis
- OMIM:170400 Hypokalemic periodic paralysis, type 1
- OMIM:613345 Hypokalemic periodic paralysis, type 2
- OMIM:619406 Hypokalemic tubulopathy and deafness
- OMIM:602014 Hypomagnesemia 1, intestinal
- OMIM:154020 Hypomagnesemia 2, renal
- OMIM:248250 Hypomagnesemia 3, renal
- OMIM:611718 Hypomagnesemia 4, renal
- OMIM:248190 Hypomagnesemia 5, renal, with or without ocular involvement
- OMIM:613882 Hypomagnesemia 6, renal
- OMIM:616418 Hypomagnesemia, seizures, and mental retardation
- OMIM:618314 Hypomagnesemia, seizures, and mental retardation 2
- OMIM:300337 Hypomelanosis of ito
- OMIM:146200 Hypoparathyroidism, familial isolated
- OMIM:618883 Hypoparathyroidism, familial isolated 2
- OMIM:146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- ORPHA:436 Hypophosphatasia
- OMIM:146300 Hypophosphatasia, adult
- OMIM:241510 Hypophosphatasia, childhood
- OMIM:241500 Hypophosphatasia, infantile
- OMIM:146350 Hypophosphatemic bone disease
- ORPHA:437 Hypophosphatemic rickets
- OMIM:612089 Hypophosphatemic rickets and hyperparathyroidism
- OMIM:241530 Hypophosphatemic rickets with hypercalciuria, hereditary
- OMIM:193100 Hypophosphatemic rickets, autosomal dominant
- OMIM:241520 Hypophosphatemic rickets, autosomal recessive
- OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2
- OMIM:307800 Hypophosphatemic rickets, X-linked dominant
- OMIM:300554 Hypophosphatemic rickets, X-linked recessive
- ORPHA:722 Hypoplasminogenemia
- ORPHA:2248 Hypoplastic left heart syndrome
- OMIM:607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
- OMIM:145350 Hypotaurinemic retinal degeneration and cardiomyopathy
- 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:225250 Hypothyroidism, congenital, nongoitrous, 5
- OMIM:301033 Hypothyroidism, congenital, nongoitrous, 8
- OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:163690 Hypotonia-cystinuria syndrome
- ORPHA:90368 Hypotrichosis simplex of the scalp
- OMIM:607823 Hypotrichosis-Lymphedema-Telangiectasia syndrome
- ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- OMIM:137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome
- OMIM:307830 Hypouricemia, familial renal, due to tubular hypersecretion
- OMIM:242050 Hypouricemia, hypercalcinuria, and decreased bone density
- OMIM:220150 Hypouricemia, renal, 1
- OMIM:612076 Hypouricemia, renal, 2
- ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Code pathologie
Nom de la pathologie
- ORPHA:2268 ICF syndrome
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- OMIM:308200 Ichthyosis and male hypogonadism
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:606545 Ichthyosis, congenital, autosomal recessive 3
- OMIM:242530 Ichthyosis, mental retardation, dwarfism, and renal impairment
- OMIM:242550 Ichthyosis, split hairs, and amino aciduria
- ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- ORPHA:930 Idiopathic achalasia
- ORPHA:724 Idiopathic acute eosinophilic pneumonia
- ORPHA:280914 Idiopathic anterior uveitis
- ORPHA:60033 Idiopathic bronchiectasis
- ORPHA:1320 Idiopathic camptocormia
- ORPHA:2902 Idiopathic chronic eosinophilic pneumonia
- ORPHA:95717 Idiopathic congenital hypothyroidism
- ORPHA:209919 Idiopathic copper-associated cirrhosis
- ORPHA:2197 Idiopathic hypercalciuria
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:45452 Idiopathic neonatal atrial flutter
- ORPHA:567544 Idiopathic non-lupus full-house nephropathy
- ORPHA:280921 Idiopathic panuveitis
- ORPHA:275766 Idiopathic pulmonary arterial hypertension
- ORPHA:99931 Idiopathic pulmonary hemosiderosis
- ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome
- ORPHA:69061 Idiopathic steroid-sensitive nephrotic syndrome
- ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- ORPHA:79153 Idiopathic trachyonychia
- ORPHA:209956 Idiopathic uveal effusion syndrome
- ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension
- OMIM:161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1
- OMIM:613944 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2
- OMIM:616818 Iga nephropathy, susceptibility to, 3
- ORPHA:555905 IgA pemphigus
- OMIM:147050 Ige responsiveness, atopic
- 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:618882 Imerslund-Grasbeck syndrome 2
- ORPHA:35858 Imerslund-Gräsbeck syndrome
- OMIM:242600 IMINOGLYCINURIA
- ORPHA:42062 Iminoglycinuria
- OMIM:242700 Immune defect due to absence of thymus
- OMIM:146830 Immune deficiency, familial variable
- ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- ORPHA:206569 Immune-mediated necrotizing myopathy
- OMIM:612783 Immunodeficiency 10
- 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:615607 Immunodeficiency 17
- OMIM:615615 Immunodeficiency 18
- OMIM:615707 Immunodeficiency 20
- OMIM:615816 Immunodeficiency 23
- OMIM:615897 Immunodeficiency 24
- OMIM:610163 Immunodeficiency 25
- OMIM:209950 Immunodeficiency 27A, mycobacteriosis, AR
- OMIM:614162 Immunodeficiency 31C
- OMIM:614893 Immunodeficiency 32A
- OMIM:226990 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
- OMIM:300636 Immunodeficiency 33
- OMIM:611521 Immunodeficiency 35
- OMIM:616005 Immunodeficiency 36
- OMIM:616098 Immunodeficiency 37
- OMIM:616433 Immunodeficiency 40
- OMIM:606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity
- OMIM:241600 Immunodeficiency 43
- OMIM:616636 Immunodeficiency 44
- OMIM:616740 Immunodeficiency 46
- OMIM:300972 Immunodeficiency 47
- OMIM:269840 Immunodeficiency 48
- OMIM:300988 Immunodeficiency 50
- OMIM:613953 Immunodeficiency 51
- OMIM:617514 Immunodeficiency 52
- OMIM:609981 Immunodeficiency 54
- 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:618459 Immunodeficiency 62
- OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity
- OMIM:618534 Immunodeficiency 64
- OMIM:618847 Immunodeficiency 66
- 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:618986 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
- OMIM:618987 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
- OMIM:619126 Immunodeficiency 75
- OMIM:619220 Immunodeficiency 78 with autoimmunity and developmental delay
- OMIM:619313 Immunodeficiency 80 with or without cardiomyopathy
- OMIM:619374 Immunodeficiency 81
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619437 Immunodeficiency 84
- OMIM:619510 Immunodeficiency 85 and autoimmunity
- OMIM:619549 Immunodeficiency 86, mycobacteriosis
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:619632 Immunodeficiency 89 and autoimmunity
- OMIM:612782 Immunodeficiency 9
- 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:619773 Immunodeficiency 95
- OMIM:619774 Immunodeficiency 96
- OMIM:619802 Immunodeficiency 97 with autoinflammation
- OMIM:301078 Immunodeficiency 98 with autoinflammation, X-linked
- OMIM:619846 Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- ORPHA:572 Immunodeficiency by defective expression of MHC class II
- OMIM:610798 Immunodeficiency due to defect in mapbp-interacting protein
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency
- OMIM:608106 Immunodeficiency with hyper IgM, type 5
- OMIM:605258 Immunodeficiency with hyper-igm, type 2
- OMIM:606843 Immunodeficiency with hyper-igm, type 3
- OMIM:608184 Immunodeficiency with hyper-IgM, type 4
- OMIM:607594 Immunodeficiency, common variable, 1
- OMIM:615577 Immunodeficiency, common variable, 10
- OMIM:615767 Immunodeficiency, common variable, 11
- OMIM:616576 Immunodeficiency, common variable, 12
- OMIM:616873 Immunodeficiency, common variable, 13
- OMIM:617765 Immunodeficiency, common variable, 14
- OMIM:240500 Immunodeficiency, common variable, 2
- OMIM:613493 Immunodeficiency, common variable, 3
- OMIM:613494 Immunodeficiency, common variable, 4
- OMIM:613495 Immunodeficiency, common variable, 5
- OMIM:613496 Immunodeficiency, common variable, 6
- OMIM:614699 Immunodeficiency, common variable, 7
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:617744 Immunodeficiency, developmental delay, and hypohomocysteinemia
- OMIM:611926 Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis
- OMIM:242870 Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
- OMIM:308220 Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein
- 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:616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3
- OMIM:616911 Immunodeficiency-centromeric instability-facial anomalies syndrome 4
- OMIM:614069 Immunodeficiency-Centromeric instability-facial anomalies syndrome2
- OMIM:304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
- OMIM:242880 Immunoerythromyeloid hypoplasia
- 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:308250 Immunoglobulin M, level of
- OMIM:300076 Immunoneurologic disorder, X-linked
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- OMIM:617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities
- OMIM:619733 Inclusion body myopathy and brain white matter abnormalities
- OMIM:167320 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1
- OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
- OMIM:615424 Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- ORPHA:611 Inclusion body myositis
- ORPHA:98848 Indolent systemic mastocytosis
- OMIM:243050 Indolylacroyl glycinuria with mental retardation
- ORPHA:1909 Indomethacin embryofetopathy
- ORPHA:70587 Infant acute respiratory distress syndrome
- ORPHA:178478 Infant botulism
- ORPHA:238455 Infantile dystonia-parkinsonism
- 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
- 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:619398 Inflammatory bowel disease (infantile ulcerative colitis) 31
- 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:282166 Inherited Creutzfeldt-Jakob disease
- ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- OMIM:243080 Inosine phosphorylase deficiency, immune defect due to
- OMIM:256800 Insensitivity to pain, congenital, with anhidrosis
- ORPHA:411593 Insulin autoimmune syndrome
- OMIM:270450 Insulin-Like growth factor I, resistance to
- ORPHA:2297 Insulin-resistance syndrome type A
- ORPHA:2298 Insulin-resistance syndrome type B
- ORPHA:97279 Insulinoma
- OMIM:147630 Insulinomatosis and diabetes mellitus
- OMIM:619326 Intellectual developmental disorder and hypogonadotropic hypogonadism
- 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:618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia
- OMIM:617600 Intellectual developmental disorder, autosomal dominant 45
- OMIM:249500 Intellectual developmental disorder, autosomal recessive 1
- OMIM:611091 Intellectual developmental disorder, autosomal recessive 5
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- ORPHA:352530 Intellectual disability-obesity-brain malformations-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
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- ORPHA:210110 Intermediate osteopetrosis
- ORPHA:279914 Intermediate uveitis
- ORPHA:329967 Intermittent hydrarthrosis
- ORPHA:79099 Interstitial granulomatous dermatitis with arthritis
- OMIM:615486 Interstitial lung and liver disease
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- OMIM:614817 Interstitial nephritis, karyomegalic
- OMIM:263000 Interstitial pneumonitis, desquamative, familial
- ORPHA:69665 Intrahepatic cholestasis of pregnancy
- OMIM:600546 Intrauterine growth retardation with increased mitomycin C sensitivity
- OMIM:614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies
- OMIM:243320 Intrinsic factor and R binder, combined congenital deficiency of
- OMIM:261000 Intrinsic factor deficiency
- ORPHA:209981 IRIDA syndrome
- ORPHA:64734 Iridocorneal endothelial syndrome
- OMIM:601195 Iron overload in africa
- OMIM:620121 Iron overload, susceptibility to
- OMIM:206200 Iron-Refractory iron deficiency anemia
- ORPHA:209943 IRVAN syndrome
- ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency
- OMIM:611283 Isobutyryl-CoA dehydrogenase deficiency
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:563609 Isolated anencephaly
- ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase
- ORPHA:30391 Isolated biliary atresia
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:563612 Isolated exencephaly
- ORPHA:408 Isolated glycerol kinase deficiency
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:2924 Isolated polycystic liver disease
- ORPHA:439 Isolated right ventricular hypoplasia
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:457083 Isolated splenogonadal fusion
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- ORPHA:2306 Isotretinoin-like syndrome
- OMIM:243500 Isovaleric acidemia
- ORPHA:33 Isovaleric acidemia
- ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20
Code pathologie
Nom de la pathologie
- ORPHA:79139 Japanese encephalitis
- OMIM:308600 Jaundice, familial obstructive, of infancy
- ORPHA:100077 Jejunal neuroendocrine tumor
- OMIM:243800 Johanson-Blizzard syndrome
- ORPHA:2315 Johanson-Blizzard syndrome
- OMIM:618161 Joubert syndrome 35
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia
- OMIM:618795 Juvenile arthritis
- ORPHA:93672 Juvenile dermatomyositis
- ORPHA:92 Juvenile idiopathic arthritis
- ORPHA:289596 Juvenile nasopharyngeal angiofibroma
- ORPHA:411634 Juvenile nephropathic cystinosis
- ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis
- ORPHA:2801 Juvenile Paget disease
- ORPHA:79076 Juvenile polyposis of infancy
- OMIM:174900 Juvenile polyposis syndrome
- ORPHA:2929 Juvenile polyposis syndrome
- ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Code pathologie
Nom de la pathologie
- OMIM:300867 Kabuki syndrome 2
- OMIM:609242 Kanzaki disease
- ORPHA:33276 Kaposi sarcoma
- OMIM:148000 Kaposi sarcoma, susceptibility to
- ORPHA:464329 Kaposiform lymphangiomatosis
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- ORPHA:2331 Kawasaki disease
- ORPHA:439218 KCNQ2-related epileptic encephalopathy
- OMIM:530000 Kearns-Sayre syndrome
- OMIM:244460 Kenny-caffey syndrome, type 1
- OMIM:127000 Kenny-caffey syndrome, type 2
- ORPHA:499 Kerion celsi
- ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome
- ORPHA:50918 Kikuchi-Fujimoto disease
- OMIM:619080 Kilquist syndrome
- ORPHA:482 Kimura disease
- OMIM:619542 King-Denborough syndrome
- ORPHA:99978 Klatskin tumor
- ORPHA:399081 KLHL9-related early-onset distal myopathy
