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Abnormality of the genitourinary system
Code Aire thérapeutique (HPO) :
HP:0000119Panel «Abnormality of the genitourinary system» :
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Code pathologie
Nom de la pathologie
- ORPHA:276422 10q22.3q23.3 microduplication syndrome
- ORPHA:94063 12q14 microdeletion syndrome
- ORPHA:412035 13q12.3 microdeletion syndrome
- ORPHA:264200 14q22q23 microdeletion syndrome
- ORPHA:401935 14q24.1q24.3 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:94065 15q24 microdeletion syndrome
- ORPHA:261204 16p11.2p12.2 microduplication syndrome
- ORPHA:485405 16p12.1p12.3 triplication syndrome
- ORPHA:261236 16p13.11 microdeletion syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:261250 16q24.3 microdeletion syndrome
- ORPHA:217385 17p13.3 microduplication syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:139474 17q11.2 microduplication syndrome
- ORPHA:261265 17q12 microdeletion syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:261279 17q23.1q23.2 microdeletion syndrome
- ORPHA:529962 17q24.2 microdeletion syndrome
- ORPHA:254346 19p13.12 microdeletion syndrome
- ORPHA:447980 19p13.3 microduplication syndrome
- ORPHA:217346 19q13.11 microdeletion syndrome
- ORPHA:401986 1p31p32 microdeletion syndrome
- ORPHA:1606 1p36 deletion syndrome
- ORPHA:250989 1q21.1 microdeletion syndrome
- ORPHA:250994 1q21.1 microduplication syndrome
- ORPHA:250999 1q41q42 microdeletion syndrome
- ORPHA:238769 1q44 microdeletion syndrome
- ORPHA:363659 20q11.2 microduplication syndrome
- ORPHA:261311 20q13.33 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:228402 2q23.1 microdeletion syndrome
- ORPHA:251014 2q31.1 microdeletion syndrome
- ORPHA:251019 2q32q33 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- OMIM:250951 3-@methylglutaconic aciduria, type IV
- OMIM:610198 3-@methylglutaconic aciduria, type V
- ORPHA:20 3-hydroxy-3-methylglutaric aciduria
- OMIM:246450 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency
- OMIM:231530 3-Hydroxyacyl-Coa dehydrogenase deficiency
- ORPHA:939 3-hydroxyisobutyric aciduria
- OMIM:236795 3-hydroxyisobutyric aciduria
- OMIM:250620 3-Hydroxyisobutyryl-Coa hydrolase deficiency
- OMIM:273750 3-M syndrome 1
- OMIM:210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency
- OMIM:210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency
- ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency
- ORPHA:67046 3-methylglutaconic aciduria type 1
- ORPHA:67047 3-methylglutaconic aciduria type 3
- ORPHA:67048 3-methylglutaconic aciduria type 4
- ORPHA:445038 3-methylglutaconic aciduria type 7
- ORPHA:505216 3-methylglutaconic aciduria type 9
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- OMIM:614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
- OMIM:250950 3-methylglutaconic aciduria, type I
- OMIM:258501 3-methylglutaconic aciduria, type III
- OMIM:617698 3-methylglutaconic aciduria, type IX
- OMIM:619835 3-methylglutaconic aciduria, type VIIA, autosomal dominant
- OMIM:617248 3-methylglutaconic aciduria, type VIII
- ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form
- ORPHA:7 3C syndrome
- ORPHA:2616 3M syndrome
- ORPHA:293843 3MC syndrome
- OMIM:257920 3mc syndrome 1
- OMIM:265050 3mc syndrome 2
- OMIM:248340 3MC syndrome 3
- ORPHA:1621 3q13 microdeletion syndrome
- ORPHA:65286 3q29 microdeletion 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
- OMIM:260005 5-@oxoprolinase deficiency
- ORPHA:251046 6p22 microdeletion syndrome
- ORPHA:75857 6q terminal deletion syndrome
- ORPHA:251056 6q25 microdeletion syndrome
- ORPHA:314034 7p22.1 microduplication syndrome
- ORPHA:96121 7q11.23 microduplication syndrome
- ORPHA:96092 8p inverted duplication/deletion syndrome
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:251076 8p23.1 duplication syndrome
- ORPHA:251071 8p23.1 microdeletion syndrome
- ORPHA:228399 8q12 microduplication syndrome
- ORPHA:284160 8q21.11 microdeletion syndrome
- ORPHA:178303 8q22.1 microdeletion syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
- ORPHA:324313 9p13 microdeletion syndrome
- ORPHA:531151 9q21.13 microdeletion syndrome
- ORPHA:401923 9q31.1q31.3 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Code pathologie
Nom de la pathologie
- ORPHA:85445 AA amyloidosis
- ORPHA:439232 AApoAIV amyloidosis
- OMIM:100050 Aarskog syndrome, autosomal dominant
- OMIM:305400 Aarskog-Scott syndrome
- ORPHA:915 Aarskog-Scott syndrome
- ORPHA:920 Ablepharon macrostomia syndrome
- OMIM:200110 Ablepharon-Macrostomia syndrome
- ORPHA:921 Abruzzo-Erickson syndrome
- ORPHA:3016 Absent radius-anogenital anomalies syndrome
- ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
- OMIM:619959 ACCES syndrome
- ORPHA:95626 Acquired central diabetes insipidus
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- ORPHA:2221 Acquired hypertrichosis lanuginosa
- ORPHA:454 Acquired ichthyosis
- ORPHA:79087 Acquired partial lipodystrophy
- ORPHA:99147 Acquired von Willebrand syndrome
- ORPHA:958 Acro-renal-mandibular syndrome
- ORPHA:959 Acro-renal-ocular syndrome
- OMIM:200990 Acrocallosal syndrome
- ORPHA:36 Acrocallosal syndrome
- ORPHA:2008 Acrocardiofacial syndrome
- OMIM:200995 Acrocephalopolydactylous dysplasia
- ORPHA:221054 Acrocephalopolydactyly
- 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
- OMIM:154400 Acrofacial dysostosis 1, Nager type
- OMIM:101805 Acrofacial dysostosis, Catania type
- ORPHA:1786 Acrofacial dysostosis, Catania type
- ORPHA:1788 Acrofacial dysostosis, Rodríguez type
- ORPHA:1784 Acrofrontofacionasal dysostosis
- OMIM:239710 Acrofrontofacionasal dysostosis 2
- ORPHA:963 Acromegaly
- OMIM:603671 Acromelic frontonasal dysostosis
- ORPHA:1827 Acromelic frontonasal dysplasia
- OMIM:609441 Acromesomelic dysplasia, Demirhan type
- ORPHA:971 Acrorenal syndrome
- OMIM:102520 Acrorenal syndrome
- OMIM:201310 Acrorenal syndrome, autosomal recessive
- OMIM:200980 Acrorenal-Mandibular syndrome
- OMIM:174770 Actinic prurigo
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:79276 Acute intermittent porphyria
- ORPHA:90062 Acute liver failure
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:520 Acute promyelocytic leukemia
- ORPHA:139417 Acute transverse myelitis
- ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency
- OMIM:201450 Acyl-Coa dehydrogenase, medium-chain, deficiency of
- OMIM:201470 Acyl-Coa dehydrogenase, short-chain, deficiency of
- OMIM:100300 Adams-Oliver syndrome 1
- OMIM:616589 Adams-Oliver syndrome 6
- ORPHA:85138 Addison disease
- ORPHA:976 Adenine phosphoribosyltransferase deficiency
- OMIM:614723 Adenine phosphoribosyltransferase deficiency
- ORPHA:95512 Adenohypophysitis
- OMIM:600458 Adenomyosis
- ORPHA:404448 ADNP syndrome
- 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:613743 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
- ORPHA:1501 Adrenocortical carcinoma
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- OMIM:103230 Adrenocortical hypofunction, chronic primary congenital
- OMIM:300100 Adrenoleukodystrophy
- ORPHA:139399 Adrenomyeloneuropathy
- ORPHA:977 Adrenomyodystrophy
- OMIM:300270 ADRENOMYODYSTROPHY
- ORPHA:206448 Adult Krabbe disease
- ORPHA:206583 Adult polyglucosan body disease
- ORPHA:99027 Adult-onset autosomal dominant leukodystrophy
- ORPHA:329478 Adult-onset distal myopathy due to VCP mutation
- ORPHA:139507 African iron overload
- ORPHA:3385 African trypanosomiasis
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:85448 AGel amyloidosis
- OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome
- ORPHA:250977 AICA-ribosiduria
- OMIM:608688 Aicar transformylase/imp cyclohydrolase deficiency
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619486 Aicardi-Goutieres syndrome 8
- OMIM:619487 Aicardi-Goutieres syndrome 9
- ORPHA:79085 AKT2-related familial partial lipodystrophy
- ORPHA:85443 AL amyloidosis
- OMIM:609465 Al-Gazali syndrome
- ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:52 Alagille syndrome
- OMIM:118450 Alagille syndrome 1
- OMIM:202900 Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
- OMIM:615071 Alazami syndrome
- OMIM:617126 Alazami-Yuan syndrome
- OMIM:103900 Aldosteronism, glucocorticoid-remediable
- ORPHA:363722 Alexander disease type II
- ORPHA:79327 ALG1-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79328 ALG9-CDG
- ORPHA:56 Alkaptonuria
- OMIM:203500 Alkaptonuria
- OMIM:617822 Alkuraya-Kucinskas syndrome
- ORPHA:59 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
- OMIM:618840 Alopecia-mental retardation syndrome 4
- ORPHA:60 Alpha-1-antitrypsin deficiency
- OMIM:204750 Alpha-aminoadipic and alpha-ketoadipic aciduria
- ORPHA:100025 Alpha-heavy chain disease
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- OMIM:614307 Alpha-methylacyl-CoA racemase deficiency
- ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome
- OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked
- ORPHA:63 Alport syndrome
- OMIM:203780 Alport syndrome 2, autosomal recessive
- OMIM:104200 Alport syndrome 3, autosomal dominant
- OMIM:301050 Alport syndrome, X-linked
- ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- ORPHA:284 Alveolar echinococcosis
- OMIM:619268 Alzahrani-Kuwahara syndrome
- OMIM:104350 Amastia, bilateral, with ureteral triplication and dysmorphism
- OMIM:619151 AMED syndrome, digenic
- OMIM:204690 Amelogenesis imperfecta, type IG (enamel-renal syndrome)
- OMIM:104600 Amenorrhea-Galactorrhea syndrome
- OMIM:204730 Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis
- OMIM:600325 Aminopterin syndrome sine aminopterin
- ORPHA:99742 Amish lethal microcephaly
- OMIM:300194 AMME complex
- ORPHA:68 Amoebiasis due to free-living amoebae
- OMIM:105200 Amyloidosis, familial visceral
- OMIM:105120 Amyloidosis, Finnish type
- OMIM:105210 Amyloidosis, hereditary, transthyretin-related
- OMIM:105300 Amyotrophic dystonic paraplegia
- OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile
- OMIM:602099 Amyotrophic lateral sclerosis 5, juvenile
- ORPHA:37553 Andersen-Tawil syndrome
- ORPHA:754 Androgen insensitivity syndrome
- OMIM:300068 Androgen insensitivity syndrome
- ORPHA:157954 ANE syndrome
- OMIM:105600 Anemia, dyserythropoietic congenital, type III
- OMIM:613673 Anemia, dyserythropoietic congenital, type IV
- OMIM:615234 Anemia, hypochromic microcytic, with iron overload 2
- OMIM:206400 Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism
- ORPHA:1054 Aneurysm of sinus of Valsalva
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- ORPHA:72 Angelman syndrome
- OMIM:106070 Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included
- ORPHA:2346 Angioosteohypertrophic syndrome
- OMIM:611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
- OMIM:206750 Aniridia, partial, with unilateral renal agenesis and psychomotorretardation
- ORPHA:1069 Aniridia-absent patella syndrome
- ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome
- ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12
- ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome
- OMIM:107100 Anorectal anomalies
- ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita
- OMIM:601427 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
- ORPHA:51890 Anterior cutaneous nerve entrapment syndrome
- ORPHA:375 Anti-glomerular basement membrane disease
- ORPHA:83 Antley-Bixler syndrome
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- OMIM:207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- OMIM:301800 Anus, imperforate
- OMIM:101200 Apert syndrome
- ORPHA:87 Apert syndrome
- OMIM:207620 Aphalangy with hemivertebrae
- ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- OMIM:207720 Apnea, central sleep
- ORPHA:320 Apparent mineralocorticoid excess
- ORPHA:2356 Arachnoid cyst
- ORPHA:137817 Arachnoiditis
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:1133 AREDYLD syndrome
- OMIM:207800 Argininemia
- ORPHA:90 Argininemia
- OMIM:207900 Argininosuccinic aciduria
- ORPHA:23 Argininosuccinic aciduria
- OMIM:243910 Arima syndrome
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:1136 Arnold-Chiari malformation type II
- OMIM:613546 Aromatase deficiency
- ORPHA:91 Aromatase deficiency
- ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome
- OMIM:208000 Arterial calcification, generalized, of infancy, 1
- OMIM:614473 Arterial calcification, generalized, of infancy, 2
- OMIM:208060 Arteriosclerosis, severe juvenile
- OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type
- OMIM:618947 Arthrogryposis multiplex congenita 5
- OMIM:619334 Arthrogryposis multiplex congenita 6
- OMIM:618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
- OMIM:618265 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- OMIM:108120 Arthrogryposis, distal, type 1A
- OMIM:619110 Arthrogryposis, distal, type 1C
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:114300 Arthrogryposis, distal, type 3
- OMIM:609128 Arthrogryposis, distal, type 4
- OMIM:615065 Arthrogryposis, distal, type 5D
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- ORPHA:137686 Asherman syndrome
- ORPHA:93 Aspartylglucosaminuria
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:1163 Aspergillosis
- OMIM:613091 Asphyxiating thoracic dystrophy 3
- OMIM:609033 Ataxia, posterior column, with retinitis pigmentosa
- ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- ORPHA:251347 Ataxia-telangiectasia-like disorder
- ORPHA:1190 Atelosteogenesis type I
- OMIM:108720 Atelosteogenesis, type I
- OMIM:209010 Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease
- ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- OMIM:300431 Atkin-Flaitz syndrome
- ORPHA:1193 Atkin-Flaitz syndrome
- ORPHA:105 Atresia of urethra
- ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- OMIM:600123 Atrioventricular septal defect with blepharophimosis and anal andradial defects
- ORPHA:220460 Attenuated familial adenomatous polyposis
- ORPHA:85447 ATTRV30M amyloidosis
- ORPHA:2134 Atypical hemolytic uremic syndrome
- ORPHA:79474 Atypical Werner syndrome
- OMIM:616580 Au-Kline syndrome
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- OMIM:608049 Autism, susceptibility to, 3
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- OMIM:617006 Autoimmune disease, multisystem, infantile-onset, 2
- ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:98375 Autoimmune hemolytic anemia
- ORPHA:90033 Autoimmune hemolytic anemia, warm type
- ORPHA:2137 Autoimmune hepatitis
- ORPHA:36913 Autoimmune hypoparathyroidism
- OMIM:616414 Autoimmune interstitial lung, joint, and kidney disease
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:603909 Autoimmune lymphoproliferative syndrome, type IIA
- OMIM:615559 Autoimmune lymphoproliferative syndrome, type III
- OMIM:240300 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
- ORPHA:3143 Autoimmune polyendocrinopathy type 2
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- OMIM:618999 Autoinflammation, immune dysregulation, and eosinophilia
- OMIM:616744 Autoinflammatory syndrome, familial, Behcet-like
- OMIM:619375 Autoinflammatory syndrome, familial, with or without immunodeficiency
- OMIM:301074 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- OMIM:619858 Autoinflammatory-pancytopenia syndrome
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:99 Autosomal dominant cerebellar ataxia
- ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:428 Autosomal dominant hypocalcemia
- ORPHA:89937 Autosomal dominant hypophosphatemic rickets
- ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome
- ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy
- ORPHA:93328 Autosomal dominant omodysplasia
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- ORPHA:730 Autosomal dominant polycystic kidney disease
- ORPHA:1300 Autosomal dominant popliteal pterygium syndrome
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:3107 Autosomal dominant Robinow syndrome
- ORPHA:100991 Autosomal dominant spastic paraplegia type 10
- ORPHA:100993 Autosomal dominant spastic paraplegia type 12
- ORPHA:100994 Autosomal dominant spastic paraplegia type 13
- ORPHA:100999 Autosomal dominant spastic paraplegia type 19
- ORPHA:101009 Autosomal dominant spastic paraplegia type 29
- ORPHA:100984 Autosomal dominant spastic paraplegia type 3
- ORPHA:320365 Autosomal dominant spastic paraplegia type 36
- ORPHA:171612 Autosomal dominant spastic paraplegia type 37
- ORPHA:171617 Autosomal dominant spastic paraplegia type 38
- ORPHA:100985 Autosomal dominant spastic paraplegia type 4
- ORPHA:320355 Autosomal dominant spastic paraplegia type 41
- ORPHA:100988 Autosomal dominant spastic paraplegia type 6
- ORPHA:444099 Autosomal dominant spastic paraplegia type 73
- ORPHA:100989 Autosomal dominant spastic paraplegia type 8
- ORPHA:447753 Autosomal dominant spastic paraplegia type 9A
- ORPHA:1797 Autosomal dominant spondylocostal dysostosis
- ORPHA:1027 Autosomal recessive amelia
- ORPHA:88644 Autosomal recessive ataxia, Beauce type
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity
- ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- OMIM:600142 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
- ORPHA:90349 Autosomal recessive cutis laxa type 1
- ORPHA:1974 Autosomal recessive faciodigitogenital syndrome
- ORPHA:329329 Autosomal recessive frontotemporal pachygyria
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets
- ORPHA:2990 Autosomal recessive multiple pterygium syndrome
- ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita
- ORPHA:93329 Autosomal recessive omodysplasia
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:2512 Autosomal recessive primary microcephaly
- ORPHA:1507 Autosomal recessive Robinow syndrome
- ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy
- ORPHA:100996 Autosomal recessive spastic paraplegia type 15
- ORPHA:101000 Autosomal recessive spastic paraplegia type 20
- ORPHA:101003 Autosomal recessive spastic paraplegia type 23
- ORPHA:101006 Autosomal recessive spastic paraplegia type 26
- ORPHA:101007 Autosomal recessive spastic paraplegia type 27
- ORPHA:171629 Autosomal recessive spastic paraplegia type 35
- ORPHA:320401 Autosomal recessive spastic paraplegia type 44
- ORPHA:320391 Autosomal recessive spastic paraplegia type 46
- ORPHA:306511 Autosomal recessive spastic paraplegia type 48
- ORPHA:100986 Autosomal recessive spastic paraplegia type 5A
- ORPHA:401835 Autosomal recessive spastic paraplegia type 70
- ORPHA:488594 Autosomal recessive spastic paraplegia type 76
- ORPHA:466722 Autosomal recessive spastic paraplegia type 77
- ORPHA:513436 Autosomal recessive spastic paraplegia type 78
- ORPHA:447760 Autosomal recessive spastic paraplegia type 9B
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:401849 Autosomal spastic paraplegia type 72
- ORPHA:454836 Avian influenza
- ORPHA:782 Axenfeld-Rieger syndrome
- OMIM:180500 Axenfeld-Rieger syndrome, type 1
- OMIM:601499 Axenfeld-rieger syndrome, type 2
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- OMIM:109130 Axial osteomalacia
- ORPHA:1272 Aymé-Gripp syndrome
- OMIM:301060 Azoospermia, obstructive, with nephrolithiasis
Code pathologie
Nom de la pathologie
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:108 Babesiosis
- ORPHA:36234 Bacterial toxic-shock syndrome
- OMIM:615485 Bainbridge-Ropers syndrome
- OMIM:218600 Baller-Gerold syndrome
- ORPHA:1225 Baller-Gerold syndrome
- OMIM:251290 Band-Like calcification with simplified gyration and polymicrogyria
- ORPHA:1227 Bangstad syndrome
- OMIM:153480 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome
- OMIM:243310 Baraitser-Winter syndrome 1
- OMIM:619255 Baralle-Macken syndrome
- OMIM:209885 Barber-Say syndrome
- ORPHA:1231 Barber-Say 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:615991 Bardet-Biedl syndrome 14
- OMIM:615993 Bardet-Biedl syndrome 16
- OMIM:615994 Bardet-Biedl syndrome 17
- OMIM:615995 Bardet-Biedl syndrome 18
- OMIM:615996 Bardet-Biedl syndrome 19
- OMIM:615981 Bardet-Biedl syndrome 2
- OMIM:619471 Bardet-Biedl syndrome 20
- OMIM:617406 Bardet-Biedl syndrome 21
- OMIM:617119 Bardet-Biedl syndrome 22
- OMIM:600151 Bardet-Biedl syndrome 3
- 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
- OMIM:615986 Bardet-Biedl syndrome 9
- OMIM:209920 Bare lymphocyte syndrome, type II
- OMIM:302060 Barth syndrome
- ORPHA:1234 Bartsocas-Papas syndrome
- ORPHA:89938 Bartter syndrome type 4
- OMIM:601678 Bartter syndrome, type 1, antenatal
- OMIM:241200 Bartter syndrome, type 2
- OMIM:607364 Bartter syndrome, type 3
- OMIM:602522 Bartter syndrome, type 4A, neonatal, with sensorineural deafness
- OMIM:613090 Bartter syndrome, type 4B, neonatal, with sensorineural deafness
- OMIM:300971 Bartter syndrome, type 5, antenatal, transient
- OMIM:109400 Basal cell nevus syndrome
- OMIM:213600 Basal ganglia calcification, idiopathic, 1
- OMIM:616449 Basel-Vanagaite-Smirin-Yosef syndrome
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- OMIM:123790 Beare-Stevenson cutis gyrata syndrome
- OMIM:613680 Beaulieu-Boycott-Innes syndrome
- ORPHA:98895 Becker muscular dystrophy
- ORPHA:64755 Becker nevus syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- OMIM:209970 Beemer lethal malformation syndrome
- ORPHA:1237 Beemer-Ertbruggen syndrome
- ORPHA:117 Behçet disease
- OMIM:109650 Behcet syndrome
- OMIM:614592 Bent bone dysplasia syndrome
- OMIM:620076 Bent bone dysplasia syndrome 2
- OMIM:231200 Bernard-Soulier syndrome
- ORPHA:274 Bernard-Soulier syndrome
- OMIM:153670 Bernard-Soulier syndrome, type A2, autosomal dominant
- OMIM:210100 Beta-aminoisobutyric acid, urinary excretion of
- ORPHA:134 Beta-ketothiolase deficiency
- ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria
- ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- ORPHA:848 Beta-thalassemia
- ORPHA:231222 Beta-thalassemia intermedia
- OMIM:613161 Beta-ureidopropionase deficiency
- ORPHA:141333 Biemond syndrome type 2
- OMIM:608980 Bifid nose with or without anorectal and renal anomalies
- OMIM:109740 Bifid nose, autosomal dominant
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:79241 Biotinidase deficiency
- OMIM:253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset
- OMIM:617595 Birk-Landau-Perez syndrome
- OMIM:135150 Birt-Hogg-Dube syndrome
- ORPHA:122 Birt-Hogg-Dubé syndrome
- OMIM:262000 Bjornstad syndrome
- ORPHA:123 Björnstad syndrome
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:109800 Bladder cancer
- OMIM:109820 Bladder diverticulum
- OMIM:191800 Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
- ORPHA:93930 Bladder exstrophy
- ORPHA:90340 Blau syndrome
- OMIM:614201 Bleeding disorder, platelet-type, 11
- OMIM:605735 Bleeding disorder, platelet-type, 12
- OMIM:616176 Bleeding disorder, platelet-type, 19
- OMIM:616913 Bleeding disorder, platelet-type, 20
- OMIM:617443 Bleeding disorder, platelet-type, 21
- OMIM:619271 Bleeding disorder, platelet-type, 24, autosomal dominant
- ORPHA:1252 Blepharonasofacial malformation syndrome
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:110100 Blepharophimosis, epicanthus inversus, and ptosis
- OMIM:619293 Blepharophimosis-impaired intellectual development syndrome
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type
- ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome
- ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- OMIM:211000 Blue diaper syndrome
- ORPHA:94086 Blue diaper syndrome
- ORPHA:217266 BNAR syndrome
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- OMIM:617052 Bone marrow failure syndrome 3
- OMIM:618165 Bone marrow failure syndrome 5
- ORPHA:1263 Boomerang dysplasia
- ORPHA:107 BOR syndrome
- OMIM:301900 Borjeson-Forssman-Lehmann syndrome
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:603457 Bosma arhinia microphthalmia syndrome
- ORPHA:1267 Botulism
- OMIM:215470 Boucher-Neuhauser syndrome
- ORPHA:83313 Boutonneuse fever
- ORPHA:1270 Bowen-Conradi syndrome
- OMIM:601353 Brachycephaly, deafness, cataract, microstomia, and mental retardation
- OMIM:113000 Brachydactyly, type B1
- ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome
- OMIM:612847 Brachyolmia 4 with mild epiphyseal and metaphyseal changes
- OMIM:271630 Brachyolmia type 1, Toledo type
- OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome
- ORPHA:52047 Braddock syndrome
- OMIM:619980 Braddock-Carey syndrome 1
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- OMIM:613735 Brain malformations with or without urinary tract defects
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- ORPHA:209905 Brain-lung-thyroid syndrome
- OMIM:301950 Branchial arch syndrome, X-linked
