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Abnormality of the nervous system
Code Aire thérapeutique (HPO) :
HP:0000707Panel par pathologie associée :
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Code pathologie
Nom de la pathologie
- ORPHA:276413 10q22.3q23.3 microdeletion syndrome
- ORPHA:276422 10q22.3q23.3 microduplication 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:261120 14q11.2 microdeletion syndrome
- ORPHA:264200 14q22q23 microdeletion syndrome
- ORPHA:401935 14q24.1q24.3 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:261183 15q11.2 microdeletion 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:261204 16p11.2p12.2 microduplication syndrome
- ORPHA:485405 16p12.1p12.3 triplication syndrome
- ORPHA:261236 16p13.11 microdeletion syndrome
- ORPHA:261243 16p13.11 microduplication syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:261250 16q24.3 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:261272 17q12 microduplication 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:357001 19p13.13 microdeletion syndrome
- ORPHA:447980 19p13.3 microduplication syndrome
- ORPHA:217346 19q13.11 microdeletion syndrome
- ORPHA:293948 1p21.3 microdeletion syndrome
- ORPHA:401986 1p31p32 microdeletion syndrome
- ORPHA:1606 1p36 deletion syndrome
- ORPHA:250989 1q21.1 microdeletion syndrome
- ORPHA:250994 1q21.1 microduplication syndrome
- ORPHA:250999 1q41q42 microdeletion syndrome
- ORPHA:238769 1q44 microdeletion syndrome
- OMIM:616034 2,4-Dienoyl-Coa reductase deficiency
- OMIM:610006 2-Methylbutyryl-Coa dehydrogenase 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:313947 2q23.1 microduplication syndrome
- ORPHA:1617 2q24 microdeletion syndrome
- ORPHA:251014 2q31.1 microdeletion syndrome
- ORPHA:251019 2q32q33 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- OMIM:250951 3-@methylglutaconic aciduria, type IV
- OMIM:610198 3-@methylglutaconic aciduria, type V
- ORPHA:20 3-hydroxy-3-methylglutaric aciduria
- OMIM:246450 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency
- ORPHA:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- OMIM:231530 3-Hydroxyacyl-Coa dehydrogenase deficiency
- ORPHA:939 3-hydroxyisobutyric aciduria
- OMIM:236795 3-hydroxyisobutyric aciduria
- OMIM:250620 3-Hydroxyisobutyryl-Coa hydrolase deficiency
- OMIM:273750 3-M syndrome 1
- OMIM: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:67047 3-methylglutaconic aciduria type 3
- ORPHA:67048 3-methylglutaconic aciduria type 4
- ORPHA:445038 3-methylglutaconic aciduria type 7
- ORPHA:505216 3-methylglutaconic aciduria type 9
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- OMIM:614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
- OMIM:250950 3-methylglutaconic aciduria, type I
- OMIM:258501 3-methylglutaconic aciduria, type III
- OMIM:617698 3-methylglutaconic aciduria, type IX
- OMIM:619835 3-methylglutaconic aciduria, type VIIA, autosomal dominant
- OMIM:617248 3-methylglutaconic aciduria, type VIII
- ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form
- ORPHA:7 3C syndrome
- ORPHA:2616 3M syndrome
- ORPHA:293843 3MC syndrome
- OMIM:257920 3mc syndrome 1
- OMIM:265050 3mc syndrome 2
- OMIM:248340 3MC syndrome 3
- ORPHA:435638 3p25.3 microdeletion syndrome
- ORPHA:1621 3q13 microdeletion syndrome
- 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:228384 5q14.3 microdeletion syndrome
- ORPHA:228415 5q35 microduplication syndrome
- ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency
- ORPHA:251046 6p22 microdeletion syndrome
- ORPHA:75857 6q terminal deletion syndrome
- ORPHA:171829 6q16 microdeletion syndrome
- ORPHA:251056 6q25 microdeletion syndrome
- ORPHA:314034 7p22.1 microduplication syndrome
- ORPHA:96121 7q11.23 microduplication syndrome
- ORPHA:96092 8p inverted duplication/deletion syndrome
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:251076 8p23.1 duplication syndrome
- ORPHA:251071 8p23.1 microdeletion syndrome
- ORPHA:228399 8q12 microduplication syndrome
- ORPHA:284160 8q21.11 microdeletion syndrome
- ORPHA:178303 8q22.1 microdeletion syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
- ORPHA:324313 9p13 microdeletion syndrome
- ORPHA:531151 9q21.13 microdeletion syndrome
- ORPHA:401923 9q31.1q31.3 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Code pathologie
Nom de la pathologie
- OMIM:305400 Aarskog-Scott syndrome
- ORPHA:915 Aarskog-Scott syndrome
- ORPHA:916 Aase-Smith syndrome
- OMIM:147800 Aase-Smith syndrome I
- OMIM:600501 ABCD syndrome
- OMIM:615812 Abdominal obesity-metabolic syndrome 3
- OMIM:100200 Abducens palsy
- ORPHA:324723 ABeta amyloidosis, Arctic type
- ORPHA:100006 ABeta amyloidosis, Dutch type
- ORPHA:324708 ABeta amyloidosis, Iowa type
- ORPHA:324713 ABeta amyloidosis, Italian type
- ORPHA:324703 ABetaL34V amyloidosis
- OMIM:200100 ABETALIPOPROTEINEMIA
- ORPHA:14 Abetalipoproteinemia
- ORPHA:920 Ablepharon macrostomia syndrome
- OMIM:200110 Ablepharon-Macrostomia syndrome
- OMIM:261990 Abnormal hair, joint laxity, and developmental delay
- OMIM:200130 Absent eyebrows and eyelashes with mental retardation
- ORPHA:3016 Absent radius-anogenital anomalies syndrome
- ORPHA:945 Acalvaria
- ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
- ORPHA:926 Acatalasemia
- OMIM:619959 ACCES syndrome
- OMIM:604290 ACERULOPLASMINEMIA
- ORPHA:48818 Aceruloplasminemia
- ORPHA:99736 Acetazolamide-responsive myotonia
- OMIM:614055 Acetyl-Coa acetyltransferase-2 deficiency
- OMIM:231550 Achalasia-Addisonianism-Alacrima syndrome
- ORPHA:929 Achalasia-microcephaly syndrome
- OMIM:200450 Achalasia-Microcephaly syndrome
- OMIM:100800 Achondroplasia
- ORPHA:15 Achondroplasia
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- ORPHA:49382 Achromatopsia
- OMIM:216900 Achromatopsia 2
- OMIM:262300 Achromatopsia 3
- OMIM:613856 Achromatopsia 4
- OMIM:616517 Achromatopsia 7
- ORPHA:40366 Acitretin/etretinate embryopathy
- ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage
- ORPHA:95626 Acquired central diabetes insipidus
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- ORPHA:464453 Acquired methemoglobinemia
- ORPHA:79087 Acquired partial lipodystrophy
- ORPHA:49566 Acquired purpura fulminans
- ORPHA:99147 Acquired von Willebrand syndrome
- ORPHA:958 Acro-renal-mandibular syndrome
- ORPHA:959 Acro-renal-ocular syndrome
- OMIM:200990 Acrocallosal syndrome
- ORPHA:36 Acrocallosal syndrome
- OMIM:607778 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
- ORPHA:2956 Acrodysplasia scoliosis
- OMIM:154400 Acrofacial dysostosis 1, Nager type
- 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:1784 Acrofrontofacionasal dysostosis
- OMIM:201180 Acrofrontofacionasal dysostosis 1
- OMIM:239710 Acrofrontofacionasal dysostosis 2
- ORPHA:2500 Acrogeria
- OMIM:102150 Acromegaloid facial appearance syndrome
- ORPHA:963 Acromegaly
- OMIM:603671 Acromelic frontonasal dysostosis
- ORPHA:1827 Acromelic frontonasal dysplasia
- OMIM:200700 Acromesomelic dysplasia 2A
- OMIM:609441 Acromesomelic dysplasia, Demirhan type
- ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type
- OMIM:602875 Acromesomelic dysplasia, Maroteaux type
- ORPHA:969 Acromicric dysplasia
- ORPHA:2980 Acrootoocular syndrome
- OMIM:605967 Acropectoral syndrome
- ORPHA:957 Acropectorovertebral dysplasia
- OMIM:102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF
- OMIM:201400 Acth deficiency, isolated
- OMIM:219080 ACTH-independent macronodular adrenal hyperplasia
- OMIM:615954 ACTH-independent macronodular adrenal hyperplasia 2
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:529799 Acute bilirubin encephalopathy
- ORPHA:83597 Acute disseminated encephalomyelitis
- ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion
- ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy
- ORPHA:79276 Acute intermittent porphyria
- ORPHA:90062 Acute liver failure
- ORPHA:178320 Acute lung injury
- ORPHA:90064 Acute peripheral arterial occlusion
- ORPHA:520 Acute promyelocytic leukemia
- ORPHA:139417 Acute transverse myelitis
- ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency
- OMIM:201450 Acyl-Coa dehydrogenase, medium-chain, deficiency of
- OMIM:201470 Acyl-Coa dehydrogenase, short-chain, deficiency of
- ORPHA:100008 ACys amyloidosis
- ORPHA:974 Adams-Oliver syndrome
- OMIM:100300 Adams-Oliver syndrome 1
- OMIM:614219 Adams-Oliver syndrome 2
- OMIM:614814 Adams-Oliver syndrome 3
- OMIM:616028 Adams-Oliver syndrome 5
- ORPHA:85138 Addison disease
- OMIM:201550 Adducted thumbs syndrome
- ORPHA:95512 Adenohypophysitis
- OMIM:175100 Adenomatous polyposis coli
- OMIM:103050 Adenylosuccinase deficiency
- ORPHA:46 Adenylosuccinate lyase deficiency
- ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy
- OMIM:103100 Adie pupil
- OMIM:103200 Adiposis dolorosa
- ORPHA:36397 Adiposis dolorosa
- ORPHA:404448 ADNP syndrome
- OMIM:613743 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
- ORPHA:1501 Adrenocortical carcinoma
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- OMIM:202300 Adrenocortical carcinoma, pediatric
- OMIM:300100 Adrenoleukodystrophy
- ORPHA:139399 Adrenomyeloneuropathy
- ORPHA:977 Adrenomyodystrophy
- OMIM:300270 ADRENOMYODYSTROPHY
- ORPHA:178487 Adult intestinal botulism
- ORPHA:206448 Adult Krabbe disease
- ORPHA:79262 Adult neuronal ceroid lipofuscinosis
- ORPHA:206583 Adult polyglucosan body disease
- ORPHA:99027 Adult-onset autosomal dominant leukodystrophy
- ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia
- ORPHA:420492 Adult-onset cervical dystonia, DYT23 type
- ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329478 Adult-onset distal myopathy due to VCP mutation
- ORPHA:199351 Adult-onset dystonia-parkinsonism
- ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- ORPHA:171442 Adult-onset nemaline myopathy
- ORPHA:829 Adult-onset Still disease
- OMIM:620015 Advance sleep phase syndrome, familial, 4
- OMIM:604348 Advanced sleep phase syndrome, familial, 1
- OMIM:615224 Advanced sleep phase syndrome, familial, 2
- OMIM:616882 Advanced sleep phase syndrome, familial, 3
- OMIM:202400 Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included
- ORPHA:3385 African trypanosomiasis
- OMIM:619707 Agammaglobulinemia 10, autosomal dominant
- OMIM:613500 Agammaglobulinemia 2, autosomal recessive
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- OMIM:202550 Aganglionosis, total intestinal
- ORPHA:85448 AGel amyloidosis
- OMIM:202600 Agenesis of cerebral white matter
- OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- OMIM:613623 Agenesis of the corpus callosum and congenital lymphedema
- OMIM:218000 Agenesis of the corpus callosum with peripheral neuropathy
- ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome
- OMIM:202650 Agnathia-Otocephaly complex
- ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- ORPHA:250977 AICA-ribosiduria
- OMIM:608688 Aicar transformylase/imp cyclohydrolase deficiency
- ORPHA:50 Aicardi syndrome
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:610181 Aicardi-Goutieres syndrome 2
- OMIM:610329 Aicardi-Goutieres syndrome 3
- OMIM:610333 Aicardi-Goutieres syndrome 4
- OMIM:612952 Aicardi-Goutieres syndrome 5
- OMIM:615010 Aicardi-Goutieres syndrome 6
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619486 Aicardi-Goutieres syndrome 8
- OMIM:619487 Aicardi-Goutieres syndrome 9
- ORPHA:85443 AL amyloidosis
- OMIM:617694 Al Kaissi syndrome
- OMIM:607131 Al-Gazali-Bakalinova syndrome
- OMIM:616459 Al-Raqad syndrome
- OMIM:601549 ALACRIMA
- OMIM:615510 Alacrima, achalasia, and mental retardation syndrome
- OMIM:103420 Alacrima, congenital
- 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
- OMIM:300500 Albinism, ocular, type I
- OMIM:300650 Albinism, ocular, with late-onset sensorineural deafness
- OMIM:203100 Albinism, oculocutaneous, type IA
- OMIM:606952 Albinism, oculocutaneous, type IB
- OMIM:615312 Albinism, oculocutaneous, type V
- OMIM:615179 Albinism, oculocutaneous, type V
- OMIM:113750 Albinism, oculocutaneous, type VI
- ORPHA:998 Albinism-deafness syndrome
- OMIM:103780 Alcohol dependence
- ORPHA:35664 ALDH18A1-related De Barsy syndrome
- ORPHA:58 Alexander disease
- OMIM:203450 Alexander disease
- ORPHA:363717 Alexander disease type I
- ORPHA:363722 Alexander disease type II
- ORPHA:79327 ALG1-CDG
- ORPHA:280071 ALG11-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:324422 ALG13-CDG
- ORPHA:79326 ALG2-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79320 ALG6-CDG
- ORPHA:79325 ALG8-CDG
- ORPHA:79328 ALG9-CDG
- OMIM:617822 Alkuraya-Kucinskas syndrome
- ORPHA:59 Allan-Herndon-Dudley syndrome
- OMIM:300523 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:104130 Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality
- OMIM:203550 Alopecia-Contractures-Dwarfism mental retardation syndrome
- ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome
- ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- ORPHA:2850 Alopecia-intellectual disability syndrome
- ORPHA:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
- OMIM:203650 Alopecia-Mental retardation syndrome 1
- OMIM:610422 Alopecia-Mental retardation syndrome 2
- OMIM:613930 Alopecia-Mental retardation syndrome 3
- OMIM:618840 Alopecia-mental retardation syndrome 4
- ORPHA:726 Alpers-Huttenlocher syndrome
- OMIM:204750 Alpha-aminoadipic and alpha-ketoadipic aciduria
- ORPHA:399058 Alpha-B crystallin-related late-onset myopathy
- ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency
- OMIM:248500 Alpha-mannosidosis
- ORPHA:61 Alpha-mannosidosis
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- OMIM:203750 Alpha-Methylacetoacetic aciduria
- OMIM:614307 Alpha-methylacyl-CoA racemase deficiency
- ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1
- ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2
- ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3
- ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
- ORPHA:846 Alpha-thalassemia
- ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome
- OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked
- ORPHA:63 Alport syndrome
- ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- ORPHA:2131 Alternating hemiplegia of childhood
- OMIM:104290 Alternating hemiplegia of childhood 1
- OMIM:614820 Alternating hemiplegia of childhood 2
- OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- ORPHA:284 Alveolar echinococcosis
- OMIM:619268 Alzahrani-Kuwahara syndrome
- OMIM:104300 Alzheimer disease
- OMIM:609636 Alzheimer disease 10
- OMIM:104310 Alzheimer disease 2
- OMIM:607822 Alzheimer disease 3
- OMIM:606889 Alzheimer disease 4
- OMIM:602096 Alzheimer disease 5
- OMIM:608907 Alzheimer disease 9, susceptibility to
- OMIM:605055 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology
- OMIM:104350 Amastia, bilateral, with ureteral triplication and dysmorphism
- OMIM:204110 Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- ORPHA:1021 Amaurosis-hypertrichosis syndrome
- OMIM:619151 AMED syndrome, digenic
- OMIM:604498 Amegakaryocytic thrombocytopenia, congenital
- ORPHA:1946 Amelocerebrohypohidrotic syndrome
- OMIM:104600 Amenorrhea-Galactorrhea syndrome
- ORPHA:3386 American trypanosomiasis
- OMIM:204730 Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis
- OMIM:609924 Aminoacylase 1 deficiency
- OMIM:600325 Aminopterin syndrome sine aminopterin
- ORPHA:1908 Aminopterin/methotrexate embryofetopathy
- ORPHA:99742 Amish lethal microcephaly
- ORPHA:98902 Amish nemaline myopathy
- OMIM:300194 AMME complex
- ORPHA:68 Amoebiasis due to free-living amoebae
- ORPHA:67043 Amoebic keratitis
- OMIM:204850 Amyloidosis of gingiva and conjunctiva, with mental retardation
- OMIM:105150 Amyloidosis VI
- OMIM:105200 Amyloidosis, familial visceral
- OMIM:105120 Amyloidosis, Finnish type
- OMIM:105210 Amyloidosis, hereditary, transthyretin-related
- OMIM:105250 Amyloidosis, primary localized cutaneous, 1
- OMIM:105300 Amyotrophic dystonic paraplegia
- ORPHA:803 Amyotrophic lateral sclerosis
- OMIM:105400 Amyotrophic lateral sclerosis 1
- OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia
- OMIM:612577 Amyotrophic lateral sclerosis 11
- OMIM:613435 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia
- OMIM:300857 Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia
- OMIM:614373 Amyotrophic lateral sclerosis 16, juvenile
- OMIM:614808 Amyotrophic lateral sclerosis 18
- OMIM:615515 Amyotrophic lateral sclerosis 19
- OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile
- OMIM:615426 Amyotrophic lateral sclerosis 20
- OMIM:606070 Amyotrophic lateral sclerosis 21
- OMIM:616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
- OMIM:617839 Amyotrophic lateral sclerosis 23
- OMIM:619133 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
- OMIM:606640 Amyotrophic lateral sclerosis 3
- OMIM:602433 Amyotrophic lateral sclerosis 4, juvenile
- OMIM:602099 Amyotrophic lateral sclerosis 5, juvenile
- OMIM:608030 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
- OMIM:608627 Amyotrophic lateral sclerosis 8
- OMIM:611895 Amyotrophic lateral sclerosis 9
- ORPHA:357043 Amyotrophic lateral sclerosis type 4
- OMIM:205250 Amyotrophic lateral sclerosis with polyglucosan bodies
- OMIM:205200 Amyotrophic lateral sclerosis, juvenile, with dementia
- OMIM:617892 Amyotrophic lateral sclerosis, susceptibility to, 24
- OMIM:617921 Amyotrophic lateral sclerosis, susceptibility to, 25
- OMIM:105500 Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
- OMIM:162100 Amyotrophy, hereditary neuralgic
- OMIM:602440 Amyotrophy, monomelic
- OMIM:616000 Analbuminemia
- ORPHA:142 Anaplastic thyroid carcinoma
- OMIM:607095 Anauxetic dysplasia 1
- OMIM:618853 Anauxetic dysplasia 3
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- ORPHA:37553 Andersen-Tawil syndrome
- OMIM:300068 Androgen insensitivity syndrome
- ORPHA:157954 ANE syndrome
- OMIM:301310 Anemia, sideroblastic, and spinocerebellar ataxia
- OMIM:206500 Anencephaly
- OMIM:619452 Anencephaly 2
- ORPHA:1054 Aneurysm of sinus of Valsalva
- OMIM:105800 Aneurysm, intracranial berry, 1
- OMIM:618734 Aneurysm, intracranial berry, 12
- OMIM:608542 Aneurysm, intracranial berry, 2
- OMIM:609122 Aneurysm, intracranial berry, 3
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- 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
- ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15
- OMIM:106100 Angioedema, hereditary, 1
- OMIM:106070 Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included
- OMIM:206570 Angiomatosis, diffuse corticomeningeal, of divry and van bogaert
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:75508 Angioosteohypotrophic syndrome
- OMIM:611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
- ORPHA:74 Angiostrongyliasis
- OMIM:106210 Aniridia
- OMIM:206750 Aniridia, partial, with unilateral renal agenesis and psychomotorretardation
- ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
- ORPHA:1068 Aniridia-intellectual disability syndrome
- ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome
- ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome
- ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12
- ORPHA:1094 Anonychia-microcephaly syndrome
- ORPHA:1104 Anophthalmia plus syndrome
- ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome
- OMIM:301700 ANOSMIA
- OMIM:207000 Anosmia for isobutyric acid
- OMIM:107200 Anosmia, congenital
- ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita
- OMIM:601427 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
- ORPHA:51890 Anterior cutaneous nerve entrapment syndrome
- OMIM:601631 Anterior segment dysgenesis 3
- ORPHA:81 Antisynthetase syndrome
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- OMIM:207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- ORPHA:1457 Aorta coarctation
- OMIM:617168 Aortic aneurysm, familial thoracic 10
- OMIM:132900 Aortic aneurysm, familial thoracic 4
- OMIM:611788 Aortic aneurysm, familial thoracic 6
- OMIM:616166 Aortic aneurysm, familial thoracic 9
- OMIM:107500 Aortic arch anomaly with peculiar facies and mental retardation
- ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- ORPHA:2299 Aortic arch interruption
- OMIM:107550 Aortic arch interruption, facial palsy, and retinal coloboma
- ORPHA:247806 APC-related attenuated familial adenomatous polyposis
- OMIM:101200 Apert syndrome
- ORPHA:87 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
- ORPHA:1114 Aplasia cutis congenita
- ORPHA:1117 Aplasia cutis-myopia syndrome
- OMIM:207740 Aplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy
- OMIM:207720 Apnea, central sleep
- OMIM:107640 Apnea, central sleep
- OMIM:107650 Apnea, obstructive sleep
- ORPHA:320 Apparent mineralocorticoid excess
- OMIM:601374 Aprosencephaly and cerebellar dysgenesis
- OMIM:207770 Aprosencephaly syndrome
- ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome
- ORPHA:2356 Arachnoid cyst
- ORPHA:137817 Arachnoiditis
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:101096 Aregenerative anemia
- OMIM:207800 Argininemia
- ORPHA:90 Argininemia
- OMIM:207900 Argininosuccinic aciduria
- ORPHA:23 Argininosuccinic aciduria
- OMIM:243910 Arima syndrome
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:1136 Arnold-Chiari malformation type II
- OMIM:608643 Aromatic L-amino acid decarboxylase deficiency
- ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome
- OMIM:604400 Arrhythmogenic right ventricular dysplasia, familial, 5
- ORPHA:1682 Arterial dissection-lentiginosis syndrome
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:208050 Arterial tortuosity syndrome
- OMIM:108010 Arteriovenous malformation of the brain, somatic
- OMIM:108050 Arteritis, familial granulomatous, with juvenile polyarthritis
- 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
- OMIM:619334 Arthrogryposis multiplex congenita 6
- OMIM:208155 Arthrogryposis multiplex congenita with whistling face
- OMIM:618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
- OMIM:617468 Arthrogryposis multiplex congenita, neurogenic, with myelin defect
- ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome
- OMIM:618265 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- OMIM:300158 Arthrogryposis, congenital, lower limb, X-linked
- OMIM:187370 Arthrogryposis, distal, type 10
- OMIM:108120 Arthrogryposis, distal, type 1A
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:121070 Arthrogryposis, distal, type 2E
- OMIM:114300 Arthrogryposis, distal, type 3
- OMIM:609128 Arthrogryposis, distal, type 4
- OMIM:108145 Arthrogryposis, distal, type 5
- OMIM:158300 Arthrogryposis, distal, type 7
- OMIM:617146 Arthrogryposis, distal, with impaired proprioception and touch
- OMIM:208081 Arthrogryposis, distal, with mental retardation and characteristicfacies
- OMIM:301815 Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
- OMIM:615553 Arthrogryposis, mental retardation, and seizures
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- OMIM:208230 Arthropathy, progressive pseudorheumatoid, of childhood
- OMIM:301835 Arts syndrome
- OMIM:615574 Asparagine synthetase deficiency
- ORPHA:93 Aspartylglucosaminuria
- OMIM:208400 Aspartylglucosaminuria
- OMIM:300497 Asperger syndrome susceptibility, X-linked 2
- OMIM:608638 Asperger syndrome, susceptibility to, 1
- OMIM:608631 Asperger syndrome, susceptibility to, 2
- OMIM:300494 Asperger syndrome, X-linked, susceptibility to, 1
- ORPHA:1163 Aspergillosis
- OMIM:613091 Asphyxiating thoracic dystrophy 3
- OMIM:108450 Asymmetric short stature syndrome
- OMIM:108700 Ataxia with fasciculations
- OMIM:277460 Ataxia with isolated vitamin E deficiency
- OMIM:208700 Ataxia with myoclonic epilepsy and presenile dementia
- ORPHA:96 Ataxia with vitamin E deficiency
- OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
- OMIM:208750 Ataxia, deafness, and cardiomyopathy
- OMIM:208920 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- OMIM:619352 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
- OMIM:609033 Ataxia, posterior column, with retinitis pigmentosa
- OMIM:608984 Ataxia, sensory, autosomal dominant
- OMIM:270500 Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
- ORPHA:1188 Ataxia-deafness-intellectual disability syndrome
- OMIM:208850 Ataxia-Deafness-Retardation syndrome
- ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome
- ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- OMIM:208870 Ataxia-Microcephaly-Cataract syndrome
- OMIM:615217 Ataxia-Oculomotor apraxia 3
- OMIM:616267 Ataxia-Oculomotor apraxia 4
- ORPHA:1168 Ataxia-oculomotor apraxia type 1
- ORPHA:459033 Ataxia-oculomotor apraxia type 4
- OMIM:159550 Ataxia-Pancytopenia syndrome
- ORPHA:2585 Ataxia-pancytopenia syndrome
- ORPHA:1184 Ataxia-photosensitivity-short stature syndrome
- ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- ORPHA:251347 Ataxia-telangiectasia-like disorder
- OMIM:604391 Ataxia-telangiectasia-like disorder 1
- OMIM:615919 Ataxia-Telangiectasia-Like disorder 2
- ORPHA:56305 Atelosteogenesis type III
- OMIM:108720 Atelosteogenesis, type I
- OMIM:601536 Athabaskan brainstem dysgenesis syndrome
- OMIM:209010 Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease
- ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- ORPHA:95713 Athyreosis
- OMIM:300431 Atkin-Flaitz syndrome
- ORPHA:1193 Atkin-Flaitz syndrome
- OMIM:209100 Atonic-Astatic syndrome of foerster
- ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis
- OMIM:614022 Atrial fibrillation, familial, 10
- ORPHA:99104 Atrial septal defect, coronary sinus type
- ORPHA:99103 Atrial septal defect, ostium secundum type
- ORPHA:99105 Atrial septal defect, sinus venosus type
- ORPHA:1344 Atrial standstill
- OMIM:615745 Atrial standstill 2
- ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- OMIM:600123 Atrioventricular septal defect with blepharophimosis and anal andradial defects
- ORPHA:79100 Atrophoderma vermiculata
- OMIM:143465 Attention deficit-hyperactivity disorder
- OMIM:619957 Attention deficit-hyperactivity disorder 8
- OMIM:613003 Attention deficit-hyperactivity disorder, susceptibility to, 7
- ORPHA:352723 Attenuated Chédiak-Higashi syndrome
- ORPHA:220460 Attenuated familial adenomatous polyposis
- ORPHA:85451 ATTRV122I amyloidosis
- ORPHA:85447 ATTRV30M amyloidosis
- ORPHA:391411 Atypical juvenile parkinsonism
- ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration
- ORPHA:99750 Atypical progressive supranuclear palsy syndrome
- ORPHA:3095 Atypical Rett syndrome
- ORPHA:99966 Atypical teratoid rhabdoid tumor
- ORPHA:79474 Atypical Werner syndrome
- OMIM:616580 Au-Kline syndrome
- OMIM:609129 Auditory neuropathy, autosomal dominant, 1
- OMIM:607842 Aural atresia, congenital
- OMIM:209770 Aural atresia, multiple congenital anomalies, and mental retardation
- OMIM:109050 Auralcephalosyndactyly
- ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- ORPHA:137888 Auriculocondylar syndrome
- OMIM:602483 Auriculocondylar syndrome 1
- OMIM:614669 Auriculocondylar syndrome 2
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- OMIM:209850 Autism susceptibility 1
- OMIM:300425 Autism susceptibility, X-linked 1
- OMIM:300496 Autism susceptibility, X-linked 3
- OMIM:618830 Autism, susceptibility to, 20
- OMIM:608049 Autism, susceptibility to, 3
- OMIM:607373 Autism, susceptibility to, 8
- OMIM:300495 Autism, susceptibility to, X-linked 2
- OMIM:300830 Autism, susceptibility to, X-linked 4
- OMIM:300872 Autism, susceptibility to, X-linked 6
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:98375 Autoimmune hemolytic anemia
- ORPHA:90033 Autoimmune hemolytic anemia, warm type
- ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- ORPHA:2137 Autoimmune hepatitis
- ORPHA:36913 Autoimmune hypoparathyroidism
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:269200 Autoimmune polyendocrine syndrome, type II
- ORPHA:3453 Autoimmune polyendocrinopathy type 1
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:616050 Autoinflammation with infantile enterocolitis
- OMIM:301081 Autoinflammatory disease, systemic, X-linked
- OMIM:616744 Autoinflammatory syndrome, familial, Behcet-like
- OMIM:619858 Autoinflammatory-pancytopenia syndrome
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:99 Autosomal dominant cerebellar ataxia
- ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E
- ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F
- ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K
- ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W
- ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia
- ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:101046 Autosomal dominant epilepsy with auditory features
- ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type
- 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:428 Autosomal dominant hypocalcemia
- ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome
- ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A
- ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy
- ORPHA:67036 Autosomal dominant optic atrophy and cataract
- ORPHA:1215 Autosomal dominant optic atrophy plus syndrome
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia
- ORPHA:730 Autosomal dominant polycystic kidney disease
- ORPHA:1300 Autosomal dominant popliteal pterygium syndrome
- ORPHA:2514 Autosomal dominant primary microcephaly
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:3107 Autosomal dominant Robinow syndrome
- ORPHA:251282 Autosomal dominant spastic ataxia type 1
- ORPHA:100991 Autosomal dominant spastic paraplegia type 10
- ORPHA:100993 Autosomal dominant spastic paraplegia type 12
- ORPHA:100994 Autosomal dominant spastic paraplegia type 13
- ORPHA:100998 Autosomal dominant spastic paraplegia type 17
- ORPHA:100999 Autosomal dominant spastic paraplegia type 19
- ORPHA:101009 Autosomal dominant spastic paraplegia type 29
- ORPHA:100984 Autosomal dominant spastic paraplegia type 3
- ORPHA:101011 Autosomal dominant spastic paraplegia type 31
- ORPHA:320365 Autosomal dominant spastic paraplegia type 36
- ORPHA:171612 Autosomal dominant spastic paraplegia type 37
- ORPHA:171617 Autosomal dominant spastic paraplegia type 38
- ORPHA:100985 Autosomal dominant spastic paraplegia type 4
- ORPHA:320355 Autosomal dominant spastic paraplegia type 41
- ORPHA:171863 Autosomal dominant spastic paraplegia type 42
- ORPHA:100988 Autosomal dominant spastic paraplegia type 6
- ORPHA:444099 Autosomal dominant spastic paraplegia type 73
- ORPHA:100989 Autosomal dominant spastic paraplegia type 8
- ORPHA:447753 Autosomal dominant spastic paraplegia type 9A
- ORPHA:447757 Autosomal dominant spastic paraplegia type 9B
- ORPHA:1797 Autosomal dominant spondylocostal dysostosis
- ORPHA:228169 Autosomal dominant striatal neurodegeneration
- ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency
- ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency
- ORPHA:88644 Autosomal recessive ataxia, Beauce type
- ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia
- ORPHA:169186 Autosomal recessive centronuclear myopathy
- ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity
- ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
- ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome
- ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3
- OMIM:600142 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
- ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome
- ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
- 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:101150 Autosomal recessive dopa-responsive dystonia
- ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy
- ORPHA:329329 Autosomal recessive frontotemporal pachygyria
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- ORPHA: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:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:1507 Autosomal recessive Robinow syndrome
- ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy
- ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- ORPHA:2822 Autosomal recessive spastic paraplegia type 11
- ORPHA:100995 Autosomal recessive spastic paraplegia type 14
- ORPHA:100996 Autosomal recessive spastic paraplegia type 15
- ORPHA:209951 Autosomal recessive spastic paraplegia type 18
- ORPHA:101000 Autosomal recessive spastic paraplegia type 20
- ORPHA:101001 Autosomal recessive spastic paraplegia type 21
