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Growth abnormality
Code Aire thérapeutique (HPO) :
HP:0001507Panel «Growth abnormality» :
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Code pathologie
Nom de la pathologie
- ORPHA:276413 10q22.3q23.3 microdeletion syndrome
- ORPHA:300305 11p15.4 microduplication syndrome
- ORPHA:444002 11q22.2q22.3 microdeletion syndrome
- ORPHA:94063 12q14 microdeletion syndrome
- ORPHA:412035 13q12.3 microdeletion syndrome
- ORPHA:264200 14q22q23 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:238446 15q11q13 microduplication syndrome
- ORPHA:199318 15q13.3 microdeletion syndrome
- ORPHA:261190 15q14 microdeletion syndrome
- ORPHA:94065 15q24 microdeletion syndrome
- ORPHA:261211 16p11.2p12.2 microdeletion syndrome
- ORPHA:485405 16p12.1p12.3 triplication syndrome
- ORPHA:261236 16p13.11 microdeletion syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:1713 17p11.2 microduplication 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:217340 17q21.31 microduplication 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:293948 1p21.3 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
- OMIM:616034 2,4-Dienoyl-Coa reductase deficiency
- ORPHA:261295 20p12.3 microdeletion syndrome
- ORPHA:313781 20p13 microdeletion syndrome
- ORPHA:444051 20q11.2 microdeletion syndrome
- ORPHA:363659 20q11.2 microduplication syndrome
- ORPHA:261311 20q13.33 microdeletion syndrome
- ORPHA:261323 21q22.11q22.12 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:1617 2q24 microdeletion syndrome
- ORPHA:251014 2q31.1 microdeletion syndrome
- ORPHA:251019 2q32q33 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- OMIM:610198 3-@methylglutaconic aciduria, type V
- ORPHA:20 3-hydroxy-3-methylglutaric aciduria
- 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:612921 3-M syndrome 2
- OMIM:614205 3-M syndrome 3
- 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: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:617698 3-methylglutaconic aciduria, type IX
- 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:397695 3q27.3 microdeletion syndrome
- ORPHA:65286 3q29 microdeletion syndrome
- ORPHA:251038 3q29 microduplication syndrome
- ORPHA:8 47,XYY syndrome
- ORPHA:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:99329 48,XYYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- ORPHA:261534 49,XXXYY syndrome
- ORPHA:99330 49,XYYYY syndrome
- ORPHA:289494 4H leukodystrophy
- ORPHA:238750 4q21 microdeletion syndrome
- ORPHA:228415 5q35 microduplication syndrome
- ORPHA:75857 6q terminal deletion syndrome
- ORPHA:171829 6q16 microdeletion syndrome
- ORPHA:251056 6q25 microdeletion syndrome
- ORPHA:96121 7q11.23 microduplication syndrome
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:251071 8p23.1 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
Code pathologie
Nom de la pathologie
- OMIM:100050 Aarskog syndrome, autosomal dominant
- OMIM:305400 Aarskog-Scott syndrome
- ORPHA:915 Aarskog-Scott syndrome
- OMIM:600501 ABCD syndrome
- OMIM:605552 Abdominal obesity-metabolic syndrome 1
- OMIM:615812 Abdominal obesity-metabolic syndrome 3
- OMIM:618620 Abdominal obesity-metabolic syndrome 4
- OMIM:605572 Abdominal obesity-metabolic syndrome quantitative trait locus 2
- ORPHA:14 Abetalipoproteinemia
- ORPHA:920 Ablepharon macrostomia syndrome
- ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta
- ORPHA:921 Abruzzo-Erickson syndrome
- ORPHA:980 Absence of the pulmonary artery
- OMIM:619959 ACCES syndrome
- OMIM:613933 Acetyl-CoA carboxylase deficiency
- OMIM:231550 Achalasia-Addisonianism-Alacrima syndrome
- ORPHA:929 Achalasia-microcephaly syndrome
- ORPHA:932 Achondrogenesis
- ORPHA:93299 Achondrogenesis type 1A
- ORPHA:93298 Achondrogenesis type 1B
- ORPHA:93296 Achondrogenesis type 2
- OMIM:200600 Achondrogenesis, type IA
- OMIM:600972 Achondrogenesis, type IB
- OMIM:200610 Achondrogenesis, type II
- OMIM:100800 Achondroplasia
- ORPHA:15 Achondroplasia
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- OMIM:615961 Acid-labile subunit, deficiency of
- ORPHA:95626 Acquired central diabetes insipidus
- ORPHA:2221 Acquired hypertrichosis lanuginosa
- ORPHA:958 Acro-renal-mandibular syndrome
- ORPHA:959 Acro-renal-ocular syndrome
- OMIM:200990 Acrocallosal syndrome
- ORPHA:36 Acrocallosal syndrome
- OMIM:607778 Acrocapitofemoral dysplasia
- ORPHA:63446 Acrocapitofemoral dysplasia
- ORPHA:2008 Acrocardiofacial syndrome
- OMIM:201050 Acrocraniofacial dysostosis
- ORPHA:949 Acrocraniofacial dysostosis
- ORPHA:37 Acrodermatitis enteropathica
- 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:201170 Acrofacial dysostosis syndrome of rodriguez
- OMIM:101805 Acrofacial dysostosis, Catania type
- ORPHA:1786 Acrofacial dysostosis, Catania type
- OMIM:616462 Acrofacial dysostosis, Cincinnati type
- ORPHA:1787 Acrofacial dysostosis, Palagonia type
- OMIM:601829 Acrofacial dysostosis, Palagonia type
- ORPHA:1788 Acrofacial dysostosis, Rodríguez type
- ORPHA:952 Acrofacial dysostosis, Weyers type
- ORPHA:1784 Acrofrontofacionasal dysostosis
- OMIM:201180 Acrofrontofacionasal dysostosis 1
- OMIM:239710 Acrofrontofacionasal dysostosis 2
- ORPHA:2500 Acrogeria
- OMIM:102100 Acromegaloid changes, cutis verticis gyrata, and corneal leukoma
- OMIM:102150 Acromegaloid facial appearance syndrome
- ORPHA:963 Acromegaly
- OMIM:200700 Acromesomelic dysplasia 2A
- OMIM:619636 Acromesomelic dysplasia 4
- OMIM:609441 Acromesomelic dysplasia, Demirhan type
- ORPHA:2098 Acromesomelic dysplasia, Grebe type
- ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type
- OMIM:201250 Acromesomelic dysplasia, Hunter-Thompson type
- ORPHA:40 Acromesomelic dysplasia, Maroteaux type
- OMIM:602875 Acromesomelic dysplasia, Maroteaux type
- ORPHA:969 Acromicric dysplasia
- OMIM:102370 Acromicric dysplasia
- ORPHA:2980 Acrootoocular syndrome
- OMIM:200980 Acrorenal-Mandibular syndrome
- OMIM:219080 ACTH-independent macronodular adrenal hyperplasia
- OMIM:615954 ACTH-independent macronodular adrenal hyperplasia 2
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:517 Acute myelomonocytic leukemia
- ORPHA:520 Acute promyelocytic leukemia
- ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency
- OMIM:201470 Acyl-Coa dehydrogenase, short-chain, deficiency of
- ORPHA:974 Adams-Oliver syndrome
- ORPHA:85138 Addison disease
- ORPHA:99976 Adenocarcinoma of the esophagus
- OMIM:103050 Adenylosuccinase deficiency
- OMIM:103200 Adiposis dolorosa
- ORPHA:36397 Adiposis dolorosa
- ORPHA:404448 ADNP syndrome
- OMIM:202010 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
- OMIM:300200 Adrenal hypoplasia, congenital
- OMIM:202155 Adrenal hypoplasia, Cytomegalic type
- ORPHA:1501 Adrenocortical carcinoma
- ORPHA:977 Adrenomyodystrophy
- ORPHA:3385 African trypanosomiasis
- OMIM:601495 Agammaglobulinemia 1, autosomal recessive
- OMIM:613501 Agammaglobulinemia 3, autosomal recessive
- OMIM:619824 Agammaglobulinemia 8B, autosomal recessive
- OMIM:619693 Agammaglobulinemia 9, autosomal recessive
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- OMIM:613623 Agenesis of the corpus callosum and congenital lymphedema
- ORPHA:98850 Aggressive systemic mastocytosis
- ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- ORPHA:50 Aicardi syndrome
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:610333 Aicardi-Goutieres syndrome 4
- OMIM:615010 Aicardi-Goutieres syndrome 6
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619487 Aicardi-Goutieres syndrome 9
- ORPHA:85443 AL amyloidosis
- OMIM:617694 Al Kaissi syndrome
- 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
- ORPHA:319671 Alazami syndrome
- OMIM:615071 Alazami syndrome
- OMIM:617126 Alazami-Yuan syndrome
- ORPHA:53 Albers-Schönberg osteopetrosis
- ORPHA:58 Alexander disease
- ORPHA:363717 Alexander disease type I
- ORPHA:280071 ALG11-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:324422 ALG13-CDG
- ORPHA:79320 ALG6-CDG
- ORPHA:79325 ALG8-CDG
- ORPHA:79328 ALG9-CDG
- OMIM:203500 Alkaptonuria
- ORPHA:59 Allan-Herndon-Dudley syndrome
- ORPHA:1164 Allergic bronchopulmonary aspergillosis
- ORPHA:93925 Alobar holoprosencephaly
- ORPHA:1006 Alopecia antibody deficiency
- OMIM:612079 Alopecia, neurologic defects, and endocrinopathy syndrome
- OMIM:203550 Alopecia-Contractures-Dwarfism mental retardation syndrome
- ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome
- ORPHA:2850 Alopecia-intellectual disability syndrome
- OMIM:203760 Alpha-2-deficient collagen disease
- ORPHA:100025 Alpha-heavy chain disease
- OMIM:248500 Alpha-mannosidosis
- ORPHA:309282 Alpha-mannosidosis, infantile form
- 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
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- ORPHA:2131 Alternating hemiplegia of childhood
- ORPHA:284 Alveolar echinococcosis
- OMIM:619268 Alzahrani-Kuwahara syndrome
- OMIM:619151 AMED syndrome, digenic
- ORPHA:1946 Amelocerebrohypohidrotic syndrome
- OMIM:204690 Amelogenesis imperfecta, type IG (enamel-renal syndrome)
- OMIM:204730 Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis
- OMIM:600325 Aminopterin syndrome sine aminopterin
- ORPHA:1908 Aminopterin/methotrexate embryofetopathy
- OMIM:300194 AMME complex
- ORPHA:67 Amoebiasis due to Entamoeba histolytica
- OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile
- OMIM:162100 Amyotrophy, hereditary neuralgic
- ORPHA:142 Anaplastic thyroid carcinoma
- OMIM:607095 Anauxetic dysplasia 1
- OMIM:617396 Anauxetic dysplasia 2
- OMIM:618853 Anauxetic dysplasia 3
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- ORPHA:37553 Andersen-Tawil syndrome
- ORPHA:754 Androgen insensitivity syndrome
- OMIM:300068 Androgen insensitivity syndrome
- ORPHA:157954 ANE syndrome
- OMIM:224120 Anemia, congenital dyserythropoietic, type Ia
- OMIM:615631 Anemia, congenital dyserythropoietic, type Ib
- OMIM:613673 Anemia, dyserythropoietic congenital, type IV
- OMIM:615234 Anemia, hypochromic microcytic, with iron overload 2
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia
- OMIM:105835 Angel-Shaped phalangoepiphyseal dysplasia
- OMIM:105830 Angelman syndrome
- ORPHA:72 Angelman syndrome
- ORPHA:411511 Angelman syndrome due to a point mutation
- ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13
- ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion
- OMIM:600419 Angiokeratoma corporis diffusum with arteriovenous fistulas
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:75508 Angioosteohypotrophic syndrome
- OMIM:106190 Anhidrosis, isolated, with normal sweat glands
- ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome
- ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome
- ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis
- OMIM:206800 Anonychia congenita
- ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome
- OMIM:601427 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
- ORPHA:51890 Anterior cutaneous nerve entrapment syndrome
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- OMIM:617168 Aortic aneurysm, familial thoracic 10
- OMIM:619825 Aortic aneurysm, familial thoracic 12
- OMIM:616166 Aortic aneurysm, familial thoracic 9
- ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- OMIM:101200 Apert syndrome
- OMIM:600384 Aphalangia, partial, with syndactyly and duplication of metatarsaliv
- ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- OMIM:218030 Apparent mineralocorticoid excess
- ORPHA:320 Apparent mineralocorticoid excess
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:1133 AREDYLD syndrome
- OMIM:207800 Argininemia
- OMIM:207900 Argininosuccinic aciduria
- ORPHA:23 Argininosuccinic aciduria
- OMIM:243910 Arima syndrome
- ORPHA:91 Aromatase deficiency
- OMIM:139300 Aromatase excess syndrome
- OMIM:208000 Arterial calcification, generalized, of infancy, 1
- OMIM:208060 Arteriosclerosis, severe juvenile
- ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome
- OMIM:601701 Arthrogryposis and ectodermal dysplasia
- OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type
- OMIM:618947 Arthrogryposis multiplex congenita 5
- ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome
- 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:601680 Arthrogryposis, distal, type 2B
- OMIM:618436 Arthrogryposis, distal, type 2B3
- OMIM:114300 Arthrogryposis, distal, type 3
- OMIM:108145 Arthrogryposis, distal, type 5
- OMIM:615065 Arthrogryposis, distal, type 5D
- OMIM:158300 Arthrogryposis, distal, type 7
- OMIM:617146 Arthrogryposis, distal, with impaired proprioception and touch
- OMIM:301815 Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- OMIM:301835 Arts syndrome
- OMIM:615574 Asparagine synthetase deficiency
- OMIM:208400 Aspartylglucosaminuria
- OMIM:611263 Asphyxiating thoracic dystrophy 2
- OMIM:613091 Asphyxiating thoracic dystrophy 3
- OMIM:208600 Asthma, short stature, and elevated iga
- ORPHA:85175 Astley-Kendall dysplasia
- OMIM:108450 Asymmetric short stature syndrome
- OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
- ORPHA:459033 Ataxia-oculomotor apraxia type 4
- ORPHA:1184 Ataxia-photosensitivity-short stature syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- ORPHA:251347 Ataxia-telangiectasia-like disorder
- OMIM:615919 Ataxia-Telangiectasia-Like disorder 2
- ORPHA:1190 Atelosteogenesis type I
- ORPHA:56304 Atelosteogenesis type II
- OMIM:108720 Atelosteogenesis, type I
- OMIM:108721 Atelosteogenesis, type III
- ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- ORPHA:95713 Athyreosis
- OMIM:300431 Atkin-Flaitz syndrome
- ORPHA:1193 Atkin-Flaitz syndrome
- ORPHA:1201 Atresia of small intestine
- ORPHA:99106 Atrial septal defect, ostium primum type
- ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- OMIM:600123 Atrioventricular septal defect with blepharophimosis and anal andradial defects
- ORPHA:85447 ATTRV30M amyloidosis
- ORPHA:3095 Atypical Rett syndrome
- ORPHA:79474 Atypical Werner syndrome
- OMIM:109000 AURICULOOSTEODYSPLASIA
- ORPHA:114 Auriculoosteodysplasia
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- OMIM:615952 Autoimmune disease, multisystem, infantile-onset, 1
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- OMIM:607271 Autoimmune lymphoproliferative syndrome, type IIB
- ORPHA:747 Autoimmune pulmonary alveolar proteinosis
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:616050 Autoinflammation with infantile enterocolitis
- OMIM:618999 Autoinflammation, immune dysregulation, and eosinophilia
- OMIM:617099 Autoinflammation, panniculitis, and dermatosis syndrome
- OMIM:301074 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- OMIM:619858 Autoinflammatory-pancytopenia syndrome
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:93304 Autosomal dominant brachyolmia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:312 Autosomal dominant epidermolytic ichthyosis
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency
- 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:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- ORPHA:93328 Autosomal dominant omodysplasia
- ORPHA:2514 Autosomal dominant primary microcephaly
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:3107 Autosomal dominant Robinow syndrome
- ORPHA:100984 Autosomal dominant spastic paraplegia type 3
- ORPHA:1797 Autosomal dominant spondylocostal dysostosis
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3
- ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome
- ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:90349 Autosomal recessive cutis laxa type 1
- ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type
- ORPHA:357058 Autosomal recessive cutis laxa type 2A
- ORPHA:2776 Autosomal recessive distal osteolysis syndrome
- ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy
- ORPHA:1974 Autosomal recessive faciodigitogenital syndrome
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex
- ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets
- ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA: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:2822 Autosomal recessive spastic paraplegia type 11
- ORPHA:101000 Autosomal recessive spastic paraplegia type 20
- ORPHA:101003 Autosomal recessive spastic paraplegia type 23
- ORPHA:319199 Autosomal recessive spastic paraplegia type 53
- ORPHA:320380 Autosomal recessive spastic paraplegia type 54
- ORPHA:401805 Autosomal recessive spastic paraplegia type 63
- ORPHA:401810 Autosomal recessive spastic paraplegia type 64
- ORPHA:447760 Autosomal recessive spastic paraplegia type 9B
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:250984 Autosomal recessive Stickler syndrome
- ORPHA:397946 Autosomal spastic paraplegia type 58
- OMIM:617383 Avascular necrosis of femoral head, primary, 2
- OMIM:109120 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
- ORPHA:782 Axenfeld-Rieger syndrome
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- ORPHA:168549 Axial spondylometaphyseal dysplasia
- ORPHA:1272 Aymé-Gripp syndrome
- OMIM:601088 Ayme-Gripp syndrome
Code pathologie
Nom de la pathologie
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:79332 B4GALT1-CDG
- ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:352577 Bainbridge-Ropers 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:210740 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:614583 Baraitser-Winter syndrome 2
- OMIM:619255 Baralle-Macken 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:615990 Bardet-Biedl syndrome 13
- 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:112 Bartter syndrome
- ORPHA:89938 Bartter syndrome type 4
- OMIM:601678 Bartter syndrome, type 1, antenatal
- OMIM:241200 Bartter syndrome, type 2
- OMIM:602522 Bartter syndrome, type 4A, neonatal, with sensorineural deafness
- OMIM:613090 Bartter syndrome, type 4B, neonatal, with sensorineural deafness
- OMIM:114100 Basal ganglia calcification, idiopathic, childhood-onset
- ORPHA:64755 Becker nevus syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:117 Behçet disease
- ORPHA:65682 Benign recurrent intrahepatic cholestasis
- OMIM:620076 Bent bone dysplasia syndrome 2
- OMIM:210050 Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
- ORPHA:134 Beta-ketothiolase deficiency
- ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria
- ORPHA:231214 Beta-thalassemia major
- OMIM:210350 Biemond syndrome II
- ORPHA:141333 Biemond syndrome type 2
- ORPHA:208447 Bilateral generalized polymicrogyria
- ORPHA:98889 Bilateral perisylvian polymicrogyria
- ORPHA:1980 Bilateral striopallidodentate calcinosis
- OMIM:613291 Bile acid malabsorption, primary
- OMIM:607765 Bile acid synthesis defect, congenital, 1
- OMIM:235555 Bile acid synthesis defect, congenital, 2
- OMIM:613812 Bile acid synthesis defect, congenital, 3
- OMIM:214950 Bile acid synthesis defect, congenital, 4
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- OMIM:617595 Birk-Landau-Perez syndrome
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:191800 Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:210745 Blepharophimosis with ptosis, syndactyly, and short stature
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- ORPHA:94086 Blue diaper syndrome
- OMIM:617885 Body mass index quantitative trait locus 19
- OMIM:618406 Body mass index quantitative trait locus 20
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- ORPHA:1842 Bone dysplasia, lethal Holmgren type
- OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness
- OMIM:617052 Bone marrow failure syndrome 3
- OMIM:618116 Bone marrow failure syndrome 4
- OMIM:618165 Bone marrow failure syndrome 5
- ORPHA:1261 Bonnemann-Meinecke-Reich syndrome
- ORPHA:1263 Boomerang dysplasia
- OMIM:112310 Boomerang dysplasia
- OMIM:301900 Borjeson-Forssman-Lehmann syndrome
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:619543 Boudin-Mortier syndrome
- OMIM:211180 Bowen-Conradi syndrome
- ORPHA:1270 Bowen-Conradi syndrome
- OMIM:112370 Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay
- OMIM:601353 Brachycephaly, deafness, cataract, microstomia, and mental retardation
- OMIM:617412 Brachycephaly, trichomegaly, and developmental delay
- OMIM:613342 Brachydactylous dwarfism, Mseleni type
- ORPHA:2619 Brachydactylous dwarfism, Mseleni type
- ORPHA:93388 Brachydactyly type A1
- ORPHA:93394 Brachydactyly type A4
- ORPHA:93384 Brachydactyly type C
- ORPHA:93387 Brachydactyly type E
- OMIM:610023 Brachydactyly, coloboma, and anterior segment dysgenesis
- OMIM:301940 Brachydactyly, Mononen type
- OMIM:112500 Brachydactyly, type A1
- OMIM:607004 Brachydactyly, type A1, B
- OMIM:615072 Brachydactyly, type A1, C
- OMIM:613627 Brachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation
- OMIM:112700 Brachydactyly, type A3
- OMIM:112800 Brachydactyly, type A4
- OMIM:112910 Brachydactyly, type A6
- OMIM:113100 Brachydactyly, type C
- OMIM:113300 Brachydactyly, type E
- OMIM:113301 Brachydactyly, type e, with atrial septal defect, type II
- OMIM:613382 Brachydactyly, type E2
- ORPHA:1276 Brachydactyly-arterial hypertension syndrome
- OMIM:113450 Brachydactyly-Distal symphalangism syndrome
- ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome
- OMIM:113477 Brachymorphism-Onychodysplasia-Dysphalangism syndrome
- ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome
- OMIM:612847 Brachyolmia 4 with mild epiphyseal and metaphyseal changes
- OMIM:271530 Brachyolmia type 1, Hobaek type
- OMIM:271630 Brachyolmia type 1, Toledo type
- OMIM:613678 Brachyolmia type 2
- OMIM:113500 Brachyolmia type 3
- ORPHA:93302 Brachyolmia, Maroteaux type
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- ORPHA:52047 Braddock syndrome
- OMIM:619980 Braddock-Carey syndrome 1
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- OMIM:614483 Brain small vessel disease 2
- ORPHA:209905 Brain-lung-thyroid syndrome
- OMIM:301950 Branchial arch syndrome, X-linked
- ORPHA:1297 Branchio-oculo-facial syndrome
- ORPHA:50815 Branchiogenic deafness syndrome
- OMIM:609166 Branchiogenic-deafness syndrome
- OMIM:113620 Branchiooculofacial syndrome
- ORPHA:85284 BRESEK syndrome
- OMIM:229200 Brittle cornea syndrome
- ORPHA:97287 Bronchial neuroendocrine tumor
- ORPHA:70589 Bronchopulmonary dysplasia
- ORPHA:1304 Brucellosis
- ORPHA:2771 Bruck syndrome
- OMIM:259450 Bruck syndrome 1
- OMIM:609220 Bruck syndrome 2
- OMIM:619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2
- ORPHA:131 Budd-Chiari syndrome
- OMIM:302000 Bullous dystrophy, hereditary Macular type
- ORPHA:703 Bullous pemphigoid
- ORPHA:1200 Burn-McKeown syndrome
- OMIM:608572 Burn-Mckeown syndrome
- ORPHA:1306 Buschke-Ollendorff syndrome
Code pathologie
Nom de la pathologie
- ORPHA:1308 C syndrome
- OMIM:211750 C syndrome
- ORPHA:135 CACH syndrome
- OMIM:126550 Calvarial doughnut lesions with bone fragility
- OMIM:211890 Campomelia, Cumming type
- OMIM:114290 Campomelic dysplasia
- ORPHA:140 Campomelic dysplasia
- ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1
- ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2
- OMIM:211910 Camptodactyly syndrome, guadalajara, type I
- OMIM:610474 Camptodactyly, tall stature, and hearing loss syndrome
- ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome
- OMIM:131300 Camurati-Engelmann disease
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:606631 Camurati-engelmann disease, type 2
- ORPHA:160148 Cap polyposis
- OMIM:613089 Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
- OMIM:237300 Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to
- ORPHA:70482 Carcinoma of esophagus
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- ORPHA:2872 Cardiocranial syndrome, Pfeiffer type
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:615279 Cardiofaciocutaneous syndrome 3
- OMIM:615280 Cardiofaciocutaneous syndrome 4
- OMIM:619123 Cardiofacioneurodevelopmental syndrome
- ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome
- OMIM:212135 Cardioskeletal syndrome, Kuwaiti type
- OMIM:157800 Cardiospondylocarpofacial syndrome
- ORPHA:3238 Cardiospondylocarpofacial syndrome
- ORPHA:1358 Carey-Fineman-Ziter syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- OMIM:619941 Carey-Fineman-Ziter syndrome 2
- ORPHA:1359 Carney complex
- OMIM:160980 Carney complex, type 1
- ORPHA:97286 Carney-Stratakis syndrome
- OMIM:212140 Carnitine deficiency, systemic primary
- ORPHA:53035 Caroli disease
- ORPHA:65759 Carpenter syndrome
- OMIM:201000 Carpenter syndrome 1
- OMIM:614976 Carpenter syndrome 2
- OMIM:250250 Cartilage-hair hypoplasia
- ORPHA:175 Cartilage-hair hypoplasia
- ORPHA:160 Castleman disease
- OMIM:115470 Cat eye syndrome
