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Code Aire thérapeutique (HPO) :
HP:0025142Panel par pathologie associée :
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Code pathologie
Nom de la pathologie
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:357001 19p13.13 microdeletion syndrome
- ORPHA:567 22q11.2 deletion syndrome
- OMIM:610198 3-@methylglutaconic aciduria, type V
- ORPHA:20 3-hydroxy-3-methylglutaric aciduria
- ORPHA:505216 3-methylglutaconic aciduria type 9
- OMIM:250950 3-methylglutaconic aciduria, type I
- OMIM:617698 3-methylglutaconic aciduria, type IX
- OMIM:260005 5-@oxoprolinase deficiency
Code pathologie
Nom de la pathologie
- ORPHA:85445 AA amyloidosis
- ORPHA:439232 AApoAIV amyloidosis
- ORPHA:14 Abetalipoproteinemia
- OMIM:261990 Abnormal hair, joint laxity, and developmental delay
- ORPHA:980 Absence of the pulmonary artery
- ORPHA:926 Acatalasemia
- ORPHA:99736 Acetazolamide-responsive myotonia
- OMIM:100820 Achoo syndrome
- ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage
- ORPHA:464453 Acquired methemoglobinemia
- ORPHA:79087 Acquired partial lipodystrophy
- ORPHA:49566 Acquired purpura fulminans
- ORPHA:99147 Acquired von Willebrand syndrome
- ORPHA:963 Acromegaly
- OMIM:615954 ACTH-independent macronodular adrenal hyperplasia 2
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:83597 Acute disseminated encephalomyelitis
- ORPHA:79276 Acute intermittent porphyria
- ORPHA:79126 Acute interstitial pneumonia
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:86843 Acute panmyelosis with myelofibrosis
- ORPHA:90064 Acute peripheral arterial occlusion
- ORPHA:520 Acute promyelocytic leukemia
- ORPHA:139417 Acute transverse myelitis
- ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency
- ORPHA:55881 Adamantinoma
- ORPHA:85138 Addison disease
- ORPHA:976 Adenine phosphoribosyltransferase deficiency
- OMIM:614723 Adenine phosphoribosyltransferase deficiency
- ORPHA:424016 Adenocarcinoma of the anal canal
- ORPHA:99976 Adenocarcinoma of the esophagus
- ORPHA:45 Adenosine monophosphate deaminase deficiency
- OMIM:103200 Adiposis dolorosa
- ORPHA:36397 Adiposis dolorosa
- ORPHA:404448 ADNP syndrome
- ORPHA:1501 Adrenocortical carcinoma
- OMIM:300100 Adrenoleukodystrophy
- ORPHA:139399 Adrenomyeloneuropathy
- ORPHA:206448 Adult Krabbe disease
- ORPHA:206583 Adult polyglucosan body disease
- ORPHA:99027 Adult-onset autosomal dominant leukodystrophy
- ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329478 Adult-onset distal myopathy due to VCP mutation
- ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- ORPHA:171442 Adult-onset nemaline myopathy
- ORPHA:829 Adult-onset Still disease
- ORPHA:3385 African trypanosomiasis
- ORPHA:98850 Aggressive systemic mastocytosis
- ORPHA:85443 AL amyloidosis
- ORPHA:53 Albers-Schönberg osteopetrosis
- ORPHA:58 Alexander disease
- OMIM:203450 Alexander disease
- ORPHA:56 Alkaptonuria
- OMIM:203500 Alkaptonuria
- ORPHA:100025 Alpha-heavy chain disease
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome
- ORPHA:63 Alport syndrome
- ORPHA:64 Alström syndrome
- ORPHA:284 Alveolar echinococcosis
- ORPHA:3386 American trypanosomiasis
- ORPHA:67 Amoebiasis due to Entamoeba histolytica
- ORPHA:68 Amoebiasis due to free-living amoebae
- ORPHA:67043 Amoebic keratitis
- OMIM:105210 Amyloidosis, hereditary, transthyretin-related
- OMIM:105300 Amyotrophic dystonic paraplegia
- ORPHA:803 Amyotrophic lateral sclerosis
- OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile
- OMIM:602099 Amyotrophic lateral sclerosis 5, juvenile
- OMIM:105563 Anal sphincter dysplasia
- OMIM:616000 Analbuminemia
- ORPHA:142 Anaplastic thyroid carcinoma
- OMIM:300751 Anemia, sideroblastic, X-linked
- ORPHA:1054 Aneurysm of sinus of Valsalva
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- OMIM:106100 Angioedema, hereditary, 1
- OMIM:610618 Angioedema, hereditary, 3
- OMIM:619367 Angioedema, hereditary, 8
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:74 Angiostrongyliasis
- 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:613780 Aortic aneurysm, familial thoracic 7
- ORPHA:2299 Aortic arch interruption
- OMIM:207720 Apnea, central sleep
- OMIM:107640 Apnea, central sleep
- ORPHA:2356 Arachnoid cyst
- ORPHA:137817 Arachnoiditis
- ORPHA:101096 Aregenerative anemia
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:91 Aromatase deficiency
- OMIM:107970 Arrhythmogenic right ventricular dysplasia, familial, 1
- OMIM:610193 Arrhythmogenic right ventricular dysplasia, familial, 10
- OMIM:610476 Arrhythmogenic right ventricular dysplasia, familial, 11
- OMIM:618920 Arrhythmogenic right ventricular dysplasia, familial, 14
- OMIM:600996 Arrhythmogenic right ventricular dysplasia, familial, 2
- OMIM:602087 Arrhythmogenic right ventricular dysplasia, familial, 4
- OMIM:604400 Arrhythmogenic right ventricular dysplasia, familial, 5
- OMIM:604401 Arrhythmogenic right ventricular dysplasia, familial, 6
- OMIM:607450 Arrhythmogenic right ventricular dysplasia, familial, 8
- OMIM:609040 Arrhythmogenic right ventricular dysplasia, familial, 9
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:193700 Arthrogryposis, distal, type 2A
- ORPHA:2302 Asbestos intoxication
- ORPHA:137686 Asherman syndrome
- ORPHA:1163 Aspergillosis
- OMIM:609033 Ataxia, posterior column, with retinitis pigmentosa
- ORPHA:95713 Athyreosis
- ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis
- OMIM:615770 Atrial fibrillation, familial, 15
- OMIM:607554 Atrial fibrillation, familial, 3
- ORPHA:99104 Atrial septal defect, coronary sinus type
- ORPHA:99106 Atrial septal defect, ostium primum type
- ORPHA:99103 Atrial septal defect, ostium secundum type
- ORPHA:99105 Atrial septal defect, sinus venosus type
- ORPHA:1344 Atrial standstill
- ORPHA:79100 Atrophoderma vermiculata
- ORPHA:391411 Atypical juvenile parkinsonism
- ORPHA:79474 Atypical Werner syndrome
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- ORPHA:98375 Autoimmune hemolytic anemia
- ORPHA:228312 Autoimmune hemolytic anemia, cold type
- ORPHA:90033 Autoimmune hemolytic anemia, warm type
- ORPHA:2137 Autoimmune hepatitis
- ORPHA:36913 Autoimmune hypoparathyroidism
- OMIM:616414 Autoimmune interstitial lung, joint, and kidney disease
- ORPHA:747 Autoimmune pulmonary alveolar proteinosis
- 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:301074 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia
- ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:428 Autosomal dominant hypocalcemia
- ORPHA:89937 Autosomal dominant hypophosphatemic rickets
- ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy
- ORPHA:67036 Autosomal dominant optic atrophy and cataract
- ORPHA:1215 Autosomal dominant optic atrophy plus syndrome
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:730 Autosomal dominant polycystic kidney disease
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:486 Autosomal dominant severe congenital neutropenia
- ORPHA:100993 Autosomal dominant spastic paraplegia type 12
- ORPHA:100994 Autosomal dominant spastic paraplegia type 13
- ORPHA:100998 Autosomal dominant spastic paraplegia type 17
- ORPHA:320365 Autosomal dominant spastic paraplegia type 36
- ORPHA:171612 Autosomal dominant spastic paraplegia type 37
- ORPHA:171617 Autosomal dominant spastic paraplegia type 38
- ORPHA:100988 Autosomal dominant spastic paraplegia type 6
- ORPHA:444099 Autosomal dominant spastic paraplegia type 73
- ORPHA:100989 Autosomal dominant spastic paraplegia type 8
- ORPHA:447753 Autosomal dominant spastic paraplegia type 9A
- ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency
- ORPHA:88644 Autosomal recessive ataxia, Beauce type
- ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia
- ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity
- OMIM:600142 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
- ORPHA:101150 Autosomal recessive dopa-responsive dystonia
- ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy
- ORPHA:329329 Autosomal recessive frontotemporal pachygyria
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- ORPHA:101003 Autosomal recessive spastic paraplegia type 23
- ORPHA:101005 Autosomal recessive spastic paraplegia type 25
- ORPHA:171629 Autosomal recessive spastic paraplegia type 35
- ORPHA:320391 Autosomal recessive spastic paraplegia type 46
- ORPHA:306511 Autosomal recessive spastic paraplegia type 48
- ORPHA:401785 Autosomal recessive spastic paraplegia type 62
- ORPHA:466722 Autosomal recessive spastic paraplegia type 77
- ORPHA:447760 Autosomal recessive spastic paraplegia type 9B
- ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:401849 Autosomal spastic paraplegia type 72
- OMIM:608805 Avascular necrosis of femoral head, primary, 1
- ORPHA:454836 Avian influenza
- ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
Code pathologie
Nom de la pathologie
- ORPHA:108 Babesiosis
- ORPHA:36234 Bacterial toxic-shock syndrome
- OMIM:619255 Baralle-Macken syndrome
- OMIM:302060 Barth syndrome
- OMIM:213600 Basal ganglia calcification, idiopathic, 1
- ORPHA:98895 Becker muscular dystrophy
- ORPHA:117 Behçet disease
- ORPHA:65682 Benign recurrent intrahepatic cholestasis
- ORPHA:252164 Benign schwannoma
- ORPHA:134 Beta-ketothiolase deficiency
- ORPHA:231214 Beta-thalassemia major
- ORPHA:79138 Bickerstaff brainstem encephalitis