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:149000 Klippel-Trenaunay-Weber syndrome
- ORPHA:485 Kniest dysplasia
- OMIM:245190 Kniest-Like dysplasia, lethal
- OMIM:245200 Krabbe disease
- ORPHA:306674 Kufor-Rakeb syndrome
- ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Code pathologie
Nom de la pathologie
- OMIM:236792 L-2-hydroxyglutaric aciduria
- OMIM:615604 L-ferritin deficiency, dominant and recessive
- OMIM:149700 Lacrimal duct defect
- OMIM:223000 Lactase deficiency, congenital
- OMIM:223100 Lactase persistence/nonpersistence
- OMIM:614128 Lactate dehydrogenase B deficiency
- OMIM:150170 Lactic acidosis, chronic adult form
- OMIM:245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID
- ORPHA:59135 Laing early-onset distal myopathy
- ORPHA:1296 Lambert syndrome
- ORPHA:313 Lamellar ichthyosis
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy
- ORPHA:633 Laron syndrome
- OMIM:245650 Larsen-like syndrome, Lethal type
- ORPHA:100083 Laryngeal neuroendocrine tumor
- ORPHA:99824 Lassa fever
- ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis
- ORPHA:206443 Late-infantile/juvenile Krabbe disease
- ORPHA:556037 Late-onset familial hypoaldosteronism
- ORPHA:199299 Late-onset isolated ACTH deficiency
- OMIM:607330 Lathosterolosis
- ORPHA:98964 Lattice corneal dystrophy type I
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:650 LCAT deficiency
- ORPHA:330015 Lead poisoning
- OMIM:204000 Leber congenital amaurosis, type I
- ORPHA:104 Leber hereditary optic neuropathy
- OMIM:500001 Leber optic atrophy and dystonia
- OMIM:245900 Lecithin:cholesterol acyltransferase deficiency
- ORPHA:549 Legionnaires disease
- OMIM:256000 Leigh syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:70474 Leigh syndrome with cardiomyopathy
- ORPHA:255241 Leigh syndrome with leukodystrophy
- ORPHA:255249 Leigh syndrome with nephrotic syndrome
- OMIM:220111 Leigh syndrome, french Canadian type
- OMIM:308940 Leiomyomatosis, diffuse, with alport syndrome
- ORPHA:507 Leishmaniasis
- ORPHA:508 Leprechaunism
- OMIM:614963 Leptin receptor deficiency
- ORPHA:509 Leptospirosis
- OMIM:308950 Lesch-Nyhan phenotype with normal hgprt
- ORPHA:510 Lesch-Nyhan syndrome
- OMIM:300322 Lesch-Nyhan syndrome
- ORPHA:1187 Lethal ataxia with deafness and optic atrophy
- OMIM:253310 Lethal congenital contracture syndrome 1
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:607598 Lethal congenital contracture syndrome 2
- OMIM:615368 Lethal congenital contracture syndrome 5
- ORPHA:254857 Lethal infantile mitochondrial myopathy
- ORPHA:2347 Lethal Kniest-like dysplasia
- ORPHA:1423 Lethal recessive chondrodysplasia
- OMIM:246400 Letterer-Siwe disease
- OMIM:608232 Leukemia, chronic myeloid
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:116920 Leukocyte adhesion deficiency, type I
- OMIM:616683 Leukodystrophy, hypomyelinating, 12
- OMIM:619310 Leukodystrophy, hypomyelinating, 21
- OMIM:619688 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
- ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- OMIM:603896 Leukoencephalopathy with vanishing white matter
- OMIM:618384 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- ORPHA:2387 Leukonychia totalis
- OMIM:614037 Leukotriene C4 synthase deficiency
- ORPHA:526 Liddle syndrome
- OMIM:177200 Liddle syndrome 1
- OMIM:618114 Liddle syndrome 2
- OMIM:618126 Liddle syndrome 3
- ORPHA:99812 LIG4 syndrome
- OMIM:609115 Limb-girdle muscular dystrophy, type 1G
- ORPHA:2611 Linear verrucous nevus syndrome
- OMIM:246650 Lipase deficiency, combined
- ORPHA:435660 LIPE-related familial partial lipodystrophy
- OMIM:614103 LIPEDEMA
- OMIM:255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
- ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:612526 Lipodystrophy, congenital generalized, type 3
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- OMIM:608600 Lipodystrophy, familial partial, type 1
- OMIM:151660 Lipodystrophy, familial partial, type 2
- OMIM:604367 Lipodystrophy, familial partial, type 3
- OMIM:613877 Lipodystrophy, familial partial, type 4
- OMIM:615238 Lipodystrophy, familial partial, type 5
- OMIM:615980 Lipodystrophy, familial partial, type 6
- OMIM:606721 Lipodystrophy, familial partial, type 7
- OMIM:608709 Lipodystrophy, partial, acquired, susceptibility to
- OMIM:613913 Lipodystrophy, partial, acquired, with low complement component C3, with or without glomerulonephritis
- OMIM:201710 Lipoid congenital adrenal hyperplasia
- OMIM:611771 Lipoprotein glomerulopathy
- OMIM:616299 Lipoyltransferase 1 deficiency
- OMIM:257320 Lissencephaly 2
- OMIM:616342 Lissencephaly 7 with cerebellar hypoplasia
- OMIM:617255 Lissencephaly 8
- ORPHA:95232 Lissencephaly due to LIS1 mutation
- ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome
- ORPHA:533 Listeriosis
- ORPHA:542643 Livedoid vasculopathy
- OMIM:619991 Liver disease, severe congenital
- OMIM:613070 Liver failure, infantile, transient
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:79400 Localized epidermolysis bullosa simplex
- ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- OMIM:603830 Long QT syndrome 3
- OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency
- ORPHA:69663 Low phospholipid-associated cholelithiasis
- OMIM:309000 Lowe syndrome
- ORPHA:276435 Lower motor neuron syndrome with late-adult onset
- ORPHA:319213 Lujo hemorrhagic fever
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- ORPHA:91546 Lyme disease
- OMIM:152800 Lymphangiectasia, intestinal
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- ORPHA:538 Lymphangioleiomyomatosis
- ORPHA:2035 Lymphatic filariasis
- OMIM:153100 Lymphatic malformation 1
- OMIM:619369 Lymphatic malformation 10
- OMIM:619401 Lymphatic malformation 11
- OMIM:620014 Lymphatic malformation 12
- OMIM:611944 Lymphatic malformation 2
- OMIM:617300 Lymphatic malformation 7
- OMIM:618773 Lymphatic malformation 8
- OMIM:619319 Lymphatic malformation 9
- OMIM:152900 Lymphedema and cerebral arteriovenous anomaly
- OMIM:601927 Lymphedema, cardiac septal defects, and characteristic facies
- OMIM:613480 Lymphedema, hereditary, IC
- OMIM:615907 Lymphedema, hereditary, ID
- OMIM:153200 Lymphedema, hereditary, II
- OMIM:616843 Lymphedema, hereditary, III
- OMIM:614038 Lymphedema, primary, with myelodysplasia
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:153400 Lymphedema-Distichiasis syndrome
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- OMIM:247430 Lymphoblastic transformation, inhibition of
- OMIM:247450 Lymphoblastic transformation, intrinsic defect in
- ORPHA:79128 Lymphoid interstitial pneumonia
- OMIM:247630 Lymphoid system deterioration, progressive
- OMIM:247650 Lymphokine deficiency
- OMIM:236000 Lymphoma, hodgkin
- OMIM:247800 Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis
- 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
- OMIM:247950 Lysine malabsorption syndrome
- ORPHA:470 Lysinuric protein intolerance
- OMIM:222700 Lysinuric protein intolerance
- ORPHA:275761 Lysosomal acid lipase deficiency
- OMIM:278000 Lysosomal acid lipase deficiency
Code pathologie
Nom de la pathologie
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- ORPHA:397612 Macrocephaly-developmental delay syndrome
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- OMIM:605309 Macrocephaly/autism syndrome
- OMIM:600084 Macrocytosis, familial
- OMIM:153600 Macroglobulinemia, Waldenstrom, somatic
- ORPHA:158061 Macrophage activation syndrome
- ORPHA:592 Macrophagic myofasciitis
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:98969 Macular corneal dystrophy
- OMIM:217800 Macular dystrophy, corneal, 1
- OMIM:153880 Macular edema, cystoid
- ORPHA:79457 Maculopapular cutaneous mastocytosis
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- OMIM:248260 Magnesium, elevated red cell
- OMIM:619290 Mahvash disease
- OMIM:609628 Majeed syndrome
- ORPHA:77297 Majeed syndrome
- ORPHA:556 Malakoplakia
- ORPHA:673 Malaria
- ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- ORPHA:529970 Male infertility due to acephalic spermatozoa
- OMIM:602248 Malignant atrophic papulosis
- ORPHA:679 Malignant atrophic papulosis
- ORPHA:423 Malignant hyperthermia of anesthesia
- OMIM:145600 Malignant hyperthermia, susceptibility to, 1
- OMIM:154275 Malignant hyperthermia, susceptibility to, 2
- OMIM:154276 Malignant hyperthermia, susceptibility to, 3
- OMIM:600467 Malignant hyperthermia, susceptibility to, 4
- OMIM:601887 Malignant hyperthermia, susceptibility to, 5
- ORPHA:168811 Malignant peritoneal mesothelioma
- OMIM:248360 Malonyl-CoA decarboxylase deficiency
- ORPHA:52417 MALT lymphoma
- ORPHA:397941 MAN1B1-CDG
- OMIM:615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- OMIM:248370 Mandibuloacral dysplasia
- ORPHA:2457 Mandibuloacral dysplasia
- OMIM:619127 Mandibuloacral dysplasia progeroid syndrome
- ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy
- OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy
- ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy
- ORPHA:306682 Manganese poisoning
- OMIM:154570 Mannose 6-phosphate receptor recognition defect, Lebanese type
- OMIM:248510 Mannosidosis, beta
- ORPHA:52416 Mantle cell lymphoma
- ORPHA:511 Maple syrup urine disease
- OMIM:248600 Maple syrup urine disease
- OMIM:615135 Maple syrup urine disease, mild variant
- OMIM:619322 Marbach-Rustad progeroid syndrome
- ORPHA:99826 Marburg hemorrhagic fever
- ORPHA:221074 Marchiafava-Bignami disease
- OMIM:248800 Marinesco-Sjogren syndrome
- ORPHA:559 Marinesco-Sjögren syndrome
- OMIM:147430 Marsili syndrome
- ORPHA:98292 Mastocytosis
- OMIM:154800 Mastocytosis, cutaneous
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:96179 Maternal uniparental disomy of chromosome 2
- ORPHA:96180 Maternal uniparental disomy of chromosome 4
- ORPHA:261519 Maternal uniparental disomy of chromosome X
- ORPHA:225 Maternally-inherited diabetes and deafness
- OMIM:606394 Maturity-onset diabetes of the young 6
- OMIM:125850 Maturity-onset diabetes of the young, type 1
- OMIM:613370 Maturity-onset diabetes of the young, type 10
- OMIM:613375 Maturity-onset diabetes of the young, type 11
- OMIM:616329 Maturity-onset diabetes of the young, type 13
- OMIM:616511 Maturity-onset diabetes of the young, type 14
- OMIM:606392 Maturity-onset diabetes of the young, type 4
- OMIM:609812 Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction
- OMIM:125851 Maturity-onset diabetes of the young, type II
- OMIM:600496 Maturity-onset diabetes of the young, type III
- OMIM:612225 Maturity-onset diabetes of the young, type IX
- OMIM:610508 Maturity-onset diabetes of the young, type VII
- ORPHA:1248 Maxillonasal dysplasia
- ORPHA:562 McCune-Albright syndrome
- OMIM:236700 Mckusick-Kaufman syndrome
- OMIM:300842 Mcleod syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:619879 Meckel syndrome 14
- ORPHA:70588 Meconium aspiration syndrome
- OMIM:614665 Meconium ileus
- ORPHA:57196 Medial condensing osteitis of the clavicle
- OMIM:602199 Medium chain 3-ketoacyl-coa thiolase deficiency
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- ORPHA:171851 MEDNIK syndrome
- OMIM:603860 Medullary cystic kidney disease 2
- ORPHA:1309 Medullary sponge kidney
- ORPHA:1332 Medullary thyroid carcinoma
- ORPHA:616 Medulloblastoma
- OMIM:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
- ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- OMIM:261100 Megaloblastic anemia 1
- OMIM:613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
- OMIM:601775 Megaloblastic anemia, folate-responsive
- ORPHA:2479 Megalocornea-intellectual disability syndrome
- OMIM:249310 Megalocornea-Mental retardation syndrome
- ORPHA:85282 MEHMO syndrome
- OMIM:300148 Mehmo syndrome
- ORPHA:90186 Meige disease
- ORPHA:550 MELAS
- ORPHA:31202 Melioidosis
- ORPHA:2483 Melkersson-Rosenthal syndrome
- OMIM:155900 Melkersson-Rosenthal syndrome
- ORPHA:2485 Melorheostosis
- OMIM:305800 Membranoproliferative glomerulonephritis, X-linked
- ORPHA:401973 MEND syndrome
- ORPHA:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
- ORPHA:2494 Ménétrier disease
- ORPHA:2495 Meningioma
- ORPHA:33475 Meningococcal meningitis
- ORPHA:565 Menkes disease
- OMIM:309400 Menkes disease
- OMIM:249599 Mental retardation syndrome, Belgian type
- OMIM:616355 Mental retardation, autosomal dominant 35
- OMIM:617635 Mental retardation, autosomal dominant 47
- OMIM:616917 Mental retardation, autosomal recessive 53
- OMIM:609313 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
- OMIM:309620 Mental retardation, skeletal dysplasia, and abducens palsy
- OMIM:300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type
- OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- ORPHA:508093 MEPAN syndrome
- OMIM:249650 Mercaptolactate-Cysteine disulfiduria
- ORPHA:330021 Mercury poisoning
- OMIM:618416 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
- OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- ORPHA:512 Metachromatic leukodystrophy
- ORPHA:309271 Metachromatic leukodystrophy, adult form
- ORPHA:309263 Metachromatic leukodystrophy, juvenile form
- ORPHA:309256 Metachromatic leukodystrophy, late infantile form
- OMIM:156400 Metaphyseal chondrodysplasia, Jansen type
- OMIM:250300 Metaphyseal chondrodysplasia, Pena type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type
- ORPHA:31825 Methanol poisoning
- OMIM:250790 Methemoglobinemia and ambiguous genitalia
- OMIM:250850 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
- OMIM:250900 Methionine malabsorption syndrome
- ORPHA:2169 Methylcobalamin deficiency type cblE
- OMIM:614105 Methylmalonate semialdehyde dehydrogenase deficiency
- OMIM:309541 Methylmalonic acidemia and homocysteinemia, Cblx type
- ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type
- OMIM:277410 Methylmalonic aciduria and homocystinuria, Cbld type
- OMIM: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:613646 Methylmalonic aciduria, transient, due to transcobalamin receptor defect
- OMIM:251110 Methylmalonic aciduria, vitamin B12-responsive, cblB type
- OMIM:251120 Methylmalonyl-Coa epimerase deficiency
- OMIM:610377 Mevalonic aciduria
- ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:79329 MGAT2-CDG
- ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III