- ORPHA:195 Cat-eye syndrome
- OMIM:300619 Cataract, ataxia, short stature, and mental retardation
- OMIM:212540 Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
- ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome
- ORPHA:1368 Cataract-ataxia-deafness syndrome
- OMIM:212710 Cataract-Ataxia-Deafness-Retardation syndrome
- ORPHA:1383 Cataract-deafness-hypogonadism syndrome
- ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome
- ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- OMIM:616145 Catel-Manzke syndrome
- ORPHA:1388 Catel-Manzke syndrome
- ORPHA:1123 Caudal appendage-deafness syndrome
- ORPHA:505652 CDKL5-deficiency disorder
- ORPHA:66631 CEDNIK syndrome
- OMIM:212750 Celiac disease, susceptibility to, 1
- ORPHA:178029 Central diabetes insipidus
- ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- ORPHA:759 Central precocious puberty
- OMIM:619576 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
- OMIM:224050 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
- OMIM:610185 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2
- ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome
- OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- OMIM:619761 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
- ORPHA:444072 Cerebellar-facial-dental syndrome
- OMIM:616202 Cerebellofaciodental syndrome
- OMIM:300352 Cerebral creatine deficiency syndrome 1
- OMIM:612718 Cerebral creatine deficiency syndrome 3
- OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- ORPHA:1393 Cerebrocostomandibular syndrome
- OMIM:117650 Cerebrocostomandibular syndrome
- ORPHA:314679 Cerebrofacioarticular syndrome
- ORPHA:1394 Cerebrofaciothoracic dysplasia
- OMIM:214150 Cerebrooculofacioskeletal syndrome 1
- OMIM:610756 Cerebrooculofacioskeletal syndrome 2
- OMIM:616570 Cerebrooculofacioskeletal syndrome 3
- OMIM:610758 Cerebrooculofacioskeletal syndrome 4
- OMIM:605627 Cerebrooculonasal syndrome
- OMIM:612199 Cerebroretinal microangiopathy with calcifications and cysts
- OMIM:617341 Cerebroretinal microangiopathy with calcifications and cysts 2
- ORPHA:169079 Cernunnos-XLF deficiency
- ORPHA:99949 Charcot-Marie-Tooth disease type 4C
- ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- OMIM:302905 Charge-Like syndrome, X-linked
- ORPHA:171439 Childhood-onset nemaline myopathy
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:3474 CHIME syndrome
- OMIM:617180 Chitayat syndrome
- OMIM:211600 Cholestasis, progressive familial intrahepatic 1
- OMIM:601847 Cholestasis, progressive familial intrahepatic 2
- OMIM:619868 Cholestasis, progressive familial intrahepatic, 10
- OMIM:620010 Cholestasis, progressive familial intrahepatic, 12
- OMIM:617049 Cholestasis, progressive familial intrahepatic, 5
- OMIM:619484 Cholestasis, progressive familial intrahepatic, 6
- OMIM:118610 Chondrocalcinosis due to apatite crystal deposition
- OMIM:215050 Chondrodysplasia calcificans metaphysealis
- OMIM:302950 Chondrodysplasia punctata 1, X-linked recessive
- OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant
- OMIM:118650 Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included
- OMIM:614078 Chondrodysplasia with joint dislocations, Gpapp type
- OMIM:300863 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
- OMIM:601376 Chondrodysplasia, lethal, with long bone angulation and mixed bone density
- ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome
- ORPHA:319195 Chondroectodermal dysplasia with night blindness
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- OMIM:619504 Chopra-Amiel-Gordon syndrome
- OMIM:616368 CHOPS syndrome
- ORPHA:2388 Choreoacanthocytosis
- ORPHA:85278 Christianson syndrome
- 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:615656 Chromosome 15q11.2 deletion syndrome
- OMIM:614294 Chromosome 15q25 deletion syndrome
- OMIM:612626 Chromosome 15q26-qter deletion syndrome
- OMIM:613604 Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb
- OMIM:610543 Chromosome 16p13.3 deletion syndrome
- OMIM:614541 Chromosome 16q22 deletion syndrome
- OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb
- OMIM:618874 Chromosome 17q11.2 duplication syndrome, 1.4-Mb
- OMIM:614527 Chromosome 17q12 deletion syndrome
- OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome
- OMIM:146390 Chromosome 18p deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:613638 Chromosome 19p13.13 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:619343 Chromosome 1p36 deletion syndrome, proximal
- OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb
- OMIM:612475 Chromosome 1q21.1 duplication syndrome
- OMIM:612530 Chromosome 1q41-q42 deletion syndrome
- OMIM:614257 Chromosome 20q11-q12 deletion syndrome
- OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal
- OMIM:608363 Chromosome 22q11.2 duplication syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:613681 Chromosome 2q31.1 duplication syndrome
- OMIM:600430 Chromosome 2q37 deletion syndrome
- OMIM:613792 Chromosome 3pter-p25 deletion syndrome
- OMIM:609425 Chromosome 3q29 deletion syndrome
- OMIM:611936 Chromosome 3q29 duplication syndrome
- OMIM:613509 Chromosome 4q21 deletion syndrome
- OMIM:613174 Chromosome 5p13 duplication syndrome
- OMIM:615668 Chromosome 5q12 deletion syndrome
- OMIM:613544 Chromosome 6q11-q14 deletion syndrome
- OMIM:612863 Chromosome 6q25-q25 deletion syndrome
- OMIM:614230 Chromosome 8q21.11 deletion syndrome
- OMIM:151200 Chromosome 8q22.1 duplication syndrome
- OMIM:300578 Chromosome xp11.3 deletion syndrome
- OMIM:301069 Chromosome Xq13 duplication syndrome
- OMIM:300942 Chromosome Xq26.3 duplication syndrome
- OMIM:300869 Chromosome xq27.3-q28 duplication syndrome
- OMIM:616201 Chronic atrial and intestinal dysrhythmia
- ORPHA:133 Chronic beryllium disease
- ORPHA:99921 Chronic graft versus host disease
- OMIM:618935 Chronic granulomatous disease 5, autosomal recessive
- ORPHA:396 Chronic hiccup
- ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- ORPHA:91359 Chronic pneumonitis of infancy
- ORPHA:70591 Chronic thromboembolic pulmonary hypertension
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- ORPHA:263463 CHST3-related skeletal dysplasia
- OMIM:246700 Chylomicron retention disease
- ORPHA:71 Chylomicron retention disease
- OMIM:612649 Ciliary dyskinesia, primary, 11
- OMIM:612650 Ciliary dyskinesia, primary, 12
- OMIM:613807 Ciliary dyskinesia, primary, 14
- OMIM:618300 Ciliary dyskinesia, primary, 40
- OMIM:618699 Ciliary dyskinesia, primary, 43
- OMIM:618781 Ciliary dyskinesia, primary, 44
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- OMIM:215720 Citrulline transport defect
- ORPHA:247525 Citrullinemia type I
- ORPHA:247585 Citrullinemia type II
- OMIM:215700 Citrullinemia, classic
- OMIM:605814 Citrullinemia, type II, neonatal-onset
- ORPHA:251383 CK syndrome
- OMIM:300831 Ck syndrome
- ORPHA:168984 CLAPO syndrome
- OMIM:300602 Clark-Baraitser syndrome
- ORPHA:79239 Classic galactosemia
- ORPHA:391 Classic Hodgkin lymphoma
- ORPHA:394 Classic homocystinuria
- ORPHA:324604 Classic multiminicore myopathy
- ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration
- ORPHA:79254 Classic phenylketonuria
- OMIM:216100 Cleft lip/palate with abnormal thumbs and microcephaly
- OMIM:601165 Cleft lip/palate with characteristic facies, intestinal malrotation,and lethal congenital heart disease
- ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome
- OMIM:600460 Cleft palate, cardiac defect, genital anomalies, and ectrodactyly
- OMIM:600987 Cleft palate, cardiac defects, and mental retardation
- OMIM:619074 Cleft palate, proliferative retinopathy, and developmental delay
- OMIM:616728 Cleft palate, psychomotor retardation, and distinctive facial features
- ORPHA:2013 Cleft palate-large ears-small head syndrome
- ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome
- OMIM:215850 Cleft-Limb-Heart malformation syndrome
- ORPHA:1452 Cleidocranial dysplasia
- OMIM:119600 Cleidocranial dysplasia
- OMIM:216330 Cleidocranial dysplasia, recessive form
- ORPHA:1453 Cleidorhizomelic syndrome
- OMIM:119650 Cleidorhizomelic syndrome
- OMIM:129500 Clouston syndrome
- ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome
- OMIM:119800 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
- ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy
- OMIM:216360 Coach syndrome 1
- 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:614651 Coenzyme Q10 deficiency, primary, 2
- OMIM:614654 Coenzyme Q10 deficiency, primary, 5
- OMIM:616276 Coenzyme Q10 deficiency, primary, 7
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- ORPHA:192 Coffin-Lowry syndrome
- 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:614608 Coffin-Siris syndrome 3
- OMIM:614609 Coffin-Siris syndrome 4
- OMIM:616938 Coffin-Siris syndrome 5
- OMIM:617808 Coffin-siris syndrome 6
- OMIM:618027 Coffin-Siris syndrome 7
- OMIM:618362 Coffin-Siris syndrome 8
- OMIM:615866 Coffin-Siris syndrome 9
- ORPHA:1466 COFS syndrome
- ORPHA:263508 COG1-CDG
- ORPHA:263501 COG4-CDG
- ORPHA:263487 COG5-CDG
- ORPHA:79333 COG7-CDG
- ORPHA:95428 COG8-CDG
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:193 Cohen syndrome
- OMIM:216550 Cohen syndrome
- OMIM:617561 Cohen-Gibson syndrome
- ORPHA:2050 Cole-Carpenter syndrome
- OMIM:112240 Cole-Carpenter syndrome 1
- OMIM:616294 Cole-Carpenter syndrome 2
- ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome
- OMIM:120200 Coloboma, ocular
- OMIM:601794 Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome
- ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- ORPHA:1198 Colonic atresia
- ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency
- ORPHA:436252 Combined immunodeficiency-enteropathy spectrum
- ORPHA:289504 Combined malonic and methylmalonic acidemia
- OMIM:614265 Combined malonic and methylmalonic aciduria
- OMIM:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- OMIM:619120 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
- ORPHA:319514 Combined oxidative phosphorylation defect type 13
- ORPHA:444013 Combined oxidative phosphorylation defect type 23
- ORPHA:565624 Combined oxidative phosphorylation defect type 39
- ORPHA:254930 Combined oxidative phosphorylation defect type 7
- OMIM:609060 Combined oxidative phosphorylation deficiency 1
- OMIM:614702 Combined oxidative phosphorylation deficiency 10
- OMIM:614924 Combined oxidative phosphorylation deficiency 12
- OMIM:614932 Combined oxidative phosphorylation deficiency 13
- OMIM:614946 Combined oxidative phosphorylation deficiency 14
- OMIM:614947 Combined oxidative phosphorylation deficiency 15
- OMIM:615440 Combined oxidative phosphorylation deficiency 17
- OMIM:615578 Combined oxidative phosphorylation deficiency 18
- OMIM:615595 Combined oxidative phosphorylation deficiency 19
- OMIM:610498 Combined oxidative phosphorylation deficiency 2
- OMIM:615917 Combined oxidative phosphorylation deficiency 20
- OMIM:616045 Combined oxidative phosphorylation deficiency 22
- OMIM:616198 Combined oxidative phosphorylation deficiency 23
- OMIM:616430 Combined oxidative phosphorylation deficiency 25
- OMIM:616672 Combined oxidative phosphorylation deficiency 27
- OMIM:610505 Combined oxidative phosphorylation deficiency 3
- OMIM:616974 Combined oxidative phosphorylation deficiency 30
- OMIM:617228 Combined oxidative phosphorylation deficiency 31
- OMIM:617872 Combined oxidative phosphorylation deficiency 34
- OMIM:617873 Combined oxidative phosphorylation deficiency 35
- OMIM:617950 Combined oxidative phosphorylation deficiency 36
- OMIM:618329 Combined oxidative phosphorylation deficiency 37
- OMIM:618378 Combined oxidative phosphorylation deficiency 38
- OMIM:618397 Combined oxidative phosphorylation deficiency 39
- OMIM:610678 Combined oxidative phosphorylation deficiency 4
- OMIM:618835 Combined oxidative phosphorylation deficiency 40
- OMIM:618838 Combined oxidative phosphorylation deficiency 41
- OMIM:618839 Combined oxidative phosphorylation deficiency 42
- OMIM:618851 Combined oxidative phosphorylation deficiency 43
- OMIM:618951 Combined oxidative phosphorylation deficiency 45
- OMIM:618958 Combined oxidative phosphorylation deficiency 47
- OMIM:619012 Combined oxidative phosphorylation deficiency 48
- OMIM:611719 Combined oxidative phosphorylation deficiency 5
- OMIM:619025 Combined oxidative phosphorylation deficiency 50
- OMIM:619057 Combined oxidative phosphorylation deficiency 51
- OMIM:619423 Combined oxidative phosphorylation deficiency 53
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:619743 Combined oxidative phosphorylation deficiency 55
- OMIM:613559 Combined oxidative phosphorylation deficiency 7
- OMIM:614096 Combined oxidative phosphorylation deficiency 8
- OMIM:614582 Combined oxidative phosphorylation deficiency 9
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- ORPHA:1572 Common variable immunodeficiency
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:99429 Complete androgen insensitivity syndrome
- ORPHA:1329 Complete atrioventricular septal defect
- 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:3319 Congenital amegakaryocytic thrombocytopenia
- ORPHA:86816 Congenital analbuminemia
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- ORPHA:79301 Congenital bile acid synthesis defect type 1
- ORPHA:79303 Congenital bile acid synthesis defect type 2
- OMIM:604168 Congenital cataracts, facial dysmorphism, and neuropathy
- ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome
- ORPHA:115 Congenital contractural arachnodactyly
- OMIM:615273 Congenital disorder of deglycosylation 1
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:617082 Congenital disorder of glycosylation, type IAA
- OMIM:602579 Congenital disorder of glycosylation, type Ib
- OMIM:601110 Congenital disorder of glycosylation, type Id
- OMIM:608799 Congenital disorder of glycosylation, type IE
- 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:607906 Congenital disorder of glycosylation, type Ii
- OMIM:212066 Congenital disorder of glycosylation, type IIa
- OMIM:266265 Congenital disorder of glycosylation, type IIc
- OMIM:608779 Congenital disorder of glycosylation, type IIe
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM:611182 Congenital disorder of glycosylation, type IIh
- OMIM:613612 Congenital disorder of glycosylation, type IIi
- OMIM:613489 Congenital disorder of glycosylation, type IIj
- OMIM:614727 Congenital disorder of glycosylation, type IIK
- OMIM:614576 Congenital disorder of glycosylation, type IIl
- OMIM:300896 Congenital disorder of glycosylation, type IIm
- OMIM:616721 Congenital disorder of glycosylation, type IIN
- OMIM:618885 Congenital disorder of glycosylation, type IIt
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- OMIM:608540 Congenital disorder of glycosylation, type Ik
- OMIM:608776 Congenital disorder of glycosylation, type Il
- OMIM:610768 Congenital disorder of glycosylation, type Im
- OMIM:612015 Congenital disorder of glycosylation, type IN
- OMIM:612379 Congenital disorder of glycosylation, type IQ
- OMIM:614507 Congenital disorder of glycosylation, type IR
- OMIM:614921 Congenital disorder of glycosylation, type It
- OMIM:615596 Congenital disorder of glycosylation, type Iw
- OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal dominant
- OMIM:615597 Congenital disorder of glycosylation, type Ix
- OMIM:300934 Congenital disorder of glycosylation, type Iy
- ORPHA:98870 Congenital dyserythropoietic anemia type III
- ORPHA:103910 Congenital enterocyte heparan sulfate deficiency
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- 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:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- OMIM:619657 Congenital heart defects, multiple types, 8, with or without heterotaxy
- OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ORPHA:293 Congenital herpes simplex virus infection
- ORPHA:442 Congenital hypothyroidism
- ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs
- ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability
- ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:2374 Congenital laryngeal web
- ORPHA:1954 Congenital lethal erythroderma
- ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency
- OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:272 Congenital muscular dystrophy, Fukuyama type
- ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:424107 Congenital myopathy with myasthenic-like onset
- ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma
- ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:2414 Congenital pulmonary lymphangiectasia
- ORPHA:290 Congenital rubella syndrome
- OMIM:615237 Congenital short bowel syndrome
- ORPHA:2301 Congenital short bowel syndrome
- ORPHA:99125 Congenital total pulmonary venous return anomaly
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:95430 Congenital tracheomalacia
- ORPHA:555874 Congenital tricuspid valve dysplasia
- ORPHA:92050 Congenital tufting enteropathy
- ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris
- ORPHA:291 Congenital varicella syndrome
- ORPHA:216694 Congenitally corrected transposition of the great arteries
- ORPHA:860 Congenitally uncorrected transposition of the great arteries
- ORPHA:420794 Cono-spondylar dysplasia
- OMIM:121050 Contractural arachnodactyly, congenital
- OMIM:178110 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A
- ORPHA:1488 Cooper-Jabs syndrome
- OMIM:121270 Copper deficiency, familial benign
- OMIM:122430 Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation
- ORPHA:199 Cornelia de Lange syndrome
- OMIM:122470 Cornelia de Lange syndrome 1
- OMIM:300590 Cornelia de Lange syndrome 2
- OMIM:610759 Cornelia de Lange syndrome 3
- OMIM:614701 Cornelia de Lange syndrome 4
- OMIM:300882 Cornelia de Lange syndrome 5
- ORPHA:3194 Corneodermatoosseous syndrome
- OMIM:122440 Corneodermatoosseous syndrome
- ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome
- ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- OMIM:217990 Corpus callosum, agenesis of
- OMIM:300004 Corpus callosum, agenesis of, with abnormal genitalia
- OMIM:300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia
- ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome
- OMIM:604922 Cortical defects, wormian bones, and dentinogenesis imperfecta
- ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2
- OMIM:615411 Cortical dysplasia, complex, with other brain malformations 3
- ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome
- OMIM:203400 Corticosterone methyloxidase type I deficiency
- OMIM:604931 Cortisone reductase deficiency 1
- OMIM:614662 Cortisone reductase deficiency 2
- OMIM:218040 Costello syndrome
- ORPHA:3071 Costello syndrome
- OMIM:260660 Cousin syndrome
- ORPHA:201 Cowden syndrome
- OMIM:122780 Coxoauricular syndrome
- ORPHA:1508 Coxoauricular syndrome
- ORPHA:1512 Crane-Heise syndrome
- ORPHA:1513 Craniodiaphyseal dysplasia
- OMIM:122860 Craniodiaphyseal dysplasia, autosomal dominant
- ORPHA:1514 Craniodigital-intellectual disability syndrome
- ORPHA:1515 Cranioectodermal dysplasia
- 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
- OMIM:122900 Craniofacial dysostosis with diaphyseal hyperplasia
- ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- OMIM:218350 Craniofacial dyssynostosis with short stature
- OMIM:114620 Craniofaciofrontodigital syndrome
- ORPHA:363705 Craniofaciofrontodigital syndrome
- OMIM:300712 Craniofacioskeletal syndrome
- OMIM:304110 Craniofrontonasal syndrome
- ORPHA:50814 Craniolenticulosutural dysplasia
- OMIM:607812 Craniolenticulosutural dysplasia
- OMIM:269300 Craniometadiaphyseal dysplasia
- OMIM:123000 Craniometaphyseal dysplasia, autosomal dominant
- ORPHA:54595 Craniopharyngioma
- OMIM:218450 Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
- OMIM:614188 Craniosynostosis and dental anomalies
- ORPHA:2145 Craniosynostosis, Herrmann-Opitz type
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- OMIM:619727 Craniotubular dysplasia, Ikegawa type
- OMIM:123450 Cri-Du-Chat syndrome
- OMIM:218900 Crome syndrome
- ORPHA:2930 Cronkhite-Canada syndrome
- ORPHA:1302 Cryptogenic organizing pneumonia
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- OMIM:300471 Cubitus valgus with mental retardation and unusual facies
- OMIM:615849 Culler-Jones syndrome
- ORPHA:1552 Currarino syndrome
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia
- OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia
- OMIM:616603 Cutis laxa, autosomal dominant 3
- OMIM:219100 Cutis laxa, autosomal recessive, type IA
- OMIM:614437 Cutis laxa, autosomal recessive, type IB
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- OMIM:219200 Cutis laxa, autosomal recessive, type IIA
- OMIM:612940 Cutis laxa, autosomal recessive, type IIB
- OMIM:617402 Cutis laxa, autosomal recessive, type IIC
- OMIM:617403 Cutis laxa, autosomal recessive, type IID
- OMIM:619451 Cutis laxa, autosomal recessive, type IIE
- OMIM:219150 Cutis laxa, autosomal recessive, type IIIA
- OMIM:614438 Cutis laxa, autosomal recessive, type IIIB
- ORPHA:1556 Cutis marmorata telangiectatica congenita
- OMIM:500007 Cyclic vomiting syndrome
- ORPHA:400 Cystic echinococcosis
- ORPHA:586 Cystic fibrosis
- OMIM:219700 Cystic fibrosis
- ORPHA:213 Cystinosis
- OMIM:219900 Cystinosis, late-onset juvenile or adolescent nephropathic
- OMIM:219800 Cystinosis, nephropathic
- OMIM:609162 Czech dysplasia, Metatarsal type
Code pathologie
Nom de la pathologie
- OMIM:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:1563 Dahlberg-Borer-Newcomer syndrome
- ORPHA:300536 DDOST-CDG
- ORPHA:2962 De Barsy syndrome
- OMIM:278800 De Sanctis-Cacchione syndrome
- ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia
- OMIM:221350 Deafness, congenital, with vitiligo and achalasia
- OMIM:300475 Deafness, dystonia, and cerebral hypomyelination
- OMIM:221750 Deafness, sensorineural, with pituitary dwarfism
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome
- ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:90646 Deafness-hypogonadism syndrome
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome
- ORPHA:3239 Deafness-vitiligo-achalasia syndrome
- OMIM:619004 Deeah syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:619488 DEGCAGS syndrome
- OMIM:619613 Delayed puberty, self-limited
- OMIM:300009 Dent disease 1
- OMIM:300555 Dent disease 2
- OMIM:601216 Dental anomalies and short stature
- ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- ORPHA:221 Dermatomyositis
- ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome
- ORPHA:99688 Dermotrichic syndrome
- OMIM:251450 Desbuquois dysplasia 1
- OMIM:615777 Desbuquois dysplasia 2
- ORPHA:1425 Desbuquois syndrome
- ORPHA:83469 Desmoplastic small round cell tumor
- ORPHA:35107 Desmosterolosis
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:620028 Developmental and epileptic encephalopathy 106
- OMIM:617938 Developmental and epileptic encephalopathy 62
- OMIM:618379 Developmental and epileptic encephalopathy 73
- OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects
- OMIM:617711 Developmental and epileptic encephalopathy 91
- OMIM:619340 Developmental and epileptic encephalopathy 96
- OMIM:617836 Developmental delay and seizures with or without movement abnormalities
- 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:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities
- OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
- OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
- OMIM:619090 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
- 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:79107 Developmental malformations-deafness-dystonia syndrome
- ORPHA:1666 Dextrocardia
- OMIM:125800 Diabetes insipidus, nephrogenic, 2
- OMIM:304800 Diabetes insipidus, nephrogenic, X-linked
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- OMIM:125853 Diabetes mellitus, noninsulin-dependent
- OMIM:606176 Diabetes mellitus, permanent neonatal 1
- OMIM:618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features
- OMIM:618858 Diabetes mellitus, permanent neonatal 4
- OMIM:601410 Diabetes mellitus, transient neonatal, 1
- ORPHA:1926 Diabetic embryopathy
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:613309 Diamond-blackfan anemia 10
- OMIM:614900 Diamond-Blackfan anemia 11
- OMIM:606164 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:612527 Diamond-Blackfan anemia 4
- OMIM:612528 Diamond-Blackfan anemia 5
- OMIM:612561 Diamond-Blackfan anemia 6
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:612563 Diamond-Blackfan anemia 8