- ORPHA:101003 Autosomal recessive spastic paraplegia type 23
- ORPHA:101004 Autosomal recessive spastic paraplegia type 24
- ORPHA:101005 Autosomal recessive spastic paraplegia type 25
- ORPHA:101006 Autosomal recessive spastic paraplegia type 26
- ORPHA:101007 Autosomal recessive spastic paraplegia type 27
- ORPHA:101008 Autosomal recessive spastic paraplegia type 28
- ORPHA:171622 Autosomal recessive spastic paraplegia type 32
- ORPHA:171629 Autosomal recessive spastic paraplegia type 35
- ORPHA:139480 Autosomal recessive spastic paraplegia type 39
- ORPHA:320370 Autosomal recessive spastic paraplegia type 43
- ORPHA:320401 Autosomal recessive spastic paraplegia type 44
- ORPHA:320396 Autosomal recessive spastic paraplegia type 45
- ORPHA:320391 Autosomal recessive spastic paraplegia type 46
- ORPHA:306511 Autosomal recessive spastic paraplegia type 48
- ORPHA:319199 Autosomal recessive spastic paraplegia type 53
- ORPHA:320380 Autosomal recessive spastic paraplegia type 54
- ORPHA:320375 Autosomal recessive spastic paraplegia type 55
- ORPHA:320411 Autosomal recessive spastic paraplegia type 56
- ORPHA:431329 Autosomal recessive spastic paraplegia type 57
- ORPHA:401795 Autosomal recessive spastic paraplegia type 59
- ORPHA:100986 Autosomal recessive spastic paraplegia type 5A
- ORPHA:401800 Autosomal recessive spastic paraplegia type 60
- ORPHA:401780 Autosomal recessive spastic paraplegia type 61
- ORPHA:401785 Autosomal recessive spastic paraplegia type 62
- ORPHA:401805 Autosomal recessive spastic paraplegia type 63
- ORPHA:401810 Autosomal recessive spastic paraplegia type 64
- ORPHA:401815 Autosomal recessive spastic paraplegia type 66
- ORPHA:401820 Autosomal recessive spastic paraplegia type 67
- ORPHA:401830 Autosomal recessive spastic paraplegia type 69
- ORPHA:401835 Autosomal recessive spastic paraplegia type 70
- ORPHA:401840 Autosomal recessive spastic paraplegia type 71
- ORPHA:468661 Autosomal recessive spastic paraplegia type 74
- ORPHA:459056 Autosomal recessive spastic paraplegia type 75
- ORPHA:488594 Autosomal recessive spastic paraplegia type 76
- ORPHA:466722 Autosomal recessive spastic paraplegia type 77
- ORPHA:513436 Autosomal recessive spastic paraplegia type 78
- ORPHA:447760 Autosomal recessive spastic paraplegia type 9B
- ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:101010 Autosomal spastic paraplegia type 30
- ORPHA:397946 Autosomal spastic paraplegia type 58
- ORPHA:401849 Autosomal spastic paraplegia type 72
- ORPHA:454836 Avian influenza
- OMIM:109120 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
- OMIM:180500 Axenfeld-Rieger syndrome, type 1
- OMIM:601499 Axenfeld-rieger syndrome, type 2
- OMIM:602482 Axenfeld-Rieger syndrome, type 3
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- ORPHA:168549 Axial spondylometaphyseal dysplasia
- ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
- 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:108 Babesiosis
- ORPHA:36234 Bacterial toxic-shock syndrome
- ORPHA:352577 Bainbridge-Ropers syndrome
- OMIM:615485 Bainbridge-Ropers syndrome
- OMIM:618218 Baker-Gordon syndrome
- OMIM:218600 Baller-Gerold syndrome
- ORPHA:1226 Bamforth-Lazarus syndrome
- OMIM:600348 Band heterotopia
- 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
- OMIM:209885 Barber-Say syndrome
- ORPHA:110 Bardet-Biedl syndrome
- OMIM:209900 Bardet-Biedl syndrome 1
- OMIM:615987 Bardet-Biedl syndrome 10
- 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:1234 Bartsocas-Papas 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:109400 Basal cell nevus syndrome
- OMIM:213600 Basal ganglia calcification, idiopathic, 1
- OMIM:615007 Basal ganglia calcification, idiopathic, 4
- OMIM:615483 Basal ganglia calcification, idiopathic, 5
- OMIM:616413 Basal ganglia calcification, idiopathic, 6
- OMIM:618317 Basal ganglia calcification, idiopathic, 7, autosomal recessive
- OMIM:618824 Basal ganglia calcification, idiopathic, 8, autosomal recessive
- OMIM:114100 Basal ganglia calcification, idiopathic, childhood-onset
- OMIM:616449 Basel-Vanagaite-Smirin-Yosef syndrome
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- OMIM:109500 Basilar impression, primary
- OMIM:301032 Basilicata-Akhtar syndrome
- ORPHA:100976 Bathing suit ichthyosis
- OMIM:123790 Beare-Stevenson cutis gyrata syndrome
- OMIM:613680 Beaulieu-Boycott-Innes syndrome
- OMIM:618798 Beck-Fahrner syndrome
- ORPHA:98895 Becker muscular dystrophy
- ORPHA:64755 Becker nevus syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- OMIM:209970 Beemer lethal malformation syndrome
- ORPHA:1237 Beemer-Ertbruggen syndrome
- ORPHA:275864 Behavioral variant of frontotemporal dementia
- ORPHA:117 Behçet disease
- OMIM:109650 Behcet syndrome
- OMIM:210000 Behr syndrome
- ORPHA:306 Benign familial infantile epilepsy
- ORPHA:1949 Benign familial neonatal epilepsy
- ORPHA:1429 Benign hereditary chorea
- ORPHA:25968 Benign occipital epilepsy
- ORPHA:1179 Benign paroxysmal tonic upgaze of childhood with ataxia
- ORPHA:71518 Benign paroxysmal torticollis of infancy
- ORPHA:324581 Benign Samaritan congenital myopathy
- ORPHA:252164 Benign schwannoma
- ORPHA:274 Bernard-Soulier syndrome
- OMIM:210050 Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
- ORPHA:134 Beta-ketothiolase deficiency
- ORPHA:118 Beta-mannosidosis
- ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria
- ORPHA:329284 Beta-propeller protein-associated neurodegeneration
- ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- ORPHA:848 Beta-thalassemia
- ORPHA:231222 Beta-thalassemia intermedia
- ORPHA:231214 Beta-thalassemia major
- OMIM:613161 Beta-ureidopropionase deficiency
- ORPHA:610 Bethlem myopathy
- OMIM:158810 Bethlem myopathy 1
- OMIM:616471 Bethlem myopathy 2
- ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- ORPHA:79138 Bickerstaff brainstem encephalitis
- OMIM:210350 Biemond syndrome II
- ORPHA:141333 Biemond syndrome type 2
- OMIM:608980 Bifid nose with or without anorectal and renal anomalies
- ORPHA:99771 Bifid uvula
- ORPHA:69736 Bilateral acute depigmentation of the iris
- ORPHA:208444 Bilateral frontal polymicrogyria
- ORPHA:101070 Bilateral frontoparietal polymicrogyria
- ORPHA:208447 Bilateral generalized polymicrogyria
- ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria
- ORPHA:98889 Bilateral perisylvian polymicrogyria
- ORPHA:268940 Bilateral polymicrogyria
- ORPHA:1980 Bilateral striopallidodentate calcinosis
- OMIM:617308 Bile acid synthesis defect, congenital, 6
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:79241 Biotinidase deficiency
- OMIM:253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset
- ORPHA:179 Birdshot chorioretinopathy
- OMIM:612292 Birk-Barel mental retardation dysmorphism syndrome
- OMIM:617595 Birk-Landau-Perez syndrome
- OMIM:262000 Bjornstad syndrome
- ORPHA:123 Björnstad syndrome
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:191800 Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
- ORPHA:90340 Blau syndrome
- OMIM:186580 Blau syndrome
- OMIM:119580 Blepharocheilodontic syndrome 1
- OMIM:110050 Blepharonasofacial malformation syndrome
- ORPHA:1252 Blepharonasofacial malformation syndrome
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:210745 Blepharophimosis with ptosis, syndactyly, and short stature
- OMIM:110100 Blepharophimosis, epicanthus inversus, and ptosis
- OMIM:619293 Blepharophimosis-impaired intellectual development syndrome
- ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type
- ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- OMIM:606798 Blepharospasm, benign essential, susceptibility to
- OMIM:210900 Bloom syndrome
- OMIM:303700 Blue cone monochromacy
- ORPHA:16 Blue cone monochromatism
- ORPHA:94086 Blue diaper syndrome
- OMIM:112200 Blue rubber bleb nevus
- OMIM:617885 Body mass index quantitative trait locus 19
- OMIM:618406 Body mass index quantitative trait locus 20
- ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness
- OMIM:615715 Bone marrow failure syndrome 2
- 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
- ORPHA:107 BOR syndrome
- OMIM:600257 Bor-Duane hydrocephalus contiguous gene syndrome
- OMIM:301900 Borjeson-Forssman-Lehmann syndrome
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:300843 Bornholm eye disease
- OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome
- OMIM:603457 Bosma arhinia microphthalmia syndrome
- ORPHA:1267 Botulism
- OMIM:215470 Boucher-Neuhauser syndrome
- OMIM:619543 Boudin-Mortier syndrome
- ORPHA:83313 Boutonneuse fever
- OMIM:211180 Bowen-Conradi syndrome
- ORPHA:1270 Bowen-Conradi syndrome
- OMIM:601357 Brachial amelia, cleft lip, and holoprosencephaly
- 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:610023 Brachydactyly, coloboma, and anterior segment dysgenesis
- OMIM:616849 Brachydactyly, type A1, D
- OMIM:613627 Brachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation
- OMIM:211369 Brachydactyly, type A2, with microcephaly
- ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- OMIM:113400 Brachydactyly-Nystagmus-Cerebellar ataxia
- ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome
- OMIM:113477 Brachymorphism-Onychodysplasia-Dysphalangism syndrome
- ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome
- OMIM:271530 Brachyolmia type 1, Hobaek type
- OMIM:271630 Brachyolmia type 1, Toledo type
- OMIM:113500 Brachyolmia type 3
- ORPHA:93302 Brachyolmia, Maroteaux type
- OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome
- OMIM:619980 Braddock-Carey syndrome 1
- OMIM:619981 Braddock-Carey syndrome 2
- ORPHA:75374 Bradyopsia
- OMIM:618476 Brain abnormalities, neurodegeneration, and dysosteosclerosis
- ORPHA:352649 Brain dopamine-serotonin vesicular transport disease
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- OMIM:613735 Brain malformations with or without urinary tract defects
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- OMIM:175780 Brain small vessel disease 1 with or without ocular anomalies
- OMIM:614483 Brain small vessel disease 2
- OMIM:618360 Brain small vessel disease 3
- ORPHA:209905 Brain-lung-thyroid syndrome
- OMIM:614923 Branched-Chain ketoacid dehydrogenase kinase deficiency
- OMIM:301950 Branchial arch syndrome, X-linked
- OMIM:113610 Branchial myoclonus with spastic paraparesis and cerebellar ataxia
- ORPHA:1297 Branchio-oculo-facial syndrome
- ORPHA:50815 Branchiogenic deafness syndrome
- OMIM:113620 Branchiooculofacial syndrome
- ORPHA:52429 Branchiootic syndrome
- OMIM:113650 Branchiootorenal syndrome 1
- ORPHA:1299 Branchioskeletogenital syndrome
- OMIM:607578 Breath-Holding spells
- ORPHA:85284 BRESEK syndrome
- ORPHA:90354 Brittle cornea syndrome
- OMIM:614170 Brittle cornea syndrome 2
- OMIM:601003 Brody myopathy
- ORPHA:97287 Bronchial neuroendocrine tumor
- ORPHA:2357 Bronchogenic cyst
- ORPHA:70589 Bronchopulmonary dysplasia
- ORPHA:79493 Brooke-Spiegler syndrome
- OMIM:211530 Brown-Vialetto-Van laere syndrome 1
- OMIM:614707 Brown-Vialetto-Van laere syndrome 2
- ORPHA:1304 Brucellosis
- OMIM:619690 Brunet-Wagner neurodevelopmental syndrome
- OMIM:300615 Brunner syndrome
- OMIM:619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1
- OMIM:619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2
- ORPHA:36258 Buerger disease
- OMIM:211500 Bulbar palsy, progressive, of childhood
- OMIM:607499 Bulimia nervosa, susceptibility to, 1
- OMIM:302000 Bullous dystrophy, hereditary Macular type
- OMIM:619314 Buratti-Harel syndrome
- ORPHA:353253 Burning mouth syndrome
- ORPHA:132 Butyrylcholinesterase deficiency
Code pathologie
Nom de la pathologie
- ORPHA:1308 C syndrome
- OMIM:211750 C syndrome
- ORPHA:135 CACH syndrome
- OMIM:114030 Cafe-Au-Lait spots, multiple
- ORPHA:1310 Caffey disease
- OMIM:211770 Cahmr syndrome
- ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1
- OMIM:126550 Calvarial doughnut lesions with bone fragility
- OMIM:302030 Calvarial hyperostosis
- ORPHA:83472 CAMOS syndrome
- OMIM:114290 Campomelic dysplasia
- ORPHA:140 Campomelic dysplasia
- ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1
- ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2
- ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3
- OMIM:211910 Camptodactyly syndrome, guadalajara, type I
- OMIM:611929 Camptodactyly syndrome, Guadalajara, type III
- OMIM:211960 Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases
- OMIM:610474 Camptodactyly, tall stature, and hearing loss syndrome
- OMIM:131300 Camurati-Engelmann disease
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:606631 Camurati-engelmann disease, type 2
- OMIM:271900 Canavan disease
- ORPHA:141 Canavan disease
- ORPHA:71505 Cancer-associated retinopathy
- OMIM:212050 Candidiasis, familial chronic mucocutaneous, autosomal recessive
- ORPHA:1517 Cantú syndrome
- ORPHA:171881 Cap myopathy
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- OMIM:618196 Capillary malformation-arteriovenous malformation 2
- ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome
- OMIM:237300 Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to
- ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency
- ORPHA:100093 Carcinoid syndrome
- OMIM:114900 Carcinoid tumors, intestinal
- ORPHA:70482 Carcinoma of esophagus
- OMIM:212080 Cardiac lipidosis, familial
- OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay
- OMIM:618280 Cardiac-Urogenital syndrome
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- ORPHA:2872 Cardiocranial syndrome, Pfeiffer type
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:615278 Cardiofaciocutaneous syndrome 2
- OMIM:615279 Cardiofaciocutaneous syndrome 3
- OMIM:615280 Cardiofaciocutaneous syndrome 4
- OMIM:619123 Cardiofacioneurodevelopmental syndrome
- ORPHA:97292 Cardiogenic shock
- OMIM:601154 Cardiomyopathy, dilated, 1E
- OMIM:613697 Cardiomyopathy, dilated, 1V
- OMIM:619897 Cardiomyopathy, dilated, 2G
- OMIM:618052 Cardiomyopathy, familial hypertrophic 27
- OMIM:617047 Cardiomyopathy, familial hypertrophic, 26
- OMIM:619402 Cardiomyopathy, familial hypertrophic, 28
- OMIM:115197 Cardiomyopathy, familial hypertrophic, 4
- OMIM:115210 Cardiomyopathy, familial restrictive, 1
- OMIM:606842 Cardioneuromyopathy with hyaline masses and nemaline rods
- ORPHA:1358 Carey-Fineman-Ziter syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- ORPHA:97355 Caribbean parkinsonism
- ORPHA:1359 Carney complex
- OMIM:160980 Carney complex, type 1
- ORPHA:139411 Carney triad
- OMIM:606864 Carney-Stratakis syndrome
- ORPHA:97286 Carney-Stratakis syndrome
- OMIM:212140 Carnitine deficiency, systemic primary
- ORPHA:156 Carnitine palmitoyl transferase 1A deficiency
- ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form
- ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form
- OMIM:255120 Carnitine palmitoyltransferase I deficiency
- ORPHA:157 Carnitine palmitoyltransferase II deficiency
- OMIM:600649 Carnitine palmitoyltransferase II deficiency, infantile
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- OMIM:212138 Carnitine-acylcarnitine translocase deficiency
- ORPHA:159 Carnitine-acylcarnitine translocase deficiency
- ORPHA:1361 Carnosinase deficiency
- OMIM:212200 CARNOSINEMIA
- OMIM:115430 Carpal tunnel syndrome
- OMIM:619161 Carpal tunnel syndrome 2
- ORPHA:65759 Carpenter syndrome
- OMIM:201000 Carpenter syndrome 1
- OMIM:614976 Carpenter syndrome 2
- OMIM:250250 Cartilage-hair hypoplasia
- ORPHA:175 Cartilage-hair hypoplasia
- OMIM:115470 Cat eye syndrome
- ORPHA:195 Cat-eye syndrome
- OMIM:610623 Cataract 11, multiple types
- OMIM:604307 Cataract 2, multiple types
- OMIM:300619 Cataract, ataxia, short stature, and mental retardation
- OMIM:607674 Cataract, congenital, with mental impairment and dentate gyrus atrophy
- OMIM:212540 Cataract, microcephaly, failure to thrive, kyphoscoliosis 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:1375 Cataract-hypertrichosis-intellectual disability syndrome
- ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects 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:619338 Cataracts, spastic paraparesis, and speech delay
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- OMIM:616145 Catel-Manzke syndrome
