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Abnormality of the endocrine system
Code Aire thérapeutique (HPO) :
HP:0000818Panel «Abnormality of the endocrine system» :
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Code pathologie
Nom de la pathologie
- ORPHA:94063 12q14 microdeletion syndrome
- ORPHA:264200 14q22q23 microdeletion syndrome
- ORPHA:94065 15q24 microdeletion syndrome
- ORPHA:485405 16p12.1p12.3 triplication syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:261265 17q12 microdeletion syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:217340 17q21.31 microduplication syndrome
- ORPHA:529962 17q24.2 microdeletion syndrome
- ORPHA:254346 19p13.12 microdeletion syndrome
- ORPHA:447980 19p13.3 microduplication syndrome
- ORPHA:1606 1p36 deletion syndrome
- ORPHA:250999 1q41q42 microdeletion syndrome
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:1727 22q11.2 duplication syndrome
- ORPHA:261349 2p15p16.1 microdeletion syndrome
- ORPHA:163693 2p21 microdeletion syndrome
- ORPHA:251014 2q31.1 microdeletion syndrome
- ORPHA:939 3-hydroxyisobutyric aciduria
- ORPHA:445038 3-methylglutaconic aciduria type 7
- ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- ORPHA:7 3C syndrome
- ORPHA:8 47,XYY syndrome
- ORPHA:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:99329 48,XYYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- ORPHA:261534 49,XXXYY syndrome
- ORPHA:99330 49,XYYYY syndrome
- ORPHA:289494 4H leukodystrophy
- ORPHA:96092 8p inverted duplication/deletion syndrome
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:251076 8p23.1 duplication syndrome
- ORPHA:178303 8q22.1 microdeletion syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
- ORPHA:324313 9p13 microdeletion syndrome
- ORPHA:401923 9q31.1q31.3 microdeletion syndrome
Code pathologie
Nom de la pathologie
- ORPHA:85445 AA amyloidosis
- ORPHA:439232 AApoAIV amyloidosis
- OMIM:305400 Aarskog-Scott syndrome
- OMIM:615812 Abdominal obesity-metabolic syndrome 3
- OMIM:618620 Abdominal obesity-metabolic syndrome 4
- ORPHA:14 Abetalipoproteinemia
- ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
- ORPHA:926 Acatalasemia
- OMIM:604290 ACERULOPLASMINEMIA
- ORPHA:48818 Aceruloplasminemia
- ORPHA:99736 Acetazolamide-responsive myotonia
- OMIM:231550 Achalasia-Addisonianism-Alacrima syndrome
- OMIM:200900 Achondroplasia, so-called, and severe combined immunodeficiency
- OMIM:615961 Acid-labile subunit, deficiency of
- ORPHA:40366 Acitretin/etretinate embryopathy
- ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage
- ORPHA:95626 Acquired central diabetes insipidus
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:2008 Acrocardiofacial syndrome
- OMIM:201100 Acrodermatitis enteropathica, Zinc-Deficiency type
- ORPHA:950 Acrodysostosis
- OMIM:101800 Acrodysostosis 1, with or without hormone resistance
- OMIM:614613 Acrodysostosis 2 with or without hormone resistance
- ORPHA:280651 Acrodysostosis with multiple hormone resistance
- ORPHA:963 Acromegaly
- OMIM:603671 Acromelic frontonasal dysostosis
- ORPHA:1827 Acromelic frontonasal dysplasia
- OMIM:609441 Acromesomelic dysplasia, Demirhan type
- ORPHA:2980 Acrootoocular syndrome
- OMIM:201400 Acth deficiency, isolated
- OMIM:219080 ACTH-independent macronodular adrenal hyperplasia
- OMIM:615954 ACTH-independent macronodular adrenal hyperplasia 2
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion
- ORPHA:90062 Acute liver failure
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:85138 Addison disease
- ORPHA:95512 Adenohypophysitis
- OMIM:175100 Adenomatous polyposis coli
- ORPHA:36397 Adiposis dolorosa
- OMIM:202010 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
- OMIM:202110 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
- OMIM:201810 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
- OMIM:300200 Adrenal hypoplasia, congenital
- OMIM:202150 Adrenal hypoplasia, congenital, with absent pituitary luteinizinghormone
- OMIM:202155 Adrenal hypoplasia, Cytomegalic type
- OMIM:613743 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
- ORPHA:1501 Adrenocortical carcinoma
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- OMIM:202300 Adrenocortical carcinoma, pediatric
- OMIM:103230 Adrenocortical hypofunction, chronic primary congenital
- OMIM:202355 Adrenocortical unresponsiveness to acth with postreceptor defect
- OMIM:300100 Adrenoleukodystrophy
- ORPHA:139399 Adrenomyeloneuropathy
- ORPHA:977 Adrenomyodystrophy
- OMIM:300270 ADRENOMYODYSTROPHY
- ORPHA:70578 Adult acute respiratory distress syndrome
- ORPHA:139507 African iron overload
- ORPHA:3385 African trypanosomiasis
- OMIM:619707 Agammaglobulinemia 10, autosomal dominant
- ORPHA:50 Aicardi syndrome
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619487 Aicardi-Goutieres syndrome 9
- ORPHA:79085 AKT2-related familial partial lipodystrophy
- OMIM:615510 Alacrima, achalasia, and mental retardation syndrome
- ORPHA:52 Alagille syndrome
- OMIM:118450 Alagille syndrome 1
- OMIM:202900 Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
- OMIM:103900 Aldosteronism, glucocorticoid-remediable
- ORPHA:58 Alexander disease
- ORPHA:79324 ALG12-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79320 ALG6-CDG
- ORPHA:59 Allan-Herndon-Dudley syndrome
- OMIM:300523 Allan-Herndon-Dudley syndrome
- ORPHA:93925 Alobar holoprosencephaly
- OMIM:612079 Alopecia, neurologic defects, and endocrinopathy syndrome
- ORPHA:2850 Alopecia-intellectual disability syndrome
- ORPHA:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
- ORPHA:61 Alpha-mannosidosis
- OMIM:614307 Alpha-methylacyl-CoA racemase deficiency
- OMIM:301050 Alport syndrome, X-linked
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- ORPHA:284 Alveolar echinococcosis
- OMIM:619151 AMED syndrome, digenic
- OMIM:104600 Amenorrhea-Galactorrhea syndrome
- ORPHA:68 Amoebiasis due to free-living amoebae
- ORPHA:142 Anaplastic thyroid carcinoma
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- ORPHA:37553 Andersen-Tawil syndrome
- ORPHA:754 Androgen insensitivity syndrome
- OMIM:300068 Androgen insensitivity syndrome
- ORPHA:157954 ANE syndrome
- OMIM:613673 Anemia, dyserythropoietic congenital, type IV
- OMIM:615234 Anemia, hypochromic microcytic, with iron overload 2
- OMIM:616860 Anemia, sideroblastic, 3, pyridoxine-refractory
- ORPHA:72 Angelman syndrome
- OMIM:601427 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- ORPHA:247806 APC-related attenuated familial adenomatous polyposis
- OMIM:218030 Apparent mineralocorticoid excess
- ORPHA:320 Apparent mineralocorticoid excess
- ORPHA:2356 Arachnoid cyst
- ORPHA:1133 AREDYLD syndrome
- OMIM:613546 Aromatase deficiency
- ORPHA:91 Aromatase deficiency
- ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome
- OMIM:208060 Arteriosclerosis, severe juvenile
- OMIM:601701 Arthrogryposis and ectodermal dysplasia
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- ORPHA:1253 Ascher syndrome
- ORPHA:96 Ataxia with vitamin E deficiency
- OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
- ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- ORPHA:251347 Ataxia-telangiectasia-like disorder
- OMIM:209010 Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease
- ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- ORPHA:95713 Athyreosis
- ORPHA:220460 Attenuated familial adenomatous polyposis
- ORPHA:79474 Atypical Werner syndrome
- OMIM:209850 Autism susceptibility 1
- OMIM:300425 Autism susceptibility, X-linked 1
- OMIM:300496 Autism susceptibility, X-linked 3
- OMIM:608049 Autism, susceptibility to, 3
- OMIM:607373 Autism, susceptibility to, 8
- OMIM:300495 Autism, susceptibility to, X-linked 2
- OMIM:615952 Autoimmune disease, multisystem, infantile-onset, 1
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- OMIM:607836 Autoimmune disease, susceptibility to, 1
- ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:2137 Autoimmune hepatitis
- ORPHA:36913 Autoimmune hypoparathyroidism
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:269200 Autoimmune polyendocrine syndrome, type II
- OMIM:240300 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
- ORPHA:3453 Autoimmune polyendocrinopathy type 1
- ORPHA:3143 Autoimmune polyendocrinopathy type 2
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- OMIM:608175 Autoimmune thyroid disease, susceptibility to, 3
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:618999 Autoinflammation, immune dysregulation, and eosinophilia
- OMIM:619375 Autoinflammatory syndrome, familial, with or without immunodeficiency
- OMIM:619858 Autoinflammatory-pancytopenia syndrome
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia
- ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency
- ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome
- ORPHA:1215 Autosomal dominant optic atrophy plus syndrome
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- ORPHA:730 Autosomal dominant polycystic kidney disease
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome
- ORPHA:2990 Autosomal recessive multiple pterygium syndrome
- ORPHA:100996 Autosomal recessive spastic paraplegia type 15
- ORPHA:101006 Autosomal recessive spastic paraplegia type 26
- ORPHA:401810 Autosomal recessive spastic paraplegia type 64
- ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:782 Axenfeld-Rieger syndrome
- OMIM:180500 Axenfeld-Rieger syndrome, type 1
Code pathologie
Nom de la pathologie
- ORPHA:79332 B4GALT1-CDG
- OMIM:615485 Bainbridge-Ropers syndrome
- ORPHA:1226 Bamforth-Lazarus syndrome
- ORPHA:1227 Bangstad syndrome
- OMIM:210740 Bangstad syndrome
- OMIM:153480 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:110 Bardet-Biedl syndrome
- OMIM:209900 Bardet-Biedl syndrome 1
- OMIM:615987 Bardet-Biedl syndrome 10
- OMIM:615988 Bardet-Biedl syndrome 11
- OMIM:615989 Bardet-Biedl syndrome 12
- OMIM:615993 Bardet-Biedl syndrome 16
- OMIM:615994 Bardet-Biedl syndrome 17
- OMIM:615996 Bardet-Biedl syndrome 19
- OMIM:615981 Bardet-Biedl syndrome 2
- OMIM:619471 Bardet-Biedl syndrome 20
- OMIM:617119 Bardet-Biedl syndrome 22
- OMIM:615982 Bardet-Biedl syndrome 4
- OMIM:615983 Bardet-Biedl syndrome 5
- OMIM:605231 Bardet-Biedl syndrome 6
- OMIM:615984 Bardet-Biedl syndrome 7
- OMIM:615985 Bardet-Biedl syndrome 8
- ORPHA:89938 Bartter syndrome type 4
- OMIM:601678 Bartter syndrome, type 1, antenatal
- OMIM:241200 Bartter syndrome, type 2
- OMIM:607364 Bartter syndrome, type 3
- OMIM:602522 Bartter syndrome, type 4A, neonatal, with sensorineural deafness
- OMIM:613090 Bartter syndrome, type 4B, neonatal, with sensorineural deafness
- OMIM:300971 Bartter syndrome, type 5, antenatal, transient
- OMIM:301032 Basilicata-Akhtar syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:252164 Benign schwannoma
- ORPHA:848 Beta-thalassemia
- ORPHA:231222 Beta-thalassemia intermedia
- ORPHA:231214 Beta-thalassemia major
- OMIM:210350 Biemond syndrome II
- ORPHA:141333 Biemond syndrome type 2
- OMIM:608980 Bifid nose with or without anorectal and renal anomalies