- OMIM:210710 Microcephalic osteodysplastic primordial dwarfism, type I
- OMIM:210720 Microcephalic osteodysplastic primordial dwarfism, type II
- OMIM:251190 Microcephalic primordial dwarfism, Toriello type
- ORPHA:2643 Microcephalic primordial dwarfism, Toriello type
- ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:152950 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
- OMIM:607196 Microcephaly, Amish type
- OMIM:614407 Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome
- OMIM:616834 Microcephaly, congenital cataract, and psoriasiform dermatitis
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome
- OMIM:619278 Microcephaly, epilepsy, and diabetes syndrome 2
- OMIM:618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2
- OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
- OMIM:251200 Microcephaly, primary autosomal recessive, 1
- OMIM:616033 Microcephaly, short stature, and impaired glucose metabolism 1
- OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2
- ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome
- ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
- ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- ORPHA:280200 Microform holoprosencephaly
- ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- ORPHA:50810 Microlissencephaly-micromelia syndrome
- OMIM:611040 Microphthalmia, isolated 5
- ORPHA:727 Microscopic polyangiitis
- ORPHA:2552 Microsporidiosis
- ORPHA:289522 Microtriplication 11q24.1
- ORPHA:2290 Microvillus inclusion disease
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- OMIM:608624 Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:141500 Migraine, familial hemiplegic, 1
- OMIM:602481 Migraine, familial hemiplegic, 2
- ORPHA:314918 Mild Canavan disease
- ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:79452 Milroy disease
- OMIM:255320 Minicore myopathy with external ophthalmoplegia
- OMIM:617053 Mirage syndrome
- ORPHA:521219 Mirizzi syndrome
- OMIM:615710 Mitchell-Riley syndrome
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618234 Mitochondrial complex I deficiency, nuclear type 11
- OMIM:301020 Mitochondrial complex I deficiency, nuclear type 12
- OMIM:618235 Mitochondrial complex I deficiency, nuclear type 13
- OMIM:618236 Mitochondrial complex I deficiency, nuclear type 14
- OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15
- OMIM:618238 Mitochondrial complex I deficiency, nuclear type 16
- OMIM:618239 Mitochondrial complex I deficiency, nuclear type 17
- 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:618242 Mitochondrial complex I deficiency, nuclear type 21
- OMIM:618243 Mitochondrial complex I deficiency, nuclear type 22
- OMIM:618244 Mitochondrial complex I deficiency, nuclear type 23
- OMIM:618245 Mitochondrial complex I deficiency, nuclear type 24
- OMIM:618246 Mitochondrial complex I deficiency, nuclear type 25
- OMIM:618247 Mitochondrial complex I deficiency, nuclear type 26
- OMIM:618248 Mitochondrial complex I deficiency, nuclear type 27
- OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28
- OMIM:618250 Mitochondrial complex I deficiency, nuclear type 29
- OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3
- OMIM:301021 Mitochondrial complex I deficiency, nuclear type 30
- OMIM:618251 Mitochondrial complex I deficiency, nuclear type 31
- OMIM:618252 Mitochondrial complex I deficiency, nuclear type 32
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:618776 Mitochondrial complex I deficiency, nuclear type 34
- OMIM:619003 Mitochondrial complex I deficiency, nuclear type 35
- OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36
- OMIM:619272 Mitochondrial complex I deficiency, nuclear type 37
- OMIM:620135 Mitochondrial complex I deficiency, nuclear type 39
- OMIM:618225 Mitochondrial complex I deficiency, nuclear type 4
- OMIM:618226 Mitochondrial complex I deficiency, nuclear type 5
- OMIM:618228 Mitochondrial complex I deficiency, nuclear type 6
- OMIM:618229 Mitochondrial complex I deficiency, nuclear type 7
- OMIM:618230 Mitochondrial complex I deficiency, nuclear type 8
- OMIM:618232 Mitochondrial complex I deficiency, nuclear type 9
- OMIM:252011 Mitochondrial complex II deficiency
- OMIM:619167 Mitochondrial complex II deficiency, nuclear type 3
- OMIM: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:615159 Mitochondrial complex III deficiency, nuclear type 4
- 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:615838 Mitochondrial complex III deficiency, nuclear type 8
- 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:619054 Mitochondrial complex IV deficiency, nuclear type 11
- OMIM:619055 Mitochondrial complex IV deficiency, nuclear type 12
- OMIM:616501 Mitochondrial complex IV deficiency, nuclear type 13
- OMIM:619058 Mitochondrial complex IV deficiency, nuclear type 14
- OMIM:619059 Mitochondrial complex IV deficiency, nuclear type 15
- OMIM:619060 Mitochondrial complex IV deficiency, nuclear type 16
- OMIM:619061 Mitochondrial complex IV deficiency, nuclear type 17
- OMIM:619062 Mitochondrial complex IV deficiency, nuclear type 18
- 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:619065 Mitochondrial complex IV deficiency, nuclear type 21
- 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:619051 Mitochondrial complex IV deficiency, nuclear type 7
- OMIM:618120 Mitochondrial complex V (ATP synthase) deficiency nuclear type 5
- OMIM:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- OMIM:614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- OMIM:614053 Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
- 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:617184 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic 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:618811 Mitochondrial DNA depletion syndrome 18
- OMIM:618972 Mitochondrial DNA depletion syndrome 19
- OMIM:609560 Mitochondrial DNA depletion syndrome 2 (myopathic 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:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome
- ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss
- ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia
- OMIM:500013 Mitochondrial form of axonal Charcot-Marie-Tooth disease-1
- ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia
- OMIM:251945 Mitochondrial myopathy with A defect in mitochondrial-protein transport
- OMIM:500002 Mitochondrial myopathy with diabetes
- 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:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- OMIM:610773 Mitochondrial phosphate carrier deficiency
- 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:90036 Mixed-type autoimmune hemolytic anemia
- OMIM:254130 Miyoshi muscular dystrophy 1
- OMIM:613319 Miyoshi muscular dystrophy 3
- ORPHA:552 MODY
- ORPHA:79330 MOGS-CDG
- ORPHA:52368 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
- OMIM:252250 Monocyte chemotactic disorder
- ORPHA:96168 Monosomy 13q34
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:99226 Monosomy X
- OMIM:615703 Morbid obesity and spermatogenic failure
- ORPHA:77296 Morgagni-Stewart-Morel syndrome
- OMIM:252300 Morquio syndrome C
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1692 Mosaic trisomy 1
- ORPHA:1703 Mosaic trisomy 14
- ORPHA:1706 Mosaic trisomy 15
- ORPHA:1708 Mosaic trisomy 16
- ORPHA:99776 Mosaic trisomy 9
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:257300 Mosaic variegated aneuploidy syndrome 1
- OMIM:617598 Mosaic variegated aneuploidy syndrome 3
- ORPHA:2152 Mowat-Wilson syndrome
- ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation
- ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22
- ORPHA:79323 MPDU1-CDG
- ORPHA:79319 MPI-CDG
- ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia
- ORPHA:100024 Mu-heavy chain disease
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- OMIM:252500 Mucolipidosis II alpha/beta
- OMIM:252600 Mucolipidosis III alpha/beta
- OMIM:252605 Mucolipidosis III gamma
- OMIM:252650 Mucolipidosis IV
- ORPHA:578 Mucolipidosis type IV
- OMIM:252700 Mucopolysaccharidoses, unclassified types
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- ORPHA:582 Mucopolysaccharidosis type 4
- ORPHA:583 Mucopolysaccharidosis type 6
- ORPHA:584 Mucopolysaccharidosis type 7
- OMIM:252900 Mucopolysaccharidosis type IIIA
- OMIM:252920 Mucopolysaccharidosis type IIIB
- OMIM:252930 Mucopolysaccharidosis type IIIC
- OMIM:253010 Mucopolysaccharidosis type IVB (Morquio)
- OMIM:253220 Mucopolysaccharidosis VII
- OMIM:252940 Mucopolysaccharidosis, type IIID
- OMIM:253200 Mucopolysaccharidosis, type VI
- OMIM:619698 Mucopolysaccharidosis, type X
- ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- OMIM:617303 Mucopolysaccharidosis-Plus syndrome
- OMIM:253240 Mucus inspissation of respiratory tract
- ORPHA:566943 Mueller-Weiss syndrome
- OMIM:253250 Mulibrey nanism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy
- OMIM:166300 Multicentric carpotarsal osteolysis syndrome
- ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum
- ORPHA:139436 Multicentric reticulohistiocytosis
- OMIM:253320 Multicore myopathy with mental retardation, short stature, and hypogonadotropichypogonadism
- ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- ORPHA:641 Multifocal motor neuropathy
- ORPHA:598 Multiminicore myopathy
- 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:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- OMIM: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:166011 Multiple epiphyseal dysplasia, Beighton type
- 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
- OMIM:254500 Multiple myeloma
- ORPHA:29073 Multiple myeloma
- OMIM:253290 Multiple pterygium syndrome, Lethal type
- OMIM:312150 Multiple pterygium syndrome, X-linked
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- ORPHA:2398 Multiple symmetric lipomatosis
- OMIM:158400 Muscle cramps, familial
- OMIM:300559 Muscle glycogenosis, X-linked
- ORPHA:588 Muscle-eye-brain disease
- ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- OMIM:158500 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
- ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- OMIM:300376 Muscular dystrophy, Becker type
- OMIM:309930 Muscular dystrophy, Cardiac type
- OMIM:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:604801 Muscular dystrophy, congenital, 1B
- OMIM:613204 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
- OMIM:613205 Muscular dystrophy, congenital, lmna-related
- OMIM:602541 Muscular dystrophy, congenital, Megaconial type
- OMIM:607855 Muscular dystrophy, congenital, merosin deficient or partially deficient
- OMIM:609456 Muscular dystrophy, congenital, merosin-positive
- OMIM:617404 Muscular dystrophy, congenital, with cataracts and intellectual disability
- OMIM:608423 Muscular dystrophy, limb-girdle, autosomal dominant 2
- OMIM:618129 Muscular dystrophy, limb-girdle, autosomal dominant 4
- OMIM:608807 Muscular dystrophy, limb-girdle, autosomal recessive 10
- OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18
- OMIM:618138 Muscular dystrophy, limb-girdle, autosomal recessive 23
- OMIM:616812 Muscular dystrophy, limb-girdle, autosomal recessive 25
- OMIM:618848 Muscular dystrophy, limb-girdle, autosomal recessive 26
- OMIM:619566 Muscular dystrophy, limb-girdle, autosomal recessive 27
- OMIM:603511 Muscular dystrophy, limb-girdle, type 1E
- OMIM:613530 Muscular dystrophy, limb-girdle, type 1H
- OMIM:253600 Muscular dystrophy, limb-girdle, type 2A
- OMIM:253601 Muscular dystrophy, limb-girdle, type 2B
- OMIM:253700 Muscular dystrophy, limb-girdle, type 2C
- OMIM:608099 Muscular dystrophy, limb-girdle, type 2D
- OMIM:604286 Muscular dystrophy, limb-girdle, type 2E
- OMIM:601287 Muscular dystrophy, limb-girdle, type 2F
- OMIM:601954 Muscular dystrophy, limb-girdle, type 2G
- OMIM:254110 Muscular dystrophy, limb-girdle, type 2H
- OMIM:611307 Muscular dystrophy, limb-girdle, type 2L
- OMIM:613723 Muscular dystrophy, limb-girdle, type 2Q
- OMIM:616827 Muscular dystrophy, limb-girdle, type 2W
- OMIM:617072 Muscular dystrophy, limb-girdle, type 2Y
- OMIM:617232 Muscular dystrophy, limb-girdle, type 2Z
- OMIM:310095 Muscular dystrophy, progressive pectorodorsal
- OMIM:600416 Muscular dystrophy, scapulohumeral
- OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
- OMIM:615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
- OMIM:615287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
- OMIM:615350 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
- OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
- OMIM:253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
- OMIM:253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
- OMIM:613153 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
- OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- OMIM:616538 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
- OMIM:615181 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
- OMIM:613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6
- OMIM:613155 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1
- OMIM:615351 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14
- OMIM:618992 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
- OMIM:613156 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2
- OMIM:613151 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
- OMIM:608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6
- OMIM:606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5
- OMIM:613152 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
- OMIM:609308 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
- OMIM:616094 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12
- OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
- OMIM:612937 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
- OMIM:613158 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
- OMIM:613157 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
- OMIM:611588 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
- OMIM:607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
- OMIM:616052 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
- OMIM:618135 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