- ORPHA:1388 Catel-Manzke syndrome
- OMIM:618761 Catifa syndrome
- ORPHA:1123 Caudal appendage-deafness syndrome
- ORPHA:1756 Caudal duplication
- ORPHA:3027 Caudal regression syndrome
- OMIM:603116 CDAGS syndrome
- ORPHA:505652 CDKL5-deficiency disorder
- OMIM:618774 CEBALID syndrome
- ORPHA:66631 CEDNIK syndrome
- OMIM:212750 Celiac disease, susceptibility to, 1
- OMIM:212780 Cenani-Lenz syndactyly syndrome
- OMIM:117000 Central core disease
- ORPHA:597 Central core disease
- ORPHA:178029 Central diabetes insipidus
- OMIM:619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- ORPHA:73256 Central neurocytoma
- ORPHA:759 Central precocious puberty
- OMIM:117100 Centralopathic epilepsy
- OMIM:212800 Cephalin lipidosis
- OMIM:212835 Cerebellar ataxia and ectodermal dysplasia
- OMIM:212840 Cerebellar ataxia and hypogonadotropic hypogonadism
- OMIM:212850 Cerebellar ataxia and neurosensory deafness
- OMIM:601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
- OMIM:212890 Cerebellar ataxia, benign, with thermoanalgesia
- OMIM:619576 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
- ORPHA:94122 Cerebellar ataxia, Cayman type
- OMIM:601238 Cerebellar ataxia, Cayman type
- OMIM:604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
- OMIM:224050 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
- OMIM:610185 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2
- OMIM:613227 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3
- OMIM:615268 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4
- ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome
- ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome
- OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay
- OMIM:617643 Cerebellar atrophy, developmental delay, and seizures
- OMIM:616875 Cerebellar atrophy, visual impairment, and psychomotor retardation
- OMIM:602197 Cerebellar degeneration-related autoantigen 3
- OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- OMIM:619761 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
- OMIM:213000 Cerebellar hypoplasia
- ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- OMIM:213010 Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome
- OMIM:618479 Cerebellar, ocular, craniofacial, and genital syndrome
- ORPHA:444072 Cerebellar-facial-dental syndrome
- OMIM:616202 Cerebellofaciodental syndrome
- OMIM:605714 Cerebral amyloid angiopathy, APP-related
- OMIM:176500 Cerebral amyloid angiopathy, itm2b-related, 1
- OMIM:213500 Cerebral angiopathy, dysphoric
- OMIM:616779 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
- OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy
- ORPHA:46724 Cerebral arteriovenous malformation
- ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
- OMIM:116860 Cerebral cavernous malformations 1
- OMIM:603284 Cerebral cavernous malformations 2
- OMIM:603285 Cerebral cavernous malformations 3
- OMIM:619538 Cerebral cavernous malformations 4
- OMIM:300352 Cerebral creatine deficiency syndrome 1
- OMIM:612736 Cerebral creatine deficiency syndrome 2
- OMIM:612718 Cerebral creatine deficiency syndrome 3
- OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- OMIM:605388 Cerebral palsy, ataxic, autosomal recessive
- OMIM:612900 Cerebral palsy, spastic quadriplegic, 2
- OMIM:617008 Cerebral palsy, spastic quadriplegic, 3
- OMIM:213900 Cerebral sclerosis similar to pelizaeus-merzbacher disease
- OMIM:302700 Cerebral sclerosis, diffuse, Scholz type
- ORPHA:447788 Cerebral visual impairment
- OMIM:300864 Cerebral-Cerebellar-Coloboma syndrome, X-linked
- 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
- ORPHA:66625 Cerebrooculonasal syndrome
- OMIM:612199 Cerebroretinal microangiopathy with calcifications and cysts
- OMIM:617341 Cerebroretinal microangiopathy with calcifications and cysts 2
- OMIM:213700 Cerebrotendinous xanthomatosis
- ORPHA:909 Cerebrotendinous xanthomatosis
- ORPHA:169079 Cernunnos-XLF deficiency
- OMIM:256730 Ceroid lipofuscinosis, neuronal, 1
- OMIM:610127 Ceroid lipofuscinosis, neuronal, 10
- OMIM:614706 Ceroid lipofuscinosis, neuronal, 11
- OMIM:615362 Ceroid lipofuscinosis, neuronal, 13
- OMIM:204500 Ceroid lipofuscinosis, neuronal, 2
- OMIM:204200 Ceroid lipofuscinosis, neuronal, 3
- OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant
- OMIM:256731 Ceroid lipofuscinosis, neuronal, 5
- OMIM:601780 Ceroid lipofuscinosis, neuronal, 6
- OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
- OMIM:610951 Ceroid lipofuscinosis, neuronal, 7
- OMIM:600143 Ceroid lipofuscinosis, neuronal, 8
- OMIM:610003 Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
- OMIM:609055 Ceroid lipofuscinosis, neuronal, 9
- ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome
- OMIM:117900 Cervical rib
- OMIM:275630 Chanarin-Dorfman syndrome
- ORPHA:1401 CHAND syndrome
- OMIM:169100 Char syndrome
- ORPHA:46627 Char syndrome
- OMIM:118300 Charcot-Marie-Tooth disease and deafness
- ORPHA:101081 Charcot-Marie-Tooth disease type 1A
- ORPHA:101082 Charcot-Marie-Tooth disease type 1B
- ORPHA:90658 Charcot-Marie-Tooth disease type 1E
- ORPHA:101085 Charcot-Marie-Tooth disease type 1F
- ORPHA:98856 Charcot-Marie-Tooth disease type 2B1
- ORPHA:99948 Charcot-Marie-Tooth disease type 4A
- ORPHA:99956 Charcot-Marie-Tooth disease type 4B2
- ORPHA:99949 Charcot-Marie-Tooth disease type 4C
- ORPHA:99950 Charcot-Marie-Tooth disease type 4D
- ORPHA:99953 Charcot-Marie-Tooth disease type 4G
- OMIM:118301 Charcot-Marie-Tooth disease with ptosis and parkinsonism
- OMIM:617087 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
- OMIM:118210 Charcot-Marie-Tooth disease, axonal, type 2A1
- OMIM:609260 Charcot-marie-tooth disease, axonal, type 2A2A
- OMIM:600882 Charcot-Marie-Tooth disease, axonal, type 2B
- OMIM:605588 Charcot-Marie-Tooth disease, axonal, type 2B1
- OMIM:605589 Charcot-Marie-Tooth disease, axonal, type 2B2
- OMIM:616924 Charcot-Marie-Tooth disease, axonal, type 2CC
- OMIM:601472 Charcot-Marie-Tooth disease, axonal, type 2D
- OMIM:618036 Charcot-Marie-Tooth disease, axonal, type 2DD
- OMIM:607684 Charcot-Marie-Tooth disease, axonal, type 2E
- OMIM:618400 Charcot-Marie-Tooth disease, axonal, type 2EE
- OMIM:606595 Charcot-Marie-Tooth disease, axonal, type 2F
- OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF
- OMIM:607731 Charcot-Marie-Tooth disease, axonal, type 2H
- OMIM:619574 Charcot-Marie-Tooth disease, axonal, type 2HH
- OMIM:607677 Charcot-Marie-Tooth disease, axonal, type 2I
- OMIM:620068 Charcot-Marie-Tooth disease, axonal, type 2II
- OMIM:607831 Charcot-Marie-Tooth disease, axonal, type 2K
- OMIM:608673 Charcot-Marie-Tooth disease, axonal, type 2L
- OMIM:613287 Charcot-Marie-Tooth disease, axonal, type 2N
- OMIM:614228 Charcot-marie-tooth disease, axonal, type 2O
- OMIM:614436 Charcot-Marie-Tooth disease, axonal, type 2P
- OMIM:615025 Charcot-Marie-Tooth disease, axonal, type 2Q
- OMIM:615490 Charcot-Marie-Tooth disease, axonal, type 2R
- OMIM:616155 Charcot-Marie-Tooth disease, axonal, type 2S
- OMIM:617017 Charcot-Marie-Tooth disease, axonal, type 2T
- OMIM:616280 Charcot-Marie-Tooth disease, axonal, type 2U
- OMIM:616491 Charcot-Marie-Tooth disease, axonal, type 2V
- OMIM:616625 Charcot-Marie-Tooth disease, axonal, type 2W
- OMIM:616668 Charcot-Marie-Tooth disease, axonal, type 2X
- OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y
- OMIM:616688 Charcot-Marie-Tooth disease, axonal, type 2Z
- OMIM:607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive
- OMIM:118220 Charcot-Marie-Tooth disease, demyelinating, type 1A
- OMIM:601098 Charcot-Marie-Tooth disease, demyelinating, type 1C
- OMIM:607678 Charcot-Marie-Tooth disease, demyelinating, type 1D
- OMIM:607734 Charcot-Marie-Tooth disease, demyelinating, type 1F
- OMIM:618279 Charcot-Marie-Tooth disease, demyelinating, type 1G
- OMIM:619764 Charcot-Marie-Tooth disease, demyelinating, type 1H
- OMIM:619742 Charcot-Marie-Tooth disease, demyelinating, type 1I
- OMIM:614895 Charcot-Marie-Tooth disease, demyelinating, type 4F
- OMIM:606483 Charcot-Marie-Tooth disease, dominant intermediate A
- OMIM:606482 Charcot-Marie-Tooth disease, dominant intermediate B
- OMIM:608323 Charcot-Marie-Tooth disease, dominant intermediate C
- OMIM:607791 Charcot-Marie-Tooth disease, dominant intermediate D
- OMIM:614455 Charcot-Marie-Tooth disease, dominant intermediate E
- OMIM:615185 Charcot-Marie-Tooth disease, dominant intermediate F
- OMIM:617882 Charcot-Marie-Tooth disease, dominant intermediate G
- OMIM:608340 Charcot-Marie-Tooth disease, recessive intermediate A
- OMIM:613641 Charcot-marie-tooth disease, recessive intermediate B
- OMIM:615376 Charcot-Marie-Tooth disease, recessive intermediate C
- OMIM:616039 Charcot-Marie-Tooth disease, recessive intermediate D
- OMIM:118200 Charcot-Marie-Tooth disease, type 1B
- OMIM:607736 Charcot-Marie-Tooth disease, type 2J
- OMIM:214400 Charcot-Marie-Tooth disease, type 4A
- OMIM:601382 Charcot-Marie-Tooth disease, type 4B1
- OMIM:604563 Charcot-Marie-Tooth disease, type 4B2
- OMIM:615284 Charcot-Marie-Tooth disease, type 4B3
- OMIM:601596 Charcot-Marie-Tooth disease, type 4C
- OMIM:601455 Charcot-Marie-Tooth disease, type 4D
- OMIM:609311 Charcot-marie-tooth disease, type 4H
- OMIM:611228 Charcot-Marie-Tooth disease, type 4J
- OMIM:616684 Charcot-Marie-Tooth disease, type 4K
- OMIM:300905 Charcot-Marie-Tooth disease, X-linked dominant, 6
- OMIM:302801 Charcot-Marie-Tooth disease, X-linked recessive, 2
- OMIM:302802 Charcot-Marie-Tooth disease, X-linked recessive, 3
- OMIM:311070 Charcot-Marie-Tooth disease, X-linked recessive, 5
- ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- OMIM:302800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
- OMIM:302803 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- OMIM:214500 Chediak-Higashi syndrome
- ORPHA:167 Chédiak-Higashi syndrome
- OMIM:118350 Chemodectoma, intraabdominal, with cutaneous angiolipomas
- ORPHA:184 Cherubism
- OMIM:118420 Chiari malformation type I
- OMIM:207950 Chiari malformation type II
- ORPHA:324625 Chikungunya
- ORPHA:64280 Childhood absence epilepsy
- ORPHA:168782 Childhood disintegrative disorder
- ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
- ORPHA:494541 Childhood-onset benign chorea with striatal involvement
- ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- ORPHA:171439 Childhood-onset nemaline myopathy
- ORPHA:401866 Childhood-onset spasticity with hyperglycinemia
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:3474 CHIME syndrome
- OMIM:617180 Chitayat syndrome
- ORPHA:137914 Choanal atresia
- ORPHA:173 Cholera
- OMIM:214980 Cholestasis with gallstone, ataxia, and visual disturbance
- OMIM:302950 Chondrodysplasia punctata 1, X-linked recessive
- OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant
- OMIM:300863 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
- ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome
- ORPHA:319195 Chondroectodermal dysplasia with night blindness
- OMIM:619504 Chopra-Amiel-Gordon syndrome
- OMIM:616368 CHOPS syndrome
- OMIM:215400 Chordoma, susceptibility to
- OMIM:215450 Chorea, benign familial
- OMIM:118700 Chorea, benign hereditary
- OMIM:616939 Chorea, childhood-onset, with psychomotor retardation
- OMIM:601372 Chorea, remitting, with nystagmus and cataract
- ORPHA:2388 Choreoacanthocytosis
- OMIM:200150 CHOREOACANTHOCYTOSIS
- OMIM:118750 Choreoathetosis, familial inverted
- OMIM:610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
- OMIM:215480 Choroid plexus calcification and mental retardation
- OMIM:613105 Choroidal dystrophy, central areolar 2
- ORPHA:85278 Christianson syndrome
- OMIM:612242 Chromosome 10q22.3-q23.2 deletion syndrome
- OMIM:609625 Chromosome 10q26 deletion syndrome
- OMIM:616902 Chromosome 11P13 deletion syndrome, distal
- OMIM:613884 Chromosome 13q14 deletion syndrome
- OMIM:619148 Chromosome 13q33-q34 deletion syndrome
- OMIM:613457 Chromosome 14q11-q22 deletion syndrome
- OMIM:608636 Chromosome 15q11-q13 duplication syndrome
- OMIM:615656 Chromosome 15q11.2 deletion syndrome
- OMIM:612001 Chromosome 15q13.3 microdeletion syndrome
- OMIM:616898 Chromosome 15q14 deletion syndrome
- OMIM:614294 Chromosome 15q25 deletion syndrome
- OMIM:612626 Chromosome 15q26-qter deletion syndrome
- OMIM:611913 Chromosome 16p11.2 deletion syndrome, 593-kb
- OMIM:136570 Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included
- OMIM:613604 Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb
- OMIM:616863 Chromosome 16p13.2 deletion syndrome
- OMIM:610543 Chromosome 16p13.3 deletion syndrome
- OMIM:613458 Chromosome 16p13.3 duplication syndrome
- OMIM:619649 Chromosome 16q12 duplication syndrome
- OMIM:614541 Chromosome 16q22 deletion syndrome
- OMIM:613776 Chromosome 17p13.1 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:614526 Chromosome 17q12 duplication 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:618815 Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster
- 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:615538 Chromosome 22q13 duplication syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:600430 Chromosome 2q37 deletion syndrome
- OMIM:613792 Chromosome 3pter-p25 deletion syndrome
- OMIM:615433 Chromosome 3q13.31 deletion syndrome
- OMIM:609425 Chromosome 3q29 deletion syndrome
- OMIM:611936 Chromosome 3q29 duplication syndrome
- OMIM:613509 Chromosome 4q21 deletion syndrome
- OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome
- OMIM:613174 Chromosome 5p13 duplication syndrome
- OMIM:615668 Chromosome 5q12 deletion syndrome
- OMIM:612582 Chromosome 6pter-p24 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:158170 Chromosome 9P deletion syndrome
- OMIM:300801 Chromosome xp11.23-p11.22 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
- ORPHA:529808 Chronic bilirubin encephalopathy
- ORPHA:99921 Chronic graft versus host disease
- ORPHA:379 Chronic granulomatous disease
- ORPHA:396 Chronic hiccup
- ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy
- ORPHA:2978 Chronic intestinal pseudoobstruction
- ORPHA:1334 Chronic mucocutaneous candidiasis
- ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- ORPHA:70591 Chronic thromboembolic pulmonary hypertension
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- ORPHA:263463 CHST3-related skeletal dysplasia
- OMIM:604213 Chudley-Mccullough syndrome
- OMIM:246700 Chylomicron retention disease
- ORPHA:71 Chylomicron retention disease
- OMIM:244400 Ciliary dyskinesia, primary, 1
- OMIM:618699 Ciliary dyskinesia, primary, 43
- OMIM:619466 Ciliary dyskinesia, primary, 47, and lissencephaly
- OMIM:619273 Cimdag syndrome
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- OMIM:215550 Circumvallate placenta syndrome
- OMIM:215600 Cirrhosis, familial
- ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- ORPHA:57777 Cirrhotic cardiomyopathy
- ORPHA:247525 Citrullinemia type I
- ORPHA:247585 Citrullinemia type II
- OMIM:215700 Citrullinemia, classic
- OMIM:603471 Citrullinemia, type II, adult-onset
- ORPHA:251383 CK syndrome
- OMIM:300831 Ck syndrome
- ORPHA:168984 CLAPO syndrome
- OMIM:300602 Clark-Baraitser syndrome
- ORPHA:79239 Classic galactosemia
- ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome
- 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
- ORPHA:240071 Classic progressive supranuclear palsy syndrome
- ORPHA:287 Classical Ehlers-Danlos syndrome
- ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome
- ORPHA:141291 Cleft lip and alveolus
- ORPHA:1991 Cleft lip with or without cleft palate
- ORPHA:199306 Cleft lip/palate
- OMIM:216100 Cleft lip/palate with abnormal thumbs and microcephaly
- ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome
- ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome
- OMIM:600460 Cleft palate, cardiac defect, genital anomalies, and ectrodactyly
- OMIM:600987 Cleft palate, cardiac defects, and mental retardation
- OMIM:119540 Cleft palate, isolated
- 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
- ORPHA:99772 Cleft velum
- OMIM:155145 Cleft, median, of upper lip with polyps of facial skin and nasal mucosa
- ORPHA:1452 Cleidocranial dysplasia
- OMIM:119600 Cleidocranial dysplasia
