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Abnormal cellular phenotype
Code Aire thérapeutique (HPO) :
HP:0025354Panel par pathologie associée :
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Code pathologie
Nom de la pathologie
- ORPHA:1713 17p11.2 microduplication syndrome
- OMIM:616034 2,4-Dienoyl-Coa reductase deficiency
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:163693 2p21 microdeletion syndrome
- OMIM:246450 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency
- OMIM:231530 3-Hydroxyacyl-Coa dehydrogenase deficiency
- OMIM:210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency
- ORPHA:505216 3-methylglutaconic aciduria type 9
- ORPHA:96092 8p inverted duplication/deletion syndrome
Code pathologie
Nom de la pathologie
- ORPHA:439232 AApoAIV amyloidosis
- OMIM:200900 Achondroplasia, so-called, and severe combined immunodeficiency
- OMIM:201100 Acrodermatitis enteropathica, Zinc-Deficiency type
- ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency
- OMIM:201450 Acyl-Coa dehydrogenase, medium-chain, deficiency of
- ORPHA:2688 Adult idiopathic neutropenia
- ORPHA:79262 Adult neuronal ceroid lipofuscinosis
- ORPHA:171442 Adult-onset nemaline myopathy
- 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
- OMIM:615846 Aicardi-Goutieres syndrome 7
- ORPHA:85443 AL amyloidosis
- ORPHA:79324 ALG12-CDG
- ORPHA:1006 Alopecia antibody deficiency
- ORPHA:100025 Alpha-heavy chain disease
- OMIM:248500 Alpha-mannosidosis
- ORPHA:284 Alveolar echinococcosis
- OMIM:224120 Anemia, congenital dyserythropoietic, type Ia
- OMIM:224100 Anemia, dyserythropoietic congenital, type II
- ORPHA:74 Angiostrongyliasis
- ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- ORPHA:1163 Aspergillosis
- OMIM:208600 Asthma, short stature, and elevated iga
- ORPHA:2585 Ataxia-pancytopenia syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- OMIM:604391 Ataxia-telangiectasia-like disorder 1
- ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy 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:2137 Autoimmune hepatitis
- 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
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- 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
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:468661 Autosomal recessive spastic paraplegia type 74
- ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
Code pathologie
Nom de la pathologie
- OMIM:616452 B-cell expansion with NFKB and T-cell anergy
- OMIM:209920 Bare lymphocyte syndrome, type II
- OMIM:302060 Barth syndrome
- ORPHA:111 Barth syndrome
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- OMIM:618116 Bone marrow failure syndrome 4
- OMIM:618165 Bone marrow failure syndrome 5
- OMIM:618849 Bone marrow failure syndrome 6
- ORPHA:83313 Boutonneuse fever
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- ORPHA:1304 Brucellosis
Code pathologie
Nom de la pathologie
- ORPHA:329918 C3 glomerulopathy
- ORPHA:1310 Caffey disease
- OMIM:114065 Calcific aortic disease with immunologic abnormalities, familial
- OMIM:114580 Candidiasis, familial chronic mucocutaneous, autosomal dominant
- OMIM:212050 Candidiasis, familial chronic mucocutaneous, autosomal recessive
- OMIM:615206 Card11 immunodeficiency
- OMIM:616500 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
- OMIM:612158 Cardiomyopathy, dilated, 1AA, with or without LVNC
- OMIM:613642 Cardiomyopathy, dilated, 1GG
- OMIM:613424 Cardiomyopathy, dilated, 1R
- OMIM:611880 Cardiomyopathy, dilated, 2A
- OMIM:619371 Cardiomyopathy, dilated, 2D
- OMIM:619897 Cardiomyopathy, dilated, 2G
- OMIM:605676 Cardiomyopathy, dilated, with woolly hair and keratoderma
- OMIM:618052 Cardiomyopathy, familial hypertrophic 27
- OMIM:613255 Cardiomyopathy, familial hypertrophic, 15
- ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome
- OMIM:212160 Carnitine deficiency, myopathic
- OMIM:212140 Carnitine deficiency, systemic primary
- ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form
- ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form
- ORPHA:157 Carnitine palmitoyltransferase II deficiency
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- ORPHA:159 Carnitine-acylcarnitine translocase deficiency
- ORPHA:175 Cartilage-hair hypoplasia
- OMIM:212750 Celiac disease, susceptibility to, 1
- ORPHA:73256 Central neurocytoma
- OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy
- ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
- ORPHA:909 Cerebrotendinous xanthomatosis
- ORPHA:169079 Cernunnos-XLF deficiency
- 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:601455 Charcot-Marie-Tooth disease, type 4D
- ORPHA:90280 Chilblain lupus
- ORPHA:401866 Childhood-onset spasticity with hyperglycinemia
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:306400 Chronic granulomatous disease, X-linked
- OMIM:118900 Cirrhosis, familial
- ORPHA:228123 Coccidioidomycosis
- OMIM:216400 Cockayne syndrome A
- OMIM:133540 Cockayne syndrome, type B
- OMIM:233650 Combined cellular and humoral immune defects with granulomas
- OMIM:617780 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- 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: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
- OMIM:609060 Combined oxidative phosphorylation deficiency 1
- OMIM:614924 Combined oxidative phosphorylation deficiency 12
- OMIM:615595 Combined oxidative phosphorylation deficiency 19
- OMIM:610498 Combined oxidative phosphorylation deficiency 2
- OMIM:615917 Combined oxidative phosphorylation deficiency 20
- 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:617873 Combined oxidative phosphorylation deficiency 35
- OMIM:618378 Combined oxidative phosphorylation deficiency 38
- OMIM:618835 Combined oxidative phosphorylation deficiency 40
- OMIM:618839 Combined oxidative phosphorylation deficiency 42
- OMIM:618851 Combined oxidative phosphorylation deficiency 43
- OMIM:618951 Combined oxidative phosphorylation deficiency 45
- OMIM:619012 Combined oxidative phosphorylation deficiency 48
- OMIM:619024 Combined oxidative phosphorylation deficiency 49
- OMIM:619025 Combined oxidative phosphorylation deficiency 50
- OMIM:619057 Combined oxidative phosphorylation deficiency 51
- OMIM:619386 Combined oxidative phosphorylation deficiency 52
- OMIM:300816 Combined oxidative phosphorylation deficiency 6
- OMIM:613559 Combined oxidative phosphorylation deficiency 7
- OMIM:614096 Combined oxidative phosphorylation deficiency 8
- OMIM:618952 Combined oxidative phosphorylation defiency 46
- ORPHA:1572 Common variable immunodeficiency
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:86816 Congenital analbuminemia
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- OMIM:606056 Congenital disorder of glycosylation, type IIB
- OMIM:614576 Congenital disorder of glycosylation, type IIl
- OMIM:301045 Congenital disorder of glycosylation, type IIr
- ORPHA:98870 Congenital dyserythropoietic anemia type III
- ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:168486 Congenital neuronal ceroid lipofuscinosis
- OMIM:158350 Cowden syndrome 1
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- ORPHA:400 Cystic echinococcosis
- ORPHA:1560 Cysticercosis
- OMIM:219750 Cystinosis, adult nonnephropathic
- OMIM:219900 Cystinosis, late-onset juvenile or adolescent nephropathic
- OMIM:219800 Cystinosis, nephropathic
Code pathologie
Nom de la pathologie
- OMIM:278800 De Sanctis-Cacchione syndrome
- OMIM:221700 Deafness, neural, with atypical atopic dermatitis
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- OMIM:188400 Digeorge syndrome
- ORPHA:1307 Distal limb deficiencies-micrognathia syndrome
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:1705 Distal trisomy 14q
- ORPHA:1745 Distal trisomy 6p
- 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:223370 Dubowitz syndrome
- ORPHA:100076 Duodenal neuroendocrine tumor
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- OMIM:615190 Dyskeratosis congenita, autosomal recessive 5
- OMIM:616353 Dyskeratosis congenita, autosomal recessive 6