- ORPHA:69736 Bilateral acute depigmentation of the iris
- ORPHA:93930 Bladder exstrophy
- ORPHA:90340 Blau syndrome
- ORPHA:1059 Blue rubber bleb nevus
- OMIM:618849 Bone marrow failure syndrome 6
- OMIM:112270 Bone pain, periodic
- ORPHA:1267 Botulism
- ORPHA:83313 Boutonneuse fever
- ORPHA:2619 Brachydactylous dwarfism, Mseleni type
- OMIM:271530 Brachyolmia type 1, Hobaek type
- OMIM:271630 Brachyolmia type 1, Toledo type
- ORPHA:352649 Brain dopamine-serotonin vesicular transport disease
- ORPHA:90354 Brittle cornea syndrome
- OMIM:614170 Brittle cornea syndrome 2
- OMIM:601003 Brody myopathy
- ORPHA:97287 Bronchial neuroendocrine tumor
- ORPHA:2357 Bronchogenic cyst
- ORPHA:70589 Bronchopulmonary dysplasia
- ORPHA:1304 Brucellosis
- OMIM:601144 Brugada syndrome 1
- OMIM:611777 Brugada syndrome 2
- OMIM:611875 Brugada syndrome 3
- ORPHA:131 Budd-Chiari syndrome
- OMIM:211480 Buerger disease
- ORPHA:36258 Buerger disease
- ORPHA:543 Burkitt lymphoma
- ORPHA:353253 Burning mouth syndrome
- ORPHA:1306 Buschke-Ollendorff syndrome
Code pathologie
Nom de la pathologie
- ORPHA:280062 Calciphylaxis
- OMIM:114150 CAMPTOBRACHYDACTYLY
- OMIM:131300 Camurati-Engelmann disease
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:606631 Camurati-engelmann disease, type 2
- ORPHA:160148 Cap polyposis
- ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome
- ORPHA:100093 Carcinoid syndrome
- ORPHA:70482 Carcinoma of esophagus
- OMIM:600919 Cardiac arrhythmia, ankyrin-B-related
- OMIM:115080 Cardiac conduction defectsudden cardiac death, included
- ORPHA:1686 Cardiac diverticulum
- OMIM:620067 Cardiac valvular dysplasia 2
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- OMIM:115200 Cardiomyopathy, dilated, 1A
- OMIM:601493 Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction
- OMIM:601494 Cardiomyopathy, dilated, 1D
- OMIM:613172 Cardiomyopathy, dilated, 1DD
- OMIM:605362 Cardiomyopathy, dilated, 1J
- OMIM:606685 Cardiomyopathy, dilated, 1L
- OMIM:613426 Cardiomyopathy, dilated, 1S
- OMIM:611879 Cardiomyopathy, dilated, 1Z
- OMIM:192600 Cardiomyopathy, familial hypertrophic 1
- OMIM:608758 Cardiomyopathy, familial hypertrophic, 10
- OMIM:612098 Cardiomyopathy, familial hypertrophic, 11
- OMIM:612124 Cardiomyopathy, familial hypertrophic, 12
- OMIM:613243 Cardiomyopathy, familial hypertrophic, 13
- OMIM:613838 Cardiomyopathy, familial hypertrophic, 16
- OMIM:613874 Cardiomyopathy, familial hypertrophic, 18
- OMIM:614676 Cardiomyopathy, familial hypertrophic, 21
- OMIM:617047 Cardiomyopathy, familial hypertrophic, 26
- OMIM:619402 Cardiomyopathy, familial hypertrophic, 28
- OMIM:115196 Cardiomyopathy, familial hypertrophic, 3
- OMIM:115197 Cardiomyopathy, familial hypertrophic, 4
- OMIM:600858 Cardiomyopathy, familial hypertrophic, 6
- OMIM:608751 Cardiomyopathy, familial hypertrophic, 8
- OMIM:115210 Cardiomyopathy, familial restrictive, 1
- ORPHA:139411 Carney triad
- ORPHA:97286 Carney-Stratakis syndrome
- ORPHA:156 Carnitine palmitoyl transferase 1A deficiency
- ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form
- ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form
- ORPHA:157 Carnitine palmitoyltransferase II deficiency
- OMIM:255110 Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
- ORPHA:53035 Caroli disease
- OMIM:600643 Caroli disease, isolated
- ORPHA:480520 Caroli syndrome
- OMIM:619161 Carpal tunnel syndrome 2
- ORPHA:160 Castleman disease
- OMIM:212500 Cataract 46, juvenile-onset
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia
- ORPHA:3027 Caudal regression syndrome
- OMIM:116870 Celiac artery stenosis from compression by median arcuate ligamentof diaphragm
- OMIM:212750 Celiac disease, susceptibility to, 1
- OMIM:619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- 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
- ORPHA:101081 Charcot-Marie-Tooth disease type 1A
- ORPHA:101085 Charcot-Marie-Tooth disease type 1F
- ORPHA:99949 Charcot-Marie-Tooth disease type 4C
- OMIM:609260 Charcot-marie-tooth disease, axonal, type 2A2A
- OMIM:619574 Charcot-Marie-Tooth disease, axonal, type 2HH
- OMIM:616688 Charcot-Marie-Tooth disease, axonal, type 2Z
- OMIM:619742 Charcot-Marie-Tooth disease, demyelinating, type 1I
- OMIM:615284 Charcot-Marie-Tooth disease, type 4B3
- ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- OMIM:118420 Chiari malformation type I
- OMIM:207950 Chiari malformation type II
- ORPHA:324625 Chikungunya
- OMIM:610448 Chilblain lupus 1
- ORPHA:64280 Childhood absence epilepsy
- ORPHA:168782 Childhood disintegrative disorder
- ORPHA:171439 Childhood-onset nemaline myopathy
- ORPHA:70567 Cholangiocarcinoma
- ORPHA:173 Cholera
- ORPHA:1414 Cholestasis-lymphedema syndrome
- OMIM:118610 Chondrocalcinosis due to apatite crystal deposition
- OMIM:613638 Chromosome 19p13.13 deletion syndrome
- OMIM:151200 Chromosome 8q22.1 duplication syndrome
- OMIM:300942 Chromosome Xq26.3 duplication syndrome
- ORPHA:133 Chronic beryllium disease
- ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency
- ORPHA:99921 Chronic graft versus host disease
- ORPHA:396 Chronic hiccup
- ORPHA:521 Chronic myeloid leukemia
- ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- OMIM:259680 Chronic recurrent multifocal osteomyelitis
- ORPHA:70591 Chronic thromboembolic pulmonary hypertension
- ORPHA:263463 CHST3-related skeletal dysplasia
- OMIM:118830 Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase
- OMIM:612649 Ciliary dyskinesia, primary, 11
- OMIM:612650 Ciliary dyskinesia, primary, 12
- ORPHA:1451 CINCA syndrome
- ORPHA:57777 Cirrhotic cardiomyopathy
- ORPHA:247585 Citrullinemia type II
- ORPHA:251383 CK syndrome
- ORPHA:391 Classic Hodgkin lymphoma
- ORPHA:287 Classical Ehlers-Danlos syndrome
- ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1
- OMIM:119915 Cluster headache, familial
- ORPHA:90068 Cocaine intoxication
- ORPHA:228123 Coccidioidomycosis
- ORPHA:191 Cockayne syndrome
- OMIM:607426 Coenzyme Q10 deficiency, primary, 1
- OMIM:612016 Coenzyme Q10 deficiency, primary, 4
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- ORPHA:263487 COG5-CDG
- ORPHA:56425 Cold agglutinin disease
- OMIM:617780 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- ORPHA:289504 Combined malonic and methylmalonic acidemia
- ORPHA:477774 Combined oxidative phosphorylation defect type 27
- OMIM:616794 Combined oxidative phosphorylation deficiency 28
- OMIM:617713 Combined oxidative phosphorylation deficiency 33
- OMIM:617950 Combined oxidative phosphorylation deficiency 36
- OMIM:619024 Combined oxidative phosphorylation deficiency 49
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- ORPHA:1572 Common variable immunodeficiency
- OMIM:216950 Complement component c1r deficiency
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:1329 Complete atrioventricular septal defect
- ORPHA:83452 Complex regional pain syndrome
- ORPHA:79 Congenital alpha2-antiplasmin deficiency
- ORPHA:86816 Congenital analbuminemia
- OMIM:143400 Congenital anomalies of kidney and urinary tract 2
- ORPHA:3093 Congenital aortic valve stenosis
- OMIM:615273 Congenital disorder of deglycosylation 1
- OMIM:618885 Congenital disorder of glycosylation, type IIt
- OMIM:614921 Congenital disorder of glycosylation, type It
- ORPHA:98870 Congenital dyserythropoietic anemia type III
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:99095 Congenital Gerbode defect
- ORPHA:199296 Congenital isolated ACTH deficiency
- ORPHA:370980 Congenital muscular dystrophy without intellectual disability
- ORPHA:313906 Congenital pancreatic cyst
- ORPHA:139414 Congenital panfollicular nevus
- ORPHA:295036 Congenital patella dislocation
- ORPHA:617 Congenital primary megaureter
- ORPHA:3269 Congenital radioulnar synostosis
- ORPHA:35122 Congenital sucrase-isomaltase deficiency
- ORPHA:99125 Congenital total pulmonary venous return anomaly
- ORPHA:178382 Congenital vertical talus
- OMIM:121300 Coproporphyria
- OMIM:610947 Coronary artery disease, autosomal dominant 2
- OMIM:608320 Coronary artery disease, autosomal dominant, 1
- OMIM:611489 Corticosteroid-binding globulin deficiency
- ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome
- OMIM:218040 Costello syndrome
- ORPHA:1525 Cranio-osteoarthropathy
- ORPHA:363705 Craniofaciofrontodigital syndrome
- OMIM:123320 Creatine phosphokinase, elevated serum
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- ORPHA:1545 Crisponi syndrome
- ORPHA:2930 Cronkhite-Canada syndrome
- ORPHA:91138 Cryoglobulinemic vasculitis
- ORPHA:1546 Cryptococcosis
- ORPHA:1302 Cryptogenic organizing pneumonia
- OMIM:176450 Currarino syndrome
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:79455 Cutaneous mastocytoma
- ORPHA:79140 Cutaneous neuroendocrine carcinoma
- ORPHA:889 Cutaneous small vessel vasculitis
- ORPHA:2686 Cyclic neutropenia
- OMIM:500007 Cyclic vomiting syndrome
- ORPHA:400 Cystic echinococcosis
- ORPHA:213 Cystinosis
- OMIM:609162 Czech dysplasia, Metatarsal type
Code pathologie
Nom de la pathologie
- OMIM:300257 Danon disease
- OMIM:617772 Deafness, autosomal dominant 34, with or without inflammation
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- ORPHA:3202 Dehydrated hereditary stomatocytosis
- ORPHA:99828 Dengue fever
- ORPHA:1652 Dent disease
- OMIM:300009 Dent disease 1
- ORPHA:1656 Dermatitis herpetiformis