- ORPHA:228346 CLN3 disease
- ORPHA:228360 CLN5 disease
- ORPHA:93929 Cloacal exstrophy
- 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
- OMIM:119915 Cluster headache, familial
- ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy
- OMIM:216360 Coach syndrome 1
- OMIM:619111 Coach syndrome 2
- OMIM:619113 COACH syndrome 3
- ORPHA:397725 COASY protein-associated neurodegeneration
- ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement
- ORPHA:1911 Cocaine embryofetopathy
- ORPHA:90068 Cocaine intoxication
- ORPHA:228123 Coccidioidomycosis
- OMIM:120040 Cochleosaccular degeneration of the inner ear with progressive cataracts
- ORPHA:3233 Cochleosaccular degeneration-cataract syndrome
- ORPHA:191 Cockayne syndrome
- OMIM:216400 Cockayne syndrome A
- ORPHA:90321 Cockayne syndrome type 1
- ORPHA:90322 Cockayne syndrome type 2
- ORPHA:90324 Cockayne syndrome type 3
- OMIM:133540 Cockayne syndrome, type B
- ORPHA:1458 CODAS syndrome
- OMIM:600373 CODAS syndrome
- OMIM:607426 Coenzyme Q10 deficiency, primary, 1
- OMIM:614651 Coenzyme Q10 deficiency, primary, 2
- OMIM:614652 Coenzyme Q10 deficiency, primary, 3
- OMIM:612016 Coenzyme Q10 deficiency, primary, 4
- OMIM:614654 Coenzyme Q10 deficiency, primary, 5
- OMIM:614650 Coenzyme Q10 deficiency, primary, 6
- OMIM:616276 Coenzyme Q10 deficiency, primary, 7
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- OMIM:619028 Coenzyme Q10 deficiency, primary, 9
- ORPHA:192 Coffin-Lowry syndrome
- OMIM:303600 Coffin-Lowry syndrome
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:135900 Coffin-Siris syndrome 1
- OMIM:618506 Coffin-Siris syndrome 10
- OMIM:618779 Coffin-Siris syndrome 11
- 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:435934 COG2-CDG
- ORPHA:263501 COG4-CDG
- ORPHA:263487 COG5-CDG
- ORPHA:79333 COG7-CDG
- ORPHA:95428 COG8-CDG
- ORPHA:1467 Cogan syndrome
- OMIM:300082 Cognitive function 1, social
- OMIM:614306 Cognitive impairment with or without cerebellar ataxia
- 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:31824 Colchicine poisoning
- ORPHA:56425 Cold agglutinin disease
- OMIM:610313 Cold-Induced sweating syndrome 2
- ORPHA:2050 Cole-Carpenter syndrome
- OMIM:112240 Cole-Carpenter syndrome 1
- OMIM:616294 Cole-Carpenter syndrome 2
- OMIM:120200 Coloboma, ocular
- OMIM:120433 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
- OMIM:601794 Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome
- ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- OMIM:615182 Combined d-2- and l-2-hydroxyglutaric aciduria
- ORPHA:35909 Combined deficiency of factor V and factor VIII
- OMIM:617780 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction
- ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency
- ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies
- ORPHA:289504 Combined malonic and methylmalonic acidemia
- OMIM:614265 Combined malonic and methylmalonic aciduria
- ORPHA:319514 Combined oxidative phosphorylation defect type 13
- ORPHA:444013 Combined oxidative phosphorylation defect type 23
- ORPHA:477774 Combined oxidative phosphorylation defect type 27
- ORPHA:478029 Combined oxidative phosphorylation defect type 29
- 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:614922 Combined oxidative phosphorylation deficiency 11
- 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:615918 Combined oxidative phosphorylation deficiency 21
- OMIM:616045 Combined oxidative phosphorylation deficiency 22
- OMIM:616198 Combined oxidative phosphorylation deficiency 23
- OMIM:616239 Combined oxidative phosphorylation deficiency 24
- OMIM:616430 Combined oxidative phosphorylation deficiency 25
- OMIM:616672 Combined oxidative phosphorylation deficiency 27
- OMIM:616794 Combined oxidative phosphorylation deficiency 28
- OMIM:616811 Combined oxidative phosphorylation deficiency 29
- OMIM:610505 Combined oxidative phosphorylation deficiency 3
- OMIM:616974 Combined oxidative phosphorylation deficiency 30
- OMIM:617228 Combined oxidative phosphorylation deficiency 31
- OMIM:617664 Combined oxidative phosphorylation deficiency 32
- 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:618851 Combined oxidative phosphorylation deficiency 43
- OMIM:618855 Combined oxidative phosphorylation deficiency 44
- OMIM:618951 Combined oxidative phosphorylation deficiency 45
- OMIM:618958 Combined oxidative phosphorylation deficiency 47
- OMIM:619012 Combined oxidative phosphorylation deficiency 48
- OMIM:619024 Combined oxidative phosphorylation deficiency 49
- OMIM:611719 Combined oxidative phosphorylation deficiency 5
- OMIM:619025 Combined oxidative phosphorylation deficiency 50
- OMIM:619057 Combined oxidative phosphorylation deficiency 51
- OMIM:619386 Combined oxidative phosphorylation deficiency 52
- OMIM:619423 Combined oxidative phosphorylation deficiency 53
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:619743 Combined oxidative phosphorylation deficiency 55
- OMIM:300816 Combined oxidative phosphorylation deficiency 6
- 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
- OMIM:611721 Combined saposin deficiency
- OMIM:614379 Complement component 4B deficiency
- OMIM:613790 Complement component 8 deficiency, type I
- OMIM:613789 Complement component 8 deficiency, type II
- OMIM:615561 Complement factor B deficiency
- OMIM:610984 Complement factor I deficiency
- ORPHA:99429 Complete androgen insensitivity syndrome
- ORPHA:1329 Complete atrioventricular septal defect
- ORPHA:83452 Complex regional pain syndrome
- ORPHA:3216 Conductive deafness-malformed external ear syndrome
- OMIM:602093 Cone dystrophy 3
- OMIM:613093 Cone dystrophy 4
- ORPHA:1872 Cone rod dystrophy
- OMIM:600624 Cone-Rod dystrophy 1
- OMIM:610283 Cone-Rod dystrophy 10
- OMIM:610381 Cone-Rod dystrophy 11
- OMIM:608194 Cone-rod dystrophy 13
- OMIM:613660 Cone-rod dystrophy 15
- OMIM:614500 Cone-Rod dystrophy 16
- OMIM:615163 Cone-Rod dystrophy 17
- OMIM:616502 Cone-Rod dystrophy 21
- OMIM:619531 Cone-rod dystrophy 22
- OMIM:600977 Cone-Rod dystrophy 5
- OMIM:601777 Cone-Rod dystrophy 6
- OMIM:605549 Cone-Rod dystrophy 8
- OMIM:617236 Cone-rod dystrophy and hearing loss
- OMIM:618358 Cone-rod dystrophy and hearing loss 2
- OMIM:304020 Cone-rod dystrophy, X-linked, 1
- OMIM:300476 Cone-Rod dystrophy, X-linked, 3
- OMIM:618970 Cone-rod synaptic disorder syndrome, congenital nonprogressive
- OMIM:610427 Cone-Rod synaptic disorder, congenital nonprogressive
- ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- ORPHA:79 Congenital alpha2-antiplasmin deficiency
- ORPHA:210122 Congenital alveolar capillary dysplasia
- ORPHA:86816 Congenital analbuminemia
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- OMIM:611890 Congenital arthrogryposis with anterior horn cell disease
- ORPHA:79301 Congenital bile acid synthesis defect type 1
- ORPHA:79095 Congenital bile acid synthesis defect type 4
- ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- OMIM:604168 Congenital cataracts, facial dysmorphism, and neuropathy
- OMIM:614482 Congenital cataracts, hearing loss, and neurodegeneration
- ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome
- ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation
- OMIM:616266 Congenital contractures of the limbs and face, hypotonia, and developmental delay
- OMIM:615273 Congenital disorder of deglycosylation 1
- OMIM:619775 Congenital disorder of deglycosylation 2
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:618324 Congenital disorder of glycosylation with defective fucosylation 2
- OMIM:619493 Congenital disorder of glycosylation, type 2V
- OMIM:212067 Congenital disorder of glycosylation, type I/IIx
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:617082 Congenital disorder of glycosylation, type IAA
- OMIM:603147 Congenital disorder of glycosylation, type Ic
- OMIM:301031 Congenital disorder of glycosylation, type Icc
- 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:607906 Congenital disorder of glycosylation, type Ii
- OMIM:212066 Congenital disorder of glycosylation, type IIa
- OMIM:606056 Congenital disorder of glycosylation, type IIB
- OMIM:266265 Congenital disorder of glycosylation, type IIc
- OMIM:607091 Congenital disorder of glycosylation, type IID
- OMIM:608779 Congenital disorder of glycosylation, type IIe
- OMIM:603585 Congenital disorder of glycosylation, type IIf
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM: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:616828 Congenital disorder of glycosylation, type IIO
- OMIM:616829 Congenital disorder of glycosylation, type IIP
- OMIM:617395 Congenital disorder of glycosylation, type IIq
- OMIM:618885 Congenital disorder of glycosylation, type IIt
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- OMIM:608093 Congenital disorder of glycosylation, type Ij
- 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:613661 Congenital disorder of glycosylation, type Ip
- 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:615042 Congenital disorder of glycosylation, type Iu
- 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:292 Congenital enterovirus infection
- ORPHA:79277 Congenital erythropoietic porphyria
- ORPHA:325 Congenital factor II deficiency
- ORPHA:326 Congenital factor V deficiency
- ORPHA:327 Congenital factor VII deficiency
- ORPHA:328 Congenital factor X deficiency
- ORPHA:331 Congenital factor XIII deficiency
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:528 Congenital generalized lipodystrophy
- OMIM:617364 Congenital heart defects and ectodermal dysplasia
- OMIM:617602 Congenital heart defects and skeletal malformations syndrome
- OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- OMIM:217085 Congenital heart defects, hamartomas of tongue, and polysyndactyly
- OMIM:618780 Congenital heart defects, multiple types, 7
- 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:2185 Congenital hydrocephalus
- ORPHA:442 Congenital hypothyroidism
- ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs
- ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome
- ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability
- ORPHA:1229 Congenital intrauterine infection-like syndrome
- ORPHA:199296 Congenital isolated ACTH deficiency
- ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency
- OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- ORPHA:2430 Congenital macroglossia
- ORPHA:566 Congenital microcoria
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation
- ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement
- ORPHA:370968 Congenital muscular dystrophy with intellectual disability
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:370980 Congenital muscular dystrophy without intellectual disability
- ORPHA:272 Congenital muscular dystrophy, Fukuyama type
- ORPHA:75840 Congenital muscular dystrophy, Ullrich type
- ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:590 Congenital myasthenic syndrome
- ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect
- ORPHA:424107 Congenital myopathy with myasthenic-like onset
- ORPHA:168486 Congenital neuronal ceroid lipofuscinosis
- ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- ORPHA:295036 Congenital patella dislocation
- ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:91411 Congenital ptosis
- ORPHA:290 Congenital rubella syndrome
- ORPHA:2301 Congenital short bowel syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:141127 Congenital tracheal stenosis
- ORPHA:95430 Congenital tracheomalacia
- ORPHA:95459 Congenital tricuspid stenosis
- ORPHA:92050 Congenital tufting enteropathy
- ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris
- ORPHA:291 Congenital varicella syndrome
- ORPHA:178382 Congenital vertical talus
- ORPHA:216694 Congenitally corrected transposition of the great arteries
- ORPHA:420794 Cono-spondylar dysplasia
- OMIM:217095 Conotruncal heart malformations
- OMIM:217100 Constricting bands, congenital
- ORPHA:725 Continuous spikes and waves during sleep
- OMIM:121050 Contractural arachnodactyly, congenital
- OMIM:217150 Contractures, congenital, torticollis, and malignant hyperthermia
- OMIM:178110 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A
- ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome
- ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- OMIM:602066 Convulsions, familial infantile, with paroxysmal choreoathetosis
- OMIM:217200 Convulsive disorder, familial, with prenatal or early onset
- ORPHA:1488 Cooper-Jabs syndrome
- OMIM:121270 Copper deficiency, familial benign
- OMIM:121300 Coproporphyria
- OMIM:602082 Corneal dystrophy of bowman layer, type II
- OMIM:610048 Corneal dystrophy, congenital stromal
- OMIM:204870 Corneal dystrophy, gelatinous drop-like
- OMIM:122000 Corneal dystrophy, posterior polymorphous, 1
- OMIM:608470 Corneal dystrophy, Reis-Bucklers type
- OMIM:121850 Corneal fleck dystrophy
- 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
- ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
- ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome
- OMIM:217990 Corpus callosum, agenesis of
- OMIM:300004 Corpus callosum, agenesis of, with abnormal genitalia
- OMIM:616819 Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
- OMIM:217980 Corpus callosum, agenesis of, with facial anomalies and Robin sequence
- OMIM:300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia
- OMIM:304100 Corpus callosum, partial agenesis of, X-linked
- ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome
- ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- OMIM:614039 Cortical dysplasia, complex, with other brain malformations 1
- OMIM:618677 Cortical dysplasia, complex, with other brain malformations 10
- OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2
- OMIM:615411 Cortical dysplasia, complex, with other brain malformations 3
- OMIM:615412 Cortical dysplasia, complex, with other brain malformations 4
- OMIM:615763 Cortical dysplasia, complex, with other brain malformations 5
- OMIM:615771 Cortical dysplasia, complex, with other brain malformations 6
- OMIM:610031 Cortical dysplasia, complex, with other brain malformations 7
- OMIM:618174 Cortical dysplasia, complex, with other brain malformations 9
- OMIM:614115 Cortical malformations, occipital
- ORPHA:454887 Corticobasal syndrome
- ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome
- OMIM:218040 Costello syndrome
- ORPHA:3071 Costello syndrome
- OMIM:260660 Cousin syndrome
- OMIM:310490 Cowchock syndrome
- ORPHA:201 Cowden syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:615107 Cowden syndrome 4
- OMIM:615108 Cowden syndrome 5
- OMIM:615109 Cowden syndrome 6
- ORPHA:1512 Crane-Heise syndrome
- OMIM:218100 Cranial nerves, congenital paresis of
- OMIM:218200 Cranial nerves, recurrent paresis of
- ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement
- ORPHA:1513 Craniodiaphyseal dysplasia
- OMIM:122860 Craniodiaphyseal dysplasia, autosomal dominant
- ORPHA:1514 Craniodigital-intellectual disability syndrome
- OMIM:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:608227 Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation
- OMIM:614195 Craniofacial anomalies and anterior segment dysgenesis syndrome
- ORPHA:85168 Craniofacial conodysplasia
- OMIM:616994 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
- 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
- ORPHA:1520 Craniofrontonasal dysplasia
- OMIM:304110 Craniofrontonasal syndrome
- ORPHA:50814 Craniolenticulosutural dysplasia
- OMIM:269300 Craniometadiaphyseal dysplasia
- ORPHA:1522 Craniometaphyseal dysplasia
- OMIM:123000 Craniometaphyseal dysplasia, autosomal dominant
- OMIM:218400 Craniometaphyseal dysplasia, autosomal recessive
- ORPHA:54595 Craniopharyngioma
- ORPHA:63260 Craniorachischisis
- OMIM:218450 Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
- OMIM:123100 Craniosynostosis 1
- OMIM:604757 Craniosynostosis 2
- OMIM:615314 Craniosynostosis 3
- OMIM:600775 Craniosynostosis 4
- OMIM:616602 Craniosynostosis 6
- OMIM:617439 Craniosynostosis 7
- OMIM:614188 Craniosynostosis and dental anomalies
- OMIM:614416 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