- ORPHA:98889 Bilateral perisylvian polymicrogyria
- ORPHA:268940 Bilateral polymicrogyria
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:122 Birt-Hogg-Dubé syndrome
- OMIM:262000 Bjornstad syndrome
- ORPHA:123 Björnstad syndrome
- OMIM:109900 Blepharochalasis and double lip
- OMIM:110100 Blepharophimosis, epicanthus inversus, and ptosis
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- ORPHA:94086 Blue diaper syndrome
- OMIM:617885 Body mass index quantitative trait locus 19
- OMIM:618406 Body mass index quantitative trait locus 20
- OMIM:620044 Bone marrow failure and diabetes mellitus syndrome
- OMIM:618165 Bone marrow failure syndrome 5
- OMIM:618849 Bone marrow failure syndrome 6
- ORPHA:1261 Bonnemann-Meinecke-Reich syndrome
- ORPHA:1263 Boomerang dysplasia
- OMIM:301900 Borjeson-Forssman-Lehmann syndrome
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:603457 Bosma arhinia microphthalmia syndrome
- OMIM:215470 Boucher-Neuhauser syndrome
- OMIM:211369 Brachydactyly, type A2, with microcephaly
- ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome
- OMIM:612847 Brachyolmia 4 with mild epiphyseal and metaphyseal changes
- ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- ORPHA:209905 Brain-lung-thyroid syndrome
- OMIM:113620 Branchiooculofacial syndrome
- OMIM:113650 Branchiootorenal syndrome 1
- ORPHA:97287 Bronchial neuroendocrine tumor
- ORPHA:703 Bullous pemphigoid
Code pathologie
Nom de la pathologie
- ORPHA:280062 Calciphylaxis
- OMIM:131300 Camurati-Engelmann disease
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:606631 Camurati-engelmann disease, type 2
- OMIM:618373 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
- ORPHA:71505 Cancer-associated retinopathy
- OMIM:114580 Candidiasis, familial chronic mucocutaneous, autosomal dominant
- ORPHA:100093 Carcinoid syndrome
- OMIM:114900 Carcinoid tumors, intestinal
- OMIM:615280 Cardiofaciocutaneous syndrome 4
- ORPHA:1359 Carney complex
- OMIM:160980 Carney complex, type 1
- ORPHA:139411 Carney triad
- OMIM:606864 Carney-Stratakis syndrome
- ORPHA:97286 Carney-Stratakis syndrome
- OMIM:201000 Carpenter syndrome 1
- ORPHA:1383 Cataract-deafness-hypogonadism syndrome
- ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- ORPHA:3027 Caudal regression syndrome
- ORPHA:66631 CEDNIK syndrome
- OMIM:212750 Celiac disease, susceptibility to, 1
- ORPHA:3258 Cenani-Lenz syndrome
- ORPHA:178029 Central diabetes insipidus
- ORPHA:759 Central precocious puberty
- OMIM:212840 Cerebellar ataxia and hypogonadotropic hypogonadism
- OMIM:604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
- ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome
- OMIM:619761 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
- ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- ORPHA:314679 Cerebrofacioarticular syndrome
- ORPHA:909 Cerebrotendinous xanthomatosis
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- OMIM:118350 Chemodectoma, intraabdominal, with cutaneous angiolipomas
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:75234 Cholesteryl ester storage disease
- OMIM:302950 Chondrodysplasia punctata 1, X-linked recessive
- OMIM:610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
- OMIM:608636 Chromosome 15q11-q13 duplication syndrome
- OMIM:616863 Chromosome 16p13.2 deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:607872 Chromosome 1p36 deletion syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome
- OMIM:300942 Chromosome Xq26.3 duplication syndrome
- OMIM:300869 Chromosome xq27.3-q28 duplication syndrome
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- ORPHA:435651 CIDEC-related familial partial lipodystrophy
- OMIM:617577 Ciliary dyskinesia, primary, 37
- OMIM:619273 Cimdag syndrome
- ORPHA:247585 Citrullinemia type II
- ORPHA:79239 Classic galactosemia
- ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- OMIM:216100 Cleft lip/palate with abnormal thumbs and microcephaly
- OMIM:601165 Cleft lip/palate with characteristic facies, intestinal malrotation,and lethal congenital heart disease
- ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome
- ORPHA:228346 CLN3 disease
- ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy
- ORPHA:228123 Coccidioidomycosis
- ORPHA:191 Cockayne syndrome
- OMIM:216400 Cockayne syndrome A
- ORPHA:90321 Cockayne syndrome type 1
- ORPHA:90322 Cockayne syndrome type 2
- OMIM:607426 Coenzyme Q10 deficiency, primary, 1
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:619325 Coffin-Siris syndrome 12
- OMIM:615866 Coffin-Siris syndrome 9
- ORPHA:1466 COFS syndrome
- ORPHA:435934 COG2-CDG
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:193 Cohen syndrome
- OMIM:216550 Cohen syndrome
- OMIM:601794 Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome
- ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- ORPHA:436252 Combined immunodeficiency-enteropathy spectrum
- OMIM:616430 Combined oxidative phosphorylation deficiency 25
- OMIM:617713 Combined oxidative phosphorylation deficiency 33
- OMIM:617872 Combined oxidative phosphorylation deficiency 34
- OMIM:618835 Combined oxidative phosphorylation deficiency 40
- OMIM:618838 Combined oxidative phosphorylation deficiency 41
- OMIM:618839 Combined oxidative phosphorylation deficiency 42
- OMIM:619025 Combined oxidative phosphorylation deficiency 50
- OMIM:619386 Combined oxidative phosphorylation deficiency 52
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- OMIM:613783 Complement component c1s deficiency
- ORPHA:99429 Complete androgen insensitivity syndrome
- ORPHA:3216 Conductive deafness-malformed external ear syndrome
- OMIM:600624 Cone-Rod dystrophy 1
- ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- ORPHA:1195 Congenital atransferrinemia
- ORPHA:79095 Congenital bile acid synthesis defect type 4
- OMIM:604168 Congenital cataracts, facial dysmorphism, and neuropathy
- ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:602579 Congenital disorder of glycosylation, type Ib
- OMIM:608104 Congenital disorder of glycosylation, type Ih
- OMIM:607906 Congenital disorder of glycosylation, type Ii
- OMIM:617395 Congenital disorder of glycosylation, type IIq
- OMIM:618885 Congenital disorder of glycosylation, type IIt
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- OMIM:608540 Congenital disorder of glycosylation, type Ik
- OMIM:614921 Congenital disorder of glycosylation, type It
- ORPHA:528 Congenital generalized lipodystrophy
- OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ORPHA:442 Congenital hypothyroidism
- ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs
- ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- ORPHA:199296 Congenital isolated ACTH deficiency
- ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency
- ORPHA:2430 Congenital macroglossia
- ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:290 Congenital rubella syndrome
- ORPHA:95459 Congenital tricuspid stenosis
- ORPHA:860 Congenitally uncorrected transposition of the great arteries
- ORPHA:199 Cornelia de Lange syndrome
- OMIM:300882 Cornelia de Lange syndrome 5
- OMIM:610947 Coronary artery disease, autosomal dominant 2
- OMIM:608320 Coronary artery disease, autosomal dominant, 1
- OMIM:611489 Corticosteroid-binding globulin deficiency
- OMIM:203400 Corticosterone methyloxidase type I deficiency
- OMIM:604931 Cortisone reductase deficiency 1
- OMIM:614662 Cortisone reductase deficiency 2
- ORPHA:201 Cowden syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:615108 Cowden syndrome 5
- OMIM:615109 Cowden syndrome 6
- OMIM:616858 Cowden syndrome 7
- OMIM:612359 Cowden-Like syndrome
- ORPHA:202 Crandall syndrome
- OMIM:218200 Cranial nerves, recurrent paresis of
- OMIM:122860 Craniodiaphyseal dysplasia, autosomal dominant
- OMIM:614195 Craniofacial anomalies and anterior segment dysgenesis syndrome
- OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- ORPHA:54595 Craniopharyngioma
- OMIM:600775 Craniosynostosis 4
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- OMIM:615849 Culler-Jones syndrome
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia
- ORPHA:79140 Cutaneous neuroendocrine carcinoma
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- ORPHA:1556 Cutis marmorata telangiectatica congenita
- OMIM:304200 Cutis verticis gyrata, thyroid aplasia, and mental retardation
- ORPHA:213 Cystinosis
- OMIM:219800 Cystinosis, nephropathic
Code pathologie
Nom de la pathologie
- OMIM:261515 D-bifunctional protein deficiency
- ORPHA:1563 Dahlberg-Borer-Newcomer syndrome
- ORPHA:300536 DDOST-CDG
- OMIM:600791 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
- OMIM:221300 Deafness, conductive, with malformed external ear
- OMIM:220900 Deafness, congenital, with total albinism
- OMIM:221750 Deafness, sensorineural, with pituitary dwarfism
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:90646 Deafness-hypogonadism syndrome
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- OMIM:619004 Deeah syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:147892 Deiodinase, iodothyronine, type I
- OMIM:619613 Delayed puberty, self-limited
- OMIM:619877 Dentici-Novelli neurodevelopmental syndrome
- OMIM:619983 Developmental and epileptic encephalopathy 105 with hypopituitarism
- OMIM:301058 Developmental and epileptic encephalopathy 90
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:520000 Diabetes and deafness, maternally inherited
- OMIM:125800 Diabetes insipidus, nephrogenic, 2
- OMIM:304800 Diabetes insipidus, nephrogenic, X-linked
- OMIM:125700 Diabetes insipidus, Neurohypophyseal type
- OMIM:304900 Diabetes insipidus, Neurohypophyseal type
- OMIM:601942 Diabetes mellitus, insulin-dependent, 10
- OMIM:601666 Diabetes mellitus, insulin-dependent, 15
- OMIM:125852 Diabetes mellitus, insulin-dependent, 2
- OMIM:612520 Diabetes mellitus, insulin-dependent, 20
- OMIM:601941 Diabetes mellitus, insulin-dependent, 6
- OMIM:222100 Diabetes mellitus, insulin-dependent-1
- OMIM:612227 Diabetes mellitus, ketosis-prone
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- OMIM:125853 Diabetes mellitus, noninsulin-dependent
- OMIM:606176 Diabetes mellitus, permanent neonatal 1
- OMIM:618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features
- OMIM:618858 Diabetes mellitus, permanent neonatal 4
- OMIM:610374 Diabetes mellitus, transient neonatal 2
- OMIM:601410 Diabetes mellitus, transient neonatal, 1
- OMIM:610582 Diabetes mellitus, transient neonatal, 3
- OMIM:618856 Diabetes, permanent neonatal 2, with or without neurologic features
- OMIM:214700 Diarrhea 1, secretory chloride, congenital
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- ORPHA:1672 Diencephalic syndrome
- OMIM:188400 Digeorge syndrome
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- ORPHA:2983 Disorder of sex development-intellectual disability syndrome
- OMIM:613571 Disordered steroidogenesis due to cytochrome P450 oxidoreductase
- ORPHA:96149 Distal monosomy 12q
- ORPHA:1590 Distal monosomy 13q
- ORPHA:1596 Distal monosomy 15q
- ORPHA:293939 Distal Xq28 microduplication syndrome
- ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:231226 Dominant beta-thalassemia
- OMIM:246200 Donohue syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3426 Double outlet right ventricle
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:235 Dubowitz syndrome
- ORPHA:100076 Duodenal neuroendocrine tumor
- OMIM:126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION
- ORPHA:314621 Duplication of the pituitary gland
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- ORPHA:412 Dysbetalipoproteinemia
- ORPHA:1775 Dyskeratosis congenita
- OMIM:619647 Dyskinesia with orofacial involvement, autosomal recessive
- ORPHA:589618 Dystonia 28
- OMIM:145680 Dystransthyretinemic euthyroidal hyperthyroxinemia
Code pathologie
Nom de la pathologie
- ORPHA:1934 Early infantile epileptic encephalopathy
- ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes
- ORPHA:556030 Early-onset familial hypoaldosteronism
- ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- ORPHA:199343 EAST syndrome
- OMIM:129550 Ectodermal dysplasia with adrenal cyst
- OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum
- OMIM:225050 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- ORPHA:231632 Ectopic aldosterone-producing tumor
- OMIM:604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
- OMIM:129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1
- OMIM:129840 Edema, familial idiopathic, prepubertal
- ORPHA:1896 EEC syndrome
- ORPHA:96170 Emanuel syndrome
- ORPHA:1031 Enamel-renal syndrome
- ORPHA:2022 Endocardial fibroelastosis
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- ORPHA:83620 Enteric anendocrinosis
- ORPHA:46487 Epidermolysis bullosa acquisita
- OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
- ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- ORPHA:35687 Erdheim-Chester disease
- OMIM:263400 Erythrocytosis, familial, 2
- OMIM:611783 Erythrocytosis, familial, 4
- OMIM:617907 Erythrocytosis, familial, 5
- ORPHA:317 Erythrokeratodermia variabilis
- ORPHA:1199 Esophageal atresia
- OMIM:615363 Estrogen resistance
- ORPHA:785 Estrogen resistance syndrome
- ORPHA:494424 Extracranial carotid artery aneurysm
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- ORPHA:733 Familial adenomatous polyposis
- OMIM:617100 Familial adenomatous polyposis 4
- ORPHA:36382 Familial cervical artery dissection
- ORPHA:444490 Familial chylomicronemia syndrome
- OMIM:614468 Familial cold autoinflammatory syndrome 3
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:238722 Familial congenital mirror movements
- OMIM:615999 Familial dysalbuminemic hyperthyroxinemia
- ORPHA:99819 Familial gestational hyperthyroidism
- ORPHA:361 Familial glucocorticoid deficiency
- ORPHA:403 Familial hyperaldosteronism type I
- ORPHA:404 Familial hyperaldosteronism type II
- ORPHA:251274 Familial hyperaldosteronism type III
- ORPHA:397685 Familial hyperprolactinemia
- ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor
- ORPHA:427 Familial hypoaldosteronism
- ORPHA:99879 Familial isolated hyperparathyroidism
- ORPHA:2238 Familial isolated hypoparathyroidism
- ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
- ORPHA:3000 Familial male-limited precocious puberty
- ORPHA:276399 Familial multinodular goiter
- ORPHA:1333 Familial pancreatic carcinoma
- ORPHA:319487 Familial papillary or follicular thyroid carcinoma
- ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia
- ORPHA:2348 Familial partial lipodystrophy, Dunnigan type
- ORPHA:79084 Familial partial lipodystrophy, Köbberling type
- ORPHA:79147 Familial reactive perforating collagenosis
- ORPHA:69076 Familial renal glucosuria
- ORPHA:95716 Familial thyroid dyshormonogenesis
- ORPHA:2604 Familial visceral myopathy
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:227645 Fanconi anemia, complementation group C
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:600901 Fanconi anemia, complementation group E
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:609053 Fanconi anemia, complementation group I
- OMIM:617784 Fanconi anemia, complementation group W
- OMIM:616026 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- ORPHA:2088 Fanconi-Bickel syndrome
- OMIM:619376 Faundes-Banka syndrome
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- OMIM:228355 Fetal iodine deficiency disorder
- ORPHA:1910 Fetal iodine syndrome
- OMIM:228400 Fever, familial lifelong persistent
- ORPHA:93932 FG syndrome type 1
- OMIM:228800 Fibrosclerosis, multifocal
- ORPHA:249 Fibrous dysplasia of bone
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:2047 Flynn-Aird syndrome
- ORPHA:2048 Foix-Chavany-Marie syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:347 Frasier syndrome
- OMIM:617137 Frontometaphyseal dysplasia 2
- ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome
- ORPHA:391474 Frontorhiny
- ORPHA:349 Fucosidosis
- ORPHA:91348 Functioning gonadotropic adenoma
Code pathologie
Nom de la pathologie
- ORPHA:506358 Gabriele-de Vries syndrome
- ORPHA:90041 Gaisböck syndrome
- ORPHA:79237 Galactokinase deficiency
- OMIM:230400 GALACTOSEMIA
- ORPHA:352 Galactosemia
- ORPHA:100086 Gallbladder neuroendocrine tumor
- OMIM:619609 Galloway-Mowat syndrome 10
- OMIM:618347 Galloway-Mowat syndrome 6
- ORPHA:251937 Gangliocytoma
- ORPHA:251992 Ganglioneuroma
- ORPHA:2067 GAPO syndrome
- ORPHA:79665 Gardner syndrome
- ORPHA:2069 Gastrocutaneous syndrome
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- ORPHA:77261 Gaucher disease type 3
- ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- ORPHA:438274 GCGR-related hyperglucagonemia
- ORPHA:2074 Gemignani syndrome
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:786 Generalized glucocorticoid resistance syndrome
- ORPHA:171876 Generalized pseudohypoaldosteronism type 1
- ORPHA:226316 Genetic transient congenital hypothyroidism
- ORPHA:643 Giant axonal neuropathy
- ORPHA:397 Giant cell arteritis
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- OMIM:619243 Global developmental delay with speech and behavioral abnormalities
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- ORPHA:97280 Glucagonoma
- OMIM:202200 Glucocorticoid deficiency 1
- OMIM:607398 Glucocorticoid deficiency 2
- OMIM:609197 Glucocorticoid deficiency 3
- OMIM:614736 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
- OMIM:617825 Glucocorticoid deficiency 5
- OMIM:231690 Glutaric aciduria III
- OMIM:307030 Glycerol kinase deficiency
- ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency
- ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
- ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency
- OMIM:232200 Glycogen storage disease Ia
- OMIM:232220 Glycogen storage disease Ib
- OMIM:232240 Glycogen storage disease Ic
- ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- OMIM:611881 Glycogen storage disease XII
- ORPHA:602 GNE myopathy
- OMIM:138800 Goiter, multinodular 1
- OMIM:300273 Goiter, multinodular 2
- OMIM:138790 Goiter, multinodular, cystic renal disease, and digital anomalies
- OMIM:233270 Gombo syndrome
- OMIM:601853 Gomez-Lopez-Hernandez syndrome
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- ORPHA:206484 Gonadoblastoma
- ORPHA:169105 Good syndrome
- ORPHA:377 Gorlin syndrome
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:275000 Graves disease
- OMIM:215140 Greenberg skeletal dysplasia
- ORPHA:97261 GRFoma
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- OMIM:615925 Growth hormone deficiency, isolated partial
- OMIM:262400 Growth hormone deficiency, isolated, type IA
- OMIM:612781 Growth hormone deficiency, isolated, type IB
- OMIM:618157 Growth hormone deficiency, isolated, type IV
- ORPHA:181393 Growth hormone insensitivity syndrome
- OMIM:245590 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
- OMIM:604271 Growth hormone insensitivity, partial
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:611174 Hamamy syndrome
- OMIM:301068 Hardikar syndrome
- OMIM:615465 Hartsfield syndrome
- OMIM:140300 Hashimoto thyroiditis
- ORPHA:2118 Hawkinsinuria
- OMIM:617671 Helix syndrome
- OMIM:615873 Helsmoortel-van der Aa syndrome
- ORPHA:79230 Hemochromatosis type 2
- OMIM:235200 Hemochromatosis, type 1
- OMIM:602390 Hemochromatosis, type 2A
- OMIM:613313 Hemochromatosis, type 2B
- OMIM:604250 Hemochromatosis, type 3
- OMIM:606069 Hemochromatosis, type 4
- OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome
- ORPHA:3325 Heparin-induced thrombocytopenia
- OMIM:142330 Hepatic adenomas, familial
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- OMIM:618549 Hepatitis, fulminant viral, susceptibility to
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:85450 Hereditary amyloidosis with primary renal involvement
- ORPHA:30925 Hereditary central diabetes insipidus
- ORPHA:676 Hereditary chronic pancreatitis
- ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria
- ORPHA:157794 Hereditary mixed polyposis syndrome
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:2139 Hernández-Aguirre Negrete syndrome
- ORPHA:388 Hirschsprung disease
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:2162 Holoprosencephaly
- OMIM:236100 Holoprosencephaly 1
- OMIM:618500 Holoprosencephaly 12 with or without pancreatic agenesis
- OMIM:157170 Holoprosencephaly 2
- OMIM:142945 Holoprosencephaly 3
- OMIM:609637 Holoprosencephaly 5
- OMIM:610828 Holoprosencephaly 7
- OMIM:610829 Holoprosencephaly 9
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- OMIM:606528 Homozygous 11p15-p14 deletion syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- ORPHA:99927 Hydatidiform mole
- ORPHA:2177 Hydranencephaly
- ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome
- OMIM:236680 Hydrolethalus syndrome 1
- OMIM:613124 Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
- OMIM:605635 Hyperaldosteronism, familial, type II
- OMIM:613677 Hyperaldosteronism, familial, type III
- OMIM:617027 Hyperaldosteronism, familial, type IV
- OMIM:238320 Hypergonadotropic hypogonadism
- ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome
- OMIM:256450 Hyperinsulinemic hypoglycemia, familial, 1
- OMIM:601820 Hyperinsulinemic hypoglycemia, familial, 2
- OMIM:602485 Hyperinsulinemic hypoglycemia, familial, 3
- OMIM:609975 Hyperinsulinemic hypoglycemia, familial, 4
- OMIM:609968 Hyperinsulinemic hypoglycemia, familial, 5
- OMIM:606762 Hyperinsulinemic hypoglycemia, familial, 6
- OMIM:610021 Hyperinsulinemic hypoglycemia, familial, 7
- ORPHA:79299 Hyperinsulinism due to glucokinase deficiency
- ORPHA:324575 Hyperinsulinism due to HNF1A deficiency
- ORPHA:263455 Hyperinsulinism due to HNF4A deficiency
- ORPHA:263458 Hyperinsulinism due to INSR deficiency
- ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- ORPHA:276556 Hyperinsulinism due to UCP2 deficiency
- ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome
- OMIM:144600 Hyperlipoproteinemia, type IV
- OMIM:144650 Hyperlipoproteinemia, type V
- OMIM:238800 Hypermetabolism due to defect in mitochondria
- OMIM:144800 Hyperostosis frontalis interna
- OMIM:145000 Hyperparathyroidism 1