- ORPHA:221 Dermatomyositis
- OMIM:221810 Dermatoosteolysis, Kirghizian type
- ORPHA:1657 Dermatoosteolysis, Kirghizian type
- ORPHA:98909 Desminopathy
- ORPHA:873 Desmoid tumor
- ORPHA:83469 Desmoplastic small round cell tumor
- OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet
- OMIM:301058 Developmental and epileptic encephalopathy 90
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:615612 Developmental dysplasia of the hip 2
- OMIM:614616 Diarrhea 6
- OMIM:615863 Diarrhea 7, protein-losing Enteropathy type
- ORPHA:90060 Diffuse alveolar hemorrhage
- ORPHA:79456 Diffuse cutaneous mastocytosis
- ORPHA:220393 Diffuse cutaneous systemic sclerosis
- OMIM:605850 Dimethylglycine dehydrogenase deficiency
- ORPHA:243343 Dimethylglycine dehydrogenase deficiency
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:178400 Distal myopathy with anterior tibial onset
- ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement
- ORPHA:488650 Distal myopathy, Tateyama type
- ORPHA:18 Distal renal tubular acidosis
- ORPHA:293939 Distal Xq28 microduplication syndrome
- ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome
- ORPHA:231226 Dominant beta-thalassemia
- ORPHA:255 Dopa-responsive dystonia
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome
- ORPHA:263494 DPM3-CDG
- ORPHA:231 Dracunculiasis
- ORPHA:90037 Drug-induced autoimmune hemolytic anemia
- ORPHA:231111 Drug-induced lupus erythematosus
- ORPHA:234 Dubin-Johnson syndrome
- ORPHA:100076 Duodenal neuroendocrine tumor
- ORPHA:237 Duplication of urethra
- ORPHA:97339 Dural sinus malformation
- ORPHA:1822 Dysplasia epiphysealis hemimelica
- ORPHA:168621 Dysplasia of head of femur, Meyer type
- ORPHA:210571 Dystonia 16
- OMIM:612067 Dystonia 16
Code pathologie
Nom de la pathologie
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:319218 Ebola hemorrhagic fever
- OMIM:224700 Ebstein anomaly
- ORPHA:1880 Ebstein malformation of the tricuspid valve
- OMIM:606408 Ehlers-Danlos syndrome, classic-like
- OMIM:615539 Ehlers-Danlos syndrome, musculocontractural type, 2
- OMIM:130080 Ehlers-Danlos syndrome, periodontal type, 1
- OMIM:617174 Ehlers-Danlos syndrome, periodontal type, 2
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- ORPHA:79106 Eiken syndrome
- ORPHA:97214 Eisenmenger 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
- ORPHA:83600 Encephalitis lethargica
- 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
- ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis
- ORPHA:3165 Eosinophilic fasciitis
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- ORPHA:251636 Ependymoma
- ORPHA:35125 Epidermal nevus syndrome
- ORPHA:46487 Epidermolysis bullosa acquisita
- ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy
- OMIM:610353 Epilepsy, nocturnal frontal lobe, 4
- OMIM:616640 Epilepsy, progressive myoclonic, 10
- OMIM:614558 Epileptic encephalopathy, early infantile, 13
- OMIM:617065 Epileptic encephalopathy, early infantile, 40
- OMIM:617976 Epileptic encephalopathy, early infantile, 63
- OMIM:132400 Epiphyseal dysplasia, multiple, 1
- OMIM:600204 Epiphyseal dysplasia, multiple, 2
- OMIM:600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy
- OMIM:226900 Epiphyseal dysplasia, multiple, 4
- OMIM:607078 Epiphyseal dysplasia, multiple, 5
- OMIM:614135 Epiphyseal dysplasia, multiple, 6
- OMIM:609324 Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia
- OMIM:615040 Episodic pain syndrome, familial, 1
- OMIM:615552 Episodic pain syndrome, familial, 3
- OMIM:122400 Epithelial recurrent erosion dystrophy
- ORPHA:293381 Epithelial recurrent erosion dystrophy
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:90000 Erythema elevatum diutinum
- OMIM:133020 Erythermalgia, primary
- OMIM:133100 Erythrocytosis, familial, 1
- OMIM:263400 Erythrocytosis, familial, 2
- OMIM:610247 Esophagitis, eosinophilic, 1
- OMIM:613412 Esophagitis, eosinophilic, 2
- ORPHA:3318 Essential thrombocythemia
- ORPHA:785 Estrogen resistance syndrome
- ORPHA:31826 Ethylene glycol poisoning
- ORPHA:1959 Evans syndrome
- OMIM:616839 Exercise intolerance, riboflavin-responsive
- ORPHA:466650 Exercise-induced malignant hyperthermia
- ORPHA:322 Exstrophy-epispadias complex
- ORPHA:494424 Extracranial carotid artery aneurysm
- OMIM:618148 Extraoral halitosis due to MTO deficiency
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- OMIM:619477 Facioscapulohumeral muscular dystrophy 3, digenic
- ORPHA:280397 Familial Alzheimer-like prion disease
- ORPHA:229 Familial aortic dissection
- ORPHA:615 Familial atrial myxoma
- ORPHA:86820 Familial avascular necrosis of femoral head
- ORPHA:1416 Familial calcium pyrophosphate deposition
- ORPHA:444490 Familial chylomicronemia syndrome
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- 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:238722 Familial congenital mirror movements
- ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- OMIM:174810 Familial expansile osteolysis
- ORPHA:98820 Familial focal epilepsy with variable foci
- ORPHA:361 Familial glucocorticoid deficiency
- ORPHA:405 Familial hypocalciuric hypercalcemia
- ORPHA:342 Familial Mediterranean fever
- OMIM:134610 Familial Mediterranean fever, AD
- OMIM:249100 Familial Mediterranean fever, AR
- ORPHA:1333 Familial pancreatic carcinoma
- ORPHA:319487 Familial papillary or follicular thyroid carcinoma
- ORPHA:2348 Familial partial lipodystrophy, Dunnigan type
- ORPHA:871 Familial progressive cardiac conduction defect
- ORPHA:51083 Familial short QT syndrome
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:71493 Familial thrombocytosis
- ORPHA:53715 Familial tumoral calcinosis
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- ORPHA:163703 Febrile infection-related epilepsy syndrome
- ORPHA:47612 Felty syndrome
- ORPHA:249 Fibrous dysplasia of bone
- ORPHA:93323 Fibular hemimelia
- ORPHA:293812 Fixed drug eruption
- ORPHA:3092 Fixed subaortic stenosis
- ORPHA:83451 Florid cemento-osseous dysplasia
- ORPHA:2092 Focal dermal hypoplasia
- ORPHA:48918 Focal myositis
- ORPHA:79093 Foix-Alajouanine syndrome
- ORPHA:545 Follicular lymphoma
- ORPHA:228371 Foodborne botulism
- ORPHA:2795 Fowler urethral sphincter dysfunction syndrome
- OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7
- OMIM:229600 Fructose intolerance, hereditary
- ORPHA:98974 Fuchs endothelial corneal dystrophy
- ORPHA:91348 Functioning gonadotropic adenoma
- ORPHA:228119 Fusariosis
Code pathologie
Nom de la pathologie
- ORPHA:90041 Gaisböck syndrome
- ORPHA:100086 Gallbladder neuroendocrine tumor
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:251992 Ganglioneuroma
- OMIM:619182 Gastric adenocarcinoma and proximal polyposis of the stomach
- ORPHA:44890 Gastrointestinal stromal tumor
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- ORPHA:77261 Gaucher disease type 3
- OMIM:610539 Gaucher disease, atypical
- OMIM:230800 Gaucher disease, type I
- ORPHA:438274 GCGR-related hyperglucagonemia
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:786 Generalized glucocorticoid resistance syndrome
- ORPHA:254704 Genetic hyperferritinemia without iron overload
- ORPHA:99845 Genetic recurrent myoglobinuria
- ORPHA:656 Genetic steroid-resistant nephrotic syndrome
- ORPHA:397 Giant cell arteritis
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- ORPHA:360 Glioblastoma
- ORPHA:221098 Glossopharyngeal neuralgia
- ORPHA:97280 Glucagonoma
- OMIM:615962 Glucocorticoid resistance, generalized
- OMIM:231630 Glutamate monosodium sensitivity
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- OMIM:605899 Glycine encephalopathy
- ORPHA:407 Glycine encephalopathy
- OMIM:611556 Glycogen storage disease 0, muscle
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:57 Glycogen storage disease due to aldolase A 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:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency
- OMIM:232300 Glycogen storage disease II
- OMIM:232600 Glycogen storage disease V
- OMIM:232800 Glycogen storage disease VII
- OMIM:612933 Glycogen storage disease XI
- OMIM:612932 Glycogen storage disease XIII
- OMIM:306000 Glycogen storage disease, type IXa1
- ORPHA:354 GM1 gangliosidosis
- ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:206484 Gonadoblastoma
- OMIM:233450 Goodpasture syndrome
- ORPHA:73 Gorham-Stout disease
- ORPHA:39812 Graft versus host disease
- ORPHA:98962 Granular corneal dystrophy type I
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- ORPHA:97261 GRFoma
Code pathologie
Nom de la pathologie
- OMIM:607850 Hand osteoarthritis
- OMIM:301068 Hardikar syndrome
- ORPHA:457 Harlequin ichthyosis
- ORPHA:244242 HELLP syndrome
- ORPHA:252054 Hemangioblastoma
- OMIM:141300 Hemifacial atrophy, progressive
- ORPHA:139491 Hemochromatosis type 4
- OMIM:235200 Hemochromatosis, type 1
- OMIM:604250 Hemochromatosis, type 3
- OMIM:606069 Hemochromatosis, type 4
- ORPHA:90039 Hemoglobin D disease
- OMIM:300908 Hemolytic anemia, G6PD deficient (favism)
- ORPHA:340 Hemorrhagic fever-renal syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- ORPHA:890 Hepatic veno-occlusive disease
- OMIM:618549 Hepatitis, fulminant viral, susceptibility to
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:85450 Hereditary amyloidosis with primary renal involvement
- ORPHA:100050 Hereditary angioedema type 1
- ORPHA:676 Hereditary chronic pancreatitis