- OMIM:613308 Diamond-Blackfan anemia 9
- OMIM:608022 Diaphanospondylodysostosis
- ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome
- OMIM:214700 Diarrhea 1, secretory chloride, congenital
- OMIM:251850 Diarrhea 2, with microvillous atrophy
- OMIM:610370 Diarrhea 4, malabsorptive, congenital
- OMIM:613217 Diarrhea 5, with tufting enteropathy, congenital
- OMIM:615863 Diarrhea 7, protein-losing Enteropathy type
- OMIM:618168 Diarrhea 9
- ORPHA:628 Diastrophic dysplasia
- OMIM:222600 Diastrophic dysplasia
- ORPHA:1672 Diencephalic syndrome
- ORPHA:1916 Diethylstilbestrol syndrome
- OMIM:618846 Diets-Jongmans syndrome
- ORPHA:90060 Diffuse alveolar hemorrhage
- OMIM:188400 Digeorge syndrome
- OMIM:126050 Digitotalar dysmorphism
- OMIM:274270 Dihydropyrimidine dehydrogenase deficiency
- OMIM:222748 Dihydropyrimidinuria
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- OMIM:126190 Disproportionate short stature with ptosis and valvular heart lesions
- ORPHA:261222 Distal 16p11.2 microdeletion syndrome
- ORPHA:261330 Distal 22q11.2 microdeletion 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:1597 Distal monosomy 17q
- ORPHA:36367 Distal monosomy 1q
- ORPHA:1620 Distal monosomy 3p
- ORPHA:1636 Distal monosomy 7q36
- ORPHA:399103 Distal nebulin myopathy
- 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:96097 Distal trisomy 5q
- ORPHA:1745 Distal trisomy 6p
- ORPHA:293939 Distal Xq28 microduplication syndrome
- ORPHA:91131 DK1-CDG
- ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome
- ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:231226 Dominant beta-thalassemia
- OMIM:246200 Donohue syndrome
- ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency
- ORPHA:3426 Double outlet right ventricle
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:314621 Duplication of the pituitary gland
- OMIM:127200 Dwarfism with stiff joints and ocular abnormalities
- OMIM:126950 Dwarfism with tall vertebrae
- OMIM:127100 Dwarfism, Levi type
- OMIM:223500 Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone
- OMIM:223540 Dwarfism, mental retardation, and eye abnormality
- OMIM:223550 Dwarfism, proportionate, with hip dislocation
- OMIM:223800 Dyggve-Melchior-Clausen disease
- ORPHA:239 Dyggve-Melchior-Clausen disease
- OMIM:304950 Dyggve-Melchior-Clausen syndrome, X-linked
- 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:241 Dyschromatosis universalis hereditaria
- ORPHA:1766 Dysequilibrium syndrome
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613989 Dyskeratosis congenita, autosomal dominant 2
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- OMIM:616553 Dyskeratosis congenita, autosomal dominant 6
- OMIM:615190 Dyskeratosis congenita, autosomal recessive 5
- OMIM:616353 Dyskeratosis congenita, autosomal recessive 6
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- OMIM:613987 Dyskeratosis congenita, autosomal recessive, 2
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:305000 Dyskeratosis congenita, X-linked
- ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- ORPHA:1782 Dysosteosclerosis
- OMIM:224300 DYSOSTEOSCLEROSIS
- OMIM:619345 Dysostosis multiplex, Ain-Naz type
- ORPHA:1798 Dysostosis, Stanescu type
- ORPHA:1822 Dysplasia epiphysealis hemimelica
- OMIM:127800 Dysplasia epiphysealis hemimelica
- ORPHA:2204 Dysplastic cortical hyperostosis
- OMIM:224400 Dyssegmental dysplasia, Rolland-Desbuquois type
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
- ORPHA:85198 Dysspondyloenchondromatosis
- ORPHA:589618 Dystonia 28
- OMIM:617284 Dystonia 28, childhood-onset
- OMIM:128101 Dystonia 4, torsion, autosomal dominant
- OMIM:617282 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
- OMIM:612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
- OMIM:607371 Dystonia, juvenile-onset
Code pathologie
Nom de la pathologie
- ORPHA:2554 Ear-patella-short stature syndrome
- ORPHA:1934 Early infantile epileptic encephalopathy
- ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ORPHA:556030 Early-onset familial hypoaldosteronism
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- OMIM:601345 Ectodermal dysplasia with natal teeth, Turnpenny type
- ORPHA:1806 Ectodermal dysplasia-blindness syndrome
- ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome
- ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome
- OMIM:616029 Ectodermal dysplasia/short stature syndrome
- OMIM:129850 Edinburgh malformation syndrome
- ORPHA:1895 Edinburgh malformation syndrome
- ORPHA:1896 EEC syndrome
- OMIM:130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:130080 Ehlers-Danlos syndrome, periodontal type, 1
- OMIM:130070 Ehlers-Danlos syndrome, spondylodysplastic type, 1
- OMIM:615349 Ehlers-Danlos syndrome, spondylodysplastic type, 2
- OMIM:612350 Ehlers-Danlos syndrome, spondylodysplastic type, 3
- OMIM:130000 Ehlers-danlos syndrome, type I
- OMIM:225410 Ehlers-Danlos syndrome, type VII, autosomal recessive
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- OMIM:600002 Eiken syndrome
- ORPHA:79106 Eiken syndrome
- ORPHA:289 Ellis Van Creveld syndrome
- OMIM:225500 Ellis-Van creveld syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- ORPHA:261 Emery-Dreifuss muscular dystrophy
- OMIM:619441 Encephalitis, acute, infection (viral)-induced, susceptibility to, 11
- OMIM:614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
- OMIM:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1
- OMIM:617086 Encephalopathy due to defective mitochondrial and peroxisomal fission 2
- OMIM:618426 Encephalopathy, acute, infection-induced, susceptibility to, 9
- OMIM:602473 Encephalopathy, ethylmalonic
- OMIM:300673 Encephalopathy, neonatal severe, due to mecp2 mutations
- OMIM:617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
- OMIM:617207 Encephalopathy, progressive, with amyotrophy and optic atrophy
- OMIM:619218 ENDOVE syndrome, limb-brain type
- ORPHA:1937 Eng-Strom syndrome
- OMIM:226200 Enterokinase deficiency
- ORPHA:3165 Eosinophilic fasciitis
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- OMIM:619599 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive
- OMIM:226670 Epidermolysis bullosa simplex with muscular dystrophy
- OMIM:131760 Epidermolysis bullosa simplex, Dowling-Meara type
- OMIM:226700 Epidermolysis bullosa, junctional, Herlitz type
- OMIM:245570 Epilepsy, focal, with speech disorder and with or without mental retardation
- OMIM:616577 Epilepsy, hearing loss, and mental retardation syndrome
- OMIM:618596 Epilepsy, idiopathic generalized, susceptibility to, 16
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- OMIM:616339 Epileptic encephalopathy, early infantile, 29
- OMIM:616647 Epileptic encephalopathy, early infantile, 35
- OMIM:617065 Epileptic encephalopathy, early infantile, 40
- OMIM:617132 Epileptic encephalopathy, early infantile, 44
- OMIM:617162 Epileptic encephalopathy, early infantile, 46
- OMIM:617339 Epileptic encephalopathy, early infantile, 51
- OMIM:617599 Epileptic encephalopathy, early infantile, 55
- OMIM:618201 Epileptic encephalopathy, early infantile, 68
- OMIM:618580 Epileptic encephalopathy, early infantile, 80
- OMIM:618721 Epileptic encephalopathy, early infantile, 82
- OMIM:618910 Epileptic encephalopathy, early infantile, 86
- OMIM:618959 Epileptic encephalopathy, early infantile, 88
- OMIM:615923 Epiphyseal chondrodysplasia, Miura type
- OMIM:610797 Epiphyseal dysplasia, Baumann type
- OMIM:132400 Epiphyseal dysplasia, multiple, 1
- OMIM:600204 Epiphyseal dysplasia, multiple, 2
- OMIM:600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy
- OMIM:226900 Epiphyseal dysplasia, multiple, 4
- OMIM:607078 Epiphyseal dysplasia, multiple, 5
- OMIM:617719 Epiphyseal dysplasia, multiple, 7
- OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
- OMIM:609325 Epiphyseal dysplasia, multiple, with miniepiphyses
- OMIM:132450 Epiphyseal dysplasia, multiple, with myopia and conductive deafness
- OMIM:609324 Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia
- ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:999 Ermine phenotype
- OMIM:263400 Erythrocytosis, familial, 2
- ORPHA:314 Erythroderma desquamativum
- OMIM:615508 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
- OMIM:609165 Erythroderma, ichthyosiform, congenital reticular
- OMIM:227090 Erythroderma, lethal congenital
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- OMIM:610247 Esophagitis, eosinophilic, 1
- OMIM:613412 Esophagitis, eosinophilic, 2
- OMIM:615363 Estrogen resistance
- ORPHA:785 Estrogen resistance syndrome
- ORPHA:51188 Ethylmalonic encephalopathy
- OMIM:616854 Even-Plus syndrome
- OMIM:612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis
- OMIM:133700 Exostoses, multiple, type I
- OMIM:133701 Exostoses, multiple, type II
- OMIM:133750 Extrasystoles, multiform ventricular, with short stature, hyperpigmentationand microcephaly
- ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:227255 Facial dysmorphism with multiple malformations
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- OMIM:227270 Faciocardiomelic dysplasia, lethal
- OMIM:612731 Faciocardiomelic syndrome
- ORPHA:1973 Faciocardiorenal syndrome
- OMIM:227330 Faciodigitogenital syndrome, autosomal recessive
- OMIM:601127 Fallot complex with severe mental and growth retardation
- ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome
- ORPHA:86820 Familial avascular necrosis of femoral head
- ORPHA:1551 Familial benign copper deficiency
- ORPHA:444490 Familial chylomicronemia syndrome
- ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:217607 Familial dilated cardiomyopathy
- ORPHA:1764 Familial dysautonomia
- ORPHA:99819 Familial gestational hyperthyroidism
- ORPHA:361 Familial glucocorticoid deficiency
- ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor
- ORPHA:427 Familial hypoaldosteronism
- ORPHA:225154 Familial infantile bilateral striatal necrosis
- ORPHA:2238 Familial isolated hypoparathyroidism
- ORPHA:75249 Familial isolated restrictive cardiomyopathy
- ORPHA:3000 Familial male-limited precocious puberty
- ORPHA:199276 Familial multiple lipomatosis
- ORPHA:624 Familial multiple nevi flammei
- ORPHA:1333 Familial pancreatic carcinoma
- ORPHA:69076 Familial renal glucosuria
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:71493 Familial thrombocytosis
- 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:605724 Fanconi anemia, complementation group D1
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:600901 Fanconi anemia, complementation group E
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:614082 Fanconi anemia, complementation group G
- OMIM:609053 Fanconi anemia, complementation group I
- OMIM:609054 Fanconi anemia, complementation group J
- OMIM:614083 Fanconi anemia, complementation group L
- OMIM:610832 Fanconi anemia, complementation group N
- OMIM:613390 Fanconi anemia, complementation group O
- OMIM:613951 Fanconi anemia, complementation group P
- OMIM:615272 Fanconi anemia, complementation group Q
- OMIM:617244 Fanconi anemia, complementation group R
- OMIM:617883 Fanconi anemia, complementation group S
- OMIM:616435 Fanconi anemia, complementation group T
- OMIM:617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U
- OMIM:617243 Fanconi anemia, complementation group V
- 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:227810 Fanconi-Bickel syndrome
- ORPHA:2088 Fanconi-Bickel syndrome
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- OMIM:600072 Fatal familial insomnia
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:2492 FATCO syndrome
- ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency
- OMIM:619376 Faundes-Banka syndrome
- ORPHA:1305 Feingold syndrome
- OMIM:614326 Feingold syndrome 2
- ORPHA:391641 Feingold syndrome type 1
- ORPHA:391646 Feingold syndrome type 2
- ORPHA:47612 Felty syndrome
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- ORPHA:2019 Femur-fibula-ulna complex
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- ORPHA:1915 Fetal alcohol syndrome
- ORPHA:1912 Fetal hydantoin syndrome
- ORPHA:1917 Fetal methylmercury syndrome
- ORPHA:295 Fetal parvovirus syndrome
- ORPHA:1913 Fetal trimethadione syndrome
- OMIM:300321 Fg syndrome 2
- ORPHA:93932 FG syndrome type 1
- ORPHA:2021 Fibrochondrogenesis
- OMIM:228520 Fibrochondrogenesis 1
- ORPHA:337 Fibrodysplasia ossificans progressiva
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- ORPHA:249 Fibrous dysplasia of bone
- OMIM:228930 Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
- ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome
- ORPHA:93323 Fibular hemimelia
- OMIM:228900 Fibular hypoplasia and complex brachydactyly
- OMIM:272440 Filippi syndrome
- ORPHA:3255 Filippi syndrome
- OMIM:135950 Finger locking, recurrent, with intrauterine growth retardation andproportionate short stature
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:2047 Flynn-Aird syndrome
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- ORPHA:48918 Focal myositis
- OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- OMIM:229050 Folate malabsorption, hereditary
- ORPHA:545 Follicular lymphoma
- OMIM:612289 Fontaine progeroid syndrome
- OMIM:229100 Formiminotransferase deficiency
- OMIM:613606 Forsythe-Wakeling syndrome
- OMIM:229120 Fountain syndrome
- ORPHA:3219 Fountain syndrome
- ORPHA:561854 FOXG1 syndrome
- ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion
- OMIM:249420 Frank-ter Haar syndrome
- ORPHA:834 Free sialic acid storage disease
- ORPHA:2053 Freeman-Sheldon syndrome
- OMIM:609640 Frias syndrome
- ORPHA:1791 Frontofacionasal dysplasia
- ORPHA:1826 Frontometaphyseal dysplasia
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:613451 Frontonasal dysplasia 2
- ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome
- ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- OMIM:229600 Fructose intolerance, hereditary
- OMIM:229850 Fryns syndrome
- ORPHA:2058 Fryns-Smeets-Thiry syndrome
- OMIM:230000 FUCOSIDOSIS
- ORPHA:349 Fucosidosis
- OMIM:606812 Fumarase deficiency
- ORPHA:91348 Functioning gonadotropic adenoma
Code pathologie
Nom de la pathologie
- OMIM:613163 GABA-transaminase deficiency
- OMIM:617557 Gabriele-De vries syndrome
- ORPHA:506358 Gabriele-de Vries syndrome
- ORPHA:90041 Gaisböck syndrome
- ORPHA:79237 Galactokinase deficiency
- ORPHA:79238 Galactose epimerase deficiency
- OMIM:230350 Galactose epimerase deficiency
- ORPHA:570422 Galactose mutarotase deficiency
- OMIM:230400 GALACTOSEMIA
- ORPHA:352 Galactosemia
- OMIM:256540 Galactosialidosis
- ORPHA:100086 Gallbladder neuroendocrine tumor
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:301006 Galloway-Mowat syndrome 2, X-linked
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:617730 Galloway-Mowat syndrome 4
- OMIM:618347 Galloway-Mowat syndrome 6
- OMIM:618348 Galloway-Mowat syndrome 7
- OMIM:230740 Gapo syndrome
- ORPHA:2067 GAPO syndrome
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- ORPHA:77261 Gaucher disease type 3
- OMIM:608013 Gaucher disease, perinatal lethal
- OMIM:230900 Gaucher disease, type II
- OMIM:231000 Gaucher disease, type III
- ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- OMIM:231050 Geleophysic dysplasia 1
- OMIM:614185 Geleophysic dysplasia 2
- OMIM:617809 Geleophysic dysplasia 3
- ORPHA:2074 Gemignani syndrome
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli
- ORPHA:171876 Generalized pseudohypoaldosteronism type 1
- ORPHA:2075 Genitopalatocardiac syndrome
- ORPHA:85201 Genitopatellar syndrome
- ORPHA:2077 German syndrome
- ORPHA:2078 Geroderma osteodysplastica
- OMIM:231070 Geroderma osteodysplasticum
- OMIM:137440 Gerstmann-Straussler disease
- OMIM:612917 Giacheti syndrome
- ORPHA:397 Giant cell arteritis
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- OMIM:612313 Glass syndrome
- ORPHA:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
- OMIM:618330 Global developmental delay with or without impaired intellectual development
- 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:221098 Glossopharyngeal neuralgia
- ORPHA:97280 Glucagonoma
- OMIM:202200 Glucocorticoid deficiency 1
- OMIM:614736 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
- ORPHA:35710 Glucose-galactose malabsorption
- OMIM:606824 Glucose/galactose malabsorption
- OMIM:231670 Glutaric acidemia I
- ORPHA:35706 Glutaric acidemia type 3
- OMIM:231690 Glutaric aciduria III
- OMIM:307030 Glycerol kinase deficiency
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset
- ORPHA:57 Glycogen storage disease due to aldolase A deficiency
- ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency
- ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency
- ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency
- ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency
- ORPHA: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: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:232400 Glycogen storage disease III
- OMIM:232500 Glycogen storage disease IV
- OMIM:613027 Glycogen storage disease IXc
- OMIM:261750 Glycogen storage disease type IXb
- OMIM:232700 Glycogen storage disease VI
- OMIM:611881 Glycogen storage disease XII
- OMIM:306000 Glycogen storage disease, type IXa1
- OMIM:618010 Glycosylphosphatidylinositol biosynthesis defect 17
- OMIM:619985 Glycosylphosphatidylinositol biosynthesis defect 25
- ORPHA:354 GM1 gangliosidosis
- ORPHA:79255 GM1 gangliosidosis type 1
- OMIM:230500 GM1-gangliosidosis, type I
- OMIM:230600 GM1-gangliosidosis, type II
- OMIM:230650 GM1-gangliosidosis, type III
- ORPHA:309246 GM2 gangliosidosis, AB variant
- ORPHA:2090 GMS syndrome
- OMIM:138770 Gms syndrome
- ORPHA:66629 Goldberg-Shprintzen megacolon syndrome
- OMIM:233270 Gombo syndrome
- OMIM:601853 Gomez-Lopez-Hernandez syndrome
- ORPHA:1532 Gómez-López-Hernández syndrome
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- OMIM:233450 Goodpasture syndrome
- ORPHA:376 Gordon syndrome
- ORPHA:2095 Gorlin-Chaudhry-Moss syndrome
- OMIM:602361 Gracile bone dysplasia
- OMIM:603358 Gracile syndrome
- ORPHA:53693 GRACILE syndrome
- ORPHA:39812 Graft versus host disease
- OMIM:602531 Grange syndrome
- ORPHA:2097 Grant syndrome
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- OMIM:275000 Graves disease
- ORPHA:1426 Greenberg dysplasia
- OMIM:215140 Greenberg skeletal dysplasia
- ORPHA:97261 GRFoma
- ORPHA:381 Griscelli syndrome
- ORPHA:73273 Growth delay due to insulin-like growth factor I resistance
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- OMIM:608278 Growth failure, microcephaly, mental retardation, cataracts, largejoint contractures, osteoporosis, cortical dysplasia, and cerebellaratrophy
- OMIM:615925 Growth hormone deficiency, isolated partial
- OMIM:262400 Growth hormone deficiency, isolated, type IA
- OMIM:612781 Growth hormone deficiency, isolated, type IB
- OMIM:618157 Growth hormone deficiency, isolated, type IV
- ORPHA:181393 Growth hormone insensitivity syndrome
- OMIM:245590 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
- OMIM:604271 Growth hormone insensitivity, partial
- 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
- OMIM:233810 Growth retardation, small and puffy hands and feet, and eczema
- OMIM:601187 Gurrieri syndrome
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- ORPHA:99803 Haddad syndrome
- OMIM:612946 Hadziselimovic syndrome
- OMIM:139600 Hairy elbows
- OMIM:234250 Hall-Riggs mental retardation syndrome
- ORPHA:2107 Hall-Riggs syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:234350 Halothane hepatitis
- ORPHA:93946 Hamel cerebro-palato-cardiac syndrome
- OMIM:139750 Hand and foot deformity with flat facies
- OMIM:301068 Hardikar syndrome
- OMIM:601095 Harrod syndrome
- ORPHA:2115 Harrod syndrome
- ORPHA:2116 Hartnup disease
- OMIM:234500 Hartnup disorder
- ORPHA:2117 Hartsfield syndrome
- ORPHA:2118 Hawkinsinuria
- OMIM:140350 Hawkinsinuria
- OMIM:616920 Heart and brain malformation syndrome
- ORPHA:1354 Heart defects-limb shortening syndrome
- ORPHA:1350 Heart-hand syndrome type 2
- ORPHA:244242 HELLP syndrome
- OMIM:615873 Helsmoortel-van der Aa syndrome
- OMIM:614034 Heme oxygenase-1 deficiency
- ORPHA:306741 Hemidystonia-hemiatrophy syndrome
- OMIM:235000 Hemihyperplasia, isolated
- ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome
- ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome
- OMIM:231100 Hemochromatosis, neonatal
- ORPHA:2133 Hemoglobin E disease
- OMIM:267700 Hemophagocytic lymphohistiocytosis, familial, 1
- OMIM:603553 Hemophagocytic lymphohistiocytosis, familial, 2
- ORPHA:340 Hemorrhagic fever-renal syndrome
- OMIM:619641 Hengel-Maroofian-Schols syndrome
- OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome
- OMIM:616006 Hennekam lymphangiectasia-lymphedema syndrome 2
- ORPHA:2136 Hennekam syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
- ORPHA:890 Hepatic veno-occlusive disease
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:85450 Hereditary amyloidosis with primary renal involvement
- ORPHA:1867 Hereditary bullous dystrophy, macular type
- ORPHA:30925 Hereditary central diabetes insipidus
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:288 Hereditary elliptocytosis
- ORPHA:90045 Hereditary folate malabsorption
- ORPHA:469 Hereditary fructose intolerance
- ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria
- ORPHA:411602 Hereditary late-onset Parkinson disease
- ORPHA:621 Hereditary methemoglobinemia
- OMIM:606071 Hereditary motor and sensory neuropathy, type IIC
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:822 Hereditary spherocytosis
- ORPHA:79430 Hermansky-Pudlak syndrome
- ORPHA:2139 Hernández-Aguirre Negrete syndrome
- OMIM:306955 Heterotaxy, visceral, 1, X-linked
- OMIM:619607 Heterotaxy, visceral, 10, autosomal, with male infertility
- OMIM:619702 Heterotaxy, visceral, 12, autosomal
- OMIM:605376 Heterotaxy, visceral, 2, autosomal
- OMIM:270100 Heterotaxy, visceral, 5
- OMIM:614779 Heterotaxy, visceral, 6, autosomal
- OMIM:616749 Heterotaxy, visceral, 7, autosomal
- OMIM:617205 Heterotaxy, visceral, 8, autosomal
- OMIM:618724 Heyn-Sproul-Jackson syndrome
- OMIM:306960 Hhhh syndrome
- ORPHA:388 Hirschsprung disease
- ORPHA:137675 Histiocytoid cardiomyopathy
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:98293 Hodgkin lymphoma
- ORPHA:79242 Holocarboxylase synthetase deficiency
- ORPHA:2162 Holoprosencephaly
- OMIM:236100 Holoprosencephaly 1
- OMIM:618500 Holoprosencephaly 12 with or without pancreatic agenesis
- OMIM:610829 Holoprosencephaly 9
- OMIM:306990 Holoprosencephaly with fetal akinesia/hypokinesia sequence
- OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis
- ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome
- ORPHA:2167 Holzgreve syndrome
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:622 Homocystinuria without methylmalonic aciduria
- OMIM:236270 Homocystinuria-megaloblastic anemia, cbl E type
- OMIM:250940 Homocystinuria-megaloblastic anemia, cblg Complementation type
- OMIM:606528 Homozygous 11p15-p14 deletion syndrome
- OMIM:236300 Hooft disease
- ORPHA:3322 Hoyeraal-Hreidarsson syndrome
- ORPHA:391417 HSD10 disease
- ORPHA:3266 Humero-radio-ulnar synostosis
- OMIM:611962 Hunter-Macdonald syndrome
- OMIM:601379 Hunter-Mcalpine craniosynostosis syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:93476 Hurler-Scheie syndrome
- OMIM:176670 Hutchinson-Gilford progeria syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- OMIM:236450 Hutterite cerebroosteonephrodysplasia syndrome
- OMIM:228600 Hyaline fibromatosis syndrome
- ORPHA:67041 Hyaluronidase deficiency
- ORPHA:2177 Hydranencephaly
- OMIM:236640 Hydrocephalus with associated malformations
- OMIM:236660 Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis
- ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome
- ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome
- OMIM:236680 Hydrolethalus syndrome 1
- ORPHA:1041 Hydrops fetalis
- OMIM:617021 Hydrops, lactic acidosis, and sideroblastic anemia
- OMIM:237400 HYPER-BETA-ALANINEMIA
- OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive
- ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency
- OMIM:616963 Hypercalcemia, infantile 2
- OMIM:143880 Hypercalcemia, infantile, 1
- OMIM:143860 Hyperchlorhidrosis, isolated
- OMIM:607748 Hypercholanemia, familial
- ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- OMIM:614462 Hyperglycinemia, lactic acidosis, and seizures
- ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome
- ORPHA:343 Hyperimmunoglobulinemia D with periodic fever
- OMIM:256450 Hyperinsulinemic hypoglycemia, familial, 1