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- OMIM:613988 Dyskeratosis congenita, autosomal recessive, 3
- OMIM:620040 Dyskeratosis congenita, digenic
- ORPHA:412217 Dystonia-aphonia syndrome
- ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa
Code pathologie
Nom de la pathologie
- ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- ORPHA:319218 Ebola hemorrhagic fever
- OMIM:300291 Ectodermal dysplasia and immunodeficiency 1
- ORPHA:83600 Encephalitis lethargica
- OMIM:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
- ORPHA:83620 Enteric anendocrinosis
- OMIM:600351 Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
- ORPHA:251636 Ependymoma
- OMIM:611726 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- ORPHA:90000 Erythema elevatum diutinum
Code pathologie
Nom de la pathologie
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis
- 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:228000 Farber lipogranulomatosis
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:488191 Female infertility due to oocyte meiotic arrest
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- OMIM:136580 Fragile site 16q22
- ORPHA:100974 FRAXF syndrome
- ORPHA:275872 Frontotemporal dementia with motor neuron disease
Code pathologie
Nom de la pathologie
- OMIM:137050 Gamma-A-Globulin, defect in assembly of
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- ORPHA:77261 Gaucher disease type 3
- OMIM:610539 Gaucher disease, atypical
- ORPHA:157991 Generalized eruptive histiocytosis
- ORPHA:360 Glioblastoma
- OMIM:616568 Glioma susceptibility 9
- ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency
- ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- OMIM:613507 Glycogen storage disease XV
- OMIM:610293 Glycosylphosphatidylinositol deficiency
- ORPHA:169105 Good syndrome
- OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
- ORPHA:381 Griscelli syndrome
- OMIM:607624 Griscelli syndrome, type 2
- OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
Code pathologie
Nom de la pathologie
- OMIM:603553 Hemophagocytic lymphohistiocytosis, familial, 2
- OMIM:608898 Hemophagocytic lymphohistiocytosis, familial, 3
- OMIM:613101 Hemophagocytic lymphohistiocytosis, familial, 5
- OMIM:235500 Hemosiderosis, pulmonary, with deficiency of gamma-A globulin
- ORPHA:2136 Hennekam syndrome
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- OMIM:235550 Hepatic venoocclusive disease with immunodeficiency
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:90045 Hereditary folate malabsorption
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:158025 Hereditary progressive mucinous histiocytosis
- OMIM:608233 Hermansky-Pudlak syndrome 2
- OMIM:235900 Histiocytosis, familial lipochrome
- ORPHA:391428 HSD10 disease, infantile type
- OMIM:300438 HSD10 mitochondrial disease
- 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
- ORPHA:343 Hyperimmunoglobulinemia D with periodic fever
- ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- OMIM:238710 Hyperlysinemia due to defect in lysine transport into mitochondria
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- ORPHA:2248 Hypoplastic left heart syndrome
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:90368 Hypotrichosis simplex of the scalp
Code pathologie
Nom de la pathologie
- ORPHA:2268 ICF syndrome
- ORPHA:2902 Idiopathic chronic eosinophilic pneumonia
- 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:449432 IgG4-related submandibular gland disease
- ORPHA:64744 IgG4-related thyroid disease
- ORPHA:100078 Ileal neuroendocrine tumor
- OMIM:242700 Immune defect due to absence of thymus
- OMIM:146830 Immune deficiency, familial variable
- ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- OMIM:612783 Immunodeficiency 10
- OMIM:301082 Immunodeficiency 102
- OMIM:619924 Immunodeficiency 105, severe combined
- 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: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:618969 Immunodeficiency 70