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:288 Hereditary elliptocytosis
- ORPHA:469 Hereditary fructose intolerance
- ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria
- OMIM:600361 Hereditary motor and sensory neuropathy V
- OMIM:606071 Hereditary motor and sensory neuropathy, type IIC
- ORPHA:79141 Hereditary painful callosities
- ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:94088 Hereditary renal hypouricemia
- ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:822 Hereditary spherocytosis
- ORPHA:3467 Hereditary xanthinuria
- ORPHA:79430 Hermansky-Pudlak syndrome
- OMIM:203300 Hermansky-Pudlak syndrome 1
- ORPHA:1930 Herpes simplex virus encephalitis
- ORPHA:84085 Hinman syndrome
- ORPHA:388 Hirschsprung disease
- ORPHA:137675 Histiocytoid cardiomyopathy
- ORPHA:98293 Hodgkin lymphoma
- ORPHA:391665 Homozygous familial hypercholesterolemia
- ORPHA:228116 Hughes-Stovin syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- OMIM:228600 Hyaline fibromatosis syndrome
- OMIM:236690 Hydrocephalus, normal pressure, 1
- OMIM:260920 Hyper-Igd syndrome
- ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency
- OMIM:607685 Hypereosinophilic syndrome, idiopathic
- ORPHA:343 Hyperimmunoglobulinemia D with periodic fever
- ORPHA:79299 Hyperinsulinism due to glucokinase deficiency
- ORPHA:263455 Hyperinsulinism due to HNF4A deficiency
- ORPHA:263458 Hyperinsulinism due to INSR deficiency
- ORPHA:682 Hyperkalemic periodic paralysis
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- OMIM:144755 Hyperostosis cranialis interna
- OMIM:259900 Hyperoxaluria, primary, type I
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:79101 Hyperprolinemia type 2
- OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant
- OMIM:259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1
- OMIM:614441 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
- ORPHA:289157 Hypocalcemic vitamin D-dependent rickets
- ORPHA:93160 Hypocalcemic vitamin D-resistant rickets
- OMIM:600740 Hypocalciuric hypercalcemia, familial, type III
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- OMIM:241150 Hypokalemic alkalosis, familial, with specific renal tubulopathy
- OMIM:248250 Hypomagnesemia 3, renal
- ORPHA:437 Hypophosphatemic rickets
- OMIM:612089 Hypophosphatemic rickets and hyperparathyroidism
- OMIM:241530 Hypophosphatemic rickets with hypercalciuria, hereditary
- OMIM:193100 Hypophosphatemic rickets, autosomal dominant
- OMIM:307800 Hypophosphatemic rickets, X-linked dominant
- OMIM:300554 Hypophosphatemic rickets, X-linked recessive
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- OMIM:618573 Hypothyroidism, congenital, nongoitrous, 7
- ORPHA:163690 Hypotonia-cystinuria syndrome
Code pathologie
Nom de la pathologie
- ORPHA:254509 Iatrogenic botulism
- ORPHA:930 Idiopathic achalasia
- ORPHA:724 Idiopathic acute eosinophilic pneumonia
- ORPHA:280914 Idiopathic anterior uveitis
- ORPHA:60033 Idiopathic bronchiectasis
- ORPHA:2902 Idiopathic chronic eosinophilic pneumonia
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:238624 Idiopathic intracranial hypertension
- ORPHA:85193 Idiopathic juvenile osteoporosis
- ORPHA:280921 Idiopathic panuveitis
- ORPHA:275766 Idiopathic pulmonary arterial hypertension
- ORPHA:99931 Idiopathic pulmonary hemosiderosis
- ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome
- ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- ORPHA:79153 Idiopathic trachyonychia
- ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension
- OMIM:161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1
- OMIM:613944 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2
- ORPHA:555905 IgA pemphigus
- ORPHA:449400 IgG4-related aortitis
- ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:449427 IgG4-related pachymeningitis
- ORPHA:49041 IgG4-related retroperitoneal fibrosis
- ORPHA:100078 Ileal neuroendocrine tumor
- ORPHA:206569 Immune-mediated necrotizing myopathy
- OMIM:260570 Immunodeficiency 108 with autoinflammation
- OMIM:209950 Immunodeficiency 27A, mycobacteriosis, AR
- OMIM:614162 Immunodeficiency 31C
- OMIM:618131 Immunodeficiency 58
- OMIM:618969 Immunodeficiency 70
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619802 Immunodeficiency 97 with autoinflammation
- OMIM:615767 Immunodeficiency, common variable, 11
- OMIM:613496 Immunodeficiency, common variable, 6
- OMIM:614699 Immunodeficiency, common variable, 7
- ORPHA:761 Immunoglobulin A vasculitis
- OMIM:619733 Inclusion body myopathy and brain white matter abnormalities
- OMIM:167320 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1
- OMIM:615424 Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- ORPHA:611 Inclusion body myositis
- OMIM:243000 Indifference to pain, congenital, autosomal recessive
- ORPHA:98848 Indolent systemic mastocytosis
- ORPHA:178478 Infant botulism
- ORPHA:199267 Infantile digital fibromatosis
- ORPHA:544482 Infection-related hemolytic uremic syndrome
- OMIM:619079 Inflammatory bowel disease (Crohn disease) 30
- OMIM:266600 Inflammatory bowel disease 1, Crohn disease
- OMIM:191390 Inflammatory bowel disease 11
- ORPHA:90003 Inflammatory pseudotumor of the liver
- OMIM:600989 Infundibulopelvic dysgenesis
- ORPHA:247257 Inhalational anthrax
- ORPHA:254504 Inhalational botulism
- ORPHA:282166 Inherited Creutzfeldt-Jakob disease
- ORPHA:411593 Insulin autoimmune syndrome
- ORPHA:2298 Insulin-resistance syndrome type B
- ORPHA:97279 Insulinoma
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:618402 Intellectual developmental disorder, autosomal recessive 70
- OMIM:619719 Intellectual disability and myopathy syndrome
- ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- ORPHA:210110 Intermediate osteopetrosis
- ORPHA:329967 Intermittent hydrarthrosis
- ORPHA:37202 Interstitial cystitis
- ORPHA:69665 Intrahepatic cholestasis of pregnancy
- OMIM:620121 Iron overload, susceptibility to
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:217059 Isolated congenital digital clubbing
- ORPHA:93928 Isolated epispadias
- ORPHA:166119 Isolated osteopoikilosis
- ORPHA:2924 Isolated polycystic liver disease
- ORPHA:439 Isolated right ventricular hypoplasia
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20
Code pathologie
Nom de la pathologie
- ORPHA:79139 Japanese encephalitis
- ORPHA:100077 Jejunal neuroendocrine tumor
- ORPHA:90647 Jervell and Lange-Nielsen syndrome
- OMIM:220400 Jervell and Lange-Nielsen syndrome 1
- OMIM:612347 Jervell and Lange-Nielsen syndrome 2
- ORPHA:300605 Juvenile amyotrophic lateral sclerosis
- ORPHA:93672 Juvenile dermatomyositis
- ORPHA:92 Juvenile idiopathic arthritis
- ORPHA:411634 Juvenile nephropathic cystinosis
- ORPHA:79076 Juvenile polyposis of infancy
- OMIM:174900 Juvenile polyposis syndrome
- ORPHA:2929 Juvenile polyposis syndrome
Code pathologie
Nom de la pathologie
- ORPHA:33276 Kaposi sarcoma
- ORPHA:464329 Kaposiform lymphangiomatosis
- ORPHA:2330 Kasabach-Merritt syndrome
- ORPHA:2331 Kawasaki disease
- ORPHA:499 Kerion celsi
- ORPHA:293807 Ketamine-induced biliary dilatation
- ORPHA:477 KID syndrome
- ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome
- ORPHA:97332 Kienbock disease
- ORPHA:50918 Kikuchi-Fujimoto disease
- OMIM:619542 King-Denborough syndrome
- ORPHA:99978 Klatskin tumor
- ORPHA:261494 Kleefstra syndrome
- OMIM:606693 Kufor-Rakeb syndrome
- ORPHA:306674 Kufor-Rakeb syndrome
- ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Code pathologie
Nom de la pathologie
- OMIM:223100 Lactase persistence/nonpersistence
- ORPHA:59135 Laing early-onset distal myopathy
- ORPHA:313 Lamellar ichthyosis
- ORPHA:100083 Laryngeal neuroendocrine tumor
- ORPHA:99824 Lassa fever
- ORPHA:199299 Late-onset isolated ACTH deficiency
- ORPHA:98964 Lattice corneal dystrophy type I
- ORPHA:99094 Laubry-Pezzi syndrome
- ORPHA:330015 Lead poisoning
- ORPHA:199251 Ledderhose disease
- OMIM:604169 Left ventricular noncompaction 1
- ORPHA:2380 Legg-Calvé-Perthes disease
- ORPHA:549 Legionnaires disease
- ORPHA:507 Leishmaniasis
- ORPHA:509 Leptospirosis
- OMIM:612840 Leukocyte adhesion deficiency, type III
- OMIM:169500 Leukodystrophy, adult-onset, autosomal dominant
- OMIM:618877 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
- OMIM:619189 Li-Campeau syndrome
- ORPHA:526 Liddle syndrome
- ORPHA:171673 Limbal stem cell deficiency
- OMIM:255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- OMIM:151660 Lipodystrophy, familial partial, type 2
- ORPHA:69078 Liposarcoma
- ORPHA:533 Listeriosis
- ORPHA:542643 Livedoid vasculopathy
- ORPHA:79400 Localized epidermolysis bullosa simplex
- ORPHA:90289 Localized scleroderma
- ORPHA:75566 Loeffler endocarditis
- OMIM:613795 Loeys-Dietz syndrome 3
- OMIM:614816 Loeys-Dietz syndrome 4
- OMIM:619656 Loeys-Dietz syndrome 6
- OMIM:192500 Long QT syndrome 1
- OMIM:611819 Long QT syndrome 10
- OMIM:616247 Long QT syndrome 14
- OMIM:613688 Long QT syndrome 2
- OMIM:603830 Long QT syndrome 3
- OMIM:613695 Long QT syndrome 5
- OMIM:613693 Long QT syndrome 6
- OMIM:618447 Long QT syndrome 8
- OMIM:611818 Long QT syndrome 9
- OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency
- ORPHA:69663 Low phospholipid-associated cholelithiasis
- ORPHA:276435 Lower motor neuron syndrome with late-adult onset
- OMIM:618612 Lower urinary tract obstruction, congenital