- OMIM:613818 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
- ORPHA:589 Myasthenia gravis
- OMIM:254190 Myasthenia, congenital, refractory to acetylcholinesterase inhibitors
- OMIM:159400 Myasthenia, limb-girdle, autoimmune
- OMIM:254300 Myasthenia, limb-girdle, familial
- OMIM:616228 Myasthenic syndrome, congenital, 14
- OMIM:616224 Myasthenic syndrome, congenital, 22
- OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1
- ORPHA:268249 Mycophenolate mofetil embryopathy
- ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
- OMIM:254450 Myelofibrosis with myeloid metaplasia, somatic
- OMIM:254600 Myeloperoxidase deficiency
- OMIM:254700 Myeloproliferative disease, autosomal recessive
- ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy
- ORPHA:182050 MYH9-related disease
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- OMIM:545000 Myoclonic epilepsy associated with ragged-red fibers
- OMIM:619040 Myofibrillar myopathy 10
- OMIM:268200 Myoglobinuria, acute recurrent, autosomal recessive
- OMIM:160010 Myoglobinuria, autosomal dominant
- OMIM:550500 Myoglobinuria, recurrent
- ORPHA:536516 Myopathic Ehlers-Danlos syndrome
- ORPHA:2596 Myopathy and diabetes mellitus
- OMIM:254960 Myopathy due to malate-aspartate shuttle defect
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:255140 Myopathy with giant abnormal mitochondria
- OMIM:620138 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
- OMIM:160570 Myopathy with storage of glycoproteins and glycosaminoglycans
- OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- OMIM:609500 Myopathy, autophagic vacuolar, infantile-onset
- OMIM:614807 Myopathy, centronuclear, 4
- OMIM:615959 Myopathy, centronuclear, 5
- OMIM:160150 Myopathy, centronuclear, autosomal dominant
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:612540 Myopathy, congenital, compton-north
- OMIM:619967 Myopathy, congenital, nonprogressive
- OMIM:618414 Myopathy, congenital, with fast-twitch (type II) fiber atrophy
- OMIM:610099 Myopathy, distal 3
- OMIM:160500 Myopathy, distal, 1
- OMIM:614065 Myopathy, distal, 4
- OMIM:617030 Myopathy, distal, 5
- OMIM:618655 Myopathy, distal, 6, adult onset
- OMIM:160300 Myopathy, distal, infantile-onset
- OMIM:614321 Myopathy, distal, Tateyama type
- OMIM:606768 Myopathy, distal, with anterior tibial onset
- OMIM:617158 Myopathy, distal, with rimmed vacuoles
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
- OMIM:254950 Myopathy, granulovacuolar lobular, with electrical myotonia
- OMIM:616209 Myopathy, isolated mitochondrial, autosomal dominant
- OMIM:600462 Myopathy, lactic acidosis, and sideroblastic anemia 1
- OMIM:613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
- OMIM:613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- OMIM:551000 Myopathy, mitochondrial, lethal infantile
- OMIM:619424 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- OMIM:608810 Myopathy, myofibrillar, 2, mfm2
- OMIM:609452 Myopathy, myofibrillar, 4
- OMIM:612954 Myopathy, myofibrillar, 6
- OMIM:617114 Myopathy, myofibrillar, 7
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:603689 Myopathy, myofibrillar, 9, with early respiratory failure
- OMIM:613869 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
- OMIM:608358 Myopathy, myosin storage, autosomal dominant
- OMIM:255160 Myopathy, myosin storage, autosomal recessive
- OMIM:300718 Myopathy, reducing body, X-linked, childhood-onset
- OMIM:300717 Myopathy, reducing body, X-linked, early-onset, severe
- OMIM:182920 Myopathy, spheroid body
- OMIM:160565 Myopathy, tubular aggregate, 1
- OMIM:615883 Myopathy, tubular aggregate, 2
- OMIM:616231 Myopathy, vacuolar, with CASQ1 aggregates
- OMIM:310440 Myopathy, X-linked, with excessive autophagy
- OMIM:300696 Myopathy, X-linked, with postural muscle atrophy
- OMIM:255600 Myosclerosis, autosomal recessive
- OMIM:609200 MYOTILINOPATHY
- OMIM:608390 Myotonia, potassium-aggravated
Code pathologie
Nom de la pathologie
- OMIM:310465 N syndrome
- OMIM:237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
- OMIM:161000 Naegeli-Franceschetti-Jadassohn syndrome
- ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome
- ORPHA:2614 Nail-patella syndrome
- OMIM:161200 Nail-Patella syndrome
- ORPHA:2613 Nail-patella-like renal disease
- OMIM:614250 Narcolepsy 7
- ORPHA:644 NARP syndrome
- ORPHA:141083 Nasolacrimal duct cyst
- ORPHA:168572 Native American myopathy
- ORPHA:542592 Necrobiosis lipoidica
- ORPHA:391673 Necrotizing enterocolitis
- ORPHA:199244 Nelson syndrome
- OMIM:617336 Nemaline myopathy 11, autosomal recessive
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- OMIM:161800 Nemaline myopathy 3
- OMIM:609273 Nemaline myopathy 6
- ORPHA:44 Neonatal adrenoleukodystrophy
- ORPHA:464370 Neonatal alloimmune neutropenia
- ORPHA:446 Neonatal hemochromatosis
- ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency
- ORPHA:398124 Neonatal lupus erythematosus
- ORPHA:417 Neonatal severe primary hyperparathyroidism
- ORPHA:94058 Neovascular glaucoma
- ORPHA:654 Nephroblastoma
- ORPHA:223 Nephrogenic diabetes insipidus
- ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
- OMIM:300539 Nephrogenic syndrome of inappropriate antidiuresis
- OMIM:167030 Nephrolithiasis, calcium oxalate
- OMIM:310468 Nephrolithiasis, type I
- OMIM:612286 Nephrolithiasis/osteoporosis, hypophosphatemic, 1
- OMIM:612287 Nephrolithiasis/osteoporosis, hypophosphatemic, 2
- OMIM:256100 Nephronophthisis 1
- OMIM:614377 Nephronophthisis 13
- OMIM:602088 Nephronophthisis 2
- OMIM:604387 Nephronophthisis 3
- OMIM:619468 Nephronophthisis-like nephropathy 2
- OMIM:602114 Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease
- ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome
- OMIM:256150 NEPHROSIALIDOSIS
- OMIM:256300 Nephrotic syndrome, type 1
- OMIM:616730 Nephrotic syndrome, type 11
- OMIM:616892 Nephrotic syndrome, type 12
- OMIM:617575 Nephrotic syndrome, type 14
- OMIM:617609 Nephrotic syndrome, type 15
- OMIM:617783 Nephrotic syndrome, type 16
- OMIM:618176 Nephrotic syndrome, type 17
- OMIM:618177 Nephrotic syndrome, type 18
- OMIM:618178 Nephrotic syndrome, type 19
- OMIM:600995 Nephrotic syndrome, type 2
- OMIM:301028 Nephrotic syndrome, type 20
- OMIM:619155 Nephrotic syndrome, type 22
- OMIM:619201 Nephrotic syndrome, type 23
- OMIM:610725 Nephrotic syndrome, type 3
- OMIM:614199 Nephrotic syndrome, type 5, with or without ocular abnormalities
- OMIM:614196 Nephrotic syndrome, type 6
- OMIM:615008 Nephrotic syndrome, type 7
- OMIM:615244 Nephrotic syndrome, type 8
- OMIM:615573 Nephrotic syndrome, type 9
- ORPHA:634 Netherton syndrome
- OMIM:256500 Netherton syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- OMIM:616038 Neu-Laxova syndrome 2
- OMIM:601634 Neural tube defects, folate-sensitive
- OMIM:256550 Neuraminidase deficiency
- ORPHA:635 Neuroblastoma
- OMIM:256700 Neuroblastoma, susceptibility to
- ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- OMIM:619259 Neurodegeneration with ataxia and late-onset optic atrophy
- OMIM:606159 Neurodegeneration with brain iron accumulation 3
- OMIM:614298 Neurodegeneration with brain iron accumulation 4
- OMIM:617917 Neurodegeneration with brain iron accumulation 8
- OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
- OMIM:620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive
- ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:618590 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
- OMIM:619922 Neurodevelopmental disorder with dystonia and seizures
- OMIM:618879 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
- OMIM:617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- OMIM:619908 Neurodevelopmental disorder with language delay and seizure
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- OMIM:619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
- OMIM:619685 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:617804 Neurodevelopmental disorder with severe motor impairment and absent language
- 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
- ORPHA:100079 Neuroendocrine neoplasm of appendix
- ORPHA:100082 Neuroendocrine tumor of anal canal
- ORPHA:100075 Neuroendocrine tumor of stomach
- ORPHA:100080 Neuroendocrine tumor of the colon
- ORPHA:100081 Neuroendocrine tumor of the rectum
- ORPHA:157846 Neuroferritinopathy
- ORPHA:1143 Neurogenic arthrogryposis multiplex congenita
- ORPHA:94093 Neuroleptic malignant syndrome
- OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- OMIM:618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures
- OMIM:137200 Neuromyotonia and axonal neuropathy, autosomal recessive
- OMIM:601223 Neuronal intestinal dysplasia, type B
- ORPHA:99811 Neuronal intestinal pseudoobstruction
- OMIM:600175 Neuronopathy, distal hereditary motor, type VIII
- OMIM:604484 Neuropathy, hereditary motor and sensory, Okinawa type
- OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:608654 Neuropathy, hereditary sensory and autonomic, type V
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:256840 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
- OMIM:602107 Neuropathy, hereditary thermosensitive
- OMIM:256870 Neuropathy, painful
- ORPHA:137596 Neurotrophic keratopathy
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- OMIM:610717 Neutral lipid storage disease with myopathy
- ORPHA:98908 Neutral lipid storage myopathy
- OMIM:162700 Neutropenia, chronic familial
- OMIM:202700 Neutropenia, severe congenital, 1, autosomal dominant
- 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:257150 Neutrophil actin dysfunction
- OMIM:162830 Neutrophilia, hereditary
- OMIM:608068 Neutrophilic dermatosis, acute febrile
- ORPHA:363558 New-onset refractory status epilepticus
- 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
- OMIM:613078 Nijmegen breakage syndrome-like disorder
- ORPHA:99825 Nipah virus disease
- OMIM:600092 Nivelon-Nivelon-Mabille syndrome
- 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:90695 Non-acquired panhypopituitarism
- ORPHA:1695 Non-distal trisomy 10q
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome
- ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- OMIM:605820 Nonaka myopathy
- OMIM:158250 NONDISJUNCTION
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:616564 Noonan syndrome 10
- OMIM:619087 Noonan syndrome 13
- OMIM:605275 Noonan syndrome 2
- OMIM:613224 Noonan syndrome 6
- OMIM:615355 Noonan syndrome 8
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM:170600 Normokalemic periodic paralysis
- ORPHA:649 Norrie disease
- OMIM:257350 Nuchal bleb, familial
Code pathologie
Nom de la pathologie
- ORPHA:99965 O'Sullivan-McLeod syndrome
- OMIM:601665 OBESITY
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency
- ORPHA: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
- ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:411641 Ocular cystinosis
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- ORPHA:2710 Oculodentodigital dysplasia
- OMIM:600268 Oculoectodermal syndrome
- OMIM:164310 Oculopharyngodistal myopathy 1
- OMIM:619473 Oculopharyngodistal myopathy 3
- OMIM:619790 Oculopharyngodistal myopathy 4
- OMIM:257970 Oculorenocerebellar syndrome
- OMIM:618440 Oculoskeletodental syndrome
- ORPHA:557003 Oculoskeletodental syndrome
- OMIM:257960 OCULOTRICHODYSPLASIA
- OMIM:300855 Ogden syndrome
- OMIM:249620 Ohdo syndrome
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- ORPHA:85410 Oligoarticular juvenile idiopathic arthritis
- ORPHA:2260 Oligomeganephronia
- OMIM:603554 Omenn syndrome
- ORPHA:39041 Omenn syndrome
- ORPHA:352540 Oncogenic osteomalacia
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- OMIM:619356 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
- OMIM:618550 Oocyte maturation defect 7
- OMIM:258470 Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
- OMIM:258480 Opsismodysplasia
- OMIM:311100 Optic atrophy--spastic paraplegia syndrome
- ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:664 Ornithine transcarbamylase deficiency
- OMIM:311250 Ornithine transcarbamylase deficiency, hyperammonemia due to
- OMIM:311200 Orofaciodigital syndrome I
- ORPHA:2750 Orofaciodigital syndrome type 1
- OMIM:258900 Orotic aciduria
- OMIM:223360 Orthostatic hypotension 1, due to DBH deficiency
- OMIM:618182 Orthostatic hypotension 2
- OMIM:604715 Orthostatic intolerance
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:602475 Ossification of the posterior longitudinal ligament of spine
- ORPHA:2764 Osteochondritis dissecans
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- ORPHA:564003 Osteochondrosis of the metatarsal bone
- ORPHA:563991 Osteochondrosis of the tarsal bone
- ORPHA:666 Osteogenesis imperfecta
- OMIM:166210 Osteogenesis imperfecta, type II
- OMIM:610968 Osteogenesis imperfecta, type XI
- OMIM:619795 Osteogenesis imperfecta, type XXII
- ORPHA:2777 Osteomesopyknosis
- OMIM:619377 Osteootohepatoenteric syndrome
- OMIM:600329 Osteopetrosis and infantile neuroaxonal dystrophy
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:607634 Osteopetrosis, autosomal dominant 1
- OMIM:166600 Osteopetrosis, autosomal dominant 2
- OMIM:259700 Osteopetrosis, autosomal recessive 1
- OMIM:259730 Osteopetrosis, autosomal recessive 3
- OMIM:259720 Osteopetrosis, autosomal recessive 5
- OMIM:612301 Osteopetrosis, autosomal recessive 7
- OMIM:259750 Osteoporosis, juvenile
- ORPHA:2788 Osteoporosis-pseudoglioma syndrome
- ORPHA:668 Osteosarcoma
- ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- OMIM:615198 Osteosclerotic metaphyseal dysplasia
- ORPHA:314473 Ovarian fibroma
- ORPHA:314478 Ovarian fibrothecoma
- ORPHA:64739 Ovarian hyperstimulation syndrome
- ORPHA:3203 Overhydrated hereditary stomatocytosis
- OMIM:185000 Overhydrated hereditary stomatocytosis
- ORPHA:206572 Overlap myositis
- ORPHA:31 Oxoglutaric aciduria
Code pathologie
Nom de la pathologie
- OMIM:260100 Pa polymorphism of alpha-2-globulin
- ORPHA:2796 Pachydermoperiostosis
- OMIM:301025 Paganini-Miozzo syndrome
- OMIM:602080 Paget disease of bone 2, early-onset
- OMIM:167250 Paget disease of bone 3
- OMIM:606263 Paget disease of bone 4
- OMIM:239000 Paget disease of bone 5, juvenile-onset
- OMIM:616833 Paget disease of bone 6
- OMIM:601803 Pallister-Killian syndrome