- 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: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: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
- 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
- ORPHA:79263 Infantile neuronal ceroid lipofuscinosis
- OMIM:618213 Inflammatory bowel disease, immunodeficiency, and encephalopathy
- ORPHA:90003 Inflammatory pseudotumor of the liver
- OMIM:614328 Inflammatory skin and bowel disease, neonatal, 1
- ORPHA:411593 Insulin autoimmune syndrome
- ORPHA:2298 Insulin-resistance syndrome type B
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- OMIM:600546 Intrauterine growth retardation with increased mitomycin C sensitivity
- ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency
- OMIM:611283 Isobutyryl-CoA dehydrogenase deficiency
- ORPHA:2609 Isolated complex I deficiency
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:59135 Laing early-onset distal myopathy
- ORPHA:1296 Lambert syndrome
- ORPHA:99824 Lassa fever
- ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis
- ORPHA:330015 Lead poisoning
- ORPHA:104 Leber hereditary optic neuropathy
- ORPHA:506 Leigh syndrome
- ORPHA:255241 Leigh syndrome with leukodystrophy
- ORPHA:507 Leishmaniasis
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- ORPHA:99812 LIG4 syndrome
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- OMIM:616342 Lissencephaly 7 with cerebellar hypoplasia
- OMIM:613070 Liver failure, infantile, transient
- ORPHA:75566 Loeffler endocarditis
- OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency
- OMIM:309000 Lowe syndrome
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:152800 Lymphangiectasia, intestinal
- OMIM:247630 Lymphoid system deterioration, progressive
- 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
- ORPHA:470 Lysinuric protein intolerance
Code pathologie
Nom de la pathologie
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- OMIM:605309 Macrocephaly/autism syndrome
- OMIM:153600 Macroglobulinemia, Waldenstrom, somatic
- ORPHA:529970 Male infertility due to acephalic spermatozoa
- ORPHA:423 Malignant hyperthermia of anesthesia
- ORPHA:306682 Manganese poisoning
- OMIM:154570 Mannose 6-phosphate receptor recognition defect, Lebanese type
- ORPHA:99826 Marburg hemorrhagic fever
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:261519 Maternal uniparental disomy of chromosome X
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- ORPHA:2495 Meningioma
- OMIM:300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type
- ORPHA:508093 MEPAN syndrome
- OMIM:610377 Mevalonic aciduria
- ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:79329 MGAT2-CDG
- OMIM:251190 Microcephalic primordial dwarfism, Toriello type
- ORPHA:2643 Microcephalic primordial dwarfism, Toriello type
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2
- OMIM:251200 Microcephaly, primary autosomal recessive, 1
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- 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:618244 Mitochondrial complex I deficiency, nuclear type 23
- OMIM:618245 Mitochondrial complex I deficiency, nuclear type 24
- OMIM:618247 Mitochondrial complex I deficiency, nuclear type 26
- OMIM:618248 Mitochondrial complex I deficiency, nuclear type 27
- OMIM:618251 Mitochondrial complex I deficiency, nuclear type 31
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:618776 Mitochondrial complex I deficiency, nuclear type 34
- OMIM: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: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:620137 Mitochondrial complex III deficiency, nuclear type 11
- 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: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: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:619048 Mitochondrial complex IV deficiency, nuclear type 4
- 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: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:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type)
- OMIM:618567 Mitochondrial DNA depletion syndrome 17