- ORPHA:1824 Lowry-Wood syndrome
- ORPHA:319213 Lujo hemorrhagic fever
- ORPHA:91546 Lyme disease
- ORPHA:538 Lymphangioleiomyomatosis
- ORPHA:2035 Lymphatic filariasis
- ORPHA:79128 Lymphoid interstitial pneumonia
- ORPHA:144 Lynch syndrome
- ORPHA:275761 Lysosomal acid lipase deficiency
Code pathologie
Nom de la pathologie
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- ORPHA:592 Macrophagic myofasciitis
- ORPHA:98969 Macular corneal dystrophy
- ORPHA:79457 Maculopapular cutaneous mastocytosis
- ORPHA:163634 Maffucci syndrome
- OMIM:619290 Mahvash disease
- OMIM:609628 Majeed syndrome
- ORPHA:77297 Majeed syndrome
- ORPHA:210272 Mal de débarquement
- ORPHA:556 Malakoplakia
- ORPHA:673 Malaria
- ORPHA:679 Malignant atrophic papulosis
- ORPHA:168811 Malignant peritoneal mesothelioma
- OMIM:248360 Malonyl-CoA decarboxylase deficiency
- ORPHA:52417 MALT lymphoma
- ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy
- ORPHA:52416 Mantle cell lymphoma
- ORPHA:99826 Marburg hemorrhagic fever
- ORPHA:221074 Marchiafava-Bignami disease
- ORPHA:558 Marfan syndrome
- ORPHA:560 Marshall syndrome
- ORPHA:66661 Mast cell sarcoma
- ORPHA:98292 Mastocytosis
- ORPHA:225 Maternally-inherited diabetes and deafness
- OMIM:609812 Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction
- ORPHA:57782 Mazabraud syndrome
- ORPHA:562 McCune-Albright syndrome
- ORPHA:57196 Medial condensing osteitis of the clavicle
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- ORPHA:616 Medulloblastoma
- ORPHA:550 MELAS
- ORPHA:2485 Melorheostosis
- ORPHA:2494 Ménétrier disease
- ORPHA:2495 Meningioma
- ORPHA:565 Menkes disease
- OMIM:616355 Mental retardation, autosomal dominant 35
- OMIM:617061 Mental retardation, autosomal dominant 44
- OMIM:300912 Mental retardation, X-linked 98
- OMIM:300243 Mental retardation, x-linked syndromic, Christianson type
- OMIM:300419 Mental retardation, X-linked, with or without seizures, arx-related
- ORPHA:330021 Mercury poisoning
- ORPHA:2499 Metachondromatosis
- OMIM:250100 Metachromatic leukodystrophy
- ORPHA:512 Metachromatic leukodystrophy
- OMIM:249900 Metachromatic leukodystrophy due to saposin B deficiency
- ORPHA:309271 Metachromatic leukodystrophy, adult form
- OMIM:156310 Metachromatic leukodystrophy, adult-onset, with normal arylsulfatasea
- ORPHA:309263 Metachromatic leukodystrophy, juvenile form
- ORPHA:309256 Metachromatic leukodystrophy, late infantile form
- ORPHA:174 Metaphyseal chondrodysplasia, Schmid type
- ORPHA:31825 Methanol poisoning
- OMIM:250850 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
- ORPHA:26 Methylmalonic acidemia with homocystinuria
- ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD
- OMIM:610377 Mevalonic aciduria
- OMIM:616834 Microcephaly, congenital cataract, and psoriasiform dermatitis
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- ORPHA:727 Microscopic polyangiitis
- ORPHA:2552 Microsporidiosis
- OMIM:255320 Minicore myopathy with external ophthalmoplegia
- ORPHA:521219 Mirizzi syndrome
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:611126 Mitochondrial complex I deficiency, nuclear type 20
- OMIM:618250 Mitochondrial complex I deficiency, nuclear type 29
- OMIM:252011 Mitochondrial complex II deficiency
- OMIM:124000 Mitochondrial complex III deficiency, nuclear type 1
- OMIM:620137 Mitochondrial complex III deficiency, nuclear type 11
- OMIM:220110 Mitochondrial complex IV deficiency, nuclear type 1
- OMIM:619058 Mitochondrial complex IV deficiency, nuclear type 14
- OMIM:619051 Mitochondrial complex IV deficiency, nuclear type 7
- OMIM:618120 Mitochondrial complex V (ATP synthase) deficiency nuclear type 5
- 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:613662 Mitochondrial DNA depletion syndrome 4B (mngie type)
- ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form
- ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss
- ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration
- OMIM:251945 Mitochondrial myopathy with A defect in mitochondrial-protein transport
- OMIM:500002 Mitochondrial myopathy with diabetes
- OMIM:251950 Mitochondrial myopathy with lactic acidosis
- OMIM:251900 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
- ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- OMIM:609015 Mitochondrial trifunctional protein deficiency
- ORPHA:746 Mitochondrial trifunctional protein deficiency
- ORPHA:809 Mixed connective tissue disease
- ORPHA:90036 Mixed-type autoimmune hemolytic anemia
- ORPHA:45448 Miyoshi myopathy
- 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:320360 MT-ATP6-related mitochondrial spastic paraplegia
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:252605 Mucolipidosis III gamma
- ORPHA:577 Mucolipidosis type III
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- OMIM:601492 Mucopolysaccharidosis type IX
- OMIM:253200 Mucopolysaccharidosis, type VI
- ORPHA:566943 Mueller-Weiss syndrome
- OMIM:166300 Multicentric carpotarsal osteolysis syndrome
- OMIM:259600 Multicentric osteolysis, nodulosis, and arthropathy
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- 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
- ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly
- ORPHA:93308 Multiple epiphyseal dysplasia type 1
- ORPHA:93307 Multiple epiphyseal dysplasia type 4
- ORPHA:93311 Multiple epiphyseal dysplasia type 5
- ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type
- ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type
- ORPHA:29073 Multiple myeloma
- ORPHA:321 Multiple osteochondromas
- OMIM:126200 Multiple sclerosis, susceptibility to
- ORPHA:2398 Multiple symmetric lipomatosis
- OMIM:146500 Multiple system atrophy 1, susceptibility to
- OMIM:611376 Mungan syndrome
- OMIM:300559 Muscle glycogenosis, X-linked
- OMIM:300376 Muscular dystrophy, Becker type
- OMIM:618129 Muscular dystrophy, limb-girdle, autosomal dominant 4
- OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18
- OMIM:616812 Muscular dystrophy, limb-girdle, autosomal recessive 25
- OMIM:603511 Muscular dystrophy, limb-girdle, type 1E
- OMIM:253601 Muscular dystrophy, limb-girdle, type 2B
- OMIM:254110 Muscular dystrophy, limb-girdle, type 2H
- OMIM:611307 Muscular dystrophy, limb-girdle, type 2L
- OMIM:606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5
- OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
- OMIM:613157 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
- OMIM:607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
- ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:616720 Myasthenic syndrome, congenital, 19
- OMIM:617239 Myasthenic syndrome, congenital, 21, presynaptic
- ORPHA:2583 Mycetoma
- OMIM:619040 Myofibrillar myopathy 10
- OMIM:619178 Myofibrillar myopathy 11
- OMIM:268200 Myoglobinuria, acute recurrent, autosomal recessive
- OMIM:160010 Myoglobinuria, autosomal dominant
- ORPHA:536516 Myopathic Ehlers-Danlos syndrome
- ORPHA:2596 Myopathy and diabetes mellitus
- OMIM:254960 Myopathy due to malate-aspartate shuttle defect
- OMIM:615511 Myopathy due to myoadenylate deaminase deficiency
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:620138 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
- OMIM:614807 Myopathy, centronuclear, 4
- OMIM:160500 Myopathy, distal, 1
- 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:617675 Myopathy, mitochondrial, and ataxia
- OMIM:617114 Myopathy, myofibrillar, 7
- OMIM:160565 Myopathy, tubular aggregate, 1
- OMIM:616231 Myopathy, vacuolar, with CASQ1 aggregates
- OMIM:300696 Myopathy, X-linked, with postural muscle atrophy
- OMIM:609200 MYOTILINOPATHY
- OMIM:160800 Myotonia congenita, autosomal dominant
- OMIM:255700 Myotonia congenita, autosomal recessive
- ORPHA:99734 Myotonia fluctuans
- ORPHA:99735 Myotonia permanens
- OMIM:608390 Myotonia, potassium-aggravated
- OMIM:255900 Myxedema
- ORPHA:99967 Myxoid/round cell liposarcoma
- ORPHA:251643 Myxopapillary ependymoma
Code pathologie
Nom de la pathologie
- ORPHA:2614 Nail-patella syndrome
- OMIM:161200 Nail-Patella syndrome
- ORPHA:141083 Nasolacrimal duct cyst
- ORPHA:2770 Nasu-Hakola disease
- OMIM:601214 Naxos disease
- ORPHA:34217 Naxos disease
- OMIM:161700 Necrotizing encephalomyelopathy, subacute, of leigh, adult
- ORPHA:199244 Nelson syndrome
- OMIM:609273 Nemaline myopathy 6
- ORPHA:94058 Neovascular glaucoma
- ORPHA:654 Nephroblastoma
- OMIM:182940 Neural tube defects, susceptibility to
- ORPHA:2901 Neuralgic amyotrophy
- OMIM:256700 Neuroblastoma, susceptibility to
- OMIM:619259 Neurodegeneration with ataxia and late-onset optic atrophy
- OMIM:617145 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- OMIM:234200 Neurodegeneration with brain iron accumulation 1
- OMIM:618868 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
- OMIM:619922 Neurodevelopmental disorder with dystonia and seizures
- OMIM:620094 Neurodevelopmental disorder with eye movement abnormalities and ataxia
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
- OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- ORPHA:100079 Neuroendocrine neoplasm of appendix
- ORPHA:100082 Neuroendocrine tumor of anal canal
- ORPHA:100075 Neuroendocrine tumor of stomach
- ORPHA:100080 Neuroendocrine tumor of the colon
- ORPHA:100081 Neuroendocrine tumor of the rectum
- ORPHA:100073 Neurogenic thoracic outlet syndrome