- OMIM:601820 Hyperinsulinemic hypoglycemia, familial, 2
- OMIM:606762 Hyperinsulinemic hypoglycemia, familial, 6
- ORPHA:324575 Hyperinsulinism due to HNF1A deficiency
- ORPHA:263455 Hyperinsulinism due to HNF4A deficiency
- ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- ORPHA:276556 Hyperinsulinism due to UCP2 deficiency
- OMIM:238340 HYPERLEUCINE-ISOLEUCINEMIA
- OMIM:615947 Hyperlipoproteinemia, type ID
- ORPHA:2203 Hyperlysinemia
- OMIM:238750 Hyperlysinuria with hyperammonemia
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- OMIM:613752 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
- OMIM:238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
- ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- OMIM:144800 Hyperostosis frontalis interna
- OMIM:144750 Hyperostosis, endosteal
- OMIM:239199 Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
- OMIM:239200 Hyperparathyroidism, neonatal severe
- OMIM:261640 Hyperphenylalaninemia, BH4-deficient, A
- OMIM:615716 Hyperphosphatasia with impaired intellectual development syndrome 4
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome
- OMIM:112410 Hypertension and brachydactyly syndrome
- OMIM:609152 Hyperthyroidism, nonautoimmune
- ORPHA:2220 Hypertrichosis cubiti
- OMIM:239850 Hypertrichotic osteochondrodysplasia
- OMIM:614480 Hypertriglyceridemia, transient infantile
- OMIM:259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- OMIM:610600 Hypoaldosteronism, congenital, due to CMO II deficiency
- OMIM:601198 Hypocalcemia, autosomal dominant 1
- OMIM:615361 Hypocalcemia, autosomal dominant 2
- ORPHA:289157 Hypocalcemic vitamin D-dependent rickets
- ORPHA:93160 Hypocalcemic vitamin D-resistant rickets
- ORPHA:429 Hypochondroplasia
- OMIM:146000 Hypochondroplasia
- ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- OMIM:308700 Hypogonadotropic hypogonadism 1 with or without anosmia
- OMIM:614841 Hypogonadotropic hypogonadism 12 with or without anosmia
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- OMIM:615270 Hypogonadotropic hypogonadism 20 with or without anosmia
- OMIM:615271 Hypogonadotropic hypogonadism 21 with or without anosmia
- OMIM:228300 Hypogonadotropic hypogonadism 23 without anosmia
- OMIM:619718 Hypogonadotropic hypogonadism 26 with or without anosmia
- OMIM:619755 Hypogonadotropic hypogonadism 27 without anosmia
- OMIM:610628 Hypogonadotropic hypogonadism 4 with or without anosmia
- OMIM:612702 Hypogonadotropic hypogonadism 6 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
- ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy
- OMIM:240900 Hypoinsulinemic hypoglycemia with hemihypertrophy
- OMIM:248250 Hypomagnesemia 3, renal
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- ORPHA:436 Hypophosphatasia
- OMIM:241510 Hypophosphatasia, childhood
- OMIM:241500 Hypophosphatasia, infantile
- OMIM:146350 Hypophosphatemic bone disease
- ORPHA:437 Hypophosphatemic rickets
- OMIM:612089 Hypophosphatemic rickets and hyperparathyroidism
- OMIM:241530 Hypophosphatemic rickets with hypercalciuria, hereditary
- OMIM:193100 Hypophosphatemic rickets, autosomal dominant
- OMIM: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
- OMIM:603463 Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
- OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- OMIM:300888 Hypothyroidism, central, and testicular enlargement
- OMIM:218700 Hypothyroidism, congenital, nongoitrous, 2
- OMIM:275100 Hypothyroidism, congenital, nongoitrous, 4
- OMIM:225250 Hypothyroidism, congenital, nongoitrous, 5
- OMIM:614450 Hypothyroidism, congenital, nongoitrous, 6
- OMIM:618573 Hypothyroidism, congenital, nongoitrous, 7
- OMIM:301035 Hypothyroidism, congenital, nongoitrous, 9
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
- OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
- OMIM:616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:163690 Hypotonia-cystinuria syndrome
- ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome
- ORPHA:1573 Hypotrichosis with juvenile macular degeneration
Code pathologie
Nom de la pathologie
- ORPHA:2268 ICF syndrome
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:242100 Ichthyosis, congenital, autosomal recessive 2
- OMIM:242530 Ichthyosis, mental retardation, dwarfism, and renal impairment
- OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation
- ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- ORPHA:930 Idiopathic achalasia
- ORPHA:60033 Idiopathic bronchiectasis
- ORPHA:2902 Idiopathic chronic eosinophilic pneumonia
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:238624 Idiopathic intracranial hypertension
- ORPHA:45452 Idiopathic neonatal atrial flutter
- ORPHA:99931 Idiopathic pulmonary hemosiderosis
- ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- ORPHA:449400 IgG4-related aortitis
- ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:49041 IgG4-related retroperitoneal fibrosis
- ORPHA:100078 Ileal neuroendocrine tumor
- OMIM:618786 Imagawa-Matsumoto syndrome
- ORPHA:85173 IMAGe syndrome
- ORPHA:35858 Imerslund-Gräsbeck syndrome
- OMIM:242700 Immune defect due to absence of thymus
- ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- OMIM:615468 Immunodeficiency 12
- OMIM:615592 Immunodeficiency 15
- OMIM:615607 Immunodeficiency 17
- OMIM:615617 Immunodeficiency 19
- OMIM:615758 Immunodeficiency 22
- OMIM:615816 Immunodeficiency 23
- OMIM:615966 Immunodeficiency 26 with or without neurologic abnormalities
- OMIM:209950 Immunodeficiency 27A, mycobacteriosis, AR
- OMIM:614162 Immunodeficiency 31C
- OMIM:226990 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
- OMIM:616005 Immunodeficiency 36
- OMIM:616433 Immunodeficiency 40
- OMIM:606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity
- OMIM:616740 Immunodeficiency 46
- OMIM:300972 Immunodeficiency 47
- OMIM:269840 Immunodeficiency 48
- OMIM:617514 Immunodeficiency 52
- OMIM:617585 Immunodeficiency 53
- OMIM:609981 Immunodeficiency 54
- OMIM:617827 Immunodeficiency 55
- OMIM:615207 Immunodeficiency 56
- OMIM:618108 Immunodeficiency 57
- OMIM:618131 Immunodeficiency 58
- OMIM:233600 Immunodeficiency 59 and hypoglycemia
- OMIM:300310 Immunodeficiency 61
- OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity
- OMIM:618534 Immunodeficiency 64
- OMIM:618963 Immunodeficiency 69, mycobacteriosis
- OMIM:617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
- OMIM:618987 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
- OMIM:619164 Immunodeficiency 76
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619510 Immunodeficiency 85 and autoimmunity
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:612782 Immunodeficiency 9
- OMIM:619644 Immunodeficiency 91 and hyperinflammation
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:619774 Immunodeficiency 96
- OMIM:301078 Immunodeficiency 98 with autoinflammation, X-linked
- OMIM:619846 Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- ORPHA:572 Immunodeficiency by defective expression of MHC class II
- OMIM:610798 Immunodeficiency due to defect in mapbp-interacting protein
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- OMIM:615767 Immunodeficiency, common variable, 11
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:617744 Immunodeficiency, developmental delay, and hypohomocysteinemia
- OMIM:308230 Immunodeficiency, X-linked, with hyper-IgM
- OMIM:242860 Immunodeficiency-Centromeric instability-facial anomalies syndrome
- OMIM:616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3
- OMIM:614069 Immunodeficiency-Centromeric instability-facial anomalies syndrome2
- OMIM:304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
- OMIM:300076 Immunoneurologic disorder, X-linked
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- OMIM:617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- OMIM:308300 Incontinentia pigmenti
- ORPHA:464 Incontinentia pigmenti
- OMIM:614559 Infantile cerebellar-retinal degeneration
- ORPHA:206436 Infantile Krabbe disease
- OMIM:615438 Infantile liver failure syndrome 1
- OMIM:618641 Infantile liver failure syndrome 3
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:411629 Infantile nephropathic cystinosis
- ORPHA:772 Infantile Refsum disease
- OMIM:269920 Infantile sialic acid storage disease
- ORPHA:2176 Infantile systemic hyalinosis
- ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- OMIM:266600 Inflammatory bowel disease 1, Crohn disease
- OMIM:191390 Inflammatory bowel disease 11
- OMIM:613148 Inflammatory bowel disease 28, early onset, autosomal recessive
- OMIM:618213 Inflammatory bowel disease, immunodeficiency, and encephalopathy
- ORPHA:90003 Inflammatory pseudotumor of the liver
- OMIM:614328 Inflammatory skin and bowel disease, neonatal, 1
- OMIM:616069 Inflammatory skin and bowel disease, neonatal, 2
- ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- ORPHA:63259 Iniencephaly
- ORPHA:411593 Insulin autoimmune syndrome
- OMIM:608747 Insulin-Like growth factor I deficiency
- OMIM:270450 Insulin-Like growth factor I, resistance to
- ORPHA:2297 Insulin-resistance syndrome type A
- ORPHA:2298 Insulin-resistance syndrome type B
- ORPHA:97279 Insulinoma
- OMIM:618522 Intellectual developmental disorder 59
- OMIM:618793 Intellectual developmental disorder 62
- OMIM:619326 Intellectual developmental disorder and hypogonadotropic hypogonadism
- OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
- OMIM:615032 Intellectual developmental disorder with autism and macrocephaly
- OMIM:618725 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
- OMIM:618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
- OMIM:617333 Intellectual developmental disorder with dysmorphic facies and ptosis
- OMIM:617452 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
- OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
- OMIM:619556 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:620007 Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
- OMIM:619844 Intellectual developmental disorder with or without peripheral neuropathy
- OMIM:618687 Intellectual developmental disorder with short stature and behavioral abnormalities
- OMIM:618453 Intellectual developmental disorder with short stature and variable skeletal anomalies
- OMIM:606220 Intellectual developmental disorder with short stature, facial anomalies, and speech defects
- 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:615834 Intellectual developmental disorder, autosomal dominant 26
- OMIM:616311 Intellectual developmental disorder, autosomal dominant 33
- OMIM:616977 Intellectual developmental disorder, autosomal dominant 43
- OMIM:617600 Intellectual developmental disorder, autosomal dominant 45
- 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:618106 Intellectual developmental disorder, autosomal dominant 58
- OMIM:619188 Intellectual developmental disorder, autosomal dominant 64
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:613192 Intellectual developmental disorder, autosomal recessive 13
- OMIM:614345 Intellectual developmental disorder, autosomal recessive 24
- OMIM:615817 Intellectual developmental disorder, autosomal recessive 43
- OMIM:616116 Intellectual developmental disorder, autosomal recessive 46
- OMIM:611091 Intellectual developmental disorder, autosomal recessive 5
- OMIM:617432 Intellectual developmental disorder, autosomal recessive 60
- OMIM:618295 Intellectual developmental disorder, autosomal recessive 67
- OMIM:618302 Intellectual developmental disorder, autosomal recessive 68
- OMIM:618665 Intellectual developmental disorder, autosomal recessive 72
- OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
- OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type
- OMIM:301039 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:3079 Intellectual disability, Buenos-Aires type
- ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
- ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome
- ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome
- ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy 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:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome
- ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked
- ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome
- ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
- ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome
- ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome
- ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
- ORPHA:363528 Intellectual disability-strabismus syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- OMIM:243110 INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO
- ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa
- OMIM:615486 Interstitial lung and liver disease
- OMIM:263000 Interstitial pneumonitis, desquamative, familial
- OMIM:620045 Intestinal dysmotility syndrome
- ORPHA:69665 Intrahepatic cholestasis of pregnancy
- ORPHA:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
- OMIM:600546 Intrauterine growth retardation with increased mitomycin C sensitivity
- 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
- OMIM:243320 Intrinsic factor and R binder, combined congenital deficiency of
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- ORPHA:84142 Isaacs syndrome
- OMIM:147891 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:563609 Isolated anencephaly
- ORPHA:30391 Isolated biliary atresia
- ORPHA:199302 Isolated cleft lip
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:141152 Isolated congenital hypoglossia/aglossia
- ORPHA:52901 Isolated follicle stimulating hormone deficiency
- ORPHA:408 Isolated glycerol kinase deficiency
- OMIM:173100 Isolated growth hormone deficiency, type II
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- OMIM:618160 Isolated growth hormone deficiency, type V
- ORPHA:2128 Isolated hemihyperplasia
- ORPHA:137902 Isolated optic nerve hypoplasia/aplasia
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:3208 Isolated succinate-CoQ reductase deficiency
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- ORPHA:2306 Isotretinoin-like syndrome
- ORPHA:2307 IVIC syndrome
Code pathologie
Nom de la pathologie
- OMIM:617988 Jaberi-Elahi syndrome
- 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:617662 Joint laxity, short stature, and myopia
- OMIM:300804 Joubert syndrome 10
- OMIM:614424 Joubert syndrome 14
- OMIM:614815 Joubert syndrome 18
- OMIM:608091 Joubert syndrome 2
- OMIM:615665 Joubert syndrome 22
- OMIM:616784 Joubert syndrome 26
- OMIM:617757 Joubert syndrome 32
- OMIM:619185 Joubert syndrome 37
- OMIM:619476 Joubert syndrome 38
- OMIM:619562 Joubert syndrome 39
- OMIM:612291 Joubert syndrome 8
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:2319 Juberg-Hayward syndrome
- ORPHA:79405 Junctional epidermolysis bullosa inversa
- ORPHA:300605 Juvenile amyotrophic lateral sclerosis
- ORPHA:93672 Juvenile dermatomyositis
- ORPHA:411634 Juvenile nephropathic cystinosis
- ORPHA:2801 Juvenile Paget disease
- ORPHA:79076 Juvenile polyposis of infancy
- OMIM:174900 Juvenile polyposis syndrome
- ORPHA:2929 Juvenile polyposis syndrome
- ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2322 Kabuki syndrome
- OMIM:147920 Kabuki syndrome 1
- OMIM:300867 Kabuki syndrome 2
- ORPHA:254519 Kagami-Ogata syndrome
- ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
- 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
- ORPHA:33276 Kaposi sarcoma
- OMIM:244300 Kapur-Toriello syndrome
- ORPHA:2328 Kapur-Toriello syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- OMIM:619125 Kaya-Barakat-Masson syndrome
- OMIM:148050 KBG syndrome
- ORPHA:2332 KBG syndrome
- ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability
- OMIM:530000 Kearns-Sayre syndrome
- ORPHA:2662 Keipert syndrome
- OMIM:244460 Kenny-caffey syndrome, type 1
- OMIM:127000 Kenny-caffey syndrome, type 2
- ORPHA:435628 Keppen-Lubinsky syndrome
- OMIM:614098 Keppen-Lubinsky syndrome
- OMIM:244600 Keratoconus posticus circumscriptus
- OMIM:308830 Keratosis follicularis, dwarfism, and cerebral atrophy
- ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome
- ORPHA:85202 Keutel syndrome
- OMIM:245150 Keutel syndrome
- OMIM:618460 Khan-Khan-Katsanis syndrome
- ORPHA:477 KID syndrome
- ORPHA:50918 Kikuchi-Fujimoto disease
- OMIM:619542 King-Denborough syndrome
- OMIM:619297 KINSSHIP syndrome
- ORPHA:99978 Klatskin tumor
- OMIM:610253 Kleefstra syndrome
- ORPHA:261494 Kleefstra syndrome
- OMIM:617768 Kleefstra syndrome 2
- ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion
- ORPHA:261652 Kleefstra syndrome due to a point mutation
- OMIM:616549 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:149000 Klippel-Trenaunay-Weber syndrome
- OMIM:156550 Kniest dysplasia
- ORPHA:485 Kniest dysplasia
- OMIM:245160 Kniest-Like dysplasia with pursed lips and ectopia lentis
- OMIM:245190 Kniest-Like dysplasia, lethal
- 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
- OMIM:616592 Kosaki overgrowth syndrome
- OMIM:245200 Krabbe disease
- OMIM:619762 Kury-Isidor syndrome
- OMIM:211350 Kyphomelic dysplasia
- ORPHA:1801 Kyphomelic dysplasia
- ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome
- ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Code pathologie
Nom de la pathologie
- ORPHA:530983 Lamb-Shaffer syndrome
- ORPHA:1296 Lambert syndrome
- OMIM:245552 Lambotte syndrome
- ORPHA:313 Lamellar ichthyosis
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy
- OMIM:262500 Laron syndrome
- ORPHA:633 Laron syndrome
- OMIM:150250 Larsen syndrome
- ORPHA:503 Larsen syndrome
- ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome
- OMIM:608545 Larsen-Like syndrome
- ORPHA:100083 Laryngeal neuroendocrine tumor
- ORPHA:93941 Laryngotracheoesophageal cleft type 4
- ORPHA:1202 Larynx atresia
- 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
- OMIM:601086 Laterality defects, autosomal dominant
- OMIM:607330 Lathosterolosis
- ORPHA:46059 Lathosterolosis
- OMIM:245800 Laurence-Moon syndrome
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:330015 Lead poisoning
- OMIM:204000 Leber congenital amaurosis, type I
- ORPHA:2380 Legg-Calvé-Perthes disease
- OMIM:150600 Legg-Calve-Perthes disease
- ORPHA:137605 Legius syndrome
- OMIM:256000 Leigh syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:70474 Leigh syndrome with cardiomyopathy
- ORPHA:255241 Leigh syndrome with leukodystrophy
- ORPHA:255249 Leigh syndrome with nephrotic syndrome
- OMIM:220111 Leigh syndrome, french Canadian type
- OMIM:308940 Leiomyomatosis, diffuse, with alport syndrome
- ORPHA:507 Leishmaniasis
- OMIM:151050 Lenz-Majewski hyperostotic dwarfism
- ORPHA:2658 Lenz-Majewski hyperostotic dwarfism
- OMIM:151100 Leopard syndrome 1
- OMIM:611554 Leopard syndrome 2
- OMIM:613707 Leopard syndrome 3
- ORPHA:508 Leprechaunism
- OMIM:614962 Leptin deficiency or dysfunction
- OMIM:614963 Leptin receptor deficiency
- ORPHA:2900 Leri pleonosteosis
- OMIM:300322 Lesch-Nyhan syndrome
- OMIM:618681 Lessel-Kubisch syndrome
- ORPHA:158687 Lethal acantholytic erosive disorder
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:615368 Lethal congenital contracture syndrome 5
- OMIM:616503 Lethal congenital contracture syndrome 9
- ORPHA:1486 Lethal congenital contracture syndrome type 1
- ORPHA:1972 Lethal faciocardiomelic dysplasia
- ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:2347 Lethal Kniest-like dysplasia
- ORPHA:1832 Lethal osteosclerotic bone dysplasia
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:616420 Leukodystrophy, hypomyelinating, 10
- OMIM:616494 Leukodystrophy, hypomyelinating, 11
- OMIM:616881 Leukodystrophy, hypomyelinating, 13
- OMIM:617899 Leukodystrophy, hypomyelinating, 14
- OMIM:617951 Leukodystrophy, hypomyelinating, 15
- OMIM:617964 Leukodystrophy, hypomyelinating, 16
- OMIM:618006 Leukodystrophy, hypomyelinating, 17
- OMIM:618404 Leukodystrophy, hypomyelinating, 18
- OMIM:619310 Leukodystrophy, hypomyelinating, 21
- OMIM:619851 Leukodystrophy, hypomyelinating, 24
- OMIM:260600 Leukodystrophy, hypomyelinating, 3
- OMIM:612438 Leukodystrophy, hypomyelinating, 6
- 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
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- OMIM:246500 Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis
- ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- OMIM:614037 Leukotriene C4 synthase deficiency
- OMIM:619189 Li-Campeau syndrome
- OMIM:618889 Liberfarb syndrome
- OMIM:616291 Lichtenstein-Knorr syndrome
- ORPHA:99812 LIG4 syndrome
- OMIM:606593 Lig4 syndrome
- ORPHA:2612 Linear nevus sebaceus syndrome
- OMIM:309801 Linear skin defects with multiple congenital anomalies 1
- OMIM:300887 Linear skin defects with multiple congenital anomalies 2
- OMIM:300952 Linear skin defects with multiple congenital anomalies 3
- ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:612526 Lipodystrophy, congenital generalized, type 3
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- OMIM:615980 Lipodystrophy, familial partial, type 6
- OMIM:606721 Lipodystrophy, familial partial, type 7
- OMIM:608154 Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones
- ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome
- ORPHA:69078 Liposarcoma
- OMIM:614019 Lissencephaly 4
- OMIM:618325 Lissencephaly 9 with complex brainstem malformation
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome
- OMIM:300067 Lissencephaly, X-linked, 1
- OMIM:619991 Liver disease, severe congenital
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form
- ORPHA:90289 Localized scleroderma
- ORPHA:75566 Loeffler endocarditis
- ORPHA:60030 Loeys-Dietz syndrome
- OMIM:609192 Loeys-Dietz syndrome 1
- OMIM:610168 Loeys-Dietz syndrome 2
- OMIM:613795 Loeys-Dietz syndrome 3
- OMIM:614816 Loeys-Dietz syndrome 4
- OMIM:615582 Loeys-Dietz syndrome 5
- OMIM:619656 Loeys-Dietz syndrome 6
- ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- ORPHA:69663 Low phospholipid-associated cholelithiasis
- OMIM:309000 Lowe syndrome
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- ORPHA:2409 Lowry-MacLean syndrome
- OMIM:600252 Lowry-Maclean syndrome
- OMIM:226960 Lowry-Wood syndrome
- ORPHA:1824 Lowry-Wood syndrome
- ORPHA:776 Lujan-Fryns syndrome
- OMIM:309520 Lujan-Fryns syndrome
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:619460 Luo-Schoch-Yamamoto syndrome
- OMIM:616831 Luscan-Lumish syndrome
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- OMIM:616843 Lymphedema, hereditary, III
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- ORPHA:79128 Lymphoid interstitial pneumonia
- 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
- OMIM:278000 Lysosomal acid lipase deficiency
Code pathologie
Nom de la pathologie
- OMIM:247990 Macdermot-Winter syndrome
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- OMIM:617011 Macrocephaly, dysmorphic facies, and psychomotor retardation
- OMIM:619769 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome
- OMIM:605309 Macrocephaly/autism syndrome
- OMIM:248010 Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
- OMIM:248100 Macrosomia adiposa congenita
- OMIM:248110 Macrosomia with microphthalmia, lethal
- ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:163634 Maffucci syndrome
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- OMIM:609628 Majeed syndrome
- ORPHA:77297 Majeed syndrome
- ORPHA:420179 Malan overgrowth syndrome
- OMIM:614753 Malan syndrome
- ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- ORPHA:679 Malignant atrophic papulosis
- ORPHA:168811 Malignant peritoneal mesothelioma
- OMIM:248360 Malonyl-CoA decarboxylase deficiency
- ORPHA:52417 MALT lymphoma
- ORPHA:397941 MAN1B1-CDG
- OMIM:248370 Mandibuloacral dysplasia
- ORPHA:2457 Mandibuloacral dysplasia
- OMIM:619127 Mandibuloacral dysplasia progeroid syndrome
- ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy
- OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy
- ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy
- OMIM:610536 Mandibulofacial dysostosis, Guion-Almeida type
- ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome
- OMIM:614372 Mannose-Binding lectin deficiency
- ORPHA:52416 Mantle cell lymphoma
- OMIM:248600 Maple syrup urine disease
- OMIM:619322 Marbach-Rustad progeroid syndrome
- OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome
- ORPHA:91412 Marcus-Gunn syndrome
- ORPHA:2461 Marden-Walker syndrome
- OMIM:248700 Marden-Walker syndrome
- OMIM:616914 Marfan lipodystrophy syndrome
- OMIM:154700 Marfan syndrome
- ORPHA:558 Marfan syndrome