- OMIM:615225 Palmoplantar carcinoma, multiple self-healing
- OMIM:610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal
- OMIM:144200 Palmoplantar keratoderma, epidermolytic
- 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
- 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:95513 Panhypophysitis
- ORPHA:97336 Panner disease
- ORPHA:90159 Panniculitis-induced localized lipodystrophy
- ORPHA:157850 Pantothenate kinase-associated neurodegeneration
- ORPHA:251915 Papillary tumor of the pineal region
- OMIM:120330 Papillorenal syndrome
- ORPHA:158008 Papular xanthoma
- OMIM:115310 Paragangliomas 4
- ORPHA:684 Paramyotonia congenita of Von Eulenburg
- OMIM:168820 Paraoxonase 1
- OMIM:608266 Parathyroid carcinoma
- ORPHA:143 Parathyroid carcinoma
- ORPHA:567983 Parenteral nutrition-associated cholestasis
- ORPHA:90307 Parkes Weber syndrome
- OMIM:612953 Parkinson disease 14, autosomal recessive
- OMIM:613135 Parkinsonism-Dystonia, infantile, 1
- OMIM:618049 Parkinsonism-Dystonia, infantile, 2
- ORPHA:90035 Paroxysmal cold hemoglobinuria
- ORPHA:157835 Paroxysmal hemicrania
- OMIM:300818 Paroxysmal nocturnal hemoglobinuria
- ORPHA:447 Paroxysmal nocturnal hemoglobinuria
- OMIM:615399 Paroxysmal nocturnal hemoglobinuria 2
- ORPHA:90797 Partial androgen insensitivity syndrome
- OMIM:601466 Patent ductus venosus
- ORPHA:251004 Paternal uniparental disomy of chromosome 1
- ORPHA:96191 Paternal uniparental disomy of chromosome 6
- ORPHA:261524 Paternal uniparental disomy of chromosome X
- ORPHA:93126 Pauci-immune glomerulonephritis
- ORPHA:439822 PDE4D haploinsufficiency syndrome
- 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:270300 Peeling skin syndrome 1
- OMIM:260565 Peho syndrome
- ORPHA:2836 PEHO syndrome
- OMIM:617507 Peho-Like syndrome
- OMIM:169400 Pelger-Huet anomaly
- OMIM:260650 Pellagra-Like syndrome
- OMIM:274600 Pendred syndrome
- ORPHA:49 Penile agenesis
- ORPHA:2843 Pentosuria
- OMIM:260800 PENTOSURIA
- OMIM:142680 Periodic fever, familial, autosomal dominant
- OMIM:150550 Periodic fever, immunodeficiency, and thrombocytopenia syndrome
- OMIM:614674 Periodic fever, menstrual cycle-dependent
- ORPHA:563 Peripartum cardiomyopathy
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- OMIM:614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
- ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- OMIM:267000 Perlman syndrome
- ORPHA:2849 Perlman syndrome
- ORPHA:226292 Permanent congenital hypothyroidism
- ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- OMIM:170900 Pernicious anemia
- ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:264470 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:614883 Peroxisome biogenesis disorder 11A (Zellweger)
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger)
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:601539 Peroxisome biogenesis disorder 1B
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:202370 Peroxisome biogenesis disorder 2B
- OMIM:266510 Peroxisome biogenesis disorder 3B
- OMIM:614863 Peroxisome biogenesis disorder 4B
- OMIM:614866 Peroxisome biogenesis disorder 5A (Zellweger)
- OMIM:614867 Peroxisome biogenesis disorder 5B
- OMIM:614872 Peroxisome biogenesis disorder 7A (zellweger)
- OMIM:614876 Peroxisome biogenesis disorder 8A (Zellweger)
- OMIM:614877 Peroxisome biogenesis disorder 8B
- OMIM:616138 Perrault syndrome 5
- OMIM:606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS
- ORPHA:42642 PFAPA syndrome
- ORPHA:443811 PGM3-CDG
- ORPHA:209959 Phacoanaphylactic uveitis
- ORPHA:2874 Phakomatosis pigmentokeratotica
- OMIM:606232 Phelan-Mcdermid syndrome
- OMIM:261590 Phenformin 4-hydroxylation
- OMIM:261600 Phenylketonuria
- ORPHA:716 Phenylketonuria
- OMIM:171300 PHEOCHROMOCYTOMA
- OMIM:171420 Pheochromocytoma-Islet cell tumor syndrome
- ORPHA:2879 Phocomelia, Schinzel type
- OMIM:261650 Phosphoenolpyruvate carboxykinase 2, mitochondrial
- OMIM:261680 Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- OMIM:300653 Phosphoglycerate kinase 1 deficiency
- OMIM:261670 Phosphoglycerate mutase, muscle, deficiency of
- OMIM:615011 Phosphohydroxylysinuria
- ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:300661 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:610992 Phosphoserine aminotransferase deficiency
- ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form
- OMIM:172500 Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebraldysfunction
- OMIM:609049 Pierson syndrome
- OMIM:301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked
- OMIM:615830 Pigmented nodular adrenocortical disease, primary, 4
- OMIM:262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
- ORPHA:251912 Pineocytoma
- OMIM:219090 Pituitary adenoma 4, ACTH-secreting, somatic
- ORPHA:95613 Pituitary apoplexy
- ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome
- OMIM:262650 Pituitary dwarfism IV
- ORPHA:99725 Pituitary gigantism
- OMIM:262600 Pituitary hormone deficiency, combined, 2
- OMIM:262700 Pituitary hormone deficiency, combined, 4
- OMIM:613986 Pituitary hormone deficiency, combined, 6
- ORPHA:95496 Pituitary stalk interruption syndrome
- ORPHA:521426 PLAA-associated neurodevelopmental disorder
- ORPHA:439167 Placental insufficiency
- ORPHA:707 Plague
- OMIM:614101 Plasma fibronectin deficiency
- OMIM:217090 Plasminogen deficiency, type I
- OMIM:262875 Platelet prostacyclin receptor defect
- OMIM:614278 Platelet-Activating factor acetylhydrolase deficiency
- ORPHA:85166 Platyspondylic dysplasia, Torrance type
- 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:723 Pneumocystosis
- 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:263200 Polycystic kidney disease 4 with or without polycystic liver disease
- OMIM:174050 Polycystic liver disease 1 with or without kidney cysts
- OMIM:184700 Polycystic ovary syndrome 1
- ORPHA:180229 Polyembryoma
- ORPHA:453533 Polyendocrine-polyneuropathy syndrome
- OMIM:616113 Polyendocrine-Polyneuropathy syndrome
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:616199 Polyglucosan body myopathy 2
- ORPHA:732 Polymyositis
- ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- OMIM:263600 Polysaccharide, storage of unusual
- ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24
- ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11
- ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14
- ORPHA:99748 Pontiac fever
- OMIM:618810 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
- OMIM:618606 Pontocerebellar hypoplasia, type 13
- OMIM:611523 Pontocerebellar hypoplasia, type 6
- OMIM:615809 Pontocerebellar hypoplasia, type 9
- OMIM:175750 Popliteal cyst
- 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
- ORPHA:95619 Post-traumatic pituitary deficiency
- ORPHA:97349 Postencephalitic parkinsonism
- ORPHA:98973 Posterior polymorphous corneal dystrophy
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:279947 Postorgasmic illness syndrome
- ORPHA:163921 Posttransplant acute limbic encephalitis
- 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: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:398073 Prader-Willi-like syndrome
- OMIM:601759 Preaxial hallucal polydactyly
- ORPHA:275555 Preeclampsia
- OMIM:189800 Preeclampsia/eclampsia 1
- OMIM:612423 Prekallikrein deficiency
- OMIM:601811 Premature aging syndrome, Okamoto type
- OMIM:212790 Premature centromere division
- OMIM:176430 Premature chromatid separation trait
- OMIM:615474 Primary aldosteronism, seizures, and neurologic abnormalities
- 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:48686 Primary effusion lymphoma
- ORPHA:90026 Primary erythromelalgia
- ORPHA:3337 Primary Fanconi renotubular syndrome
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:416 Primary hyperoxaluria
- ORPHA:93598 Primary hyperoxaluria type 1
- ORPHA:93599 Primary hyperoxaluria type 2
- ORPHA:93600 Primary hyperoxaluria type 3
- ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:90970 Primary lipodystrophy
- ORPHA:54370 Primary membranoproliferative glomerulonephritis
- ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- ORPHA:824 Primary myelofibrosis
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- ORPHA:2257 Primary pulmonary hypoplasia
- 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
- OMIM:259050 Primrose syndrome
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- OMIM:264080 Progesterone resistance
- ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency
- ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type
- OMIM:157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- OMIM:609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
- OMIM:609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- OMIM:610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
- OMIM: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:615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- ORPHA:172 Progressive familial intrahepatic cholestasis
- ORPHA:158022 Progressive nodular histiocytosis
- ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood
- OMIM:170100 Prolidase deficiency
- OMIM:225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
- OMIM:312060 Properdin deficiency, X-linked
- 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:618048 Proteasome-Associated autoinflammatory syndrome 2
- OMIM:617591 Proteasome-Associated autoinflammatory syndrome 3
- OMIM:619183 Proteasome-associated autoinflammatory syndrome 4
- OMIM:619175 Proteasome-associated autoinflammatory syndrome 5
- OMIM:618884 Proteinuria, chronic benign
- OMIM:308990 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
- ORPHA:744 Proteus syndrome
- ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia
- OMIM:177000 Protoporphyria, erythropoietic, 1
- OMIM:300752 Protoporphyria, erythropoietic, X-linked
- ORPHA:401768 Proximal myopathy with extrapyramidal signs
- OMIM:600706 Proximal myopathy with focal depletion of mitochondria
- ORPHA:47159 Proximal renal tubular acidosis
- ORPHA:1762 Proximal Xq28 duplication syndrome
- ORPHA:544469 PRUNE1-related neurological syndrome
- OMIM:618886 Pseudo-Torch syndrome 3
- OMIM:264180 Pseudodiastrophic dysplasia
- OMIM:264300 Pseudohermaphroditism, male, with gynecomastia
- OMIM:609153 Pseudohyperkalemia, familial, 2, due to red cell leak
- ORPHA:757 Pseudohypoaldosteronism type 2
- OMIM:177735 Pseudohypoaldosteronism, type I, autosomal dominant
- OMIM:264350 Pseudohypoaldosteronism, type I, autosomal recessive
- OMIM:145260 Pseudohypoaldosteronism, type II
- OMIM:614491 Pseudohypoaldosteronism, type IIB
- OMIM:614492 Pseudohypoaldosteronism, type IIC
- OMIM:614495 Pseudohypoaldosteronism, type IID
- OMIM:614496 Pseudohypoaldosteronism, type IIE
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:94090 Pseudohypoparathyroidism type 2
- ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy
- OMIM:103580 Pseudohypoparathyroidism, type IA
- OMIM:603233 Pseudohypoparathyroidism, type IB
- OMIM:612462 Pseudohypoparathyroidism, type IC
- OMIM:203330 Pseudohypoparathyroidism, type II
- ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type
- ORPHA:79445 Pseudopseudohypoparathyroidism
- OMIM:264500 Pseudouridinuria and mental defect
- OMIM:264600 Pseudovaginal perineoscrotal hypospadias
- OMIM:614204 Psoriasis 14, pustular
- ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency
- ORPHA:60025 Pulmonary alveolar microlithiasis
- OMIM:618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia
- ORPHA:2038 Pulmonary arteriovenous malformation
- ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome
- ORPHA:64741 Pulmonary blastoma
- ORPHA:199241 Pulmonary capillary hemangiomatosis
- OMIM:178400 Pulmonary edema of mountaineers
- OMIM:619767 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- OMIM:178500 Pulmonary fibrosis, idiopathic
- ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
- ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:254854 Pure mitochondrial myopathy
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- OMIM:265850 PYGMY
- ORPHA:3003 Pyknoachondrogenesis
- 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:764 Pyomyositis
- 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:79243 Pyruvate dehydrogenase E1-alpha deficiency
- OMIM:312170 Pyruvate dehydrogenase e1-alpha deficiency
- OMIM:614111 Pyruvate dehydrogenase E1-beta deficiency
- ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency
- ORPHA:79244 Pyruvate dehydrogenase E2 deficiency
- OMIM:245348 Pyruvate dehydrogenase E2 deficiency
- ORPHA:2394 Pyruvate dehydrogenase E3 deficiency
- OMIM:245349 Pyruvate dehydrogenase e3-binding protein deficiency
- ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency
- ORPHA:79246 Pyruvate dehydrogenase phosphatase 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
- ORPHA:769 Rabson-Mendenhall syndrome
- OMIM:179280 Radial-Renal syndrome
- ORPHA:3015 Radio-renal syndrome
- OMIM:616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- OMIM:259775 Raine syndrome
- OMIM:613658 Rajab interstitial lung disease with brain calcifications
- OMIM:619013 Rajab interstitial lung disease with brain calcifications 2
- ORPHA:3019 Ramon syndrome
- ORPHA:1051 Ramos-Arroyo syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- 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:1929 Rasmussen subacute encephalitis
- ORPHA:31205 Rat-bite fever
- ORPHA:29207 Reactive arthritis
- ORPHA:94125 Recessive mitochondrial ataxia 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:86839 Refractory anemia with excess blasts
- 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
- OMIM:161900 Renal failure, progressive, with hypertension
- OMIM:233100 Renal glucosuria
- OMIM:191830 Renal hypodysplasia/aplasia 1
- ORPHA:93101 Renal hypoplasia
- ORPHA:97362 Renal hypoplasia, bilateral
- ORPHA:71273 Renal nutcracker syndrome
- OMIM:267200 Renal tubular acidosis III
- OMIM:179800 Renal tubular acidosis, distal, autosomal dominant
- OMIM:611590 Renal tubular acidosis, distal, with hemolytic anemia
- OMIM:611555 Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies
- OMIM:267300 Renal tubular acidosis, distal, with progressive nerve deafness
- OMIM:179830 Renal tubular acidosis, proximal