- ORPHA:94093 Neuroleptic malignant syndrome
- ORPHA:71211 Neuromyelitis optica spectrum disorder
- OMIM:619216 Neuropathy, hereditary motor, with myopathic features
- OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB
- ORPHA:137596 Neurotrophic keratopathy
- OMIM:610717 Neutral lipid storage disease with myopathy
- ORPHA:98908 Neutral lipid storage myopathy
- OMIM:608068 Neutrophilic dermatosis, acute febrile
- ORPHA:363558 New-onset refractory status epilepticus
- OMIM:607616 Niemann-pick disease, type B
- ORPHA:99825 Nipah virus disease
- ORPHA:263665 NK-cell enteropathy
- ORPHA:31204 Nocardiosis
- ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma
- ORPHA:33577 Nodular non-suppurative panniculitis
- ORPHA:73267 Non-24-hour sleep-wake syndrome
- ORPHA:90695 Non-acquired panhypopituitarism
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:91349 Non-functioning pituitary adenoma
- ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome
Code pathologie
Nom de la pathologie
- ORPHA:99965 O'Sullivan-McLeod syndrome
- ORPHA:2704 Ochoa syndrome
- ORPHA:2729 Okamoto syndrome
- ORPHA:296 Ollier disease
- ORPHA:352540 Oncogenic osteomalacia
- OMIM:619356 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
- OMIM:311250 Ornithine transcarbamylase deficiency, hyperammonemia due to
- OMIM:617927 Orofaciodigital syndrome XVIII
- ORPHA:93958 Oromandibular dystonia
- ORPHA:97335 Osgood-Schlatter disease
- ORPHA:2764 Osteochondritis dissecans
- ORPHA:564003 Osteochondrosis of the metatarsal bone
- ORPHA:563991 Osteochondrosis of the tarsal bone
- ORPHA:666 Osteogenesis imperfecta
- OMIM:166450 OSTEOMESOPYKNOSIS
- OMIM:619377 Osteootohepatoenteric syndrome
- OMIM:607634 Osteopetrosis, autosomal dominant 1
- OMIM:618107 Osteopetrosis, autosomal dominant 3
- ORPHA:668 Osteosarcoma
- OMIM:609993 Osteosclerosis - ichthyosis - premature ovarian failure
- OMIM:215150 Otospondylomegaepiphyseal dysplasia
- ORPHA:314473 Ovarian fibroma
- ORPHA:314478 Ovarian fibrothecoma
- OMIM:608115 Ovarian hyperstimulation syndrome
- ORPHA:64739 Ovarian hyperstimulation syndrome
- ORPHA:206572 Overlap myositis
Code pathologie
Nom de la pathologie
- ORPHA:2796 Pachydermoperiostosis
- ORPHA:2309 Pachyonychia congenita
- 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:616833 Paget disease of bone 6
- ORPHA:991 PAGOD syndrome
- ORPHA:309031 Pancreatic triacylglycerol lipase deficiency
- OMIM:167800 Pancreatitis, hereditary
- ORPHA:677 Pancreatoblastoma
- ORPHA:66624 PANDAS
- ORPHA:97336 Panner disease
- ORPHA:157850 Pantothenate kinase-associated neurodegeneration
- ORPHA:684 Paramyotonia congenita of Von Eulenburg
- OMIM:168300 Paramyotonia congenita of von eulenburg
- ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome
- ORPHA:143 Parathyroid carcinoma
- ORPHA:567983 Parenteral nutrition-associated cholestasis
- ORPHA:90307 Parkes Weber syndrome
- OMIM:618049 Parkinsonism-Dystonia, infantile, 2
- ORPHA:90035 Paroxysmal cold hemoglobinuria
- OMIM:167400 Paroxysmal extreme pain disorder
- ORPHA:157835 Paroxysmal hemicrania
- ORPHA:447 Paroxysmal nocturnal hemoglobinuria
- OMIM:615399 Paroxysmal nocturnal hemoglobinuria 2
- ORPHA:93126 Pauci-immune glomerulonephritis
- ORPHA:33402 Pediatric hepatocellular carcinoma
- ORPHA:93552 Pediatric systemic lupus erythematosus
- ORPHA:702 Pelizaeus-Merzbacher disease
- OMIM:176780 Pelvic organ prolapse
- OMIM:169550 Pelvis-Shoulder dysplasia
- ORPHA:2847 Pericardial and diaphragmatic defect
- ORPHA:65250 Perineural cyst
- OMIM:142680 Periodic fever, familial, autosomal dominant
- ORPHA:563 Peripartum cardiomyopathy
- ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- ORPHA:168816 Peritoneal cystic mesothelioma
- OMIM:614920 Peroxisome biogenesis disorder 14B
- ORPHA:398147 Persistent idiopathic facial pain
- ORPHA:2869 Peutz-Jeghers syndrome
- OMIM:175200 Peutz-Jeghers syndrome
- ORPHA:42642 PFAPA syndrome
- ORPHA:209959 Phacoanaphylactic uveitis
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- OMIM:300653 Phosphoglycerate kinase 1 deficiency
- OMIM:261670 Phosphoglycerate mutase, muscle, deficiency of
- ORPHA:251623 Pituicytoma
- ORPHA:95613 Pituitary apoplexy
- ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome
- ORPHA:707 Plague
- ORPHA:50251 Pleural mesothelioma
- ORPHA:54028 Plummer-Vinson syndrome
- ORPHA:2905 POEMS syndrome
- ORPHA:2912 Poliomyelitis
- ORPHA:767 Polyarteritis nodosa
- OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- OMIM:618193 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
- OMIM:174050 Polycystic liver disease 1 with or without kidney cysts
- ORPHA:729 Polycythemia vera
- ORPHA:180229 Polyembryoma
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:263570 Polyglucosan body neuropathy, adult form
- ORPHA:732 Polymyositis
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
- ORPHA:228410 Polyvalvular heart disease syndrome
- ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11
- ORPHA:99748 Pontiac fever
- ORPHA:738 Porphyria
- ORPHA:101330 Porphyria cutanea tarda
- 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:619463 Portal hypertension, noncirrhotic, 2
- ORPHA:95619 Post-traumatic pituitary deficiency
- ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome
- ORPHA:268810 Posterior meningocele
- ORPHA:98973 Posterior polymorphous corneal dystrophy
- ORPHA:93110 Posterior urethral valve
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:279947 Postorgasmic illness syndrome
- ORPHA:2942 Postpoliomyelitis syndrome
- ORPHA:79083 PPARG-related familial partial lipodystrophy
- ORPHA:97278 PPoma
- ORPHA:275555 Preeclampsia
- 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:90042 Primary familial polycythemia
- ORPHA:3337 Primary Fanconi renotubular syndrome
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:416 Primary hyperoxaluria
- ORPHA:93600 Primary hyperoxaluria type 3
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:90970 Primary lipodystrophy
- ORPHA:824 Primary myelofibrosis
- ORPHA:238606 Primary orthostatic tremor
- ORPHA:168829 Primary peritoneal carcinoma
- ORPHA:75567 Primary progressive freezing gait
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:289390 Primary Sjögren syndrome
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- OMIM:157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- OMIM:609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
- OMIM:609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- OMIM:610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
- OMIM:613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- OMIM:616479 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
- OMIM:618098 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- OMIM:615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- OMIM:113900 Progressive familial heart block, type IA
- OMIM:140400 Progressive familial heart block, type II
- ORPHA:2062 Progressive non-infectious anterior vertebral fusion
- ORPHA:2762 Progressive osseous heteroplasia
- ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood
- ORPHA:2965 Prolactinoma
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- OMIM:618048 Proteasome-Associated autoinflammatory syndrome 2
- OMIM:617591 Proteasome-Associated autoinflammatory syndrome 3
- ORPHA:744 Proteus syndrome
- ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia
- OMIM:177050 Protrusio acetabuli
- OMIM:600706 Proximal myopathy with focal depletion of mitochondria
- OMIM:177170 Pseudoachondroplasia
- ORPHA:750 Pseudoachondroplasia
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:26790 Pseudomyxoma peritonei
- ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis
- ORPHA:60039 Pudendal neuralgia
- ORPHA:60025 Pulmonary alveolar microlithiasis
- OMIM:610910 Pulmonary alveolar proteinosis, acquired
- ORPHA:64741 Pulmonary blastoma
- OMIM:265400 Pulmonary hypertension, primary, autosomal recessive
- ORPHA:60026 Pulmonary nodular lymphoid hyperplasia
- ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection
- OMIM:234810 Pulmonary venoocclusive disease 2
- ORPHA:79501 Punctate palmoplantar keratoderma type 1
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:441 Pure autonomic failure
- ORPHA:254854 Pure mitochondrial myopathy
- ORPHA:763 Pycnodysostosis
- OMIM:265900 Pyle disease
- ORPHA:48104 Pyoderma gangrenosum
- ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- ORPHA:764 Pyomyositis
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:770 Rabies
- OMIM:613658 Rajab interstitial lung disease with brain calcifications
- OMIM:619013 Rajab interstitial lung disease with brain calcifications 2
- ORPHA:98028 Rare circulatory system disease
- ORPHA:31205 Rat-bite fever
- ORPHA:29207 Reactive arthritis
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:98826 Refractory anemia
- ORPHA:86839 Refractory anemia with excess blasts
- ORPHA:398063 Refractory celiac disease
- ORPHA:83450 Regional odontodysplasia
- ORPHA:91547 Relapsing fever
- ORPHA:728 Relapsing polychondritis
- ORPHA:93108 Renal dysplasia
- ORPHA:71273 Renal nutcracker syndrome
- ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome
- ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome
- ORPHA:71213 Retinal capillary malformation
- ORPHA:779 Reynolds 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:618821 Rhizomelic limb shortening with dysmorphic features