- OMIM:248760 Marfanoid habitus with microcephaly and glomerulonephritis
- OMIM:609008 Marfanoid habitus with situs inversus
- ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome
- OMIM:154750 Marfanoid hypermobility syndrome
- OMIM:248800 Marinesco-Sjogren syndrome
- ORPHA:559 Marinesco-Sjögren syndrome
- ORPHA:560 Marshall syndrome
- OMIM:154780 Marshall syndrome
- OMIM:602535 Marshall-Smith syndrome
- ORPHA:561 Marshall-Smith syndrome
- OMIM:601346 Martinez-Frias syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:619420 Martsolf syndrome 2
- OMIM:303350 MASA syndrome
- ORPHA:2466 MASA syndrome
- OMIM:604308 Mass syndrome
- ORPHA:66661 Mast cell sarcoma
- ORPHA:2216 Maternal hyperthermia-induced birth defects
- ORPHA:2209 Maternal phenylketonuria
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:96179 Maternal uniparental disomy of chromosome 2
- ORPHA:96180 Maternal uniparental disomy of chromosome 4
- ORPHA:96181 Maternal uniparental disomy of chromosome 6
- ORPHA:96183 Maternal uniparental disomy of chromosome 9
- ORPHA:261519 Maternal uniparental disomy of chromosome X
- ORPHA:2470 Matthew-Wood syndrome
- OMIM:613370 Maturity-onset diabetes of the young, type 10
- OMIM:613375 Maturity-onset diabetes of the young, type 11
- OMIM:616329 Maturity-onset diabetes of the young, type 13
- ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2
- ORPHA:562 McCune-Albright syndrome
- OMIM:174800 McCune-Albright syndrome, somatic, mosaic
- ORPHA:2471 McDonough syndrome
- ORPHA:2473 McKusick-Kaufman syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:616258 Meckel syndrome 12
- OMIM:603194 Meckel syndrome, type 2
- OMIM:611134 Meckel syndrome, type 4
- ORPHA:70588 Meconium aspiration syndrome
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- ORPHA:1309 Medullary sponge kidney
- ORPHA:1332 Medullary thyroid carcinoma
- OMIM:618273 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- OMIM:249230 Megaepiphyseal dwarfism
- ORPHA:2477 Megalencephaly
- ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- OMIM:603387 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- ORPHA:2479 Megalocornea-intellectual disability syndrome
- OMIM:249310 Megalocornea-Mental retardation syndrome
- 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
- ORPHA:550 MELAS
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- ORPHA:2485 Melorheostosis
- OMIM:300960 Mend syndrome
- ORPHA:401973 MEND syndrome
- ORPHA:2494 Ménétrier disease
- ORPHA:2495 Meningioma
- ORPHA:565 Menkes disease
- OMIM:309400 Menkes disease
- OMIM:156190 Mental and growth retardation with amblyopia
- OMIM:300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
- OMIM:249599 Mental retardation syndrome, Belgian type
- OMIM:249600 Mental retardation syndrome, Mietens-Weber type
- OMIM:300261 Mental retardation syndrome, X-linked, Armfield type
- OMIM:613670 Mental retardation with language impairment and with or without autistic features
- OMIM:609037 Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature
- OMIM:156200 Mental retardation, autosomal dominant 1
- OMIM:616078 Mental retardation, autosomal dominant 29
- OMIM:616355 Mental retardation, autosomal dominant 35
- OMIM:616521 Mental retardation, autosomal dominant 39
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:617635 Mental retardation, autosomal dominant 47
- OMIM:617752 Mental retardation, autosomal dominant 49
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:614104 Mental retardation, autosomal dominant 7
- OMIM:614340 Mental retardation, autosomal recessive 27
- OMIM:614342 Mental retardation, autosomal recessive 30
- OMIM:615162 Mental retardation, autosomal recessive 35
- OMIM:615541 Mental retardation, autosomal recessive 39
- OMIM:616917 Mental retardation, autosomal recessive 53
- OMIM:617270 Mental retardation, autosomal recessive 58
- OMIM:611095 Mental retardation, autosomal recessive 9
- OMIM:249630 Mental retardation, buenos Aires type
- OMIM:609313 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
- OMIM:606242 Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism
- OMIM:606772 Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies
- OMIM:309620 Mental retardation, skeletal dysplasia, and abducens palsy
- OMIM:610156 Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome
- OMIM:301013 Mental retardation, X-linked 107
- OMIM:300957 Mental retardation, X-linked 12/35
- OMIM:300844 Mental retardation, X-linked 19
- OMIM:300428 Mental retardation, X-linked 2
- OMIM:300558 Mental retardation, X-linked 30
- OMIM:300498 Mental retardation, X-linked 45
- OMIM:300271 Mental retardation, X-linked 72
- OMIM:300505 Mental retardation, X-linked 84
- OMIM:300577 Mental retardation, X-linked 91
- OMIM:300851 Mental retardation, X-linked 92
- OMIM:300699 Mental retardation, X-linked 94
- OMIM:300803 Mental retardation, X-linked 97
- 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:300799 Mental retardation, x-linked syndromic, Raymond type
- OMIM:309590 Mental retardation, x-linked syndromic, Turner type
- OMIM:300238 Mental retardation, X-linked, syndromic 11
- OMIM:309545 Mental retardation, X-linked, syndromic 12
- OMIM:300055 Mental retardation, X-linked, syndromic 13
- OMIM:300676 Mental retardation, X-linked, syndromic 14
- OMIM:300966 Mental retardation, X-linked, syndromic 33
- OMIM:300967 Mental retardation, X-linked, syndromic 34
- OMIM:300998 Mental retardation, X-linked, syndromic, 35
- OMIM:300986 Mental retardation, X-linked, syndromic, Bain type
- 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:300123 Mental retardation, X-linked, with isolated growth hormone deficiency
- ORPHA:508093 MEPAN syndrome
- ORPHA:551 MERRF
- OMIM:249670 Mesoaxial hexadactyly and cardiac malformation
- OMIM:600383 Mesomelia-Synostoses syndrome
- ORPHA:2496 Mesomelia-synostoses syndrome
- OMIM:156230 Mesomelic dwarfism of hypoplastic tibia and Radius type
- ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type
- ORPHA:1836 Mesomelic dysplasia, Kantaputra type
- ORPHA:2633 Mesomelic dysplasia, Nievergelt type
- OMIM:605274 Mesomelic dysplasia, Savarirayan type
- ORPHA:85170 Mesomelic dysplasia, Savarirayan type
- OMIM:250215 Metaphyseal acroscyphodysplasia
- ORPHA:1240 Metaphyseal acroscyphodysplasia
- ORPHA:1040 Metaphyseal anadysplasia
- OMIM:156400 Metaphyseal chondrodysplasia, Jansen type
- OMIM:250230 Metaphyseal chondrodysplasia, Kaitila type
- ORPHA:174 Metaphyseal chondrodysplasia, Schmid type
- OMIM:156500 Metaphyseal chondrodysplasia, Schmid type
- ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type
- OMIM:250400 Metaphyseal chondrodysplasia, Spahr type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- OMIM:250420 Metaphyseal dysostosis, mental retardation, and conductive deafness
- ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- OMIM:156510 Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
- OMIM:250460 Metaphyseal dysplasia without hypotrichosis
- ORPHA:2635 Metatropic dysplasia
- OMIM:156530 Metatropic dysplasia
- OMIM:250800 Methemoglobinemia due to deficiency of methemoglobin reductase
- ORPHA:1923 Methimazole embryofetopathy
- ORPHA:2169 Methylcobalamin deficiency type cblE
- OMIM:309541 Methylmalonic acidemia and homocysteinemia, Cblx type
- ORPHA:26 Methylmalonic acidemia with homocystinuria
- ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD
- OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc 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:251110 Methylmalonic aciduria, vitamin B12-responsive, cblB type
- OMIM:251120 Methylmalonyl-Coa epimerase deficiency
- ORPHA:29 Mevalonic aciduria
- OMIM:610377 Mevalonic aciduria
- ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:79329 MGAT2-CDG
- ORPHA:2510 Micro syndrome
- ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome
- ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency
- ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- 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:251190 Microcephalic primordial dwarfism, Toriello type
- ORPHA:2643 Microcephalic primordial dwarfism, Toriello type
- ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome
- OMIM:615095 Microcephaly 10, primary, autosomal recessive
- OMIM:615414 Microcephaly 11, primary, autosomal recessive
- OMIM:616051 Microcephaly 13, primary, autosomal recessive
- OMIM:616681 Microcephaly 16, primary, autosomal recessive
- OMIM:617090 Microcephaly 17, primary, autosomal recessive
- OMIM:617800 Microcephaly 19, primary, autosomal recessive
- OMIM:604317 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
- OMIM:617914 Microcephaly 20, primary, autosomal recessive
- OMIM:617983 Microcephaly 21, primary, autosomal recessive
- OMIM:617984 Microcephaly 22, primary, autosomal recessive
- OMIM:617985 Microcephaly 23, primary, autosomal recessive
- OMIM:619179 Microcephaly 26, primary, autosomal dominant
- OMIM:604804 Microcephaly 3, primary, autosomal recessive
- OMIM:604321 Microcephaly 4, primary, autosomal recessive
- OMIM:608716 Microcephaly 5, primary, autosomal recessive
- OMIM:251270 Microcephaly and chorioretinopathy, autosomal recessive, 1
- OMIM:616171 Microcephaly and chorioretinopathy, autosomal recessive, 2
- OMIM:251250 Microcephaly with cervical spine fusion anomalies
- OMIM:156580 Microcephaly, autosomal dominant
- OMIM:618284 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
- OMIM:614407 Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome
- OMIM:616834 Microcephaly, congenital cataract, and psoriasiform dermatitis
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:619278 Microcephaly, epilepsy, and diabetes syndrome 2
- OMIM:618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- OMIM:618346 Microcephaly, growth deficiency, seizures, and brain malformations
- OMIM:618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2
- OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
- OMIM:613668 Microcephaly, postnatal progressive, with seizures and brain atrophy
- OMIM:251200 Microcephaly, primary autosomal recessive, 1
- OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications
- OMIM:616033 Microcephaly, short stature, and impaired glucose metabolism 1
- OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2
- OMIM:617604 Microcephaly, short stature, and limb abnormalities
- OMIM:614833 Microcephaly, short stature, and polymicrogyria with or without seizures
- ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome
- OMIM:614261 Microcephaly-Capillary malformation syndrome
- ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome
- ORPHA:2515 Microcephaly-cardiomyopathy syndrome
- ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome
- ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome
- ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type
- OMIM:251230 Microcephaly-Micromelia syndrome
- ORPHA:217377 Microduplication Xp11.22p11.23 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
- OMIM:605013 MICROHYDRANENCEPHALY
- ORPHA:50810 Microlissencephaly-micromelia syndrome
- OMIM:206920 Microphthalmia with limb anomalies
- ORPHA:1106 Microphthalmia with limb anomalies
- ORPHA:2556 Microphthalmia with linear skin defects syndrome
- ORPHA:568 Microphthalmia, Lenz type
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:300915 Microphthalmia, syndromic 13
- OMIM:300166 Microphthalmia, syndromic 2
- OMIM:206900 Microphthalmia, syndromic 3
- OMIM:610125 Microphthalmia, syndromic 5
- OMIM:607932 Microphthalmia, syndromic 6
- OMIM:601186 Microphthalmia, syndromic 9
- OMIM:615877 Microphthalmia/coloboma and skeletal dysplasia syndrome
- ORPHA:2552 Microsporidiosis
- ORPHA:289522 Microtriplication 11q24.1
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- OMIM:608624 Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- ORPHA:2557 Mietens syndrome
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:531 Miller-Dieker syndrome
- OMIM:617053 Mirage syndrome
- ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome
- OMIM:615710 Mitchell-Riley syndrome
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618234 Mitochondrial complex I deficiency, nuclear type 11
- OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15
- OMIM:618238 Mitochondrial complex I deficiency, nuclear type 16
- OMIM:618242 Mitochondrial complex I deficiency, nuclear type 21
- OMIM:618243 Mitochondrial complex I deficiency, nuclear type 22
- OMIM:618244 Mitochondrial complex I deficiency, nuclear type 23
- OMIM:618246 Mitochondrial complex I deficiency, nuclear type 25
- OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28
- OMIM:618250 Mitochondrial complex I deficiency, nuclear type 29
- OMIM:301021 Mitochondrial complex I deficiency, nuclear type 30
- OMIM:618251 Mitochondrial complex I deficiency, nuclear type 31
- OMIM:618252 Mitochondrial complex I deficiency, nuclear type 32
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:618776 Mitochondrial complex I deficiency, nuclear type 34
- OMIM:619003 Mitochondrial complex I deficiency, nuclear type 35
- OMIM:619272 Mitochondrial complex I deficiency, nuclear type 37
- OMIM:620135 Mitochondrial complex I deficiency, nuclear type 39
- OMIM:618226 Mitochondrial complex I deficiency, nuclear type 5
- OMIM:618228 Mitochondrial complex I deficiency, nuclear type 6
- OMIM:618229 Mitochondrial complex I deficiency, nuclear type 7
- OMIM:252011 Mitochondrial complex II deficiency
- OMIM:619166 Mitochondrial complex II deficiency, nuclear type 2
- OMIM:124000 Mitochondrial complex III deficiency, nuclear type 1
- OMIM:618775 Mitochondrial complex III deficiency, nuclear type 10
- OMIM:615160 Mitochondrial complex III deficiency, nuclear type 5
- OMIM:615453 Mitochondrial complex III deficiency, nuclear type 6
- OMIM:615824 Mitochondrial complex III deficiency, nuclear type 7
- OMIM:615838 Mitochondrial complex III deficiency, nuclear type 8
- OMIM:616111 Mitochondrial complex III deficiency, nuclear type 9
- OMIM:220110 Mitochondrial complex IV deficiency, nuclear type 1
- OMIM:619054 Mitochondrial complex IV deficiency, nuclear type 11
- OMIM:619055 Mitochondrial complex IV deficiency, nuclear type 12
- OMIM:619058 Mitochondrial complex IV deficiency, nuclear type 14
- OMIM:619059 Mitochondrial complex IV deficiency, nuclear type 15
- OMIM:619060 Mitochondrial complex IV deficiency, nuclear type 16
- OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 20
- OMIM:619065 Mitochondrial complex IV deficiency, nuclear type 21
- OMIM:619355 Mitochondrial complex IV deficiency, nuclear type 22
- OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3
- OMIM:619048 Mitochondrial complex IV deficiency, nuclear type 4
- OMIM:619051 Mitochondrial complex IV deficiency, nuclear type 7
- OMIM:619052 Mitochondrial complex IV deficiency, nuclear type 8
- 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:603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- OMIM:615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:617156 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
- OMIM:618811 Mitochondrial DNA depletion syndrome 18
- OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- OMIM:203700 Mitochondrial DNA depletion syndrome 4A (Alpers type)
- OMIM:613662 Mitochondrial DNA depletion syndrome 4B (mngie type)
- OMIM:612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
- OMIM:256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- OMIM:612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- OMIM:245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
- ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form
- ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome
- ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia
- OMIM:251950 Mitochondrial myopathy with lactic acidosis
- OMIM:540000 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
- OMIM:500009 Mitochondrial myopathy, infantile, transient
- ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- OMIM:609015 Mitochondrial trifunctional protein deficiency
- ORPHA:746 Mitochondrial trifunctional protein deficiency
- OMIM:157700 Mitral valve prolapse 1
- ORPHA:552 MODY
- OMIM:252100 Mohr syndrome
- OMIM:252150 Molybdenum cofactor deficiency, complementation group A
- OMIM:252160 Molybdenum cofactor deficiency, complementation group B
- OMIM:157980 MOMO syndrome
- ORPHA:2563 MOMO syndrome
- ORPHA:1587 Monosomy 13q14
- ORPHA:96168 Monosomy 13q34
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:281 Monosomy 5p
- ORPHA:77301 Monosomy 9q22.3
- ORPHA:99226 Monosomy X
- OMIM:615703 Morbid obesity and spermatogenic failure
- ORPHA:77296 Morgagni-Stewart-Morel syndrome
- ORPHA:75858 MORM syndrome
- OMIM:252300 Morquio syndrome C
- ORPHA:99228 Mosaic monosomy X
- 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:614114 Mosaic variegated aneuploidy syndrome 2
- 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
- ORPHA:2574 Moynahan syndrome
- ORPHA:79319 MPI-CDG
- ORPHA:100024 Mu-heavy chain disease
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:252500 Mucolipidosis II alpha/beta
- OMIM:252600 Mucolipidosis III alpha/beta
- OMIM:252605 Mucolipidosis III gamma
- ORPHA:576 Mucolipidosis type II
- ORPHA:577 Mucolipidosis type III
- OMIM:252700 Mucopolysaccharidoses, unclassified types
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:582 Mucopolysaccharidosis type 4
- ORPHA:583 Mucopolysaccharidosis type 6
- OMIM:252900 Mucopolysaccharidosis type IIIA
- OMIM:252930 Mucopolysaccharidosis type IIIC
- OMIM:253010 Mucopolysaccharidosis type IVB (Morquio)
- OMIM:601492 Mucopolysaccharidosis type IX
- OMIM:253220 Mucopolysaccharidosis VII
- OMIM:252940 Mucopolysaccharidosis, type IIID
- OMIM:253200 Mucopolysaccharidosis, type VI
- OMIM:619698 Mucopolysaccharidosis, type X
- OMIM:602849 Muenke syndrome
- OMIM:617352 Mulchandani-Bhoj-Conlin syndrome
- OMIM:253250 Mulibrey nanism
- ORPHA:2576 Mulibrey nanism
- OMIM:601076 Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies
- ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy
- OMIM:259600 Multicentric osteolysis, nodulosis, and arthropathy
- ORPHA:139436 Multicentric reticulohistiocytosis
- OMIM:253320 Multicore myopathy with mental retardation, short stature, and hypogonadotropichypogonadism
- ORPHA:598 Multiminicore myopathy
- ORPHA:2505 Multiple benign circumferential skin creases on limbs
- 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
- OMIM:162300 Multiple endocrine neoplasia, type IIB
- ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly
- ORPHA:93308 Multiple epiphyseal dysplasia type 1
- ORPHA:93307 Multiple epiphyseal dysplasia type 4
- ORPHA:93311 Multiple epiphyseal dysplasia type 5
- ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type
- ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type
- ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type
- OMIM:245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
- ORPHA:93430 Multiple metaphyseal dysplasia
- OMIM:605711 Multiple mitochondrial dysfunctions syndrome 1
- OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3
- OMIM:617613 Multiple mitochondrial dysfunctions syndrome 5
- OMIM:617954 Multiple mitochondrial dysfunctions syndrome 6
- ORPHA:29073 Multiple myeloma
- ORPHA:321 Multiple osteochondromas
- OMIM:253290 Multiple pterygium syndrome, Lethal type
- OMIM:312150 Multiple pterygium syndrome, X-linked
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- OMIM:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:613205 Muscular dystrophy, congenital, lmna-related
- OMIM:617404 Muscular dystrophy, congenital, with cataracts and intellectual disability
- OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18
- OMIM:608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6
- ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:616224 Myasthenic syndrome, congenital, 22
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- 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:619178 Myofibrillar myopathy 11
- ORPHA:536516 Myopathic Ehlers-Danlos syndrome
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:255140 Myopathy with giant abnormal mitochondria
- OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- OMIM:255200 Myopathy, centronuclear, 2
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:612540 Myopathy, congenital, compton-north
- OMIM:618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- OMIM:255310 Myopathy, congenital, with fiber-type disproportion
- OMIM:300580 Myopathy, congenital, with fiber-type disproportion, X-linked
- OMIM:618822 Myopathy, congenital, with respiratory insufficiency and bone fractures
- OMIM:616209 Myopathy, isolated mitochondrial, autosomal dominant
- OMIM:600462 Myopathy, lactic acidosis, and sideroblastic anemia 1
- OMIM:613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:255160 Myopathy, myosin storage, autosomal recessive
- OMIM:255600 Myosclerosis, autosomal recessive
- ORPHA:99735 Myotonia permanens
- OMIM:255710 Myotonia with skeletal abnormalities and mental retardation
Code pathologie
Nom de la pathologie
- OMIM:614063 N-ACETYLASPARTATE DEFICIENCY
- OMIM:237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- OMIM:161200 Nail-Patella syndrome
- ORPHA:2613 Nail-patella-like renal disease
- OMIM:614250 Narcolepsy 7
- ORPHA:2073 Narcolepsy type 1
- ORPHA:644 NARP syndrome
- ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome
- OMIM:255990 Nathalie syndrome
- ORPHA:2663 Nathalie syndrome
- ORPHA:168572 Native American myopathy
- ORPHA:391673 Necrotizing enterocolitis
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- OMIM:161800 Nemaline myopathy 3
- ORPHA:44 Neonatal adrenoleukodystrophy
- 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:221995 Nephrogenic diabetes insipidus - intracranial calcification
- ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
- OMIM:256100 Nephronophthisis 1
- OMIM:613550 Nephronophthisis 11
- OMIM:614377 Nephronophthisis 13
- OMIM:614845 Nephronophthisis 15
- OMIM:606966 Nephronophthisis 4
- OMIM:256300 Nephrotic syndrome, type 1
- OMIM:618176 Nephrotic syndrome, type 17
- OMIM:614008 Nestor-Guillermo progeria syndrome
- ORPHA:634 Netherton syndrome
- OMIM:256500 Netherton syndrome
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- OMIM:616038 Neu-Laxova syndrome 2
- ORPHA:2901 Neuralgic amyotrophy
- OMIM:256550 Neuraminidase deficiency
- OMIM:256700 Neuroblastoma, susceptibility to
- OMIM:619869 Neurocardiofaciodigital syndrome
- ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- OMIM:617672 Neurodegeneration, childhood-onset, with brain atrophy
- OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:615286 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
- OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
- OMIM:618571 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
- OMIM:618356 Neurodevelopmental disorder with central and peripheral motor dysfunction
- OMIM:618572 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
- OMIM:620083 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- OMIM:617755 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
- OMIM:618659 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
- OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
- OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities
- OMIM:619922 Neurodevelopmental disorder with dystonia and seizures
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:619639 Neurodevelopmental disorder with hypotonia and gross motor and seech delay
- OMIM:618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
- OMIM:619854 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
- OMIM:620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
- OMIM:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
- OMIM:618292 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
- OMIM:619373 Neurodevelopmental disorder with infantile epileptic spasms
- OMIM:619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
- OMIM:619908 Neurodevelopmental disorder with language delay and seizure
- OMIM:616281 Neurodevelopmental disorder with microcephaly and spastic paraplegia
- OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:617709 Neurodevelopmental disorder with microcephaly, ataxia, and seizures
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
- OMIM:618367 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
- OMIM:619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
- OMIM:620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- OMIM:620027 Neurodevelopmental disorder with microcephaly, short stature, and speech delay