- OMIM:604278 Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation
- OMIM:560000 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia
- ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema
- ORPHA:3242 Renpenning syndrome
- ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome
- ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome
- OMIM:267450 Respiratory distress syndrome in premature infants
- OMIM:267500 Reticular dysgenesia
- ORPHA:33355 Reticular dysgenesis
- OMIM:618863 Retinal dystrophy with leukodystrophy
- OMIM:267900 Retinal telangiectasia and hypogammaglobulinemia
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- OMIM:180080 Retinal venous beading
- ORPHA:791 Retinitis pigmentosa
- OMIM:600138 Retinitis pigmentosa 11
- OMIM:600059 Retinitis pigmentosa 13
- OMIM:613750 Retinitis pigmentosa 27
- OMIM:612943 Retinitis pigmentosa 42
- OMIM:613582 Retinitis pigmentosa 57
- OMIM:613861 Retinitis pigmentosa 59
- OMIM:617123 Retinitis pigmentosa 76
- OMIM:617304 Retinitis pigmentosa 77
- OMIM:617433 Retinitis pigmentosa 78
- OMIM:618173 Retinitis pigmentosa 83
- OMIM:618613 Retinitis pigmentosa 86
- OMIM:618826 Retinitis pigmentosa 88
- OMIM:180104 Retinitis pigmentosa 9
- OMIM:619007 Retinitis pigmentosa 90
- OMIM:616959 Retinitis pigmentosa and erythrocytic microcytosis
- OMIM:268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
- ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- ORPHA:52427 Retinitis punctata albescens
- OMIM:268040 Retinohepatoendocrinologic syndrome
- ORPHA:778 Rett syndrome
- ORPHA:284388 Reversible cerebral vasoconstriction syndrome
- OMIM:268130 Revesz syndrome
- OMIM:613471 Reynolds syndrome
- ORPHA:779 Reynolds syndrome
- ORPHA:71275 Rh deficiency syndrome
- ORPHA:69077 Rhabdoid tumor
- ORPHA:3099 Rheumatic fever
- OMIM:180300 Rheumatoid arthritis
- ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
- OMIM:615026 Riboflavin deficiency
- OMIM:608611 Ribose 5-phosphate isomerase deficiency
- ORPHA:1399 Richards-Rundle syndrome
- OMIM:277440 Rickets, vitamin D-resistant, type IIA
- OMIM:611943 Riddle syndrome
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- OMIM:614498 Rigidity and multifocal seizure syndrome, lethal neonatal
- ORPHA:217335 RIN2 syndrome
- ORPHA:1438 Ring chromosome 10 syndrome
- ORPHA:1445 Ring chromosome 21 syndrome
- ORPHA:1446 Ring chromosome 22 syndrome
- ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy
- OMIM:268300 Roberts syndrome
- OMIM:268315 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- ORPHA:353298 Roifman syndrome
- ORPHA:101016 Romano-Ward syndrome
- ORPHA:158014 Rosaï-Dorfman disease
- ORPHA:2909 Rothmund-Thomson syndrome
- ORPHA:221008 Rothmund-Thomson syndrome type 1
- ORPHA:221016 Rothmund-Thomson syndrome type 2
- ORPHA:3111 Rotor syndrome
- ORPHA:3121 Ruvalcaba syndrome
Code pathologie
Nom de la pathologie
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- ORPHA:3124 Saccharopinuria
- OMIM:268700 SACCHAROPINURIA
- ORPHA:300493 Sagliker syndrome
- OMIM:611705 Salih myopathy
- OMIM:604369 Salla disease
- 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:2323 Sanjad-Sakati syndrome
- ORPHA:793 SAPHO syndrome
- ORPHA:797 Sarcoidosis
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- OMIM:612387 Sarcoidosis, susceptibility to, 2
- ORPHA:3129 Sarcosinemia
- OMIM:268900 SARCOSINEMIA
- OMIM:600705 Satoyoshi syndrome
- OMIM:181180 Say syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:269000 Sc phocomelia syndrome
- OMIM:181270 Scalp-Ear-Nipple syndrome
- ORPHA:2036 Scalp-ear-nipple syndrome
- OMIM:300695 Scapuloperoneal myopathy, X-linked dominant
- ORPHA:449280 Scedosporiosis
- ORPHA:93474 Scheie syndrome
- ORPHA:59298 Schilder disease
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:163200 Schimmelpenning-Feuerstein-Mims syndrome
- OMIM:609241 Schindler disease, type I
- OMIM:600850 Schizophrenia 4
- OMIM:269250 Schneckenbecken dysplasia
- ORPHA:3144 Schneckenbecken dysplasia
- ORPHA:37748 Schnitzler 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:140286 Secondary hypoparathyroidism due to impaired parathormon secretion
- ORPHA:90363 Secondary intestinal lymphangiectasia
- ORPHA:95427 Secondary short bowel syndrome
- ORPHA:99857 Secondary syringomyelia
- OMIM:269650 Secretory component deficiency
- OMIM:617213 Sedoheptulokinase deficiency
- OMIM:605407 Segawa syndrome, autosomal recessive
- OMIM:612780 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- ORPHA:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome
- ORPHA:331235 Selective IgM deficiency
- ORPHA:220386 Semilobar holoprosencephaly
- OMIM:212350 Sengers syndrome
- ORPHA:84081 Senior-Boichis syndrome
- OMIM:266900 Senior-Loken syndrome 1
- 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:43116 Serotonin syndrome
- ORPHA:140896 Severe acute respiratory syndrome
- ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency
- ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency
- 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:300400 Severe combined immunodeficiency, X-linked
- ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts
- ORPHA:171430 Severe congenital nemaline myopathy
- ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy
- ORPHA:2715 Severe oculo-renal-cerebellar syndrome
- ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:468726 Severe primary trimethylaminuria
- 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
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- ORPHA:314811 Short stature due to GHSR deficiency
- ORPHA:314802 Short stature due to partial GHR deficiency
- ORPHA:140941 Short stature due to primary acid-labile subunit deficiency
- OMIM:601350 Short stature syndrome, Brussels type
- OMIM:619489 Short stature, Dauber-Argente type
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
- ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency
- 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:616546 Short-Rib thoracic dysplasia 14 with polydactyly
- OMIM:614376 Short-Rib thoracic dysplasia 5 with or without polydactyly
- OMIM:263520 Short-Rib thoracic dysplasia 6 with or without polydactyly
- OMIM:614091 Short-Rib thoracic dysplasia 7 with or without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- ORPHA:314795 SHOX-related short stature
- ORPHA:811 Shwachman-Diamond syndrome
- OMIM:260400 Shwachman-Diamond syndrome 1
- ORPHA:812 Sialidosis type 1
- ORPHA:87876 Sialidosis type 2
- OMIM:269921 Sialuria
- ORPHA:3166 Sialuria
- OMIM:603903 Sickle cell anemia
- ORPHA:232 Sickle cell anemia
- OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- ORPHA:813 Silver-Russell syndrome
- OMIM:180860 Silver-Russell syndrome 1
- OMIM:618905 Silver-Russell syndrome 2
- 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
- ORPHA:91139 Simple cryoglobulinemia
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- ORPHA:97337 Sinding-Larsen-Johansson disease
- OMIM:182250 Singleton-Merten syndrome 1
- OMIM:210250 Sitosterolemia 1
- OMIM:618666 Sitosterolemia 2
- OMIM:270150 Sjogren syndrome
- OMIM:618870 Skeletal dysplasia, mild, with joint laxity and advanced bone age
- ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- 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
- OMIM:182410 Sneddon syndrome
- OMIM:270425 Sodium-Potassium-Atpase activity of red cell
- ORPHA:97230 Solar urticaria
- ORPHA:83468 Solitary bone cyst
- ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma
- OMIM:147250 Solitary median maxillary central incisor
- OMIM:109270 Solute carrier family 4 (anion exchanger), member 1
- ORPHA:314769 Somatomammotropinoma
- ORPHA:97283 Somatostatinoma
- OMIM:618912 Sorbitol dehydrogenase deficiency with peripheral neuropathy
- ORPHA:821 Sotos syndrome
- OMIM:117550 Sotos syndrome
- OMIM:614487 Spastic ataxia 5, autosomal recessive
- ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome
- OMIM:609727 Spastic paraplegia 29, autosomal dominant
- OMIM:270800 Spastic paraplegia 5A, autosomal recessive
- ORPHA:99013 Spastic paraplegia type 7
- ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome
- OMIM:618598 Spastic tetraplegia and axial hypotonia, progressive
- OMIM:616859 Spasticity, childhood-onset, with hyperglycinemia
- OMIM:245480 Specific granule deficiency
- OMIM:309120 SPERMATOGENIC FAILURE, X-LINKED, 2
- OMIM:182900 Spherocytosis, type 1
- OMIM:616649 Spherocytosis, type 2
- OMIM:612653 Spherocytosis, type 4
- OMIM:182950 Spinal arachnoiditis
- OMIM:159950 Spinal muscular atrophy with progressive myoclonic epilepsy
- OMIM:615048 Spinal muscular atrophy, Jokela type
- OMIM:615290 Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant
- OMIM:271225 Spinal muscular atrophy, type I, with congenital bone fractures
- OMIM:301830 Spinal muscular atrophy, X-linked 2
- ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- OMIM:610246 Spinocerebellar ataxia 28
- ORPHA:98757 Spinocerebellar ataxia type 3
- ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1
- ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2
- OMIM:606002 Spinocerebellar ataxia, autosomal recessive 1
- OMIM:616354 Spinocerebellar ataxia, autosomal recessive 20
- OMIM:616949 Spinocerebellar ataxia, autosomal recessive 23
- OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30
- OMIM:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- OMIM:618387 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
- OMIM:271310 Spinocerebellar degeneration and corneal dystrophy
- OMIM:271322 Spinocerebellar degeneration with slow eye movements
- 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:93357 SPONASTRIME dysplasia
- OMIM:183840 Spondyloarthropathy, susceptibility to, 2
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- OMIM:271510 Spondyloepimetaphyseal dysplasia, Sponastrime type
- ORPHA:93284 Spondyloepiphyseal dysplasia tarda
- OMIM:183850 Spondyloepiphyseal dysplasia with punctate corneal dystrophy
- OMIM:184095 Spondyloepiphyseal dysplasia, Maroteaux type
- ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type
- ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- OMIM:605822 Spondyloocular syndrome
- ORPHA:29822 Spontaneous periodic hypothermia
- ORPHA:204 Sporadic Creutzfeldt-Jakob disease
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- OMIM:618156 Squalene synthase deficiency
- ORPHA:324737 SRD5A3-CDG
- ORPHA:36238 Staphylococcal necrotizing pneumonia
- ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- ORPHA:36426 Stevens-Johnson syndrome
- ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- ORPHA:3198 Stiff person spectrum disorder
- ORPHA:2833 Stiff skin syndrome
- OMIM:184850 Stiff-Person syndrome
- ORPHA:3199 Stimmler syndrome
- OMIM:615934 STING-associated vasculopathy, infantile-onset
- OMIM:608885 Stomatin-Deficient cryohydrocytosis with neurologic defects
- OMIM:185070 Stormorken syndrome
- OMIM:500003 Striatonigral degeneration, infantile, mitochondrial
- OMIM:617478 Structural heart defects and renal anomalies syndrome
- ORPHA:370921 STT3A-CDG
- ORPHA:370924 STT3B-CDG
- OMIM:601559 Stuve-Wiedemann syndrome
- ORPHA:3206 Stüve-Wiedemann syndrome
- ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- ORPHA:48377 Subcorneal pustular dermatosis
- ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma
- OMIM:600335 Succinic acidemia
- OMIM:271980 Succinic semialdehyde dehydrogenase deficiency
- ORPHA:22 Succinic semialdehyde dehydrogenase deficiency
- OMIM:245050 Succinyl CoA:3-oxoacid CoA transferase deficiency
- OMIM:222900 Sucrase-isomaltase deficiency, congenital
- OMIM:272000 Sucrosuria, hiatus hernia and mental retardation
- OMIM:617222 Sudden cardiac failure, infantile
- OMIM:272120 Sudden infant death syndrome
- OMIM:608800 Sudden infant death with dysgenesis of the testes syndrome
- ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome
- OMIM:619221 Sulfide:quinone oxidoreductase deficiency
- OMIM:272300 SULFOCYSTEINURIA
- ORPHA:57145 SUNCT syndrome
- ORPHA:455 Superficial epidermolytic ichthyosis
- ORPHA:247245 Superficial siderosis
- ORPHA:3243 Sweet syndrome
- ORPHA:1570 Symbrachydactyly of hands and feet
- ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- ORPHA:98915 Synaptic congenital myasthenic syndromes
- ORPHA:84064 Syndromic diarrhea
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:188 Systemic capillary leak syndrome
- OMIM:301080 Systemic lupus erythematosus 17
- 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
- OMIM:276200 T-SUBSTANCE ANOMALY
- ORPHA:3287 Takayasu arteritis
- OMIM:616737 Takenouchi-Kosaki syndrome
- ORPHA:66529 Tako-Tsubo cardiomyopathy
- OMIM:205400 Tangier disease
- ORPHA:31150 Tangier disease
- ORPHA:845 Tay-Sachs disease
- OMIM:272800 Tay-Sachs disease
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:615506 Telangiectasia, hereditary hemorrhagic, type 5
- ORPHA:284227 TEMPI syndrome
- ORPHA:254516 Temple syndrome
- OMIM:616222 Temple syndrome
- OMIM:187360 Temporal arteritis
- OMIM:616260 Tenorio syndrome
- ORPHA:66627 Tenosynovial giant cell tumor
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- OMIM:273300 Testicular tumor, somatic
- ORPHA:3299 Tetanus
- OMIM:273390 Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities
- OMIM:273400 Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities
- ORPHA:3305 Tetraploidy
- ORPHA:3312 Thalidomide embryopathy
- ORPHA:2655 Thanatophoric dysplasia
- ORPHA:1860 Thanatophoric dysplasia type 1
- ORPHA:93274 Thanatophoric dysplasia type 2
- OMIM:273680 Thanatophoric dysplasia, glasgow variant
- OMIM:607483 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
- OMIM:613710 Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)
- OMIM:614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
- ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome
- OMIM:249270 Thiamine-Responsive megaloblastic anemia syndrome
- OMIM:610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
- ORPHA:97330 Thoracic outlet syndrome
- OMIM:273770 THREONINEMIA
- OMIM:313900 Thrombocytopenia 1
- ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia
- OMIM:314000 Thrombocytopenia with elevated serum IgA and renal disease
- ORPHA:54057 Thrombotic thrombocytopenic purpura
- OMIM:274150 Thrombotic thrombocytopenic purpura, hereditary