- OMIM:277440 Rickets, vitamin D-resistant, type IIA
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- OMIM:606072 Rippling muscle disease
- OMIM:600332 Rippling muscle disease 1
- OMIM:619435 Ritscher-Schinzel syndrome 4
- ORPHA:101016 Romano-Ward syndrome
Code pathologie
Nom de la pathologie
- OMIM:600145 Sacral defect with anterior meningocele
- ORPHA:300493 Sagliker syndrome
- OMIM:611705 Salih myopathy
- OMIM:268800 Sandhoff disease
- ORPHA:309162 Sandhoff disease, juvenile form
- ORPHA:71272 Sandifer syndrome
- ORPHA:793 SAPHO syndrome
- ORPHA:797 Sarcoidosis
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- OMIM:612387 Sarcoidosis, susceptibility to, 2
- OMIM:600705 Satoyoshi syndrome
- ORPHA:449280 Scedosporiosis
- ORPHA:37748 Schnitzler syndrome
- ORPHA:800 Schwartz-Jampel syndrome
- ORPHA:801 Scleroderma
- ORPHA:167635 Scleromyxedema
- OMIM:269500 Sclerosteosis 1
- ORPHA:466677 Scorpion envenomation
- ORPHA:83317 Scrub typhus
- ORPHA:90363 Secondary intestinal lymphangiectasia
- ORPHA:399180 Secondary non-traumatic avascular necrosis
- ORPHA:99857 Secondary syringomyelia
- ORPHA:331235 Selective IgM deficiency
- OMIM:212350 Sengers syndrome
- OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- ORPHA:3157 Septo-optic dysplasia spectrum
- ORPHA:140896 Severe acute respiratory syndrome
- ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts
- ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency
- ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency
- ORPHA:468726 Severe primary trimethylaminuria
- ORPHA:3162 Sézary syndrome
- ORPHA:91355 Sheehan syndrome
- ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome
- ORPHA:810 Shigellosis
- OMIM:609620 Short QT syndrome 1
- OMIM:609621 Short QT syndrome 2
- ORPHA:314811 Short stature due to GHSR deficiency
- OMIM:619234 Short stature, oligodontia, dysmorphic facies, and motor delay
- ORPHA:3166 Sialuria
- OMIM:163800 Sick sinus syndrome 2
- OMIM:619464 Sick sinus syndrome 4
- OMIM:603903 Sickle cell anemia
- ORPHA:232 Sickle cell anemia
- OMIM:618635 Siddiqi syndrome
- ORPHA:3168 Sillence syndrome
- ORPHA:813 Silver-Russell syndrome
- ORPHA:91139 Simple cryoglobulinemia
- ORPHA:97337 Sinding-Larsen-Johansson disease
- OMIM:210250 Sitosterolemia 1
- ORPHA:284400 Small cell carcinoma of the bladder
- ORPHA:449285 Snakebite envenomation
- ORPHA:83468 Solitary bone cyst
- ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma
- ORPHA:209964 Solitary rectal ulcer syndrome
- ORPHA:314769 Somatomammotropinoma
- ORPHA:97283 Somatostatinoma
- OMIM:607225 Spastic paralysis, infantile-onset ascending
- OMIM:604187 Spastic paraplegia 10, autosomal dominant
- OMIM:604360 Spastic paraplegia 11, autosomal recessive
- OMIM:604805 Spastic paraplegia 12, autosomal dominant
- OMIM:605280 Spastic paraplegia 13, autosomal dominant
- OMIM:270700 Spastic paraplegia 15, autosomal recessive
- OMIM:300266 Spastic paraplegia 16, X-linked
- OMIM:607152 Spastic paraplegia 19, autosomal dominant
- OMIM:608220 Spastic paraplegia 25, autosomal recessive
- OMIM:609727 Spastic paraplegia 29, autosomal dominant
- OMIM:182600 Spastic paraplegia 3, autosomal dominant
- OMIM:612319 Spastic paraplegia 35, autosomal recessive
- OMIM:613096 Spastic paraplegia 36, autosomal dominant
- OMIM:611945 Spastic paraplegia 37, autosomal dominant
- OMIM:182601 Spastic paraplegia 4, autosomal dominant
- OMIM:613206 Spastic paraplegia 44, autosomal recessive
- OMIM:614409 Spastic paraplegia 46, autosomal recessive
- OMIM:613647 Spastic paraplegia 48, autosomal recessive
- OMIM:615033 Spastic paraplegia 54, autosomal recessive
- OMIM:270800 Spastic paraplegia 5A, autosomal recessive
- OMIM:600363 Spastic paraplegia 6, autosomal dominant
- OMIM:607259 Spastic paraplegia 7, autosomal recessive
- OMIM:616907 Spastic paraplegia 76, autosomal recessive
- OMIM:603563 Spastic paraplegia 8, autosomal dominant
- OMIM:619027 Spastic paraplegia 83, autosomal recessive
- OMIM:619686 Spastic paraplegia 85, autosomal recessive
- OMIM:601162 Spastic paraplegia 9A, autosomal dominant
- OMIM:616586 Spastic paraplegia 9B, autosomal recessive
- ORPHA:99015 Spastic paraplegia type 2
- ORPHA:99013 Spastic paraplegia type 7
- OMIM:607565 Spastic paraplegia, ataxia, and mental retardation
- ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome
- ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome
- ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- ORPHA:53721 Spinal arteriovenous metameric syndrome
- OMIM:604320 Spinal muscular atrophy, distal, autosomal recessive, 1
- OMIM:615290 Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant
- OMIM:616795 Spinocerebellar ataxia 42
- OMIM:617018 Spinocerebellar ataxia 43
- OMIM:618093 Spinocerebellar ataxia 48
- ORPHA:98768 Spinocerebellar ataxia type 13
- ORPHA:98772 Spinocerebellar ataxia type 19/22
- ORPHA:101111 Spinocerebellar ataxia type 25
- ORPHA:458803 Spinocerebellar ataxia type 42
- ORPHA:497764 Spinocerebellar ataxia type 43
- OMIM:614831 Spinocerebellar ataxia, autosomal recessive 13
- ORPHA:573278 Split cord malformation
- ORPHA:93357 SPONASTRIME dysplasia
- OMIM:613330 Spondylo-megaepiphyseal-metaphyseal dysplasia
- OMIM:106300 Spondyloarthropathy, susceptibility to, 1
- OMIM:122600 Spondylocostal dysostosis 5
- OMIM:277300 Spondylocostal dysostosis, autosomal recessive 1
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:617974 Spondyloepimetaphyseal dysplasia, DI Rocco type
- ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type
- ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type
- OMIM:271650 Spondyloepimetaphyseal dysplasia, Irapa type
- ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type
- ORPHA:94068 Spondyloepiphyseal dysplasia congenita
- OMIM:183900 Spondyloepiphyseal dysplasia congenita
- ORPHA:93284 Spondyloepiphyseal dysplasia tarda
- OMIM:184100 Spondyloepiphyseal dysplasia tarda, autosomal dominant
- OMIM:313400 Spondyloepiphyseal dysplasia tarda, X-linked
- OMIM:143095 Spondyloepiphyseal dysplasia with congenital joint dislocations
- OMIM:616583 Spondyloepiphyseal dysplasia, Stanescu type
- ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type
- ORPHA:29822 Spontaneous periodic hypothermia
- ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology
- ORPHA:225147 Sporadic infantile bilateral striatal necrosis
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- ORPHA:424019 Squamous cell carcinoma of the anal canal
- ORPHA:99977 Squamous cell carcinoma of the esophagus
- ORPHA:36238 Staphylococcal necrotizing pneumonia
- ORPHA:36426 Stevens-Johnson syndrome
- ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- ORPHA:828 Stickler syndrome
- ORPHA:90653 Stickler syndrome type 1
- OMIM:108300 Stickler syndrome, type I
- OMIM:184840 Stickler syndrome, type III
- OMIM:615934 STING-associated vasculopathy, infantile-onset
- OMIM:185070 Stormorken syndrome
- ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy
- ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma
- ORPHA:251639 Subependymoma
- OMIM:222900 Sucrase-isomaltase deficiency, congenital
- OMIM:617222 Sudden cardiac failure, infantile
- OMIM:272120 Sudden infant death syndrome
- OMIM:608800 Sudden infant death with dysgenesis of the testes syndrome
- ORPHA:57145 SUNCT syndrome
- ORPHA:247245 Superficial siderosis
- ORPHA:3243 Sweet syndrome
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- OMIM:186575 Synovial chondromatosis, familial, with dwarfism
- OMIM:186700 Syringomyelia, isolated
- ORPHA:188 Systemic capillary leak syndrome
- OMIM:301080 Systemic lupus erythematosus 17
- ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm
- ORPHA:90291 Systemic sclerosis
- ORPHA:85414 Systemic-onset juvenile idiopathic arthritis
Code pathologie
Nom de la pathologie
- ORPHA:3287 Takayasu arteritis
- ORPHA:66529 Tako-Tsubo cardiomyopathy
- OMIM:186750 Talonavicular coalition
- ORPHA:31150 Tangier disease
- OMIM:187300 Telangiectasia, hereditary hemorrhagic, type 1
- ORPHA:66627 Tenosynovial giant cell tumor
- ORPHA:3299 Tetanus
- ORPHA:3310 Tetrasomy 9p
- ORPHA:98960 Thiel-Behnke corneal dystrophy
- ORPHA:97330 Thoracic outlet syndrome
- ORPHA:54057 Thrombotic thrombocytopenic purpura
- ORPHA:99868 Thymic carcinoma
- ORPHA:97289 Thymic neuroendocrine tumor
- ORPHA:100100 Thymic tumor
- ORPHA:99867 Thymoma
- ORPHA:95719 Thyroid hemiagenesis
- OMIM:274300 Thyroid hormone resistance, generalized, autosomal recessive
- ORPHA:95720 Thyroid hypoplasia
- ORPHA:97285 Thyroid lymphoma
- ORPHA:297 Tick-borne encephalitis
- OMIM:275190 Tiglic acidemia
- OMIM:601005 Timothy syndrome
- ORPHA:857 Townes-Brocks syndrome
- ORPHA:537 Toxic epidermal necrolysis
- ORPHA:3348 Tracheobronchopathia osteochondroplastica
- ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18
- OMIM:612119 Trehalase deficiency
- ORPHA:103909 Trehalase deficiency
- OMIM:602134 Tremor, hereditary essential, 2
- ORPHA:863 Trichinellosis
- ORPHA:502 Trichorhinophalangeal syndrome type 2
- OMIM:190350 Trichorhinophalangeal syndrome, type I
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- OMIM:190400 Trigeminal neuralgia
- ORPHA:221091 Trigeminal neuralgia
- OMIM:608189 Tropical calcific pancreatitis
- ORPHA:75565 Tropical endomyocardial fibrosis
- ORPHA:103918 Tropical pancreatitis
- ORPHA:91347 TSH-secreting pituitary adenoma