- OMIM:145001 Hyperparathyroidism 2
- OMIM:617343 Hyperparathyroidism 4
- OMIM:239199 Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
- OMIM:239200 Hyperparathyroidism, neonatal severe
- OMIM:600166 Hyperparathyroidism, primary, caused by water clear cell hyperplasia
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome
- OMIM:616214 Hyperproinsulinemia
- OMIM:615555 HYPERPROLACTINEMIA
- OMIM:145295 Hypersecretion of adrenal androgens, familial
- OMIM:605115 Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy
- OMIM:603373 Hyperthyroidism, familial gestational
- OMIM:609152 Hyperthyroidism, nonautoimmune
- OMIM:145750 Hypertriglyceridemia, familial
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- OMIM:240200 Hypoadrenocorticism, familial
- OMIM:610600 Hypoaldosteronism, congenital, due to CMO II deficiency
- OMIM:601198 Hypocalcemia, autosomal dominant 1
- ORPHA:289157 Hypocalcemic vitamin D-dependent rickets
- ORPHA:93160 Hypocalcemic vitamin D-resistant rickets
- OMIM:145980 Hypocalciuric hypercalcemia, familial, type I
- OMIM:145981 Hypocalciuric hypercalcemia, familial, type II
- OMIM:600740 Hypocalciuric hypercalcemia, familial, type III
- OMIM:240800 Hypoglycemia of infancy, leucine-sensitive
- OMIM:241000 Hypogonadism with low-grade mental deficiency and microcephaly
- OMIM:307500 Hypogonadism, male, with mental retardation and skeletal anomalies
- OMIM:241100 Hypogonadism, malehypogonadism and testicular atrophy, included
- OMIM:241090 Hypogonadism, primary, and partial alopecia
- OMIM:240950 Hypogonadism-Cataract syndrome
- ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- OMIM:308700 Hypogonadotropic hypogonadism 1 with or without anosmia
- OMIM:614839 Hypogonadotropic hypogonadism 10 with or without anosmia
- OMIM:614840 Hypogonadotropic hypogonadism 11 with or without anosmia
- OMIM:614841 Hypogonadotropic hypogonadism 12 with or without anosmia
- OMIM:614842 Hypogonadotropic hypogonadism 13 with or without anosmia
- OMIM:614858 Hypogonadotropic hypogonadism 14 with or without anosmia
- OMIM:614880 Hypogonadotropic hypogonadism 15 with or without anosmia
- OMIM:614897 Hypogonadotropic hypogonadism 16 with or without anosmia
- OMIM:615266 Hypogonadotropic hypogonadism 17 with or without anosmia
- OMIM:615267 Hypogonadotropic hypogonadism 18 with or without anosmia
- OMIM:615269 Hypogonadotropic hypogonadism 19 with or without anosmia
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- OMIM:615270 Hypogonadotropic hypogonadism 20 with or without anosmia
- OMIM:615271 Hypogonadotropic hypogonadism 21 with or without anosmia
- OMIM:616030 Hypogonadotropic hypogonadism 22 with or without anosmia
- OMIM:228300 Hypogonadotropic hypogonadism 23 without anosmia
- OMIM:229070 Hypogonadotropic hypogonadism 24 without anosmia
- OMIM:618841 Hypogonadotropic hypogonadism 25 with anosmia
- OMIM:619718 Hypogonadotropic hypogonadism 26 with or without anosmia
- OMIM:619755 Hypogonadotropic hypogonadism 27 without anosmia
- OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia
- OMIM:610628 Hypogonadotropic hypogonadism 4 with or without anosmia
- OMIM:612370 Hypogonadotropic hypogonadism 5 with or without anosmia
- OMIM:612702 Hypogonadotropic hypogonadism 6 with or without anosmia
- OMIM:146110 Hypogonadotropic hypogonadism 7 without anosmia
- OMIM:614837 Hypogonadotropic hypogonadism 8 with or without anosmia
- OMIM:614838 Hypogonadotropic hypogonadism 9 with or without anosmia
- ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy
- OMIM:241150 Hypokalemic alkalosis, familial, with specific renal tubulopathy
- ORPHA:681 Hypokalemic periodic paralysis
- OMIM:619406 Hypokalemic tubulopathy and deafness
- OMIM:248250 Hypomagnesemia 3, renal
- ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- OMIM:146200 Hypoparathyroidism, familial isolated
- OMIM:618883 Hypoparathyroidism, familial isolated 2
- OMIM:146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia
- OMIM:307700 Hypoparathyroidism, X-linked
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- ORPHA:437 Hypophosphatemic rickets
- OMIM:612089 Hypophosphatemic rickets and hyperparathyroidism
- OMIM:307800 Hypophosphatemic rickets, X-linked dominant
- ORPHA:2248 Hypoplastic left heart syndrome
- ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- ORPHA:90673 Hypothyroidism due to TSH receptor mutations
- OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate
- OMIM:300888 Hypothyroidism, central, and testicular enlargement
- OMIM:275200 Hypothyroidism, congenital, nongoitrous, 1
- OMIM:218700 Hypothyroidism, congenital, nongoitrous, 2
- OMIM:275100 Hypothyroidism, congenital, nongoitrous, 4
- OMIM:225250 Hypothyroidism, congenital, nongoitrous, 5
- OMIM:614450 Hypothyroidism, congenital, nongoitrous, 6
- OMIM:618573 Hypothyroidism, congenital, nongoitrous, 7
- OMIM:301033 Hypothyroidism, congenital, nongoitrous, 8
- OMIM:301035 Hypothyroidism, congenital, nongoitrous, 9
- OMIM:606407 Hypotonia-cystinuria syndrome
Code pathologie
Nom de la pathologie
- OMIM:308200 Ichthyosis and male hypogonadism
- ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- ORPHA:95717 Idiopathic congenital hypothyroidism
- ORPHA:45452 Idiopathic neonatal atrial flutter
- ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:49041 IgG4-related retroperitoneal fibrosis
- ORPHA:449432 IgG4-related submandibular gland disease
- ORPHA:64744 IgG4-related thyroid disease
- ORPHA:100078 Ileal neuroendocrine tumor
- ORPHA:85173 IMAGe syndrome
- OMIM:242700 Immune defect due to absence of thymus
- ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- OMIM:301082 Immunodeficiency 102
- OMIM:614162 Immunodeficiency 31C
- OMIM:606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity
- OMIM:616622 Immunodeficiency 42
- OMIM:609981 Immunodeficiency 54
- OMIM:619313 Immunodeficiency 80 with or without cardiomyopathy
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:301078 Immunodeficiency 98 with autoinflammation, X-linked
- OMIM:615577 Immunodeficiency, common variable, 10
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:611926 Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis
- OMIM:304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:411629 Infantile nephropathic cystinosis
- ORPHA:2176 Infantile systemic hyalinosis
- ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- ORPHA:544482 Infection-related hemolytic uremic syndrome
- ORPHA:90003 Inflammatory pseudotumor of the liver
- ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- ORPHA:411593 Insulin autoimmune syndrome
- OMIM:608747 Insulin-Like growth factor I deficiency
- OMIM:270450 Insulin-Like growth factor I, resistance to
- ORPHA:2297 Insulin-resistance syndrome type A
- ORPHA:2298 Insulin-resistance syndrome type B
- ORPHA:97279 Insulinoma
- OMIM:606960 Insulinoma tumor suppressor gene locus
- OMIM:147630 Insulinomatosis and diabetes mellitus
- OMIM:619326 Intellectual developmental disorder and hypogonadotropic hypogonadism
- OMIM:617796 Intellectual developmental disorder, autosomal dominant 52
- OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures
- OMIM:619927 Intellectual developmental disorder, autosomal dominant 67
- OMIM:617432 Intellectual developmental disorder, autosomal recessive 60
- OMIM:619931 Intellectual developmental disorder, autosomal recessive 76
- OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome
- ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome
- ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked
- ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome
- ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome
- ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
- ORPHA:363528 Intellectual disability-strabismus syndrome
- OMIM:615486 Interstitial lung and liver disease
- ORPHA:69665 Intrahepatic cholestasis of pregnancy
- OMIM:618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- OMIM:614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- OMIM:620121 Iron overload, susceptibility to
- ORPHA:98797 Isochromosomy Yp
- ORPHA:98798 Isochromosomy Yq
- ORPHA:563609 Isolated anencephaly
- ORPHA:1048 Isolated anencephaly/exencephaly
- ORPHA:30391 Isolated biliary atresia
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:563612 Isolated exencephaly
- ORPHA:52901 Isolated follicle stimulating hormone deficiency
- ORPHA:408 Isolated glycerol kinase deficiency
- OMIM:173100 Isolated growth hormone deficiency, type II
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- OMIM:618160 Isolated growth hormone deficiency, type V
- ORPHA:166119 Isolated osteopoikilosis
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:457083 Isolated splenogonadal fusion
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
Code pathologie
Nom de la pathologie
- ORPHA:79139 Japanese encephalitis
- ORPHA:100077 Jejunal neuroendocrine tumor
- OMIM:243800 Johanson-Blizzard syndrome
- ORPHA:2315 Johanson-Blizzard syndrome
- OMIM:147770 Johnson neuroectodermal syndrome
- ORPHA:2316 Johnson neuroectodermal syndrome
- ORPHA:475 Joubert syndrome
- OMIM:616784 Joubert syndrome 26
- OMIM:619476 Joubert syndrome 38
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:220493 Joubert syndrome with ocular defect
- ORPHA:2318 Joubert syndrome with oculorenal defect
- ORPHA:220497 Joubert syndrome with renal defect
- ORPHA:2321 Jung syndrome
- ORPHA:411634 Juvenile nephropathic cystinosis
- ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2322 Kabuki syndrome
- OMIM:147920 Kabuki syndrome 1
- ORPHA:478 Kallmann syndrome
- OMIM:308750 Kallmann syndrome with spastic paraplegia
- ORPHA:2326 Kallmann syndrome-heart disease syndrome
- OMIM:530000 Kearns-Sayre syndrome
- ORPHA:480 Kearns-Sayre syndrome
- OMIM:244460 Kenny-caffey syndrome, type 1
- OMIM:127000 Kenny-caffey syndrome, type 2
- ORPHA:494 Keratoderma hereditarium mutilans
- ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome
- ORPHA:261652 Kleefstra syndrome due to a point mutation
- ORPHA:96169 Koolen-De Vries syndrome
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
Code pathologie
Nom de la pathologie
- OMIM:262500 Laron syndrome
- ORPHA:633 Laron syndrome
- ORPHA:100083 Laryngeal neuroendocrine tumor
- ORPHA:556037 Late-onset familial hypoaldosteronism
- ORPHA:199299 Late-onset isolated ACTH deficiency
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:330015 Lead poisoning
- ORPHA:2658 Lenz-Majewski hyperostotic dwarfism
- OMIM:151100 Leopard syndrome 1
- ORPHA:508 Leprechaunism
- ORPHA:548 Leprosy
- OMIM:614962 Leptin deficiency or dysfunction
- OMIM:614963 Leptin receptor deficiency
- OMIM:618681 Lessel-Kubisch syndrome
- OMIM:617022 Lethal congenital contracture syndrome 10
- ORPHA:2968 Leukocyte adhesion deficiency
- OMIM:619310 Leukodystrophy, hypomyelinating, 21
- OMIM:619851 Leukodystrophy, hypomyelinating, 24
- OMIM:607694 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism
- OMIM:614381 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
- OMIM:613724 Leukoencephalopathy with dystonia and motor neuropathy