- ORPHA:83471 Thymic aplasia
- ORPHA:99868 Thymic carcinoma
- ORPHA:97289 Thymic neuroendocrine tumor
- ORPHA:100100 Thymic tumor
- OMIM:274265 Thymic-Renal-Anal-Lung dysplasia
- ORPHA:99867 Thymoma
- OMIM:619855 Thyroid hormone metabolism, abnormal, 2
- OMIM:188570 Thyroid hormone resistance, generalized, autosomal dominant
- OMIM:274300 Thyroid hormone resistance, generalized, autosomal recessive
- OMIM:274900 Thyroid hormonogenesis, genetic defect in, 5
- ORPHA:79102 Thyrotoxic periodic paralysis
- OMIM:188580 Thyrotoxic periodic paralysis, susceptibility to, 1
- OMIM:613239 Thyrotoxic periodic paralysis, susceptibility to, 2
- ORPHA:609 Tibial muscular dystrophy
- ORPHA:297 Tick-borne encephalitis
- OMIM:275190 Tiglic acidemia
- OMIM:601005 Timothy syndrome
- OMIM:275240 Tinea imbricata, susceptibility to
- ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy
- OMIM:313500 Tooth agenesis, selective, X-linked, 1
- ORPHA:537 Toxic epidermal necrolysis
- ORPHA:3348 Tracheobronchopathia osteochondroplastica
- ORPHA:101028 Transaldolase deficiency
- ORPHA:859 Transcobalamin deficiency
- OMIM:193090 Transcobalamin I 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:103909 Trehalase deficiency
- OMIM:190200 Tremor of intention, ataxia, and lipofuscinosis
- OMIM:275370 Tricarboxylic acid cycle, defect of
- ORPHA:863 Trichinellosis
- OMIM:222470 Trichohepatoenteric syndrome 1
- OMIM:614602 Trichohepatoenteric syndrome 2
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:616395 Trichothiodystrophy 3, photosensitive
- OMIM:300953 Trichothiodystrophy 5, nonphotosensitive
- ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8
- OMIM:602079 Trimethylaminuria
- OMIM:618805 Triokinase and FMN cyclase deficiency syndrome
- ORPHA:3376 Triploidy
- ORPHA:1699 Trisomy 12p
- ORPHA:3378 Trisomy 13
- OMIM:601161 Trisomy 18-like syndrome
- ORPHA:261344 Trisomy 1q
- ORPHA:261318 Trisomy 20p
- ORPHA:1738 Trisomy 4p
- ORPHA:1742 Trisomy 5p
- ORPHA:1752 Trisomy 8q
- ORPHA:3375 Trisomy X
- OMIM:608189 Tropical calcific pancreatitis
- ORPHA:75565 Tropical endomyocardial fibrosis
- ORPHA:103918 Tropical pancreatitis
- ORPHA:3384 Truncus arteriosus
- OMIM:276100 Tryptophanuria with dwarfism
- ORPHA:91347 TSH-secreting pituitary adenoma
- ORPHA:3389 Tuberculosis
- OMIM:191100 Tuberous sclerosis-1
- OMIM:162000 Tubulointerstitial kidney disease, autosomal dominant, 1
- OMIM:174000 Tubulointerstitial kidney disease, autosomal dominant, 2
- OMIM:613092 Tubulointerstitial kidney disease, autosomal dominant, 4
- OMIM:617056 Tubulointerstitial kidney disease, autosomal dominant, 5
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- OMIM:607665 Tubulointerstitial nephritis with uveitis
- ORPHA:3392 Tularemia
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:211900 Tumoral calcinosis, hyperphosphatemic, familial, 1
- OMIM:617993 Tumoral calcinosis, hyperphosphatemic, familial, 2
- OMIM:617994 Tumoral calcinosis, hyperphosphatemic, familial, 3
- OMIM:610455 Tumoral calcinosis, normophosphatemic, familial
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:238600 Type I hyperlipoproteinemia
- ORPHA:99745 Typhoid
- ORPHA:171436 Typical nemaline myopathy
- OMIM:276600 Tyrosine transaminase deficiency
- ORPHA:882 Tyrosinemia type 1
- ORPHA:28378 Tyrosinemia type 2
- OMIM:276700 Tyrosinemia, type I
- OMIM:276710 Tyrosinemia, type III
- OMIM:276800 TYROSINOSIS
Code pathologie
Nom de la pathologie
- ORPHA:3404 Ulbright-Hodes syndrome
- OMIM:254090 Ullrich congenital muscular dystrophy 1
- OMIM:191420 Ulna metaphyseal dysplasia syndrome
- OMIM:276822 Ulnar agenesis and endocardial fibroelastosis
- ORPHA:3138 Ulnar-mammary syndrome
- ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome
- ORPHA:98827 Unclassified myelodysplastic syndrome
- ORPHA:2023 Undifferentiated pleomorphic sarcoma
- ORPHA:488 Urachal cyst
- ORPHA:3409 Urban-Rogers-Meyer syndrome
- ORPHA:94059 Uremic pruritus
- OMIM:266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to
- OMIM:618477 URIDINE-CYTIDINEURIA
- OMIM:276880 Urocanase deficiency
- ORPHA:210128 Urocanic aciduria
- OMIM:191700 Urolithiasis, uric acid, autosomal dominant
- OMIM:300280 Uruguay faciocardiomusculoskeletal syndrome
- OMIM:600630 UV-sensitive syndrome 1
- OMIM:614621 UV-sensitive syndrome 2
- OMIM:614640 UV-sensitive syndrome 3
- ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability
Code pathologie
Nom de la pathologie
- ORPHA:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
- OMIM:601846 Vacuolar neuromyopathy
- OMIM:277100 VALINEMIA
- ORPHA:3417 Van den Bosch syndrome
- ORPHA:314652 Variant ABeta2M amyloidosis
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:606893 Vascular malformation, primary intraosseous
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192310 Vasculitis, lymphocytic, nodular
- OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy
- OMIM:192430 Velocardiofacial syndrome
- ORPHA:505395 Ventilator-induced diaphragmatic dysfunction
- OMIM:192800 Vertebral fusion, posterior lumbosacral, with blepharoptosis
- OMIM:617982 Ververi-Brady syndrome
- ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency
- OMIM:201475 Very long-chain acyl-CoA dehydrogenase deficiency
- OMIM:301054 VEXAS syndrome, somatic
- OMIM:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- ORPHA:97282 VIPoma
- OMIM:277320 Visceral myopathy, familial, with external ophthalmoplegia
- OMIM:228100 Visceral steatosis, congenital
- OMIM:619472 VISS syndrome
- OMIM:277350 Vitamin A metabolic defect
- 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
- OMIM:600081 Vitamin D hydroxylation-deficient rickets, type 1B
- OMIM:600785 Vitamin D-dependent rickets type 2B with normal vitamin D receptor
- OMIM:619073 Vitamin d-dependent rickets, type 3
- OMIM:277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
- ORPHA:600 Vocal cord and pharyngeal distal myopathy
- ORPHA:892 Von Hippel-Lindau disease
- ORPHA:83453 Vulvovaginal gingival syndrome
Code pathologie
Nom de la pathologie
- OMIM:612469 WAGRO syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- ORPHA:899 Walker-Warburg syndrome
- OMIM:618175 Warburg-Cinotti syndrome
- ORPHA:572798 WARS2-related combined oxidative phosphorylation defect
- OMIM:615926 Webb-Dattani syndrome
- OMIM:604454 Welander distal myopathy
- ORPHA:901 Wells syndrome
- ORPHA:902 Werner syndrome
- OMIM:277700 Werner syndrome
- OMIM:193670 Whim syndrome
- ORPHA:51636 WHIM syndrome
- ORPHA:3452 Whipple disease
- OMIM:193900 White sponge nevus 1
- OMIM:615785 White sponge nevus 2
- OMIM:616364 White-Sutton syndrome
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:330001 Wild type ATTR amyloidosis
- ORPHA:904 Williams 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:614493 Wiskott-Aldrich syndrome 2
- OMIM:600903 Wiskott-Aldrich syndrome, autosomal dominant form
- OMIM:613406 Witteveen-Kolk syndrome
- ORPHA:1667 Wolcott-Rallison syndrome
- ORPHA:3463 Wolfram syndrome
- OMIM:222300 Wolfram syndrome 1
- OMIM:604928 Wolfram syndrome 2
- OMIM:598500 Wolfram syndrome, mitochondrial form
- ORPHA:411590 Wolfram-like syndrome
- OMIM:614296 Wolfram-Like syndrome, autosomal dominant
- ORPHA:75233 Wolman disease
- ORPHA:3464 Woodhouse-Sakati syndrome
- OMIM:241080 Woodhouse-Sakati syndrome
- ORPHA:178475 Wound botulism
- OMIM:278250 Wrinkly skin syndrome
- ORPHA:2834 Wrinkly skin syndrome
- OMIM:194350 Wt limb-blood syndrome
Code pathologie
Nom de la pathologie
- ORPHA:300373 X-linked acrogigantism
- ORPHA:43 X-linked adrenoleukodystrophy
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:139396 X-linked cerebral adrenoleukodystrophy
- ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6
- ORPHA:52503 X-linked creatine transporter deficiency
- ORPHA:35173 X-linked dominant chondrodysplasia punctata
- ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy
- ORPHA:181 X-linked hypohidrotic ectodermal dysplasia
- ORPHA:89936 X-linked hypophosphatemia
- ORPHA:2571 X-linked immunoneurologic disorder
- ORPHA:85276 X-linked intellectual disability, Armfield type
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:85286 X-linked intellectual disability, Shashi type
- ORPHA:3063 X-linked intellectual disability, Snyder type
- ORPHA:85325 X-linked intellectual disability, Stevenson type
- ORPHA:163976 X-linked intellectual disability, Van Esch type
- ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
- ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome
- ORPHA:2442 X-linked lymphoproliferative disease
- ORPHA:75563 X-linked sideroblastic anemia
- ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome
- OMIM:278300 Xanthinuria, type I
- OMIM:603592 Xanthinuria, type II
- OMIM:602247 Xanthomatosis, susceptibility to
- ORPHA:910 Xeroderma pigmentosum
- OMIM:278700 Xeroderma pigmentosum, complementation group A
- OMIM:610651 Xeroderma pigmentosum, complementation group B
- OMIM:278720 Xeroderma pigmentosum, complementation group C
- OMIM:278730 Xeroderma pigmentosum, complementation group D
- OMIM:278740 Xeroderma pigmentosum, complementation group E
- OMIM:278760 Xeroderma pigmentosum, complementation group F
- OMIM:278780 Xeroderma pigmentosum, complementation group G
- ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex
- OMIM:610965 XFE progeroid syndrome
- ORPHA:261476 Xp21 deletion syndrome
- ORPHA:1643 Xp22.3 microdeletion syndrome
- ORPHA:314389 Xq12-q13.3 duplication syndrome
Code pathologie
Nom de la pathologie
Gènes associés :
- #
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
Nom du gène
- AARS2
- AASS
- ABCA1
- ABCA12
- ABCA2
- ABCA3
- ABCA4
- ABCB11
- ABCB4
- ABCB6
- ABCB7
- ABCC2
- ABCC8
- ABCC9
- ABCD1
- ABCD3
- ABCD4
- ABCG5
- ABCG8
- ABHD5
- ABL1
- ACAD8
- ACAD9
- ACADM
- ACADS
- ACADSB
- ACADVL
- ACAT1
- ACAT2
- ACBD5
- ACOX1
- ACOX2
- ACP5
- ACSF3
- ACSL4
- ACTA1
- ACTB
- ACTC1
- ACTG1
- ACTN2
- ACTN4
- ACVR1
- ACVRL1
- ADA
- ADA2
- ADAM17
- ADAMTS13
- ADAMTS2
- ADAMTS3
- ADAR
- ADARB1
- ADCY10
- ADCY3
- ADK
- ADORA2A
- ADSS1
- AEBP1
- AFF4
- AFG3L2
- AFP
- AGA
- AGBL1
- AGBL5
- AGGF1
- AGK
- AGL
- AGPAT2
- AGXT
- AGXT2
- AHCY
- AHI1
- AHR
- AICDA
- AIFM1
- AIP
- AIRE
- AK2
- AKAP9
- AKR1D1
- AKT1
- AKT2
- ALAD
- ALAS2
- ALB
- ALDH18A1
- ALDH2
- ALDH4A1
- ALDH5A1
- ALDH6A1
- ALDH7A1
- ALDOA
- ALDOB
- ALG1
- ALG11
- ALG12
- ALG13
- ALG14
- ALG2
- ALG3
- ALG5
- ALG6
- ALG8
- ALG9
- ALK
- ALMS1
- ALOX12B
- ALOXE3
- ALPK1
- ALPK3
- ALPL
- AMACR
- AMMECR1
- AMN
- AMPD1
- AMPD2
- AMPD3
- AMT
- ANAPC1
- ANGPT1
- ANGPT2
- ANGPTL3
- ANK1
- ANK2
- ANKFY1
- ANKH
- ANKRD1
- ANKRD55
- ANLN
- ANO10
- ANO5
- ANTXR1
- ANTXR2
- ANXA11
- AP1B1
- AP1S1
- AP2S1
- AP3B1
- AP5Z1
- APC
- APC2
- APOA1
- APOA2
- APOA5
- APOB
- APOC2
- APOC3
- APOE
- APOL1
- APP
- APPL1
- APRT
- APTX
- AQP2
- ARG1
- ARHGAP24
- ARHGDIA
- ARHGEF1
- ARHGEF18
- ARL2BP
- ARL3
- ARL6
- ARMC5
- ARNT2
- ARPC1B
- ARSA
- ARSB
- ARSK
- ARSL
- ARVCF
- ASAH1
- ASL
- ASPA
- ASPH
- ASPRV1
- ASS1
- ASXL1
- ASXL2
- ATAD3A
- ATIC
- ATM
- ATP11C
- ATP13A2
- ATP1A1
- ATP1A2
- ATP1A3
- ATP2A1
- ATP5F1A
- ATP5F1D
- ATP5F1E
- ATP6AP1
- ATP6AP2
- ATP6V0A2
- ATP6V0A4
- ATP6V1A
- ATP6V1B1
- ATP6V1B2
- ATP6V1E1
- ATP7A
- ATP7B
- ATP8B1
- ATPAF2
- ATRX
- AUH
- AVP
- AVPR2
Nom du gène
- B2M
- B3GALNT2
- B4GALT1
- B4GAT1
- BAAT
- BACH2
- BAG3
- BAG5
- BAP1
- BAZ1B
- BBS1
- BBS2
- BBS9
- BCAP31
- BCAT2
- BCHE
- BCKDHA
- BCKDHB
- BCKDK
- BCL10
- BCL2
- BCL6
- BCL7B
- BCO1
- BCOR
- BCR
- BCS1L
- BEST1
- BICC1
- BICD2
- BICRA
- BIN1
- BIRC3
- BLK
- BLM
- BLNK
- BLTP1
- BLVRA
- BMP15
- BMP2
- BMP6
- BMPER
- BMPR1A
- BNC1
- BOLA3
- BRAF
- BRAT1
- BRCA1
- BRCA2
- BRD4
- BRIP1
- BSCL2
- BSND
- BTD
- BTK
- BTNL2
- BUB1
- BUB1B
- BUB3
- BUD23
- BVES
Nom du gène
- C18orf32
- C19orf12
- C1QBP
- C2orf69
- C3
- C4A
- CA12
- CA2
- CA4
- CA5A
- CACNA1C
- CACNA1D
- CACNA1F
- CACNA1S
- CAD
- CALCRL
- CALM1
- CALM2
- CALM3
- CALR
- CAMKMT
- CAMTA1
- CAP2
- CAPN3
- CARD10
- CARD11
- CARD9
- CARMIL2
- CARS1
- CARS2
- CASK
- CASP10
- CASP8
- CASQ1
- CASR
- CAT
- CAV1
- CAV3
- CAVIN1
- CBL
- CBLIF
- CBS
- CC2D2A
- CCBE1
- CCDC115
- CCDC134
- CCDC28B
- CCDC47
- CCDC78
- CCDC88A
- CCN6
- CCND1
- CCR1
- CCT5
- CD109
- CD19
- CD244
- CD247
- CD27
- CD28
- CD2AP
- CD320
- CD3D
- CD3E
- CD3G
- CD40
- CD40LG
- CD46
- CD55
- CD59
- CD70
- CD79A
- CD79B
- CD81
- CDAN1
- CDC42
- CDC73
- CDCA7
- CDH11
- CDH23
- CDHR1
- CDK5
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2A
- CDKN2B
- CDKN2C
- CDON
- CDSN
- CEACAM3
- CEACAM6
- CEBPE
- CEL
- CELA2A
- CELSR1
- CEP19
- CEP57
- CERKL
- CES1
- CETP
- CFAP418
- CFB
- CFH
- CFHR1
- CFHR3
- CFHR5
- CFI
- CFL2
- CFP
- CFTR
- CHCHD10
- CHD7
- CHEK2
- CHKB
- CHRNA1
- CHRND
- CHRNG
- CHST6
- CHUK
- CIC
- CIDEC
- CIITA
- CISD2
- CITED2
- CLCA4
- CLCF1
- CLCN2
- CLCN5
- CLCN6
- CLCN7
- CLCNKA
- CLCNKB
- CLDN10
- CLDN16
- CLDN19
- CLEC7A
- CLIP2
- CLMP
- CLN3
- CLN5
- CLN6
- CLN8
- CLPB
- CLRN1
- CLTRN
- CNGA1
- CNGB1
- CNNM2
- CNOT1
- CNTN1
- COA3
- COA5
- COA6
- COA7
- COA8
- COG1
- COG2
- COG4
- COG5
- COG6
- COG7
- COG8
- COL11A1
- COL12A1
- COL1A1
- COL1A2
- COL25A1
- COL2A1
- COL3A1
- COL4A1
- COL4A3
- COL4A4
- COL4A5
- COL4A6
- COL5A1
- COL5A2
- COL6A1
- COL6A2
- COL6A3
- COL7A1
- COL8A2
- COL9A3
- COLQ
- COMT
- COPA
- COQ2
- COQ4
- COQ6
- COQ7
- COQ8A
- COQ8B
- COQ9
- CORIN
- COX10
- COX14
- COX15
- COX16
- COX20
- COX4I1
- COX5A
- COX6A2
- COX6B1
- COX8A
- CP
- CPA1
- CPE
- CPN1
- CPOX
- CPS1
- CPSF3
- CPT1A
- CPT2
- CR2
- CRAT
- CRB1
- CRB2
- CREB3L3
- CRLF1
- CRPPA
- CRX
- CRYAB
- CSF1R
- CSF2RB
- CSF3R
- CSGALNACT1
- CSNK2A1
- CSPP1
- CSRP3
- CST3
- CTC1
- CTDP1
- CTH
- CTLA4
- CTNNB1
- CTNNBL1
- CTNS
- CTPS1
- CTRC
- CTSA
- CTSD
- CUBN
- CUL3
- CXCR4
- CYB561
- CYB5A
- CYBA
- CYBB
- CYBC1
- CYC1
- CYP11A1
- CYP11B1
- CYP11B2
- CYP17A1
- CYP19A1
- CYP24A1
- CYP27A1
- CYP27B1
- CYP2D6
- CYP2R1
- CYP3A4
- CYP4F22
- CYP4V2
- CYP7A1
- CYP7B1
Nom du gène
- D2HGDH
- DAAM2
- DAG1
- DARS2
- DAXX
- DBH
- DBT
- DCAF17
- DCDC2
- DCHS1
- DCLRE1B
- DCLRE1C
- DCTN4
- DCXR
- DDB2
- DDC
- DDOST
- DDR2
- DEAF1
- DEF6
- DES
- DGAT1
- DGCR2
- DGCR6
- DGCR8
- DGKE
- DGUOK
- DHCR24
- DHCR7
- DHDDS
- DHFR
- DHTKD1
- DHX16
- DHX30
- DHX38
- DIO1
- DIS3L2
- DISP1
- DKC1
- DLAT
- DLD
- DLK1
- DLL1
- DLST
- DMD
- DMGDH
- DMP1
- DMXL2
- DNA2
- DNAJB11
- DNAJB6
- DNAJC19
- DNAJC21
- DNAJC3
- DNAJC30