- 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:612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- OMIM:245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
- ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia
- OMIM:500013 Mitochondrial form of axonal Charcot-Marie-Tooth disease-1
- OMIM:500002 Mitochondrial myopathy with diabetes
- ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- OMIM:500009 Mitochondrial myopathy, infantile, transient
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- OMIM:610773 Mitochondrial phosphate carrier deficiency
- OMIM:616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
- ORPHA:79330 MOGS-CDG
- ORPHA:52368 Mohr-Tranebjaerg syndrome
- OMIM:252250 Monocyte chemotactic disorder
- ORPHA:1600 Monosomy 18q
- OMIM:252300 Morquio syndrome C
- ORPHA:1703 Mosaic trisomy 14
- ORPHA:1706 Mosaic trisomy 15
- 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:100024 Mu-heavy chain disease
- OMIM:252500 Mucolipidosis II alpha/beta
- OMIM:252600 Mucolipidosis III alpha/beta
- OMIM:252650 Mucolipidosis IV
- ORPHA:578 Mucolipidosis type IV
- OMIM:252700 Mucopolysaccharidoses, unclassified types
- OMIM:252930 Mucopolysaccharidosis type IIIC
- OMIM:252940 Mucopolysaccharidosis, type IIID
- ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- OMIM:617303 Mucopolysaccharidosis-Plus syndrome
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- OMIM:231680 Multiple acyl-CoA-dehydrogenase deficiency
- OMIM:605711 Multiple mitochondrial dysfunctions syndrome 1
- OMIM:614299 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
- OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3
- OMIM:254500 Multiple myeloma
- ORPHA:29073 Multiple myeloma
- OMIM:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:619967 Myopathy, congenital, nonprogressive
- OMIM:616209 Myopathy, isolated mitochondrial, autosomal dominant
- OMIM:613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Code pathologie
Nom de la pathologie
- OMIM:310465 N syndrome
- ORPHA:644 NARP syndrome
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency
- ORPHA:634 Netherton syndrome
- OMIM:256500 Netherton syndrome
- ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive
- OMIM:618879 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
- ORPHA:100079 Neuroendocrine neoplasm of appendix
- ORPHA:99811 Neuronal intestinal pseudoobstruction
- 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
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- OMIM:613078 Nijmegen breakage syndrome-like disorder
- ORPHA:1695 Non-distal trisomy 10q
- ORPHA:1702 Non-distal trisomy 13q
- OMIM:158250 NONDISJUNCTION
Code pathologie
Nom de la pathologie
- ORPHA:99965 O'Sullivan-McLeod syndrome
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- ORPHA:411641 Ocular cystinosis
- ORPHA:557003 Oculoskeletodental syndrome
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- OMIM:618353 Oocyte maturation defect 6
- OMIM:618550 Oocyte maturation defect 7
- OMIM:258470 Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
- ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- OMIM:258900 Orotic aciduria
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:607634 Osteopetrosis, autosomal dominant 1
- OMIM:166600 Osteopetrosis, autosomal dominant 2
- OMIM:259730 Osteopetrosis, autosomal recessive 3
- OMIM:612301 Osteopetrosis, autosomal recessive 7
- OMIM:185000 Overhydrated hereditary stomatocytosis
Code pathologie
Nom de la pathologie
- OMIM:260100 Pa polymorphism of alpha-2-globulin
- OMIM:239000 Paget disease of bone 5, juvenile-onset
- OMIM:144200 Palmoplantar keratoderma, epidermolytic
- ORPHA:90159 Panniculitis-induced localized lipodystrophy
- ORPHA:261524 Paternal uniparental disomy of chromosome X
- OMIM:270300 Peeling skin syndrome 1
- OMIM:169400 Pelger-Huet anomaly
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS
- ORPHA:443811 PGM3-CDG
- ORPHA:723 Pneumocystosis
- ORPHA:2905 POEMS syndrome
- ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