- OMIM:603896 Leukoencephalopathy with vanishing white matter
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- ORPHA:2387 Leukonychia totalis
- ORPHA:755 Leydig cell hypoplasia
- ORPHA:65285 Lhermitte-Duclos disease
- OMIM:619189 Li-Campeau syndrome
- OMIM:151623 Li-Fraumeni syndrome
- ORPHA:524 Li-Fraumeni syndrome
- OMIM:177200 Liddle syndrome 1
- OMIM:618114 Liddle syndrome 2
- ORPHA:99812 LIG4 syndrome
- OMIM:606593 Lig4 syndrome
- OMIM:246650 Lipase deficiency, combined
- ORPHA:435660 LIPE-related familial partial lipodystrophy
- ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:612526 Lipodystrophy, congenital generalized, type 3
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- OMIM:608600 Lipodystrophy, familial partial, type 1
- OMIM:151660 Lipodystrophy, familial partial, type 2
- OMIM:604367 Lipodystrophy, familial partial, type 3
- OMIM:613877 Lipodystrophy, familial partial, type 4
- OMIM:615238 Lipodystrophy, familial partial, type 5
- OMIM:615980 Lipodystrophy, familial partial, type 6
- OMIM:606721 Lipodystrophy, familial partial, type 7
- OMIM:608709 Lipodystrophy, partial, acquired, susceptibility to
- OMIM:201710 Lipoid congenital adrenal hyperplasia
- ORPHA:542643 Livedoid vasculopathy
- OMIM:619991 Liver disease, severe congenital
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:90289 Localized scleroderma
- ORPHA:69663 Low phospholipid-associated cholelithiasis
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:616843 Lymphedema, hereditary, III
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- ORPHA:144 Lynch syndrome
- ORPHA:470 Lysinuric protein intolerance
- ORPHA:275761 Lysosomal acid lipase deficiency
- OMIM:278000 Lysosomal acid lipase deficiency
Code pathologie
Nom de la pathologie
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- OMIM:248000 Macrocephaly/megalencephaly syndrome, autosomal recessive
- OMIM:248100 Macrosomia adiposa congenita
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:163634 Maffucci syndrome
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- OMIM:619290 Mahvash disease
- OMIM:609628 Majeed syndrome
- ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- ORPHA:529970 Male infertility due to acephalic spermatozoa
- ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation
- ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation
- OMIM:212112 Malouf syndrome
- ORPHA:52417 MALT lymphoma
- OMIM:615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- OMIM:248370 Mandibuloacral dysplasia
- ORPHA:2457 Mandibuloacral dysplasia
- OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy
- ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy
- ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome
- OMIM:248800 Marinesco-Sjogren syndrome
- ORPHA:559 Marinesco-Sjögren syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:619420 Martsolf syndrome 2
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:96179 Maternal uniparental disomy of chromosome 2
- ORPHA:96180 Maternal uniparental disomy of chromosome 4
- ORPHA:96181 Maternal uniparental disomy of chromosome 6
- ORPHA:96183 Maternal uniparental disomy of chromosome 9
- ORPHA:261519 Maternal uniparental disomy of chromosome X
- ORPHA:225 Maternally-inherited diabetes and deafness
- OMIM:606394 Maturity-onset diabetes of the young 6
- OMIM:125850 Maturity-onset diabetes of the young, type 1
- OMIM:613370 Maturity-onset diabetes of the young, type 10
- OMIM:613375 Maturity-onset diabetes of the young, type 11
- OMIM:616329 Maturity-onset diabetes of the young, type 13
- OMIM:616511 Maturity-onset diabetes of the young, type 14
- OMIM:606392 Maturity-onset diabetes of the young, type 4
- OMIM:609812 Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction
- OMIM:125851 Maturity-onset diabetes of the young, type II
- OMIM:600496 Maturity-onset diabetes of the young, type III
- OMIM:612225 Maturity-onset diabetes of the young, type IX
- OMIM:610508 Maturity-onset diabetes of the young, type VII
- ORPHA:562 McCune-Albright syndrome
- OMIM:174800 McCune-Albright syndrome, somatic, mosaic
- OMIM:249000 Meckel syndrome 1
- ORPHA:70588 Meconium aspiration syndrome
- ORPHA:1332 Medullary thyroid carcinoma
- ORPHA:2479 Megalocornea-intellectual disability syndrome
- OMIM:249310 Megalocornea-Mental retardation syndrome
- ORPHA:85282 MEHMO syndrome
- OMIM:300148 Mehmo syndrome
- OMIM:616835 Meier-Gorlin syndrome 6
- ORPHA:550 MELAS
- ORPHA:2495 Meningioma
- OMIM:249599 Mental retardation syndrome, Belgian type
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:300912 Mental retardation, X-linked 98
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300055 Mental retardation, X-linked, syndromic 13
- OMIM:300858 Mental retardation, X-linked, syndromic 17
- OMIM:300967 Mental retardation, X-linked, syndromic 34
- OMIM:300998 Mental retardation, X-linked, syndromic, 35
- OMIM:300354 Mental retardation, X-linked, syndromic, Cabezas type
- OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- OMIM:300123 Mental retardation, X-linked, with isolated growth hormone deficiency
- OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- OMIM:156400 Metaphyseal chondrodysplasia, Jansen type
- ORPHA:31825 Methanol poisoning
- ORPHA:1923 Methimazole embryofetopathy
- ORPHA:79329 MGAT2-CDG
- ORPHA:2510 Micro syndrome
- ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II
- ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III
- OMIM:210720 Microcephalic osteodysplastic primordial dwarfism, type II
- ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:616834 Microcephaly, congenital cataract, and psoriasiform dermatitis
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome
- OMIM:619278 Microcephaly, epilepsy, and diabetes syndrome 2
- OMIM:616033 Microcephaly, short stature, and impaired glucose metabolism 1
- OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2
- ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
- ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type
- ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
- ORPHA:217377 Microduplication Xp11.22p11.23 syndrome
- ORPHA:280200 Microform holoprosencephaly
- ORPHA:50810 Microlissencephaly-micromelia syndrome
- ORPHA:139471 Microphthalmia with brain and digit anomalies
- OMIM:614402 Microphthalmia, syndromic 11
- OMIM:300166 Microphthalmia, syndromic 2
- OMIM:206900 Microphthalmia, syndromic 3
- OMIM:610125 Microphthalmia, syndromic 5
- OMIM:607932 Microphthalmia, syndromic 6
- OMIM:615877 Microphthalmia/coloboma and skeletal dysplasia syndrome
- ORPHA:2552 Microsporidiosis
- ORPHA:100084 Middle ear neuroendocrine tumor
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:601016 Midline malformations, multiple, with limb abnormalities and hypopituitarism
- OMIM:617053 Mirage syndrome
- ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome
- OMIM:618238 Mitochondrial complex I deficiency, nuclear type 16
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia
- ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia
- OMIM:500002 Mitochondrial myopathy with diabetes
- OMIM:540000 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
- 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
- ORPHA:746 Mitochondrial trifunctional protein deficiency
- ORPHA:552 MODY
- OMIM:157900 Moebius syndrome
- ORPHA:570 Moebius syndrome
- ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- ORPHA:79330 MOGS-CDG
- ORPHA:2563 MOMO syndrome
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:99226 Monosomy X
- OMIM:615703 Morbid obesity and spermatogenic failure
- ORPHA:77296 Morgagni-Stewart-Morel syndrome
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1708 Mosaic trisomy 16
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:614114 Mosaic variegated aneuploidy syndrome 2
- ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- OMIM:300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism
- ORPHA:2574 Moynahan syndrome
- ORPHA:79323 MPDU1-CDG
- ORPHA:79319 MPI-CDG
- ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis
- ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia
- ORPHA:575 Muckle-Wells syndrome
- OMIM:252650 Mucolipidosis IV
- OMIM:158330 Mullerian aplasia and hyperandrogenism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum
- OMIM:253320 Multicore myopathy with mental retardation, short stature, and hypogonadotropichypogonadism
- ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome
- OMIM:131100 Multiple endocrine neoplasia 1
- ORPHA:652 Multiple endocrine neoplasia type 1
- ORPHA:653 Multiple endocrine neoplasia type 2
- ORPHA:276152 Multiple endocrine neoplasia type 4
- OMIM:171400 Multiple endocrine neoplasia, type IIA
- OMIM:162300 Multiple endocrine neoplasia, type IIB
- OMIM:610755 Multiple endocrine neoplasia, type IV
- OMIM:158500 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
- ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- OMIM:254000 Muscular dystrophy, congenital, with infantile cataract and hypogonadism
- ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome
- OMIM:254200 Myasthenia gravis
- ORPHA:589 Myasthenia gravis
- OMIM:159400 Myasthenia, limb-girdle, autoimmune
- OMIM:616224 Myasthenic syndrome, congenital, 22
- ORPHA:2588 Myhre syndrome
- ORPHA:247768 Müllerian aplasia and hyperandrogenism
- ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome
- ORPHA:2596 Myopathy and diabetes mellitus
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
- OMIM:600462 Myopathy, lactic acidosis, and sideroblastic anemia 1
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- OMIM:255900 Myxedema
Code pathologie
Nom de la pathologie
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- OMIM:614250 Narcolepsy 7
- ORPHA:542592 Necrobiosis lipoidica
- ORPHA:199244 Nelson syndrome
- ORPHA:44 Neonatal adrenoleukodystrophy
- ORPHA:464370 Neonatal alloimmune neutropenia
- ORPHA:417 Neonatal severe primary hyperparathyroidism
- ORPHA:223 Nephrogenic diabetes insipidus
- OMIM:221995 Nephrogenic diabetes insipidus - intracranial calcification
- ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
- OMIM:300539 Nephrogenic syndrome of inappropriate antidiuresis
- ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome
- OMIM:256300 Nephrotic syndrome, type 1
- OMIM:617575 Nephrotic syndrome, type 14
- OMIM:614008 Nestor-Guillermo progeria syndrome
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:617145 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
- OMIM:615286 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
- OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:619908 Neurodevelopmental disorder with language delay and seizure
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- ORPHA:100079 Neuroendocrine neoplasm of appendix
- ORPHA:100082 Neuroendocrine tumor of anal canal
- ORPHA:100075 Neuroendocrine tumor of stomach
- ORPHA:100080 Neuroendocrine tumor of the colon
- ORPHA:100081 Neuroendocrine tumor of the rectum
- OMIM:162240 Neurofibromatosis-Pheochromocytoma-Duodenal carcinoid syndrome
- OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- ORPHA:137596 Neurotrophic keratopathy
- OMIM:610717 Neutral lipid storage disease with myopathy
- ORPHA:98908 Neutral lipid storage myopathy
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- ORPHA:217253 NMDA receptor encephalitis
- ORPHA:31204 Nocardiosis
- ORPHA:73267 Non-24-hour sleep-wake syndrome
- ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- ORPHA:631 Non-acquired isolated growth hormone deficiency
- ORPHA:90695 Non-acquired panhypopituitarism
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:91349 Non-functioning pituitary adenoma
- ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome
- ORPHA:95706 Non-syndromic posterior hypospadias
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:618624 Noonan syndrome 12
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
- ORPHA:649 Norrie disease
Code pathologie
Nom de la pathologie
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency
- ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency
- ORPHA:71528 Obesity due to prohormone convertase I deficiency
- ORPHA:369873 Obesity due to SIM1 deficiency
- OMIM:609734 Obesity, early-onset, with adrenal insufficiency and red hair
- ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- OMIM:618440 Oculoskeletodental syndrome
- OMIM:300855 Ogden syndrome
- OMIM:603736 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- OMIM:275400 Oliver-Mcfarlane syndrome
- ORPHA:296 Ollier disease
- OMIM:603554 Omenn syndrome
- ORPHA:39041 Omenn syndrome
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- OMIM:619356 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
- OMIM:619009 Oocyte maturation defect 8
- ORPHA:2745 Opitz GBBB syndrome
- ORPHA:2086 Optic pathway glioma
- ORPHA:2753 Orofaciodigital syndrome type 4
- OMIM:223360 Orthostatic hypotension 1, due to DBH deficiency
- OMIM:602475 Ossification of the posterior longitudinal ligament of spine
- OMIM:619795 Osteogenesis imperfecta, type XXII
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:618107 Osteopetrosis, autosomal dominant 3
- ORPHA:2788 Osteoporosis-pseudoglioma syndrome
- OMIM:233300 Ovarian dysgenesis 1
- OMIM:619834 Ovarian dysgenesis 10
- OMIM:300510 Ovarian dysgenesis 2
- OMIM:614324 Ovarian dysgenesis 3
- OMIM:616185 Ovarian dysgenesis 4
- OMIM:618117 Ovarian dysgenesis 7
- OMIM:618187 Ovarian dysgenesis 8
- OMIM:619665 Ovarian dysgenesis 9
- ORPHA:314478 Ovarian fibrothecoma
- ORPHA:64739 Ovarian hyperstimulation syndrome
- ORPHA:206572 Overlap myositis
Code pathologie
Nom de la pathologie
- ORPHA:2796 Pachydermoperiostosis
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:600001 Pancreatic agenesis and congenital heart defects
- OMIM:260370 Pancreatic agenesis, congenital
- ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome
- OMIM:609069 Pancreatic and cerebellar agenesis
- OMIM:600089 Pancreatic beta cell agenesis with neonatal diabetes mellitus
- ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- OMIM:167800 Pancreatitis, hereditary
- ORPHA:95513 Panhypophysitis
- OMIM:312000 Panhypopituitarism, X-linked
- OMIM:168000 Paragangliomas 1
- OMIM:601650 Paragangliomas 2
- OMIM:605373 Paragangliomas 3
- OMIM:115310 Paragangliomas 4
- OMIM:614165 Paragangliomas 5
- OMIM:618464 Paragangliomas 6
- OMIM:618475 Paragangliomas 7
- ORPHA:63455 Paraneoplastic pemphigus
- OMIM:608266 Parathyroid carcinoma
- ORPHA:143 Parathyroid carcinoma
- ORPHA:157835 Paroxysmal hemicrania
- ORPHA:90797 Partial androgen insensitivity syndrome
- ORPHA:251004 Paternal uniparental disomy of chromosome 1
- ORPHA:96191 Paternal uniparental disomy of chromosome 6
- ORPHA:439822 PDE4D haploinsufficiency syndrome
- OMIM:557000 Pearson marrow-pancreas syndrome
- ORPHA:699 Pearson syndrome
- ORPHA:525731 Pediatric-onset Graves disease
- ORPHA:705 Pendred syndrome
- OMIM:274600 Pendred syndrome
- ORPHA:49 Penile agenesis
- ORPHA:11 Pentasomy X
- OMIM:614674 Periodic fever, menstrual cycle-dependent
- ORPHA:563 Peripartum cardiomyopathy
- ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- OMIM:267000 Perlman syndrome
- ORPHA:2849 Perlman syndrome
- ORPHA:226292 Permanent congenital hypothyroidism
- ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:202370 Peroxisome biogenesis disorder 2B
- OMIM:614863 Peroxisome biogenesis disorder 4B
- OMIM:614871 Peroxisome biogenesis disorder 6B
- OMIM:233400 Perrault syndrome 1
- OMIM:614129 Perrault syndrome 3
- OMIM:615300 Perrault syndrome 4
- OMIM:616138 Perrault syndrome 5
- OMIM:261550 Persistent mullerian duct syndrome, types I and II
- ORPHA:709 Peters plus syndrome
- OMIM:175200 Peutz-Jeghers syndrome
- OMIM:606519 PHACE association
- ORPHA:42775 PHACE syndrome
- ORPHA:2874 Phakomatosis pigmentokeratotica
- OMIM:171300 PHEOCHROMOCYTOMA
- OMIM:171420 Pheochromocytoma-Islet cell tumor syndrome
- OMIM:172500 Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebraldysfunction
- OMIM:610489 Pigmented nodular adrenocortical disease, primary, 1
- OMIM:610475 Pigmented nodular adrenocortical disease, primary, 2
- OMIM:614190 Pigmented nodular adrenocortical disease, primary, 3
- OMIM:615830 Pigmented nodular adrenocortical disease, primary, 4
- OMIM:262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
- ORPHA:251623 Pituicytoma
- OMIM:300943 Pituitary adenoma 2, GH-secreting
- OMIM:219090 Pituitary adenoma 4, ACTH-secreting, somatic
- OMIM:617540 Pituitary adenoma 5, multiple types
- OMIM:102200 Pituitary adenoma, growth hormone-secreting, 1
- ORPHA:95613 Pituitary apoplexy
- ORPHA:300385 Pituitary carcinoma
- ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome
- ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts
- ORPHA:91351 Pituitary dermoid and epidermoid cysts
- OMIM:262710 Pituitary dwarfism with large sella turcica
- ORPHA:99725 Pituitary gigantism
- OMIM:613038 Pituitary hormone deficiency, combined, 1
- OMIM:262600 Pituitary hormone deficiency, combined, 2
- OMIM:262700 Pituitary hormone deficiency, combined, 4
- OMIM:613986 Pituitary hormone deficiency, combined, 6
- ORPHA:95496 Pituitary stalk interruption syndrome
- ORPHA:280356 PLIN1-related familial partial lipodystrophy
- ORPHA:79318 PMM2-CDG
- ORPHA:2905 POEMS syndrome
- OMIM:615704 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
- ORPHA:2911 Poland syndrome
- ORPHA:180229 Polyembryoma
- ORPHA:453533 Polyendocrine-polyneuropathy syndrome
- OMIM:616113 Polyendocrine-Polyneuropathy syndrome
- OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy
- ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- ORPHA:101330 Porphyria cutanea tarda
- ORPHA:79473 Porphyria variegata
- ORPHA:95619 Post-traumatic pituitary deficiency
- OMIM:610883 Potocki-Lupski syndrome
- ORPHA:52022 Potocki-Shaffer syndrome
- ORPHA:79083 PPARG-related familial partial lipodystrophy
- ORPHA:97278 PPoma
- OMIM:176270 Prader-Willi syndrome
- ORPHA:739 Prader-Willi syndrome
- ORPHA:177910 Prader-Willi syndrome due to imprinting mutation
- ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion
- ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- ORPHA:177907 Prader-Willi syndrome due to translocation
- ORPHA:398073 Prader-Willi-like syndrome
- OMIM:601759 Preaxial hallucal polydactyly
- OMIM:176400 Precocious puberty, central
- OMIM:615346 Precocious puberty, central, 2
- OMIM:176410 Precocious puberty, male
- ORPHA:275555 Preeclampsia
- OMIM:601811 Premature aging syndrome, Okamoto type
- OMIM:601812 Premature aging syndrome, Penttinen type
- OMIM:612885 Premature ovarian failure 10
- OMIM:616946 Premature ovarian failure 11
- OMIM:617442 Premature ovarian failure 13
- OMIM:618014 Premature ovarian failure 14
- OMIM:618723 Premature ovarian failure 16
- OMIM:619146 Premature ovarian failure 17
- OMIM:619203 Premature ovarian failure 18
- OMIM:619938 Premature ovarian failure 20
- OMIM:300511 Premature ovarian failure 2A
- OMIM:300604 Premature ovarian failure 2B
- OMIM:612310 Premature ovarian failure 6
- OMIM:612964 Premature ovarian failure 7
- OMIM:615723 Premature ovarian failure 8
- OMIM:615724 Premature ovarian failure 9
- OMIM:615474 Primary aldosteronism, seizures, and neurologic abnormalities
- ORPHA:186 Primary biliary cholangitis
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- ORPHA:90970 Primary lipodystrophy
- ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:289390 Primary Sjögren syndrome
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- ORPHA:231580 Primary unilateral adrenal hyperplasia
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- OMIM:259050 Primrose syndrome
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- OMIM:157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- OMIM:609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- ORPHA:2762 Progressive osseous heteroplasia
- OMIM:264120 Prolactin deficiency with obesity and enlarged testes
- OMIM:264110 Prolactin deficiency, isolated
- ORPHA:2965 Prolactinoma
- OMIM:600955 Proprotein convertase 1/3 deficiency
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- ORPHA:744 Proteus syndrome
- ORPHA:2969 Proteus-like syndrome
- ORPHA:401768 Proximal myopathy with extrapyramidal signs
- OMIM:264300 Pseudohermaphroditism, male, with gynecomastia
- OMIM:177735 Pseudohypoaldosteronism, type I, autosomal dominant
- OMIM:264350 Pseudohypoaldosteronism, type I, autosomal recessive
- OMIM:145260 Pseudohypoaldosteronism, type II
- OMIM:614491 Pseudohypoaldosteronism, type IIB
- OMIM:614492 Pseudohypoaldosteronism, type IIC
- OMIM:614495 Pseudohypoaldosteronism, type IID
- OMIM:614496 Pseudohypoaldosteronism, type IIE
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:94090 Pseudohypoparathyroidism type 2
- ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy
- OMIM:103580 Pseudohypoparathyroidism, type IA
- OMIM:603233 Pseudohypoparathyroidism, type IB
- OMIM:612462 Pseudohypoparathyroidism, type IC
- OMIM:203330 Pseudohypoparathyroidism, type II
- ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type
- OMIM:264475 Pseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies
- ORPHA:79445 Pseudopseudohypoparathyroidism
- OMIM:612463 PSEUDOPSEUDOHYPOPARATHYROIDISM
- OMIM:264480 Pseudotrisomy 13 syndrome
- OMIM:264600 Pseudovaginal perineoscrotal hypospadias
- ORPHA:306498 PTEN hamartoma tumor syndrome
- ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency
- ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:441 Pure autonomic failure
- ORPHA:763 Pycnodysostosis
- OMIM:265850 PYGMY
- ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Code pathologie
Nom de la pathologie
- ORPHA:769 Rabson-Mendenhall syndrome
- OMIM:619312 Radio-Tartaglia syndrome
- OMIM:619013 Rajab interstitial lung disease with brain calcifications 2
- ORPHA:3019 Ramon syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- ORPHA:94125 Recessive mitochondrial ataxia syndrome
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- OMIM:312300 Reifenstein syndrome
- OMIM:137920 Renal cysts and diabetes syndrome