- DNAJC5
- DNASE1L3
- DNASE2
- DNM1L
- DNM2
- DNMT1
- DNMT3A
- DNMT3B
- DOCK2
- DOCK8
- DOHH
- DOK7
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPM3
- DPYD
- DPYS
- DSG1
- DSG2
- DSP
- DST
- DTYMK
- DUOX2
- DUOXA2
- DUT
- DUX4
- DUX4L1
- DYM
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYRK1B
- DYSF
- DZIP1L
Nom du gène
- EARS2
- EBP
- ECHS1
- EDA
- EDA2R
- EDAR
- EDARADD
- EDEM3
- EDNRA
- EFL1
- EGF
- EGFR
- EHHADH
- EIF2AK3
- EIF2AK4
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EIF2S3
- EIF4H
- ELAC2
- ELANE
- ELF4
- ELMO2
- ELN
- ELP1
- EMD
- EMP2
- ENG
- ENO3
- ENPP1
- EPAS1
- EPB41
- EPB42
- EPCAM
- EPG5
- EPHB4
- EPHX2
- ERAP1
- ERBB2
- ERBB3
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC8
- ERGIC1
- ESCO2
- ESR1
- ESS2
- ETFA
- ETFB
- ETFDH
- ETHE1
- EXTL3
- EYS
Nom du gène
- F10
- F12
- F2
- F5
- FADD
- FAH
- FAM111A
- FAM111B
- FAM161A
- FAM20A
- FAM20C
- FAN1
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FARS2
- FARSA
- FARSB
- FAS
- FASLG
- FASTKD2
- FAT4
- FBLN5
- FBN1
- FBP1
- FBXL4
- FCGR2A
- FCGR3A
- FCGR3B
- FCSK
- FDFT1
- FDX2
- FDXR
- FECH
- FGA
- FGB
- FGF20
- FGF23
- FGF8
- FGFR1
- FGFR2
- FGFR3
- FGG
- FH
- FHL1
- FHL2
- FIG4
- FIP1L1
- FKBP10
- FKBP14
- FKBP6
- FKRP
- FKTN
- FLAD1
- FLCN
- FLI1
- FLII
- FLNA
- FLNB
- FLNC
- FLT1
- FLT4
- FLVCR2
- FMO3
- FN1
- FNIP1
- FOCAD
- FOS
- FOXA2
- FOXC2
- FOXF1
- FOXG1
- FOXH1
- FOXI1
- FOXP1
- FOXP3
- FOXRED1
- FRG1
- FRMD4A
- FSCN2
- FSHR
- FTCD
- FTH1
- FTL
- FUCA1
- FUS
- FUT8
- FUZ
- FXYD2
- FZD4
Nom du gène
- G6PC1
- G6PD
- GAA
- GABRA2
- GABRA3
- GALC
- GALE
- GALK1
- GALM
- GALNS
- GALNT2
- GALNT3
- GALT
- GAMT
- GANAB
- GAPVD1
- GAS1
- GATA1
- GATA2
- GATA3
- GATA4
- GATA6
- GATAD1
- GATB
- GATC
- GATM
- GBA1
- GBA2
- GBE1
- GCDH
- GCGR
- GCH1
- GCK
- GCLC
- GCM2
- GCSH
- GDF2
- GEMIN4
- GFER
- GFI1
- GFM1
- GFM2
- GFPT1
- GFRA1
- GGCX
- GGPS1
- GGT1
- GH1
- GHR
- GHSR
- GIMAP5
- GJA1
- GJB3
- GJB4
- GJC2
- GK
- GLA
- GLB1
- GLDC
- GLE1
- GLI2
- GLI3
- GLIS3
- GLMN
- GLRX5
- GLS
- GLUD1
- GLUL
- GLYCTK
- GM2A
- GMPPB
- GNA11
- GNAQ
- GNAS
- GNAS-AS1
- GNB2
- GNE
- GNMT
- GNPTAB
- GNPTG
- GNS
- GORAB
- GOSR2
- GOT2
- GP1BA
- GP1BB
- GP9
- GPAA1
- GPC3
- GPC4
- GPC6
- GPD1
- GPD2
- GPHN
- GPI
- GPIHBP1
- GPR101
- GPR161
- GPR35
- GPX1
- GRB10
- GREB1L
- GRHL2
- GRHPR
- GRIP1
- GRM7
- GSN
- GSR
- GSS
- GSTM3
- GTF2E2
- GTF2H5
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GTPBP3
- GUCA1B
- GUCY2C
- GUCY2D
- GUSB
- GYG1
- GYPC
- GYS1
- GYS2
Nom du gène
- H19
- H4C5
- HACD1
- HACE1
- HADH
- HADHA
- HADHB
- HAGH
- HAL
- HAMP
- HAND2
- HAVCR2
- HBA1
- HBA2
- HBB
- HCFC1
- HDAC8
- HELLPAR
- HELLS
- HEPHL1
- HERC1
- HERC2
- HESX1
- HEXA
- HEXB
- HFE
- HGD
- HGSNAT
- HHAT
- HIBCH
- HINT1
- HIRA
- HJV
- HK1
- HLA-A
- HLA-B
- HLA-DPA1
- HLA-DPB1
- HLA-DQA1
- HLA-DQB1
- HLA-DRB1
- HLCS
- HMBS
- HMGA1
- HMGA2
- HMGCL
- HMGCS2
- HMOX1
- HNF1A
- HNF1B
- HNF4A
- HNRNPA1
- HNRNPA2B1
- HNRNPDL
- HNRNPK
- HOGA1
- HPD
- HPDL
- HPGD
- HPRT1
- HRAS
- HS3ST6
- HS6ST2
- HSD11B1
- HSD11B2
- HSD17B10
- HSD17B3
- HSD17B4
- HSD3B2
- HSD3B7
- HSPG2
- HTR1A
- HTRA1
- HTRA2
- HYMAI
- HYOU1
Nom du gène
- IARS1
- IARS2
- IBA57
- ICOS
- IDH1
- IDH2
- IDH3A
- IDH3B
- IDUA
- IER3IP1
- IFIH1
- IFNG
- IFNGR1
- IFT122
- IFT140
- IFT172
- IFT80
- IFT88
- IGF1
- IGF1R
- IGF2
- IGF2BP2
- IGFALS
- IGH
- IGHG2
- IGHM
- IGKC
- IGLL1
- IGSF3
- IKBKB
- IKBKG
- IKZF1
- IKZF3
- IL10
- IL12A
- IL12A-AS1
- IL12B
- IL12RB1
- IL17F
- IL17RA
- IL17RC
- IL18BP
- IL1B
- IL1RN
- IL21
- IL21R
- IL23R
- IL2RA
- IL2RB
- IL2RG
- IL31RA
- IL36RN
- IL37
- IL4R
- IL6
- IL6R
- IL6ST
- IL7R
- IMPDH1
- IMPDH2
- IMPG1
- IMPG2
- INF2
- INPP5E
- INPP5K
- INPPL1
- INS
- INSR
- INVS
- IPO8
- IPW
- IQSEC2
- IRAK1
- IRAK4
- IRF1
- IRF2BP2
- IRF4
- IRF5
- IRF6
- IRF8
- IRS1
- IRS2
- ISCA1
- ISCU
- ITCH
- ITGA2
- ITGA2B
- ITGA3
- ITGA6
- ITGA7
- ITGA8
- ITGB2
- ITGB3
- ITGB4
- ITK
- ITM2B
- ITPR2
- ITPR3
- IVD
- IVNS1ABP
- IYD
Nom du gène
- KANK2
- KARS1
- KAT6A
- KBTBD13
- KCNA1
- KCNE1
- KCNE2
- KCNE3
- KCNE5
- KCNH2
- KCNJ1
- KCNJ10
- KCNJ11
- KCNJ16
- KCNJ18
- KCNJ2
- KCNJ5
- KCNN4
- KCNQ1
- KCNQ1OT1
- KCNQ2
- KCTD1
- KCTD7
- KDF1
- KDM6A
- KDSR
- KHK
- KIAA0586
- KIAA1549
- KIF11
- KIF12
- KIF1A
- KIF1B
- KIF20A
- KIF23
- KIF7
- KIRREL1
- KIT
- KIZ
- KL
- KLF1
- KLF11
- KLF6
- KLHDC8B
- KLHL3
- KLHL40
- KLHL41
- KLHL7
- KLHL9
- KLKB1
- KLRC4
- KNG1
- KNSTRN
- KPTN
- KRAS
- KRT1
- KRT13
- KRT14
- KRT18
- KRT2
- KRT4
- KRT5
- KRT74
- KRT9
- KY
- KYNU
Nom du gène
- L2HGDH
- LACC1
- LAGE3
- LAMA1
- LAMA2
- LAMA3
- LAMA4
- LAMB2
- LAMB3
- LAMC2
- LAMP2
- LAMTOR2
- LARGE1
- LARS1
- LARS2
- LAT
- LBR
- LBX1
- LCAT
- LCP2
- LCT
- LDB3
- LDHA
- LDHB
- LDHD
- LDLR
- LDLRAP1
- LEMD2
- LEMD3
- LEP
- LEPR
- LETM1
- LHX1
- LHX3
- LHX4
- LIAS
- LIFR
- LIG1
- LIG3
- LIG4
- LIMK1
- LIMS2
- LIN28B
- LIPA
- LIPC
- LIPE
- LIPN
- LIPT1
- LIPT2
- LMAN1
- LMBRD1
- LMF1
- LMNA
- LMNB1
- LMNB2
- LMO1
- LMOD3
- LMX1B
- LONP1
- LPIN1
- LPIN2
- LPL
- LRAT
- LRBA
- LRP12
- LRP2
- LRP5
- LRP6
- LRPPRC
- LRRC8A
- LRRK1
- LSM11
- LTBP4
- LTC4S
- LYRM4
- LYRM7
- LYST
- LYZ
- LZTR1
Nom du gène
- MAD2L2
- MADD
- MAF
- MAFA
- MAFB
- MAGED2
- MAGEL2
- MAGI2
- MAGT1
- MAK
- MALT1
- MAN1B1
- MAN2B1
- MANBA
- MAP2K1
- MAP2K2
- MAPK1
- MAPK8IP1
- MAPRE2
- MARS1
- MAT1A
- MATR3
- MAX
- MBTPS2
- MC2R
- MC4R
- MCCC1
- MCCC2
- MCEE
- MCFD2
- MCM10
- MCM4
- MCM6
- MCOLN1
- MCPH1
- MDFIC
- MDH1
- MDH2
- MECOM
- MECP2
- MECR
- MED12
- MED12L
- MEF2A
- MEFV
- MEG3
- MEGF10
- MEN1
- MERTK
- MET
- METTL27
- MFF
- MFN2
- MFRP
- MGAT2
- MGME1
- MIA3
- MICOS13
- MICU1
- MIEF2
- MIF
- MIPEP
- MKKS
- MKRN3
- MKS1
- MLIP
- MLX
- MLXIPL
- MLYCD
- MMAA
- MMAB
- MMACHC
- MMADHC
- MMEL1
- MMP1
- MMP14
- MMP2
- MMUT
- MOCOS
- MOCS1
- MOCS2
- MOG
- MOGS
- MPC1
- MPDU1
- MPI
- MPL
- MPLKIP
- MPO
- MPV17
- MPZ
- MRAP
- MRAS
- MRE11
- MRM2
- MRPL12
- MRPL3
- MRPL44
- MRPS14
- MRPS16
- MRPS2
- MRPS22
- MRPS23
- MRPS25
- MRPS28
- MRPS34
- MRPS7
- MRTFA
- MS4A1
- MS4A2
- MSL3
- MSMO1
- MSN
- MST1
- MSTO1
- MT-ATP6
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND4L
- MT-ND5
- MT-ND6
- MT-TC
- MT-TE
- MT-TF
- MT-TH
- MT-TI
- MT-TK
- MT-TL1
- MT-TL2
- MT-TN
- MT-TP
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TT
- MT-TV
- MT-TW
- MTFMT
- MTHFD1
- MTHFR
- MTM1
- MTMR14
- MTNR1B
- MTO1
- MTOR
- MTR
- MTRFR
- MTRR
- MTTP
- MTX2
- MUC1
- MUC5B
- MUTYH
- MVK
- MYBPC3
- MYC
- MYCN
- MYD88
- MYF6
- MYH14
- MYH3
- MYH6
- MYH7
- MYH9
- MYL1
- MYL11
- MYL2
- MYLK
- MYMK
- MYO1E
- MYO1H
- MYO5A
- MYO5B
- MYOF
- MYOT
- MYPN
- MYSM1
Nom du gène
- NAA10
- NAB2
- NABP1
- NADK2
- NAGA
- NAGLU
- NAGS
- NALCN
- NARS2
- NAT2
- NAXD
- NAXE
- NBAS
- NBN
- NCF2
- NCF4
- NCKAP1L
- NDN
- NDP
- NDRG1
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- NDUFA6
- NDUFA8
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB7
- NDUFB8
- NDUFB9
- NDUFC2
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NECTIN4
- NEFH
- NEFL
- NEK1
- NEK10
- NEK2
- NEK9
- NEU1
- NEUROD1
- NEUROG3
- NEXN
- NF2
- NFE2L2
- NFKB1
- NFKB2
- NFKBIA
- NFKBIL1
- NFS1
- NFU1
- NGF
- NGLY1
- NHEJ1
- NHERF1
- NHLRC2
- NHP2
- NIPAL4
- NIPBL
- NKX2-1
- NKX2-5
- NKX2-6
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NNT
- NOD2
- NODAL
- NOP10
- NOS1
- NOS1AP
- NOS3
- NOTCH3
- NPAP1
- NPC1
- NPC2
- NPHP1
- NPHP3
- NPHS1
- NPHS2
- NPM1
- NPPA
- NPR3
- NR0B1
- NR1H4
- NR2E3
- NR3C1
- NR3C2
- NR4A2
- NR5A1
- NRAS
- NRL
- NSD1
- NSDHL
- NSF
- NSMCE2
- NSMCE3
- NSUN2
- NSUN3
- NT5C3A
- NT5E
- NTRK1
- NUBPL
- NUMA1
- NUP107
- NUP133
- NUP160
- NUP205
- NUP214
- NUP37
- NUP85
- NUP93
Nom du gène
Nom du gène
- P4HA2
- P4HTM
- PAFAH1B1
- PAH
- PAK1
- PALB2
- PALLD
- PANK2
- PANX1
- PAPPA2
- PARN
- PAX2
- PAX4
- PAX6
- PAX8
- PBX1
- PC
- PCARE
- PCBD1
- PCCA
- PCCB
- PCK1
- PCK2
- PCNT
- PCSK1
- PCSK9
- PCYT1A
- PDE11A
- PDE4D
- PDE6A
- PDE6B
- PDE6G
- PDE8B
- PDGFB
- PDGFRB
- PDHA1
- PDHB
- PDHX
- PDK3
- PDP1
- PDSS1
- PDSS2
- PDX1
- PEPD
- PERCC1
- PET100
- PET117
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PFKM
- PGAM2
- PGAP2
- PGAP3
- PGK1
- PGM1
- PGM3
- PGR
- PHEX
- PHGDH
- PHKA1
- PHKA2
- PHKB
- PHKG2
- PHYH
- PHYKPL
- PI4KA
- PIEZO1
- PIEZO2
- PIGA
- PIGB
- PIGC
- PIGF
- PIGG
- PIGH
- PIGK
- PIGL
- PIGN
- PIGO
- PIGQ
- PIGS
- PIGT
- PIGU
- PIGV
- PIGW
- PIGY
- PIK3C2A
- PIK3CA
- PIK3CD
- PIK3CG
- PIK3R1
- PIK3R5
- PITRM1
- PKD1
- PKD2
- PKHD1
- PKLR
- PLA2G4A
- PLA2G6
- PLA2G7
- PLAA
- PLAG1
- PLAGL1
- PLAU
- PLCD1
- PLCE1
- PLCG2
- PLCH1
- PLD1
- PLEC
- PLEKHG5
- PLEKHM1
- PLG
- PLIN1
- PLN
- PLOD1
- PLOD2
- PLPBP
- PLVAP
- PLXNA1
- PLXND1
- PMFBP1
- PML
- PMM2
- PMP22
- PMPCA
- PMPCB
- PNLIP
- PNP
- PNPLA2
- PNPLA6
- PNPLA8
- PNPO
- PNPT1
- POC1A
- POFUT1
- POGLUT1
- POGZ
- POLA1
- POLD1
- POLE
- POLG
- POLG2
- POLR3A
- POLR3H
- POLR3K
- POLRMT
- POMC
- POMGNT1
- POMGNT2
- POMK
- POMP
- POMT1
- POMT2
- POPDC3
- POR
- POU1F1
- POU2AF1
- POU4F1
- POU6F2
- PPA2
- PPARG
- PPCS
- PPM1B
- PPM1K
- PPOX
- PPP1R15B
- PPP1R17
- PPP1R3A
- PPP2R5D
- PPT1
- PRCD
- PRDM16
- PRDX1
- PREPL
- PRF1
- PRIM1
- PRKACA
- PRKAG2
- PRKAR1A
- PRKCD
- PRKCSH
- PRNP
- PRODH
- PROK2
- PROKR2
- PROM1
- PROP1
- PRORP
- PRPF3
- PRPF31
- PRPF4
- PRPF6
- PRPF8
- PRPH2
- PRPS1
- PRRT2
- PRSS1
- PRSS12
- PRSS2
- PRTN3
- PRUNE1
- PSAP
- PSAT1
- PSEN1
- PSEN2
- PSENEN
- PSMB10
- PSMB4
- PSMB8
- PSMB9
- PSMC3IP
- PSMG2
- PSPH
- PSTPIP1
- PTCD3
- PTCH1
- PTEN
- PTF1A
- PTH
- PTH1R
- PTPN1
- PTPN11
- PTPN14
- PTPN2
- PTPN22
- PTPN3
- PTPRC
- PTPRO
- PTRH2
- PTS
- PUS1
- PUS3
- PWAR1
- PWRN1
- PYGL
- PYGM
- PYROXD1
Nom du gène
- RAB27A
- RABL3
- RAC1
- RAC2
- RACGAP1
- RAD21
- RAD50
- RAD51
- RAD51C
- RAF1
- RAG1
- RAG2
- RAI1
- RANBP2
- RARA
- RARS1
- RARS2
- RASA1
- RASA2
- RASGRP1
- RB1
- RBCK1
- RBM20
- RBP3
- RDH12
- RDH5
- RECQL4
- REEP6
- REL
- RELN
- REN
- REST
- RET
- RETN
- RETREG1
- RFC2
- RFT1
- RFWD3
- RFX5
- RFX6
- RFXANK
- RFXAP
- RGR
- RHAG
- RHCE
- RHD
- RHO
- RILPL1
- RIMS2
- RIN2
- RINT1
- RIPK1
- RIT1
- RLBP1
- RMND1
- RMRP
- RNASEH1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF113A
- RNF125
- RNF13
- RNF168
- RNF216
- RNF220
- RNU4ATAC
- RNU7-1
- ROBO1
- ROM1
- RP1
- RP1L1
- RP2
- RP9
- RPA1
- RPE65
- RPGR
- RPGRIP1L
- RPIA
- RPL11
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL5
- RPS10
- RPS14
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS7
- RRAS
- RRAS2
- RREB1
- RRM2B
- RSPO1
- RTEL1
- RTL1
- RUNX1
- RXYLT1
- RYR1
Nom du gène
- SAA1
- SAG
- SAMD9
- SAMD9L
- SAMHD1
- SAR1B
- SARDH
- SARS2
- SASH3
- SBDS
- SC5D
- SCAPER
- SCARB2
- SCN10A
- SCN11A
- SCN1A
- SCN4A
- SCN4B
- SCN5A
- SCN9A
- SCNN1A
- SCNN1B
- SCNN1G
- SCO1
- SCO2
- SCYL1
- SCYL2
- SDHA
- SDHAF2
- SDHB
- SDHC
- SDHD
- SDR9C7
- SEC23B
- SEC24C
- SEC61A1
- SEC63
- SECISBP2
- SELENON
- SEMA4A
- SEMA4D
- SEMA7A
- SERAC1
- SERPINA1
- SERPINA6
- SERPINE1
- SERPINF2
- SERPING1
- SETD2
- SETX
- SFTPA2
- SFTPB
- SFTPC
- SFXN4
- SGCA
- SGCB
- SGCD
- SGCG
- SGMS2
- SGPL1
- SGSH
- SH2B1
- SH2B3
- SH2D1A
- SH3BP2
- SH3KBP1
- SHANK3
- SHH
- SHPK
- SHQ1
- SI
- SIK3
- SIL1
- SIM1
- SIN3A
- SIX3
- SKIC2
- SKIC3
- SLC10A1
- SLC10A2
- SLC11A1
- SLC11A2
- SLC12A1
- SLC12A2
- SLC12A3
- SLC12A6
- SLC13A3
- SLC16A1
- SLC16A12
- SLC17A5
- SLC18A2
- SLC19A1
- SLC19A2
- SLC19A3
- SLC1A1
- SLC1A3
- SLC20A2
- SLC22A12
- SLC22A4
- SLC22A5
- SLC25A1
- SLC25A10
- SLC25A11
- SLC25A12
- SLC25A13
- SLC25A15
- SLC25A19
- SLC25A20
- SLC25A21
- SLC25A26
- SLC25A3
- SLC25A38
- SLC25A4
- SLC25A42
- SLC26A1
- SLC26A2
- SLC26A3
- SLC26A4
- SLC26A9
- SLC28A1
- SLC29A3
- SLC2A1
- SLC2A2
- SLC2A3
- SLC2A9
- SLC30A10
- SLC30A2
- SLC30A8
- SLC30A9
- SLC33A1
- SLC34A1
- SLC34A2
- SLC34A3
- SLC35A1
- SLC35A2
- SLC35C1
- SLC35D1
- SLC36A2
- SLC37A4
- SLC39A14
- SLC39A4
- SLC39A7
- SLC39A8
- SLC3A1
- SLC40A1
- SLC41A1
- SLC46A1
- SLC4A1
- SLC4A11
- SLC4A4
- SLC51A
- SLC51B
- SLC52A1
- SLC52A2
- SLC5A1
- SLC5A2
- SLC5A5
- SLC5A6
- SLC6A14
- SLC6A18
- SLC6A19
- SLC6A2
- SLC6A20
- SLC6A3
- SLC6A6
- SLC6A8
- SLC7A14
- SLC7A7
- SLC7A9
- SLC9A3
- SLCO1B1
- SLCO1B3
- SLCO2A1
- SLITRK6
- SLX4
- SMAD4
- SMARCA2
- SMARCAL1
- SMARCB1
- SMARCE1
- SMC1A
- SMC3
- SMCHD1
- SMO
- SMPD1
- SMPD4
- SMS
- SNAP29
- SNORD115-1
- SNORD116-1
- SNRNP200
- SNRPN
- SNTA1
- SNX10
- SNX14
- SOD1
- SON
- SORD
- SOS1
- SOS2
- SOST
- SOX18
- SOX2
- SOX3
- SP110
- SPATA5
- SPATA7
- SPEG
- SPG11
- SPG7
- SPI1
- SPIB
- SPIDR
- SPINK1
- SPINK5
- SPINT2
- SPP1
- SPPL2A
- SPR
- SPRED2
- SPRY2
- SPTA1
- SPTB
- SPTBN1
- SPTBN4
- SQOR
- SQSTM1
- SRCAP
- SRD5A2
- SRD5A3
- SREBF1
- SRP54
- SRSF2
- SSR4
- STAC3
- STAG1
- STAG2
- STAR
- STAT1
- STAT2
- STAT3
- STAT4
- STAT5B
- STAT6
- STEAP3
- STIL
- STIM1
- STING1
- STK11
- STOX1
- STT3A
- STT3B
- STUB1
- STX11
- STX16
- STX1A
- STX3
- STXBP2
- SUCLA2
- SUCLG1
- SUFU
- SUGCT
- SULT2B1
- SUMF1
- SUN5
- SUOX
- SURF1
- SVIL
- SYK
- SYNE1
- SYNE2
- SYNJ1
Nom du gène
- TACO1
- TAF1A
- TAFAZZIN
- TALDO1
- TANGO2
- TAOK1
- TAPT1
- TARDBP
- TARS1
- TARS2
- TAT
- TBC1D24
- TBC1D8B
- TBCD
- TBCE
- TBCK
- TBK1
- TBL1X
- TBL1XR1
- TBL2
- TBX1
- TBX19
- TBX20
- TBX3
- TBX5
- TCAP
- TCF3
- TCF4
- TCF7L2
- TCIRG1
- TCN2
- TDGF1
- TDO2
- TDP1
- TDP2
- TEK
- TERC
- TERT
- TET2
- TEX11
- TF
- TFAM
- TFE3
- TFG
- TFR2
- TFRC
- TG
- TGFB1
- TGFBI
- TGIF1
- TGM1
- TH
- THBD
- THRB
- TIA1
- TIAM1
- TICAM1
- TIE1
- TIMM22
- TIMM50
- TIMM8A
- TIMMDC1
- TINF2
- TJP2
- TK2
- TKFC
- TKT
- TLL1
- TLR3
- TLR4
- TLR7
- TLR8
- TMC6
- TMEM126B
- TMEM127
- TMEM165
- TMEM185A
- TMEM199
- TMEM260
- TMEM270
- TMEM43
- TMEM67
- TMEM70
- TMPO
- TMPRSS15
- TMPRSS6
- TMTC3
- TNFAIP3
- TNFRSF11A
- TNFRSF11B
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF1B
- TNFSF11
- TNFSF12
- TNFSF15
- TNNC1
- TNNI3
- TNNT2
- TNPO3
- TOM1
- TONSL
- TOP2A
- TOP3A
- TOPORS
- TOR1AIP1
- TP53
- TP53RK
- TPK1
- TPM1
- TPM2
- TPM3
- TPMT
- TPO
- TPP1
- TPP2
- TPRKB
- TRAF3
- TRAF3IP2
- TRAF6
- TRAF7
- TRAPPC11
- TRAPPC12
- TRAPPC2
- TRAPPC2L
- TRAPPC9
- TRDN
- TREH
- TREX1
- TRHR
- TRIM28
- TRIM32
- TRIM37
- TRIM8
- TRIO
- TRIP11
- TRIP13
- TRIP4
- TRIT1
- TRMT10A
- TRMT10C
- TRMT5
- TRMU
- TRNT1
- TRPC6
- TRPM6
- TRPV4
- TRPV6
- TSC1
- TSC2
- TSFM
- TSHB
- TSHR
- TSPAN12
- TSPOAP1
- TSPYL1
- TSR2
- TTC26
- TTC7A
- TTC8
- TTN
- TTPA
- TTR
- TUB
- TUBB
- TUFM
- TULP1
- TULP3
- TWNK
- TXN2
- TXNDC15
- TXNRD2
- TYK2
- TYMP
- TYMS
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