- ORPHA:1297 Branchio-oculo-facial syndrome
- OMIM:113620 Branchiooculofacial syndrome
- OMIM:113650 Branchiootorenal syndrome 1
- OMIM:610896 Branchiootorenal syndrome 2
- ORPHA:1299 Branchioskeletogenital syndrome
- OMIM:604370 Breast-Ovarian cancer, familial, susceptibility to, 1
- OMIM:612555 Breast-Ovarian cancer, familial, susceptibility to, 2
- OMIM:616001 Breasts and/or nipples, aplasia or hypoplasia of, 2
- ORPHA:85284 BRESEK syndrome
- OMIM:614707 Brown-Vialetto-Van laere syndrome 2
- ORPHA:1304 Brucellosis
- OMIM:609220 Bruck syndrome 2
- ORPHA:36237 Bullous impetigo
- OMIM:619314 Buratti-Harel syndrome
- ORPHA:543 Burkitt lymphoma
- OMIM:608572 Burn-Mckeown syndrome
- ORPHA:1306 Buschke-Ollendorff syndrome
Code pathologie
Nom de la pathologie
- ORPHA:1308 C syndrome
- OMIM:211750 C syndrome
- OMIM:613652 C1q deficiency
- ORPHA:329918 C3 glomerulopathy
- ORPHA:135 CACH syndrome
- ORPHA:280062 Calciphylaxis
- ORPHA:83472 CAMOS syndrome
- ORPHA:1318 Campomelia, Cumming type
- OMIM:211890 Campomelia, Cumming type
- OMIM:114290 Campomelic dysplasia
- ORPHA:140 Campomelic dysplasia
- OMIM:114150 CAMPTOBRACHYDACTYLY
- ORPHA:1319 Camptobrachydactyly
- OMIM:114200 Camptodactyly 1
- ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2
- ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3
- OMIM:611929 Camptodactyly syndrome, Guadalajara, type III
- ORPHA:1325 Camptodactyly-taurinuria syndrome
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:606631 Camurati-engelmann disease, type 2
- OMIM:271900 Canavan disease
- ORPHA:71505 Cancer-associated retinopathy
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome
- ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency
- OMIM:212093 Cardiac valvular defect, developmental
- OMIM:618280 Cardiac-Urogenital syndrome
- ORPHA:2872 Cardiocranial syndrome, Pfeiffer type
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:619123 Cardiofacioneurodevelopmental syndrome
- ORPHA:97292 Cardiogenic shock
- OMIM:157800 Cardiospondylocarpofacial syndrome
- ORPHA:1358 Carey-Fineman-Ziter syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- ORPHA:1359 Carney complex
- OMIM:212140 Carnitine deficiency, systemic primary
- ORPHA:156 Carnitine palmitoyl transferase 1A deficiency
- ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form
- ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form
- ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form
- OMIM:255120 Carnitine palmitoyltransferase I deficiency
- ORPHA:157 Carnitine palmitoyltransferase II deficiency
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- OMIM:255110 Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
- OMIM:212138 Carnitine-acylcarnitine translocase deficiency
- ORPHA:159 Carnitine-acylcarnitine translocase deficiency
- ORPHA:1361 Carnosinase deficiency
- OMIM:212200 CARNOSINEMIA
- ORPHA:53035 Caroli disease
- ORPHA:480520 Caroli syndrome
- ORPHA:65759 Carpenter syndrome
- OMIM:201000 Carpenter syndrome 1
- OMIM:614976 Carpenter syndrome 2
- ORPHA:175 Cartilage-hair hypoplasia
- ORPHA:160 Castleman disease
- OMIM:115470 Cat eye syndrome
- ORPHA:195 Cat-eye syndrome
- OMIM:612018 Cataract, juvenile, with microcornea and glucosuria
- ORPHA:1383 Cataract-deafness-hypogonadism syndrome
- ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome
- ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome
- ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- OMIM:616145 Catel-Manzke syndrome
- ORPHA:1123 Caudal appendage-deafness syndrome
- ORPHA:1756 Caudal duplication
- OMIM:607864 Caudal duplication anomaly
- ORPHA:3027 Caudal regression syndrome
- OMIM:603116 CDAGS syndrome
- ORPHA:66631 CEDNIK syndrome
- OMIM:212750 Celiac disease, susceptibility to, 1
- OMIM:212780 Cenani-Lenz syndactyly syndrome
- ORPHA:3258 Cenani-Lenz syndrome
- ORPHA:178029 Central diabetes insipidus
- OMIM:619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- OMIM:212840 Cerebellar ataxia and hypogonadotropic hypogonadism
- OMIM:601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
- ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome
- ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome
- OMIM:619761 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
- OMIM:213010 Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome
- OMIM:618479 Cerebellar, ocular, craniofacial, and genital syndrome
- ORPHA:444072 Cerebellar-facial-dental syndrome
- OMIM:616202 Cerebellofaciodental syndrome
- OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy
- ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- OMIM:612718 Cerebral creatine deficiency syndrome 3
- ORPHA:1393 Cerebrocostomandibular syndrome
- OMIM:117650 Cerebrocostomandibular syndrome
- ORPHA:314679 Cerebrofacioarticular syndrome
- OMIM:214150 Cerebrooculofacioskeletal syndrome 1
- OMIM:610756 Cerebrooculofacioskeletal syndrome 2
- OMIM:610758 Cerebrooculofacioskeletal syndrome 4
- OMIM:605627 Cerebrooculonasal syndrome
- ORPHA:66625 Cerebrooculonasal syndrome
- OMIM:603956 Cervical cancer
- OMIM:601389 Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction
- OMIM:614809 Cfhr5 deficiency
- ORPHA:1401 CHAND syndrome
- ORPHA:101085 Charcot-Marie-Tooth disease type 1F
- OMIM:616688 Charcot-Marie-Tooth disease, axonal, type 2Z
- OMIM:614455 Charcot-Marie-Tooth disease, dominant intermediate E
- OMIM:615284 Charcot-Marie-Tooth disease, type 4B3
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- OMIM:302905 Charge-Like syndrome, X-linked
- OMIM:118420 Chiari malformation type I
- ORPHA:64280 Childhood absence epilepsy
- ORPHA:168782 Childhood disintegrative disorder
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:3474 CHIME syndrome
- ORPHA:173 Cholera
- OMIM:620010 Cholestasis, progressive familial intrahepatic, 12
- ORPHA:1414 Cholestasis-lymphedema syndrome
- OMIM:215050 Chondrodysplasia calcificans metaphysealis
- OMIM:302950 Chondrodysplasia punctata 1, X-linked recessive
- OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant
- ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- OMIM:619504 Chopra-Amiel-Gordon syndrome
- OMIM:616368 CHOPS syndrome
- OMIM:601372 Chorea, remitting, with nystagmus and cataract
- OMIM:609625 Chromosome 10q26 deletion syndrome
- OMIM:613884 Chromosome 13q14 deletion syndrome
- OMIM:619148 Chromosome 13q33-q34 deletion syndrome
- OMIM:613457 Chromosome 14q11-q22 deletion syndrome
- OMIM:614294 Chromosome 15q25 deletion syndrome
- OMIM:612626 Chromosome 15q26-qter deletion syndrome
- OMIM:616863 Chromosome 16p13.2 deletion syndrome
- OMIM:610543 Chromosome 16p13.3 deletion syndrome
- OMIM:613458 Chromosome 16p13.3 duplication syndrome
- OMIM:614541 Chromosome 16q22 deletion syndrome
- OMIM:618874 Chromosome 17q11.2 duplication syndrome, 1.4-Mb
- OMIM:614527 Chromosome 17q12 deletion syndrome
- OMIM:146390 Chromosome 18p deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal
- OMIM:617219 Chromosome 19q13.11 deletion syndrome, proximal
- OMIM:617930 Chromosome 1p35 deletion syndrome
- OMIM:607872 Chromosome 1p36 deletion syndrome
- OMIM:618815 Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster
- OMIM:612530 Chromosome 1q41-q42 deletion syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:613792 Chromosome 3pter-p25 deletion syndrome
- OMIM:615433 Chromosome 3q13.31 deletion syndrome
- OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome
- OMIM:613544 Chromosome 6q11-q14 deletion syndrome
- OMIM:614230 Chromosome 8q21.11 deletion syndrome
- OMIM:158170 Chromosome 9P deletion syndrome
- OMIM:300578 Chromosome xp11.3 deletion syndrome
- OMIM:300869 Chromosome xq27.3-q28 duplication syndrome
- ORPHA:99921 Chronic graft versus host disease
- OMIM:618935 Chronic granulomatous disease 5, autosomal recessive
- ORPHA:1334 Chronic mucocutaneous candidiasis
- ORPHA:435651 CIDEC-related familial partial lipodystrophy
- OMIM:242670 Ciliary dyskinesia with defective radial spokes
- OMIM:244400 Ciliary dyskinesia, primary, 1
- OMIM:612649 Ciliary dyskinesia, primary, 11
- OMIM:612650 Ciliary dyskinesia, primary, 12
- OMIM:613193 Ciliary dyskinesia, primary, 13
- OMIM:613807 Ciliary dyskinesia, primary, 14
- OMIM:613808 Ciliary dyskinesia, primary, 15
- OMIM:614874 Ciliary dyskinesia, primary, 18
- OMIM:614935 Ciliary dyskinesia, primary, 19
- OMIM:606763 Ciliary dyskinesia, primary, 2
- OMIM:615067 Ciliary dyskinesia, primary, 20
- OMIM:615444 Ciliary dyskinesia, primary, 22
- OMIM:615481 Ciliary dyskinesia, primary, 24
- OMIM:615482 Ciliary dyskinesia, primary, 25
- OMIM:615500 Ciliary dyskinesia, primary, 26
- OMIM:615872 Ciliary dyskinesia, primary, 29
- OMIM:616481 Ciliary dyskinesia, primary, 32
- OMIM:617091 Ciliary dyskinesia, primary, 34
- OMIM:300991 Ciliary dyskinesia, primary, 36, X-linked
- OMIM:617577 Ciliary dyskinesia, primary, 37
- OMIM:618063 Ciliary dyskinesia, primary, 38
- OMIM:618300 Ciliary dyskinesia, primary, 40
- OMIM:618449 Ciliary dyskinesia, primary, 41
- OMIM:618801 Ciliary dyskinesia, primary, 45
- OMIM:619436 Ciliary dyskinesia, primary, 46
- OMIM:612444 Ciliary dyskinesia, primary, 9, with or without situs inversus
- OMIM:619273 Cimdag syndrome
- OMIM:215600 Cirrhosis, familial
- ORPHA:247585 Citrullinemia type II
- OMIM:215700 Citrullinemia, classic
- OMIM:603471 Citrullinemia, type II, adult-onset
- OMIM:300602 Clark-Baraitser syndrome
- ORPHA:79239 Classic galactosemia
- ORPHA:287 Classical Ehlers-Danlos syndrome
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome
- OMIM:216100 Cleft lip/palate with abnormal thumbs and microcephaly
- ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome
- OMIM:600460 Cleft palate, cardiac defect, genital anomalies, and ectrodactyly
- OMIM:616728 Cleft palate, psychomotor retardation, and distinctive facial features
- ORPHA:2013 Cleft palate-large ears-small head syndrome
- ORPHA:228346 CLN3 disease
- ORPHA:93929 Cloacal exstrophy
- ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome
- OMIM:216360 Coach syndrome 1
- OMIM:619111 Coach syndrome 2
- OMIM:619113 COACH syndrome 3
- ORPHA:1911 Cocaine embryofetopathy
- ORPHA:90068 Cocaine intoxication
- ORPHA:228123 Coccidioidomycosis
- ORPHA:191 Cockayne syndrome
- OMIM:216400 Cockayne syndrome A
- ORPHA:90321 Cockayne syndrome type 1
- ORPHA:90322 Cockayne syndrome type 2
- ORPHA:90324 Cockayne syndrome type 3
- OMIM:133540 Cockayne syndrome, type B
- ORPHA:1458 CODAS syndrome
- OMIM:600373 CODAS syndrome
- OMIM:607426 Coenzyme Q10 deficiency, primary, 1
- OMIM:614652 Coenzyme Q10 deficiency, primary, 3
- OMIM:614650 Coenzyme Q10 deficiency, primary, 6
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- OMIM:303600 Coffin-Lowry syndrome
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:135900 Coffin-Siris syndrome 1
- OMIM:619325 Coffin-Siris syndrome 12
- OMIM:614607 Coffin-Siris syndrome 2
- OMIM:615866 Coffin-Siris syndrome 9
- ORPHA:1466 COFS syndrome
- ORPHA:263487 COG5-CDG
- ORPHA:79333 COG7-CDG
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:193 Cohen syndrome
- OMIM:617561 Cohen-Gibson syndrome
- ORPHA:31824 Colchicine poisoning
- ORPHA:56425 Cold agglutinin disease
- OMIM:115250 Collagenoma, familial cutaneous
- OMIM:120400 Coloboma of macula with type B brachydactyly
- ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome
- OMIM:120200 Coloboma, ocular
- OMIM:120433 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
- OMIM:601794 Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome
- ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- OMIM:114500 Colorectal cancer
- OMIM:614337 Colorectal cancer, hereditary nonpolyposis, type 4
- OMIM:614350 Colorectal cancer, hereditary nonpolyposis, type 5
- OMIM:613244 Colorectal cancer, hereditary nonpolyposis, type 8
- OMIM:612591 Colorectal cancer, susceptibility to, 10
- OMIM:615182 Combined d-2- and l-2-hydroxyglutaric aciduria
- ORPHA:35909 Combined deficiency of factor V and factor VIII
- ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency
- ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency
- ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies
- ORPHA:289504 Combined malonic and methylmalonic acidemia
- OMIM:614265 Combined malonic and methylmalonic aciduria
- ORPHA:565624 Combined oxidative phosphorylation defect type 39
- OMIM:614922 Combined oxidative phosphorylation deficiency 11
- OMIM:614946 Combined oxidative phosphorylation deficiency 14
- OMIM:615595 Combined oxidative phosphorylation deficiency 19
- OMIM:616239 Combined oxidative phosphorylation deficiency 24
- OMIM:617664 Combined oxidative phosphorylation deficiency 32
- OMIM:617713 Combined oxidative phosphorylation deficiency 33
- OMIM:617872 Combined oxidative phosphorylation deficiency 34
- OMIM:617950 Combined oxidative phosphorylation deficiency 36
- OMIM:618329 Combined oxidative phosphorylation deficiency 37
- OMIM:618958 Combined oxidative phosphorylation deficiency 47
- OMIM:611719 Combined oxidative phosphorylation deficiency 5
- OMIM:619386 Combined oxidative phosphorylation deficiency 52
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:619743 Combined oxidative phosphorylation deficiency 55
- OMIM:614582 Combined oxidative phosphorylation deficiency 9
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- OMIM:613779 Complement component 3 deficiency, autosomal recessive
- OMIM:614380 Complement component 4A deficiency
- OMIM:216950 Complement component c1r deficiency
- OMIM:609814 Complement factor H deficiency
- OMIM:610984 Complement factor I deficiency
- ORPHA:99429 Complete androgen insensitivity syndrome
- ORPHA:3216 Conductive deafness-malformed external ear syndrome
- OMIM:600624 Cone-Rod dystrophy 1
- ORPHA:294975 Congenital absence of upper arm and forearm with hand present
- 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:79 Congenital alpha2-antiplasmin deficiency
- ORPHA:210122 Congenital alveolar capillary dysplasia
- OMIM:143400 Congenital anomalies of kidney and urinary tract 2
- OMIM:618270 Congenital anomalies of kidney and urinary tract 3
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- OMIM:610805 Congenital anomalies of kidney and urinary tract, susceptibility to
- OMIM:611890 Congenital arthrogryposis with anterior horn cell disease
- ORPHA:48 Congenital bilateral absence of vas deferens
- ORPHA:79303 Congenital bile acid synthesis defect type 2
- 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:615273 Congenital disorder of deglycosylation 1
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:619493 Congenital disorder of glycosylation, type 2V
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:602579 Congenital disorder of glycosylation, type Ib
- OMIM:609180 Congenital disorder of glycosylation, type IF
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- OMIM:608104 Congenital disorder of glycosylation, type Ih
- OMIM:606056 Congenital disorder of glycosylation, type IIB
- OMIM:608779 Congenital disorder of glycosylation, type IIe
- OMIM:603585 Congenital disorder of glycosylation, type IIf
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM:613612 Congenital disorder of glycosylation, type IIi
- OMIM:614727 Congenital disorder of glycosylation, type IIK
- OMIM:614576 Congenital disorder of glycosylation, type IIl
- OMIM:300896 Congenital disorder of glycosylation, type IIm
- OMIM:301045 Congenital disorder of glycosylation, type IIr
- OMIM:618885 Congenital disorder of glycosylation, type IIt
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- OMIM:608093 Congenital disorder of glycosylation, type Ij
- OMIM:608540 Congenital disorder of glycosylation, type Ik
- OMIM:608776 Congenital disorder of glycosylation, type Il
- OMIM:614921 Congenital disorder of glycosylation, type It
- OMIM:615597 Congenital disorder of glycosylation, type Ix
- OMIM:300934 Congenital disorder of glycosylation, type Iy
- ORPHA:79277 Congenital erythropoietic porphyria
- ORPHA:325 Congenital factor II deficiency
- ORPHA:326 Congenital factor V deficiency
- ORPHA:327 Congenital factor VII deficiency
- ORPHA:328 Congenital factor X deficiency
- ORPHA:329 Congenital factor XI deficiency
- ORPHA:331 Congenital factor XIII deficiency
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:528 Congenital generalized lipodystrophy
- ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome
- OMIM:617602 Congenital heart defects and skeletal malformations syndrome
- OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ORPHA:442 Congenital hypothyroidism
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency
- OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- ORPHA:93109 Congenital megacalycosis
- ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:370968 Congenital muscular dystrophy with intellectual disability
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:839 Congenital nephrotic syndrome, Finnish type
- ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency
- ORPHA:617 Congenital primary megaureter
- OMIM:613679 Congenital prothrombin deficiency
- ORPHA:91411 Congenital ptosis
- ORPHA:2301 Congenital short bowel syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:141127 Congenital tracheal stenosis
- ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris
- OMIM:217100 Constricting bands, congenital
- ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome
- OMIM:121300 Coproporphyria
- ORPHA:199 Cornelia de Lange syndrome
- OMIM:122470 Cornelia de Lange syndrome 1
- OMIM:610759 Cornelia de Lange syndrome 3
- OMIM:300882 Cornelia de Lange syndrome 5
- ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome
- OMIM:300004 Corpus callosum, agenesis of, with abnormal genitalia
- OMIM:217980 Corpus callosum, agenesis of, with facial anomalies and Robin sequence
- OMIM:300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia
- OMIM:611489 Corticosteroid-binding globulin deficiency
- ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome
- OMIM:203400 Corticosterone methyloxidase type I deficiency
- OMIM:604931 Cortisone reductase deficiency 1
- OMIM:218040 Costello syndrome
- ORPHA:3071 Costello syndrome
- OMIM:260660 Cousin syndrome
- ORPHA:201 Cowden syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:615107 Cowden syndrome 4
- OMIM:615108 Cowden syndrome 5
- OMIM:615109 Cowden syndrome 6
- OMIM:612359 Cowden-Like syndrome
- ORPHA:202 Crandall syndrome
- ORPHA:1512 Crane-Heise syndrome
- OMIM:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:614099 Cranioectodermal dysplasia 3
- OMIM:614378 Cranioectodermal dysplasia 4
- OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- OMIM:218350 Craniofacial dyssynostosis with short stature
- OMIM:300712 Craniofacioskeletal syndrome
- ORPHA:1520 Craniofrontonasal dysplasia
- ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome
- OMIM:304110 Craniofrontonasal syndrome
- OMIM:607812 Craniolenticulosutural dysplasia
- ORPHA:54595 Craniopharyngioma
- OMIM:218450 Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
- OMIM:218550 Craniosynostosis with fibular aplasia
- ORPHA:2145 Craniosynostosis, Herrmann-Opitz type
- ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- OMIM:218650 Craniosynostosis-Mental retardation-clefting syndrome
- OMIM:606851 Cree mental retardation syndrome
- OMIM:123450 Cri-Du-Chat syndrome
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- OMIM:218900 Crome syndrome
- ORPHA:2935 Crossed polysyndactyly
- OMIM:123500 Crouzon syndrome
- OMIM:123540 Cryofibrinogenemia, familial primary
- OMIM:123550 Cryoglobulinemia, familial mixed
- ORPHA:91138 Cryoglobulinemic vasculitis
- ORPHA:1546 Cryptococcosis
- OMIM:123560 Cryptomicrotia-Brachydactyly syndrome
- ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- OMIM:219050 Cryptorchidism, unilateral or bilateral
- ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- OMIM:615849 Culler-Jones syndrome
- ORPHA:1552 Currarino syndrome
- OMIM:176450 Currarino syndrome
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia
- ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- OMIM:123700 Cutis laxa, autosomal dominant 1
- OMIM:616603 Cutis laxa, autosomal dominant 3
- OMIM:219100 Cutis laxa, autosomal recessive, type IA
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- OMIM:617402 Cutis laxa, autosomal recessive, type IIC
- OMIM:617403 Cutis laxa, autosomal recessive, type IID
- OMIM:219150 Cutis laxa, autosomal recessive, type IIIA
- OMIM:614438 Cutis laxa, autosomal recessive, type IIIB
- ORPHA:1556 Cutis marmorata telangiectatica congenita
- ORPHA:212 Cystathioninuria
- OMIM:219500 CYSTATHIONINURIA
- ORPHA:400 Cystic echinococcosis
- ORPHA:586 Cystic fibrosis
- OMIM:219700 Cystic fibrosis
- OMIM:219721 Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation
- ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- ORPHA:2111 Cystic hamartoma of lung and kidney
- ORPHA:213 Cystinosis
- OMIM:219900 Cystinosis, late-onset juvenile or adolescent nephropathic
- OMIM:219800 Cystinosis, nephropathic
- ORPHA:214 Cystinuria
- OMIM:220100 Cystinuria
- ORPHA:2437 Czeizel-Losonci syndrome
Code pathologie
Nom de la pathologie
- OMIM:600721 D-2-Hydroxyglutaric aciduria 1
- OMIM:613657 D-2-hydroxyglutaric aciduria 2
- OMIM:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:941 D-glyceric aciduria
- ORPHA:1563 Dahlberg-Borer-Newcomer syndrome
- OMIM:124100 Danubian endemic familial nephropathy
- ORPHA:300536 DDOST-CDG
- ORPHA:2962 De Barsy syndrome
- OMIM:278800 De Sanctis-Cacchione syndrome
- OMIM:221200 Deafness and myopia
- OMIM:124900 Deafness, autosomal dominant 1
- OMIM:605192 Deafness, autosomal dominant 23
- OMIM:608653 Deafness, autosomal recessive 32, with or without immotile sperm
- OMIM:300719 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
- OMIM:221300 Deafness, conductive, with malformed external ear
- OMIM:220900 Deafness, congenital, with total albinism
- OMIM:611102 Deafness, sensorineural, and male infertility
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:90646 Deafness-hypogonadism syndrome
- ORPHA:94064 Deafness-infertility syndrome
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- OMIM:619004 Deeah syndrome
- OMIM:619488 DEGCAGS syndrome
- OMIM:194380 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
- OMIM:619613 Delayed puberty, self-limited
- OMIM:400003 Deleted in azoospermia
- ORPHA:1652 Dent disease
- OMIM:300009 Dent disease 1
- OMIM:300555 Dent disease 2
- ORPHA:220 Denys-Drash syndrome
- OMIM:194080 Denys-Drash syndrome
- ORPHA:99688 Dermotrichic syndrome
- ORPHA:873 Desmoid tumor
- ORPHA:83469 Desmoplastic small round cell tumor
- ORPHA:35107 Desmosterolosis
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:619983 Developmental and epileptic encephalopathy 105 with hypopituitarism
- OMIM:618298 Developmental and epileptic encephalopathy 70
- OMIM:619124 Developmental and epileptic encephalopathy 89
- OMIM:301058 Developmental and epileptic encephalopathy 90
- ORPHA:313892 Developmental and speech delay due to SOX5 deficiency
- OMIM:618454 Developmental delay with or without dysmorphic facies and autism
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:620062 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
- OMIM:616901 Developmental delay with short stature, dysmorphic features, and sparse hair
- OMIM:620012 Developmental delay, hypotonia, and impaired language
- OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:617991 Developmental delay, intellectual disability, obesity, and dysmorphic features
- OMIM:620141 Developmental delay, language impairment, and ocular abnormalities
- ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ORPHA:1666 Dextrocardia
- OMIM:125800 Diabetes insipidus, nephrogenic, 2
- OMIM:304800 Diabetes insipidus, nephrogenic, X-linked
- OMIM:304900 Diabetes insipidus, Neurohypophyseal type
- OMIM:222100 Diabetes mellitus, insulin-dependent-1
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- OMIM:618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features
- ORPHA:1926 Diabetic embryopathy
- OMIM:222350 DIAMINOPENTANURIA
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:613309 Diamond-blackfan anemia 10
- OMIM:614900 Diamond-Blackfan anemia 11
- OMIM:300946 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
- OMIM:612528 Diamond-Blackfan anemia 5
- OMIM:612562 Diamond-Blackfan anemia 7
- ORPHA:66637 Diaphanospondylodysostosis
- OMIM:608022 Diaphanospondylodysostosis
- ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome
- OMIM:601163 Diaphragmatic defects, limb deficiencies, and ossification defects of skull
- OMIM:620025 Diaphragmatic hernia 4, with cardiovascular defects
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- OMIM:270420 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