- OMIM:560000 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia
- ORPHA:3242 Renpenning syndrome
- ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome
- ORPHA:1662 Restrictive dermopathy
- OMIM:275210 Restrictive dermopathy 1
- OMIM:267500 Reticular dysgenesia
- ORPHA:33355 Reticular dysgenesis
- OMIM:617175 Retinal dystrophy with or without extraocular anomalies
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- ORPHA:791 Retinitis pigmentosa
- OMIM:268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
- ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- OMIM:268040 Retinohepatoendocrinologic syndrome
- ORPHA:778 Rett syndrome
- OMIM:180295 Rhabdomyosarcoma, embryonal, 2
- ORPHA:140976 RHYNS syndrome
- OMIM:602152 Rhyns syndrome
- ORPHA:97229 Riboflavin transporter deficiency
- ORPHA:1399 Richards-Rundle syndrome
- OMIM:277440 Rickets, vitamin D-resistant, type IIA
- ORPHA:217335 RIN2 syndrome
- ORPHA:1439 Ring chromosome 12 syndrome
- ORPHA:96176 Ring chromosome 13 syndrome
- ORPHA:1445 Ring chromosome 21 syndrome
- ORPHA:1449 Ring chromosome 7 syndrome
- ORPHA:261529 Ring chromosome Y syndrome
- OMIM:220210 Ritscher-Schinzel syndrome 1
- ORPHA:97360 Robinow syndrome
- ORPHA:353298 Roifman syndrome
- OMIM:268400 Rothmund-Thomson syndrome
- ORPHA:221008 Rothmund-Thomson syndrome type 1
- OMIM:618625 Rothmund-thomson syndrome, type 1
- OMIM:180849 Rubinstein-Taybi syndrome 1
- ORPHA:3121 Ruvalcaba syndrome
- OMIM:180870 Ruvalcaba syndrome
Code pathologie
Nom de la pathologie
- ORPHA:300493 Sagliker syndrome
- ORPHA:2323 Sanjad-Sakati syndrome
- ORPHA:797 Sarcoidosis
- ORPHA:3130 Satoyoshi syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:181270 Scalp-Ear-Nipple syndrome
- ORPHA:2036 Scalp-ear-nipple syndrome
- ORPHA:449280 Scedosporiosis
- OMIM:615547 Schaaf-Yang syndrome
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:163200 Schimmelpenning-Feuerstein-Mims syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:167635 Scleromyxedema
- OMIM:617253 Seckel syndrome 10
- OMIM:614851 Seckel syndrome 7
- ORPHA:140286 Secondary hypoparathyroidism due to impaired parathormon secretion
- ORPHA:90363 Secondary intestinal lymphangiectasia
- ORPHA:95427 Secondary short bowel syndrome
- ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- OMIM:612780 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- ORPHA:331235 Selective IgM deficiency
- ORPHA:220386 Semilobar holoprosencephaly
- OMIM:616629 Senior-Loken syndrome 9
- ORPHA:3157 Septo-optic dysplasia spectrum
- OMIM:182230 Septooptic dysplasia
- ORPHA:280195 Septopreoptic holoprosencephaly
- ORPHA:139466 SERKAL syndrome
- ORPHA:140896 Severe acute respiratory syndrome
- 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:300400 Severe combined immunodeficiency, X-linked
- ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts
- ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy
- ORPHA:91355 Sheehan syndrome
- ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome
- OMIM:618702 Short stature and microcephaly with genital anomalies
- ORPHA:314811 Short stature due to GHSR deficiency
- ORPHA:314802 Short stature due to partial GHR deficiency
- ORPHA:140941 Short stature due to primary acid-labile subunit deficiency
- OMIM:617157 Short stature, brachydactyly, intellectual developmental disability, and seizures
- OMIM:619489 Short stature, Dauber-Argente type
- OMIM:617763 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:619234 Short stature, oligodontia, dysmorphic facies, and motor delay
- OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
- ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome
- ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome
- ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency
- ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome
- OMIM:269880 Short syndrome
- ORPHA:3163 SHORT syndrome
- OMIM:619479 Short-rib thoracic dysplasia 21 without polydactyly
- ORPHA:811 Shwachman-Diamond syndrome
- OMIM:617159 Sifrim-Hitz-Weiss syndrome
- ORPHA:813 Silver-Russell syndrome
- OMIM:180860 Silver-Russell syndrome 1
- ORPHA:397590 Silver-Russell syndrome due to a point mutation
- ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- ORPHA:398079 SIM1-related Prader-Willi-like syndrome
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- ORPHA:488437 SIX2-related frontonasal dysplasia
- ORPHA:356961 SLC35A2-CDG
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:182290 Smith-Magenis syndrome
- ORPHA:449285 Snakebite envenomation
- ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma
- OMIM:147250 Solitary median maxillary central incisor
- ORPHA:314769 Somatomammotropinoma
- ORPHA:97283 Somatostatinoma
- ORPHA:821 Sotos syndrome
- OMIM:312910 Spastic paraparesis and deafness
- ORPHA:2815 Spastic paraparesis-deafness syndrome
- OMIM:609195 Spastic paraplegia 26, autosomal recessive
- OMIM:615683 Spastic paraplegia 64, autosomal recessive
- ORPHA:2826 Spastic paraplegia-precocious puberty syndrome
- ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome
- OMIM:615841 Spermatogenic failure 13
- OMIM:615842 Spermatogenic failure 14
- OMIM:616950 Spermatogenic failure 15
- OMIM:108420 Spermatogenic failure 2
- OMIM:618086 Spermatogenic failure 28
- OMIM:619044 Spermatogenic failure 44
- OMIM:619949 Spermatogenic failure 75
- OMIM:620103 Spermatogenic failure 77
- OMIM:301077 Spermatogenic failure, X-linked, 4
- OMIM:615768 Spinocerebellar ataxia, autosomal recessive 16
- OMIM:271500 Splenoportal vascular anomalies
- ORPHA:93357 SPONASTRIME dysplasia
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- OMIM:271510 Spondyloepimetaphyseal dysplasia, Sponastrime type
- ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type
- ORPHA:1665 Sporadic fetal brain disruption sequence
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- ORPHA:324737 SRD5A3-CDG
- OMIM:617516 Stankiewicz-Isidor syndrome
- ORPHA:36238 Staphylococcal necrotizing pneumonia
- ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- ORPHA:3198 Stiff person spectrum disorder
- ORPHA:2833 Stiff skin syndrome
- OMIM:184850 Stiff-Person syndrome
- ORPHA:3199 Stimmler syndrome
- ORPHA:3206 Stüve-Wiedemann syndrome
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- ORPHA:48377 Subcorneal pustular dermatosis
- ORPHA:1570 Symbrachydactyly of hands and feet
- ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:84064 Syndromic diarrhea
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:281090 Syndromic recessive X-linked ichthyosis
- ORPHA:85274 Syndromic X-linked intellectual disability 7
Code pathologie
Nom de la pathologie
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- ORPHA:845 Tay-Sachs disease
- ORPHA:488632 TBCK-related intellectual disability syndrome
- ORPHA:254516 Temple syndrome
- OMIM:616222 Temple syndrome
- ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
- ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation
- ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion
- OMIM:616260 Tenorio syndrome
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- OMIM:273150 Testes, rudimentary
- ORPHA:325124 Testicular agenesis
- OMIM:615542 Testicular anomalies with or without congenital heart disease
- OMIM:273395 Tetraamelia, autosomal recessive
- OMIM:273400 Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities
- ORPHA:3305 Tetraploidy
- ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome
- OMIM:249270 Thiamine-Responsive megaloblastic anemia syndrome
- OMIM:274190 Thumb agenesis, short stature, and immunodeficiency
- ORPHA:83471 Thymic aplasia
- ORPHA:99868 Thymic carcinoma
- ORPHA:97289 Thymic neuroendocrine tumor
- ORPHA:100100 Thymic tumor
- OMIM:274265 Thymic-Renal-Anal-Lung dysplasia
- ORPHA:99867 Thymoma
- OMIM:274230 Thymoma, familial
- ORPHA:3327 Thyrocerebrorenal syndrome
- OMIM:274240 Thyrocerebroretinal syndrome
- OMIM:188550 Thyroid cancer, nonmedullary, 1
- OMIM:188470 Thyroid cancer, nonmedullary, 2
- OMIM:606240 Thyroid cancer, nonmedullary, 3
- OMIM:616534 Thyroid cancer, nonmedullary, 4
- OMIM:616535 Thyroid cancer, nonmedullary, 5
- OMIM:155240 Thyroid carcinoma, familial medullary
- OMIM:607200 Thyroid dyshormonogenesis 6
- ORPHA:95712 Thyroid ectopia
- ORPHA:95719 Thyroid hemiagenesis
- OMIM:609698 Thyroid hormone metabolism, abnormal
- OMIM:619855 Thyroid hormone metabolism, abnormal, 2
- OMIM:188560 Thyroid hormone plasma membrane transport defect
- OMIM:188570 Thyroid hormone resistance, generalized, autosomal dominant
- OMIM:274300 Thyroid hormone resistance, generalized, autosomal recessive
- OMIM:145650 Thyroid hormone resistance, selective pituitary
- OMIM:274400 Thyroid hormonogenesis, genetic defect in, 1
- OMIM:274500 Thyroid hormonogenesis, genetic defect in, 2A
- OMIM:274700 Thyroid hormonogenesis, genetic defect in, 3
- OMIM:274800 Thyroid hormonogenesis, genetic defect in, 4
- OMIM:274900 Thyroid hormonogenesis, genetic defect in, 5
- ORPHA:95720 Thyroid hypoplasia
- ORPHA:97285 Thyroid lymphoma
- ORPHA:79102 Thyrotoxic periodic paralysis
- OMIM:188580 Thyrotoxic periodic paralysis, susceptibility to, 1
- OMIM:613239 Thyrotoxic periodic paralysis, susceptibility to, 2
- OMIM:275120 Thyrotropin-Releasing hormone deficiency
- OMIM:601005 Timothy syndrome
- OMIM:618971 Tolchin-Le Caignec syndrome
- ORPHA:857 Townes-Brocks syndrome
- OMIM:107480 Townes-Brocks syndrome 1
- ORPHA:99886 Transient neonatal diabetes mellitus
- ORPHA:488618 Transketolase deficiency
- ORPHA:861 Treacher-Collins syndrome
- ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:300953 Trichothiodystrophy 5, nonphotosensitive
- ORPHA:869 Triple A syndrome
- OMIM:608189 Tropical calcific pancreatitis
- ORPHA:103918 Tropical pancreatitis
- ORPHA:3384 Truncus arteriosus
- ORPHA:91347 TSH-secreting pituitary adenoma
- ORPHA:805 Tuberous sclerosis complex
- OMIM:191100 Tuberous sclerosis-1
- OMIM:613254 Tuberous sclerosis-2
- OMIM:211900 Tumoral calcinosis, hyperphosphatemic, familial, 1
- OMIM:617994 Tumoral calcinosis, hyperphosphatemic, familial, 3
- ORPHA:99818 Turcot syndrome with polyposis
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:276700 Tyrosinemia, type I
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- OMIM:301030 Van Esch-O'Driscoll syndrome
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192430 Velocardiofacial syndrome
- ORPHA:505395 Ventilator-induced diaphragmatic dysfunction
- ORPHA:3429 Verloove Vanhorick-Brubakk syndrome
- OMIM:618223 Vertebral anomalies and variable endocrine and T-cell dysfunction
- OMIM:242840 Vici syndrome
- ORPHA:97282 VIPoma
- OMIM:619472 VISS syndrome
- OMIM:264700 Vitamin D hydroxylation-deficient rickets, type 1A
- OMIM:600785 Vitamin D-dependent rickets type 2B with normal vitamin D receptor
- OMIM:619073 Vitamin d-dependent rickets, type 3
- ORPHA:892 Von Hippel-Lindau disease
- OMIM:193300 von Hippel-Lindau syndrome
Code pathologie
Nom de la pathologie
- OMIM:613266 Waardenburg syndrome, type 4C
- OMIM:615926 Webb-Dattani syndrome
- ORPHA:3344 Weismann-Netter syndrome
- ORPHA:902 Werner syndrome