- OMIM:617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
- OMIM:619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
- OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- OMIM:619239 Neurodevelopmental disorder with or without autism or seizures
- OMIM:617864 Neurodevelopmental disorder with or without seizures and gait abnormalities
- OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities
- OMIM:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
- OMIM:618480 Neurodevelopmental disorder with seizures and speech and walking impairment
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:615075 Neurodevelopmental disorder with spastic diplegia and visual defects
- OMIM:618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
- OMIM:618076 Neurodevelopmental disorder with spasticity and poor growth
- OMIM:620001 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
- OMIM:619989 Neurodevelopmental disorder with speech delay and variable ocular anomalies
- OMIM:619056 Neurodevelopmental disorder with speech impairment and dysmorphic facies
- OMIM:618547 Neurodevelopmental disorder with visual defects and brain anomalies
- OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
- OMIM:301022 Neurodevelopmental disorder, X-linked, with craniofacial 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:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- ORPHA:100082 Neuroendocrine tumor of anal canal
- ORPHA:100075 Neuroendocrine tumor of stomach
- ORPHA:100080 Neuroendocrine tumor of the colon
- ORPHA:100081 Neuroendocrine tumor of the rectum
- ORPHA:2673 Neurofaciodigitorenal syndrome
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- OMIM:619539 Neuroocular syndrome
- OMIM:618186 Neuropathy, congenital hypomyelinating, 3
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:614213 Neuropathy, hereditary sensory, type IIC
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- OMIM:610717 Neutral lipid storage disease with myopathy
- ORPHA:98908 Neutral lipid storage myopathy
- OMIM:202700 Neutropenia, severe congenital, 1, autosomal dominant
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- OMIM:615285 Neutropenia, severe congenital, 5, autosomal recessive
- OMIM:616022 Neutropenia, severe congenital, 6, autosomal recessive
- OMIM:618752 Neutropenia, severe congenital, 8, autosomal dominant
- OMIM:601358 Nicolaides-Baraitser syndrome
- ORPHA:3051 Nicolaides-Baraitser syndrome
- OMIM:257200 Niemann-Pick disease, type A
- OMIM:607616 Niemann-pick disease, type B
- OMIM:163400 Nievergelt syndrome
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- OMIM:613078 Nijmegen breakage syndrome-like disorder
- OMIM:600092 Nivelon-Nivelon-Mabille syndrome
- ORPHA:31204 Nocardiosis
- ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma
- ORPHA:33577 Nodular non-suppurative panniculitis
- ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- ORPHA:631 Non-acquired isolated growth hormone deficiency
- ORPHA:90695 Non-acquired panhypopituitarism
- ORPHA:1695 Non-distal trisomy 10q
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:442835 Non-specific early-onset epileptic encephalopathy
- ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis
- ORPHA:95706 Non-syndromic posterior hypospadias
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:616564 Noonan syndrome 10
- OMIM:618499 Noonan syndrome 11
- 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:613706 Noonan syndrome 7
- 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
Code pathologie
Nom de la pathologie
- OMIM:601665 OBESITY
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency
- ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency
- ORPHA:71528 Obesity due to prohormone convertase I deficiency
- ORPHA:369873 Obesity due to SIM1 deficiency
- OMIM:609734 Obesity, early-onset, with adrenal insufficiency and red hair
- OMIM:613886 Obesity, hyperphagia, and developmental delay
- ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- OMIM:257500 Obesity-Hypoventilation syndrome
- ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:2714 Oculo-palato-cerebral syndrome
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- OMIM:257790 Oculocerebral hypopigmentation syndrome of preus
- ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type
- OMIM:257800 Oculocerebral syndrome with hypopigmentation
- ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- OMIM:257850 Oculodentodigital dysplasia, autosomal recessive
- OMIM:600268 Oculoectodermal syndrome
- ORPHA:1876 Oculogastrointestinal muscular dystrophy
- OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome
- ORPHA:1794 Oculomaxillofacial dysostosis
- OMIM:257910 Oculopalatocerebral syndrome
- OMIM:164310 Oculopharyngodistal myopathy 1
- OMIM:618440 Oculoskeletodental syndrome
- ORPHA:557003 Oculoskeletodental syndrome
- ORPHA:166272 Odontochondrodysplasia
- ORPHA:276432 Ogden syndrome
- OMIM:300855 Ogden syndrome
- OMIM:249620 Ohdo syndrome
- OMIM:300895 Ohdo syndrome, X-linked
- ORPHA:2729 Okamoto syndrome
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- ORPHA:85410 Oligoarticular juvenile idiopathic arthritis
- ORPHA:2260 Oligomeganephronia
- ORPHA:2920 Oliver syndrome
- OMIM:275400 Oliver-Mcfarlane syndrome
- OMIM:603554 Omenn syndrome
- ORPHA:39041 Omenn syndrome
- OMIM:164745 OMODYSPLASIA
- OMIM:258315 Omodysplasia 1
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- ORPHA:2745 Opitz GBBB syndrome
- OMIM:300000 Opitz GBBB syndrome
- OMIM:305450 Opitz-Kaveggia syndrome
- ORPHA:2746 Opsismodysplasia
- OMIM:258480 Opsismodysplasia
- OMIM:617302 Optic atrophy 11
- ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:401777 Optic atrophy-intellectual disability syndrome
- ORPHA:2086 Optic pathway glioma
- OMIM:311250 Ornithine transcarbamylase deficiency, hyperammonemia due to
- OMIM:311200 Orofaciodigital syndrome I
- OMIM:258860 Orofaciodigital syndrome IV
- OMIM:258865 Orofaciodigital syndrome IX
- ORPHA:2751 Orofaciodigital syndrome type 2
- ORPHA:2753 Orofaciodigital syndrome type 4
- ORPHA:2754 Orofaciodigital syndrome type 6
- OMIM:277170 Orofaciodigital syndrome VI
- OMIM:300484 Orofaciodigital syndrome VIII
- OMIM:617926 Orofaciodigital syndrome XVII
- OMIM:617927 Orofaciodigital syndrome XVIII
- ORPHA:93958 Oromandibular dystonia
- OMIM:258900 Orotic aciduria
- ORPHA:2760 OSLAM syndrome
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:604864 Osteoarthritis with mild chondrodysplasia
- OMIM:184260 Osteochondrodysplasia
- OMIM:618167 Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- OMIM:166990 Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension
- OMIM:259270 Osteodysplasty, precocious, of danks, mayne, and kozlowski
- ORPHA:666 Osteogenesis imperfecta
- OMIM:619131 Osteogenesis imperfecta 21
- OMIM:259410 Osteogenesis imperfecta congenita, microcephaly, and cataracts
- OMIM:166200 Osteogenesis imperfecta, type I
- OMIM:166210 Osteogenesis imperfecta, type II
- OMIM:259420 Osteogenesis imperfecta, type III
- OMIM:166220 Osteogenesis imperfecta, type IV
- OMIM:259440 Osteogenesis imperfecta, type IX
- OMIM:610967 Osteogenesis imperfecta, type V
- OMIM:610682 Osteogenesis imperfecta, type VII
- OMIM:610915 Osteogenesis imperfecta, type VIII
- OMIM:613848 Osteogenesis imperfecta, type X
- OMIM:610968 Osteogenesis imperfecta, type XI
- OMIM:613849 Osteogenesis imperfecta, type XII
- OMIM:614856 Osteogenesis imperfecta, type XIII
- OMIM:615066 Osteogenesis imperfecta, type XIV
- OMIM:301014 Osteogenesis imperfecta, type XIX
- OMIM:615220 Osteogenesis imperfecta, type XV
- OMIM:616229 Osteogenesis imperfecta, type XVI
- OMIM:616507 Osteogenesis imperfecta, type XVII
- OMIM:618644 Osteogenesis imperfecta, type XX
- OMIM:619795 Osteogenesis imperfecta, type XXII
- OMIM:166250 Osteoglophonic dysplasia
- ORPHA:2645 Osteoglosphonic dysplasia
- OMIM:259610 Osteolysis syndrome, recessive
- OMIM:619377 Osteootohepatoenteric syndrome
- OMIM:300373 Osteopathia striata with cranial sclerosis
- ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome
- ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:259700 Osteopetrosis, autosomal recessive 1
- OMIM:259730 Osteopetrosis, autosomal recessive 3
- OMIM:611490 Osteopetrosis, autosomal recessive 4
- OMIM:259720 Osteopetrosis, autosomal recessive 5
- OMIM:612301 Osteopetrosis, autosomal recessive 7
- OMIM:615085 Osteopetrosis, autosomal recessive 8
- ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome
- ORPHA:2788 Osteoporosis-pseudoglioma syndrome
- OMIM:259770 Osteoporosis-pseudoglioma syndrome
- ORPHA:668 Osteosarcoma
- OMIM:615198 Osteosclerotic metaphyseal dysplasia
- ORPHA:2792 Otofaciocervical syndrome
- OMIM:601976 Otofacioosseous-Gonadal syndrome
- ORPHA:90652 Otopalatodigital syndrome type 2
- OMIM:311300 Otopalatodigital syndrome, type I
- OMIM:304120 Otopalatodigital syndrome, type II
- ORPHA:1427 Otospondylomegaepiphyseal dysplasia
- OMIM:215150 Otospondylomegaepiphyseal dysplasia
- 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:618117 Ovarian dysgenesis 7
- OMIM:618187 Ovarian dysgenesis 8
- OMIM:619665 Ovarian dysgenesis 9
- ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome
- ORPHA:31 Oxoglutaric aciduria
Code pathologie
Nom de la pathologie
- ORPHA:2309 Pachyonychia congenita
- OMIM:239000 Paget disease of bone 5, juvenile-onset
- ORPHA:991 PAGOD syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:601803 Pallister-Killian syndrome
- ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome
- OMIM:615935 Pancreatic agenesis 2
- OMIM:600001 Pancreatic agenesis and congenital heart defects
- OMIM:260370 Pancreatic agenesis, congenital
- ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome
- OMIM:609069 Pancreatic and cerebellar agenesis
- ORPHA:309108 Pancreatic colipase deficiency
- ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- ORPHA:309031 Pancreatic triacylglycerol lipase deficiency
- ORPHA:677 Pancreatoblastoma
- OMIM:312000 Panhypopituitarism, X-linked
- OMIM:120330 Papillorenal syndrome
- ORPHA:2812 Parana hard skin syndrome
- OMIM:260530 Parana hard-skin syndrome
- OMIM:168400 Parastremmatic dwarfism
- ORPHA:143 Parathyroid carcinoma
- ORPHA:567983 Parenteral nutrition-associated cholestasis
- ORPHA:90307 Parkes Weber syndrome
- OMIM:605543 Parkinson disease 4
- OMIM:619738 Parkinsonism-dystonia 3, childhood-onset
- ORPHA:1330 Partial atrioventricular septal defect
- ORPHA:261911 Partial deletion of the short arm of chromosome 7
- ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9
- ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome
- 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:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome
- ORPHA:439822 PDE4D haploinsufficiency syndrome
- OMIM:557000 Pearson marrow-pancreas syndrome
- ORPHA:699 Pearson syndrome
- OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails
- ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome
- ORPHA:525731 Pediatric-onset Graves disease
- OMIM:270300 Peeling skin syndrome 1
- OMIM:169400 Pelger-Huet anomaly
- ORPHA:702 Pelizaeus-Merzbacher disease
- OMIM:312080 Pelizaeus-Merzbacher disease
- ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers
- ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form
- OMIM:602484 Pelvic dysplasia - arthrogryposis of lower limbs
- ORPHA:2839 Pelvis-shoulder dysplasia
- OMIM:169550 Pelvis-Shoulder dysplasia
- ORPHA:93333 Pelviscapular dysplasia
- ORPHA:63275 Pemphigoid gestationis
- ORPHA:704 Pemphigus vulgaris
- ORPHA:11 Pentasomy X
- ORPHA:75392 Periodontal Ehlers-Danlos syndrome
- ORPHA:563 Peripartum cardiomyopathy
- OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
- ORPHA:1795 Peripheral dysostosis
- 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:608097 Periventricular heterotopia with microcephaly, autosomal recessive
- OMIM:267000 Perlman syndrome
- ORPHA:2849 Perlman syndrome
- ORPHA:226292 Permanent congenital hypothyroidism
- ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:616154 Peroxisomal fatty acyl-CoA reductase 1 disorder
- OMIM:614883 Peroxisome biogenesis disorder 11A (Zellweger)
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger)
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:266510 Peroxisome biogenesis disorder 3B
- OMIM:614866 Peroxisome biogenesis disorder 5A (Zellweger)
- OMIM:614871 Peroxisome biogenesis disorder 6B
- OMIM:614877 Peroxisome biogenesis disorder 8B
- OMIM:233400 Perrault syndrome 1
- OMIM:614129 Perrault syndrome 3
- OMIM:615300 Perrault syndrome 4
- OMIM:168605 Perry syndrome
- ORPHA:178509 Perry syndrome
- ORPHA:709 Peters plus syndrome
- OMIM:261540 Peters-Plus syndrome
- ORPHA:42642 PFAPA syndrome
- ORPHA:710 Pfeiffer syndrome
- ORPHA:2871 Pfeiffer-Palm-Teller syndrome
- ORPHA:443811 PGM3-CDG
- ORPHA:2874 Phakomatosis pigmentokeratotica
- ORPHA:2876 PHAVER syndrome
- OMIM:606232 Phelan-Mcdermid syndrome
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- ORPHA:2879 Phocomelia, Schinzel type
- OMIM:171480 Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia
- OMIM:601815 Phosphoglycerate dehydrogenase deficiency
- OMIM:619859 Phosphoribosylaminoimidazole carboxylase deficiency
- OMIM:300661 Phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form
- OMIM:614023 Phosphoserine phosphatase deficiency
- ORPHA:487825 Pierpont syndrome
- OMIM:602342 Pierpont 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:615830 Pigmented nodular adrenocortical disease, primary, 4
- ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome
- OMIM:262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:219090 Pituitary adenoma 4, ACTH-secreting, somatic
- OMIM:102200 Pituitary adenoma, growth hormone-secreting, 1
- OMIM:262650 Pituitary dwarfism IV
- OMIM:262710 Pituitary dwarfism with large sella turcica
- ORPHA:99725 Pituitary gigantism
- OMIM:613038 Pituitary hormone deficiency, combined, 1
- OMIM:262600 Pituitary hormone deficiency, combined, 2
- OMIM:262700 Pituitary hormone deficiency, combined, 4
- OMIM:613986 Pituitary hormone deficiency, combined, 6
- ORPHA:95496 Pituitary stalk interruption syndrome
- ORPHA:521426 PLAA-associated neurodevelopmental disorder
- ORPHA:439167 Placental insufficiency
- ORPHA:85166 Platyspondylic dysplasia, Torrance type
- OMIM:151210 Platyspondylic lethal skeletal dysplasia, Torrance type
- ORPHA:50251 Pleural mesothelioma
- ORPHA:79318 PMM2-CDG
- ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome
- ORPHA:723 Pneumocystosis
- ORPHA:2905 POEMS syndrome
- OMIM:604173 Poikiloderma with neutropenia
- OMIM:615704 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
- ORPHA:767 Polyarteritis nodosa
- OMIM:184700 Polycystic ovary syndrome 1
- ORPHA:729 Polycythemia vera
- OMIM:618123 Polydactyly, postaxial, type A8
- ORPHA:453533 Polyendocrine-polyneuropathy syndrome
- OMIM:616113 Polyendocrine-Polyneuropathy syndrome
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy
- ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- ORPHA:732 Polymyositis
- ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- ORPHA:228410 Polyvalvular heart disease syndrome
- OMIM:614688 Pontine tegmental cap dysplasia
- ORPHA:2254 Pontocerebellar hypoplasia type 1
- ORPHA:411493 Pontocerebellar hypoplasia type 10
- OMIM:615803 Pontocerebellar hypoplasia, type 10
- OMIM:617695 Pontocerebellar hypoplasia, type 11
- OMIM:618606 Pontocerebellar hypoplasia, type 13
- OMIM:619909 Pontocerebellar hypoplasia, type 17
- OMIM:614678 Pontocerebellar hypoplasia, type 1B
- OMIM:616081 Pontocerebellar hypoplasia, type 1C
- OMIM:618065 Pontocerebellar hypoplasia, type 1D
- OMIM:619304 Pontocerebellar hypoplasia, type 1F
- OMIM:615851 Pontocerebellar hypoplasia, type 2E
- OMIM:608027 Pontocerebellar hypoplasia, type 3
- OMIM:611523 Pontocerebellar hypoplasia, type 6
- OMIM:263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1
- OMIM:618428 Popov-Chang syndrome
- OMIM:612740 Porphyria, acute hepatic
- 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:93110 Posterior urethral valve
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
- OMIM:610883 Potocki-Lupski syndrome
- ORPHA:52022 Potocki-Shaffer syndrome
- ORPHA:97278 PPoma
- 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:176400 Precocious puberty, central
- ORPHA:275555 Preeclampsia
- OMIM:189800 Preeclampsia/eclampsia 1
- OMIM:601811 Premature aging syndrome, Okamoto type
- OMIM:601812 Premature aging syndrome, Penttinen type
- OMIM:300604 Premature ovarian failure 2B
- ORPHA:98805 Primary dystonia, DYT4 type
- ORPHA:3337 Primary Fanconi renotubular syndrome
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- ORPHA:416 Primary hyperoxaluria
- ORPHA:93598 Primary hyperoxaluria type 1
- ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- ORPHA:824 Primary myelofibrosis
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- ORPHA:2257 Primary pulmonary hypoplasia
- ORPHA:171 Primary sclerosing cholangitis
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- OMIM:259050 Primrose syndrome
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:2963 Progeroid syndrome, Petty type
- ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency
- OMIM:610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
- OMIM:615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6
- ORPHA:172 Progressive familial intrahepatic cholestasis
- ORPHA:1214 Progressive hemifacial atrophy
- ORPHA:158022 Progressive nodular histiocytosis
- ORPHA:2062 Progressive non-infectious anterior vertebral fusion
- ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood
- ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- OMIM:264120 Prolactin deficiency with obesity and enlarged testes
- ORPHA:2965 Prolactinoma
- OMIM:170100 Prolidase deficiency
- OMIM:225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
- ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome
- OMIM:606054 Propionic acidemia
- OMIM:600955 Proprotein convertase 1/3 deficiency
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- OMIM:618048 Proteasome-Associated autoinflammatory syndrome 2
- OMIM:617591 Proteasome-Associated autoinflammatory syndrome 3
- OMIM:619175 Proteasome-associated autoinflammatory syndrome 5
- OMIM:308990 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
- ORPHA:744 Proteus syndrome
- OMIM:176920 Proteus syndrome, somatic
- ORPHA:2969 Proteus-like syndrome
- ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia
- 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
- ORPHA:2970 Prune belly syndrome
- ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy
- OMIM:177170 Pseudoachondroplasia
- ORPHA:750 Pseudoachondroplasia
- ORPHA:221120 Pseudoaminopterin syndrome
- OMIM:264180 Pseudodiastrophic dysplasia
- ORPHA:85174 Pseudodiastrophic dysplasia
- ORPHA:757 Pseudohypoaldosteronism type 2
- OMIM:177735 Pseudohypoaldosteronism, type I, autosomal dominant
- OMIM:264350 Pseudohypoaldosteronism, type I, autosomal recessive
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- 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
- ORPHA:26790 Pseudomyxoma peritonei
- OMIM:264475 Pseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies
- ORPHA:2985 Pseudoprogeria syndrome
- ORPHA:79445 Pseudopseudohypoparathyroidism
- OMIM:612463 PSEUDOPSEUDOHYPOPARATHYROIDISM
- OMIM:177980 Pterygia, mental retardation, and distinctive craniofacial features
- ORPHA:2997 Ptosis-vocal cord paralysis syndrome
- ORPHA:60025 Pulmonary alveolar microlithiasis
- ORPHA:64741 Pulmonary blastoma
- ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:763 Pycnodysostosis
- OMIM:265800 Pycnodysostosis
- ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy
- OMIM:265850 PYGMY
- OMIM:179010 Pyloric stenosis, infantile hypertrophic 1
- ORPHA:764 Pyomyositis
- ORPHA:79096 Pyridoxal phosphate-responsive seizures
- OMIM:610090 Pyridoxamine 5-prime-phosphate oxidase deficiency
- ORPHA:3008 Pyruvate carboxylase deficiency
- ORPHA:765 Pyruvate dehydrogenase deficiency
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- OMIM:312170 Pyruvate dehydrogenase e1-alpha deficiency
- ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency
- ORPHA:2394 Pyruvate dehydrogenase E3 deficiency
- ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency
- OMIM:266200 Pyruvate kinase deficiency of red cells
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:769 Rabson-Mendenhall syndrome
- OMIM:179280 Radial-Renal syndrome
- ORPHA:3015 Radio-renal syndrome
- OMIM:619312 Radio-Tartaglia syndrome
- ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome
- OMIM:614202 Rafiq syndrome
- OMIM:259775 Raine syndrome
- OMIM:613658 Rajab interstitial lung disease with brain calcifications
- OMIM:619013 Rajab interstitial lung disease with brain calcifications 2
- OMIM:266270 Ramon syndrome
- ORPHA:3019 Ramon syndrome
- ORPHA:1051 Ramos-Arroyo syndrome
- OMIM:266280 Rapadilino syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- OMIM:129400 Rapp-Hodgkin syndrome
- ORPHA:31205 Rat-bite fever
- OMIM:619695 Rauch-Steindl syndrome
- ORPHA:99852 Ravine syndrome
- ORPHA:29207 Reactive arthritis
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- OMIM:179613 Recombinant chromosome 8 syndrome
- ORPHA:60032 Recurrent respiratory papillomatosis
- ORPHA:398063 Refractory celiac disease
- OMIM:266810 Renal and mullerian duct hypoplasia
- OMIM:137920 Renal cysts and diabetes syndrome
- ORPHA:93101 Renal hypoplasia
- ORPHA:97362 Renal hypoplasia, bilateral
- ORPHA:71273 Renal nutcracker syndrome
- 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:179830 Renal tubular acidosis, proximal
- OMIM:604278 Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation
- OMIM:560000 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia
- OMIM:309500 Renpenning syndrome
- ORPHA:3242 Renpenning syndrome
- ORPHA:494344 RERE-related neurodevelopmental syndrome
- ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome
- ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome
- ORPHA:1662 Restrictive dermopathy
- OMIM:275210 Restrictive dermopathy 1
- OMIM:619793 Restrictive dermopathy 2
- ORPHA:33355 Reticular dysgenesis
- OMIM:616188 Retinal dystrophy and obesity
- OMIM:616108 Retinal dystrophy, juvenile cataracts, and short stature syndrome
- ORPHA:791 Retinitis pigmentosa
- OMIM:613464 Retinitis pigmentosa 51
- OMIM:613861 Retinitis pigmentosa 59
- OMIM:616562 Retinitis pigmentosa 74
- 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
- ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- ORPHA:90050 Retinopathy of prematurity
- ORPHA:778 Rett syndrome
- OMIM:312750 Rett syndrome
- OMIM:268130 Revesz syndrome
- ORPHA:244310 RFT1-CDG
- ORPHA:71275 Rh deficiency syndrome
- ORPHA:69077 Rhabdoid tumor
- OMIM:180300 Rheumatoid arthritis
- ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
- ORPHA:177 Rhizomelic chondrodysplasia punctata
- OMIM:215100 Rhizomelic chondrodysplasia punctata, type 1
- OMIM:222765 Rhizomelic chondrodysplasia punctata, type 2
- OMIM:600121 Rhizomelic chondrodysplasia punctata, type 3
- OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5
- OMIM:619598 Rhizomelic dysplasia, Ain-Naz type
- OMIM:601438 Rhizomelic dysplasia, Patterson-Lowry type
- ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type
- OMIM:610319 Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- OMIM:618821 Rhizomelic limb shortening with dysmorphic features
- OMIM:618019 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
- OMIM:268250 Rhizomelic syndrome
- ORPHA:3098 Rhizomelic syndrome, Urbach type
- ORPHA:140976 RHYNS syndrome
- OMIM:602152 Rhyns syndrome
- ORPHA:97229 Riboflavin transporter deficiency
- ORPHA:3101 Richieri Costa-da Silva syndrome
- OMIM:268850 Richieri-Costa/guion-Almeida syndrome
- OMIM:277440 Rickets, vitamin D-resistant, type IIA
- OMIM:611943 Riddle syndrome
- ORPHA:420741 RIDDLE syndrome
- OMIM:208530 Right atrial isomerism (Ivemark)
- OMIM:602771 Rigid spine muscular dystrophy 1
- ORPHA:1438 Ring chromosome 10 syndrome
- ORPHA:1439 Ring chromosome 12 syndrome
- ORPHA:96176 Ring chromosome 13 syndrome
- OMIM:616606 Ring chromosome 14 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: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:544503 RNF13-related severe early-onset epileptic encephalopathy
- ORPHA:3103 Roberts syndrome
- OMIM:268300 Roberts syndrome
- OMIM:608670 Robin sequence, distinctive facial appearance, and brachydactyly
- 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:618529 Robinow syndrome, autosomal recessive 2
- OMIM:268315 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- OMIM:268320 Rodrigues blindness