- ORPHA:628 Diastrophic dysplasia
- OMIM:222690 Dibasic amino aciduria I
- OMIM:222730 Dicarboxylicamino aciduria
- ORPHA:1672 Diencephalic syndrome
- ORPHA:1916 Diethylstilbestrol syndrome
- OMIM:618846 Diets-Jongmans syndrome
- ORPHA:90060 Diffuse alveolar hemorrhage
- ORPHA:220393 Diffuse cutaneous systemic sclerosis
- ORPHA:2123 Diffuse neonatal hemangiomatosis
- OMIM:188400 Digeorge syndrome
- ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency
- OMIM:274270 Dihydropyrimidine dehydrogenase deficiency
- OMIM:222748 Dihydropyrimidinuria
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- OMIM:605850 Dimethylglycine dehydrogenase deficiency
- ORPHA:227 Diphallia
- ORPHA:2412 Dislocation of the hip-dysmorphism syndrome
- ORPHA:2983 Disorder of sex development-intellectual disability syndrome
- OMIM:613571 Disordered steroidogenesis due to cytochrome P450 oxidoreductase
- ORPHA:261222 Distal 16p11.2 microdeletion syndrome
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:261337 Distal 22q11.2 microduplication syndrome
- ORPHA:261102 Distal 7q11.23 microduplication syndrome
- ORPHA:1307 Distal limb deficiencies-micrognathia syndrome
- ORPHA:1580 Distal monosomy 10p
- ORPHA:96148 Distal monosomy 10q
- ORPHA:96149 Distal monosomy 12q
- ORPHA:1590 Distal monosomy 13q
- ORPHA:1596 Distal monosomy 15q
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:1620 Distal monosomy 3p
- ORPHA:1636 Distal monosomy 7q36
- ORPHA:1642 Distal monosomy 9p
- ORPHA:18 Distal renal tubular acidosis
- OMIM:602722 Distal renal tubular acidosis 3, with or without sensorineural hearing loss
- ORPHA:314588 Distal tetrasomy 15q
- ORPHA:1705 Distal trisomy 14q
- ORPHA:1707 Distal trisomy 15q
- ORPHA:3379 Distal trisomy 17q
- ORPHA:1716 Distal trisomy 18q
- ORPHA:96097 Distal trisomy 5q
- ORPHA:1745 Distal trisomy 6p
- OMIM:223330 Diverticulosis of bowel, hernia, and retinal detachment
- OMIM:223340 Dk phocomelia syndrome
- ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- OMIM:222448 Donnai-Barrow syndrome
- ORPHA:2143 Donnai-Barrow syndrome
- OMIM:246200 Donohue syndrome
- OMIM:220500 Doors syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:255 Dopa-responsive dystonia
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- OMIM:300018 Dosage-Sensitive sex reversal
- ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome
- ORPHA:79145 Dowling-Degos disease
- ORPHA:870 Down syndrome
- ORPHA:79322 DPM1-CDG
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:90037 Drug-induced autoimmune hemolytic anemia
- ORPHA:231111 Drug-induced lupus erythematosus
- ORPHA:233 Duane retraction syndrome
- OMIM:607323 Duane-Radial ray syndrome
- ORPHA:234 Dubin-Johnson syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:100076 Duodenal neuroendocrine tumor
- ORPHA:314621 Duplication of the pituitary gland
- ORPHA:237 Duplication of urethra
- OMIM:619955 Dworschak-Punetha neurodevelopmental syndrome
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- ORPHA:412 Dysbetalipoproteinemia
- OMIM:127350 Dyschondrosteosis and nephritis
- ORPHA:1765 Dyschondrosteosis-nephritis syndrome
- ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613989 Dyskeratosis congenita, autosomal dominant 2
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- OMIM:613987 Dyskeratosis congenita, autosomal recessive, 2
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:305000 Dyskeratosis congenita, X-linked
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- OMIM:224250 Dysmyelination with jaundice
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
- ORPHA:412217 Dystonia-aphonia syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2554 Ear-patella-short stature syndrome
- ORPHA:1934 Early infantile epileptic encephalopathy
- ORPHA:556030 Early-onset familial hypoaldosteronism
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- ORPHA:96369 Early-onset schizophrenia
- ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- ORPHA:199343 EAST syndrome
- OMIM:609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome
- 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
- OMIM:617821 Ehlers-Danlos syndrome, arthrochalasia type, 2
- OMIM:606408 Ehlers-Danlos syndrome, classic-like
- OMIM:618000 Ehlers-Danlos syndrome, classic-like, 2
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- OMIM:601776 Ehlers-Danlos syndrome, musculocontractural type 1
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- ORPHA:97214 Eisenmenger syndrome
- ORPHA:289 Ellis Van Creveld syndrome
- OMIM:225500 Ellis-Van creveld syndrome
- OMIM:211380 Elsahy-Waters syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- ORPHA:1031 Enamel-renal syndrome
- ORPHA:83600 Encephalitis lethargica
- OMIM:613001 Encephalocraniocutaneous lipomatosis
- OMIM:614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
- ORPHA:833 Encephalopathy due to sulfite oxidase deficiency
- OMIM:602473 Encephalopathy, ethylmalonic
- OMIM:617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
- ORPHA:2022 Endocardial fibroelastosis
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- OMIM:608089 Endometrial carcinoma, somatic
- OMIM:131200 Endometriosis, susceptibility to, 1
- OMIM:619218 ENDOVE syndrome, limb-brain type
- OMIM:619217 Endove syndrome, Limb-Only type
- ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis
- OMIM:600631 Enuresis, nocturnal, 1
- OMIM:600808 Enuresis, nocturnal, 2
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- ORPHA:251636 Ependymoma
- ORPHA:35125 Epidermal nevus syndrome
- OMIM:226670 Epidermolysis bullosa simplex with muscular dystrophy
- ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia
- OMIM:619816 Epidermolysis bullosa, junctional 5A, intermediate
- OMIM:226730 Epidermolysis bullosa, junctional, with pyloric atresia
- OMIM:618832 Epilepsy, early-onset, with or without developmental delay
- OMIM:616640 Epilepsy, progressive myoclonic, 10
- OMIM:254900 Epilepsy, progressive myoclonic, 4, with or without renal failure
- OMIM:617105 Epileptic encephalopathy, early infantile, 41
- OMIM:616457 Epileptic encephalopathy, early infantile, 50
- OMIM:618067 Epileptic encephalopathy, early infantile, 66
- OMIM:618548 Epileptic encephalopathy, early infantile, 77
- OMIM:618580 Epileptic encephalopathy, early infantile, 80
- OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
- ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- ORPHA:2056 Essential fructosuria
- OMIM:615363 Estrogen resistance
- ORPHA:785 Estrogen resistance syndrome
- ORPHA:31826 Ethylene glycol poisoning
- ORPHA:51188 Ethylmalonic encephalopathy
- OMIM:616854 Even-Plus syndrome
- ORPHA:466650 Exercise-induced malignant hyperthermia
- OMIM:600057 Exstrophy of bladder
- ORPHA:322 Exstrophy-epispadias complex
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:227255 Facial dysmorphism with multiple malformations
- OMIM:601552 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome
- ORPHA:1973 Faciocardiorenal syndrome
- OMIM:227280 Faciocardiorenal syndrome
- OMIM:227330 Faciodigitogenital syndrome, autosomal recessive
- OMIM:227320 Faciothoracogenital syndrome
- OMIM:613625 Factor V and factor VIII, combined deficiency of
- OMIM:227400 Factor V deficiency
- OMIM:227500 Factor VII deficiency
- OMIM:227600 Factor X deficiency
- ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome
- OMIM:616415 Familial adenomatous polyposis 3
- OMIM:617100 Familial adenomatous polyposis 4
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- ORPHA:98880 Familial afibrinogenemia
- OMIM:613399 Familial breast-ovarian cancer-1
- OMIM:120100 Familial cold inflammatory syndrome 1
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:238722 Familial congenital mirror movements
- ORPHA:1764 Familial dysautonomia
- OMIM:174810 Familial expansile osteolysis
- ORPHA:361 Familial glucocorticoid deficiency
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis
- ORPHA:251274 Familial hyperaldosteronism type III
- ORPHA:397685 Familial hyperprolactinemia
- ORPHA:427 Familial hypoaldosteronism
- ORPHA:405 Familial hypocalciuric hypercalcemia
- OMIM:615861 Familial idiopathic steroid-resistant nephrotic syndrome
- 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:342 Familial Mediterranean fever
- OMIM:134610 Familial Mediterranean fever, AD
- OMIM:249100 Familial Mediterranean fever, AR
- 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:2456 Familial supernumerary nipples
- ORPHA:53715 Familial tumoral calcinosis
- 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:614083 Fanconi anemia, complementation group L
- OMIM:610832 Fanconi anemia, complementation group N
- OMIM:613390 Fanconi anemia, complementation group O
- OMIM:613951 Fanconi anemia, complementation group P
- OMIM:617883 Fanconi anemia, complementation group S
- OMIM:617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U
- OMIM:617784 Fanconi anemia, complementation group W
- OMIM:134600 Fanconi renotubular syndrome 1
- OMIM:613388 Fanconi renotubular syndrome 2
- OMIM:615605 Fanconi renotubular syndrome 3
- OMIM:616026 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- OMIM:618913 Fanconi renotubular syndrome 5
- OMIM:227810 Fanconi-Bickel syndrome
- ORPHA:2088 Fanconi-Bickel syndrome
- OMIM:600072 Fatal familial insomnia
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- OMIM:619376 Faundes-Banka syndrome
- ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- OMIM:153640 Fechtner syndrome
- ORPHA:391641 Feingold syndrome type 1
- ORPHA:47612 Felty syndrome
- ORPHA:488191 Female infertility due to oocyte meiotic arrest
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- OMIM:619699 Ferguson-Bonni neurodevelopmental syndrome
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- OMIM:618388 Fetal akinesia deformation sequence 2
- OMIM:618393 Fetal akinesia deformation sequence 4
- ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia
- OMIM:613630 Fetal encasement syndrome
- ORPHA:1912 Fetal hydantoin syndrome
- ORPHA:1918 Fetal minoxidil syndrome
- ORPHA:1913 Fetal trimethadione syndrome
- ORPHA:93932 FG syndrome type 1
- ORPHA:313855 FGFR2-related bent bone dysplasia
- OMIM:135580 Fibromuscular dysplasia of arteries
- ORPHA:84090 Fibronectin glomerulopathy
- ORPHA:249 Fibrous dysplasia of bone
- OMIM:228930 Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
- ORPHA:1757 Fibular dimelia-diplopodia syndrome
- ORPHA:93323 Fibular hemimelia
- ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome
- OMIM:228940 Fibuloulnar aplasia or hypoplasia with renal abnormalities
- OMIM:272440 Filippi syndrome
- ORPHA:3255 Filippi syndrome
- ORPHA:293812 Fixed drug eruption
- ORPHA:1968 Flat face-microstomia-ear anomaly syndrome
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:2045 FLOTCH syndrome
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- ORPHA:1807 Focal facial dermal dysplasia type III
- OMIM:603278 Focal segmental glomerulosclerosis 1
- OMIM:256020 Focal segmental glomerulosclerosis 10
- OMIM:603965 Focal segmental glomerulosclerosis 2
- OMIM:607832 Focal segmental glomerulosclerosis 3, susceptibility to
- OMIM:612551 Focal segmental glomerulosclerosis 4, susceptibility to
- OMIM:614131 Focal segmental glomerulosclerosis 6
- OMIM:616002 Focal segmental glomerulosclerosis 7
- OMIM:616032 Focal segmental glomerulosclerosis 8
- OMIM:616220 Focal segmental glomerulosclerosis 9
- OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- ORPHA:79093 Foix-Alajouanine syndrome
- OMIM:612289 Fontaine progeroid syndrome
- ORPHA:228371 Foodborne botulism
- ORPHA:51208 Formiminoglutamic aciduria
- OMIM:229100 Formiminotransferase deficiency
- OMIM:613606 Forsythe-Wakeling syndrome
- ORPHA:2795 Fowler urethral sphincter dysfunction syndrome
- OMIM:136580 Fragile site 16q22
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- OMIM:617666 Fraser syndrome 2
- OMIM:617667 Fraser syndrome 3
- OMIM:229230 Fraser-Like syndrome
- OMIM:136680 Frasier syndrome
- ORPHA:347 Frasier syndrome
- ORPHA:834 Free sialic acid storage disease
- ORPHA:2053 Freeman-Sheldon syndrome
- ORPHA:1826 Frontometaphyseal dysplasia
- OMIM:305620 Frontometaphyseal dysplasia
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:613451 Frontonasal dysplasia 2
- ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome
- OMIM:615911 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7
- OMIM:229600 Fructose intolerance, hereditary
- OMIM:229700 Fructose-1,6-Bisphosphatase deficiency
- ORPHA:348 Fructose-1,6-bisphosphatase deficiency
- OMIM:600776 Fryns microphthalmia syndrome
- OMIM:229850 Fryns syndrome
- ORPHA:2059 Fryns syndrome
- OMIM:230000 FUCOSIDOSIS
- ORPHA:349 Fucosidosis
- OMIM:606812 Fumarase deficiency
- ORPHA:91348 Functioning gonadotropic adenoma
- ORPHA:228119 Fusariosis
Code pathologie
Nom de la pathologie
- OMIM:617557 Gabriele-De vries syndrome
- ORPHA:506358 Gabriele-de Vries syndrome
- ORPHA:90041 Gaisböck syndrome
- ORPHA:79237 Galactokinase deficiency
- OMIM:230200 Galactokinase deficiency
- OMIM:230300 GALACTORRHEA
- ORPHA:79238 Galactose epimerase deficiency
- OMIM:230350 Galactose epimerase deficiency
- OMIM:230400 GALACTOSEMIA
- ORPHA:352 Galactosemia
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:619609 Galloway-Mowat syndrome 10
- OMIM:301006 Galloway-Mowat syndrome 2, X-linked
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:617730 Galloway-Mowat syndrome 4
- OMIM:617731 Galloway-Mowat syndrome 5
- OMIM:618347 Galloway-Mowat syndrome 6
- OMIM:618348 Galloway-Mowat syndrome 7
- OMIM:618349 Galloway-Mowat syndrome 8
- OMIM:619603 Galloway-Mowat syndrome 9
- ORPHA:251937 Gangliocytoma
- ORPHA:251992 Ganglioneuroma
- OMIM:230740 Gapo syndrome
- ORPHA:2067 GAPO syndrome
- ORPHA:79665 Gardner syndrome
- OMIM:613659 Gastric cancer, somatic
- OMIM:619708 Gastrointestinal defects and immunodeficiency syndrome 2
- 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:2074 Gemignani syndrome
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:786 Generalized glucocorticoid resistance syndrome
- ORPHA:99845 Genetic recurrent myoglobinuria
- ORPHA:656 Genetic steroid-resistant nephrotic syndrome
- ORPHA:2075 Genitopalatocardiac syndrome
- OMIM:231060 Genitopalatocardiac syndrome
- ORPHA:85201 Genitopatellar syndrome
- OMIM:606170 Genitopatellar syndrome
- OMIM:618820 Genitourinary and/or/brain malformation syndrome
- OMIM:305690 Genitourinary tract anomalies
- ORPHA:2077 German syndrome
- ORPHA:99926 Gestational choriocarcinoma
- ORPHA:397 Giant cell arteritis
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- OMIM:273800 Glanzmann thrombasthenia
- ORPHA:849 Glanzmann thrombasthenia
- OMIM:619267 Glanzmann thrombasthenia 2
- OMIM:616568 Glioma susceptibility 9
- OMIM:619243 Global developmental delay with speech and behavioral abnormalities
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- OMIM:618272 Global developmental delay, lung cysts, overgrowth, and wilms tumor
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome
- OMIM:609886 Glomerulocystic kidney disease with hyperuricemia and isosthenuria
- OMIM:137950 Glomerulopathy with fibronectin deposits 1
- OMIM:601894 Glomerulopathy with fibronectin deposits 2
- OMIM:613237 Glomerulosclerosis, focal segmental, 5
- ORPHA:83454 Glomuvenous malformation
- OMIM:614736 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
- OMIM:615962 Glucocorticoid resistance, generalized
- OMIM:138070 GLUCOGLYCINURIA
- ORPHA:35710 Glucose-galactose malabsorption
- OMIM:606824 Glucose/galactose malabsorption
- ORPHA:33574 Glutamate-cysteine ligase deficiency
- OMIM:231670 Glutaric acidemia I
- ORPHA:35706 Glutaric acidemia type 3
- OMIM:231690 Glutaric aciduria III
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- OMIM:266130 Glutathione synthetase deficiency
- OMIM:307030 Glycerol kinase deficiency
- OMIM:605899 Glycine encephalopathy
- OMIM:138500 Glycinuria with or without oxalate urolithiasis
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset
- ORPHA:57 Glycogen storage disease due to aldolase A deficiency
- ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency
- ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency
- ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
- ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency
- ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
- ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency
- OMIM:232200 Glycogen storage disease Ia
- OMIM:232220 Glycogen storage disease Ib
- OMIM:232240 Glycogen storage disease Ic
- OMIM:232300 Glycogen storage disease II
- OMIM:232500 Glycogen storage disease IV
- OMIM:261740 Glycogen storage disease of heart, lethal congenital
- OMIM:232600 Glycogen storage disease V
- OMIM:232800 Glycogen storage disease VII
- OMIM:612933 Glycogen storage disease XI
- OMIM:611881 Glycogen storage disease XII
- OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18
- ORPHA:354 GM1 gangliosidosis
- ORPHA:79255 GM1 gangliosidosis type 1
- OMIM:230500 GM1-gangliosidosis, type I
- OMIM:138790 Goiter, multinodular, cystic renal disease, and digital anomalies
- ORPHA:66629 Goldberg-Shprintzen megacolon syndrome
- OMIM:609460 Goldberg-Shprintzen syndrome
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- OMIM:424500 GONADOBLASTOMA
- ORPHA:206484 Gonadoblastoma
- ORPHA:169105 Good syndrome
- OMIM:233450 Goodpasture syndrome
- ORPHA:376 Gordon syndrome
- ORPHA:377 Gorlin syndrome
- OMIM:300323 Gout, hprt-related
- OMIM:602361 Gracile bone dysplasia
- OMIM:603358 Gracile syndrome
- ORPHA:53693 GRACILE syndrome
- OMIM:602531 Grange syndrome
- ORPHA:900 Granulomatosis with polyangiitis
- ORPHA:33111 Granulomatous slack skin
- ORPHA:721 Gray platelet syndrome
- OMIM:139090 Gray platelet syndrome
- OMIM:175700 Greig cephalopolysyndactyly syndrome
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- ORPHA:181393 Growth hormone insensitivity syndrome
- OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
- OMIM:612938 Growth retardation, developmental delay, coarse facies, and earlydeath
- OMIM:617093 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
- ORPHA:414 Gyrate atrophy of choroid and retina
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- OMIM:612946 Hadziselimovic syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:611174 Hamamy syndrome
- ORPHA:73229 HANAC syndrome
- ORPHA:2438 Hand-foot-genital syndrome
- OMIM:140000 Hand-Foot-Genital syndrome
- OMIM:618892 Harderoporphyria
- OMIM:301068 Hardikar syndrome
- OMIM:601095 Harrod syndrome
- ORPHA:2115 Harrod syndrome
- ORPHA:2116 Hartnup disease
- OMIM:234500 Hartnup disorder
- OMIM:615465 Hartsfield syndrome
- ORPHA:2118 Hawkinsinuria
- OMIM:140350 Hawkinsinuria
- ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome
- ORPHA:1350 Heart-hand syndrome type 2
- ORPHA:2119 HEC syndrome
- OMIM:617671 Helix syndrome
- ORPHA:244242 HELLP syndrome
- ORPHA:252054 Hemangioblastoma
- OMIM:141200 Hematuria, benign familial
- OMIM:614034 Heme oxygenase-1 deficiency
- OMIM:164210 Hemifacial microsomia
- OMIM:235000 Hemihyperplasia, isolated
- ORPHA:276280 Hemihyperplasia-multiple lipomatosis 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:231900 Hemolytic anemia due to glutathione synthetase deficiency
- OMIM:612300 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
- OMIM:301015 Hemolytic anemia, congenital, X-linked
- OMIM:300908 Hemolytic anemia, G6PD deficient (favism)
- OMIM:235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1
- OMIM:612922 Hemolytic uremic syndrome, atypical, susceptibility to, 2
- OMIM:612923 Hemolytic uremic syndrome, atypical, susceptibility to, 3
- OMIM:612924 Hemolytic uremic syndrome, atypical, susceptibility to, 4
- OMIM:612925 Hemolytic uremic syndrome, atypical, susceptibility to, 5
- OMIM:612926 Hemolytic uremic syndrome, atypical, susceptibility to, 6
- OMIM:613730 Hemorrhagic destruction of the brain, subependymal calcification,and cataracts
- ORPHA:340 Hemorrhagic fever-renal syndrome
- OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome
- OMIM:618154 Hennekam lymphangiectasia-lymphedema syndrome 3
- ORPHA:2136 Hennekam syndrome
- OMIM:142330 Hepatic adenomas, familial
- ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
- ORPHA:890 Hepatic veno-occlusive disease
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- ORPHA:95159 Hepatoerythropoietic porphyria
- OMIM:619902 Hepatorenocardiac degenerative fibrosis
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:85450 Hereditary amyloidosis with primary renal involvement
- ORPHA:145 Hereditary breast and ovarian cancer syndrome
- ORPHA:1867 Hereditary bullous dystrophy, macular type
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:90045 Hereditary folate malabsorption
- ORPHA:469 Hereditary fructose intolerance
- ORPHA:774 Hereditary hemorrhagic telangiectasia
- ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria
- ORPHA:411602 Hereditary late-onset Parkinson disease
- ORPHA:523 Hereditary leiomyomatosis and renal cell cancer
- OMIM:150800 Hereditary leiomyomatosis and renal cell cancer
- ORPHA:157794 Hereditary mixed polyposis syndrome
- ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type
- OMIM:606071 Hereditary motor and sensory neuropathy, type IIC
- ORPHA:1839 Hereditary mucoepithelial dysplasia
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:94088 Hereditary renal hypouricemia
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:3467 Hereditary xanthinuria
- ORPHA:79430 Hermansky-Pudlak syndrome
- OMIM:203300 Hermansky-Pudlak syndrome 1
- OMIM:619172 Hermansky-Pudlak syndrome 11
- OMIM:614073 Hermansky-Pudlak syndrome 4
- OMIM:614074 Hermansky-Pudlak syndrome 5
- OMIM:614077 Hermansky-Pudlak syndrome 8
- OMIM:306955 Heterotaxy, visceral, 1, X-linked
- OMIM:619607 Heterotaxy, visceral, 10, autosomal, with male infertility
- OMIM:619608 Heterotaxy, visceral, 11, autosomal, with male infertility
- OMIM:270100 Heterotaxy, visceral, 5
- OMIM:618948 Heterotaxy, visceral, 9, autosomal, with male infertility
- ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type
- ORPHA:84085 Hinman syndrome
- OMIM:235760 Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures
- OMIM:235740 Hirschsprung disease with polydactyly, renal agenesis, and deafness
- OMIM:613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction
- ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome
- OMIM:235800 HISTIDINEMIA
- ORPHA:2157 Histidinemia
- OMIM:235830 Histidinuria due to A renal tubular defect
- ORPHA:2158 Histidinuria-renal tubular defect syndrome
- ORPHA:137675 Histiocytoid cardiomyopathy
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:79242 Holocarboxylase synthetase deficiency
- OMIM:253270 Holocarboxylase synthetase deficiency
- ORPHA:2162 Holoprosencephaly
- OMIM:236100 Holoprosencephaly 1
- OMIM:142945 Holoprosencephaly 3
- OMIM:610829 Holoprosencephaly 9
- OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis
- ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome
- ORPHA:2167 Holzgreve syndrome
- OMIM:236110 Holzgreve syndrome
- OMIM:236130 HOMOCARNOSINOSIS
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- OMIM:236270 Homocystinuria-megaloblastic anemia, cbl E type
- OMIM:250940 Homocystinuria-megaloblastic anemia, cblg Complementation type
- OMIM:606528 Homozygous 11p15-p14 deletion syndrome
- ORPHA:391665 Homozygous familial hypercholesterolemia
- ORPHA:391417 HSD10 disease
- ORPHA:391428 HSD10 disease, infantile type
- ORPHA:391457 HSD10 disease, neonatal type
- ORPHA:3266 Humero-radio-ulnar synostosis
- OMIM:236400 Humeroradial synostosishumeroradial/multiple synostosis syndrome
- OMIM:611962 Hunter-Macdonald syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- OMIM:236450 Hutterite cerebroosteonephrodysplasia syndrome
- ORPHA:99927 Hydatidiform mole
- OMIM:618431 Hydatidiform mole, recurrent, 3
- OMIM:618432 Hydatidiform mole, recurrent, 4
- OMIM:236690 Hydrocephalus, normal pressure, 1
- ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome
- ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome
- ORPHA:2189 Hydrolethalus
- OMIM:236680 Hydrolethalus syndrome 1
- ORPHA:1041 Hydrops fetalis
- ORPHA:79155 Hydroxykynureninuria
- OMIM:236800 Hydroxykynureninuria
- OMIM:236900 Hydroxylysinuria
- OMIM:237000 HYDROXYPROLINEMIA
- OMIM:237100 Hymen, imperforate
- OMIM:237400 HYPER-BETA-ALANINEMIA
- OMIM:260920 Hyper-Igd syndrome
- OMIM:613677 Hyperaldosteronism, familial, type III
- OMIM:615751 Hyperammonemia due to carbonic anhydrase VA deficiency
- OMIM:614156 Hyperbiliverdinemia
- OMIM:616963 Hypercalcemia, infantile 2