- OMIM:277700 Werner syndrome
- ORPHA:3452 Whipple disease
- OMIM:619426 White-Kernohan syndrome
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:319182 Wiedemann-Steiner syndrome
- ORPHA:904 Williams syndrome
- OMIM:609757 Williams-Beuren region duplication syndrome
- OMIM:194050 Williams-Beuren syndrome
- OMIM:277900 Wilson disease
- ORPHA:3459 Wilson-Turner syndrome
- ORPHA:906 Wiskott-Aldrich syndrome
- OMIM:613406 Witteveen-Kolk syndrome
- ORPHA:1667 Wolcott-Rallison syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:3463 Wolfram syndrome
- OMIM:222300 Wolfram syndrome 1
- OMIM:604928 Wolfram syndrome 2
- OMIM:598500 Wolfram syndrome, mitochondrial form
- ORPHA:411590 Wolfram-like syndrome
- OMIM:614296 Wolfram-Like syndrome, autosomal dominant
- ORPHA:75233 Wolman disease
- ORPHA:3464 Woodhouse-Sakati syndrome
- OMIM:241080 Woodhouse-Sakati syndrome
- ORPHA:79414 Woolly hair nevus
Code pathologie
Nom de la pathologie
- ORPHA:300373 X-linked acrogigantism
- ORPHA:43 X-linked adrenoleukodystrophy
- ORPHA:139396 X-linked cerebral adrenoleukodystrophy
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:181 X-linked hypohidrotic ectodermal dysplasia
- ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency
- ORPHA:85293 X-linked intellectual disability, Cabezas type
- ORPHA:163971 X-linked intellectual disability, Cilliers type
- ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type
- ORPHA:85323 X-linked intellectual disability, Seemanova type
- ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type
- ORPHA:163976 X-linked intellectual disability, Van Esch type
- ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome
- ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome
- ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome
- ORPHA:158003 Xanthoma disseminatum
- ORPHA:910 Xeroderma pigmentosum
- OMIM:610651 Xeroderma pigmentosum, complementation group B
- ORPHA:261476 Xp21 deletion syndrome
- ORPHA:1643 Xp22.3 microdeletion syndrome
- ORPHA:314389 Xq12-q13.3 duplication syndrome
- ORPHA:1435 Xq21 microdeletion syndrome
- ORPHA:261483 Xq27.3q28 duplication syndrome
Code pathologie
Nom de la pathologie
Gènes associés :
- #
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
Nom du gène
- AAAS
- ABCA4
- ABCB11
- ABCB4
- ABCC8
- ABCD1
- ACP5
- ACTG2
- ADA
- ADA2
- ADAMTSL1
- ADAR
- ADAT3
- ADCY3
- ADCY5
- ADGRG1
- ADH5
- ADNP
- ADORA2A
- AEBP1
- AFF4
- AGBL5
- AGPAT2
- AHI1
- AHR
- AHSG
- AIP
- AIRE
- AK2
- AKT1
- AKT2
- ALB
- ALDOA
- ALG1
- ALG12
- ALG14
- ALG2
- ALG3
- ALG5
- ALG6
- ALG8
- ALG9
- ALMS1
- ALX3
- ALX4
- AMACR
- AMH
- AMHR2
- ANAPC1
- ANK1
- ANOS1
- ANTXR1
- ANTXR2
- AP2S1
- APC
- APC2
- APOA5
- APOE
- APPL1
- AQP2
- ARHGEF18
- ARID1A
- ARID1B
- ARID2
- ARL13B
- ARL2BP
- ARL3
- ARL6
- ARL6IP6
- ARMC5
- ARMC9
- ARNT2
- ARSL
- ARVCF
- ASH1L
- ASXL3
- ATAD3A
- ATM
- ATP11A
- ATP6V1B2
- ATP7A
- ATP7B
- ATP8B1
- ATRX
- AVP
- AVPR2
- AXL
Nom du gène
Nom du gène
- C14orf39
- C1QBP
- C1S
- CA2
- CA4
- CACNA1C
- CACNA1D
- CACNA1H
- CACNA1S
- CAMKMT
- CARS1
- CASK
- CASP10
- CASR
- CASZ1
- CAT
- CAV1
- CAVIN1
- CBL
- CBX2
- CBY1
- CC2D2A
- CCBE1
- CCDC134
- CCDC141
- CCDC22
- CCDC28B
- CCDC34
- CCND1
- CDC42
- CDC42BPB
- CDC73
- CDH23
- CDHR1
- CDKL5
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2A
- CDKN2B
- CDKN2C
- CDON
- CEL
- CELA2A
- CENPT
- CEP104
- CEP112
- CEP120
- CEP19
- CEP290
- CEP41
- CEP57
- CERKL
- CFAP418
- CFTR
- CHD4
- CHD7
- CHEK2
- CHRNG
- CIDEC
- CILK1
- CISD2
- CLCN2
- CLCNKA
- CLCNKB
- CLDN10
- CLDN16
- CLDN19
- CLIP2
- CLN3
- CLPB
- CLPP
- CLRN1
- CNGA1
- CNGB1
- CNOT1
- CNTNAP2
- COG2
- COL2A1
- COL4A5
- COL7A1
- COMT
- COQ2
- CORIN
- CP
- CPA1
- CPE
- CPLANE1
- CPLX1
- CRB1
- CREBBP
- CRX
- CSPP1
- CTBP1
- CTC1
- CTDP1
- CTLA4
- CTNNB1
- CTNS
- CTRC
- CTSK
- CUL3
- CUL4B
- CWC27
- CYB5A
- CYP11A1
- CYP11B1
- CYP11B2
- CYP17A1
- CYP19A1
- CYP27A1
- CYP27B1
- CYP2R1
- CYP3A4
Nom du gène
- DACT1
- DAXX
- DBH
- DCAF17
- DCC
- DCHS1
- DCLRE1C
- DDB1
- DDB2
- DDOST
- DDX3X
- DEAF1
- DGCR2
- DGCR6
- DGCR8
- DHCR7
- DHDDS
- DHH
- DHX37
- DHX38
- DIAPH2
- DICER1
- DIO1
- DIS3L2
- DISP1
- DKC1
- DLK1
- DLL1
- DLST
- DMRT1
- DMRT3
- DMXL2
- DNAH1
- DNAJB11
- DNAJC19
- DNAJC21
- DNAJC3
- DNAJC30
- DNAL4
- DNASE2
- DNM1L
- DNMT1
- DNMT3A
- DPF2
- DUOX2
- DUOXA2
- DUSP6
- DUT
- DYRK1A
- DYRK1B
Nom du gène
Nom du gène
- FAH
- FAM111A
- FAM111B
- FAM161A
- FAM20A
- FAN1
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FARSA
- FAS
- FASLG
- FAT4
- FBN1
- FCGR3B
- FDX2
- FEZF1
- FGD1
- FGF13
- FGF17
- FGF8
- FGFR1
- FGFRL1
- FH
- FIGLA
- FKBP6
- FLCN
- FLI1
- FLII
- FLNB
- FLRT3
- FLT1
- FN1
- FOCAD
- FOS
- FOXA2
- FOXC1
- FOXC2
- FOXD3
- FOXE1
- FOXH1
- FOXI1
- FOXL2
- FOXP1
- FOXP3
- FOXRED1
- FRAS1
- FREM1
- FSCN2
- FSHB
- FSHR
- FUCA1
- FUT8
- FUZ
Nom du gène
- G6PC1
- G6PC3
- GABRA3
- GABRD
- GALK1
- GALNT2
- GALNT3
- GALT
- GAN
- GANAB
- GAS1
- GATA1
- GATA3
- GATA4
- GATA6
- GATB
- GATC
- GBA1
- GCGR
- GCH1
- GCK
- GCM2
- GCNA
- GDF9
- GDNF
- GH1
- GHR
- GHRHR
- GHSR
- GJA1
- GJB2
- GJB3
- GJB4
- GK
- GLA
- GLI2
- GLI3
- GLIS3
- GLRX5
- GLUD1
- GMNN
- GMPPA
- GNA11
- GNAO1
- GNAS
- GNAS-AS1
- GNB1
- GNB2
- GNE
- GNRH1
- GNRHR
- GP1BB
- GPC3
- GPC4
- GPD2
- GPR101
- GPR161
- GPR35
- GRB10
- GREM1
- GRIA1
- GRIN1
- GRIN2B
- GRM7
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GUCA1B
- GYG1
Nom du gène
Nom du gène
- IARS1
- IARS2
- IDH1
- IDH2
- IDH3A
- IDH3B
- IER3IP1
- IFIH1
- IFNG
- IFT140
- IFT172
- IFT27
- IFT74
- IFT88
- IGF1
- IGF1R
- IGF2
- IGF2BP2
- IGFALS
- IGH
- IGHG2
- IGKC
- IGSF1
- IL12A
- IL12RB1
- IL17RD
- IL18BP
- IL2RA
- IL2RG
- IL6
- IL6ST
- IL7R
- IMPDH1
- IMPDH2
- IMPG1
- IMPG2
- INPP5E
- INPP5K
- INS
- INSR
- IPO8
- IPW
- IQSEC2
- IRF4
- IRF5
- IRS1
- IRS2
- IRS4
- IRX5
- ITCH
- ITGB6
- ITPR3
- IYD
Nom du gène
Nom du gène
Nom du gène
- MAB21L2
- MAD2L2
- MADD
- MAFA
- MAGED2
- MAGEL2
- MAK
- MALT1
- MAMLD1
- MAP2K1
- MAP2K2
- MAP3K1
- MAP3K7
- MAPK8IP1
- MARS1
- MARS2
- MAX
- MC2R
- MC4R
- MCM10
- MCM4
- MCM8
- MCM9
- MCOLN1
- MCTP2
- MDH2
- MDM2
- MDM4
- MECP2
- MED12
- MEF2A
- MEG3
- MEIOB
- MEN1
- MERTK
- METTL27
- MGAT2
- MGME1
- MIA3
- MICU1
- MID1
- MINPP1
- MKKS
- MKRN3
- MKS1
- MLH1
- MLH3
- MLXIPL
- MMEL1
- MMP1
- MMP14
- MMP2
- MMP23B
- MOG
- MOGS
- MPDU1
- MPI
- MRAP
- MRAS
- MRE11
- MRPS22
- MRPS25
- MRPS7
- MSH2
- MSH3
- MSH4
- MSH5
- MSH6
- MSL3
- MSMO1
- MST1
- MSTO1
- MT-ATP6
- MT-ATP8
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND5
- MT-ND6
- MT-TC
- MT-TE
- MT-TF
- MT-TH
- MT-TK
- MT-TL1
- MT-TL2
- MT-TN
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TV
- MT-TW
- MTHFR
- MTNR1B
- MTTP
- MYH3
Nom du gène
- NAA10
- NAB2
- NANOS1
- NDE1
- NDN
- NDNF
- NDP
- NDUFA1
- NDUFA11
- NDUFA6
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB9
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NECTIN1
- NEK2
- NEK9
- NEUROD1
- NEUROD2
- NEUROG3
- NEXMIF
- NF2
- NFIX
- NFKB2
- NFS1
- NHLH2
- NHP2
- NIN
- NIPBL
- NKX2-1
- NKX2-5
- NKX2-6
- NLGN3
- NLGN4X
- NLRP1
- NLRP3
- NNT
- NODAL
- NONO
- NOP10
- NOTCH3
- NPAP1
- NPHP1
- NPHS1
- NPM1
- NR0B1
- NR1H4
- NR2E3
- NR2F2
- NR3C1
- NR3C2
- NR4A2
- NR5A1
- NRAS
- NRL
- NRTN
- NSD1
- NSD2
- NSDHL
- NSMCE2
- NSMCE3
- NSMF
- NSUN2
- NTN1
- NUBPL
- NUP107
Nom du gène
- P4HA2
- PALB2
- PALLD
- PAPPA2
- PAPSS2
- PARN
- PAX4
- PAX8
- PCARE
- PCBD1
- PCNT
- PCSK1
- PDE11A
- PDE4D
- PDE6A
- PDE6B
- PDE6G
- PDE8B
- PDGFB
- PDGFRB
- PDPN
- PDX1
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PGM1
- PHEX
- PHF21A
- PHF6
- PHGDH
- PHKA2
- PHKG2
- PI4KA
- PIBF1
- PIEZO1
- PIGF
- PIGP
- PIGQ
- PIGT
- PIK3C2A
- PIK3CA
- PIK3R1
- PITX2
- PKD1
- PKD2
- PLAA
- PLAG1
- PLAGL1
- PLCD1
- PLCG2
- PLCH1
- PLEKHM1
- PLIN1
- PLVAP
- PLXND1
- PMFBP1
- PMM2
- PMS1
- PMS2
- PNKP
- PNLDC1
- PNPLA2
- PNPLA6
- POC1A
- POF1B
- POLA1
- POLD1
- POLE
- POLG
- POLG2
- POLR1B
- POLR1C
- POLR1D
- POLR3A
- POLR3B
- POLR3GL
- POLR3H
- POLR3K
- POMC
- POMGNT1
- POR
- POU1F1
- POU2AF1
- POU3F4
- PPARG
- PPM1B
- PPOX
- PPP1R15B
- PPP1R3A
- PPP2R3C
- PRCD
- PRDM13
- PRDM16
- PREPL
- PRIM1
- PRKACA
- PRKAR1A
- PRKCD
- PRKCZ
- PRLR
- PRMT7
- PROK2
- PROKR2
- PROM1
- PROP1
- PRORP
- PRPF3
- PRPF31
- PRPF4
- PRPF6
- PRPF8
- PRPH2
- PRPS1
- PRSS1
- PRSS2
- PRTN3
- PSMB8
- PSMC3IP
- PSMD12
- PSTPIP1
- PTCH1
- PTCH2
- PTDSS1
- PTEN
- PTF1A
- PTH
- PTH1R
- PTPN1
- PTPN11
- PTPN22
- PTRH2
- PUF60
- PUS1
- PWAR1
- PWRN1
- PYGL
Nom du gène
Nom du gène
- RAB18
- RAB23
- RAB3GAP1
- RAB3GAP2
- RABL3
- RAC1
- RAD21
- RAD51
- RAD51C
- RAF1
- RAG1
- RAG2
- RAI1
- RASA2
- RASGRP1
- RBM28
- RBP3
- RCBTB1
- RDH12
- RECQL4
- REEP6
- RERE
- RET
- RETN
- REV3L
- RFC2
- RFWD3
- RGR
- RHO
- RIN2
- RIT1
- RLBP1
- RMRP
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF113A
- RNF125
- RNF216
- RNPC3
- RNU4ATAC
- RNU7-1
- ROBO1
- ROM1
- RORC
- RP1
- RP1L1
- RP2
- RP9
- RPE65
- RPGR
- RPGRIP1L
- RPL10
- RPS20
- RRAS
- RRAS2
- RREB1
- RRM2B
- RTEL1
- RTL1
Nom du gène
- SAA1
- SAG
- SALL1
- SAMD9
- SAMHD1
- SARS2
- SASH1
- SASH3
- SBDS
- SCAPER
- SCARB2
- SCN1B
- SCN2A
- SCN4A
- SCNN1A
- SCNN1B
- SCNN1G
- SCP2
- SDCCAG8
- SDHA
- SDHAF2
- SDHB
- SDHC
- SDHD
- SEC23B
- SEC24C
- SECISBP2
- SEMA3A
- SEMA3C
- SEMA3D
- SEMA3E
- SEMA4A
- SEMA4D
- SERPINA6
- SETBP1
- SETD2
- SGPL1
- SH2B1
- SHH
- SHOC1
- SHROOM4
- SIK1
- SIK3
- SIL1
- SIM1
- SIN3A
- SIX1
- SIX2
- SIX3
- SIX6
- SKI
- SKIC2
- SKIC3
- SLC12A1
- SLC12A3
- SLC16A1
- SLC16A2
- SLC19A2
- SLC25A11
- SLC25A13
- SLC25A22
- SLC25A4
- SLC26A3
- SLC26A4
- SLC29A3
- SLC2A2
- SLC30A8
- SLC34A1
- SLC34A3
- SLC35A2
- SLC37A4
- SLC39A4
- SLC3A1
- SLC40A1
- SLC5A2
- SLC5A5
- SLC6A17
- SLC7A14
- SLC7A7
- SLCO2A1
- SLX4
- SMAD4
- SMARCA4
- SMARCAL1
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCE1
- SMC1A
- SMC3
- SMCHD1
- SMO
- SMPD1
- SMPD4
- SNAP29
- SNORD115-1
- SNORD116-1
- SNRNP200
- SNRPN
- SOCS1
- SOHLH1
- SOS1
- SOS2
- SOST
- SOX10
- SOX11
- SOX2
- SOX3
- SOX4
- SOX6
- SOX9
- SP110
- SPATA7
- SPEN
- SPI1
- SPIB
- SPIDR
- SPINK1
- SPOP
- SPRED2
- SPRY4
- SPTBN1
- SQSTM1
- SRA1
- SRCAP
- SRD5A2
- SRD5A3
- SREBF1
- SRGAP1
- SRP54
- SRPX2
- SRY
- STAG2
- STAG3
- STAR
- STAT1
- STAT3
- STAT5B
- STAT6
- STEAP3
- STIL
- STK11
- STOX1
- STRADA
- STS
- STUB1
- STX16
- STX1A
- SUFU
- SUGCT
- SUN5
- SVBP
- SYCE1
- SYCP3
Nom du gène
- TAC3
- TACR3
- TAF13
- TAF4B
- TANGO2
- TBC1D20
- TBC1D24
- TBC1D7
- TBCE
- TBCK
- TBL1X
- TBL2
- TBX1
- TBX19
- TBX2
- TBX3
- TCF12
- TCF4
- TCF7L2
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TDGF1
- TDRD9
- TERC
- TERT
- TEX11
- TEX14
- TEX15
- TF
- TFAP2A
- TFE3
- TFR2
- TG
- TGFB1
- TGFBR2
- TGIF1
- THOC2
- THRA
- THRB
- TIAM1
- TIMMDC1
- TINF2
- TKT
- TLR8
- TMCO1
- TMEM126B
- TMEM127
- TMEM138
- TMEM216
- TMEM218
- TMEM231
- TMEM237
- TMEM270
- TMEM67
- TNFSF15
- TNPO3
- TNRC6B
- TNXB
- TOGARAM1
- TOM1
- TONSL
- TOPORS
- TP53
- TP63
- TPO
- TRAF3IP1
- TRAF7
- TRAPPC11
- TRAPPC9
- TREX1
- TRH
- TRHR
- TRIM32
- TRIM8
- TRIP13
- TRIP4
- TRMT10A
- TRPV6
- TSC1
- TSC2
- TSHB
- TSHR
- TTC26
- TTC7A
- TTC8
- TTPA
- TTR
- TUB
- TULP1
- TWNK
- TXNRD2
- 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