- OMIM:611523 Pontocerebellar hypoplasia, type 6
- OMIM:618428 Popov-Chang syndrome
- ORPHA:48435 Postinfectious vasculitis
- OMIM:176430 Premature chromatid separation trait
- ORPHA:186 Primary biliary cholangitis
- ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
- ORPHA:3337 Primary Fanconi renotubular syndrome
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:289390 Primary Sjögren syndrome
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency
- ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type
- OMIM:617069 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- OMIM:170100 Prolidase 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
- ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia
- ORPHA:1762 Proximal Xq28 duplication syndrome
- OMIM:618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia
- OMIM:614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
- OMIM:616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
- OMIM:616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
- OMIM:618674 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- OMIM:619767 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- OMIM:178500 Pulmonary fibrosis, idiopathic
- ORPHA:48104 Pyoderma gangrenosum
- ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- OMIM:312170 Pyruvate dehydrogenase e1-alpha deficiency
- ORPHA:255138 Pyruvate dehydrogenase E1-beta 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
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- OMIM:179280 Radial-Renal syndrome
- OMIM:614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic
- ORPHA:1929 Rasmussen subacute encephalitis
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:1662 Restrictive dermopathy
- OMIM:267500 Reticular dysgenesia
- ORPHA:33355 Reticular dysgenesis
- OMIM:267900 Retinal telangiectasia and hypogammaglobulinemia
- OMIM:268130 Revesz syndrome
- OMIM:611943 Riddle syndrome
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- ORPHA:1445 Ring chromosome 21 syndrome
- OMIM:268300 Roberts syndrome
- ORPHA:353298 Roifman syndrome
- ORPHA:158014 Rosaï-Dorfman disease
Code pathologie
Nom de la pathologie
- OMIM:611705 Salih myopathy
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:269000 Sc phocomelia syndrome
- ORPHA:1830 Schimke immuno-osseous dysplasia
- ORPHA:37748 Schnitzler syndrome
- OMIM:600802 Scid, autosomal recessive, T-Negative/b-Positive type
- OMIM:181750 Scleroderma, familial progressive
- ORPHA:167635 Scleromyxedema
- ORPHA:90363 Secondary intestinal lymphangiectasia
- OMIM:269650 Secretory component deficiency
- ORPHA:331235 Selective IgM deficiency
- 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:3162 Sézary syndrome
- ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency
- ORPHA:3166 Sialuria
- OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- ORPHA:91139 Simple cryoglobulinemia
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- ORPHA:468699 SLC39A8-CDG
- OMIM:616638 Smith-Kingsmore syndrome
- OMIM:182410 Sneddon syndrome
- OMIM:147250 Solitary median maxillary central incisor
- ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome
- ORPHA:99013 Spastic paraplegia type 7
- OMIM:616859 Spasticity, childhood-onset, with hyperglycinemia
- OMIM:610246 Spinocerebellar ataxia 28
- OMIM:606002 Spinocerebellar ataxia, autosomal recessive 1
- OMIM:183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T-HELPER CELLS
- ORPHA:93357 SPONASTRIME dysplasia
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- OMIM:271510 Spondyloepimetaphyseal dysplasia, Sponastrime type
- OMIM:615934 STING-associated vasculopathy, infantile-onset
- ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy
- ORPHA:48377 Subcorneal pustular dermatosis
- ORPHA:251639 Subependymoma
- ORPHA:84064 Syndromic diarrhea
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
- ORPHA:284227 TEMPI syndrome
- ORPHA:3305 Tetraploidy
- OMIM:313900 Thrombocytopenia 1
- OMIM:314000 Thrombocytopenia with elevated serum IgA and renal disease
- ORPHA:83471 Thymic aplasia