- OMIM:608432 Craniosynostosis, calcification of basal ganglia, and facial dysmorphism
- ORPHA:2145 Craniosynostosis, Herrmann-Opitz type
- OMIM:123155 Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus
- ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome
- ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- OMIM:218650 Craniosynostosis-Mental retardation-clefting syndrome
- OMIM:218670 Craniotelencephalic dysplasia
- ORPHA:1528 Craniotelencephalic dysplasia
- OMIM:619727 Craniotubular dysplasia, Ikegawa type
- OMIM:606851 Cree mental retardation syndrome
- OMIM:123400 Creutzfeldt-Jakob disease
- OMIM:123450 Cri-Du-Chat syndrome
- ORPHA:205 Crigler-Najjar syndrome
- ORPHA:79234 Crigler-Najjar syndrome type 1
- OMIM:218800 Crigler-Najjar syndrome, type I
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- ORPHA:1545 Crisponi syndrome
- OMIM:272430 Crisponi/cold-induced sweating syndrome 1
- OMIM:617055 Crisponi/cold-Induced sweating syndrome 3
- OMIM:218900 Crome syndrome
- ORPHA:2930 Cronkhite-Canada syndrome
- ORPHA:207 Crouzon syndrome
- OMIM:123500 Crouzon syndrome
- OMIM:612247 Crouzon syndrome with acanthosis nigricans
- ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome
- ORPHA:91138 Cryoglobulinemic vasculitis
- ORPHA:1546 Cryptococcosis
- OMIM:123560 Cryptomicrotia-Brachydactyly syndrome
- ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- OMIM:300471 Cubitus valgus with mental retardation and unusual facies
- OMIM:615849 Culler-Jones syndrome
- OMIM:176450 Currarino syndrome
- OMIM:601707 Curry-Jones syndrome
- ORPHA:1553 Curry-Jones syndrome
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia
- ORPHA:79455 Cutaneous mastocytoma
- OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia
- ORPHA:79140 Cutaneous neuroendocrine carcinoma
- ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- OMIM:616603 Cutis laxa, autosomal dominant 3
- OMIM:219100 Cutis laxa, autosomal recessive, type IA
- OMIM:614437 Cutis laxa, autosomal recessive, type IB
- OMIM:219200 Cutis laxa, autosomal recessive, type IIA
- OMIM:612940 Cutis laxa, autosomal recessive, type IIB
- 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:219300 Cutis verticis gyrata and mental deficiency
- OMIM:304200 Cutis verticis gyrata, thyroid aplasia, and mental retardation
- ORPHA:306692 Cyanide-induced parkinsonism-dystonia
- ORPHA:2686 Cyclic neutropenia
- OMIM:500007 Cyclic vomiting syndrome
- ORPHA:212 Cystathioninuria
- OMIM:219550 Cysteine peptiduria
- ORPHA:400 Cystic echinococcosis
- ORPHA:586 Cystic fibrosis
- OMIM:219721 Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation
- ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- ORPHA:1560 Cysticercosis
- ORPHA:213 Cystinosis
- OMIM:219750 Cystinosis, adult nonnephropathic
- OMIM:219900 Cystinosis, late-onset juvenile or adolescent nephropathic
- OMIM:219800 Cystinosis, nephropathic
- OMIM:609162 Czech dysplasia, Metatarsal type
- ORPHA:2437 Czeizel-Losonci syndrome
Code pathologie
Nom de la pathologie
- OMIM:600721 D-2-Hydroxyglutaric aciduria 1
- OMIM:613657 D-2-hydroxyglutaric aciduria 2
- OMIM:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:941 D-glyceric aciduria
- OMIM:609222 Dandy-Walker malformation with occipital cephalocele, autosomal dominant
- OMIM:220220 Dandy-Walker malformation with postaxial polydactyly
- ORPHA:1566 Dandy-Walker malformation-postaxial polydactyly syndrome
- OMIM:220200 Dandy-Walker syndrome
- OMIM:300257 Danon disease
- OMIM:124200 Darier-White disease
- ORPHA:300536 DDOST-CDG
- ORPHA:2962 De Barsy syndrome
- OMIM:278800 De Sanctis-Cacchione syndrome
- ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type
- OMIM:221200 Deafness and myopia
- ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia
- OMIM:617772 Deafness, autosomal dominant 34, with or without inflammation
- OMIM:619081 Deafness, autosomal dominant 78
- OMIM:601369 Deafness, autosomal dominant 9
- OMIM:616515 Deafness, autosomal recessive 104
- OMIM:617654 Deafness, autosomal recessive 108
- OMIM:619093 Deafness, autosomal recessive 116
- OMIM:619615 Deafness, autosomal recessive 119
- OMIM:614945 Deafness, autosomal recessive 18B
- OMIM:614934 Deafness, autosomal recessive 70
- OMIM:613307 Deafness, autosomal recessive 79
- OMIM:613391 Deafness, autosomal recessive 84
- OMIM:601071 Deafness, autosomal recessive 9
- OMIM:619354 Deafness, cataract, impaired intellectual development, and polyneuropathy
- OMIM:221300 Deafness, conductive, with malformed external ear
- OMIM:619196 Deafness, congenital, and adult-onset progressive leukoencephalopathy
- OMIM:124480 Deafness, congenital, and onychodystrophy, autosomal dominant
- OMIM:610706 Deafness, congenital, with inner ear agenesis, microtia, and microdontia
- OMIM:220900 Deafness, congenital, with total albinism
- OMIM:300475 Deafness, dystonia, and cerebral hypomyelination
- OMIM:221400 Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy
- OMIM:609647 Deafness, neurosensory, autosomal recessive 46
- OMIM:124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease
- OMIM:221750 Deafness, sensorineural, with pituitary dwarfism
- OMIM:300614 Deafness, X-linked 5
- ORPHA:3232 Deafness-ear malformation-facial palsy syndrome
- 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
- ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning
- OMIM:614163 Delayed sleep phase disorder, susceptibility to
- ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- OMIM:619083 Delpire-Mcneill syndrome
- ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
- OMIM:117300 Dementia, familial danish
- OMIM:127750 Dementia, lewy body
- OMIM:125320 Dementia/parkinsonism with non-alzheimer amyloid plaques
- ORPHA:79134 DEND syndrome
- ORPHA:99828 Dengue fever
- ORPHA:1652 Dent disease
- OMIM:300555 Dent disease 2
- OMIM:619877 Dentici-Novelli neurodevelopmental syndrome
- ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- ORPHA:1659 Dermatoleukodystrophy
- OMIM:221790 DERMATOLEUKODYSTROPHY
- ORPHA:221 Dermatomyositis
- ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome
- OMIM:125635 Dermographism, familial
- ORPHA:99688 Dermotrichic syndrome
- OMIM:616708 Desanto-Shinawi syndrome
- OMIM:251450 Desbuquois dysplasia 1
- OMIM:615777 Desbuquois dysplasia 2
- ORPHA:1425 Desbuquois syndrome
- ORPHA:98909 Desminopathy
- ORPHA:83469 Desmoplastic small round cell tumor
- ORPHA:35107 Desmosterolosis
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:615369 Develomental and epileptic encephalopathy 94
- OMIM:619777 Developmental and epileptic encephalopathy 100
- OMIM:619814 Developmental and epileptic encephalopathy 101
- OMIM:619881 Developmental and epileptic encephalopathy 102
- OMIM:619913 Developmental and epileptic encephalopathy 103
- OMIM:619970 Developmental and epileptic encephalopathy 104
- OMIM:619983 Developmental and epileptic encephalopathy 105 with hypopituitarism
- OMIM:620028 Developmental and epileptic encephalopathy 106
- OMIM:620033 Developmental and epileptic encephalopathy 107
- OMIM:613722 Developmental and epileptic encephalopathy 12
- OMIM:300672 Developmental and epileptic encephalopathy 2
- OMIM:616056 Developmental and epileptic encephalopathy 26
- OMIM:616139 Developmental and epileptic encephalopathy 27
- OMIM:616409 Developmental and epileptic encephalopathy 33
- OMIM:617276 Developmental and epileptic encephalopathy 48
- OMIM:617830 Developmental and epileptic encephalopathy 58
- OMIM:617938 Developmental and epileptic encephalopathy 62
- OMIM:618008 Developmental and epileptic encephalopathy 65
- OMIM:618285 Developmental and epileptic encephalopathy 69
- OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet
- OMIM:618298 Developmental and epileptic encephalopathy 70
- OMIM:618379 Developmental and epileptic encephalopathy 73
- OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects
- OMIM:619124 Developmental and epileptic encephalopathy 89
- OMIM:301058 Developmental and epileptic encephalopathy 90
- OMIM:617711 Developmental and epileptic encephalopathy 91
- OMIM:619340 Developmental and epileptic encephalopathy 96
- OMIM:619561 Developmental and epileptic encephalopathy 97
- OMIM:619605 Developmental and epileptic encephalopathy 98
- OMIM:619606 Developmental and epileptic encephalopathy 99
- ORPHA:313892 Developmental and speech delay due to SOX5 deficiency
- OMIM:617836 Developmental delay and seizures with or without movement abnormalities
- OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies
- 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:619694 Developmental delay with variable neurologic and brain abnormalities
- OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
- OMIM:620012 Developmental delay, hypotonia, and impaired language
- OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
- OMIM:619090 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
- OMIM:619964 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:617991 Developmental delay, intellectual disability, obesity, and dysmorphic features
- OMIM:620141 Developmental delay, language impairment, and ocular abnormalities
- ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ORPHA:79107 Developmental malformations-deafness-dystonia syndrome
- ORPHA:1666 Dextrocardia
- OMIM:221950 Dextrocardia with unusual facies and microphthalmia
- OMIM:520000 Diabetes and deafness, maternally inherited
- OMIM:125800 Diabetes insipidus, nephrogenic, 2
- OMIM:304800 Diabetes insipidus, nephrogenic, X-linked
- OMIM:125700 Diabetes insipidus, Neurohypophyseal type
- OMIM:304900 Diabetes insipidus, Neurohypophyseal type
- OMIM:222100 Diabetes mellitus, insulin-dependent-1
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- OMIM:618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features
- OMIM:618856 Diabetes, permanent neonatal 2, with or without neurologic features
- ORPHA:1926 Diabetic embryopathy
- OMIM:222350 DIAMINOPENTANURIA
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:606164 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:612528 Diamond-Blackfan anemia 5
- ORPHA:66637 Diaphanospondylodysostosis
- OMIM:608022 Diaphanospondylodysostosis
- OMIM:620025 Diaphragmatic hernia 4, with cardiovascular defects
- OMIM:222500 DIASTEMATOMYELIA
- ORPHA:628 Diastrophic dysplasia
- OMIM:222600 Diastrophic dysplasia
- OMIM:222690 Dibasic amino aciduria I
- OMIM:222730 Dicarboxylicamino aciduria
- ORPHA:1672 Diencephalic syndrome
- OMIM:618646 Diencephalic-mesencephalic junction dysplasia syndrome 2
- OMIM:618846 Diets-Jongmans syndrome
- ORPHA:90060 Diffuse alveolar hemorrhage
- ORPHA:79456 Diffuse cutaneous mastocytosis
- ORPHA:220393 Diffuse cutaneous systemic sclerosis
- OMIM:188400 Digeorge syndrome
- ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy
- OMIM:246900 Dihydrolipoamide dehydrogenase deficiency
- ORPHA:226 Dihydropteridine reductase deficiency
- ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency
- OMIM:274270 Dihydropyrimidine dehydrogenase deficiency
- OMIM:222748 Dihydropyrimidinuria
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- OMIM:126070 Dilution, pigmentary
- ORPHA:1681 Diprosopus
- OMIM:126180 Discrimination, two-point, reduction in
- ORPHA:79168 Disorder of bile acid synthesis
- ORPHA:2983 Disorder of sex development-intellectual disability syndrome
- ORPHA:261222 Distal 16p11.2 microdeletion syndrome
- ORPHA:319171 Distal 17p13.1 microdeletion syndrome
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:261337 Distal 22q11.2 microduplication syndrome
- ORPHA:254351 Distal 7q11.23 microdeletion syndrome
- ORPHA:261102 Distal 7q11.23 microduplication syndrome
- ORPHA:399096 Distal anoctaminopathy
- ORPHA:139536 Distal hereditary motor neuropathy type 5
- 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:96129 Distal monosomy 19p13.3
- ORPHA:36367 Distal monosomy 1q
- ORPHA:1620 Distal monosomy 3p
- ORPHA:96125 Distal monosomy 6p
- ORPHA:1636 Distal monosomy 7q36
- ORPHA:1642 Distal monosomy 9p
- ORPHA:178400 Distal myopathy with anterior tibial onset
- ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement
- ORPHA:488650 Distal myopathy, Tateyama type
- ORPHA:603 Distal myopathy, Welander type
- ORPHA:98911 Distal myotilinopathy
- ORPHA:18 Distal renal tubular acidosis
- ORPHA:314588 Distal tetrasomy 15q
- ORPHA:1705 Distal trisomy 14q
- ORPHA:1707 Distal trisomy 15q
- ORPHA:3379 Distal trisomy 17q
- ORPHA:1716 Distal trisomy 18q
- ORPHA:96097 Distal trisomy 5q
- ORPHA:1745 Distal trisomy 6p
- ORPHA:293939 Distal Xq28 microduplication syndrome
- OMIM:223340 Dk phocomelia syndrome
- ORPHA:91131 DK1-CDG
- ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome
- ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1
- ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:231226 Dominant beta-thalassemia
- OMIM:222448 Donnai-Barrow syndrome
- ORPHA:2143 Donnai-Barrow syndrome
- OMIM:220500 Doors syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:255 Dopa-responsive dystonia
- ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3426 Double outlet right ventricle
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:263494 DPM3-CDG
- ORPHA:33069 Dravet syndrome
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:90037 Drug-induced autoimmune hemolytic anemia
- ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome
- ORPHA:233 Duane retraction syndrome
- OMIM:607323 Duane-Radial ray syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:262 Duchenne and Becker muscular dystrophy
- OMIM:310200 Duchenne muscular dystrophy
- ORPHA:98896 Duchenne muscular dystrophy
- ORPHA:100076 Duodenal neuroendocrine tumor
- ORPHA:314621 Duplication of the pituitary gland
- ORPHA:97339 Dural sinus malformation
- OMIM:223500 Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone
- OMIM:223540 Dwarfism, mental retardation, and eye abnormality
- OMIM:619955 Dworschak-Punetha neurodevelopmental syndrome
- 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
- OMIM:224000 Dysautonomia-Like disorder
- OMIM:127350 Dyschondrosteosis and nephritis
- ORPHA:1765 Dyschondrosteosis-nephritis syndrome
- ORPHA:41 Dyschromatosis symmetrica hereditaria
- ORPHA:1766 Dysequilibrium syndrome
- ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613989 Dyskeratosis congenita, autosomal dominant 2
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- OMIM:616553 Dyskeratosis congenita, autosomal dominant 6
- OMIM:127550 Dyskeratosis congenita, autosomal dominant, 1
- OMIM:224230 Dyskeratosis congenita, autosomal recessive 1
- 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
- OMIM:127600 Dyskeratosis, hereditary benign intraepithelial
- OMIM:619647 Dyskinesia with orofacial involvement, autosomal recessive
- OMIM:606703 Dyskinesia, familial, with facial myokymia
- OMIM:616921 Dyskinesia, limb and orofacial, infantile-onset
- OMIM:617171 Dyskinesia, seizures, and intellectual developmental disorder
- OMIM:127700 Dyslexia, susceptibility to, 1
- OMIM:600202 Dyslexia, susceptibility to, 2
- OMIM:608995 Dyslexia, susceptibility to, 8
- ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- OMIM:224250 Dysmyelination with jaundice
- ORPHA:1782 Dysosteosclerosis
- OMIM:224300 DYSOSTEOSCLEROSIS
- OMIM:619345 Dysostosis multiplex, Ain-Naz type
- ORPHA:1798 Dysostosis, Stanescu type
- OMIM:600117 Dysphasia, familial developmental
- ORPHA:168621 Dysplasia of head of femur, Meyer type
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome
- OMIM:224400 Dyssegmental dysplasia, Rolland-Desbuquois type
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- ORPHA:85198 Dysspondyloenchondromatosis
- OMIM:128100 Dystonia 1, torsion, autosomal dominant
- OMIM:159900 Dystonia 11, myoclonic
- OMIM:128235 Dystonia 12
- OMIM:607671 Dystonia 13, torsion
- OMIM:607488 Dystonia 15, myoclonic
- ORPHA:210571 Dystonia 16
- OMIM:612067 Dystonia 16
- OMIM:612406 Dystonia 17, torsion, autosomal recessive
- OMIM:224500 Dystonia 2, torsion, autosomal recessive
- OMIM:614588 Dystonia 21
- OMIM:614860 Dystonia 23
- OMIM:615034 Dystonia 24
- OMIM:615073 Dystonia 25
- OMIM:616398 Dystonia 26, myoclonic
- OMIM:616411 Dystonia 27
- ORPHA:589618 Dystonia 28
- OMIM:617284 Dystonia 28, childhood-onset