- OMIM:143880 Hypercalcemia, infantile, 1
- OMIM:143870 Hypercalciuria, absorptive, susceptibility to
- OMIM:238320 Hypergonadotropic hypogonadism
- ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome
- ORPHA:263455 Hyperinsulinism due to HNF4A deficiency
- ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome
- ORPHA:2203 Hyperlysinemia
- OMIM:238700 Hyperlysinemia, type I
- OMIM:238750 Hyperlysinuria with hyperammonemia
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- OMIM:238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
- ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- OMIM:144800 Hyperostosis frontalis interna
- OMIM:259900 Hyperoxaluria, primary, type I
- OMIM:260000 Hyperoxaluria, primary, type II
- OMIM:613616 Hyperoxaluria, primary, type III
- OMIM:145001 Hyperparathyroidism 2
- OMIM:617343 Hyperparathyroidism 4
- OMIM:239199 Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
- OMIM:239200 Hyperparathyroidism, neonatal severe
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome
- OMIM:264070 Hyperphenylalaninemia, BH4-deficient, D
- OMIM:239300 Hyperphosphatasia with mental retardation
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:239350 Hyperphosphatemia, polyuria, and seizures
- OMIM:615555 HYPERPROLACTINEMIA
- ORPHA:419 Hyperprolinemia type 1
- ORPHA:79101 Hyperprolinemia type 2
- OMIM:239500 Hyperprolinemia, type I
- OMIM:239510 Hyperprolinemia, type II
- OMIM:145295 Hypersecretion of adrenal androgens, familial
- OMIM:614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
- OMIM:239800 Hypertelorism, microtia, facial clefting syndrome
- OMIM:614187 Hypertelorism, preauricular sinus, punctal pits, and deafness
- ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome
- ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome
- OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant
- OMIM:600627 HYPERTRYPTOPHANEMIA
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- OMIM:614227 Hyperuricemic nephropathy, familial juvenile, 3
- 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
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- ORPHA:2228 Hypodontia-dysplasia of nails syndrome
- 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: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: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:238468 Hypohidrotic ectodermal dysplasia
- OMIM:241150 Hypokalemic alkalosis, familial, with specific renal tubulopathy
- OMIM:619406 Hypokalemic tubulopathy and deafness
- OMIM:154020 Hypomagnesemia 2, renal
- OMIM:248250 Hypomagnesemia 3, renal
- OMIM:248190 Hypomagnesemia 5, renal, with or without ocular involvement
- OMIM:618314 Hypomagnesemia, seizures, and mental retardation 2
- ORPHA:1790 Hypomandibular faciocranial dysostosis
- OMIM:146160 Hypomelia with mullerian duct anomalies
- ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- OMIM:146200 Hypoparathyroidism, familial isolated
- OMIM:146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- OMIM:241510 Hypophosphatasia, childhood
- OMIM:241500 Hypophosphatasia, infantile
- ORPHA:437 Hypophosphatemic rickets
- OMIM:612089 Hypophosphatemic rickets and hyperparathyroidism
- OMIM:241530 Hypophosphatemic rickets with hypercalciuria, hereditary
- OMIM:193100 Hypophosphatemic rickets, autosomal dominant
- OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2
- OMIM:307800 Hypophosphatemic rickets, X-linked dominant
- OMIM:300554 Hypophosphatemic rickets, X-linked recessive
- OMIM:618541 Hypopigmentation, organomegaly, and delayed myelination and development
- ORPHA:722 Hypoplasminogenemia
- ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- OMIM:300633 Hypospadias 1, X-linked
- OMIM:300758 Hypospadias 2, X-linked
- OMIM:146450 Hypospadias 3, autosomal
- OMIM:603463 Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
- ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome
- OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- OMIM:301033 Hypothyroidism, congenital, nongoitrous, 8
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
- OMIM:616816 Hypotonia, infantile, with psychomotor retardation
- OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
- OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:163690 Hypotonia-cystinuria syndrome
- OMIM:607823 Hypotrichosis-Lymphedema-Telangiectasia syndrome
- ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- OMIM:137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome
- OMIM:242050 Hypouricemia, hypercalcinuria, and decreased bone density
- OMIM:220150 Hypouricemia, renal, 1
- OMIM:612076 Hypouricemia, renal, 2
- ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Code pathologie
Nom de la pathologie
- ORPHA:254509 Iatrogenic botulism
- OMIM:308200 Ichthyosis and male hypogonadism
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:242100 Ichthyosis, congenital, autosomal recessive 2
- OMIM:242530 Ichthyosis, mental retardation, dwarfism, and renal impairment
- OMIM:242550 Ichthyosis, split hairs, and amino aciduria
- OMIM:308100 Ichthyosis, X-linked
- ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- OMIM:618527 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
- ORPHA:209919 Idiopathic copper-associated cirrhosis
- ORPHA:2197 Idiopathic hypercalciuria
- ORPHA:95707 Idiopathic isolated micropenis
- ORPHA:567544 Idiopathic non-lupus full-house nephropathy
- ORPHA:99931 Idiopathic pulmonary hemosiderosis
- ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome
- ORPHA:69061 Idiopathic steroid-sensitive nephrotic syndrome
- ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- OMIM:161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1
- OMIM:613944 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2
- OMIM:616818 Iga nephropathy, susceptibility to, 3
- ORPHA:449400 IgG4-related aortitis
- ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:449427 IgG4-related pachymeningitis
- ORPHA:49041 IgG4-related retroperitoneal fibrosis
- ORPHA:449432 IgG4-related submandibular gland disease
- ORPHA:100078 Ileal neuroendocrine tumor
- OMIM:618786 Imagawa-Matsumoto syndrome
- ORPHA:85173 IMAGe syndrome
- OMIM:618882 Imerslund-Grasbeck syndrome 2
- ORPHA:35858 Imerslund-Gräsbeck syndrome
- OMIM:242600 IMINOGLYCINURIA
- ORPHA:42062 Iminoglycinuria
- ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- OMIM:615607 Immunodeficiency 17
- OMIM:615816 Immunodeficiency 23
- OMIM:615966 Immunodeficiency 26 with or without neurologic abnormalities
- OMIM:616433 Immunodeficiency 40
- OMIM:300988 Immunodeficiency 50
- OMIM:618131 Immunodeficiency 58
- OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity
- OMIM:608203 Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619644 Immunodeficiency 91 and hyperinflammation
- OMIM:619774 Immunodeficiency 96
- OMIM:619802 Immunodeficiency 97 with autoinflammation
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- OMIM:608106 Immunodeficiency with hyper IgM, type 5
- OMIM:613496 Immunodeficiency, common variable, 6
- OMIM:614699 Immunodeficiency, common variable, 7
- OMIM:611926 Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis
- OMIM:616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3
- OMIM:304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
- ORPHA:761 Immunoglobulin A vasculitis
- OMIM:300076 Immunoneurologic disorder, X-linked
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- OMIM:243000 Indifference to pain, congenital, autosomal recessive
- OMIM:243050 Indolylacroyl glycinuria with mental retardation
- ORPHA:1909 Indomethacin embryofetopathy
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:2591 Infantile myofibromatosis
- ORPHA:411629 Infantile nephropathic cystinosis
- OMIM:269920 Infantile sialic acid storage disease
- ORPHA:3173 Infantile spasms-broad thumbs syndrome
- ORPHA:2176 Infantile systemic hyalinosis
- ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy
- ORPHA:544482 Infection-related hemolytic uremic syndrome
- OMIM:612567 Inflammatory bowel disease 25, early onset, autosomal recessive
- OMIM:618213 Inflammatory bowel disease, immunodeficiency, and encephalopathy
- OMIM:600989 Infundibulopelvic dysgenesis
- ORPHA:254504 Inhalational botulism
- ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- ORPHA:63259 Iniencephaly
- ORPHA:2298 Insulin-resistance syndrome type B
- OMIM:619326 Intellectual developmental disorder and hypogonadotropic hypogonadism
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- OMIM:617452 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
- OMIM:618748 Intellectual developmental disorder with hypotonia and behavioral abnormalities
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:618060 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
- OMIM:615502 Intellectual developmental disorder, autosomal dominant 21
- OMIM:612337 Intellectual developmental disorder, autosomal dominant 22
- OMIM:615761 Intellectual developmental disorder, autosomal dominant 23
- OMIM:617751 Intellectual developmental disorder, autosomal dominant 48
- OMIM:617788 Intellectual developmental disorder, autosomal dominant 51
- OMIM:617796 Intellectual developmental disorder, autosomal dominant 52
- OMIM:617798 Intellectual developmental disorder, autosomal dominant 53
- OMIM:617799 Intellectual developmental disorder, autosomal dominant 54
- OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:615942 Intellectual developmental disorder, autosomal recessive 44
- OMIM:618109 Intellectual developmental disorder, autosomal recessive 65
- OMIM:618402 Intellectual developmental disorder, autosomal recessive 70
- OMIM:618504 Intellectual developmental disorder, autosomal recessive 71
- OMIM:619827 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
- OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
- OMIM:301039 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:3079 Intellectual disability, Buenos-Aires type
- ORPHA:3080 Intellectual disability, Wolff type
- ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome
- ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome
- ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
- ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked
- ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome
- ORPHA:3082 Intellectual disability-polydactyly-uncombable hair 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
- ORPHA:279914 Intermediate uveitis
- ORPHA:37202 Interstitial cystitis
- OMIM:615486 Interstitial lung and liver disease
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- OMIM:614817 Interstitial nephritis, karyomegalic
- OMIM:263000 Interstitial pneumonitis, desquamative, familial
- OMIM:300048 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
- ORPHA:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
- 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:99925 Invasive mole
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency
- ORPHA:98797 Isochromosomy Yp
- ORPHA:98798 Isochromosomy Yq
- ORPHA:30391 Isolated biliary atresia
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:93928 Isolated epispadias
- ORPHA:52901 Isolated follicle stimulating hormone deficiency
- ORPHA:408 Isolated glycerol kinase deficiency
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- ORPHA:2128 Isolated hemihyperplasia
- ORPHA:2345 Isolated Klippel-Feil syndrome
- ORPHA:137902 Isolated optic nerve hypoplasia/aplasia
- ORPHA:166119 Isolated osteopoikilosis
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:2924 Isolated polycystic liver disease
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:457083 Isolated splenogonadal fusion
- ORPHA:3208 Isolated succinate-CoQ reductase deficiency
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- OMIM:243500 Isovaleric acidemia
- ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20
- ORPHA:2307 IVIC syndrome
- OMIM:147750 Ivic syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- ORPHA:100077 Jejunal neuroendocrine tumor
- ORPHA:474 Jeune syndrome
- OMIM:243800 Johanson-Blizzard syndrome
- ORPHA:2315 Johanson-Blizzard syndrome
- OMIM:147770 Johnson neuroectodermal syndrome
- ORPHA:2316 Johnson neuroectodermal syndrome
- OMIM:213300 Joubert syndrome 1
- OMIM:614424 Joubert syndrome 14
- OMIM:614464 Joubert syndrome 15
- OMIM:614465 Joubert syndrome 16
- OMIM:614615 Joubert syndrome 17
- OMIM:614815 Joubert syndrome 18
- OMIM:608091 Joubert syndrome 2
- OMIM:614970 Joubert syndrome 20
- OMIM:615636 Joubert syndrome 21
- OMIM:615665 Joubert syndrome 22
- OMIM:616784 Joubert syndrome 26
- OMIM:608629 Joubert syndrome 3
- OMIM:618161 Joubert syndrome 35
- OMIM:619185 Joubert syndrome 37
- OMIM:619562 Joubert syndrome 39
- OMIM:609583 Joubert syndrome 4
- OMIM:610188 Joubert syndrome 5
- OMIM:610688 Joubert syndrome 6
- OMIM:611560 Joubert syndrome 7
- OMIM:612285 Joubert syndrome 9
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:2318 Joubert syndrome with oculorenal defect
- ORPHA:220497 Joubert syndrome with renal defect
- ORPHA:2319 Juberg-Hayward syndrome
- ORPHA:79405 Junctional epidermolysis bullosa inversa
- ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia
- ORPHA:2321 Jung syndrome
- ORPHA:300605 Juvenile amyotrophic lateral sclerosis
- ORPHA:411634 Juvenile nephropathic cystinosis
- ORPHA:79076 Juvenile polyposis of infancy
- ORPHA:2929 Juvenile polyposis syndrome
- ORPHA:247604 Juvenile primary lateral sclerosis
- ORPHA:93399 Juvenile sialidosis type 2
Code pathologie
Nom de la pathologie
- ORPHA:2322 Kabuki syndrome
- OMIM:147920 Kabuki syndrome 1
- OMIM:300867 Kabuki syndrome 2
- ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- ORPHA:478 Kallmann syndrome
- OMIM:308750 Kallmann syndrome with spastic paraplegia
- ORPHA:2326 Kallmann syndrome-heart disease syndrome
- OMIM:609242 Kanzaki disease
- ORPHA:464329 Kaposiform lymphangiomatosis
- OMIM:244300 Kapur-Toriello syndrome
- ORPHA:2328 Kapur-Toriello syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- ORPHA:2331 Kawasaki disease
- OMIM:148050 KBG syndrome
- ORPHA:2332 KBG syndrome
- ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability
- OMIM:530000 Kearns-Sayre syndrome
- ORPHA:435628 Keppen-Lubinsky syndrome
- OMIM:244600 Keratoconus posticus circumscriptus
- ORPHA:494 Keratoderma hereditarium mutilans
- ORPHA:293807 Ketamine-induced biliary dilatation
- OMIM:618460 Khan-Khan-Katsanis syndrome
- ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome
- ORPHA:2908 Kindler epidermolysis bullosa
- OMIM:173650 Kindler syndrome
- OMIM:619542 King-Denborough syndrome
- OMIM:619297 KINSSHIP syndrome
- OMIM:610253 Kleefstra syndrome
- ORPHA:261494 Kleefstra syndrome
- ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion
- ORPHA:261652 Kleefstra syndrome due to a point mutation
- OMIM:118100 Klippel-Feil syndrome 1, autosomal dominant
- ORPHA:90308 Klippel-Trénaunay syndrome
- ORPHA:485 Kniest dysplasia
- ORPHA:1571 Knobloch syndrome
- OMIM:267750 Knobloch syndrome, type 1
- OMIM:619229 Kohlschutter-Tonz syndrome-like
- OMIM:610443 Koolen-De Vries syndrome
- ORPHA:96169 Koolen-De Vries syndrome
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
- ORPHA:306674 Kufor-Rakeb syndrome
- OMIM:619762 Kury-Isidor syndrome
- ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome
Code pathologie
Nom de la pathologie
- OMIM:236792 L-2-hydroxyglutaric aciduria
- OMIM:149600 Labia minora, incomplete adhesion of
- OMIM:149730 Lacrimoauriculodentodigital syndrome
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- OMIM:245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID
- OMIM:245550 Lambert syndrome
- ORPHA:1296 Lambert syndrome
- ORPHA:43393 Lambert-Eaton myasthenic syndrome
- ORPHA:313 Lamellar ichthyosis
- OMIM:262500 Laron syndrome
- ORPHA:633 Laron syndrome
- OMIM:150250 Larsen syndrome
- ORPHA:503 Larsen syndrome
- ORPHA:99824 Lassa fever
- ORPHA:556037 Late-onset familial hypoaldosteronism
- ORPHA:199299 Late-onset isolated ACTH deficiency
- ORPHA:79406 Late-onset junctional epidermolysis bullosa
- OMIM:130720 Lateral meningocele syndrome
- ORPHA:2789 Lateral meningocele syndrome
- OMIM:607330 Lathosterolosis
- ORPHA:46059 Lathosterolosis
- OMIM:245800 Laurence-Moon syndrome
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:2378 Laurin-Sandrow syndrome
- ORPHA:650 LCAT deficiency
- ORPHA:330015 Lead poisoning
- OMIM:204000 Leber congenital amaurosis, type I
- OMIM:245900 Lecithin:cholesterol acyltransferase deficiency
- ORPHA:549 Legionnaires disease
- ORPHA:137605 Legius syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:70474 Leigh syndrome with cardiomyopathy
- ORPHA:255249 Leigh syndrome with nephrotic syndrome
- OMIM:150700 Leiomyoma of vulva and esophagus
- OMIM:150699 Leiomyoma, uterine
- OMIM:308940 Leiomyomatosis, diffuse, with alport syndrome
- OMIM:151050 Lenz-Majewski hyperostotic dwarfism
- 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
- ORPHA:509 Leptospirosis
- ORPHA:510 Lesch-Nyhan syndrome
- OMIM:300322 Lesch-Nyhan syndrome
- OMIM:618681 Lessel-Kubisch syndrome
- OMIM:607598 Lethal congenital contracture syndrome 2
- ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome
- ORPHA:254857 Lethal infantile mitochondrial myopathy
- ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:2736 Lethal omphalocele-cleft palate syndrome
- OMIM:246470 Leukemia, acute myelocytic, with polyposis coli and colon cancer
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:169500 Leukodystrophy, adult-onset, autosomal dominant
- OMIM:616683 Leukodystrophy, hypomyelinating, 12
- OMIM:618688 Leukodystrophy, hypomyelinating, 19, transient infantile
- OMIM:619310 Leukodystrophy, hypomyelinating, 21
- 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:617762 Leukodystrophy, progressive, early childhood-onset
- ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- OMIM:613724 Leukoencephalopathy with dystonia and motor neuropathy
- OMIM:603896 Leukoencephalopathy with vanishing white matter
- OMIM:618384 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
- OMIM:618877 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
- OMIM:618878 Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- OMIM:615889 Leukoencephalopathy, progressive, with ovarian failure
- 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
- ORPHA:526 Liddle syndrome
- OMIM:177200 Liddle syndrome 1
- ORPHA:99812 LIG4 syndrome
- OMIM:606593 Lig4 syndrome
- ORPHA:2369 Limb body wall complex
- ORPHA:69085 Limb-mammary syndrome
- ORPHA:46488 Linear IgA dermatosis
- OMIM:309801 Linear skin defects with multiple congenital anomalies 1
- ORPHA:2611 Linear verrucous nevus syndrome
- ORPHA:435660 LIPE-related familial partial lipodystrophy
- OMIM:255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:612526 Lipodystrophy, congenital generalized, type 3
- OMIM: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:606721 Lipodystrophy, familial partial, type 7
- OMIM:608709 Lipodystrophy, partial, acquired, susceptibility to
- OMIM:613913 Lipodystrophy, partial, acquired, with low complement component C3, with or without glomerulonephritis
- OMIM:201710 Lipoid congenital adrenal hyperplasia
- OMIM:611771 Lipoprotein glomerulopathy
- ORPHA:69078 Liposarcoma
- OMIM:616299 Lipoyltransferase 1 deficiency
- OMIM:300067 Lissencephaly, X-linked, 1
- OMIM:300215 Lissencephaly, X-linked, 2
- ORPHA:533 Listeriosis
- OMIM:619991 Liver disease, severe congenital
- OMIM:613070 Liver failure, infantile, transient
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form
- ORPHA:90289 Localized scleroderma
- ORPHA:60030 Loeys-Dietz syndrome
- OMIM:613795 Loeys-Dietz syndrome 3
- OMIM:309000 Lowe syndrome
- ORPHA:2408 Lowe-Kohn-Cohen syndrome
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- OMIM:618612 Lower urinary tract obstruction, congenital
- ORPHA:2409 Lowry-MacLean syndrome
- ORPHA:776 Lujan-Fryns syndrome
- OMIM:309520 Lujan-Fryns syndrome
- ORPHA:319213 Lujo hemorrhagic fever
- ORPHA:83628 LUMBAR syndrome
- OMIM:616831 Luscan-Lumish syndrome
- ORPHA:538 Lymphangioleiomyomatosis
- ORPHA:2035 Lymphatic filariasis
- OMIM:153100 Lymphatic malformation 1
- OMIM:619369 Lymphatic malformation 10
- OMIM:620014 Lymphatic malformation 12
- OMIM:601927 Lymphedema, cardiac septal defects, and characteristic facies
- OMIM:615907 Lymphedema, hereditary, ID
- OMIM:616843 Lymphedema, hereditary, III
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- ORPHA:79128 Lymphoid interstitial pneumonia
- OMIM:247800 Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis
- ORPHA:144 Lynch syndrome
- OMIM:247950 Lysine malabsorption syndrome
- ORPHA:470 Lysinuric protein intolerance
- OMIM:222700 Lysinuric protein intolerance
- ORPHA:275761 Lysosomal acid lipase deficiency
Code pathologie
Nom de la pathologie
- OMIM:247990 Macdermot-Winter syndrome
- OMIM:618286 Macrocephaly, acquired, with impaired intellectual development
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- OMIM:605309 Macrocephaly/autism syndrome
- OMIM:248000 Macrocephaly/megalencephaly syndrome, autosomal recessive
- OMIM:155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:163634 Maffucci syndrome
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- ORPHA:77297 Majeed syndrome
- ORPHA:556 Malakoplakia
- ORPHA:673 Malaria
- ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- ORPHA:529970 Male infertility due to acephalic spermatozoa
- ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation
- OMIM:243060 Male infertility with large-headed, multiflagellar, polyploid spermatozoa
- ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation
- ORPHA:679 Malignant atrophic papulosis
- ORPHA:423 Malignant hyperthermia of anesthesia
- OMIM:145600 Malignant hyperthermia, susceptibility to, 1
- OMIM:248360 Malonyl-CoA decarboxylase deficiency
- OMIM:212112 Malouf syndrome
- OMIM:615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- OMIM:619127 Mandibuloacral dysplasia progeroid syndrome
- OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy
- OMIM:616367 Mandibulofacial dysostosis with alopecia
- ORPHA:306682 Manganese poisoning
- OMIM:248510 Mannosidosis, beta
- OMIM:248600 Maple syrup urine disease
- OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome
- ORPHA:99826 Marburg hemorrhagic fever
- ORPHA:221074 Marchiafava-Bignami disease
- ORPHA:91412 Marcus-Gunn syndrome
- ORPHA:2461 Marden-Walker syndrome
- OMIM:248700 Marden-Walker syndrome
- OMIM:248760 Marfanoid habitus with microcephaly and glomerulonephritis
- OMIM:248800 Marinesco-Sjogren syndrome
- ORPHA:559 Marinesco-Sjögren syndrome
- OMIM:602535 Marshall-Smith syndrome
- OMIM:601346 Martinez-Frias syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:619420 Martsolf syndrome 2
- ORPHA:2216 Maternal hyperthermia-induced birth defects
- ORPHA:2209 Maternal phenylketonuria
- 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:261519 Maternal uniparental disomy of chromosome X
- ORPHA:225 Maternally-inherited diabetes and deafness
- ORPHA:2470 Matthew-Wood syndrome
- OMIM:277000 Mayer-Rokitansky-Kuster-Hauser syndrome
- ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome
- ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2
- ORPHA:562 McCune-Albright syndrome
- ORPHA:2471 McDonough syndrome
- ORPHA:2473 McKusick-Kaufman syndrome
- OMIM:236700 Mckusick-Kaufman syndrome
- ORPHA:3097 Meacham syndrome
- OMIM:608978 Meacham syndrome
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:615397 Meckel syndrome 11
- OMIM:616258 Meckel syndrome 12
- OMIM:617562 Meckel syndrome 13
- OMIM:619879 Meckel syndrome 14
- OMIM:607361 Meckel syndrome 3
- OMIM:614175 Meckel syndrome, type 10
- OMIM:603194 Meckel syndrome, type 2
- OMIM:611134 Meckel syndrome, type 4
- OMIM:611561 Meckel syndrome, type 5
- OMIM:612284 Meckel syndrome, type 6
- OMIM:267010 Meckel syndrome, type 7
- OMIM:613885 Meckel syndrome, type 8
- OMIM:614209 Meckel syndrome, type 9
- OMIM:602199 Medium chain 3-ketoacyl-coa thiolase deficiency
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- OMIM:603860 Medullary cystic kidney disease 2
- ORPHA:1309 Medullary sponge kidney
- OMIM:618719 Megabladder, congenital
- ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
- OMIM:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
- OMIM:619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
- OMIM:619362 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
- OMIM:619365 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
- OMIM:619431 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
- ORPHA:2477 Megalencephaly
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- OMIM:261100 Megaloblastic anemia 1
- ORPHA:85282 MEHMO syndrome