- ORPHA:3389 Tuberculosis
- ORPHA:2593 Tubular aggregate myopathy
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- ORPHA:1063 Tufted angioma
- ORPHA:3392 Tularemia
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:617994 Tumoral calcinosis, hyperphosphatemic, familial, 3
- ORPHA:99818 Turcot syndrome with polyposis
- OMIM:238600 Type I hyperlipoproteinemia
- ORPHA:99745 Typhoid
Code pathologie
Nom de la pathologie
- OMIM:191420 Ulna metaphyseal dysplasia syndrome
- ORPHA:93320 Ulnar hemimelia
- ORPHA:98827 Unclassified myelodysplastic syndrome
- ORPHA:2023 Undifferentiated pleomorphic sarcoma
- ORPHA:268947 Unilateral focal polymicrogyria
- ORPHA:3408 Upington disease
- OMIM:191520 Upington disease
- ORPHA:488 Urachal cyst
- ORPHA:39044 Uveal melanoma
Code pathologie
Nom de la pathologie
- ORPHA:65681 Vaginal atresia
- ORPHA:314652 Variant ABeta2M amyloidosis
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy
- OMIM:115000 Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
- OMIM:612956 Ventricular fibrillation, paroxysmal familial, 2
- OMIM:604772 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy
- OMIM:611938 Ventricular tachycardia, catecholaminergic polymorphic, 2
- OMIM:614021 Ventricular tachycardia, catecholaminergic polymorphic, 3
- OMIM:614916 Ventricular tachycardia, catecholaminergic polymorphic, 4
- OMIM:192605 Ventricular tachycardia, familial
- ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency
- OMIM:201475 Very long-chain acyl-CoA dehydrogenase deficiency
- OMIM:301054 VEXAS syndrome, somatic
- ORPHA:97282 VIPoma
- OMIM:155310 Visceral myopathy 1
- OMIM:277320 Visceral myopathy, familial, with external ophthalmoplegia
- OMIM:243180 Visceral neuropathy, familial, autosomal recessive
- ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-
- 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
- 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
- ORPHA:897 Waardenburg-Shah syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- ORPHA:901 Wells syndrome
- OMIM:277700 Werner syndrome
- ORPHA:3452 Whipple disease
- OMIM:301041 Wieacker-Wolff syndrome, female-restricted
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:85446 Wild type ABeta2M amyloidosis
- ORPHA:330001 Wild type ATTR amyloidosis
- ORPHA:904 Williams syndrome
- OMIM:194050 Williams-Beuren syndrome
- ORPHA:905 Wilson disease
- OMIM:277900 Wilson disease
- ORPHA:906 Wiskott-Aldrich syndrome
- OMIM:613406 Witteveen-Kolk syndrome
- OMIM:194200 Wolff-Parkinson-White syndrome
Code pathologie
Nom de la pathologie
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy
- ORPHA:89936 X-linked hypophosphatemia
- ORPHA:75563 X-linked sideroblastic anemia
- ORPHA:171607 X-linked spastic paraplegia type 34
- OMIM:603592 Xanthinuria, type II
- ORPHA:910 Xeroderma pigmentosum
- ORPHA:261476 Xp21 deletion syndrome
Code pathologie
Nom de la pathologie
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
- AAGAB
- ABCA1
- ABCA12
- ABCB11
- ABCB4
- ABCC2
- ABCC9
- ABCD1
- ABCG5
- ABCG8
- ABL1
- ACAD9
- ACADM
- ACADVL
- ACAT1
- ACP5
- ACSF3
- ACTA1
- ACTA2
- ACTC1
- ACTG2
- ACTN4
- ADA2
- ADAMTS19
- ADNP
- AGBL1
- AGK
- AGXT
- AIP
- AKAP9
- AKT1
- ALAD
- ALAS2
- ALB
- ALDH18A1
- ALDH4A1
- ALDOA
- ALDOB
- ALG10B
- ALG5
- ALG9
- ALMS1
- ALOX12B
- ALOXE3
- ALS2
- AMPD1
- AMPD3
- AMT
- ANG
- ANK1
- ANK2
- ANKFY1
- ANKH
- ANKRD55
- ANLN
- ANO5
- ANTXR2
- ANXA11
- AP2S1
- AP5Z1
- APC
- APOB
- APOL1
- APRT
- ARHGAP24
- ARHGDIA
- ARMC5
- ARNT2
- ARSA
- ARSB
- ARVCF
- ASAH1
- ASPN
- ASPRV1
- ASXL1
- ATL1
- ATL3
- ATM
- ATP13A2
- ATP13A3
- ATP2A1
- ATP5F1D
- ATP7A
- ATP7B
- ATP8B1
- ATRX
- AUH
Nom du gène
Nom du gène
- C1QBP
- C1R
- C1S
- C4A
- CABP4
- CACNA1C
- CACNA1G
- CACNA1H
- CACNA2D1
- CALM1
- CALM2
- CALM3
- CALR
- CAPN1
- CAPN3
- CARD8
- CARMIL2
- CARS2
- CASK
- CASQ1
- CASQ2
- CASR
- CAT
- CAV1
- CAV3
- CAVIN1
- CBL
- CCDC78
- CCL2
- CCN2
- CCN6
- CCND1
- CCNF
- CCR1
- CCR6
- CD19
- CD244
- CD247
- CD28
- CD2AP
- CD46
- CD55
- CD79A
- CD79B
- CD81
- CDC73
- CDH2
- CDH23
- CDKN1A
- CDKN1B
- CDKN2A
- CDKN2B
- CDKN2C
- CEBPE
- CEL
- CFAP410
- CFAP43
- CFH
- CFI
- CFTR
- CHCHD10
- CHEK2
- CHMP2B
- CHRNA2
- CHRNA4
- CHRNB2
- CHST3
- CHST6
- CIITA
- CITED2
- CLCF1
- CLCN1
- CLCN5
- CLCN7
- CLCNKB
- CLDN16
- CLIP2
- CLPB
- COA3
- COG5
- COL10A1
- COL11A1
- COL11A2
- COL12A1
- COL13A1
- COL14A1
- COL17A1
- COL1A1
- COL1A2
- COL2A1
- COL3A1
- COL4A3
- COL4A5
- COL4A6
- COL5A1
- COL5A2
- COL7A1
- COL8A2
- COL9A1
- COL9A2
- COL9A3
- COMP
- COMT
- COPA
- COPB1
- COQ2
- COQ7
- COQ8A
- COQ8B
- CORIN
- COX6B1
- CPA1
- CPLX1
- CPOX
- CPT1A
- CPT1C
- CPT2
- CR2
- CRB2
- CRH
- CRKL
- CRLF1
- CRPPA
- CSRP3
- CTLA4
- CTNNB1
- CTNS
- CTRC
- CTSK
- CYP19A1
- CYP27B1
- CYP2R1
- CYP4F22
- CYP7B1
- CYSLTR2
Nom du gène
Nom du gène
Nom du gène
Nom du gène
- G6PD
- GAA
- GABRA1
- GABRB3
- GABRG2
- GALC
- GALNT2
- GANAB
- GAPVD1
- GATA2
- GATA4
- GATA6
- GATM
- GBA1
- GBA2
- GBE1
- GCDH
- GCGR
- GCH1
- GCK
- GCSH
- GDNF
- GFAP
- GFI1
- GHSR
- GIMAP5
- GJB2
- GJB6
- GJC2
- GLA
- GLDC
- GLE1
- GLI2
- GLT8D1
- GMPPB
- GNA11
- GNA14
- GNAI2
- GNAQ
- GNAS
- GNB2
- GNE
- GNPTG
- GP1BB
- GPC3
- GPD1L
- GPR101
- GPR35
- GRHL2
- GRM1
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GUCY2C
- GUF1
- GYPC
- GYS1
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
- MAFB
- MAGI2
- MALT1
- MAN2B1
- MAP3K20
- MAPK1
- MAPK8IP3
- MAT1A
- MAT2A
- MATN3
- MATR3
- MAX
- MC2R
- MCM6
- MDH2
- MDM4
- MED12
- MEF2A
- MEFV
- MEN1
- MESP2
- MET
- METTL27
- MFAP5
- MFN2
- MGME1
- MIEF2
- MIF
- MINPP1
- MITF
- MLH1
- MLH3
- MLIP
- MLX
- MLXIPL
- MLYCD
- MMADHC
- MME
- MMEL1
- MMP1
- MMP2
- MMUT
- MNX1
- MOCOS
- MORC2
- MPL
- MRAP
- MRPS2
- MS4A1
- MSH2
- MSH6
- MSMO1
- MST1
- MSTO1
- MT-ATP6
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND4
- MT-ND5
- MT-ND6
- MT-TE
- MT-TF
- MT-TH
- MT-TK
- MT-TL1
- MT-TN
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TW
- MTHFD1
- MTMR14
- MTTP
- MTX2
- MVK
- MYBPC3
- MYC
- MYD88
- MYF6
- MYH11
- MYH3
- MYH6
- MYH7
- MYL2
- MYL3
- MYLK
- MYLK2
- MYO1E
- MYO1H
- MYOT
- MYOZ2
- MYPN
Nom du gène
- NAB2
- NABP1
- NAGS
- NAXE
- NDUFAF6
- NDUFS4
- NEB
- NEFH
- NEFL
- NEK1
- NEXMIF
- NF2
- NFKB1
- NFKB2
- NFKBIL1
- NGLY1
- NIPA1
- NIPAL4
- NKX2-1
- NKX2-5
- NKX3-2
- NLRC4
- NLRP12
- NLRP3
- NNT
- NOD2
- NOS1
- NOS1AP
- NOTCH3
- NPHS1
- NPHS2
- NPM1
- NPPA
- NPRL2
- NPRL3
- NR1H4
- NR3C1
- NR4A2
- NRTN
- NSDHL
- NTN1
- NTRK1
- NUMA1
- NUP107
- NUP133
- NUP155
- NUP160
- NUP205
- NUP37
- NUP85
- NUP93
Nom du gène
- P4HA2
- PALB2
- PALLD
- PANK2
- PAX2
- PAX8
- PCSK9
- PDCD1
- PDGFB
- PDGFRA
- PDGFRB
- PEX11B
- PFKM
- PFN1
- PGAM2
- PGK1
- PGM1
- PHEX
- PHIP
- PHKA1
- PHKA2
- PHKB
- PHKG2
- PIEZO1
- PIGA
- PIGF
- PIGT
- PIGY
- PIK3CA
- PIK3CG
- PIK3R1
- PKD1
- PKD2
- PKDCC
- PKHD1
- PKP2
- PLCE1
- PLCG2
- PLEC
- PLEKHM1
- PLN
- PLP1
- PML
- PMP22
- PMS1
- PMS2
- PNPLA2
- PNPLA8
- PNPT1
- PODXL
- POLE
- POLG
- POLG2
- POLR2A
- POLR3A
- POLR3B
- POLR3GL
- POMGNT1
- POMP
- POMT1
- PON1
- PON2
- PON3
- PORCN
- POU1F1
- POU2AF1
- POU6F2
- PPA2
- PPARG
- PPARGC1A
- PPOX
- PPP2R5D
- PRDM5
- PRDM8
- PREPL
- PRKAG2
- PRKAR1A
- PRKCD
- PRKCSH
- PRKG1
- PRKRA
- PRNP
- PROC
- PROKR2
- PROP1
- PRORP
- PROS1
- PRPH
- PRSS1
- PRSS2
- PRTN3
- PSAP
- PSMB4
- PSMB8
- PSMB9
- PSTPIP1
- PTEN
- PTH1R
- PTPN11
- PTPN2
- PTPN22
- PTPN3
- PTPRO
- PUS1
- PYGL
- PYGM
Nom du gène
Nom du gène
- SAA1
- SACS
- SALL1
- SBF1
- SCARB2
- SCN10A
- SCN11A
- SCN1A
- SCN1B
- SCN4A
- SCN4B
- SCN5A
- SCN8A
- SCN9A
- SCNN1A
- SCNN1B
- SCNN1G
- SDHA
- SDHAF2
- SDHB
- SDHC
- SDHD
- SDR9C7
- SEC24C
- SEC63
- SELENBP1
- SELENON
- SEMA3C
- SEMA3D
- SEMA4A
- SEMA4D
- SEPTIN9
- SERPINA6
- SERPINF2
- SERPING1
- SF3B1
- SFRP4
- SGCD
- SH2B3
- SH3TC2
- SHQ1
- SI
- SIGMAR1
- SIN3A
- SLC11A1
- SLC12A3
- SLC18A2
- SLC18A3
- SLC1A4
- SLC20A2
- SLC22A12
- SLC22A4
- SLC25A11
- SLC25A13
- SLC25A26
- SLC25A32
- SLC25A4
- SLC26A2
- SLC26A4
- SLC2A1
- SLC2A10
- SLC2A9
- SLC34A1
- SLC34A2
- SLC34A3
- SLC39A14
- SLC3A1
- SLC40A1
- SLC44A1
- SLC4A1
- SLC4A11
- SLC4A3
- SLC9A6
- SLCO2A1
- SMAD2
- SMAD3
- SMAD4
- SMARCB1
- SMARCE1
- SMO
- SMPD1
- SNTA1
- SNX10
- SOD1
- SOST
- SOX10
- SOX2
- SOX3
- SPAST
- SPG11
- SPG7
- SPIB
- SPINK1
- SPP1
- SPTA1
- SPTB
- SPTBN1
- SPTLC1
- SPTLC2
- SQSTM1
- SREBF1
- SRP54
- SRSF2
- STAR
- STAT1
- STAT3
- STAT4
- STAT5B
- STAT6
- STEAP3
- STIM1
- STING1
- STK11
- STOX1
- STUB1
- STX16
- STX1A
- SUFU
- SULT2B1
- SURF1
- SVIL
- SYK
- SYNE1
- SYNE2
- SYNJ1
Nom du gène
- TAB2
- TAF15
- TAFAZZIN
- TARDBP
- TBC1D8B
- TBCD
- TBK1
- TBL1XR1
- TBL2
- TBX1
- TBX18
- TBX19
- TBX20
- TBX5
- TBX6
- TBXT
- TCF3
- TCF4
- TCIRG1
- TECRL
- TEK
- TERT
- TET2
- TFR2
- TGFB1
- TGFB2
- TGFB3
- TGFBI
- TGFBR1
- TGFBR2
- TGM1
- TH
- THPO
- THRB
- TICAM1
- TIMM50
- TK2
- TLL1
- TLR3
- TLR4
- TLR7
- TMEM126B
- TMEM127
- TMEM270
- TMEM43
- TNFRSF11A
- TNFRSF11B
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF1B
- TNFSF11
- TNFSF12
- TNFSF15
- TNNC1
- TNNI3
- TNNT2
- TNPO3
- TNXB
- TONSL
- TOP3A
- TP53
- TP63
- TPM1
- TPM2
- TPM3
- TRAF3
- TRAF7
- TRAPPC11
- TRAPPC2
- TRDN
- TREH
- TREM2
- TREX1
- TRHR
- TRIM28
- TRIM32
- TRIO
- TRIP13
- TRMT5
- TRPA1
- TRPC6
- TRPM4
- TRPS1
- TRPV4
- TSC1
- TSC2
- TSHB
- TSHR
- TSPOAP1
- TSPYL1
- TTN
- TTR
- TWNK
- TXNRD2
- TYMP
- TYROBP
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Tél : +33 4 72 80 23 85
Contact par email