- OMIM:314250 Dystonia 3, torsion, X-linked
- OMIM:619291 Dystonia 30
- OMIM:619565 Dystonia 31
- OMIM:619637 Dystonia 32
- OMIM:619687 Dystonia 33
- OMIM:619724 Dystonia 34, myoclonic
- OMIM:619921 Dystonia 35, childhood-onset
- OMIM:128101 Dystonia 4, torsion, autosomal dominant
- OMIM:602629 Dystonia 6, torsion
- OMIM:602124 Dystonia 7, torsion
- OMIM:601042 Dystonia 9
- OMIM:611694 Dystonia with cerebellar atrophy
- OMIM:224550 Dystonia with ringbinden
- OMIM:617282 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
- OMIM:612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
- OMIM:128230 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
- OMIM:619681 Dystonia, early-onset, and/or spastic paraplegia
- OMIM:611284 Dystonia, focal, task-specific
- OMIM:607371 Dystonia, juvenile-onset
- ORPHA:412217 Dystonia-aphonia syndrome
- ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome
Code pathologie
Nom de la pathologie
- ORPHA:40923 Eales disease
- ORPHA:2554 Ear-patella-short stature syndrome
- ORPHA:1934 Early infantile epileptic encephalopathy
- ORPHA:1935 Early myoclonic encephalopathy
- ORPHA:1020 Early-onset autosomal dominant Alzheimer disease
- ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes
- ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- ORPHA:556030 Early-onset familial hypoaldosteronism
- ORPHA:256 Early-onset generalized limb-onset dystonia
- ORPHA:324290 Early-onset Lafora body disease
- ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- ORPHA:96369 Early-onset schizophrenia
- ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- ORPHA:98890 Early-onset X-linked optic atrophy
- ORPHA:199343 EAST syndrome
- ORPHA:319218 Ebola hemorrhagic fever
- OMIM:305100 Ectodermal dysplasia 1, hypohidrotic, X-linked
- OMIM:618535 Ectodermal dysplasia 15, Hypohidrotic/hair type
- OMIM:602032 Ectodermal dysplasia 4, Hair/nail type
- OMIM:614931 Ectodermal dysplasia 9, Hair/nail type
- OMIM:618727 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic
- OMIM:600906 Ectodermal dysplasia with mental retardation and syndactyly
- OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum
- OMIM:609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- ORPHA:1806 Ectodermal dysplasia-blindness syndrome
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome
- ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome
- OMIM:616029 Ectodermal dysplasia/short stature syndrome
- ORPHA:231632 Ectopic aldosterone-producing tumor
- OMIM:604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
- OMIM:129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1
- OMIM:129840 Edema, familial idiopathic, prepubertal
- OMIM:129850 Edinburgh malformation syndrome
- ORPHA:1895 Edinburgh malformation syndrome
- ORPHA:1896 EEC syndrome
- OMIM:130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
- OMIM:617821 Ehlers-Danlos syndrome, arthrochalasia type, 2
- OMIM:608763 Ehlers-danlos syndrome, Beasley-Cohen type
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- OMIM:601776 Ehlers-Danlos syndrome, musculocontractural type 1
- OMIM:615539 Ehlers-Danlos syndrome, musculocontractural type, 2
- 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:225410 Ehlers-Danlos syndrome, type VII, autosomal recessive
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- OMIM:600002 Eiken syndrome
- ORPHA:97214 Eisenmenger syndrome
- ORPHA:228240 Elastoderma
- OMIM:130200 Electroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon
- OMIM:130300 Electroencephalographic peculiarity: fronto-precentral beta wave groups
- OMIM:256710 Elejalde disease
- ORPHA:289 Ellis Van Creveld syndrome
- OMIM:225500 Ellis-Van creveld syndrome
- OMIM:211380 Elsahy-Waters syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- ORPHA:261 Emery-Dreifuss muscular dystrophy
- OMIM:310300 Emery-Dreifuss muscular dystrophy 1, X-linked
- OMIM:616516 Emery-Dreifuss muscular dystrophy 3, autosomal recessive
- ORPHA:83600 Encephalitis lethargica
- OMIM:619441 Encephalitis, acute, infection (viral)-induced, susceptibility to, 11
- OMIM:618113 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
- ORPHA:2396 Encephalocraniocutaneous lipomatosis
- OMIM:613001 Encephalocraniocutaneous lipomatosis
- OMIM:225700 Encephalomalacia, multilocular
- 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
- ORPHA:139406 Encephalopathy due to prosaposin deficiency
- ORPHA:833 Encephalopathy due to sulfite oxidase deficiency
- OMIM:610551 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
- OMIM:619396 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
- OMIM:614850 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6
- OMIM:616532 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
- OMIM:617900 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
- OMIM:608033 Encephalopathy, acute, infection-induced, susceptibility to, 3
- OMIM:614212 Encephalopathy, acute, infection-induced, susceptibility to, 4
- OMIM:618426 Encephalopathy, acute, infection-induced, susceptibility to, 9
- OMIM:225740 Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
- OMIM:602473 Encephalopathy, ethylmalonic
- OMIM:604218 Encephalopathy, familial, with neuroserpin inclusion bodies
- OMIM:300673 Encephalopathy, neonatal severe, due to mecp2 mutations
- OMIM:617668 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
- OMIM:617669 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity
- OMIM:617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
- OMIM:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
- OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
- OMIM:618331 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
- OMIM:617207 Encephalopathy, progressive, with amyotrophy and optic atrophy
- OMIM:615924 Encephalopathy, progressive, with or without lipodystrophy
- OMIM:130950 Encephalopathy, recurrent, of childhood
- ORPHA:2022 Endocardial fibroelastosis
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- ORPHA:2790 Endosteal hyperostosis, Worth type
- OMIM:619218 ENDOVE syndrome, limb-brain type
- ORPHA:60015 Enlarged parietal foramina
- ORPHA:3165 Eosinophilic fasciitis
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- ORPHA:251636 Ependymoma
- ORPHA:35125 Epidermal nevus syndrome
- OMIM:618309 Epidermodysplasia verruciformis, susceptibility to, 5
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- OMIM:619599 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive
- ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia
- ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy
- ORPHA:2199 Epidermolytic palmoplantar keratoderma
- OMIM:607628 Epilepsy with grand mal seizures on awakening
- OMIM:121201 Epilepsy, benign neonatal, 2
- OMIM:608217 Epilepsy, benign neonatal, 3
- OMIM:132090 Epilepsy, benign occipital
- OMIM:600131 Epilepsy, childhood absence, susceptibility to, 1
- OMIM:612269 Epilepsy, childhood absence, susceptibility to, 5
- OMIM:617290 Epilepsy, early-onset, vitamin b6-dependent
- OMIM:618832 Epilepsy, early-onset, with or without developmental delay
- OMIM:615400 Epilepsy, familial adult myoclonic, 5
- OMIM:618075 Epilepsy, familial adult myoclonic, 7
- OMIM:604364 Epilepsy, familial focal, with variable foci
- OMIM:617116 Epilepsy, familial focal, with variable foci 2
- OMIM:617118 Epilepsy, familial focal, with variable foci 3
- OMIM:617935 Epilepsy, familial focal, with variable foci 4
- OMIM:600512 Epilepsy, familial temporal lobe, 1
- OMIM:608096 Epilepsy, familial temporal lobe, 2
- OMIM:611630 Epilepsy, familial temporal lobe, 3
- OMIM:611631 Epilepsy, familial temporal lobe, 4
- OMIM:614417 Epilepsy, familial temporal lobe, 5
- OMIM:615697 Epilepsy, familial temporal lobe, 6
- OMIM:616436 Epilepsy, familial temporal lobe, 7
- OMIM:616461 Epilepsy, familial temporal lobe, 8
- OMIM:245570 Epilepsy, focal, with speech disorder and with or without mental retardation
- OMIM:616577 Epilepsy, hearing loss, and mental retardation syndrome
- OMIM:613339 Epilepsy, hot water, 1
- OMIM:600669 Epilepsy, idiopathic generalized
- OMIM:613060 Epilepsy, idiopathic generalized, 10
- OMIM:614847 Epilepsy, idiopathic generalized, susceptibility to, 12
- OMIM:616685 Epilepsy, idiopathic generalized, susceptibility to, 14
- OMIM:618357 Epilepsy, idiopathic generalized, susceptibility to, 15
- OMIM:618596 Epilepsy, idiopathic generalized, susceptibility to, 16
- OMIM:619521 Epilepsy, idiopathic generalized, susceptibility to, 18
- OMIM:608762 Epilepsy, idiopathic generalized, susceptibility to, 3
- OMIM:607682 Epilepsy, idiopathic generalized, susceptibility to, 9
- OMIM:607631 Epilepsy, juvenile absence
- OMIM:617924 Epilepsy, juvenile myoclonic, susceptibility to, 10
- OMIM:614280 Epilepsy, juvenile myoclonic, susceptibility to, 9
- OMIM:603204 Epilepsy, nocturnal frontal lobe, 2
- OMIM:605375 Epilepsy, nocturnal frontal lobe, 3
- OMIM:610353 Epilepsy, nocturnal frontal lobe, 4
- OMIM:615005 Epilepsy, nocturnal frontal lobe, 5
- OMIM:600513 Epilepsy, nocturnal frontal lobe, type 1
- OMIM:226800 Epilepsy, photogenic, with spastic diplegia and mental retardation
- OMIM:612437 Epilepsy, progressive myoclonic 1B
- OMIM:611726 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
- OMIM:616187 Epilepsy, progressive myoclonic 7
- OMIM:616640 Epilepsy, progressive myoclonic, 10
- OMIM:618876 Epilepsy, progressive myoclonic, 11
- OMIM:619191 Epilepsy, progressive myoclonic, 12
- OMIM:254900 Epilepsy, progressive myoclonic, 4, with or without renal failure
- OMIM:614018 Epilepsy, progressive myoclonic, 6
- OMIM:616230 Epilepsy, progressive myoclonic, 8
- OMIM:616540 Epilepsy, progressive myoclonic, 9
- OMIM:266100 Epilepsy, pyridoxine-dependent
- OMIM:132300 Epilepsy, reading
- OMIM:608105 Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp
- OMIM:301091 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
- OMIM:300491 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
- ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome
- OMIM:226850 EPILEPSY-TELANGIECTASIA
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- OMIM:613721 Epileptic encephalopathy, early infantile, 11
- OMIM:614558 Epileptic encephalopathy, early infantile, 13
- OMIM:614959 Epileptic encephalopathy, early infantile, 14
- OMIM:615006 Epileptic encephalopathy, early infantile, 15
- OMIM:615338 Epileptic encephalopathy, early infantile, 16
- OMIM:615473 Epileptic encephalopathy, early infantile, 17
- OMIM:615476 Epileptic encephalopathy, early infantile, 18
- OMIM:615744 Epileptic encephalopathy, early infantile, 19
- OMIM:615833 Epileptic encephalopathy, early infantile, 21
- OMIM:615859 Epileptic encephalopathy, early infantile, 23
- OMIM:615871 Epileptic encephalopathy, early infantile, 24
- OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta
- OMIM:616211 Epileptic encephalopathy, early infantile, 28
- OMIM:616339 Epileptic encephalopathy, early infantile, 29
- OMIM:609304 Epileptic encephalopathy, early infantile, 3
- OMIM:616341 Epileptic encephalopathy, early infantile, 30
- OMIM:616346 Epileptic encephalopathy, early infantile, 31
- OMIM:616366 Epileptic encephalopathy, early infantile, 32
- OMIM:616645 Epileptic encephalopathy, early infantile, 34
- OMIM:616647 Epileptic encephalopathy, early infantile, 35
- OMIM:300884 Epileptic encephalopathy, early infantile, 36
- OMIM:616981 Epileptic encephalopathy, early infantile, 37
- OMIM:617020 Epileptic encephalopathy, early infantile, 38
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:612164 Epileptic encephalopathy, early infantile, 4
- OMIM:617065 Epileptic encephalopathy, early infantile, 40
- OMIM:617105 Epileptic encephalopathy, early infantile, 41
- OMIM:617106 Epileptic encephalopathy, early infantile, 42
- OMIM:617113 Epileptic encephalopathy, early infantile, 43
- OMIM:617132 Epileptic encephalopathy, early infantile, 44
- OMIM:617153 Epileptic encephalopathy, early infantile, 45
- OMIM:617162 Epileptic encephalopathy, early infantile, 46
- OMIM:617166 Epileptic encephalopathy, early infantile, 47
- OMIM:617281 Epileptic encephalopathy, early infantile, 49
- OMIM:613477 Epileptic encephalopathy, early infantile, 5
- OMIM:616457 Epileptic encephalopathy, early infantile, 50
- OMIM:617339 Epileptic encephalopathy, early infantile, 51
- OMIM:617350 Epileptic encephalopathy, early infantile, 52
- OMIM:617389 Epileptic encephalopathy, early infantile, 53
- OMIM:617391 Epileptic encephalopathy, early infantile, 54
- OMIM:617599 Epileptic encephalopathy, early infantile, 55
- OMIM:617665 Epileptic encephalopathy, early infantile, 56
- OMIM:617771 Epileptic encephalopathy, early infantile, 57
- OMIM:617904 Epileptic encephalopathy, early infantile, 59
- OMIM:607208 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
- OMIM:617929 Epileptic encephalopathy, early infantile, 60
- OMIM:617933 Epileptic encephalopathy, early infantile, 61
- OMIM:617976 Epileptic encephalopathy, early infantile, 63
- OMIM:618004 Epileptic encephalopathy, early infantile, 64
- OMIM:618067 Epileptic encephalopathy, early infantile, 66
- OMIM:618141 Epileptic encephalopathy, early infantile, 67
- OMIM:618201 Epileptic encephalopathy, early infantile, 68
- OMIM:613720 Epileptic encephalopathy, early infantile, 7
- OMIM:618328 Epileptic encephalopathy, early infantile, 71
- OMIM:618374 Epileptic encephalopathy, early infantile, 72
- OMIM:618396 Epileptic encephalopathy, early infantile, 74
- OMIM:618437 Epileptic encephalopathy, early infantile, 75
- OMIM:618468 Epileptic encephalopathy, early infantile, 76
- OMIM:618548 Epileptic encephalopathy, early infantile, 77
- OMIM:618557 Epileptic encephalopathy, early infantile, 78
- OMIM:618559 Epileptic encephalopathy, early infantile, 79
- OMIM:300607 Epileptic encephalopathy, early infantile, 8
- OMIM:618580 Epileptic encephalopathy, early infantile, 80
- OMIM:618663 Epileptic encephalopathy, early infantile, 81
- OMIM:618721 Epileptic encephalopathy, early infantile, 82
- OMIM:618744 Epileptic encephalopathy, early infantile, 83
- OMIM:618792 Epileptic encephalopathy, early infantile, 84
- OMIM:618910 Epileptic encephalopathy, early infantile, 86
- OMIM:618916 Epileptic encephalopathy, early infantile, 87
- OMIM:618959 Epileptic encephalopathy, early infantile, 88
- OMIM:300088 Epileptic encephalopathy, early infantile, 9
- OMIM:617829 Epileptic encephalopathy, infantile or early childhood, 2
- OMIM:618012 Epileptic encephalopathy, infantile or early childhood, 3
- OMIM:132400 Epiphyseal dysplasia, multiple, 1
- OMIM:600204 Epiphyseal dysplasia, multiple, 2
- OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
- ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- ORPHA:37612 Episodic ataxia type 1
- ORPHA:79135 Episodic ataxia type 3
- ORPHA:79136 Episodic ataxia type 4
- ORPHA:211067 Episodic ataxia type 5
- ORPHA:209967 Episodic ataxia type 6
- ORPHA:209970 Episodic ataxia type 7
- ORPHA:401953 Episodic ataxia with slurred speech
- OMIM:160120 Episodic ataxia, type 1
- OMIM:108500 Episodic ataxia, type 2
- OMIM:606554 Episodic ataxia, type 3
- OMIM:606552 Episodic ataxia, type 4
- OMIM:613855 Episodic ataxia, type 5
- OMIM:612656 Episodic ataxia, type 6
- OMIM:611907 Episodic ataxia, type 7
- OMIM:616055 Episodic ataxia, type 8
- OMIM:618924 Episodic ataxia, type 9
- OMIM:128200 Episodic kinesigenic dyskinesia 1
- OMIM:611031 Episodic kinesigenic dyskinesia 2
- OMIM:615551 Episodic pain syndrome, familial, 2
- OMIM:615552 Episodic pain syndrome, familial, 3
- OMIM:122400 Epithelial recurrent erosion dystrophy
- ORPHA:293381 Epithelial recurrent erosion dystrophy
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:999 Ermine phenotype
- OMIM:227010 Ermine phenotype
- OMIM:133020 Erythermalgia, primary
- OMIM:133100 Erythrocytosis, familial, 1
- OMIM:263400 Erythrocytosis, familial, 2
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- OMIM:133240 Esophageal ring, lower
- OMIM:610247 Esophagitis, eosinophilic, 1
- OMIM:613412 Esophagitis, eosinophilic, 2
- ORPHA:3318 Essential thrombocythemia
- ORPHA:785 Estrogen resistance syndrome
- ORPHA:31826 Ethylene glycol poisoning
- ORPHA:51188 Ethylmalonic encephalopathy
- ORPHA:1959 Evans syndrome