- OMIM:300148 Mehmo syndrome
- OMIM:224690 Meier-Gorlin syndrome 1
- OMIM:613800 Meier-Gorlin syndrome 2
- OMIM:613803 Meier-Gorlin syndrome 3
- OMIM:613804 Meier-Gorlin syndrome 4
- OMIM:613805 Meier-Gorlin syndrome 5
- OMIM:616835 Meier-Gorlin syndrome 6
- OMIM:617063 Meier-Gorlin syndrome 7
- OMIM:617564 Meier-Gorlin syndrome 8
- ORPHA:550 MELAS
- ORPHA:31202 Melioidosis
- ORPHA:2483 Melkersson-Rosenthal syndrome
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- OMIM:305800 Membranoproliferative glomerulonephritis, X-linked
- OMIM:300960 Mend syndrome
- ORPHA:401973 MEND syndrome
- ORPHA:2495 Meningioma
- ORPHA:33475 Meningococcal meningitis
- OMIM:618332 Menke-Hennekam syndrome 1
- ORPHA:565 Menkes disease
- OMIM:616789 Mental retardation and distinctive facial features with or without cardiac defects
- OMIM:249599 Mental retardation syndrome, Belgian type
- OMIM:613670 Mental retardation with language impairment and with or without autistic features
- OMIM:156200 Mental retardation, autosomal dominant 1
- OMIM:616078 Mental retardation, autosomal dominant 29
- OMIM:616362 Mental retardation, autosomal dominant 36
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:617635 Mental retardation, autosomal dominant 47
- OMIM:249630 Mental retardation, buenos Aires type
- OMIM:610156 Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome
- OMIM:300982 Mental retardation, X-linked 103
- OMIM:300997 Mental retardation, X-linked 106
- OMIM:300957 Mental retardation, X-linked 12/35
- OMIM:300062 Mental retardation, X-linked 14
- OMIM:300428 Mental retardation, X-linked 2
- OMIM:300143 Mental retardation, X-linked 21
- OMIM:300850 Mental retardation, X-linked 90
- OMIM:300851 Mental retardation, X-linked 92
- OMIM:300659 Mental retardation, X-linked 93
- OMIM:300912 Mental retardation, X-linked 98
- OMIM:300919 Mental retardation, X-linked 99
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300243 Mental retardation, x-linked syndromic, Christianson type
- OMIM:300260 Mental retardation, x-linked syndromic, Lubs type
- OMIM:309590 Mental retardation, x-linked syndromic, Turner type
- OMIM:300238 Mental retardation, X-linked, syndromic 11
- OMIM:300055 Mental retardation, X-linked, syndromic 13
- OMIM:300886 Mental retardation, X-linked, syndromic 32
- 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:300860 Mental retardation, X-linked, syndromic, Nascimento type
- OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type
- OMIM:300706 Mental retardation, x-linked, syndromic, Turner type
- OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
- OMIM:300419 Mental retardation, X-linked, with or without seizures, arx-related
- OMIM:249650 Mercaptolactate-Cysteine disulfiduria
- ORPHA:330021 Mercury poisoning
- OMIM:249660 Mesangial sclerosis, diffuse renal, with ocular abnormalities
- OMIM:249670 Mesoaxial hexadactyly and cardiac malformation
- OMIM:600383 Mesomelia-Synostoses syndrome
- ORPHA:2496 Mesomelia-synostoses syndrome
- OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- OMIM:250100 Metachromatic leukodystrophy
- ORPHA:512 Metachromatic leukodystrophy
- OMIM:249900 Metachromatic leukodystrophy due to saposin B deficiency
- ORPHA:309271 Metachromatic leukodystrophy, adult form
- OMIM:156310 Metachromatic leukodystrophy, adult-onset, with normal arylsulfatasea
- ORPHA:309263 Metachromatic leukodystrophy, juvenile form
- ORPHA:309256 Metachromatic leukodystrophy, late infantile form
- OMIM:156400 Metaphyseal chondrodysplasia, Jansen type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type
- OMIM:250790 Methemoglobinemia and ambiguous genitalia
- ORPHA:1923 Methimazole embryofetopathy
- OMIM:250900 Methionine malabsorption syndrome
- ORPHA:2169 Methylcobalamin deficiency type cblE
- OMIM:614105 Methylmalonate semialdehyde dehydrogenase deficiency
- OMIM:309541 Methylmalonic acidemia and homocysteinemia, Cblx type
- ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type
- OMIM:277410 Methylmalonic aciduria and homocystinuria, Cbld type
- OMIM:277380 Methylmalonic aciduria and homocystinuria, Cblf type
- OMIM:614857 Methylmalonic aciduria and homocystinuria, Cblj type
- OMIM:251000 Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
- OMIM:251100 Methylmalonic aciduria, Cbla type
- OMIM:613646 Methylmalonic aciduria, transient, due to transcobalamin receptor defect
- OMIM:251110 Methylmalonic aciduria, vitamin B12-responsive, cblB type
- OMIM:251120 Methylmalonyl-Coa epimerase deficiency
- ORPHA:2510 Micro syndrome
- ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency
- ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II
- ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III
- OMIM:210710 Microcephalic osteodysplastic primordial dwarfism, type I
- OMIM:210720 Microcephalic osteodysplastic primordial dwarfism, type II
- OMIM:210730 Microcephalic osteodysplastic primordial dwarfism, type III
- ORPHA:319675 Microcephalic primordial dwarfism, Dauber type
- ORPHA:2617 Microcephalic primordial dwarfism, Montreal type
- OMIM:210700 Microcephalic primordial dwarfism, Montreal type
- OMIM:616681 Microcephaly 16, primary, autosomal recessive
- OMIM:617090 Microcephaly 17, primary, autosomal recessive
- OMIM:604317 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
- OMIM:617914 Microcephaly 20, primary, autosomal recessive
- OMIM:619179 Microcephaly 26, primary, autosomal dominant
- OMIM:619180 Microcephaly 27, primary, autosomal dominant
- OMIM:620047 Microcephaly 29, primary, autosomal recessive
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:601355 Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome
- OMIM:618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
- OMIM:616033 Microcephaly, short stature, and impaired glucose metabolism 1
- OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2
- OMIM:614261 Microcephaly-Capillary malformation syndrome
- ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome
- ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome
- ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
- ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
- ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome
- ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type
- ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
- ORPHA:280200 Microform holoprosencephaly
- ORPHA:2538 Microgastria-limb reduction defect syndrome
- OMIM:156810 Microgastria-Limb reduction defects association
- ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- ORPHA:50810 Microlissencephaly-micromelia syndrome
- ORPHA:139471 Microphthalmia with brain and digit anomalies
- ORPHA:1106 Microphthalmia with limb anomalies
- ORPHA:2556 Microphthalmia with linear skin defects syndrome
- OMIM:613094 Microphthalmia, isolated 4
- ORPHA:568 Microphthalmia, Lenz type
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:615524 Microphthalmia, syndromic 12
- OMIM:300166 Microphthalmia, syndromic 2
- OMIM:206900 Microphthalmia, syndromic 3
- OMIM:610125 Microphthalmia, syndromic 5
- OMIM:607932 Microphthalmia, syndromic 6
- OMIM:601349 Microphthalmia, syndromic 8
- OMIM:601186 Microphthalmia, syndromic 9
- ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome
- OMIM:615877 Microphthalmia/coloboma and skeletal dysplasia syndrome
- ORPHA:727 Microscopic polyangiitis
- ORPHA:2552 Microsporidiosis
- ORPHA:2290 Microvillus inclusion disease
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:601016 Midline malformations, multiple, with limb abnormalities and hypopituitarism
- ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:531 Miller-Dieker syndrome
- ORPHA:79452 Milroy disease
- OMIM:617053 Mirage syndrome
- ORPHA:521219 Mirizzi syndrome
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18
- OMIM:611126 Mitochondrial complex I deficiency, nuclear type 20
- OMIM:618247 Mitochondrial complex I deficiency, nuclear type 26
- OMIM:618248 Mitochondrial complex I deficiency, nuclear type 27
- OMIM:618250 Mitochondrial complex I deficiency, nuclear type 29
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:619003 Mitochondrial complex I deficiency, nuclear type 35
- OMIM:619272 Mitochondrial complex I deficiency, nuclear type 37
- OMIM:620135 Mitochondrial complex I deficiency, nuclear type 39
- OMIM:619167 Mitochondrial complex II deficiency, nuclear type 3
- OMIM:619224 Mitochondrial complex II deficiency, nuclear type 4
- OMIM:124000 Mitochondrial complex III deficiency, nuclear type 1
- OMIM:615453 Mitochondrial complex III deficiency, nuclear type 6
- OMIM:615824 Mitochondrial complex III deficiency, nuclear type 7
- OMIM:220110 Mitochondrial complex IV deficiency, nuclear type 1
- OMIM:619053 Mitochondrial complex IV deficiency, nuclear type 10
- OMIM:619055 Mitochondrial complex IV deficiency, nuclear type 12
- OMIM:619063 Mitochondrial complex IV deficiency, nuclear type 19
- OMIM:619355 Mitochondrial complex IV deficiency, nuclear type 22
- OMIM:619048 Mitochondrial complex IV deficiency, nuclear type 4
- OMIM:618120 Mitochondrial complex V (ATP synthase) deficiency nuclear type 5
- OMIM:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- OMIM:614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- OMIM:614053 Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:617184 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:619425 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)
- OMIM:618811 Mitochondrial DNA depletion syndrome 18
- OMIM:618972 Mitochondrial DNA depletion syndrome 19
- OMIM:609560 Mitochondrial DNA depletion syndrome 2 (myopathic type)
- OMIM:619780 Mitochondrial DNA depletion syndrome 20 (MNGIE type)
- OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- OMIM:203700 Mitochondrial DNA depletion syndrome 4A (Alpers type)
- OMIM:612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
- OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- OMIM:612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- OMIM:245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
- ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome
- OMIM:500013 Mitochondrial form of axonal Charcot-Marie-Tooth disease-1
- ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration
- ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- OMIM:614741 Mitochondrial pyruvate carrier deficiency
- OMIM:609015 Mitochondrial trifunctional protein deficiency
- ORPHA:809 Mixed connective tissue disease
- ORPHA:90036 Mixed-type autoimmune hemolytic anemia
- ORPHA:3434 MMEP syndrome
- ORPHA:552 MODY
- OMIM:157900 Moebius syndrome
- ORPHA:570 Moebius syndrome
- ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- ORPHA:79330 MOGS-CDG
- OMIM:252150 Molybdenum cofactor deficiency, complementation group A
- OMIM:252160 Molybdenum cofactor deficiency, complementation group B
- OMIM:615501 Molybdenum cofactor deficiency, complementation group C
- OMIM:616095 Monocarboxylate transporter 1 deficiency
- ORPHA:96168 Monosomy 13q34
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:261112 Monosomy 9p
- ORPHA:77301 Monosomy 9q22.3
- ORPHA:99226 Monosomy X
- OMIM:615703 Morbid obesity and spermatogenic failure
- ORPHA:75858 MORM syndrome
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1692 Mosaic trisomy 1
- ORPHA:1703 Mosaic trisomy 14
- ORPHA:1708 Mosaic trisomy 16
- ORPHA:1724 Mosaic trisomy 20
- ORPHA:96061 Mosaic trisomy 8
- ORPHA:99776 Mosaic trisomy 9
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:257300 Mosaic variegated aneuploidy syndrome 1
- OMIM:617598 Mosaic variegated aneuploidy syndrome 3
- ORPHA:2152 Mowat-Wilson syndrome
- OMIM:235730 Mowat-Wilson syndrome
- ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation
- ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22
- ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- OMIM:300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism
- OMIM:615750 Moyamoya disease 6 with achalasia
- ORPHA:2574 Moynahan syndrome
- ORPHA:79323 MPDU1-CDG
- ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis
- ORPHA:100024 Mu-heavy chain disease
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:618287 Mucocutaneous ulceration, chronic
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- OMIM:252500 Mucolipidosis II alpha/beta
- OMIM:252600 Mucolipidosis III alpha/beta
- OMIM:252605 Mucolipidosis III gamma
- OMIM:252700 Mucopolysaccharidoses, unclassified types
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- ORPHA:582 Mucopolysaccharidosis type 4
- ORPHA:583 Mucopolysaccharidosis type 6
- ORPHA:584 Mucopolysaccharidosis type 7
- OMIM:252900 Mucopolysaccharidosis type IIIA
- OMIM:252920 Mucopolysaccharidosis type IIIB
- OMIM:252930 Mucopolysaccharidosis type IIIC
- OMIM:253010 Mucopolysaccharidosis type IVB (Morquio)
- OMIM:253220 Mucopolysaccharidosis VII
- OMIM:252940 Mucopolysaccharidosis, type IIID
- OMIM:253200 Mucopolysaccharidosis, type VI
- OMIM:619698 Mucopolysaccharidosis, type X
- ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- OMIM:617303 Mucopolysaccharidosis-Plus syndrome
- ORPHA:587 Muir-Torre syndrome
- OMIM:158320 Muir-Torre syndrome
- OMIM:617352 Mulchandani-Bhoj-Conlin syndrome
- OMIM:253250 Mulibrey nanism
- OMIM:158330 Mullerian aplasia and hyperandrogenism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- OMIM:601076 Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies
- ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy
- OMIM:166300 Multicentric carpotarsal osteolysis syndrome
- ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum
- OMIM:253320 Multicore myopathy with mental retardation, short stature, and hypogonadotropichypogonadism
- ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome
- OMIM:236500 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- OMIM:231680 Multiple acyl-CoA-dehydrogenase deficiency
- ORPHA:2505 Multiple benign circumferential skin creases on limbs
- ORPHA:148 Multiple carboxylase deficiency
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- OMIM:614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1
- OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- 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:605711 Multiple mitochondrial dysfunctions syndrome 1
- ORPHA:29073 Multiple myeloma
- ORPHA:321 Multiple osteochondromas
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- OMIM:126200 Multiple sclerosis, susceptibility to
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- ORPHA:102 Multiple system atrophy
- OMIM:146500 Multiple system atrophy 1, susceptibility to
- ORPHA:227510 Multiple system atrophy, cerebellar type
- ORPHA:98933 Multiple system atrophy, parkinsonian type
- OMIM:194071 Multiple tumor-associated chromosome region 1
- OMIM:613834 Multisystemic smooth muscle dysfunction syndrome
- OMIM:611376 Mungan syndrome
- OMIM:300559 Muscle glycogenosis, X-linked
- OMIM:309930 Muscular dystrophy, Cardiac type
- OMIM:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:254000 Muscular dystrophy, congenital, with infantile cataract and hypogonadism
- OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
- OMIM:615287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
- OMIM:615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10
- OMIM:613156 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2
- OMIM:607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
- ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- ORPHA:589 Myasthenia gravis
- OMIM:616224 Myasthenic syndrome, congenital, 22
- ORPHA:268249 Mycophenolate mofetil embryopathy
- ORPHA:182050 MYH9-related disease
- OMIM:139210 Myhre syndrome
- ORPHA:2588 Myhre syndrome
- ORPHA:247768 Müllerian aplasia and hyperandrogenism
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome
- OMIM:268200 Myoglobinuria, acute recurrent, autosomal recessive
- OMIM:160010 Myoglobinuria, autosomal dominant
- OMIM:550500 Myoglobinuria, recurrent
- OMIM:254960 Myopathy due to malate-aspartate shuttle defect
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:620138 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:618823 Myopathy, congenital proximal, with minicore lesions
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:618578 Myopathy, congenital, progressive, with scoliosis
- OMIM:618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- OMIM:618822 Myopathy, congenital, with respiratory insufficiency and bone fractures
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- OMIM:617114 Myopathy, myofibrillar, 7
- OMIM:300219 Myotubular myopathy with abnormal genital development
Code pathologie
Nom de la pathologie
- ORPHA:2608 N syndrome
- OMIM:310465 N syndrome
- OMIM:618828 Nabais Sa-de Vries syndrome, type 1
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- OMIM:608156 Nablus mask-like facial syndrome
- ORPHA:245 Nager syndrome
- ORPHA:2614 Nail-patella syndrome
- OMIM:161200 Nail-Patella syndrome
- ORPHA:2613 Nail-patella-like renal disease
- OMIM:255990 Nathalie syndrome
- ORPHA:168572 Native American myopathy
- ORPHA:199244 Nelson syndrome
- ORPHA:446 Neonatal hemochromatosis
- ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency
- ORPHA:284979 Neonatal Marfan syndrome
- ORPHA:417 Neonatal severe primary hyperparathyroidism
- ORPHA:654 Nephroblastoma
- ORPHA:223 Nephrogenic diabetes insipidus
- OMIM:300539 Nephrogenic syndrome of inappropriate antidiuresis
- OMIM:167030 Nephrolithiasis, calcium oxalate
- OMIM:310468 Nephrolithiasis, type I
- OMIM:612286 Nephrolithiasis/osteoporosis, hypophosphatemic, 1
- OMIM:612287 Nephrolithiasis/osteoporosis, hypophosphatemic, 2
- ORPHA:655 Nephronophthisis
- OMIM:256100 Nephronophthisis 1
- OMIM:613550 Nephronophthisis 11
- OMIM:613820 Nephronophthisis 12
- OMIM:614377 Nephronophthisis 13
- OMIM:614844 Nephronophthisis 14
- OMIM:614845 Nephronophthisis 15
- OMIM:615382 Nephronophthisis 16
- OMIM:615862 Nephronophthisis 18
- OMIM:616217 Nephronophthisis 19
- OMIM:602088 Nephronophthisis 2
- OMIM:617271 Nephronophthisis 20
- OMIM:604387 Nephronophthisis 3
- OMIM:606966 Nephronophthisis 4
- OMIM:611498 Nephronophthisis 7
- OMIM:613824 Nephronophthisis 9
- OMIM:613159 Nephronophthisis-Like nephropathy 1
- OMIM:619468 Nephronophthisis-like nephropathy 2
- OMIM:609057 Nephropathy with pretibial epidermolysis bullosa and deafness
- OMIM:602114 Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease
- ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome
- OMIM:256150 NEPHROSIALIDOSIS
- OMIM:256200 Nephrosis with deafness and urinary tract and digital malformations
- ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome
- OMIM:256300 Nephrotic syndrome, type 1
- OMIM:616730 Nephrotic syndrome, type 11
- OMIM:616892 Nephrotic syndrome, type 12
- OMIM:616893 Nephrotic syndrome, type 13
- OMIM:617575 Nephrotic syndrome, type 14
- OMIM:617609 Nephrotic syndrome, type 15
- OMIM:617783 Nephrotic syndrome, type 16
- OMIM:618176 Nephrotic syndrome, type 17
- OMIM:618177 Nephrotic syndrome, type 18
- OMIM:618178 Nephrotic syndrome, type 19
- OMIM:600995 Nephrotic syndrome, type 2
- OMIM:301028 Nephrotic syndrome, type 20
- OMIM:618594 Nephrotic syndrome, type 21
- OMIM:619155 Nephrotic syndrome, type 22
- OMIM:619201 Nephrotic syndrome, type 23
- OMIM:619263 Nephrotic syndrome, type 24
- OMIM:620049 Nephrotic syndrome, type 26
- OMIM:610725 Nephrotic syndrome, type 3
- OMIM:256370 Nephrotic syndrome, type 4
- OMIM:614199 Nephrotic syndrome, type 5, with or without ocular abnormalities
- OMIM:614196 Nephrotic syndrome, type 6
- OMIM:615008 Nephrotic syndrome, type 7
- OMIM:615244 Nephrotic syndrome, type 8
- OMIM:615573 Nephrotic syndrome, type 9
- ORPHA:634 Netherton syndrome
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- OMIM:182940 Neural tube defects, susceptibility to
- OMIM:256550 Neuraminidase deficiency
- ORPHA:635 Neuroblastoma
- OMIM:256700 Neuroblastoma, susceptibility to
- OMIM:619869 Neurocardiofaciodigital syndrome
- ORPHA:2481 Neurocutaneous melanocytosis
- ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- OMIM:619259 Neurodegeneration with ataxia and late-onset optic atrophy
- OMIM:617145 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- OMIM:234200 Neurodegeneration with brain iron accumulation 1
- OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
- OMIM:618868 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
- OMIM:620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:618707 Neurodevelopmental disorder with absent language and variable seizures
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:618571 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
- OMIM:619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies
- OMIM:619244 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- OMIM:618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
- OMIM:620083 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- OMIM:618659 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
- OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
- OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
- OMIM:620094 Neurodevelopmental disorder with eye movement abnormalities and ataxia
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
- OMIM:618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- OMIM:619908 Neurodevelopmental disorder with language delay and seizure
- OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- OMIM:620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- OMIM:619685 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
- OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- OMIM:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:619286 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
- OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
- OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain 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
- OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome
- OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- ORPHA:100079 Neuroendocrine neoplasm of appendix
- ORPHA:2673 Neurofaciodigitorenal syndrome
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:94093 Neuroleptic malignant syndrome
- OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- OMIM:618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures
- ORPHA:71211 Neuromyelitis optica spectrum disorder
- OMIM:618652 Neurooculocardiogenitourinary syndrome
- OMIM:608088 Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux
- OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- OMIM:615285 Neutropenia, severe congenital, 5, autosomal recessive
- OMIM:619813 Neutropenia, severe congenital, 9, autosomal dominant
- OMIM:601358 Nicolaides-Baraitser syndrome
- ORPHA:3051 Nicolaides-Baraitser syndrome
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- OMIM:163700 Nipples, supernumerary
- OMIM:600092 Nivelon-Nivelon-Mabille syndrome
- OMIM:618872 Nizon-Isidor syndrome
- ORPHA:217253 NMDA receptor encephalitis
- OMIM:163850 Noduli cutanei, multiple, with urinary tract abnormalities
- ORPHA:90695 Non-acquired panhypopituitarism
- ORPHA:1695 Non-distal trisomy 10q
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:91349 Non-functioning pituitary adenoma
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:557 Non-syndromic anorectal malformation
- ORPHA:95706 Non-syndromic posterior hypospadias
- OMIM:158250 NONDISJUNCTION
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:616564 Noonan syndrome 10
- OMIM:619087 Noonan syndrome 13
- OMIM:619745 Noonan syndrome 14
- OMIM:605275 Noonan syndrome 2
- OMIM:609942 Noonan syndrome 3
- OMIM:610733 Noonan syndrome 4
- OMIM:611553 Noonan syndrome 5
- OMIM:613224 Noonan syndrome 6
- OMIM:615355 Noonan syndrome 8
- OMIM:616559 Noonan syndrome 9
- ORPHA:500 Noonan syndrome with multiple lentigines
- ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair
- OMIM:617506 Noonan syndrome-like disorder with loose anagen hair 2
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
- ORPHA:649 Norrie disease
- ORPHA:3032 NPHP3-related Meckel-like syndrome
- ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis
Code pathologie
Nom de la pathologie
- OMIM:618512 O'donnell-Luria-Rodan syndrome
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- ORPHA:198 Occipital horn syndrome
- OMIM:304150 Occipital horn syndrome
- ORPHA:2704 Ochoa syndrome
- ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
- OMIM:257550 Ocular motor apraxia
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type
- OMIM:164180 Oculocerebrocutaneous syndrome
- ORPHA:1647 Oculocerebrocutaneous syndrome
- ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- OMIM:164200 Oculodentodigital dysplasia