- OMIM:616651 Roifman syndrome
- ORPHA:353298 Roifman 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:783 Rubinstein-Taybi syndrome
- OMIM:180849 Rubinstein-Taybi syndrome 1
- OMIM:613684 Rubinstein-Taybi syndrome 2
- 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:616200 Ruijs-Aalfs syndrome
- OMIM:312780 Russell-Silver syndrome, X-linked
- ORPHA:3121 Ruvalcaba syndrome
- OMIM:180870 Ruvalcaba syndrome
Code pathologie
Nom de la pathologie
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- ORPHA:3124 Saccharopinuria
- OMIM:268700 SACCHAROPINURIA
- OMIM:101400 Saethre-Chotzen syndrome
- ORPHA:794 Saethre-Chotzen syndrome
- ORPHA:300493 Sagliker syndrome
- OMIM:604369 Salla disease
- OMIM:609056 Salt and pepper developmental regression syndrome
- OMIM:618804 Sandestig-Stefanova syndrome
- ORPHA:796 Sandhoff disease
- ORPHA:309162 Sandhoff disease, juvenile form
- ORPHA:2323 Sanjad-Sakati syndrome
- OMIM:613005 Santos syndrome
- ORPHA:797 Sarcoidosis
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement
- ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant
- OMIM:600705 Satoyoshi syndrome
- ORPHA:3130 Satoyoshi syndrome
- OMIM:618150 Saul-Wilson syndrome
- OMIM:181180 Say syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:269000 Sc phocomelia syndrome
- OMIM:615547 Schaaf-Yang syndrome
- OMIM:164220 Schilbach-Rott syndrome
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:312840 Schimke X-linked mental retardation syndrome
- OMIM:163200 Schimmelpenning-Feuerstein-Mims syndrome
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:63862 Schisis association
- OMIM:181510 Schizophrenia 1
- OMIM:269250 Schneckenbecken dysplasia
- ORPHA:3144 Schneckenbecken dysplasia
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:255800 Schwartz-jampel syndrome, type 1
- OMIM:600802 Scid, autosomal recessive, T-Negative/b-Positive type
- ORPHA:3152 Sclerosteosis
- OMIM:269500 Sclerosteosis 1
- ORPHA:808 Seckel syndrome
- OMIM:210600 Seckel syndrome 1
- OMIM:617253 Seckel syndrome 10
- OMIM:606744 Seckel syndrome 2
- OMIM:613676 Seckel syndrome 4
- OMIM:613823 Seckel syndrome 5
- OMIM:614728 Seckel syndrome 6
- OMIM:614851 Seckel syndrome 7
- OMIM:615807 Seckel syndrome 8
- OMIM:616777 Seckel syndrome 9
- ORPHA:95427 Secondary short bowel syndrome
- ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- OMIM:616632 Seizures, cortical blindness, and microcephaly syndrome
- OMIM:612780 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- ORPHA:331235 Selective IgM deficiency
- ORPHA:79411 Self-improving dystrophic epidermolysis bullosa
- ORPHA:220386 Semilobar holoprosencephaly
- OMIM:212350 Sengers syndrome
- ORPHA:3156 Senior-Loken syndrome
- OMIM:616629 Senior-Loken syndrome 9
- OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- ORPHA:90051 Sepsis in premature infants
- ORPHA:3157 Septo-optic dysplasia spectrum
- OMIM:182230 Septooptic dysplasia
- ORPHA:139466 SERKAL syndrome
- OMIM:305700 Sertoli cell-only syndrome
- ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency
- ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency
- ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency
- OMIM:602450 Severe combined immunodeficiency with sensitivity to ionizing radiation
- OMIM:102700 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- OMIM:601457 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- OMIM:608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
- OMIM:300400 Severe combined immunodeficiency, X-linked
- ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts
- ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia
- ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus 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:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- ORPHA:2715 Severe oculo-renal-cerebellar syndrome
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- OMIM:617190 Shashi-Pena syndrome
- ORPHA:91355 Sheehan syndrome
- ORPHA:1147 Sheldon-Hall syndrome
- ORPHA:810 Shigellosis
- ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency
- ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome
- ORPHA:1505 Short rib-polydactyly syndrome
- OMIM:615503 Short rib-polydactyly syndrome, type VI
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- OMIM:165800 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
- OMIM:609654 Short stature and facioauriculothoracic malformations
- OMIM:618702 Short stature and microcephaly with genital anomalies
- ORPHA:314811 Short stature due to GHSR deficiency
- ORPHA:314802 Short stature due to partial GHR deficiency
- ORPHA:140941 Short stature due to primary acid-labile subunit deficiency
- OMIM:601350 Short stature syndrome, Brussels type
- OMIM:615789 Short stature with microcephaly and distinctive facies
- OMIM:616255 Short stature with nonspecific skeletal abnormalities
- OMIM:618363 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
- OMIM:602471 Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities
- OMIM:617157 Short stature, brachydactyly, intellectual developmental disability, and seizures
- ORPHA:2867 Short stature, Brussels type
- OMIM:619489 Short stature, Dauber-Argente type
- OMIM:617044 Short stature, developmental delay, and congenital heart defects
- OMIM:619184 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:617763 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:619234 Short stature, oligodontia, dysmorphic facies, and motor delay
- OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
- OMIM:614800 Short stature, optic nerve atrophy, and pelger-huet anomaly
- OMIM:617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
- ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome
- ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome
- ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency
- ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome
- ORPHA:2865 Short stature-webbed neck-heart disease syndrome
- ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome
- OMIM:269880 Short syndrome
- ORPHA:3163 SHORT syndrome
- ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability 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:617088 Short-rib thoracic dysplasia 15 with polydactyly
- OMIM:617102 Short-Rib thoracic dysplasia 16 with or without polydactyly
- OMIM:617405 Short-Rib thoracic dysplasia 17 with or without 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:614091 Short-Rib thoracic dysplasia 7 with or without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- ORPHA:314795 SHOX-related short stature
- OMIM:182210 Shprintzen omphalocele syndrome
- ORPHA:2462 Shprintzen-Goldberg syndrome
- ORPHA:811 Shwachman-Diamond syndrome
- OMIM:260400 Shwachman-Diamond syndrome 1
- OMIM:617941 Shwachman-Diamond syndrome 2
- ORPHA:812 Sialidosis type 1
- ORPHA:87876 Sialidosis type 2
- OMIM:269921 Sialuria
- OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- OMIM:617159 Sifrim-Hitz-Weiss syndrome
- ORPHA:3168 Sillence syndrome
- ORPHA:813 Silver-Russell syndrome
- OMIM:180860 Silver-Russell syndrome 1
- OMIM:618905 Silver-Russell syndrome 2
- OMIM:616489 Silver-Russell syndrome 3
- OMIM:618907 Silver-Russell syndrome 4
- OMIM:618908 Silver-Russell syndrome 5
- ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication
- 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
- OMIM:619557 SIMHA 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
- OMIM:182250 Singleton-Merten syndrome 1
- OMIM:616298 Singleton-Merten syndrome 2
- ORPHA:488437 SIX2-related frontonasal dysplasia
- OMIM:270200 Sjogren-Larsson syndrome
- ORPHA:816 Sjögren-Larsson syndrome
- OMIM:612447 Skeletal defects, genital hypoplasia, and mental retardation
- OMIM:602613 Skeletal dysplasia and progressive central nervous system degeneration, lethal
- OMIM:182255 Skeletal dysplasia with delayed epiphyseal and carpal bone ossification
- OMIM:618870 Skeletal dysplasia, mild, with joint laxity and advanced bone age
- ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- OMIM:616734 Skin creases, congenital symmetric circumferential, 2
- OMIM:607655 Skin fragility-woolly hair syndrome
- ORPHA:356961 SLC35A2-CDG
- ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:468699 SLC39A8-CDG
- 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
- OMIM:607326 Smith-Mccort dysplasia 1
- OMIM:615222 Smith-Mccort dysplasia 2
- ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma
- OMIM:147250 Solitary median maxillary central incisor
- ORPHA:209964 Solitary rectal ulcer syndrome
- ORPHA:314769 Somatomammotropinoma
- ORPHA:97283 Somatostatinoma
- OMIM:270460 Sonoda syndrome
- ORPHA:821 Sotos syndrome
- OMIM:117550 Sotos syndrome
- OMIM:618438 Spastic ataxia 9, autosomal recessive
- OMIM:312910 Spastic paraparesis and deafness
- ORPHA:2815 Spastic paraparesis-deafness syndrome
- OMIM:604360 Spastic paraplegia 11, autosomal recessive
- OMIM:275900 Spastic paraplegia 20, autosomal recessive
- OMIM:614066 Spastic paraplegia 47, autosomal recessive
- OMIM:615031 Spastic paraplegia 49, autosomal recessive
- OMIM:613744 Spastic paraplegia 51, autosomal recessive
- OMIM:614067 Spastic paraplegia 52, autosomal recessive
- OMIM:615033 Spastic paraplegia 54, autosomal recessive
- OMIM:615686 Spastic paraplegia 63, autosomal recessive
- OMIM:615683 Spastic paraplegia 64, autosomal recessive
- OMIM:601162 Spastic paraplegia 9A, autosomal dominant
- OMIM:616586 Spastic paraplegia 9B, autosomal recessive
- OMIM:616756 Spastic paraplegia and psychomotor retardation with or without seizures
- OMIM:617296 Spastic paraplegia, intellectual disability, nystagmus, and obesity
- ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome
- OMIM:617475 Specific granule deficiency 2
- OMIM:601344 Spinal dysplasia, Anhalt type
- OMIM:604320 Spinal muscular atrophy, distal, autosomal recessive, 1
- OMIM:619042 Spinal muscular atrophy, infantile, James type
- OMIM:617931 Spinocerebellar ataxia 47
- OMIM:618093 Spinocerebellar ataxia 48
- ORPHA:98768 Spinocerebellar ataxia type 13
- OMIM:614322 Spinocerebellar ataxia, autosomal recessive 12
- OMIM:614831 Spinocerebellar ataxia, autosomal recessive 13
- OMIM:213200 Spinocerebellar ataxia, autosomal recessive 2
- OMIM:618800 Spinocerebellar ataxia, autosomal recessive 28
- OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31
- OMIM:608029 Spinocerebellar ataxia, autosomal recessive 6
- ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome
- ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome
- ORPHA:573278 Split cord malformation
- OMIM:220600 Split-Hand/foot malformation 1 with sensorineural hearing loss
- ORPHA:93357 SPONASTRIME dysplasia
- OMIM:613330 Spondylo-megaepiphyseal-metaphyseal dysplasia
- ORPHA:85194 Spondylo-ocular syndrome
- OMIM:272460 Spondylocarpotarsal synostosis syndrome
- OMIM:608681 Spondylocostal dysostosis 2, autosomal recessive
- OMIM:609813 Spondylocostal dysostosis 3, autosomal recessive
- OMIM:613686 Spondylocostal dysostosis 4, autosomal recessive
- OMIM:122600 Spondylocostal dysostosis 5
- OMIM:277300 Spondylocostal dysostosis, autosomal recessive 1
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- OMIM:601668 Spondyloepimetaphyseal dysplasia with abnormal dentition
- OMIM:183849 Spondyloepimetaphyseal dysplasia with hypotrichosis
- ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity
- OMIM:271640 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
- OMIM:603546 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
- OMIM:618395 Spondyloepimetaphyseal dysplasia with joint laxity, type 3
- ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations
- ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type
- OMIM:612813 Spondyloepimetaphyseal dysplasia, Aggrecan type
- OMIM:608728 Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type
- OMIM:617974 Spondyloepimetaphyseal dysplasia, DI Rocco type
- OMIM:616723 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
- ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type
- ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type
- OMIM:271650 Spondyloepimetaphyseal dysplasia, Irapa type
- OMIM:618728 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type
- ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type
- OMIM:602111 Spondyloepimetaphyseal dysplasia, Missouri type
- OMIM:602557 Spondyloepimetaphyseal dysplasia, Shohat type
- ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type
- OMIM:271510 Spondyloepimetaphyseal dysplasia, Sponastrime type
- OMIM:184250 Spondyloepimetaphyseal dysplasia, Strudwick type
- OMIM:300106 Spondyloepimetaphyseal dysplasia, X-linked
- OMIM:300232 Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration
- ORPHA:94068 Spondyloepiphyseal dysplasia congenita
- OMIM:183900 Spondyloepiphyseal dysplasia congenita
- ORPHA:93284 Spondyloepiphyseal dysplasia tarda
- OMIM:184100 Spondyloepiphyseal dysplasia tarda, autosomal dominant
- OMIM:271600 Spondyloepiphyseal dysplasia tarda, autosomal recessive
- OMIM:609223 Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertype
- ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type
- OMIM:313400 Spondyloepiphyseal dysplasia tarda, X-linked
- OMIM:600561 Spondyloepiphyseal dysplasia with atlantoaxial instability
- OMIM:143095 Spondyloepiphyseal dysplasia with congenital joint dislocations
- ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type
- OMIM:608361 Spondyloepiphyseal dysplasia, Kimberley type
- OMIM:618392 Spondyloepiphyseal dysplasia, Kondo-Fu type
- OMIM:618618 Spondyloepiphyseal dysplasia, Nishimura type
- OMIM:619260 Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
- OMIM:616583 Spondyloepiphyseal dysplasia, Stanescu type
- OMIM:611717 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
- ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- OMIM:609616 Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness
- OMIM:271665 Spondylometaepiphyseal dysplasia, short Limb-Hand type
- OMIM:608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
- ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type
- ORPHA:168555 Spondylometaphyseal dysplasia, A4 type
- OMIM:184253 Spondylometaphyseal dysplasia, Algerian type
- OMIM:602271 Spondylometaphyseal dysplasia, axial
- OMIM:184255 Spondylometaphyseal dysplasia, corner Fracture type
- OMIM:611702 Spondylometaphyseal dysplasia, east African type
- OMIM:184252 Spondylometaphyseal dysplasia, Kozlowski type
- ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type
- OMIM:613320 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
- OMIM:619638 Spondylometaphyseal dysplasia, Pagnamenta type
- ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type
- OMIM:250220 Spondylometaphyseal dysplasia, Sedaghatian type
- ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type
- OMIM:609052 Spondylometaphyseal dysplasia, type A4
- OMIM:313420 Spondylometaphyseal dysplasia, X-linked
- ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- OMIM:605822 Spondyloocular syndrome
- OMIM:271700 Spondyloperipheral dysplasia
- ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome
- 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:615155 Steel syndrome
- ORPHA:36426 Stevens-Johnson syndrome
- ORPHA:828 Stickler syndrome
- OMIM:108300 Stickler syndrome, type I
- OMIM:604841 Stickler syndrome, type II
- OMIM:614134 Stickler syndrome, type IV
- OMIM:614284 Stickler syndrome, type V
- ORPHA:2833 Stiff skin syndrome
- OMIM:184900 Stiff skin syndrome
- ORPHA:3199 Stimmler syndrome
- OMIM:615934 STING-associated vasculopathy, infantile-onset
- OMIM:300434 Stocco dos santos X-linked mental retardation syndrome
- OMIM:608885 Stomatin-Deficient cryohydrocytosis with neurologic defects
- OMIM:185070 Stormorken syndrome
- ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome
- OMIM:271930 Striatonigral degeneration, infantile
- ORPHA:370921 STT3A-CDG
- ORPHA:370924 STT3B-CDG
- OMIM:601559 Stuve-Wiedemann syndrome
- OMIM:619751 Stuve-Wiedemann syndrome 2
- ORPHA:3206 Stüve-Wiedemann syndrome
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma
- 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:272350 Summitt syndrome
- ORPHA:3210 Summitt syndrome
- OMIM:265120 Surfactant metabolism dysfunction, pulmonary, 1
- OMIM:610913 Surfactant metabolism dysfunction, pulmonary, 2
- OMIM:610921 Surfactant metabolism dysfunction, pulmonary, 3
- ORPHA:1314 Symmetrical thalamic calcifications
- ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome
- OMIM:272450 Syndesmodysplasic dwarfism
- ORPHA:84064 Syndromic diarrhea
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:281090 Syndromic recessive X-linked ichthyosis
- ORPHA:85274 Syndromic X-linked intellectual disability 7
- OMIM:186575 Synovial chondromatosis, familial, with dwarfism
- ORPHA:188 Systemic capillary leak syndrome
- ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm
Code pathologie
Nom de la pathologie
- ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
- ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency
- ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency
- OMIM:615387 T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
- OMIM:276200 T-SUBSTANCE ANOMALY
- ORPHA:3287 Takayasu arteritis
- ORPHA:66529 Tako-Tsubo cardiomyopathy
- ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome
- OMIM:311900 Tarp syndrome
- ORPHA:2886 TARP syndrome
- ORPHA:1412 Tarsal-carpal coalition syndrome
- OMIM:186570 Tarsal-Carpal coalition syndrome
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- OMIM:615879 Tatton-Brown-Rahman syndrome
- OMIM:145420 Teebi hypertelorism syndrome 1
- OMIM:272950 Teebi-Shaltout syndrome
- ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder
- ORPHA:254516 Temple syndrome
- OMIM:616222 Temple syndrome
- ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
- ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation
- ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion
- ORPHA:420561 Temple-Baraitser syndrome
- ORPHA:363417 Temtamy preaxial brachydactyly syndrome
- OMIM:616260 Tenorio syndrome
- ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome
- OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1
- OMIM:619759 Tessadori-van Haaften neurodevelopmental syndrome 2
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- ORPHA:3303 Tetralogy of Fallot
- ORPHA:3305 Tetraploidy
- ORPHA:884 Tetrasomy 12p
- ORPHA:3309 Tetrasomy 5p
- ORPHA:3310 Tetrasomy 9p
- OMIM:608028 Thai symphalangism syndrome
- ORPHA:1780 Thakker-Donnai syndrome
- ORPHA:3312 Thalidomide embryopathy
- ORPHA:2655 Thanatophoric dysplasia
- ORPHA:1860 Thanatophoric dysplasia type 1
- ORPHA:93274 Thanatophoric dysplasia type 2
- OMIM:187600 Thanatophoric dysplasia, type I
- OMIM:187601 Thanatophoric dysplasia, type II
- OMIM:617107 Thauvin-Robinet-Faivre syndrome
- ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome
- OMIM:249270 Thiamine-Responsive megaloblastic anemia syndrome
- ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome
- ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome
- ORPHA:1759 Thoraco-abdominal enteric duplication
- OMIM:187760 Thoracolaryngopelvic dysplasia
- OMIM:273740 Thoracomelic dysplasia
- ORPHA:1803 Thoracomelic dysplasia
- OMIM:187770 Thoracopelvic dysostosis
- OMIM:273770 THREONINEMIA
- OMIM:274190 Thumb agenesis, short stature, and immunodeficiency
- OMIM:188150 Thumb deformity and alopecia
- ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome
- ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome
- ORPHA:83471 Thymic aplasia
- ORPHA:99868 Thymic carcinoma
- ORPHA:97289 Thymic neuroendocrine tumor
- OMIM:274265 Thymic-Renal-Anal-Lung dysplasia
- ORPHA:99867 Thymoma
- ORPHA:95712 Thyroid ectopia
- ORPHA:95719 Thyroid hemiagenesis
- OMIM:609698 Thyroid hormone metabolism, abnormal
- OMIM:274300 Thyroid hormone resistance, generalized, autosomal recessive
- OMIM:274400 Thyroid hormonogenesis, genetic defect in, 1
- OMIM:274800 Thyroid hormonogenesis, genetic defect in, 4
- OMIM:274900 Thyroid hormonogenesis, genetic defect in, 5
- ORPHA:95720 Thyroid hypoplasia
- ORPHA:79102 Thyrotoxic periodic paralysis
- OMIM:188580 Thyrotoxic periodic paralysis, susceptibility to, 1
- OMIM:613239 Thyrotoxic periodic paralysis, susceptibility to, 2
- OMIM:275120 Thyrotropin-Releasing hormone deficiency
- ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
- 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
- ORPHA:857 Townes-Brocks syndrome
- OMIM:107480 Townes-Brocks syndrome 1
- ORPHA:537 Toxic epidermal necrolysis
- OMIM:606003 Transaldolase deficiency
- OMIM:275350 Transcobalamin II deficiency
- ORPHA:99886 Transient neonatal diabetes mellitus
- ORPHA:488618 Transketolase deficiency
- ORPHA:861 Treacher-Collins syndrome
- ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome
- OMIM:222470 Trichohepatoenteric syndrome 1
- OMIM:614602 Trichohepatoenteric syndrome 2
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3
- ORPHA:502 Trichorhinophalangeal syndrome type 2
- OMIM:190350 Trichorhinophalangeal syndrome, type I
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- OMIM:190351 Trichorhinophalangeal syndrome, type III
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:616390 Trichothiodystrophy 2, photosensitive
- OMIM:616395 Trichothiodystrophy 3, photosensitive
- OMIM:234050 Trichothiodystrophy 4, nonphotosensitive
- OMIM:300953 Trichothiodystrophy 5, nonphotosensitive
- OMIM:616943 Trichothiodystrophy 6, nonphotosensitive
- OMIM:190420 Triglyceride storage disease, type I
- OMIM:190430 Triglyceride storage disease, type II
- OMIM:314320 Trigonocephaly with short stature and developmental delay
- ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome
- ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8
- OMIM:618805 Triokinase and FMN cyclase deficiency syndrome
- OMIM:615512 Triosephosphate isomerase deficiency
- OMIM:190650 Triphalangeal thumbs and dislocation of patella
- ORPHA:869 Triple A syndrome
- ORPHA:3376 Triploidy
- ORPHA:3377 Trismus-pseudocamptodactyly syndrome
- 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:1738 Trisomy 4p
- ORPHA:1742 Trisomy 5p
- ORPHA:3375 Trisomy X
- ORPHA:75565 Tropical endomyocardial fibrosis
- ORPHA:103918 Tropical pancreatitis
- ORPHA:3384 Truncus arteriosus
- OMIM:276100 Tryptophanuria with dwarfism
- ORPHA:91347 TSH-secreting pituitary adenoma
- ORPHA:3389 Tuberculosis
- OMIM:617056 Tubulointerstitial kidney disease, autosomal dominant, 5
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:618371 Turnpenny-Fry syndrome
- OMIM:276600 Tyrosine transaminase deficiency
- OMIM:276700 Tyrosinemia, type I
- OMIM:615102 Tyshchenko syndrome
Code pathologie
Nom de la pathologie
- ORPHA:3404 Ulbright-Hodes syndrome
- OMIM:254090 Ullrich congenital muscular dystrophy 1
- OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency
- ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome
- ORPHA:1837 Ulna metaphyseal dysplasia syndrome
- ORPHA:93320 Ulnar hemimelia
- ORPHA:3138 Ulnar-mammary syndrome
- OMIM:181450 Ulnar-Mammary syndrome
- ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome
- ORPHA:2023 Undifferentiated pleomorphic sarcoma
- ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome
- ORPHA:3409 Urban-Rogers-Meyer syndrome
- OMIM:276880 Urocanase deficiency
Code pathologie
Nom de la pathologie
- OMIM:314390 VACTERL association, X-linked
- ORPHA:3412 VACTERL with hydrocephalus
- ORPHA:887 VACTERL/VATER association
- OMIM:277100 VALINEMIA
- OMIM:301030 Van Esch-O'Driscoll syndrome
- OMIM:601390 Van Maldergem syndrome 1
- OMIM:615546 Van maldergem syndrome 2
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:192350 Vater associationvacterl association, included
- ORPHA:3424 Velo-facial-skeletal syndrome
- OMIM:192430 Velocardiofacial syndrome
- OMIM:600736 Velofacioskeletal syndrome
- ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
- OMIM:615583 Verheij syndrome
- OMIM:618223 Vertebral anomalies and variable endocrine and T-cell dysfunction
- OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1
- OMIM:617661 Vertebral, cardiac, renal, and limb defects syndrome 2
- OMIM:619227 Vertebral, cardiac, tracheoesophageal, renal, and limb defects
- OMIM:617982 Ververi-Brady syndrome
- ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency
- OMIM:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- ORPHA:97282 VIPoma
- ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- OMIM:619472 VISS syndrome
- OMIM:619033 Vissers-Bodmer syndrome