- ORPHA:100100 Thymic tumor
- ORPHA:99867 Thymoma
- ORPHA:297 Tick-borne encephalitis
- ORPHA:859 Transcobalamin deficiency
- OMIM:275350 Transcobalamin II deficiency
- OMIM:275370 Tricarboxylic acid cycle, defect of
- ORPHA:863 Trichinellosis
- OMIM:222470 Trichohepatoenteric syndrome 1
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:616395 Trichothiodystrophy 3, photosensitive
- OMIM:300953 Trichothiodystrophy 5, nonphotosensitive
- ORPHA:3376 Triploidy
- ORPHA:1699 Trisomy 12p
- ORPHA:261318 Trisomy 20p
- ORPHA:1738 Trisomy 4p
- ORPHA:1742 Trisomy 5p
- ORPHA:1752 Trisomy 8q
- ORPHA:3375 Trisomy X
- OMIM:191100 Tuberous sclerosis-1
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- ORPHA:3392 Tularemia
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192430 Velocardiofacial syndrome
- ORPHA:505395 Ventilator-induced diaphragmatic dysfunction
- OMIM:201475 Very long-chain acyl-CoA dehydrogenase deficiency
- ORPHA:1493 Vici syndrome
- OMIM:242840 Vici syndrome
- OMIM:619472 VISS syndrome
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:2571 X-linked immunoneurologic disorder
- ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome
- ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
- ORPHA:2442 X-linked lymphoproliferative disease
- 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
- OMIM:610965 XFE progeroid syndrome
- ORPHA:1643 Xp22.3 microdeletion 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
Nom du gène
- CA2
- CACNA1S
- CAMKMT
- CARD10
- CARD11
- CARD9
- CARMIL2
- CARS1
- CARS2
- CASP10
- CASP8
- CAVIN1
- CCBE1
- CCND1
- CD19
- CD247
- CD27
- CD28
- CD3D
- CD3E
- CD3G
- CD40
- CD40LG
- CD55
- CD70
- CD79A
- CD79B
- CD81
- CDAN1
- CDCA7
- CDK5
- CDSN
- CHCHD10
- CIITA
- CISD2
- CLCN7
- CLN3
- CLN5
- CLN6
- CLN8
- COA3
- COA5
- COA6
- COA8
- COG6
- COL1A1
- COL7A1
- COMT
- COX15
- COX16
- COX20
- COX4I1
- COX5A
- COX6A2
- CPT2
- CR2
- CSNK2A1
- CTLA4
- CTNNBL1
- CTNS
- CTPS1
- CTSD
- CXCR4
- CYBA
- CYBB
- CYC1
- CYP27A1
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
- MAD2L2
- MAGT1
- MAN2B1
- MCCC2
- MCM10
- MCM4
- MCOLN1
- MCPH1
- MDM4
- MECP2
- MECR
- MFF
- MGAT2
- MGME1
- MIEF2
- MMEL1
- MMP1
- MOGS
- MPLKIP
- MPV17
- MRE11
- MRM2
- MRPL12
- MRPS14
- MRPS16
- MRPS23
- MRPS25
- MRTFA
- MS4A1
- MS4A2
- MSN
- MST1
- 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-TE
- MT-TF
- MT-TH
- MT-TL1
- MT-TL2
- MT-TN
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TW
- MTFMT
- MTHFD1
- MTOR
- MTRFR
- MUC5B
- MVK
- MYD88
- MYH14
- MYH7
- MYSM1
Nom du gène
- NADK2
- NAXE
- NBN
- NCKAP1L
- NDRG1
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- NDUFA6
- NDUFA8
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB7
- NDUFB9
- NDUFC2
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NEUROG3
- NF2
- NFE2L2
- NFKB1
- NFKB2
- NFS1
- NFU1
- NHEJ1
- NHLRC2
- NKX2-5
- NLRC4
- NLRP1
- NOTCH3
- NRAS
- NSMCE3
- NSUN3
- NUBPL
Nom du gène
Nom du gène
Nom du gène
Nom du gène
- SAMD9L
- SASH3
- SCARB2
- SCO1
- SCO2
- SDHA
- SDHB
- SDHD
- SEC23B
- SEC24C
- SEMA4D
- SETX
- SFTPA2
- SFTPC
- SH2D1A
- SH3KBP1
- SHH
- SIK3
- SKIC2
- SKIC3
- SLC19A3
- SLC22A5
- SLC25A10
- SLC25A13
- SLC25A20
- SLC25A26
- SLC25A3
- SLC25A4
- SLC2A1
- SLC34A1
- SLC35C1
- SLC39A4
- SLC39A7
- SLC39A8
- SLC3A1
- SLC46A1
- SLC5A6
- SLC7A7
- SLX4
- SMARCAL1
- SMARCB1
- SMARCE1
- SMO
- SON
- SP110
- SPG7
- SPI1
- SPIB
- SPINK5
- SPPL2A
- SQSTM1
- SRP54
- STAT1
- STAT2
- STAT3
- STAT5B
- STIM1
- STING1
- STX11
- STXBP2
- SUCLA2
- SUCLG1
- SUFU
- SUN5
- SURF1
- SYK
Nom du gène
- TACO1
- TAFAZZIN
- TARDBP
- TARS1
- TBK1
- TBX1
- TCF3
- TCF4
- TCN2
- TERT
- TET2
- TFRC
- TGFB1
- TIMM22
- TIMM50
- TIMM8A
- TIMMDC1
- TINF2
- TK2
- TLR8
- TMEM126B
- TMEM185A
- TMEM70
- TNFRSF11A
- TNFRSF11B
- TNFRSF13B
- TNFRSF13C
- TNFRSF1B
- TNFSF12
- TNFSF15
- TNNI3
- TNPO3
- TOM1
- TONSL
- TOP3A
- TP53
- TPP1
- TPP2
- TRAF7
- TRIP13
- TRIT1
- TRMT5
- TRMU
- TRNT1
- TSC1
- TSFM
- TTC7A
- TTN
- TUBB8
- TWNK
- TXN2
- TYK2
- TYMP
- TYMS
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