- ORPHA:2710 Oculodentodigital dysplasia
- OMIM:600268 Oculoectodermal syndrome
- OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome
- OMIM:257970 Oculorenocerebellar syndrome
- OMIM:618440 Oculoskeletodental syndrome
- ORPHA:557003 Oculoskeletodental syndrome
- OMIM:258040 OEIS complex
- ORPHA:276432 Ogden syndrome
- OMIM:300855 Ogden syndrome
- OMIM:249620 Ohdo syndrome
- OMIM:603736 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- OMIM:300895 Ohdo syndrome, X-linked
- ORPHA:2729 Okamoto syndrome
- ORPHA:2260 Oligomeganephronia
- OMIM:275400 Oliver-Mcfarlane syndrome
- ORPHA:39041 Omenn syndrome
- OMIM:164745 OMODYSPLASIA
- OMIM:258315 Omodysplasia 1
- OMIM:258320 Omphalocele-Cleft palate syndrome, lethal
- OMIM:553000 Oncocytoma
- ORPHA:352540 Oncogenic osteomalacia
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- OMIM:615774 Oocyte maturation defect
- OMIM:619176 Oocyte maturation defect 10
- OMIM:619643 Oocyte maturation defect 11
- OMIM:619697 Oocyte maturation defect 12
- OMIM:616780 Oocyte maturation defect 2
- OMIM:617712 Oocyte maturation defect 3
- OMIM:617743 Oocyte maturation defect 4
- OMIM:617996 Oocyte maturation defect 5
- OMIM:618353 Oocyte maturation defect 6
- OMIM:618550 Oocyte maturation defect 7
- OMIM:619009 Oocyte maturation defect 8
- OMIM:619011 Oocyte maturation defect 9
- ORPHA:2745 Opitz GBBB syndrome
- OMIM:300000 Opitz GBBB syndrome
- OMIM:305450 Opitz-Kaveggia syndrome
- OMIM:258480 Opsismodysplasia
- ORPHA:1183 Opsoclonus-myoclonus syndrome
- ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:664 Ornithine transcarbamylase deficiency
- OMIM:311250 Ornithine transcarbamylase deficiency, hyperammonemia due to
- OMIM:616788 Orofacial cleft 15
- OMIM:311200 Orofaciodigital syndrome I
- ORPHA:2750 Orofaciodigital syndrome type 1
- ORPHA:434179 Orofaciodigital syndrome type 14
- ORPHA:2751 Orofaciodigital syndrome type 2
- ORPHA:2752 Orofaciodigital syndrome type 3
- ORPHA:2753 Orofaciodigital syndrome type 4
- ORPHA:2919 Orofaciodigital syndrome type 5
- ORPHA:2754 Orofaciodigital syndrome type 6
- OMIM:174300 Orofaciodigital syndrome V
- OMIM:277170 Orofaciodigital syndrome VI
- OMIM:615948 Orofaciodigital syndrome XIV
- OMIM:617127 Orofaciodigital syndrome XV
- OMIM:617926 Orofaciodigital syndrome XVII
- OMIM:617927 Orofaciodigital syndrome XVIII
- OMIM:258900 Orotic aciduria
- OMIM:223360 Orthostatic hypotension 1, due to DBH deficiency
- OMIM:618182 Orthostatic hypotension 2
- OMIM:604715 Orthostatic intolerance
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:184260 Osteochondrodysplasia
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- ORPHA:666 Osteogenesis imperfecta
- OMIM:610682 Osteogenesis imperfecta, type VII
- OMIM:613848 Osteogenesis imperfecta, type X
- OMIM:166250 Osteoglophonic dysplasia
- ORPHA:2645 Osteoglosphonic dysplasia
- OMIM:166450 OSTEOMESOPYKNOSIS
- OMIM:619377 Osteootohepatoenteric syndrome
- OMIM:300373 Osteopathia striata with cranial sclerosis
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:259730 Osteopetrosis, autosomal recessive 3
- OMIM:259750 Osteoporosis, juvenile
- OMIM:609993 Osteosclerosis - ichthyosis - premature ovarian failure
- ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- ORPHA:2792 Otofaciocervical syndrome
- OMIM:615560 Otofaciocervical syndrome 2
- OMIM:601976 Otofacioosseous-Gonadal syndrome
- OMIM:259780 Otoonychoperoneal syndrome
- ORPHA:90652 Otopalatodigital syndrome type 2
- OMIM:304120 Otopalatodigital syndrome, type II
- OMIM:167000 Ovarian cancer
- 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:617690 Ovarian dysgenesis 5
- OMIM:618078 Ovarian dysgenesis 6
- OMIM:618117 Ovarian dysgenesis 7
- OMIM:618187 Ovarian dysgenesis 8
- OMIM:619665 Ovarian dysgenesis 9
- ORPHA:314473 Ovarian fibroma
- OMIM:166970 Ovarian fibromata
- ORPHA:314478 Ovarian fibrothecoma
- OMIM:608115 Ovarian hyperstimulation syndrome
- ORPHA:64739 Ovarian hyperstimulation syndrome
- ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome
- ORPHA:206572 Overlap myositis
- ORPHA:31 Oxoglutaric aciduria
Code pathologie
Nom de la pathologie
- OMIM:301025 Paganini-Miozzo syndrome
- OMIM:602080 Paget disease of bone 2, early-onset
- OMIM:239000 Paget disease of bone 5, juvenile-onset
- OMIM:616833 Paget disease of bone 6
- ORPHA:991 PAGOD syndrome
- ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:601803 Pallister-Killian syndrome
- OMIM:610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal
- ORPHA:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- OMIM:600001 Pancreatic agenesis and congenital heart defects
- OMIM:260350 Pancreatic cancer
- ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- ORPHA:66624 PANDAS
- ORPHA:95513 Panhypophysitis
- OMIM:120330 Papillorenal syndrome
- OMIM:115310 Paragangliomas 4
- ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome
- ORPHA:143 Parathyroid carcinoma
- ORPHA:90307 Parkes Weber syndrome
- OMIM:168601 Parkinson disease 1, autosomal dominant
- OMIM:612953 Parkinson disease 14, autosomal recessive
- OMIM:605909 Parkinson disease 6, autosomal recessive early-onset
- OMIM:168600 Parkinson disease, late-onset
- ORPHA:171695 Parkinsonian-pyramidal syndrome
- OMIM:618049 Parkinsonism-Dystonia, infantile, 2
- ORPHA:90035 Paroxysmal cold hemoglobinuria
- OMIM:300818 Paroxysmal nocturnal hemoglobinuria
- ORPHA:447 Paroxysmal nocturnal hemoglobinuria
- OMIM:615399 Paroxysmal nocturnal hemoglobinuria 2
- ORPHA:90797 Partial androgen insensitivity syndrome
- ORPHA:1646 Partial chromosome Y deletion
- ORPHA:261911 Partial deletion of the short arm of chromosome 7
- ORPHA:251004 Paternal uniparental disomy of chromosome 1
- ORPHA:96190 Paternal uniparental disomy of chromosome 5
- ORPHA:96191 Paternal uniparental disomy of chromosome 6
- ORPHA:261524 Paternal uniparental disomy of chromosome X
- ORPHA:93126 Pauci-immune glomerulonephritis
- ORPHA:439822 PDE4D haploinsufficiency syndrome
- OMIM:557000 Pearson marrow-pancreas syndrome
- ORPHA:699 Pearson syndrome
- ORPHA:93552 Pediatric systemic lupus erythematosus
- ORPHA:702 Pelizaeus-Merzbacher disease
- OMIM:312080 Pelizaeus-Merzbacher disease
- ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers
- OMIM:260650 Pellagra-Like syndrome
- OMIM:169545 Pelvic lipomatosis with crossed renal ectopia
- ORPHA:2839 Pelvis-shoulder dysplasia
- ORPHA:705 Pendred syndrome
- ORPHA:49 Penile agenesis
- ORPHA:2842 Penoscrotal transposition
- ORPHA:1335 Pentalogy of Cantrell
- ORPHA:2843 Pentosuria
- OMIM:260800 PENTOSURIA
- ORPHA:65250 Perineural cyst
- OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
- ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- OMIM:618124 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- ORPHA:168816 Peritoneal cystic mesothelioma
- OMIM:617201 Periventricular nodular heterotopia 7
- OMIM:267000 Perlman syndrome
- ORPHA:2849 Perlman syndrome
- OMIM:617370 Peroxisome biogenesis disorder 10B
- OMIM:614883 Peroxisome biogenesis disorder 11A (Zellweger)
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger)
- OMIM:614920 Peroxisome biogenesis disorder 14B
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:601539 Peroxisome biogenesis disorder 1B
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:614859 Peroxisome biogenesis disorder 3A (Zellweger)
- OMIM:614862 Peroxisome biogenesis disorder 4A (Zellweger)
- OMIM:614863 Peroxisome biogenesis disorder 4B
- OMIM:614866 Peroxisome biogenesis disorder 5A (Zellweger)
- OMIM:614870 Peroxisome biogenesis disorder 6A (Zellweger)
- OMIM:614871 Peroxisome biogenesis disorder 6B
- OMIM:233400 Perrault syndrome 1
- OMIM:614926 Perrault syndrome 2
- OMIM:614129 Perrault syndrome 3
- OMIM:615300 Perrault syndrome 4
- OMIM:616138 Perrault syndrome 5
- OMIM:617565 Perrault syndrome 6
- OMIM:261550 Persistent mullerian duct syndrome, types I and II
- ORPHA:2856 Persistent Müllerian duct syndrome
- ORPHA:709 Peters plus syndrome
- OMIM:261540 Peters-Plus syndrome
- ORPHA:2869 Peutz-Jeghers syndrome
- OMIM:175200 Peutz-Jeghers syndrome
- OMIM:171000 Peyronie disease
- ORPHA:93260 Pfeiffer syndrome type 3
- ORPHA:443811 PGM3-CDG
- ORPHA:2874 Phakomatosis pigmentokeratotica
- OMIM:606232 Phelan-Mcdermid syndrome
- ORPHA:1919 Phenobarbital embryopathy
- OMIM:261600 Phenylketonuria
- ORPHA:716 Phenylketonuria
- OMIM:171300 PHEOCHROMOCYTOMA
- OMIM:171420 Pheochromocytoma-Islet cell tumor syndrome
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- ORPHA:2879 Phocomelia, Schinzel type
- OMIM:261650 Phosphoenolpyruvate carboxykinase 2, mitochondrial
- OMIM:261680 Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- OMIM:601815 Phosphoglycerate dehydrogenase deficiency
- OMIM:300653 Phosphoglycerate kinase 1 deficiency
- OMIM:261670 Phosphoglycerate mutase, muscle, deficiency of
- OMIM:615011 Phosphohydroxylysinuria
- OMIM:619859 Phosphoribosylaminoimidazole carboxylase deficiency
- ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:300661 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:172500 Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebraldysfunction
- ORPHA:487825 Pierpont syndrome
- OMIM:602342 Pierpont syndrome
- OMIM:609049 Pierson syndrome
- OMIM:301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked
- OMIM:610489 Pigmented nodular adrenocortical disease, primary, 1
- OMIM:610475 Pigmented nodular adrenocortical disease, primary, 2
- OMIM:262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:610954 Pitt-Hopkins syndrome
- ORPHA:251623 Pituicytoma
- OMIM:219090 Pituitary adenoma 4, ACTH-secreting, somatic
- OMIM:102200 Pituitary adenoma, growth hormone-secreting, 1
- ORPHA:95613 Pituitary apoplexy
- 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
- ORPHA:99725 Pituitary gigantism
- OMIM:262600 Pituitary hormone deficiency, combined, 2
- ORPHA:95496 Pituitary stalk interruption syndrome
- ORPHA:99928 Placental site trophoblastic tumor
- OMIM:613329 Plasminogen activator inhibitor-1 deficiency
- OMIM:217090 Plasminogen deficiency, type I
- ORPHA:280356 PLIN1-related familial partial lipodystrophy
- ORPHA:79318 PMM2-CDG
- ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome
- ORPHA:2905 POEMS syndrome
- ORPHA:2911 Poland syndrome
- ORPHA:767 Polyarteritis nodosa
- OMIM:613095 Polycystic kidney disease 2
- OMIM:600666 Polycystic kidney disease 3
- OMIM:263200 Polycystic kidney disease 4 with or without polycystic liver disease
- OMIM:617610 Polycystic kidney disease 5
- OMIM:618061 Polycystic kidney disease 6 with or without polycystic liver disease
- OMIM:620056 Polycystic kidney disease 7
- OMIM:600273 Polycystic kidney disease, infantile severe, with tuberous sclerosis
- OMIM:263100 Polycystic kidney, cataract, and congenital blindness
- OMIM:173900 Polycystic kidneys
- OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- OMIM:174050 Polycystic liver disease 1 with or without kidney cysts
- OMIM:617874 Polycystic liver disease 3 with or without kidney cysts
- OMIM:617875 Polycystic liver disease 4 with or without kidney cysts
- OMIM:184700 Polycystic ovary syndrome 1
- ORPHA:2917 Polydactyly-myopia syndrome
- ORPHA:180229 Polyembryoma
- ORPHA:453533 Polyendocrine-polyneuropathy syndrome
- OMIM:616113 Polyendocrine-Polyneuropathy syndrome
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:263570 Polyglucosan body neuropathy, adult form
- OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy
- ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- ORPHA:447877 Polymerase proofreading-related adenomatous polyposis
- OMIM:616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
- ORPHA:732 Polymyositis
- ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- OMIM:263630 Polysyndactyly with cardiac malformation
- ORPHA:284339 Pontocerebellar hypoplasia type 7
- OMIM:618810 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
- OMIM:615803 Pontocerebellar hypoplasia, type 10
- OMIM:619527 Pontocerebellar hypoplasia, type 16
- OMIM:614969 Pontocerebellar hypoplasia, type 7
- OMIM:119500 Popliteal pterygium syndrome
- OMIM:263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1
- ORPHA:738 Porphyria
- ORPHA:101330 Porphyria cutanea tarda
- OMIM:176100 Porphyria cutanea tarda
- OMIM:176090 Porphyria cutanea tarda, type I
- ORPHA:100924 Porphyria due to ALA dehydratase deficiency
- ORPHA:79473 Porphyria variegata
- OMIM:176200 Porphyria variegata
- OMIM:612740 Porphyria, acute hepatic
- OMIM:176000 Porphyria, acute intermittent
- OMIM:263700 Porphyria, congenital erythropoietic
- ORPHA:95619 Post-traumatic pituitary deficiency
- OMIM:263750 Postaxial acrofacial dysostosis
- ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome
- ORPHA:268810 Posterior meningocele
- ORPHA:93110 Posterior urethral valve
- ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- ORPHA:48435 Postinfectious vasculitis
- OMIM:610883 Potocki-Lupski syndrome
- OMIM:601224 Potocki-Shaffer syndrome
- ORPHA:52022 Potocki-Shaffer syndrome
- ORPHA:79083 PPARG-related familial partial lipodystrophy
- OMIM:264010 Prader-Willi habitus, osteopenia, and camptodactyly
- 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:176305 Preaxial deficiency, postaxial polydactyly, and hypospadias
- OMIM:176410 Precocious puberty, male
- ORPHA:275555 Preeclampsia
- OMIM:189800 Preeclampsia/eclampsia 1
- OMIM:616814 Preimplantation embryonic lethality 1
- OMIM:617234 Preimplantation embryonic lethality 2
- OMIM:612885 Premature ovarian failure 10
- OMIM:616946 Premature ovarian failure 11
- OMIM:616947 Premature ovarian failure 12
- OMIM:617442 Premature ovarian failure 13
- OMIM:618014 Premature ovarian failure 14
- OMIM:618096 Premature ovarian failure 15
- OMIM:618723 Premature ovarian failure 16
- OMIM:619146 Premature ovarian failure 17
- OMIM:619203 Premature ovarian failure 18
- OMIM:619245 Premature ovarian failure 19
- OMIM:619938 Premature ovarian failure 20
- OMIM:300511 Premature ovarian failure 2A
- OMIM:300604 Premature ovarian failure 2B
- OMIM:608996 Premature ovarian failure 3
- OMIM:611548 Premature ovarian failure 5
- 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:176620 Priapism, familial idiopathic
- OMIM:309610 Prieto syndrome
- OMIM:615474 Primary aldosteronism, seizures, and neurologic abnormalities
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:3337 Primary Fanconi renotubular syndrome
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- ORPHA:416 Primary hyperoxaluria
- ORPHA:93598 Primary hyperoxaluria type 1
- ORPHA:93599 Primary hyperoxaluria type 2
- ORPHA:93600 Primary hyperoxaluria type 3
- ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- ORPHA:90970 Primary lipodystrophy
- ORPHA:54370 Primary membranoproliferative glomerulonephritis
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- ORPHA:75567 Primary progressive freezing gait
- ORPHA:2257 Primary pulmonary hypoplasia
- OMIM:176630 Primary release disorder of platelets
- 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:141099 Proboscis lateralis
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- OMIM:264080 Progesterone resistance
- ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency
- ORPHA: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
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- OMIM:264120 Prolactin deficiency with obesity and enlarged testes
- OMIM:264110 Prolactin deficiency, isolated
- ORPHA:2965 Prolactinoma
- OMIM:170100 Prolidase deficiency
- ORPHA:742 Prolidase deficiency
- ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome
- OMIM:606054 Propionic acidemia
- ORPHA:35 Propionic acidemia
- OMIM:600955 Proprotein convertase 1/3 deficiency
- OMIM:176807 Prostate cancer
- OMIM:601518 Prostate cancer, hereditary, 1
- OMIM:300147 Prostate cancer, hereditary, X-linked 1
- OMIM:603688 Prostate cancer/brain cancer susceptibility
- OMIM:600082 Prostatic hyperplasia, benign
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- OMIM:618884 Proteinuria, chronic benign
- OMIM:308990 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
- ORPHA:744 Proteus syndrome
- ORPHA:2969 Proteus-like syndrome
- ORPHA:261197 Proximal 16p11.2 microdeletion syndrome
- ORPHA:370079 Proximal 16p11.2 microduplication syndrome
- ORPHA:47159 Proximal renal tubular acidosis
- ORPHA:1762 Proximal Xq28 duplication syndrome
- OMIM:100100 Prune belly syndrome
- ORPHA:2970 Prune belly syndrome
- OMIM:264140 Prune belly syndrome with pulmonic stenosis, mental retardation, anddeafness
- OMIM:618886 Pseudo-Torch syndrome 3
- ORPHA:221120 Pseudoaminopterin syndrome
- OMIM:264270 Pseudohermaphroditism, female, with skeletal anomalies
- OMIM:264300 Pseudohermaphroditism, male, with gynecomastia
- OMIM:264350 Pseudohypoaldosteronism, type I, autosomal recessive
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:94090 Pseudohypoparathyroidism type 2
- ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy
- OMIM:103580 Pseudohypoparathyroidism, type IA
- OMIM:603233 Pseudohypoparathyroidism, type IB
- OMIM:612462 Pseudohypoparathyroidism, type IC
- ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type
- OMIM:264480 Pseudotrisomy 13 syndrome
- OMIM:264600 Pseudovaginal perineoscrotal hypospadias
- ORPHA:306498 PTEN hamartoma tumor syndrome
- OMIM:177980 Pterygia, mental retardation, and distinctive craniofacial features
- ORPHA:60039 Pudendal neuralgia
- ORPHA:60025 Pulmonary alveolar microlithiasis
- ORPHA:79501 Punctate palmoplantar keratoderma type 1
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:441 Pure autonomic failure
- ORPHA:254854 Pure mitochondrial myopathy
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- OMIM:179000 Purpura simplex
- ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- ORPHA:764 Pyomyositis
- ORPHA:3008 Pyruvate carboxylase deficiency
- OMIM:266150 Pyruvate carboxylase deficiency
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- ORPHA:2394 Pyruvate dehydrogenase E3 deficiency
- ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:769 Rabson-Mendenhall syndrome
- OMIM:312190 Radial aplasia, X-linked
- OMIM:179250 Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema
- ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- OMIM:179280 Radial-Renal syndrome
- ORPHA:70475 Radiation proctitis
- ORPHA:3015 Radio-renal syndrome
- OMIM:616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome
- OMIM:617537 Rahman syndrome
- OMIM:259775 Raine syndrome
- OMIM:613658 Rajab interstitial lung disease with brain calcifications
- OMIM:266270 Ramon syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- OMIM:129400 Rapp-Hodgkin syndrome
- OMIM:619695 Rauch-Steindl syndrome
- ORPHA:29207 Reactive arthritis
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:461 Recessive X-linked ichthyosis
- ORPHA:96167 Recombinant 8 syndrome
- OMIM:179613 Recombinant chromosome 8 syndrome
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- OMIM:266500 Refsum disease
- ORPHA:773 Refsum disease
- OMIM:312300 Reifenstein syndrome
- ORPHA:91547 Relapsing fever
- ORPHA:728 Relapsing polychondritis
- ORPHA:411709 Renal agenesis
- ORPHA:1848 Renal agenesis, bilateral
- OMIM:266810 Renal and mullerian duct hypoplasia
- ORPHA:2838 Renal caliceal diverticuli-deafness syndrome
- OMIM:144700 Renal cell carcinoma, nonpapillary
- OMIM:605074 Renal cell carcinoma, papillary, 1, familial and somatic
- OMIM:300854 Renal cell carcinoma, xp11-associated
- ORPHA:1475 Renal coloboma syndrome
- OMIM:137920 Renal cysts and diabetes syndrome
- ORPHA:93108 Renal dysplasia
- OMIM:601331 Renal dysplasia, cystic, susceptibility to
- OMIM:161900 Renal failure, progressive, with hypertension
- OMIM:233100 Renal glucosuria
- OMIM:191830 Renal hypodysplasia/aplasia 1
- OMIM:617805 Renal hypodysplasia/aplasia 3
- OMIM:619887 Renal hypodysplasia/aplasia 4
- ORPHA:93101 Renal hypoplasia
- ORPHA:97362 Renal hypoplasia, bilateral
- ORPHA:71273 Renal nutcracker syndrome
- OMIM:267200 Renal tubular acidosis III
- OMIM:179800 Renal tubular acidosis, distal, autosomal dominant
- OMIM:611590 Renal tubular acidosis, distal, with hemolytic anemia
- OMIM:611555 Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies
- OMIM:267300 Renal tubular acidosis, distal, with progressive nerve deafness
- OMIM:179830 Renal tubular acidosis, proximal
- OMIM:604278 Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation
- OMIM:267430 Renal tubular dysgenesis
- ORPHA:3033 Renal tubular dysgenesis
- OMIM:560000 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia
- OMIM:267400 Renal, genital, and middle ear anomalies
- OMIM:208540 Renal-hepatic-pancreatic dysplasia 1
- OMIM:615415 Renal-Hepatic-Pancreatic dysplasia 2
- OMIM:309500 Renpenning syndrome
- ORPHA:3242 Renpenning syndrome
- ORPHA:494344 RERE-related neurodevelopmental syndrome
- ORPHA:1662 Restrictive dermopathy
- OMIM:275210 Restrictive dermopathy 1
- OMIM:617175 Retinal dystrophy with or without extraocular anomalies
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- OMIM:180080 Retinal venous beading
- ORPHA:791 Retinitis pigmentosa
- OMIM:613464 Retinitis pigmentosa 51
- OMIM:613861 Retinitis pigmentosa 59
- OMIM:616562 Retinitis pigmentosa 74
- OMIM:268010 Retinitis pigmentosa inversa with deafness
- OMIM:250410 Retinitis pigmentosa with or without skeletal anomalies
- OMIM:268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
- ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- OMIM:268040 Retinohepatoendocrinologic syndrome
- ORPHA:69077 Rhabdoid tumor
- OMIM:180295 Rhabdomyosarcoma, embryonal, 2
- ORPHA:3099 Rheumatic fever
- OMIM:618821 Rhizomelic limb shortening with dysmorphic features
- ORPHA:59315 Rhombencephalosynapsis
- ORPHA:140976 RHYNS syndrome
- OMIM:602152 Rhyns syndrome
- OMIM:615026 Riboflavin deficiency
- ORPHA:97229 Riboflavin transporter deficiency
- OMIM:608611 Ribose 5-phosphate isomerase deficiency
- ORPHA:1399 Richards-Rundle syndrome
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- ORPHA:217335 RIN2 syndrome
- ORPHA:1438 Ring chromosome 10 syndrome
- ORPHA:1439 Ring chromosome 12 syndrome
- ORPHA:96176 Ring chromosome 13 syndrome
- ORPHA:1445 Ring chromosome 21 syndrome
- ORPHA:1446 Ring chromosome 22 syndrome
- ORPHA:1448 Ring chromosome 6 syndrome
- ORPHA:1449 Ring chromosome 7 syndrome
- ORPHA:1450 Ring chromosome 8 syndrome
- ORPHA:261529 Ring chromosome Y syndrome
- OMIM:220210 Ritscher-Schinzel syndrome 1
- OMIM:300963 Ritscher-Schinzel syndrome 2
- OMIM:619135 Ritscher-Schinzel syndrome 3
- OMIM:619435 Ritscher-Schinzel syndrome 4
- ORPHA:3103 Roberts syndrome
- OMIM:268300 Roberts syndrome
- ORPHA:97360 Robinow syndrome
- OMIM:180700 Robinow syndrome, autosomal dominant 1
- OMIM:616331 Robinow syndrome, autosomal dominant 2
- OMIM:616894 Robinow syndrome, autosomal dominant 3
- OMIM:268310 Robinow syndrome, autosomal recessive
- OMIM:268315 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- ORPHA:353298 Roifman syndrome
- OMIM:613328 Roifman-Chitayat syndrome
- ORPHA:2909 Rothmund-Thomson syndrome
- OMIM:268400 Rothmund-Thomson syndrome
- ORPHA:221008 Rothmund-Thomson syndrome type 1
- ORPHA:221016 Rothmund-Thomson syndrome type 2
- OMIM:618625 Rothmund-thomson syndrome, type 1
- ORPHA:3111 Rotor syndrome
- ORPHA:3115 Roussy-Lévy syndrome
- ORPHA:783 Rubinstein-Taybi syndrome
- OMIM:180849 Rubinstein-Taybi syndrome 1
- ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations
- ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- OMIM:268650 Rudiger syndrome
- ORPHA:3121 Ruvalcaba syndrome
- OMIM:180870 Ruvalcaba syndrome
Code pathologie
Nom de la pathologie
- ORPHA:3124 Saccharopinuria
- OMIM:268700 SACCHAROPINURIA
- OMIM:600145 Sacral defect with anterior meningocele
- ORPHA:794 Saethre-Chotzen syndrome
- OMIM:268800 Sandhoff disease
- ORPHA:309162 Sandhoff disease, juvenile form
- ORPHA:2323 Sanjad-Sakati syndrome
- ORPHA:797 Sarcoidosis
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- ORPHA:3129 Sarcosinemia
- ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement
- OMIM:600705 Satoyoshi syndrome
- ORPHA:3130 Satoyoshi syndrome
- OMIM:181180 Say syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:181270 Scalp-Ear-Nipple syndrome
- ORPHA:2036 Scalp-ear-nipple syndrome
- ORPHA:3134 SCARF syndrome
- OMIM:312830 Scarf syndrome
- ORPHA:449280 Scedosporiosis
- OMIM:615547 Schaaf-Yang syndrome
- ORPHA:93474 Scheie syndrome
- OMIM:164220 Schilbach-Rott syndrome
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:163200 Schimmelpenning-Feuerstein-Mims syndrome
- OMIM:609241 Schindler disease, type I
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:63862 Schisis association
- OMIM:181510 Schizophrenia 1
- ORPHA:3144 Schneckenbecken dysplasia