- ORPHA:28 Vitamin B12-responsive methylmalonic acidemia
- ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-
- ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0
- OMIM:264700 Vitamin D hydroxylation-deficient rickets, type 1A
- OMIM:600081 Vitamin D hydroxylation-deficient rickets, type 1B
- OMIM:619073 Vitamin d-dependent rickets, type 3
- ORPHA:1914 Vitamin K antagonist embryofetopathy
- OMIM:619248 Vitreoretinopathy with phalangeal epiphyseal dysplasia
- ORPHA:3437 Vogt-Koyanagi-Harada disease
- ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy
Code pathologie
Nom de la pathologie
- ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- ORPHA:893 WAGR syndrome
- OMIM:612469 WAGRO 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:572798 WARS2-related combined oxidative phosphorylation defect
- OMIM:613398 Warsaw breakage syndrome
- OMIM:193520 Watson syndrome
- ORPHA:3447 Weaver syndrome
- OMIM:277590 Weaver syndrome
- ORPHA:3448 Weaver-Williams syndrome
- ORPHA:3449 Weill-Marchesani syndrome
- OMIM:277600 Weill-Marchesani syndrome 1
- OMIM:608328 Weill-Marchesani syndrome 2, dominant
- OMIM:614819 Weill-Marchesani syndrome 3
- OMIM:613195 Weill-Marchesani syndrome 4
- ORPHA:3344 Weismann-Netter syndrome
- OMIM:112350 Weismann-Netter syndrome
- ORPHA:902 Werner syndrome
- OMIM:277700 Werner syndrome
- OMIM:193530 Weyers acrofacial dysostosis
- ORPHA:3452 Whipple disease
- ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
- OMIM:619426 White-Kernohan syndrome
- OMIM:616364 White-Sutton syndrome
- ORPHA:468678 White-Sutton syndrome
- OMIM:314580 Wieacker-Wolff syndrome
- OMIM:301041 Wieacker-Wolff syndrome, female-restricted
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:319182 Wiedemann-Steiner syndrome
- OMIM:605130 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:194072 Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome
- ORPHA:905 Wilson disease
- OMIM:309585 Wilson-Turner syndrome
- ORPHA:3459 Wilson-Turner syndrome
- 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
- ORPHA:411590 Wolfram-like syndrome
- ORPHA:75233 Wolman disease
- ORPHA:3464 Woodhouse-Sakati syndrome
- ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
- OMIM:278250 Wrinkly skin syndrome
- ORPHA:2834 Wrinkly skin syndrome
Code pathologie
Nom de la pathologie
- ORPHA:96201 X small rings
- ORPHA:300373 X-linked acrogigantism
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:52503 X-linked creatine transporter deficiency
- ORPHA:35173 X-linked dominant chondrodysplasia punctata
- ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type
- ORPHA:75497 X-linked Ehlers-Danlos syndrome
- ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:89936 X-linked hypophosphatemia
- ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations
- ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency
- 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:163971 X-linked intellectual disability, Cilliers type
- ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type
- ORPHA:93952 X-linked intellectual disability, Hedera type
- ORPHA:163937 X-linked intellectual disability, Najm type
- ORPHA:85322 X-linked intellectual disability, Pai type
- ORPHA:93945 X-linked intellectual disability, Porteous 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:85324 X-linked intellectual disability, Shrimpton type
- ORPHA:3063 X-linked intellectual disability, Snyder type
- ORPHA:85325 X-linked intellectual disability, Stevenson type
- ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type
- ORPHA:85326 X-linked intellectual disability, Stoll 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:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
- ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
- ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome
- ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome
- ORPHA:1131 X-linked mandibulofacial dysostosis
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia
- ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome
- ORPHA:910 Xeroderma pigmentosum
- OMIM:610651 Xeroderma pigmentosum, complementation group B
- OMIM:278760 Xeroderma pigmentosum, complementation group F
- OMIM:278780 Xeroderma pigmentosum, complementation group G
- OMIM:278750 Xeroderma pigmentosum, Variant type
- ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex
- OMIM:610965 XFE progeroid syndrome
- OMIM:615829 Xia-Gibbs 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
- OMIM:303110 Xq21 deletion syndrome
- ORPHA:1435 Xq21 microdeletion syndrome
- OMIM:300979 Xq25 duplication syndrome
- ORPHA:521258 Xq25 microduplication syndrome
- ORPHA:261483 Xq27.3q28 duplication syndrome
- ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome
- ORPHA:370930 XYLT1-CDG
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- OMIM:619648 Zaki syndrome
- ORPHA:912 Zellweger syndrome
- ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies
- ORPHA:448237 Zika virus disease
- ORPHA:3473 Zimmermann-Laband syndrome
- OMIM:135500 Zimmermann-Laband syndrome 1
- OMIM:616455 Zimmermann-Laband syndrome 2
- ORPHA:913 Zollinger-Ellison syndrome
- OMIM:617140 Zttk syndrome
- OMIM:280000 Zunich neuroectodermal syndrome
Gènes associés :
- #
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
Nom du gène
- AAAS
- AARS1
- AARS2
- AASS
- ABAT
- ABCA12
- ABCA3
- ABCA4
- ABCB11
- ABCB4
- ABCB6
- ABCB7
- ABCC8
- ABCC9
- ABCD1
- ABCD4
- ABHD5
- ABL1
- ACACA
- ACAD9
- ACADM
- ACADS
- ACADVL
- ACAN
- ACAT1
- ACD
- ACER3
- ACO2
- ACOX1
- ACP5
- ACSF3
- ACTA1
- ACTA2
- ACTB
- ACTG1
- ACTG2
- ACTL6B
- ACVR1
- ADA
- ADA2
- ADAM17
- ADAMTS10
- ADAMTS17
- ADAMTS2
- ADAMTS3
- ADAMTSL2
- ADAR
- ADARB1
- ADAT3
- ADCY3
- ADCY5
- ADGRG1
- ADGRG6
- ADGRL1
- ADH5
- ADK
- ADNP
- ADSL
- AFF3
- AFF4
- AGA
- AGBL5
- AGGF1
- AGK
- AGL
- AGPAT2
- AGPS
- AGTPBP1
- AGXT
- AHCY
- AHDC1
- AHI1
- AHR
- AHSG
- AIFM1
- AIMP1
- AIMP2
- AIP
- AK2
- AKR1D1
- AKT1
- AKT2
- ALAD
- ALB
- ALDH18A1
- ALDH3A2
- ALDOA
- ALDOB
- ALG1
- ALG11
- ALG12
- ALG13
- ALG2
- ALG3
- ALG6
- ALG8
- ALG9
- ALMS1
- ALOX12B
- ALOXE3
- ALPL
- ALS2
- ALX4
- AMACR
- AMER1
- AMMECR1
- AMN
- AMPD2
- ANAPC1
- ANK1
- ANK3
- ANKH
- ANKLE2
- ANKRD11
- ANKRD17
- ANKRD55
- ANO1
- ANOS1
- ANTXR1
- ANTXR2
- AP1B1
- AP1S1
- AP1S2
- AP3B2
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- APC2
- APOE
- APPL1
- AQP2
- ARCN1
- ARFGEF2
- ARG1
- ARHGAP31
- ARHGEF18
- ARID1A
- ARID1B
- ARID2
- ARL13B
- ARL2BP
- ARL3
- ARL6
- ARL6IP6
- ARMC5
- ARNT2
- ARPC1B
- ARPC4
- ARSB
- ARSK
- ARSL
- ARV1
- ARVCF
- ASAH1
- ASCL1
- ASH1L
- ASL
- ASNS
- ASPM
- ASPRV1
- ASS1
- ASXL1
- ASXL2
- ASXL3
- ATAD3A
- ATG7
- ATL1
- ATM
- ATP10A
- ATP11A
- ATP1A2
- ATP1A3
- ATP5F1A
- ATP5F1D
- ATP6AP1
- ATP6AP2
- ATP6V0A2
- ATP6V0A4
- ATP6V1A
- ATP6V1B2
- ATP6V1E1
- ATP7A
- ATP7B
- ATP8A2
- ATP8B1
- ATPAF2
- ATR
- ATRIP
- ATRX
- AUH
- AUTS2
- AVP
- AVPR2
Nom du gène
- B3GALT6
- B3GAT3
- B3GLCT
- B4GALT1
- B4GALT7
- BANF1
- BAP1
- BAZ1B
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BCAP31
- BCAS3
- BCKDHA
- BCKDHB
- BCL10
- BCL2
- BCL6
- BCL7B
- BCOR
- BCR
- BCS1L
- BDNF
- BEST1
- BGN
- BICRA
- BIN1
- BIRC3
- BLK
- BLM
- BLNK
- BMP1
- BMP15
- BMP2
- BMP4
- BMP6
- BMPER
- BMPR1A
- BMPR1B
- BNC1
- BNC2
- BPNT2
- BPTF
- BRAF
- BRCA1
- BRCA2
- BRCC3
- BRD4
- BRF1
- BRIP1
- BRPF1
- BSCL2
- BSND
- BTK
- BTNL2
- BUB1
- BUB1B
- BUB3
- BUD23
Nom du gène
- C18orf32
- C1R
- C1S
- C2orf69
- C4A
- CA12
- CA2
- CA4
- CA8
- CACNA1B
- CACNA1C
- CACNA1S
- CACNA2D1
- CALR
- CAMK2A
- CAMK2B
- CAMK2G
- CAMKMT
- CAMTA1
- CANT1
- CAPN15
- CARMIL2
- CARS1
- CARS2
- CASK
- CASP8
- CASR
- CASZ1
- CAV1
- CAVIN1
- CBL
- CBS
- CCBE1
- CCDC134
- CCDC141
- CCDC22
- CCDC28B
- CCDC32
- CCDC39
- CCDC47
- CCDC8
- CCN6
- CCND1
- CCNQ
- CCR1
- CD19
- CD244
- CD247
- CD3D
- CD3E
- CD3G
- CD40LG
- CD46
- CD55
- CD79A
- CD79B
- CD81
- CD96
- CDAN1
- CDC42
- CDC42BPB
- CDC45
- CDC6
- CDC73
- CDCA7
- CDH23
- CDH3
- CDHR1
- CDIN1
- CDK10
- CDK13
- CDK19
- CDK5RAP2
- CDK6
- CDKL5
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2A
- CDKN2B
- CDKN2C
- CDON
- CDSN
- CDT1
- CEACAM3
- CEACAM6
- CEL
- CELA2A
- CELF2
- CENPE
- CENPJ
- CENPT
- CEP120
- CEP135
- CEP152
- CEP164
- CEP19
- CEP290
- CEP57
- CEP63
- CERKL
- CERS3
- CFAP410
- CFAP418
- CFAP52
- CFAP53
- CFC1
- CFH
- CFI
- CFTR
- CHCHD10
- CHD1
- CHD4
- CHD7
- CHD8
- CHEK2
- CHKA
- CHP1
- CHRM3
- CHRNA1
- CHRNA3
- CHRNA7
- CHRND
- CHRNG
- CHST11
- CHST14
- CHST3
- CHSY1
- CIC
- CIITA
- CIROP
- CISD2
- CIT
- CITED2
- CKAP2L
- CLCA4
- CLCN3
- CLCN5
- CLCN7
- CLCNKA
- CLCNKB
- CLDN16
- CLIP2
- CLMP
- CLP1
- CLPB
- CLPP
- CLRN1
- CLTC
- CLTCL1
- CLTRN
- CNGA1
- CNGB1
- CNKSR2
- CNOT1
- CNTN1
- CNTNAP1
- CNTNAP2
- COA3
- COA8
- COG1
- COG4
- COG5
- COG6
- COG7
- COG8
- COL10A1
- COL11A1
- COL11A2
- COL12A1
- COL17A1
- COL1A1
- COL1A2
- COL27A1
- COL2A1
- COL3A1
- COL4A2
- COL4A5
- COL4A6
- COL5A1
- COL6A1
- COL6A2
- COL6A3
- COL7A1
- COL9A1
- COL9A2
- COL9A3
- COLEC10
- COLEC11
- COMP
- COMT
- COPB1
- COPB2
- COQ2
- COQ4
- COQ7
- COQ9
- CORIN
- COX10
- COX15
- COX16
- COX20
- COX4I1
- COX4I2
- COX5A
- COX6B1
- COX7B
- COX8A
- CPE
- CPLANE1
- CPLX1
- CPS1
- CPSF3
- CR2
- CRB1
- CREB3L1
- CREBBP
- CRIPT
- CRKL
- CRLF1
- CRTAP
- CRX
- CSF2RB
- CSGALNACT1
- CSNK2A1
- CSPP1
- CTBP1
- CTC1
- CTCF
- CTDP1
- CTLA4
- CTNNB1
- CTNNBL1
- CTNND2
- CTNS
- CTRC
- CTSA
- CTSH
- CTSK
- CTU2
- CUBN
- CUL3
- CUL4B
- CUL7
- CUX1
- CWC27
- CYB5A
- CYB5R3
- CYBC1
- CYC1
- CYFIP2
- CYP11A1
- CYP11B1
- CYP11B2
- CYP17A1
- CYP19A1
- CYP24A1
- CYP27B1
- CYP2R1
- CYP3A4
- CYP4F22
- CYP7A1
- CYP7B1
Nom du gène
- DACT1
- DALRD3
- DAXX
- DBR1
- DBT
- DCAF17
- DCC
- DCHS1
- DCLRE1B
- DCLRE1C
- DCTN1
- DCTN4
- DCX
- DDB1
- DDB2
- DDHD2
- DDOST
- DDR2
- DDRGK1
- DDX11
- DDX3X
- DDX6
- DEAF1
- DEF6
- DEGS1
- DGAT1
- DGCR2
- DGCR6
- DGCR8
- DGUOK
- DHCR24
- DHCR7
- DHDDS
- DHODH
- DHPS
- DHX37
- DHX38
- DIAPH1
- DICER1
- DIS3L2
- DISP1
- DKC1
- DLD
- DLG4
- DLK1
- DLL1
- DLL3
- DLL4
- DLST
- DLX5
- DMP1
- DMRT3
- DMXL2
- DNA2
- DNAH9
- DNAJC13
- DNAJC19
- DNAJC21
- DNAJC3
- DNAJC30
- DNASE2
- DNM1
- DNM1L
- DNM2
- DNMT3A
- DNMT3B
- DOCK2
- DOCK3
- DOCK6
- DOCK8
- DOK7
- DOLK
- DONSON
- DPAGT1
- DPF2
- DPH1
- DPH2
- DPH5
- DPM1
- DPM2
- DPP6
- DPYD
- DPYS
- DPYSL5
- DSE
- DSG1
- DSP
- DST
- DSTYK
- DTYMK
- DUOXA2
- DUSP6
- DVL1
- DVL3
- DYM
- DYNC1I2
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYNLT2B
- DYRK1A
- DYRK1B
- DZIP1L
Nom du gène
- EARS2
- EBF3
- EBP
- ECE1
- ECEL1
- ECHS1
- EDN3
- EDNRA
- EDNRB
- EED
- EEF1A2
- EFEMP2
- EFL1
- EFNB1
- EFTUD2
- EGFR
- EHHADH
- EHMT1
- EIF2AK3
- EIF2S3
- EIF3F
- EIF4G1
- EIF4H
- EIF5A
- ELAC2
- ELANE
- ELF4
- ELMO2
- ELN
- ELOVL4
- ELP1
- ELP2
- EMD
- EMG1
- EN1
- ENG
- ENPP1
- ENTPD1
- EOGT
- EP300
- EPAS1
- EPB41
- EPB41L1
- EPB42
- EPCAM
- EPG5
- EPRS1
- ERAP1
- ERBB2
- ERBB3
- ERCC1
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC8
- ERF
- ERMARD
- ESCO2
- ESR1
- ESR2
- ESS2
- ETHE1
- EVC
- EVC2
- EWSR1
- EXOC6B
- EXOSC1
- EXOSC2
- EXOSC3
- EXOSC5
- EXOSC8
- EXOSC9
- EXT1
- EXT2
- EXTL3
- EYA1
- EYS
- EZH2
Nom du gène
- F5
- FAH
- FAM111A
- FAM111B
- FAM149B1
- FAM161A
- FAM20A
- FAM20C
- FAM50A
- FAN1
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FAR1
- FARS2
- FARSA
- FARSB
- FAS
- FAT4
- FBLN5
- FBN1
- FBN2
- FBXL3
- FBXL4
- FBXO11
- FCGR2A
- FCHO1
- FDFT1
- FDXR
- FEZF1
- FGD1
- FGF12
- FGF13
- FGF17
- FGF23
- FGF3
- FGF8
- FGFR1
- FGFR2
- FGFR3
- FGFRL1
- FH
- FHL1
- FIBP
- FIG4
- FIP1L1
- FKBP10
- FKBP14
- FKBP6
- FKTN
- FLCN
- FLI1
- FLII
- FLNA
- FLNB
- FLNC
- FLRT3
- FLT1
- FLT4
- FLVCR2
- FN1
- FOCAD
- FOS
- FOXA2
- FOXC1
- FOXE1
- FOXE3
- FOXG1
- FOXH1
- FOXJ1
- FOXP1
- FOXP3
- FOXRED1
- FRMD4A
- FSCN2
- FSHB
- FSHR
- FTCD
- FTO
- FUCA1
- FUS
- FUT8
- FXR1
- FZD2
- FZD4
- FZR1
Nom du gène
- G6PC1
- G6PC3
- GAA
- GABBR2
- GABRA2
- GABRA3
- GABRA5
- GABRB2
- GABRD
- GABRG2
- GALC
- GALE
- GALK1
- GALM
- GALNS
- GALNT2
- GALT
- GARS1
- GAS1
- GATA1
- GATA2
- GATA3
- GATA4
- GATA5
- GATA6
- GATAD2B
- GATB
- GATC
- GATM
- GBA1
- GBE1
- GCDH
- GCK
- GCLC
- GDF1
- GDF5
- GDNF
- GEMIN4
- GFAP
- GFM1
- GFM2
- GGPS1
- GH1
- GHR
- GHRHR
- GHSR
- GIGYF2
- GINS1
- GJA1
- GJA5
- GJA8
- GJB2
- GJB3
- GJB4
- GJB6
- GK
- GLA
- GLB1
- GLE1
- GLI1
- GLI2
- GLI3
- GLIS3
- GLUD1
- GLYCTK
- GM2A
- GMNN
- GMPPA
- GNA11
- GNAI1
- GNAO1
- GNAQ
- GNAS
- GNAS-AS1
- GNB1
- GNB2
- GNE
- GNPAT
- GNPTAB
- GNPTG
- GNRH1
- GNRHR
- GNS
- GORAB
- GOT2
- GP1BB
- GPC3
- GPC4
- GPC6
- GPD1
- GPD2
- GPIHBP1
- GPKOW
- GPR101
- GPR161
- GPR35
- GPT2
- GPX4
- GRB10
- GRHL2
- GRIA3
- GRIA4
- GRIN1
- GRIN2A
- GRIN2D
- GRM1
- GRM7
- GSC
- GSTM3
- GTF2E2
- GTF2H5
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GTPBP2
- GTPBP3
- GUCA1B
- GUCY2D
- GUF1
- GUSB
- GYPC
- GYS2
- GZF1
Nom du gène
- H19
- H3-3B
- H4C11
- H4C3
- H4C5
- H6PD
- HAAO
- HACD1
- HACE1
- HADH
- HADHA
- HADHB
- HAVCR2
- HBA1
- HBA2
- HBB
- HCCS
- HCFC1
- HCN1
- HCRT
- HDAC4
- HDAC6
- HDAC8
- HEATR3
- HELLPAR
- HELLS
- HERC1
- HERC2
- HES7
- HESX1
- HEXB
- HEY2
- HFE
- HGD
- HGSNAT
- HHAT
- HIBCH
- HIC1
- HIKESHI
- HIRA
- HIVEP2
- HK1
- HLA-B
- HLA-DPA1
- HLA-DPB1
- HLA-DQA1
- HLA-DQB1
- HLA-DRB1
- HLCS
- HMGA1
- HMGA2
- HMGB3
- HMGCL
- HMOX1
- HNF1A
- HNF1B
- HNF4A
- HNRNPA1
- HNRNPA2B1
- HNRNPH1
- HNRNPH2
- HNRNPK
- HNRNPU
- HOXD13
- HPD
- HPDL
- HPGD
- HPRT1
- HRAS
- HS2ST1
- HS6ST1
- HSD11B1
- HSD11B2
- HSD17B4
- HSD3B2
- HSD3B7
- HSPA9
- HSPG2
- HTRA2
- HUWE1
- HYAL1
- HYLS1
- HYMAI
- HYOU1
Nom du gène
- IARS1
- IARS2
- IBA57
- ICOS
- IDH1
- IDH2
- IDH3A
- IDH3B
- IDUA
- IFIH1
- IFITM5
- IFNG
- IFNGR1
- IFT122
- IFT140
- IFT172
- IFT27
- IFT43
- IFT52
- IFT57
- IFT74
- IFT80
- IFT88
- IGBP1
- IGF1
- IGF1R
- IGF2
- IGF2BP2
- IGFALS
- IGH
- IGHM
- IGHMBP2
- IGLL1
- IGSF1
- IHH
- IKBKB
- IKBKG
- IKZF1
- IL10
- IL10RA
- IL11RA
- IL12A
- IL12A-AS1
- IL12B
- IL17RD
- IL1RN
- IL21
- IL21R
- IL23R
- IL2RA
- IL2RB
- IL2RG
- IL6
- IL6ST
- IL7R
- IMPDH1
- IMPG1
- IMPG2
- INPP5E
- INPP5K
- INPPL1
- INS
- INSR
- INTS1
- INTS8
- INTU
- INVS
- IPO8
- IPW
- IQCB1
- IQSEC1
- IQSEC2
- IRF2BP2
- IRF4
- IRF6
- IRF8
- IRS1
- IRS2
- IRS4
- ISCA1
- ITCH
- ITGA7
- ITGB4
- ITGB6
- ITPA
- ITPR2
- IYD
Nom du gène
- KANSL1
- KARS1
- KAT6A
- KAT6B
- KATNB1
- KATNIP
- KBTBD13
- KCNA1
- KCNA2
- KCNA4
- KCNAB2
- KCNB1
- KCNC3
- KCNH1
- KCNJ1
- KCNJ10
- KCNJ11
- KCNJ18
- KCNJ2
- KCNJ5
- KCNJ6
- KCNMA1
- KCNN3
- KCNN4
- KCNQ1
- KCNQ1OT1
- KDELR2
- KDM1A
- KDM3B
- KDM5C
- KDM6A
- KDR
- KDSR
- KIAA0586
- KIAA0753
- KIAA1549
- KIDINS220
- KIF11
- KIF14
- KIF15
- KIF1A
- KIF1B
- KIF1C
- KIF20A
- KIF22
- KIF23
- KIF2A
- KIF5C
- KIF7
- KIFBP
- KISS1
- KISS1R
- KIT
- KIZ
- KLF1
- KLF11
- KLHL41
- KLHL7
- KLLN
- KLRC4
- KMT2A
- KMT2B
- KMT2C
- KMT2D
- KMT5B
- KNL1
- KRAS
- KRT1
- KRT10
- KRT14
- KRT16
- KRT17
- KRT5
- KRT6A
- KRT6B
- KYNU
Nom du gène
- L1CAM
- LAGE3
- LAMA2
- LAMA3
- LAMA5
- LAMB3
- LAMC2
- LAMTOR2
- LARGE1
- LARP7
- LARS1
- LARS2
- LAS1L
- LAT
- LBR
- LCK
- LEMD2
- LEMD3
- LEP
- LEPR
- LETM1
- LFNG
- LGI3
- LGR4
- LHB
- LHCGR
- LHX1
- LHX3
- LHX4
- LIAS
- LIFR
- LIG1
- LIG3
- LIG4
- LIMK1
- LINS1
- LIPA
- LIPC
- LIPE
- LIPN
- LIPT1
- LMBR1
- LMBRD1
- LMNA
- LMNB1
- LMX1B
- LONP1
- LOX
- LOXL3
- LPIN2
- LRAT
- LRBA
- LRP12
- LRP4
- LRP5
- LRPPRC
- LRRC32
- LRRC8A
- LRRK1
- LRRK2
- LSM11
- LSS
- LTBP1
- LTBP2
- LTBP3
- LTBP4
- LTC4S
- LUZP1
- LYRM4
- LYRM7
- LYSET
- LZTFL1
- LZTR1
Nom du gène
- MAB21L2
- MACF1
- MAD2L2
- MADD
- MAF
- MAFB
- MAGEL2
- MAK
- MALT1
- MAMLD1
- MAN1B1
- MAN2B1
- MAP2K1
- MAP2K2
- MAP3K1
- MAP3K20
- MAP3K7
- MAPK1
- MAPK8IP1
- MAPK8IP3
- MAPKAPK5
- MAPRE2
- MARS1
- MARS2
- MASP1
- MAST1
- MAT2A
- MATN3
- MAX
- MBD5
- MBL2
- MBTPS1
- MBTPS2
- MC2R
- MC4R
- MCCC1
- MCCC2
- MCEE
- MCM3AP
- MCM4
- MCM7
- MCM9
- MCPH1
- MCTP2
- MDH1
- MDH2
- MDM2
- MECP2
- MECR
- MED12
- MED13L
- MED17
- MEFV
- MEG3
- MEGF10
- MEGF8
- MEIS2
- MEN1
- MERTK
- MESD
- MESP2
- METTL27
- METTL5
- MFAP5
- MFF
- MFSD2A
- MGAT2
- MGP
- MIA3
- MICOS13
- MICU1
- MID1
- MIF
- MIPEP
- MIR140
- MIR17HG
- MKKS
- MKRN3
- MKS1
- MLH1
- MLH3
- MLX
- MLXIPL
- MLYCD
- MMAA
- MMAB
- MMACHC
- MMADHC
- MMP1
- MMP13
- MMP2
- MMP21
- MMP23B
- MMP9
- MMUT
- MNX1
- MOCS1
- MOCS2
- MOG
- MORC2
- MPDU1
- MPI
- MPL
- MPLKIP
- MPV17
- MRAP
- MRAS
- MRE11
- MRPL12
- MRPL3
- MRPS14
- MRPS16
- MRPS2
- MRPS22
- MRPS25
- MRPS28
- MRPS7
- MS4A1
- MSH2
- MSH6
- MSMO1
- 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-RNR1
- MT-TC
- MT-TF
- MT-TH
- MT-TK
- MT-TL1
- MT-TN
- MT-TP
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TV
- MT-TW
- MTFMT
- MTHFR
- MTHFS
- MTM1
- MTMR14
- MTNR1B
- MTO1
- MTOR
- MTR
- MTRFR
- MTRR
- MTTP
- MTX2
- MUSK
- MVK
- MYCN
- MYF6
- MYH11
- MYH3
- MYH7
- MYH8
- MYL11
- MYL2
- MYLK
- MYMK
- MYMX
- MYO18B
- MYO5B
- MYOD1
- MYORG
- MYPN
- MYSM1
- MYT1L
Nom du gène
- NAA10
- NAB2
- NABP1
- NACC1
- NADK2
- NAGS
- NALCN
- NAT8L
- NBAS
- NBN
- NCAPD2
- NCAPD3
- NCAPG2
- NCAPH
- NCDN
- NDE1
- NDN
- NDNF
- NDP
- NDST1
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- 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
- NECAP1
- NECTIN1
- NEK1
- NEK10
- NEK2
- NEK9
- NELFA
- NEPRO
- NEU1
- NEUROD1
- NEUROD2
- NEUROG3
- NEXMIF
- NF2
- NFASC
- NFE2L2
- NFIX
- NFKB1
- NFKB2
- NFKBIL1
- NFU1
- NGLY1
- NHEJ1
- NHLH2
- NHLRC2
- NHP2
- NIN
- NIPAL4
- NIPBL
- NKAP
- NKX2-1
- NKX2-5
- NKX2-6
- NKX3-2
- NLRC4
- NLRP1
- NLRP3
- NMNAT1
- NNT
- NOD2
- NODAL
- NOG
- NONO
- NOP10
- NOS1
- NOS3
- NOTCH1
- NOTCH3
- NPAP1
- NPHP1
- NPHP3
- NPHP4
- NPHS1
- NPM1
- NPR2
- NPR3
- NR0B1
- NR1H4
- NR2E3
- NR2F1
- NR3C1
- NR3C2
- NR5A1
- NRAS
- NRCAM
- NRL
- NRTN
- NSD1
- NSD2
- NSDHL
- NSF
- NSMCE2
- NSMCE3
- NSMF
- NSRP1
- NSUN2
- NSUN3
- NTNG1
- NTRK1
- NTRK2
- NUBPL
- NUDT2
- NUMA1
- NUP107
- NUP133
- NUP188
- NUP214
- NUP62
- NUP85
- NUP88
- NUS1
- NXN
Nom du gène
Nom du gène
- P2RY11
- P3H1
- P4HA2
- P4HB
- P4HTM
- PACS1
- PAFAH1B1
- PAH
- PAICS
- PAK3
- PALB2
- PALLD
- PAM16
- PANK2
- PAPPA2
- PAPSS2
- PARN
- PARS2
- PAX1
- PAX2
- PAX4
- PAX6
- PAX8
- PBX1
- PCARE
- PCCA
- PCCB
- PCDH12
- PCGF2
- PCLO
- PCNA
- PCNT
- PCSK1
- PCYT1A
- PDE11A
- PDE3A
- PDE4D
- PDE6A
- PDE6B
- PDE6D
- PDE6G
- PDE8B
- PDGFB
- PDGFRB
- PDHA1
- PDHB
- PDHX
- PDPN
- PDSS1
- PDSS2
- PDX1
- PEPD
- PERCC1
- PET100
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PGAP1
- PGAP2
- PGAP3
- PGM1
- PGM3
- PHC1
- PHEX
- PHF21A
- PHF6
- PHGDH
- PHIP
- PHKA2
- PHKB
- PHKG2
- PI4KA
- PIEZO1
- PIEZO2
- PIGA
- PIGB
- PIGG
- PIGH
- PIGL
- PIGN
- PIGO
- PIGP
- PIGQ
- PIGT
- PIGV
- PIGW
- PIGY
- PIK3C2A
- PIK3CA
- PIK3R1
- PIK3R2
- PISD
- PITX1
- PITX2
- PKD1L1
- PKDCC
- PKHD1
- PKLR
- PKP1
- PLAA
- PLAG1
- PLAGL1
- PLCH1
- PLEC
- PLK4
- PLOD1
- PLOD2
- PLOD3
- PLP1
- PLXND1
- PML
- PMM2
- PMPCA
- PMPCB
- PMS1
- PMS2
- PNKP
- PNP
- PNPLA1
- PNPLA2
- PNPLA6
- PNPLA8
- PNPO
- PNPT1
- POC1A
- POF1B
- POGZ
- POLA1
- POLE
- POLG
- POLG2
- POLH
- POLR1A
- POLR1B
- POLR1C
- POLR1D
- POLR2A
- POLR3A
- POLR3B
- POLR3GL
- POLR3H
- POLR3K
- POLRMT
- POMC
- POMGNT1
- POMP
- POP1
- POR
- PORCN
- POU1F1
- POU3F4
- POU6F2
- PPARG
- PPFIBP1
- PPIB
- PPM1B
- PPM1D
- PPP1CB
- PPP1R15B
- PPP1R3A
- PPP2R3C
- PPP2R5D
- PPP3CA
- PQBP1
- PRCD
- PRDM13
- PRDM16
- PRDX1
- PREPL
- PRF1
- PRIM1
- PRKACA
- PRKACB
- PRKAR1A
- PRKAR1B
- PRKCD
- PRKCZ
- PRKDC
- PRKG1
- PRKG2
- PRMT7
- PRNP
- PROK2
- PROKR2
- PROM1
- PROP1
- PRORP
- PRPF3
- PRPF31
- PRPF4
- PRPF6
- PRPF8
- PRPH2
- PRPS1
- PRR12
- PRTN3
- PSAP
- PSAT1
- PSMB10
- PSMB4
- PSMB8
- PSMB9
- PSMC1
- PSMC3IP
- PSMD12
- PSPH
- PTCD3
- PTCH1
- PTDSS1
- PTEN
- PTF1A
- PTH1R
- PTHLH
- PTPN1
- PTPN11
- PTPN2
- PTPN22
- PTRH2
- PTS
- PUF60
- PUM1
- PUS1
- PUS3
- PUS7
- PWAR1
- PWRN1
- PYCR1
- PYCR2
- PYGL
- PYROXD1
Nom du gène
- RAB18
- RAB23
- RAB33B
- RAB39B
- RAB3GAP1
- RAB3GAP2
- RABL3
- RAC1
- RAC2
- RACGAP1
- RAD21
- RAD50
- RAD51
- RAD51C
- RAF1
- RAG1
- RAG2
- RAI1
- RAPSN
- RARA
- RARB
- RARS2
- RASA1
- RASA2
- RASGRP1
- RB1
- RBBP8
- RBCK1
- RBM10
- RBM28
- RBMX
- RBP3
- RBPJ
- RDH11
- RDH12
- RECQL4
- REEP6
- RELB
- RELN
- RERE
- REST
- RET
- RETN
- RFC2
- RFT1
- RFWD3
- RFX5
- RFX6
- RFXANK
- RFXAP
- RGR
- RHAG
- RHBDF2
- RHCE
- RHD
- RHO
- RIGI
- RIN2
- RINT1
- RIPK1
- RIPK4
- RIPPLY2
- RIT1
- RLBP1
- RLIM
- RMRP
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF113A
- RNF125
- RNF13
- RNF135
- RNF168
- RNF2
- RNF216
- RNPC3
- RNU4ATAC
- RNU7-1
- ROBO1
- ROGDI
- ROM1
- ROR2
- RP1
- RP1L1
- RP2
- RP9
- RPE65
- RPGR
- RPL10
- RPL11
- RPL13
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL5
- RPS10
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS23
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS6KA3
- RPS7
- RRAS
- RRAS2
- RREB1
- RRM2B
- RSPH4A
- RSPH9
- RSPO4
- RSPRY1
- RTEL1
- RTL1
- RTTN
- RUNX1
- RUNX2
- RYR1
Nom du gène
- SAG
- SALL1
- SALL4
- SAMD9
- SAMHD1
- SAR1B
- SARS1
- SARS2
- SASS6
- SATB1
- SATB2
- SBDS
- SC5D
- SCAPER
- SCARB2
- SCN1B
- SCN2A
- SCN3A
- SCN4A
- SCN8A
- SCNN1A
- SCNN1B
- SCNN1G
- SCO1
- SCO2
- SCUBE3
- SDCCAG8
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHC
- SDHD
- SDR9C7
- SEC23A
- SEC23B
- SEC24C
- SEC24D
- SEC31A
- SEC61A1
- SECISBP2
- SELENOI
- SELENON
- SEMA3A
- SEMA3C
- SEMA3D
- SEMA3E
- SEMA4A
- SEMA4D
- SEMA5A
- SEPTIN9
- SERAC1
- SERPINA1
- SERPINH1
- SET
- SETBP1
- SETD1A
- SETD2
- SETD5
- SF3B4
- SFTPB
- SFTPC
- SFXN4
- SGMS2
- SGO1
- SGSH
- SH2B1
- SH3KBP1
- SH3PXD2B
- SH3TC2
- SHANK3
- SHH
- SHMT2
- SHOC2
- SHPK
- SHQ1
- SHROOM4
- SIGMAR1
- SIK1
- SIK3
- SIL1
- SIM1
- SIN3A
- SIX2
- SIX3
- SIX6
- SKI
- SKIC2
- SKIC3
- SLC10A2
- SLC10A7
- SLC11A1
- SLC12A1
- SLC12A3
- SLC13A5
- SLC16A2
- SLC17A5
- SLC18A3
- SLC19A2
- SLC19A3
- SLC1A2
- SLC1A3
- SLC20A2
- SLC22A4
- SLC22A5
- SLC25A11
- SLC25A13
- SLC25A15
- SLC25A21
- SLC25A22
- SLC25A24
- SLC25A3
- SLC25A4
- SLC25A46
- SLC26A2
- SLC26A3
- SLC26A4
- SLC26A9
- SLC29A3
- SLC2A1
- SLC2A2
- SLC2A3
- SLC30A8
- SLC30A9
- SLC34A1
- SLC34A2
- SLC34A3
- SLC35A2
- SLC35C1
- SLC35D1
- SLC37A4
- SLC38A3
- SLC39A13
- SLC39A4
- SLC39A7
- SLC39A8
- SLC3A1
- SLC46A1
- SLC4A1
- SLC4A4
- SLC51A
- SLC5A1
- SLC5A2
- SLC5A5
- SLC6A14
- SLC6A19
- SLC6A8
- SLC7A14
- SLC7A7
- SLC9A1
- SLC9A3
- SLC9A6
- SLX4
- SMAD2
- SMAD3
- SMAD4
- SMARCA2
- SMARCA4
- SMARCAL1
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCD2
- SMARCE1
- SMC1A
- SMC3
- SMG8
- SMG9
- SMO
- SMOC1
- SMPD1
- SMPD4
- SMS
- SNAP29
- SNCA
- SNORD115-1
- SNORD116-1
- SNRNP200
- SNRPB
- SNRPN
- SNX10
- SOHLH1
- SON
- SOS1
- SOS2
- SOST
- SOX10
- SOX11
- SOX2
- SOX3
- SOX4
- SOX9
- SP110
- SP7
- SPARC
- SPART
- SPATA5
- SPATA7
- SPECC1L
- SPEN
- SPG11
- SPIDR
- SPINK1
- SPINK5
- SPOP
- SPR
- SPRED1
- SPRED2
- SPRTN
- SPRY4
- SPTA1
- SPTB
- SPTBN1
- SPTLC1
- SRCAP
- SRD5A3
- SREBF1
- SRP54
- SRPX2
- SRSF2
- SRY
- SSR4
- ST3GAL5
- STAC3
- STAG1
- STAG2
- STAMBP
- STAR
- STAT1
- STAT3
- STAT4
- STAT5B
- STAT6
- STEAP3
- STEEP1
- STIL
- STIM1
- STING1
- STN1
- STOX1
- STRA6
- STRADA
- STS
- STT3A
- STT3B
- STUB1
- STX16
- STX1A
- SUCLA2
- SUCLG1
- SUFU
- SUGCT
- SULT2B1
- SUMF1
- SURF1
- SUZ12
- SYK
- SYNE1
- SYNE2
- SYNGAP1
- SYNJ1
- SYT2
- SZT2
Nom du gène
- TAB2
- TAC3
- TACO1
- TACR3
- TAF1
- TAF13
- TAF6
- TAFAZZIN
- TALDO1
- TAOK1
- TAPT1
- TARS1
- TASP1
- TAT
- TBC1D20
- TBC1D23
- TBC1D2B
- TBCD
- TBCE
- TBL1XR1
- TBL2
- TBR1
- TBX1
- TBX15
- TBX2
- TBX22
- TBX3
- TBX4
- TBX6
- TCF12
- TCF20
- TCF3
- TCF4
- TCF7L2
- TCIRG1
- TCN2
- TCOF1
- TCTN3
- TDGF1
- TECPR2
- TELO2
- TERC
- TERT
- TET2
- TFAM
- TFAP2A
- TFE3
- TFRC
- TGDS
- TGFB1
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TGIF1
- TGM1
- THG1L
- THOC2
- THPO
- THRA
- THRB
- THSD4
- THUMPD1
- TIAM1
- TIMM22
- TIMM50
- TIMMDC1
- TINF2
- TJP2
- TK2
- TKFC
- TKT
- TLK2
- TLL1
- TLR4
- TLR8
- TMCO1
- TMEM106B
- TMEM126B
- TMEM127
- TMEM165
- TMEM216
- TMEM218
- TMEM237
- TMEM270
- TMEM38B
- TMEM43
- TMEM53
- TMEM67
- TMEM70
- TMPRSS15
- TNFRSF11A
- TNFRSF11B
- TNFRSF13B
- TNFRSF13C
- TNFSF11
- TNFSF12
- TNFSF4
- TNNI2
- TNNI3
- TNNT2
- TNNT3
- TNPO2
- TOGARAM1
- TOM1
- TONSL
- TOP3A
- TOPORS
- TOR1A
- TP53
- TP53RK
- TP63
- TPI1
- TPM2
- TPM3
- TPRKB
- TRAC
- TRAF3IP1
- TRAF7
- TRAIP
- TRAK1
- TRAPPC10
- TRAPPC11
- TRAPPC14
- TRAPPC2
- TRAPPC6B
- TRAPPC9
- TREX1
- TRH
- TRHR
- TRIM28
- TRIM32
- TRIM37
- TRIM8
- TRIO
- TRIP11
- TRIP12
- TRIP13
- TRIP4
- TRIT1
- TRMT1
- TRMT10A
- TRMT10C
- TRMT5
- TRNT1
- TRPS1
- TRPV4
- TRPV6
- TRRAP
- TSFM
- TSHB
- TSHR
- TSPYL1
- TSR2
- TTC21B
- TTC26
- TTC7A
- TTC8
- TTI2
- TTN
- TTR
- TUB
- TUBA1A
- TUBB
- TUBB2B
- TUBB3
- TUBB4A
- TUBGCP4
- TUBGCP6
- TUFM
- TULP1
- TWIST1
- TWIST2
- TWNK
- TXNL4A
- TXNRD2
- TYMP
- TYMS
Nom du gène
Nom du gène
Nom du gène
Division Internationale
Lundi-Vendredi : 8h30 - 18h30
Tél : +33 4 72 80 23 85
Contact par email
Tél : +33 4 72 80 23 85
Contact par email