- OMIM:300977 Scholte syndrome
- OMIM:615009 Schuurs-Hoeijmakers syndrome
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:255800 Schwartz-jampel syndrome, type 1
- ORPHA:50944 Schöpf-Schulz-Passarge syndrome
- ORPHA:185 Scimitar syndrome
- ORPHA:801 Scleroderma
- ORPHA:167635 Scleromyxedema
- OMIM:617394 Sclerosing cholangitis, neonatal
- OMIM:269500 Sclerosteosis 1
- ORPHA:466677 Scorpion envenomation
- ORPHA:83317 Scrub typhus
- ORPHA:841 Sebocystomatosis
- OMIM:210600 Seckel syndrome 1
- OMIM:617253 Seckel syndrome 10
- OMIM:606744 Seckel syndrome 2
- OMIM:613823 Seckel syndrome 5
- OMIM:614851 Seckel syndrome 7
- OMIM:615807 Seckel syndrome 8
- OMIM:616777 Seckel syndrome 9
- ORPHA:99857 Secondary syringomyelia
- OMIM:617213 Sedoheptulokinase deficiency
- ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome
- OMIM:612780 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- ORPHA:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome
- ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome
- ORPHA:331235 Selective IgM deficiency
- ORPHA:79411 Self-improving dystrophic epidermolysis bullosa
- ORPHA:220386 Semilobar holoprosencephaly
- OMIM:212350 Sengers syndrome
- ORPHA:84081 Senior-Boichis syndrome
- ORPHA:3156 Senior-Loken syndrome
- OMIM:266900 Senior-Loken syndrome 1
- OMIM:606995 Senior-Loken syndrome 3
- OMIM:606996 Senior-Loken syndrome 4
- OMIM:609254 Senior-Loken syndrome 5
- OMIM:610189 Senior-Loken syndrome 6
- OMIM:613615 Senior-Loken syndrome 7
- OMIM:616307 Senior-Loken syndrome 8
- OMIM:616629 Senior-Loken syndrome 9
- ORPHA:90051 Sepsis in premature infants
- ORPHA:3157 Septo-optic dysplasia spectrum
- ORPHA:139466 SERKAL syndrome
- ORPHA:43116 Serotonin syndrome
- ORPHA:157798 Serrated polyposis syndrome
- OMIM:305700 Sertoli cell-only syndrome
- ORPHA:140896 Severe acute respiratory syndrome
- 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
- ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts
- ORPHA:171430 Severe congenital nemaline myopathy
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- ORPHA:2715 Severe oculo-renal-cerebellar syndrome
- ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:468726 Severe primary trimethylaminuria
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- OMIM:617190 Shashi-Pena syndrome
- ORPHA:91355 Sheehan syndrome
- ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome
- ORPHA:810 Shigellosis
- ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency
- ORPHA:1505 Short rib-polydactyly syndrome
- OMIM:615503 Short rib-polydactyly syndrome, type VI
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- OMIM:618702 Short stature and microcephaly with genital anomalies
- OMIM:601350 Short stature syndrome, Brussels type
- OMIM:602471 Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities
- ORPHA:2867 Short stature, Brussels type
- OMIM:619184 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:619234 Short stature, oligodontia, dysmorphic facies, and motor delay
- OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
- OMIM:617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
- ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome
- ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome
- OMIM:208500 Short-Rib thoracic dysplasia 1 with or without polydactyly
- OMIM:615630 Short-Rib thoracic dysplasia 10 with or without polydactyly
- OMIM:615633 Short-Rib thoracic dysplasia 11 with or without polydactyly
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:616300 Short-Rib thoracic dysplasia 13 with or without polydactyly
- OMIM:616546 Short-Rib thoracic dysplasia 14 with polydactyly
- OMIM:617088 Short-rib thoracic dysplasia 15 with polydactyly
- OMIM:617866 Short-Rib thoracic dysplasia 18 with polydactyly
- OMIM:617895 Short-Rib thoracic dysplasia 19 with or without polydactyly
- OMIM:617925 Short-Rib thoracic dysplasia 20 with polydactyly
- OMIM:619479 Short-rib thoracic dysplasia 21 without polydactyly
- OMIM:613819 Short-Rib thoracic dysplasia 4 with or without polydactyly
- OMIM:614376 Short-Rib thoracic dysplasia 5 with or without polydactyly
- OMIM:263520 Short-Rib thoracic dysplasia 6 with or without polydactyly
- OMIM:614091 Short-Rib thoracic dysplasia 7 with or without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- OMIM:182212 Shprintzen-Goldberg craniosynostosis syndrome
- ORPHA:2462 Shprintzen-Goldberg syndrome
- OMIM:260400 Shwachman-Diamond syndrome 1
- ORPHA:812 Sialidosis type 1
- ORPHA:87876 Sialidosis type 2
- OMIM:269921 Sialuria
- OMIM:603903 Sickle cell anemia
- OMIM:618635 Siddiqi syndrome
- OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- OMIM:617159 Sifrim-Hitz-Weiss syndrome
- ORPHA:813 Silver-Russell syndrome
- OMIM:180860 Silver-Russell syndrome 1
- OMIM:616489 Silver-Russell syndrome 3
- ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication
- ORPHA:397590 Silver-Russell syndrome due to a point mutation
- ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15
- ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- ORPHA:398079 SIM1-related Prader-Willi-like syndrome
- ORPHA:91139 Simple cryoglobulinemia
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- ORPHA:3169 Sirenomelia
- ORPHA:488437 SIX2-related frontonasal dysplasia
- OMIM:270150 Sjogren syndrome
- OMIM:612447 Skeletal defects, genital hypoplasia, and mental retardation
- OMIM:602613 Skeletal dysplasia and progressive central nervous system degeneration, lethal
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- OMIM:616734 Skin creases, congenital symmetric circumferential, 2
- ORPHA:356961 SLC35A2-CDG
- ORPHA:284400 Small cell carcinoma of the bladder
- OMIM:616638 Smith-Kingsmore syndrome
- ORPHA:818 Smith-Lemli-Opitz syndrome
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:182290 Smith-Magenis syndrome
- ORPHA:449285 Snakebite envenomation
- ORPHA:820 Sneddon syndrome
- OMIM:618604 Snijders Blok-Fisher syndrome
- ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma
- ORPHA:314769 Somatomammotropinoma
- ORPHA:821 Sotos syndrome
- OMIM:117550 Sotos syndrome
- OMIM:611390 Spastic ataxia 3, autosomal recessive
- OMIM:618438 Spastic ataxia 9, autosomal recessive
- OMIM:270550 Spastic ataxia, Charlevoix-Saguenay type
- OMIM:607225 Spastic paralysis, infantile-onset ascending
- OMIM:312910 Spastic paraparesis and deafness
- ORPHA:2815 Spastic paraparesis-deafness syndrome
- OMIM:604187 Spastic paraplegia 10, autosomal dominant
- OMIM:604360 Spastic paraplegia 11, autosomal recessive
- OMIM:604805 Spastic paraplegia 12, autosomal dominant
- OMIM:605280 Spastic paraplegia 13, autosomal dominant
- OMIM:270700 Spastic paraplegia 15, autosomal recessive
- OMIM:300266 Spastic paraplegia 16, X-linked
- OMIM:607152 Spastic paraplegia 19, autosomal dominant
- OMIM:609195 Spastic paraplegia 26, autosomal recessive
- OMIM:609041 Spastic paraplegia 27, autosomal recessive
- OMIM:609727 Spastic paraplegia 29, autosomal dominant
- OMIM:182600 Spastic paraplegia 3, autosomal dominant
- OMIM:610357 Spastic paraplegia 30, autosomal recessive
- OMIM:610250 Spastic paraplegia 31, autosomal dominant
- OMIM:612319 Spastic paraplegia 35, autosomal recessive
- OMIM:613096 Spastic paraplegia 36, autosomal dominant
- OMIM:611945 Spastic paraplegia 37, autosomal dominant
- OMIM:182601 Spastic paraplegia 4, autosomal dominant
- OMIM:613364 Spastic paraplegia 41, autosomal dominant
- OMIM:613206 Spastic paraplegia 44, autosomal recessive
- OMIM:614409 Spastic paraplegia 46, autosomal recessive
- OMIM:613647 Spastic paraplegia 48, autosomal recessive
- OMIM:615033 Spastic paraplegia 54, autosomal recessive
- OMIM:270800 Spastic paraplegia 5A, autosomal recessive
- OMIM:600363 Spastic paraplegia 6, autosomal dominant
- OMIM:607259 Spastic paraplegia 7, autosomal recessive
- OMIM:615625 Spastic paraplegia 72, autosomal recessive
- OMIM:616907 Spastic paraplegia 76, autosomal recessive
- OMIM:617225 Spastic paraplegia 78, autosomal recessive
- OMIM:603563 Spastic paraplegia 8, autosomal dominant
- OMIM:618418 Spastic paraplegia 80, autosomal dominant
- OMIM:619027 Spastic paraplegia 83, autosomal recessive
- OMIM:619621 Spastic paraplegia 84, autosomal recessive
- OMIM:619686 Spastic paraplegia 85, autosomal recessive
- OMIM:601162 Spastic paraplegia 9A, autosomal dominant
- OMIM:616586 Spastic paraplegia 9B, autosomal recessive
- ORPHA:99015 Spastic paraplegia type 2
- ORPHA:99013 Spastic paraplegia type 7
- OMIM:607565 Spastic paraplegia, ataxia, and mental retardation
- OMIM:182690 Spastic paraplegia, sensorineural deafness, mental retardation, and
- ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:2826 Spastic paraplegia-precocious puberty syndrome
- ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome
- ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- ORPHA:1519 SPECC1L-related hypertelorism syndrome
- OMIM:258150 Spermatogenic failure 1
- OMIM:614822 Spermatogenic failure 10
- OMIM:615081 Spermatogenic failure 11
- OMIM:615413 Spermatogenic failure 12
- OMIM:615841 Spermatogenic failure 13
- OMIM:615842 Spermatogenic failure 14
- OMIM:616950 Spermatogenic failure 15
- OMIM:617187 Spermatogenic failure 16
- OMIM:617214 Spermatogenic failure 17
- OMIM:617576 Spermatogenic failure 18
- OMIM:617592 Spermatogenic failure 19
- OMIM:108420 Spermatogenic failure 2
- OMIM:617593 Spermatogenic failure 20
- OMIM:617644 Spermatogenic failure 21
- OMIM:617706 Spermatogenic failure 22
- OMIM:617707 Spermatogenic failure 23
- OMIM:617959 Spermatogenic failure 24
- OMIM:617960 Spermatogenic failure 25
- OMIM:617961 Spermatogenic failure 26
- OMIM:617965 Spermatogenic failure 27
- OMIM:618086 Spermatogenic failure 28
- OMIM:618091 Spermatogenic failure 29
- OMIM:606766 Spermatogenic failure 3
- OMIM:618110 Spermatogenic failure 30
- OMIM:618112 Spermatogenic failure 31
- OMIM:618115 Spermatogenic failure 32
- OMIM:618152 Spermatogenic failure 33
- OMIM:618153 Spermatogenic failure 34
- OMIM:618341 Spermatogenic failure 35
- OMIM:618420 Spermatogenic failure 36
- OMIM:618429 Spermatogenic failure 37
- OMIM:618433 Spermatogenic failure 38
- OMIM:618643 Spermatogenic failure 39
- OMIM:270960 Spermatogenic failure 4
- OMIM:618664 Spermatogenic failure 40
- OMIM:618670 Spermatogenic failure 41
- OMIM:618745 Spermatogenic failure 42
- OMIM:618751 Spermatogenic failure 43
- OMIM:619044 Spermatogenic failure 44
- OMIM:619094 Spermatogenic failure 45
- OMIM:619095 Spermatogenic failure 46
- OMIM:619102 Spermatogenic failure 47
- OMIM:619108 Spermatogenic failure 48
- OMIM:619144 Spermatogenic failure 49
- OMIM:619145 Spermatogenic failure 50
- OMIM:619177 Spermatogenic failure 51
- OMIM:619202 Spermatogenic failure 52
- OMIM:619258 Spermatogenic failure 53
- OMIM:619379 Spermatogenic failure 54
- OMIM:619380 Spermatogenic failure 55
- OMIM:619515 Spermatogenic failure 56
- OMIM:619528 Spermatogenic failure 57
- OMIM:619585 Spermatogenic failure 58
- OMIM:619645 Spermatogenic failure 59
- OMIM:102530 Spermatogenic failure 6
- OMIM:619646 Spermatogenic failure 60
- OMIM:619672 Spermatogenic failure 61
- OMIM:619673 Spermatogenic failure 62
- OMIM:619689 Spermatogenic failure 63
- OMIM:619696 Spermatogenic failure 64
- OMIM:619712 Spermatogenic failure 65
- OMIM:619799 Spermatogenic failure 66
- OMIM:619803 Spermatogenic failure 67
- OMIM:619805 Spermatogenic failure 68
- OMIM:619826 Spermatogenic failure 69
- OMIM:612997 Spermatogenic failure 7
- OMIM:619828 Spermatogenic failure 70
- OMIM:619831 Spermatogenic failure 71
- OMIM:619867 Spermatogenic failure 72
- OMIM:619878 Spermatogenic failure 73
- OMIM:619937 Spermatogenic failure 74
- OMIM:619949 Spermatogenic failure 75
- OMIM:620084 Spermatogenic failure 76
- OMIM:620103 Spermatogenic failure 77
- OMIM:613957 Spermatogenic failure 8
- OMIM:613958 Spermatogenic failure 9
- OMIM:309120 SPERMATOGENIC FAILURE, X-LINKED, 2
- OMIM:301059 Spermatogenic failure, X-linked, 3
- OMIM:301077 Spermatogenic failure, X-linked, 4
- OMIM:400042 Spermatogenic failure, Y-linked, 1
- OMIM:415000 Spermatogenic failure, Y-linked, 2
- ORPHA:3176 Spina bifida-hypospadias syndrome
- ORPHA:53721 Spinal arteriovenous metameric syndrome
- OMIM:604320 Spinal muscular atrophy, distal, autosomal recessive, 1
- OMIM:301830 Spinal muscular atrophy, X-linked 2
- OMIM:608703 Spinocerebellar ataxia 25
- OMIM:613909 Spinocerebellar ataxia 32
- OMIM:616795 Spinocerebellar ataxia 42
- OMIM:618093 Spinocerebellar ataxia 48
- ORPHA:98768 Spinocerebellar ataxia type 13
- ORPHA:98772 Spinocerebellar ataxia type 19/22
- ORPHA:101111 Spinocerebellar ataxia type 25
- ORPHA:276183 Spinocerebellar ataxia type 32
- ORPHA:458803 Spinocerebellar ataxia type 42
- ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2
- OMIM:615768 Spinocerebellar ataxia, autosomal recessive 16
- OMIM:616354 Spinocerebellar ataxia, autosomal recessive 20
- OMIM:183300 Splenogonadal fusion with limb defects and micrognathia
- ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome
- ORPHA:573278 Split cord malformation
- OMIM:183802 Split-Hand with obstructive uropathy, spina bifida, and diaphragmaticdefects
- OMIM:246560 Split-Hand/foot malformation 3
- ORPHA:93357 SPONASTRIME dysplasia
- OMIM:272460 Spondylocarpotarsal synostosis syndrome
- OMIM:271520 Spondylocostal dysostosis with anal atresia and urogenital anomalies
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- OMIM:184095 Spondyloepiphyseal dysplasia, Maroteaux type
- ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type
- OMIM:602271 Spondylometaphyseal dysplasia, axial
- OMIM:605822 Spondyloocular syndrome
- ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology
- ORPHA:225147 Sporadic infantile bilateral striatal necrosis
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- OMIM:618156 Squalene synthase deficiency
- ORPHA:370927 SSR4-CDG
- ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- OMIM:617516 Stankiewicz-Isidor syndrome
- OMIM:184705 Steinfeld syndrome
- ORPHA:36426 Stevens-Johnson syndrome
- ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- OMIM:611961 Stevenson-Carey syndrome
- ORPHA:2833 Stiff skin syndrome
- ORPHA:3199 Stimmler syndrome
- OMIM:243605 Stromme syndrome
- OMIM:617478 Structural heart defects and renal anomalies syndrome
- ORPHA:370921 STT3A-CDG
- ORPHA:370924 STT3B-CDG
- ORPHA:251639 Subependymoma
- OMIM:271980 Succinic semialdehyde dehydrogenase deficiency
- OMIM:245050 Succinyl CoA:3-oxoacid CoA transferase deficiency
- OMIM:222900 Sucrase-isomaltase deficiency, congenital
- OMIM:608800 Sudden infant death with dysgenesis of the testes syndrome
- ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome
- OMIM:618950 Suleiman-El-Hattab syndrome
- OMIM:272300 SULFOCYSTEINURIA
- ORPHA:247245 Superficial siderosis
- OMIM:617746 Sweeney-Cox syndrome
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:84064 Syndromic diarrhea
- ORPHA:281090 Syndromic recessive X-linked ichthyosis
- ORPHA:85274 Syndromic X-linked intellectual disability 7
- ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy
- OMIM:186700 Syringomyelia, isolated
- ORPHA:188 Systemic capillary leak syndrome
- OMIM:152700 Systemic lupus erythematosus
- OMIM:614420 Systemic lupus erythematosus 16
- OMIM:609939 Systemic lupus erythematosus, susceptibility to, 6
- ORPHA:90291 Systemic sclerosis
Code pathologie
Nom de la pathologie
- ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency
- OMIM:616737 Takenouchi-Kosaki syndrome
- ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome
- OMIM:609655 Talo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals
- OMIM:311900 Tarp syndrome
- ORPHA:2886 TARP syndrome
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- OMIM:615879 Tatton-Brown-Rahman syndrome
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:145420 Teebi hypertelorism syndrome 1
- OMIM:619736 Teebi hypertelorism syndrome 2
- OMIM:272950 Teebi-Shaltout syndrome
- ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder
- ORPHA:284227 TEMPI syndrome
- ORPHA:254516 Temple syndrome
- OMIM:616222 Temple syndrome
- ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
- ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion
- OMIM:616260 Tenorio syndrome
- OMIM:166950 Teratoma, ovarian
- OMIM:273120 Teratoma, pineal
- OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1
- OMIM:619759 Tessadori-van Haaften neurodevelopmental syndrome 2
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- OMIM:619951 Tessadori-van Haaften neurodevelopmental syndrome 4
- OMIM:273150 Testes, rudimentary
- ORPHA:325124 Testicular agenesis
- OMIM:615542 Testicular anomalies with or without congenital heart disease
- OMIM:300228 Testicular germ cell tumor 1
- OMIM:610441 Testicular microlithiasis
- ORPHA:983 Testicular regression syndrome
- OMIM:187400 Testicular torsion
- OMIM:273300 Testicular tumor, somatic
- ORPHA:3299 Tetanus
- OMIM:273390 Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities
- OMIM:618021 Tetraamelia syndrome 2
- OMIM:273395 Tetraamelia, autosomal recessive
- ORPHA:3301 Tetraamelia-multiple malformations syndrome
- ORPHA:199310 Tetragametic chimerism
- ORPHA:3303 Tetralogy of Fallot
- OMIM:273400 Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities
- ORPHA:3305 Tetraploidy
- ORPHA:3310 Tetrasomy 9p
- ORPHA:9 Tetrasomy X
- ORPHA:1780 Thakker-Donnai syndrome
- ORPHA:2655 Thanatophoric dysplasia
- ORPHA:1860 Thanatophoric dysplasia type 1
- ORPHA:93274 Thanatophoric dysplasia type 2
- OMIM:617107 Thauvin-Robinet-Faivre syndrome
- OMIM:614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
- OMIM:249270 Thiamine-Responsive megaloblastic anemia syndrome
- ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- ORPHA:3316 Thomas syndrome
- OMIM:313850 Thoracoabdominal syndrome
- OMIM:273770 THREONINEMIA
- ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia
- OMIM:314000 Thrombocytopenia with elevated serum IgA and renal disease
- ORPHA:54057 Thrombotic thrombocytopenic purpura
- OMIM:274150 Thrombotic thrombocytopenic purpura, hereditary
- OMIM:274205 Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness
- ORPHA:83471 Thymic aplasia
- ORPHA:97289 Thymic neuroendocrine tumor
- OMIM:274265 Thymic-Renal-Anal-Lung dysplasia
- ORPHA:99867 Thymoma
- ORPHA:3327 Thyrocerebrorenal syndrome
- OMIM:274240 Thyrocerebroretinal syndrome
- OMIM:616534 Thyroid cancer, nonmedullary, 4
- ORPHA:79102 Thyrotoxic periodic paralysis
- ORPHA:93322 Tibial hemimelia
- OMIM:275190 Tiglic acidemia
- ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy
- OMIM:300707 Toe syndactyly, telecanthus, and anogenital and renal malformations
- ORPHA:1920 Toluene embryopathy
- OMIM:300978 Tonne-Kalscheuer syndrome
- ORPHA:3339 Toriello-Lacassie-Droste syndrome
- OMIM:314300 Torticollis, keloids, cryptorchidism, and renal dysplasia
- ORPHA:857 Townes-Brocks syndrome
- OMIM:107480 Townes-Brocks syndrome 1
- OMIM:617466 Townes-Brocks syndrome 2
- ORPHA:537 Toxic epidermal necrolysis
- OMIM:606003 Transaldolase deficiency
- ORPHA:101028 Transaldolase deficiency
- ORPHA:859 Transcobalamin deficiency
- OMIM:275350 Transcobalamin II deficiency
- ORPHA:99886 Transient neonatal diabetes mellitus
- ORPHA:488618 Transketolase deficiency
- OMIM:154500 Treacher Collins syndrome 1
- ORPHA:861 Treacher-Collins syndrome
- OMIM:618866 Tremor, hereditary essential, 6
- ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome
- ORPHA:3353 Trichodermodysplasia-dental alterations syndrome
- OMIM:222470 Trichohepatoenteric syndrome 1
- ORPHA:502 Trichorhinophalangeal syndrome type 2
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:616395 Trichothiodystrophy 3, photosensitive
- OMIM:234050 Trichothiodystrophy 4, nonphotosensitive
- OMIM:300953 Trichothiodystrophy 5, nonphotosensitive
- OMIM:190440 Trigonocephaly 1
- OMIM:602079 Trimethylaminuria
- ORPHA:3376 Triploidy
- ORPHA:171929 Trisomy 10p
- ORPHA:1699 Trisomy 12p
- ORPHA:3378 Trisomy 13
- ORPHA:261290 Trisomy 17p
- ORPHA:3380 Trisomy 18
- ORPHA:1715 Trisomy 18p
- ORPHA:261344 Trisomy 1q
- ORPHA:261318 Trisomy 20p
- ORPHA:1738 Trisomy 4p
- ORPHA:1742 Trisomy 5p
- ORPHA:264450 Trisomy 8p
- ORPHA:1752 Trisomy 8q
- ORPHA:3375 Trisomy X
- OMIM:276100 Tryptophanuria with dwarfism
- ORPHA:91347 TSH-secreting pituitary adenoma
- ORPHA:805 Tuberous sclerosis complex
- OMIM:191100 Tuberous sclerosis-1
- OMIM:613254 Tuberous sclerosis-2
- OMIM:162000 Tubulointerstitial kidney disease, autosomal dominant, 1
- OMIM:174000 Tubulointerstitial kidney disease, autosomal dominant, 2
- OMIM:613092 Tubulointerstitial kidney disease, autosomal dominant, 4
- OMIM:617056 Tubulointerstitial kidney disease, autosomal dominant, 5
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- OMIM:607665 Tubulointerstitial nephritis with uveitis
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:614327 Tumor predisposition syndrome
- OMIM:619975 Tumor predisposition syndrome 2
- OMIM:211900 Tumoral calcinosis, hyperphosphatemic, familial, 1
- OMIM:617993 Tumoral calcinosis, hyperphosphatemic, familial, 2
- OMIM:617994 Tumoral calcinosis, hyperphosphatemic, familial, 3
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:276600 Tyrosine transaminase deficiency
- ORPHA:882 Tyrosinemia type 1
- OMIM:276700 Tyrosinemia, type I
- OMIM:276710 Tyrosinemia, type III
- OMIM:615102 Tyshchenko syndrome
Code pathologie
Nom de la pathologie
- ORPHA:3404 Ulbright-Hodes syndrome
- OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency
- ORPHA:1837 Ulna metaphyseal dysplasia syndrome
- ORPHA:3138 Ulnar-mammary syndrome
- OMIM:181450 Ulnar-Mammary syndrome
- ORPHA:268947 Unilateral focal polymicrogyria
- ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome
- ORPHA:488 Urachal cyst
- ORPHA:3409 Urban-Rogers-Meyer syndrome
- ORPHA:94059 Uremic pruritus
- OMIM:191550 Ureter, bifid or double
- OMIM:191600 Ureter, cancer of
- OMIM:191650 URETEROCELE
- OMIM:266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to
- OMIM:618477 URIDINE-CYTIDINEURIA
- OMIM:276880 Urocanase deficiency
- ORPHA:210128 Urocanic aciduria
- OMIM:236730 Urofacial syndrome
- OMIM:615112 Urofacial syndrome 2
- OMIM:191700 Urolithiasis, uric acid, autosomal dominant
- ORPHA:886 Usher syndrome
- OMIM:192000 Uterine anomalies
- ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability
Code pathologie
Nom de la pathologie
- OMIM:276950 Vacterl association with hydrocephalus
- OMIM:314390 VACTERL association, X-linked
- ORPHA:3412 VACTERL with hydrocephalus
- ORPHA:887 VACTERL/VATER association
- ORPHA:65681 Vaginal atresia
- OMIM:277100 VALINEMIA
- OMIM:600920 Van den Ende-Gupta syndrome
- OMIM:301030 Van Esch-O'Driscoll syndrome
- OMIM:601390 Van Maldergem syndrome 1
- OMIM:615546 Van maldergem syndrome 2
- ORPHA:314652 Variant ABeta2M amyloidosis
- OMIM:277180 Vas deferens, congenital bilateral aplasia of
- OMIM:300985 Vas deferens, congenital bilateral aplasia of, X-linked
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy
- OMIM:192350 Vater associationvacterl association, included
- OMIM:192430 Velocardiofacial syndrome
- OMIM:219730 Ventriculomegaly with cystic kidney disease
- OMIM:602200 Ventriculomegaly with defects of the radius and kidney
- OMIM:615583 Verheij syndrome
- ORPHA:3429 Verloove Vanhorick-Brubakk syndrome
- OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1
- OMIM:617661 Vertebral, cardiac, renal, and limb defects syndrome 2
- OMIM:618845 Vertebral, cardiac, renal, and limb defects syndrome 3
- OMIM:619227 Vertebral, cardiac, tracheoesophageal, renal, and limb defects
- OMIM:201475 Very long-chain acyl-CoA dehydrogenase deficiency
- OMIM:193000 Vesicoureteral reflux 1
- OMIM:610878 Vesicoureteral reflux 2
- OMIM:613674 Vesicoureteral reflux 3
- OMIM:615963 Vesicoureteral reflux 8
- OMIM:314550 Vesicoureteral reflux, X-linked
- OMIM:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- OMIM:155310 Visceral myopathy 1
- OMIM:619350 Visceral myopathy 2
- ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- OMIM:228100 Visceral steatosis, congenital
- OMIM:619472 VISS syndrome
- ORPHA:28 Vitamin B12-responsive methylmalonic acidemia
- ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia
- ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-
- ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0
- OMIM:264700 Vitamin D hydroxylation-deficient rickets, type 1A
- OMIM:193250 Volvulus of midgut
- ORPHA:892 Von Hippel-Lindau disease
- OMIM:193300 von Hippel-Lindau syndrome
- OMIM:193400 Von willebrand disease, type 1
- OMIM:613554 Von willebrand disease, type 2
- OMIM:277480 Von willebrand disease, type 3
- ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:83453 Vulvovaginal gingival syndrome
- OMIM:193450 Vulvovaginitis, allergic seminal
Code pathologie
Nom de la pathologie
- ORPHA:3440 Waardenburg syndrome
- ORPHA:895 Waardenburg syndrome type 2
- OMIM:193500 Waardenburg syndrome, type 1
- OMIM:613266 Waardenburg syndrome, type 4C
- ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- ORPHA:893 WAGR syndrome
- OMIM:612469 WAGRO syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- ORPHA:899 Walker-Warburg syndrome
- OMIM:600118 Warburg micro syndrome 1
- OMIM:614225 Warburg micro syndrome 2
- OMIM:614222 Warburg micro syndrome 3
- OMIM:615663 Warburg micro syndrome 4
- ORPHA:69745 Warty dyskeratoma
- ORPHA:3447 Weaver syndrome
- OMIM:277590 Weaver syndrome
- OMIM:615926 Webb-Dattani syndrome
- ORPHA:99971 Well-differentiated liposarcoma
- ORPHA:902 Werner syndrome
- OMIM:277700 Werner syndrome
- OMIM:602418 Weyers ulnar ray/oligodactyly syndrome
- OMIM:193670 Whim syndrome
- ORPHA:51636 WHIM syndrome
- ORPHA:3452 Whipple disease
- OMIM:619426 White-Kernohan syndrome
- OMIM:616364 White-Sutton syndrome
- ORPHA:468678 White-Sutton syndrome
- OMIM:301041 Wieacker-Wolff syndrome, female-restricted
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:319182 Wiedemann-Steiner syndrome
- ORPHA:330001 Wild type ATTR amyloidosis
- ORPHA:904 Williams syndrome
- OMIM:609757 Williams-Beuren region duplication syndrome
- OMIM:194050 Williams-Beuren syndrome
- OMIM:194070 Wilms tumor 1
- OMIM:194090 Wilms tumor 3
- OMIM:601363 Wilms tumor 4
- OMIM:601583 Wilms tumor 5
- OMIM:616806 Wilms tumor 6
- OMIM:194072 Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome
- ORPHA:905 Wilson disease
- OMIM:277900 Wilson disease
- OMIM:309585 Wilson-Turner syndrome
- ORPHA:3459 Wilson-Turner syndrome
- ORPHA:906 Wiskott-Aldrich syndrome
- OMIM:301000 Wiskott-Aldrich syndrome
- OMIM:600903 Wiskott-Aldrich syndrome, autosomal dominant form
- OMIM:613406 Witteveen-Kolk syndrome
- ORPHA:1667 Wolcott-Rallison syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:280 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
- ORPHA:3464 Woodhouse-Sakati syndrome
- OMIM:241080 Woodhouse-Sakati syndrome
- ORPHA:178475 Wound botulism
- OMIM:278250 Wrinkly skin syndrome
- ORPHA:2834 Wrinkly skin syndrome
- OMIM:194350 Wt limb-blood syndrome
Code pathologie
Nom de la pathologie
- ORPHA:96201 X small rings
- ORPHA:300373 X-linked acrogigantism
- ORPHA:43 X-linked adrenoleukodystrophy
- ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:139396 X-linked cerebral adrenoleukodystrophy
- ORPHA:35173 X-linked dominant chondrodysplasia punctata
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:89936 X-linked hypophosphatemia
- ORPHA:2571 X-linked immunoneurologic disorder
- ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations
- ORPHA:85273 X-linked intellectual disability, Abidi type
- ORPHA:85276 X-linked intellectual disability, Armfield type
- ORPHA:85293 X-linked intellectual disability, Cabezas type
- ORPHA:85277 X-linked intellectual disability, Cantagrel type
- ORPHA:163971 X-linked intellectual disability, Cilliers type
- ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:85322 X-linked intellectual disability, Pai type
- ORPHA:85285 X-linked intellectual disability, Schimke type
- ORPHA:85323 X-linked intellectual disability, Seemanova type
- ORPHA:85286 X-linked intellectual disability, Shashi type
- ORPHA:85287 X-linked intellectual disability, Siderius type
- ORPHA:3063 X-linked intellectual disability, Snyder type
- ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type
- ORPHA:163976 X-linked intellectual disability, Van Esch type
- ORPHA:85290 X-linked intellectual disability, Wilson type
- ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome
- ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
- ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- ORPHA:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome
- ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome
- ORPHA:452 X-linked lissencephaly with abnormal genitalia
- ORPHA:2442 X-linked lymphoproliferative disease
- ORPHA:1131 X-linked mandibulofacial dysostosis
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome
- ORPHA:100997 X-linked spastic paraplegia type 16
- OMIM:278300 Xanthinuria, type I
- OMIM:603592 Xanthinuria, type II
- ORPHA:910 Xeroderma pigmentosum
- OMIM:610651 Xeroderma pigmentosum, complementation group B
- OMIM:610965 XFE progeroid syndrome
- ORPHA:3469 XK aprosencephaly syndrome
- ORPHA:261476 Xp21 deletion syndrome
- ORPHA:284180 Xp22.13p22.2 duplication syndrome
- ORPHA:1643 Xp22.3 microdeletion syndrome
- ORPHA:314389 Xq12-q13.3 duplication syndrome
- ORPHA:1435 Xq21 microdeletion syndrome
- ORPHA:261483 Xq27.3q28 duplication syndrome
- ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome
Code pathologie
Nom de la pathologie
Gènes associés :
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Nom du gène
- AAGAB
- AARS2
- AASS
- ABCA12
- ABCA4
- ABCC2
- ABCC8
- ABCD1
- ABCD4
- ABCG5
- ABCG8
- ABL1
- ACAD8
- ACAD9
- ACADM
- ACADS
- ACADVL
- ACAT1
- ACE
- ACER3
- ACP5
- ACSF3
- ACSL4
- ACTA1
- ACTA2
- ACTB
- ACTG1
- ACTG2
- ACTL9
- ACTN4
- ACVRL1
- ADA
- ADA2
- ADAMTS13
- ADAMTS3
- ADAMTSL1
- ADAR
- ADARB1
- ADAT3
- ADCY10
- ADGRG2
- ADH1C
- ADH5
- ADNP
- AEBP1
- AFF3
- AFF4
- AGA
- AGBL5
- AGGF1
- AGK
- AGPAT2
- AGT
- AGTR1
- AGXT
- AGXT2
- AHI1
- AHR
- AHSG
- AIP
- AIRE
- AK7
- AKR1C2
- AKR1C4
- AKR1D1
- AKT1
- AKT2
- AKT3
- ALAD
- ALDH18A1
- ALDH1A2
- ALDH4A1
- ALDH5A1
- ALDH6A1
- ALDOA
- ALDOB
- ALG1
- ALG12
- ALG3
- ALG5
- ALG8
- ALG9
- ALK
- ALKBH8
- ALMS1
- ALOX12B
- ALOXE3
- ALPL
- ALS2
- ALX4
- AMACR
- AMER1
- AMH
- AMHR2
- AMMECR1
- AMN
- AMT
- ANAPC1
- ANAPC7
- ANGPT2
- ANK1
- ANKFY1
- ANKLE2
- ANKRD11
- ANKRD17
- ANKS6
- ANLN
- ANO5
- ANOS1
- ANTXR1
- ANTXR2
- AP1S2
- AP2S1
- AP5Z1
- APC
- APC2
- APOA1
- APOB
- APOE
- APOL1
- APPL1
- APRT
- AQP2
- ARCN1
- ARG1
- ARHGAP24
- ARHGAP31
- ARHGDIA
- ARHGEF18
- ARID1A
- ARID1B
- ARID2
- ARL2BP
- ARL3
- ARL6
- ARL6IP6
- ARMC2
- ARMC5
- ARNT2
- ARPC4
- ARSA
- ARSB
- ARSK
- ARSL
- ARVCF
- ASH1L
- ASL
- ASPA
- ASPH
- ASPM
- ASPRV1
- ASS1
- ASTL
- ASXL1
- ASXL2
- ASXL3
- ATAD3A
- ATIC
- ATL1
- ATM
- ATP11C
- ATP13A2
- ATP1A1
- ATP1A3
- ATP5F1D
- ATP5F1E
- ATP6AP2
- ATP6V0A2
- ATP6V0A4
- ATP6V1A
- ATP6V1B1
- ATP6V1B2
- ATP6V1E1
- ATP7A
- ATP7B
- ATPAF2
- ATR
- ATRX
- AUH
- AURKA
- AURKC
- AUTS2
- AVIL
- AVPR2
- AXIN1
- AXIN2
- AXL
Nom du gène
- B2M
- B3GALNT2
- B3GALT6
- B3GLCT
- B4GALNT1
- B4GALT7
- B4GAT1
- B9D1
- B9D2
- BAP1
- BARD1
- BAX
- BAZ1B
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BCKDHA
- BCKDHB
- BCL10
- BCL7B
- BCOR
- BCR
- BCS1L
- BDNF
- BEST1
- BICC1
- BICRA
- BIN1
- BLK
- BLM
- BLOC1S3
- BLOC1S5
- BLTP1
- BLVRA
- BMP15
- BMP2
- BMP4
- BMP6
- BMPER
- BMPR1A
- BMPR1B
- BNC1
- BNC2
- BPTF
- BPY2
- BRAF
- BRCA1
- BRCA2
- BRCC3
- BRD4
- BRDT
- BRF1
- BRIP1
- BRWD3
- BSCL2
- BSND
- BTD
- BTG4
- BTK
- BTNL2
- BUB1
- BUB1B
- BUB3
- BUD23
Nom du gène
- C11orf80
- C14orf39
- C1QA
- C1QB
- C1QBP
- C1QC
- C2CD3
- C2CD6
- C3
- C4A
- CA2
- CA4
- CA5A
- CABP4
- CACNA1D
- CACNA1G
- CACNA1H
- CACNA1S
- CAD
- CAMK2A
- CAMK2B
- CAMKMT
- CAPN1
- CAPN15
- CARMIL2
- CARS1
- CASK
- CASP10
- CASR
- CASZ1
- CATIP
- CATSPER1
- CATSPER2
- CAV1
- CAVIN1
- CBL
- CBS
- CBX2
- CC2D2A
- CCBE1
- CCDC103
- CCDC141
- CCDC174
- CCDC22
- CCDC28B
- CCDC32
- CCDC34
- CCDC39
- CCDC40
- CCDC62
- CCDC65
- CCDC8
- CCL2
- CCN2
- CCND1
- CCND2
- CCNO
- CCNQ
- CCR1
- CCR6
- CD109
- CD151
- CD2AP
- CD320
- CD3G
- CD46
- CD59
- CD81
- CD96
- CDC14A
- CDC42
- CDC42BPB
- CDC45
- CDC6
- CDC73
- CDCA7
- CDH1
- CDH11
- CDH2
- CDH23
- CDHR1
- CDK4
- CDK5RAP2
- CDK6
- CDK8
- CDKL5
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2A
- CDKN2B
- CDKN2C
- CDON
- CDT1
- CDY1
- CDY2A
- CEACAM3
- CEACAM6
- CEL
- CENPF
- CENPJ
- CENPT
- CEP112
- CEP120
- CEP135
- CEP152
- CEP164
- CEP19
- CEP290
- CEP41
- CEP55
- CEP57
- CEP63
- CEP83
- CEP85L
- CERKL
- CFAP221
- CFAP251
- CFAP298
- CFAP300
- CFAP410
- CFAP418
- CFAP43
- CFAP44
- CFAP45
- CFAP47
- CFAP52
- CFAP58
- CFAP65
- CFAP69
- CFAP70
- CFAP91
- CFB
- CFH
- CFHR1
- CFHR3
- CFHR5
- CFI
- CFTR
- CHCHD10
- CHD4
- CHD7
- CHEK2
- CHKA
- CHMP2B
- CHN1
- CHP1
- CHRM3
- CHRNA2
- CHRNA3
- CHRNA4
- CHRNB2
- CHRNG
- CHST14
- CHUK
- CIDEC
- CIITA
- CILK1
- CISD2
- CIT
- CITED2
- CKAP2L
- CLCA4
- CLCN3
- CLCN4
- CLCN5
- CLCN6
- CLCN7
- CLCNKA
- CLCNKB
- CLDN10
- CLDN16
- CLDN19
- CLDN2
- CLEC7A
- CLIC2
- CLIP2
- CLMP
- CLN3
- CLP1
- CLPB
- CLPP
- CLRN1
- CLTRN
- CNGA1
- CNGB1
- COA8
- COG1
- COG5
- COG6
- COG7
- COL14A1
- COL17A1
- COL18A1
- COL1A1
- COL1A2
- COL25A1
- COL2A1
- COL3A1
- COL4A1
- COL4A3
- COL4A4
- COL4A5
- COL4A6
- COL5A1
- COL5A2
- COL7A1
- COLEC10
- COLEC11
- COMT
- COPA
- COPB1
- COPB2
- COQ2
- COQ6
- COQ7
- COQ8B
- CORIN
- COX14
- COX16
- COX7B
- CPE
- CPLANE1
- CPLX1
- CPOX
- CPS1
- CPT1A
- CPT1C
- CPT2
- CR2
- CRB1
- CRB2
- CREBBP
- CRH
- CRKL
- CRPPA
- CRTAP
- CRX
- CSPP1
- CTBP1
- CTC1
- CTCF
- CTDP1
- CTH
- CTLA4
- CTNNB1
- CTNS
- CTU2
- CUBN
- CUL4B
- CUL7
- CWC27
- CXCR4
- CYB561
- CYB5A
- CYBC1
- CYC1
- CYP11A1
- CYP11B1
- CYP11B2
- CYP17A1
- CYP19A1
- CYP24A1
- CYP27B1
- CYP2R1
- CYP4F22
- CYP7B1
Nom du gène
- D2HGDH
- DAAM2
- DACT1
- DAG1
- DARS2
- DAZ1
- DAZ2
- DAZ3
- DAZ4
- DBH
- DBT
- DCAF17
- DCC
- DCDC2
- DCHS1
- DCLRE1C
- DCTN4
- DCX
- DCXR
- DDB1
- DDB2
- DDHD2
- DDOST
- DDX3Y
- DDX59
- DDX6
- DEAF1
- DEPDC5
- DGCR2
- DGCR6
- DGCR8
- DGKE
- DGUOK
- DHCR24
- DHCR7
- DHDDS
- DHH
- DHODH
- DHTKD1
- DHX16
- DHX37
- DHX38
- DIAPH1
- DIAPH2
- DICER1
- DIS3L2
- DISP1
- DKC1
- DKK1
- DLC1
- DLD
- DLG3
- DLK1
- DLL1
- DLL3
- DLL4
- DLST
- DLX4
- DMD
- DMGDH
- DMP1
- DMRT1
- DMRT3
- DMXL2
- DNA2
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH10
- DNAH11
- DNAH17
- DNAH2
- DNAH5
- DNAH8
- DNAH9
- DNAI1
- DNAI2
- DNAJB11
- DNAJB13
- DNAJC13
- DNAJC19
- DNAJC21
- DNAJC30
- DNAJC6
- DNAL1
- DNAL4
- DNASE1
- DNASE1L3
- DNASE2
- DNHD1
- DNM1L
- DNM2
- DNMT1
- DNMT3A
- DOCK2
- DOCK8
- DOK7
- DPAGT1
- DPF2
- DPH1
- DPH2
- DPH5
- DPM1
- DPM2
- DPY19L2
- DPYD
- DPYS
- DPYSL5
- DRC1
- DSE
- DSTYK
- DTYMK
- DUSP6
- DVL1
- DVL3
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYRK1A
- DYSF
- DZIP1
- DZIP1L
Nom du gène
- EBF3
- EBP
- ECE1
- ECEL1
- EDEM3
- EDNRA
- EDNRB
- EED
- EFEMP2
- EFNB1
- EHHADH
- EHMT1
- EIF2AK1
- EIF2AK2
- EIF2AK3
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EIF2S3
- EIF4G1
- EIF4H
- EIF5A
- ELF4
- ELN
- ELOVL1
- ELP1
- EMG1
- EMP2
- EN1
- ENG
- ENPP1
- EP300
- EPAS1
- EPCAM
- EPG5
- EPHB2
- EPHB4
- ERAL1
- ERAP1
- ERBB2
- ERBB3
- ERCC1
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC8
- ERLIN2
- ERMARD
- ESCO2
- ESR1
- ESR2
- ESS2
- ETFA
- ETFB
- ETFDH
- ETHE1
- EVC
- EVC2
- EWSR1
- EXT1
- EXT2
- EXTL3
- EYA1
- EYS
- EZH2
Nom du gène
- F10
- F11
- F13A1
- F13B
- F2
- F5
- F7
- FA2H
- FAH
- FAM111A
- FAM149B1
- FAM161A
- FAM20A
- FAM20C
- FAN1
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FAR1
- FARS2
- FARSB
- FAS
- FASLG
- FAT4
- FBLN1
- FBLN5
- FBN1
- FBP1
- FBXL4
- FBXO43
- FBXO7
- FBXW11
- FBXW7
- FCGR2A
- FCGR2B
- FDFT1
- FDXR
- FERMT1
- FEZF1
- FGA
- FGB
- FGD1
- FGF10
- FGF13
- FGF17
- FGF20
- FGF23
- FGF8
- FGFR1
- FGFR2
- FGFR3
- FGFRL1
- FGG
- FH
- FIBP
- FIG4
- FIGLA
- FIP1L1
- FITM2
- FKBP14
- FKBP6
- FKRP
- FKTN
- FLAD1
- FLCN
- FLG
- FLI1
- FLII
- FLNA
- FLNB
- FLRT3
- FLT1
- FLT4
- FLVCR1
- FMO3
- FN1
- FOCAD
- FOS
- FOXA2
- FOXC1
- FOXC2
- FOXE1
- FOXF1
- FOXH1
- FOXI1
- FOXJ1
- FOXL2
- FOXP1
- FOXP3
- FOXRED1
- FRAS1
- FREM1
- FREM2
- FRMD5
- FSCN2
- FSHB
- FSHR
- FSIP2
- FTCD
- FTO
- FUCA1
- FUS
- FUT8
- FUZ
- FXR1
- FXYD2
- FZD2
Nom du gène
- G6PC1
- G6PC3
- G6PD
- GAA
- GABRA1
- GABRA3
- GABRB3
- GABRD
- GABRG2
- GAD1
- GALC
- GALE
- GALK1
- GALNS
- GALNT2
- GALNT3
- GALT
- GANAB
- GAPVD1
- GAS1
- GAS2L2
- GAS8
- GATA1
- GATA3
- GATA4
- GATA5
- GATA6
- GATAD2B
- GATM
- GBA1
- GBA2
- GBE1
- GCDH
- GCK
- GCLC
- GCM2
- GCNA
- GCSH
- GDF1
- GDF2
- GDF3
- GDF6
- GDF9
- GEMIN4
- GFAP
- GFM2
- GFRA1
- GGN
- GGPS1
- GHR
- GIGYF2
- GJA1
- GJA5
- GJB2
- GJB3
- GJB4
- GJC2
- GK
- GLA
- GLB1
- GLDC
- GLE1
- GLI1
- GLI2
- GLI3
- GLIS2
- GLIS3
- GLMN
- GLUD1
- GLUD2
- GLYCTK
- GMNN
- GMPPB
- GNA11
- GNAO1
- GNAS
- GNAS-AS1
- GNB1
- GNB2
- GNE
- GNPTAB
- GNPTG
- GNRH1
- GNRHR
- GNS
- GON7
- GP1BA
- GP1BB
- GP6
- GP9
- GPC3
- GPC4
- GPC6
- GPHN
- GPKOW
- GPR101
- GPR161
- GPR35
- GRB10
- GREB1L
- GREM1
- GRHPR
- GRIA2
- GRIA3
- GRIN1
- GRIN2B
- GRIP1
- GRM7
- GSC
- GSN
- GSS
- GSTM3
- GTF2E2
- GTF2H5
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GUCA1B
- GUCY1A1
- GUCY2D
- GUSB
- GYS2
Nom du gène
- H1-4
- H19
- H4C11
- H4C3
- H4C5
- H4C9
- H6PD
- HAAO
- HABP2
- HACE1
- HADH
- HADHA
- HADHB
- HAL
- HAMP
- HARS2
- HBA1
- HBA2
- HBB
- HCCS
- HCFC1
- HDAC4
- HDAC8
- HELLPAR
- HERC1
- HERC2
- HES7
- HESX1
- HEXB
- HFE
- HFM1
- HGD
- HGSNAT
- HHAT
- HIBCH
- HIC1
- HID1
- HIRA
- HJV
- HLA-B
- HLA-DPA1
- HLA-DPB1
- HLA-DQA1
- HLA-DQB1
- HLA-DRB1
- HLCS
- HMBS
- HMGA2
- HMGCL
- HMOX1
- HNF1A
- HNF1B
- HNF4A
- HNRNPA1
- HNRNPA2B1
- HNRNPH1
- HNRNPK
- HNRNPR
- HNRNPU
- HOGA1
- HOXA13
- HOXD13
- HPD
- HPDL
- HPRT1
- HPS1
- HPS4
- HPS5
- HPSE2
- HRAS
- HS2ST1
- HS6ST1
- HS6ST2
- HSD11B2
- HSD17B10
- HSD17B3
- HSD17B4
- HSD3B2
- HSF2BP
- HSFY1
- HSPA9
- HSPD1
- HSPG2
- HTRA1
- HTRA2
- HUWE1
- HYLS1
- HYMAI
Nom du gène
- IARS1
- IDH1
- IDH2
- IDH3A
- IDH3B
- IDUA
- IER3IP1
- IFIH1
- IFNG
- IFNGR1
- IFT122
- IFT140
- IFT172
- IFT27
- IFT43
- IFT57
- IFT74
- IFT80
- IFT81
- IFT88
- IGBP1
- IGF1
- IGF2
- IGHG2
- IGHMBP2
- IGKC
- IKZF1
- IL10
- IL10RB
- IL12A
- IL12A-AS1
- IL17F
- IL17RA
- IL17RC
- IL17RD
- IL1B
- IL1RAPL1
- IL1RN
- IL23R
- IL2RB
- IL2RG
- IL6
- IL7R
- IMPDH1
- IMPG1
- IMPG2
- INF2
- INPP5E
- INPP5K
- INPPL1
- INS
- INSL3
- INSR
- INTS1
- INTU
- INVS
- IPO8
- IPW
- IQCB1
- IQSEC2
- IRAK1
- IRF1
- IRF2BP2
- IRF4
- IRF5
- IRF6
- IRX5
- ISCU
- ISL1
- ITGA2
- ITGA2B
- ITGA3
- ITGA6
- ITGA8
- ITGB3
- ITGB4
- ITGB6
- ITPR3
- IVD
Nom du gène
- KANK2
- KANSL1
- KARS1
- KAT5
- KAT6A
- KAT6B
- KATNIP
- KCNA1
- KCNAB2
- KCNC3
- KCND3
- KCNE5
- KCNH1
- KCNJ1
- KCNJ10
- KCNJ11
- KCNJ16
- KCNJ18
- KCNJ2
- KCNJ5
- KCNJ6
- KCNN3
- KCNN4
- KCNQ1
- KCNQ1OT1
- KCNT1
- KCTD1
- KDM1A
- KDM3B
- KDM5B
- KDM5C
- KDM5D
- KDM6A
- KDM6B
- KDR
- KDSR
- KEAP1
- KHK
- KIAA0586
- KIAA0753
- KIAA1549
- KIF14
- KIF1A
- KIF1B
- KIF23
- KIF5A
- KIF7
- KIFBP
- KIRREL1
- KISS1
- KISS1R
- KIT
- KITLG
- KIZ
- KL
- KLF1
- KLF11
- KLF6
- KLHL10
- KLHL15
- KLHL40
- KLHL41
- KLHL7
- KLLN
- KLRC4
- KMT2A
- KMT2B
- KMT2C
- KMT2D
- KMT2E
- KMT5B
- KNL1
- KNSTRN
- KPNA3
- KRAS
- KRT17
- KRT18
- KRT5
- KY
- KYNU
Nom du gène
- L2HGDH
- LAGE3
- LAMA3
- LAMA5
- LAMB2
- LAMB3
- LAMC2
- LARGE1
- LARP7
- LARS2
- LAS1L
- LCAT
- LDHA
- LDHD
- LDLR
- LDLRAP1
- LEMD3
- LEP
- LEPR
- LETM1
- LFNG
- LGR4
- LHB
- LHCGR
- LHX1
- LHX3
- LHX4
- LIG1
- LIG3
- LIG4
- LIMK1
- LIN28B
- LIPE
- LIPN
- LIPT1
- LMAN1
- LMBR1
- LMBRD1
- LMNA
- LMNB1
- LMNB2
- LMO1
- LMOD1
- LMOD3
- LMX1B
- LONP1
- LPIN1
- LPIN2
- LRAT
- LRIG2
- LRP2
- LRP4
- LRP5
- LRPPRC
- LRRC56
- LRRK2
- LSM11
- LSS
- LTBP1
- LTBP4
- LUZP1
- LYRM4
- LYZ
- LZTFL1
- LZTR1
Nom du gène
- M1AP
- MAB21L1
- MAB21L2
- MACF1
- MAD1L1
- MAD2L2
- MADD
- MAF
- MAFB
- MAGED2
- MAGEL2
- MAGI2
- MAK
- MAMLD1
- MAN2B1
- MANBA
- MAP2K1
- MAP2K2
- MAP3K1
- MAP3K7
- MAPK1
- MAPKAPK5
- MAPKBP1
- MAPRE2
- MAPT
- MARS1
- MARS2
- MASP1
- MAX
- MBD4
- MBD5
- MBTPS2
- MC2R
- MCC
- MCCC1
- MCCC2
- MCEE
- MCFD2
- MCIDAS
- MCM3AP
- MCM5
- MCM7
- MCM8
- MCM9
- MCPH1
- MCTP2
- MDFIC
- MDH2
- MDM2
- MECOM
- MECP2
- MED12
- MED12L
- MED13L
- MED25
- MED27
- MEFV
- MEG3
- MEGF8
- MEI1
- MEIOB
- MEN1
- MEOX1
- MERTK
- MESP2
- MET
- METTL23
- METTL27
- METTL5
- MFSD2A
- MGME1
- MIA3
- MICOS13
- MID1
- MIF
- MINPP1
- MITF
- MKKS
- MKRN3
- MKS1
- MLH1
- MLH3
- MLIP
- MLXIPL
- MLYCD
- MMAA
- MMAB
- MMACHC
- MMADHC
- MME
- MMP1
- MMP14
- MMP2
- MMP23B
- MMUT
- MNS1
- MNX1
- MOCOS
- MOCS1
- MOCS2
- MOGS
- MORC2
- MOV10L1
- MPC1
- MPDU1
- MPI
- MPLKIP
- MPZ
- MRAP
- MRAS
- MRE11
- MRPL3
- MRPS2
- MRPS22
- MRPS28
- MRPS34
- MRPS7
- MSH2
- MSH3
- MSH4
- MSH5
- MSH6
- MSN
- MST1
- MSTO1
- MSX1
- MT-ATP6
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND5
- MT-ND6
- MT-TE
- MT-TF
- MT-TH
- MT-TK
- MT-TL1
- MT-TN
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TT
- MT-TV
- MT-TW
- MTFMT
- MTHFR
- MTM1
- MTMR14
- MTOR
- MTR
- MTRR
- MTX2
- MUC1
- MUSK
- MUTYH
- MVK
- MXI1
- MYC
- MYCN
- MYD88
- MYF6
- MYH11
- MYH3
- MYH9
- MYL11
- MYL9
- MYLK
- MYMK
- MYMX
- MYO1E
- MYO1H
- MYO5B
- MYOCD
- MYOD1
- MYRF
Nom du gène
- NAA10
- NAB2
- NABP1
- NADK2
- NADSYN1
- NAGA
- NAGLU
- NALCN
- NANOS1
- NARS2
- NBEAL2
- NBN
- NCAPD3
- NCAPG2
- NDN
- NDNF
- NDP
- NDUFA1
- NDUFA11
- NDUFA6
- NDUFA8
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB7
- NDUFB8
- NDUFB9
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NECTIN1
- NEDD4L
- NEFL
- NEK1
- NEK10
- NEK2
- NEK8
- NELFA
- NEU1
- NEUROD1
- NEUROD2
- NEXMIF
- NF2
- NFIA
- NFIB
- NFIX
- NFS1
- NFU1
- NGLY1
- NHERF1
- NHP2
- NIN
- NIPA1
- NIPAL4
- NIPBL
- NKAP
- NKX2-1
- NKX2-5
- NKX2-6
- NLRP3
- NME8
- NNT
- NOBOX
- NOD2
- NODAL
- NONO
- NOP10
- NOS1AP
- NOS3
- NOTCH3
- NPAP1
- NPHP1
- NPHP3
- NPHP4
- NPHS1
- NPHS2
- NPM1
- NR0B1
- NR2E3
- NR2F2
- NR3C1
- NR4A2
- NR5A1
- NRAS
- NRIP1
- NRL
- NSD1
- NSD2
- NSDHL
- NSMCE2
- NSMF
- NSUN2
- NT5C3A
- NTHL1
- NTN1
- NTRK1
- NUBPL
- NUMA1
- NUP107
- NUP133
- NUP160
- NUP205
- NUP37
- NUP85
- NUP88
- NUP93
- NXN
Nom du gène
Nom du gène
- P4HA2
- PACS1
- PACS2
- PADI6
- PAFAH1B1
- PAH
- PAICS
- PAK2
- PALB2
- PALLD
- PANK2
- PANX1
- PAPSS2
- PARK7
- PARN
- PATL2
- PAX1
- PAX2
- PAX3
- PAX4
- PAX6
- PAX7
- PBRM1
- PBX1
- PC
- PCARE
- PCBD1
- PCCA
- PCCB
- PCK1
- PCK2
- PCNT
- PCSK1
- PCSK9
- PDCD1
- PDCD6IP
- PDE11A
- PDE4D
- PDE6A
- PDE6B
- PDE6D
- PDE6G
- PDE8B
- PDGFB
- PDGFRB
- PDGFRL
- PDHA1
- PDHA2
- PDP1
- PDPN
- PDSS2
- PDX1
- PEPD
- PET100
- PET117
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PFKM
- PGAM2
- PGAP2
- PGAP3
- PGK1
- PGM1
- PGM3
- PGR
- PHACTR1
- PHC1
- PHEX
- PHF21A
- PHF6
- PHF8
- PHGDH
- PHIP
- PHKA1
- PHKA2
- PHKB
- PHKG2
- PHYH
- PHYKPL
- PI4KA
- PIDD1
- PIEZO1
- PIEZO2
- PIGA
- PIGB
- PIGG
- PIGL
- PIGN
- PIGO
- PIGP
- PIGQ
- PIGS
- PIGT
- PIGV
- PIGW
- PIGY
- PIK3C2A
- PIK3CA
- PIK3CD
- PIK3CG
- PIK3R2
- PIK3R5
- PINK1
- PITX2
- PKD1
- PKD2
- PKDCC
- PKHD1
- PKP1
- PLA2G2A
- PLA2G6
- PLAG1
- PLAGL1
- PLAU
- PLCD1
- PLCE1
- PLCH1
- PLCZ1
- PLD1
- PLEC
- PLG
- PLIN1
- PLOD1
- PLOD2
- PLP1
- PLVAP
- PLXNA1
- PLXND1
- PMFBP1
- PML
- PMM2
- PMP22
- PMS1
- PMS2
- PNKP
- PNLDC1
- PNP
- PNPLA2
- PNPLA6
- PNPT1
- POC1A
- PODXL
- POF1B
- POFUT1
- POGLUT1
- POGZ
- POLA1
- POLD1
- POLE
- POLG
- POLG2
- POLR1B
- POLR1C
- POLR1D
- POLR3A
- POLR3B
- POLR3GL
- POLR3H
- POLR3K
- POLRMT
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- POR
- PORCN
- POT1
- POU1F1
- POU3F3
- POU3F4
- POU6F2
- PPARG
- PPFIBP1
- PPM1B
- PPOX
- PPP1CB
- PPP1R12A
- PPP1R15B
- PPP2R1A
- PPP2R3C
- PPP3CA
- PQBP1
- PRCC
- PRCD
- PRDM13
- PRDM16
- PRDM8
- PRDX1
- PREPL
- PRF1
- PRIM1
- PRKACA
- PRKACB
- PRKACG
- PRKAG2
- PRKAR1A
- PRKAR1B
- PRKCD
- PRKCSH
- PRKCZ
- PRKDC
- PRKN
- PRLR
- PRMT7
- PRNP
- PRODH
- PROK2
- PROKR2
- PROM1
- PROP1
- PRORP
- PRPF3
- PRPF31
- PRPF4
- PRPF6
- PRPF8
- PRPH2
- PRPS1
- PRRX1
- PRTN3
- PRY
- PRY2
- PSAP
- PSENEN
- PSMB8
- PSMC1
- PSMC3IP
- PSMD12
- PSPH
- PSTPIP1
- PTCH1
- PTCH2
- PTDSS1
- PTEN
- PTH
- PTH1R
- PTPN11
- PTPN12
- PTPN22
- PTPRF
- PTPRJ
- PTPRO
- PTRH2
- PUF60
- PUS3
- PWAR1
- PWRN1
- PYCR1
- PYCR2
- PYGL
- PYGM
Nom du gène
Nom du gène
- RAB18
- RAB23
- RAB3GAP1
- RAB3GAP2
- RABL3
- RAC1
- RAC2
- RAC3
- RAD21
- RAD50
- RAD51
- RAD51C
- RAD51D
- RAD54B
- RAF1
- RAG1
- RAG2
- RAI1
- RALGAPA1
- RAPSN
- RARA
- RARB
- RASA1
- RASA2
- RASGRP1
- RB1
- RBBP8
- RBCK1
- RBM10
- RBM28
- RBMX
- RBMY1A1
- RBP3
- RCBTB1
- RDH12
- REC114
- RECQL4
- REEP1
- REEP2
- REEP6
- RELA
- REN
- RERE
- REST
- RET
- RETREG1
- REV3L
- RFC2
- RFWD3
- RFX5
- RFXANK
- RFXAP
- RGR
- RHO
- RIN2
- RIPK4
- RIPPLY2
- RIT1
- RLBP1
- RLIM
- RMND1
- RMRP
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASEL
- RNF113A
- RNF125
- RNF135
- RNF139
- RNF168
- RNF170
- RNF212
- RNF216
- RNF43
- RNU12
- RNU4ATAC
- RNU7-1
- ROBO1
- ROBO2
- ROM1
- ROR2
- RORA
- RP1
- RP1L1
- RP2
- RP9
- RPE65
- RPGR
- RPGRIP1
- RPGRIP1L
- RPIA
- RPL10
- RPL10L
- RPL11
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL5
- RPS10
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS4Y2
- RPS6KA3
- RPS7
- RRAS
- RRAS2
- RREB1
- RRM2B
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- RSPO1
- RSPO2
- RSRC1
- RTEL1
- RTL1
- RTN2
- RTTN
- RXYLT1
- RYR1
Nom du gène
- SAA1
- SACS
- SAG
- SALL1
- SALL4
- SAMD9
- SAMHD1
- SARDH
- SARS2
- SASS6
- SATB1
- SATB2
- SBDS
- SBF1
- SC5D
- SCAPER
- SCARB2
- SCARF2
- SCN1B
- SCN2A
- SCN9A
- SCNN1A
- SCNN1B
- SCNN1G
- SCO1
- SCO2
- SCP2
- SCUBE3
- SCYL2
- SDCCAG8
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHC
- SDHD
- SDR9C7
- SEC23A
- SEC23B
- SEC24C
- SEC61A1
- SEC63
- SEMA3A
- SEMA3E
- SEMA4A
- SEMA4D
- SEPTIN12
- SERAC1
- SERPINA1
- SERPINA6
- SERPINE1
- SERPINF2
- SERPINH1
- SETBP1
- SETD1A
- SETD2
- SETD5
- SETX
- SF3B2
- SF3B4
- SGCB
- SGPL1
- SGSH
- SH2B1
- SHANK3
- SHH
- SHOC1
- SHOC2
- SHPK
- SI
- SIAH1
- SIGMAR1
- SIK1
- SIL1
- SIM1
- SIN3A
- SIX1
- SIX2
- SIX3
- SIX5
- SIX6
- SKI
- SKIC2
- SKIC3
- SLC11A1
- SLC12A1
- SLC12A3
- SLC13A3
- SLC16A1
- SLC16A12
- SLC16A2
- SLC17A5
- SLC18A2
- SLC18A3
- SLC19A2
- SLC1A1
- SLC1A2
- SLC1A4
- SLC20A2
- SLC22A12
- SLC22A5
- SLC25A1
- SLC25A10
- SLC25A11
- SLC25A13
- SLC25A15
- SLC25A19
- SLC25A20
- SLC25A21
- SLC25A22
- SLC25A24
- SLC25A4
- SLC26A1
- SLC26A2
- SLC26A4
- SLC26A8
- SLC26A9
- SLC28A1
- SLC29A3
- SLC2A1
- SLC2A2
- SLC2A3
- SLC2A9
- SLC30A9
- SLC34A1
- SLC34A2
- SLC34A3
- SLC35A1
- SLC35A2
- SLC35C1
- SLC35D1
- SLC36A2
- SLC37A4
- SLC39A4
- SLC3A1
- SLC40A1
- SLC41A1
- SLC44A1
- SLC46A1
- SLC4A1
- SLC4A4
- SLC52A1
- SLC52A2
- SLC5A1
- SLC5A2
- SLC6A14
- SLC6A17
- SLC6A18
- SLC6A19
- SLC6A2
- SLC6A20
- SLC7A14
- SLC7A7
- SLC7A9
- SLC9A3
- SLC9A6
- SLCO1B1
- SLCO1B3
- SLCO2A1
- SLFN14
- SLITRK6
- SLX4
- SMAD3
- SMAD4
- SMARCA2
- SMARCA4
- SMARCAL1
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCE1
- SMC1A
- SMC3
- SMCHD1
- SMG8
- SMO
- SMOC1
- SMS
- SNAI2
- SNAP29
- SNCA
- SNCAIP
- SNORD115-1
- SNORD116-1
- SNRNP200
- SNRPB
- SNRPN
- SNX14
- SOCS1
- SOHLH1
- SON
- SOS1
- SOS2
- SOST
- SOX10
- SOX11
- SOX17
- SOX18
- SOX2
- SOX3
- SOX4
- SOX5
- SOX9
- SP110
- SPAG1
- SPAG17
- SPART
- SPAST
- SPATA16
- SPATA7
- SPECC1L
- SPEF2
- SPEN
- SPG11
- SPG7
- SPIDR
- SPINK2
- SPINK5
- SPINT2
- SPOP
- SPP1
- SPRED1
- SPRED2
- SPRY2
- SPRY4
- SPTBN1
- SPTLC1
- SQSTM1
- SRA1
- SRC
- SRCAP
- SRD5A2
- SREBF1
- SRP54
- SRY
- SSR4
- STAC3
- STAG1
- STAG2
- STAG3
- STAMBP
- STAR
- STAT1
- STAT2
- STAT3
- STAT4
- STAT5B
- STAT6
- STEAP3
- STIL
- STK11
- STK36
- STOX1
- STRA6
- STRADA
- STRC
- STS
- STT3A
- STT3B
- STUB1
- STX11
- STX16
- STX1A
- STX3
- STXBP1
- STXBP2
- SUCLA2
- SUCLG1
- SUFU
- SUGCT
- SULT2B1
- SUMF1
- SUN5
- SUOX
- SURF1
- SUZ12
- SYCE1
- SYCP2
- SYCP3
- SYK
- SYNE1
- SYNGAP1
- SYNJ1
Nom du gène
- TAC3
- TACR3
- TAF13
- TAF4B
- TAF6
- TAFAZZIN
- TALDO1
- TANGO2
- TAOK1
- TAPT1
- TARS1
- TASP1
- TAT
- TBC1D20
- TBC1D24
- TBC1D7
- TBC1D8B
- TBCD
- TBCE
- TBCK
- TBL1X
- TBL1XR1
- TBL2
- TBX1
- TBX15
- TBX18
- TBX22
- TBX3
- TBX4
- TBX6
- TBXT
- TCF12
- TCF4
- TCN2
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TDGF1
- TDO2
- TDRD9
- TELO2
- TERB1
- TERB2
- TERC
- TERT
- TEX11
- TEX14
- TEX15
- TFAP2A
- TFE3
- TFG
- TFR2
- TGDS
- TGFB1
- TGFBR1
- TGFBR2
- TGIF1
- TGM1
- THBD
- THOC2
- THOC6
- TIAM1
- TIMM50
- TIMMDC1
- TINF2
- TK2
- TKT
- TLE6
- TLR2
- TLR4
- TMCO1
- TMEM107
- TMEM126B
- TMEM127
- TMEM138
- TMEM165
- TMEM216
- TMEM218
- TMEM231
- TMEM237
- TMEM260
- TMEM270
- TMEM63A
- TMEM67
- TMEM70
- TMEM94
- TNFAIP3
- TNFRSF11A
- TNFRSF11B
- TNFRSF1A
- TNRC6B
- TNXB
- TOE1
- TOGARAM1
- TOM1
- TONSL
- TOP2A
- TOPORS
- TOR1A
- TP53
- TP53RK
- TP63
- TPK1
- TPM2
- TPRKB
- TRAF3IP1
- TRAF3IP2
- TRAF7
- TRAIP
- TRAPPC10
- TRAPPC12
- TRAPPC14
- TREX1
- TRIM28
- TRIM32
- TRIM37
- TRIM8
- TRIO
- TRIP11
- TRIP13
- TRIP4
- TRMT10A
- TRMT5
- TRMU
- TRNT1
- TRPC6
- TRPS1
- TRPV4
- TRPV6
- TRRAP
- TSC1
- TSC2
- TSGA10
- TSHB
- TSPY1
- TSPYL1
- TSR2
- TTC12
- TTC21A
- TTC21B
- TTC26
- TTC29
- TTC5
- TTC8
- TTI2
- TTR
- TUB
- TUBA1A
- TUBB
- TUBB8
- TULP1
- TULP3
- TWIST1
- TWIST2
- TWNK
- TXNDC15
- TXNL4A
- TXNRD2
- TYMP
- TYMS
- TYR
- TYROBP
Nom du gène
Nom du gène
Nom du gène
Division Internationale
Lundi-Vendredi : 8h30 - 18h30
Tél : +33 4 72 80 23 85
Contact par email
Tél : +33 4 72 80 23 85
Contact par email