- OMIM:616854 Even-Plus syndrome
- ORPHA:466650 Exercise-induced malignant hyperthermia
- OMIM:612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis
- OMIM:133700 Exostoses, multiple, type I
- OMIM:133701 Exostoses, multiple, type II
- ORPHA:322 Exstrophy-epispadias complex
- ORPHA:494424 Extracranial carotid artery aneurysm
- OMIM:133750 Extrasystoles, multiform ventricular, with short stature, hyperpigmentationand microcephaly
- ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Code pathologie
Nom de la pathologie
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:227250 Facial abnormalities, kyphoscoliosis, and mental retardation
- OMIM:227255 Facial dysmorphism with multiple malformations
- OMIM:618381 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome
- ORPHA:85162 Facial onset sensory and motor neuronopathy
- OMIM:617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- OMIM:134200 Facial palsy, familial recurrent peripheral
- OMIM:601471 Facial paresis, hereditary congenital, 1
- OMIM:604185 Facial paresis, hereditary congenital, 2
- OMIM:614744 Facial paresis, hereditary congenital, 3
- OMIM:134300 Facial spasm
- OMIM:612731 Faciocardiomelic syndrome
- ORPHA:1973 Faciocardiorenal syndrome
- OMIM:227280 Faciocardiorenal syndrome
- OMIM:227330 Faciodigitogenital syndrome, autosomal recessive
- OMIM:606840 Faciomandibular myoclonus, nocturnal
- OMIM:158900 Facioscapulohumeral muscular dystrophy 1
- OMIM:158901 Facioscapulohumeral muscular dystrophy 2
- OMIM:227500 Factor VII deficiency
- OMIM:227600 Factor X deficiency
- OMIM:613225 Factor XIII, A subunit, deficiency of
- ORPHA:306550 FADD-related immunodeficiency
- OMIM:601127 Fallot complex with severe mental and growth retardation
- ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome
- ORPHA:88619 Familial acute necrotizing encephalopathy
- ORPHA:733 Familial adenomatous polyposis
- OMIM:616415 Familial adenomatous polyposis 3
- OMIM:617100 Familial adenomatous polyposis 4
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- ORPHA:98880 Familial afibrinogenemia
- ORPHA:280397 Familial Alzheimer-like prion disease
- ORPHA:229 Familial aortic dissection
- ORPHA:615 Familial atrial myxoma
- ORPHA:86820 Familial avascular necrosis of femoral head
- ORPHA:1551 Familial benign copper deficiency
- ORPHA:1416 Familial calcium pyrophosphate deposition
- ORPHA:221061 Familial cerebral cavernous malformation
- ORPHA:231160 Familial cerebral saccular aneurysm
- ORPHA:36382 Familial cervical artery dissection
- ORPHA:444490 Familial chylomicronemia syndrome
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- OMIM:120100 Familial cold inflammatory syndrome 1
- ORPHA:47045 Familial cold urticaria
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:238722 Familial congenital mirror movements
- ORPHA:1799 Familial developmental dysphasia
- ORPHA:75376 Familial drusen
- OMIM:615999 Familial dysalbuminemic hyperthyroxinemia
- ORPHA:1764 Familial dysautonomia
- ORPHA:324588 Familial dyskinesia and facial myokymia
- ORPHA:891 Familial exudative vitreoretinopathy
- ORPHA:98820 Familial focal epilepsy with variable foci
- ORPHA:99819 Familial gestational hyperthyroidism
- ORPHA:361 Familial glucocorticoid deficiency
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis
- ORPHA:403 Familial hyperaldosteronism type I
- ORPHA:404 Familial hyperaldosteronism type II
- ORPHA:251274 Familial hyperaldosteronism type III
- ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor
- ORPHA:427 Familial hypoaldosteronism
- ORPHA:405 Familial hypocalciuric hypercalcemia
- ORPHA:1677 Familial idiopathic dilatation of the right atrium
- ORPHA:225154 Familial infantile bilateral striatal necrosis
- ORPHA:352582 Familial infantile myoclonic epilepsy
- ORPHA:2238 Familial isolated hypoparathyroidism
- ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
- ORPHA:75249 Familial isolated restrictive cardiomyopathy
- ORPHA:3000 Familial male-limited precocious puberty
- ORPHA:342 Familial Mediterranean fever
- OMIM:249100 Familial Mediterranean fever, AR
- ORPHA:618 Familial melanoma
- ORPHA:276399 Familial multinodular goiter
- ORPHA:199276 Familial multiple lipomatosis
- ORPHA:624 Familial multiple nevi flammei
- ORPHA:569 Familial or sporadic hemiplegic migraine
- ORPHA:2769 Familial osteodysplasia, Anderson type
- ORPHA:319487 Familial papillary or follicular thyroid carcinoma
- ORPHA:97 Familial paroxysmal ataxia
- ORPHA:2348 Familial partial lipodystrophy, Dunnigan type
- ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type
- OMIM:609579 Familial scaphocephaly syndrome, Mcgillivray type
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:71493 Familial thrombocytosis
- ORPHA:95716 Familial thyroid dyshormonogenesis
- ORPHA:2604 Familial visceral myopathy
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:227645 Fanconi anemia, complementation group C
- OMIM: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: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:617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U
- OMIM:617243 Fanconi anemia, complementation group V
- OMIM:617784 Fanconi anemia, complementation group W
- OMIM:227810 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:329308 Fatty acid hydroxylase-associated neurodegeneration
- ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency
- OMIM:619376 Faundes-Banka syndrome
- ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- OMIM:611634 Febrile convulsions, familial, 9
- ORPHA:163703 Febrile infection-related epilepsy syndrome
- OMIM:121210 Febrile seizures, familial, 1
- OMIM:614418 Febrile seizures, familial, 11
- OMIM:602477 Febrile seizures, familial, 2
- OMIM:604352 Febrile seizures, familial, 4
- OMIM:609255 Febrile seizures, familial, 5
- OMIM:609253 Febrile seizures, familial, 6
- OMIM:607681 Febrile seizures, familial, 8
- ORPHA:1305 Feingold syndrome
- OMIM:164280 Feingold syndrome 1
- OMIM:614326 Feingold syndrome 2
- ORPHA:391641 Feingold syndrome type 1
- ORPHA:391646 Feingold syndrome type 2
- ORPHA:47612 Felty syndrome
- ORPHA:101039 Female restricted epilepsy with intellectual disability
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- OMIM:619699 Ferguson-Bonni neurodevelopmental syndrome
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- OMIM:300073 Fetal akinesia syndrome, X-linked
- OMIM:619602 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
- ORPHA:1915 Fetal alcohol syndrome
- ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia
- ORPHA:85212 Fetal Gaucher disease
- ORPHA:1912 Fetal hydantoin syndrome
- OMIM:228355 Fetal iodine deficiency disorder
- ORPHA:1910 Fetal iodine syndrome
- ORPHA:1917 Fetal methylmercury syndrome
- ORPHA:1913 Fetal trimethadione syndrome
- OMIM:300321 Fg syndrome 2
- OMIM:300422 Fg syndrome 4
- ORPHA:93932 FG syndrome type 1
- ORPHA:337 Fibrodysplasia ossificans progressiva
- OMIM:135100 Fibrodysplasia ossificans progressiva
- OMIM:135300 Fibromatosis, gingival, 1
- OMIM:135580 Fibromuscular dysplasia of arteries
- OMIM:619329 Fibromuscular dysplasia, multifocal
- ORPHA:84090 Fibronectin glomerulopathy
- OMIM:600638 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement
- OMIM:609384 Fibrosis of extraocular muscles, congenital, 3B
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- ORPHA:249 Fibrous dysplasia of bone
- ORPHA:93323 Fibular hemimelia
- OMIM:609524 Filaminopathy, autosomal dominant
- OMIM:272440 Filippi syndrome
- ORPHA:3255 Filippi syndrome
- ORPHA:399086 Finnish upper limb-onset distal myopathy
- ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9
- ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:2045 FLOTCH syndrome
- OMIM:136300 Flynn-Aird syndrome
- ORPHA:2047 Flynn-Aird syndrome
- OMIM:607341 Focal cortical dysplasia of taylor
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- ORPHA:398189 Focal facial dermal dysplasia type IV
- OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- ORPHA:79093 Foix-Alajouanine syndrome
- ORPHA:2048 Foix-Chavany-Marie syndrome
- OMIM:229050 Folate malabsorption, hereditary
- ORPHA:79097 Folinic acid-responsive seizures
- ORPHA:545 Follicular lymphoma
- OMIM:612289 Fontaine progeroid syndrome
- ORPHA:228371 Foodborne botulism
- ORPHA:51208 Formiminoglutamic aciduria
- OMIM:229100 Formiminotransferase deficiency
- OMIM:613606 Forsythe-Wakeling syndrome
- OMIM:229120 Fountain syndrome
- ORPHA:3219 Fountain syndrome
- OMIM:136480 Fourth cranial nerve palsy, familial congenital
- ORPHA:561854 FOXG1 syndrome
- ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion
- OMIM:249420 Frank-ter Haar syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- ORPHA:347 Frasier syndrome
- ORPHA:100974 FRAXF syndrome
- ORPHA:834 Free sialic acid storage disease
- ORPHA:2053 Freeman-Sheldon syndrome
- OMIM:229250 Freesia flowers, inability to smell
- OMIM:609640 Frias syndrome
- ORPHA:85335 Fried syndrome
- ORPHA:1931 Frontal encephalocele
- ORPHA:1791 Frontofacionasal dysplasia
- OMIM:229400 Frontofacionasal dysplasia
- ORPHA:1826 Frontometaphyseal dysplasia
- OMIM:305620 Frontometaphyseal dysplasia
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:136760 Frontonasal dysplasia 1
- OMIM:613451 Frontonasal dysplasia 2
- OMIM:613456 Frontonasal dysplasia 3
- ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome
- ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- OMIM:605321 Frontoocular syndrome
- ORPHA:391474 Frontorhiny
- OMIM:600274 Frontotemporal dementia
- OMIM:615911 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- OMIM:616437 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
- OMIM:616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- OMIM:619141 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
- OMIM:613954 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
- OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7
- OMIM:619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8
- ORPHA:275872 Frontotemporal dementia with motor neuron disease
- OMIM:607485 Frontotemporal lobar degeneration with TDP43 inclusions
- OMIM:229500 Fructose and galactose intolerance
- OMIM:229600 Fructose intolerance, hereditary
- OMIM:229700 Fructose-1,6-Bisphosphatase deficiency
- ORPHA:348 Fructose-1,6-bisphosphatase deficiency
- OMIM:600776 Fryns microphthalmia syndrome
- OMIM:229850 Fryns syndrome
- ORPHA:2059 Fryns syndrome
- ORPHA:2058 Fryns-Smeets-Thiry syndrome
- OMIM:230000 FUCOSIDOSIS
- ORPHA:349 Fucosidosis
- ORPHA:637 Full NF2-related schwannomatosis
- OMIM:606812 Fumarase deficiency
- ORPHA:91348 Functioning gonadotropic adenoma
- ORPHA:228119 Fusariosis
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
- OMIM:230200 Galactokinase deficiency
- ORPHA:79238 Galactose epimerase deficiency
- OMIM:230350 Galactose epimerase deficiency
- ORPHA:570422 Galactose mutarotase deficiency
- OMIM:230400 GALACTOSEMIA
- ORPHA:352 Galactosemia
- OMIM:618881 Galactosemia IV
- ORPHA:351 Galactosialidosis
- OMIM:256540 Galactosialidosis
- ORPHA:100086 Gallbladder neuroendocrine tumor
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:619609 Galloway-Mowat syndrome 10
- OMIM:301006 Galloway-Mowat syndrome 2, X-linked
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:617730 Galloway-Mowat syndrome 4
- OMIM:617731 Galloway-Mowat syndrome 5
- OMIM:618347 Galloway-Mowat syndrome 6
- OMIM:618348 Galloway-Mowat syndrome 7
- OMIM:618349 Galloway-Mowat syndrome 8
- OMIM:619603 Galloway-Mowat syndrome 9
- OMIM:230450 Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- ORPHA:251937 Gangliocytoma
- ORPHA:251992 Ganglioneuroma
- OMIM:230740 Gapo syndrome
- ORPHA:2067 GAPO syndrome
- ORPHA:79665 Gardner syndrome
- OMIM:619708 Gastrointestinal defects and immunodeficiency syndrome 2
- OMIM:606764 Gastrointestinal stromal tumor
- ORPHA:44890 Gastrointestinal stromal tumor
- ORPHA:355 Gaucher disease
- ORPHA:77260 Gaucher disease type 2
- ORPHA:77261 Gaucher disease type 3
- OMIM:610539 Gaucher disease, atypical
- OMIM:608013 Gaucher disease, perinatal lethal
- OMIM:230900 Gaucher disease, type II
- OMIM:231000 Gaucher disease, type III
- OMIM:231005 Gaucher disease, type IIIC
- ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- OMIM:607313 Gaze palsy, familial horizontal, with progressive scoliosis, 1
- OMIM:617542 Gaze palsy, familial horizontal, with progressive scoliosis, 2
- ORPHA:438274 GCGR-related hyperglucagonemia
- 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
- OMIM:604233 Generalized epilepsy with febrile seizures plus, type 1
- OMIM:618482 Generalized epilepsy with febrile seizures plus, type 10
- OMIM:604403 Generalized epilepsy with febrile seizures plus, type 2
- OMIM:609800 Generalized epilepsy with febrile seizures plus, type 4
- OMIM:613863 Generalized epilepsy with febrile seizures plus, type 7
- OMIM:616172 Generalized epilepsy with febrile seizures plus, type 9
- ORPHA:36387 Generalized epilepsy with febrile seizures-plus
- ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome
- ORPHA:411777 Generalized eruptive keratoacanthoma
- ORPHA:786 Generalized glucocorticoid resistance syndrome
- ORPHA:99845 Genetic recurrent myoglobinuria
- ORPHA:656 Genetic steroid-resistant nephrotic syndrome
- ORPHA:226316 Genetic transient congenital hypothyroidism
- OMIM:190100 Geniospasm 1
- ORPHA:2075 Genitopalatocardiac syndrome
- ORPHA:85201 Genitopatellar syndrome
- OMIM:606170 Genitopatellar syndrome
- OMIM:618820 Genitourinary and/or/brain malformation syndrome
- OMIM:231080 German syndrome
- ORPHA:2077 German syndrome
- ORPHA:2078 Geroderma osteodysplastica
- OMIM:231070 Geroderma osteodysplasticum
- OMIM:137440 Gerstmann-Straussler disease
- ORPHA:356 Gerstmann-Straussler-Scheinker syndrome
- ORPHA:1802 Ghosal hematodiaphyseal dysplasia
- OMIM:612917 Giacheti syndrome
- ORPHA:643 Giant axonal neuropathy
- OMIM:256850 Giant axonal neuropathy 1, autosomal recessive
- OMIM:610100 Giant axonal neuropathy, autosomal dominant
- ORPHA:397 Giant cell arteritis
- OMIM:137580 Gilles de la tourette syndrome
- OMIM:206700 Gillespie syndrome
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- OMIM:273800 Glanzmann thrombasthenia
- OMIM:612313 Glass syndrome
- OMIM:137763 Glaucoma - sleep apnea
- OMIM:613086 Glaucoma 3, primary congenital, D
- ORPHA:2085 Glaucoma-sleep apnea syndrome
- ORPHA:360 Glioblastoma
- OMIM:137800 Glioma susceptibility 1
- OMIM:613029 Glioma susceptibility 3
- OMIM:616568 Glioma susceptibility 9
- OMIM:618330 Global developmental delay with or without impaired intellectual development
- OMIM:619243 Global developmental delay with speech and behavioral abnormalities
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- OMIM:618272 Global developmental delay, lung cysts, overgrowth, and wilms tumor
- OMIM:618412 Global developmental delay, progressive ataxia, and elevated glutamine
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome
- ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- ORPHA:221098 Glossopharyngeal neuralgia
- ORPHA:97280 Glucagonoma
- OMIM:202200 Glucocorticoid deficiency 1
- OMIM:614736 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
- OMIM:615962 Glucocorticoid resistance, generalized
- OMIM:606777 GLUT1 deficiency syndrome 1, infantile onset, severe
- OMIM:612126 Glut1 deficiency syndrome 2
- OMIM:231630 Glutamate monosodium sensitivity
- ORPHA:33574 Glutamate-cysteine ligase deficiency
- OMIM:610015 Glutamine deficiency, congenital
- OMIM:231670 Glutaric acidemia I
- ORPHA:35706 Glutaric acidemia type 3
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- ORPHA:32 Glutathione synthetase deficiency
- OMIM:266130 Glutathione synthetase deficiency
- OMIM:231950 GLUTATHIONURIA
- OMIM:307030 Glycerol kinase deficiency
- OMIM:605899 Glycine encephalopathy
- ORPHA:407 Glycine encephalopathy
- OMIM:617301 Glycine encephalopathy with normal serum glycine
- OMIM:240600 Glycogen storage disease 0, liver
- OMIM:611556 Glycogen storage disease 0, muscle
- 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:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
- ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency
- ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency
- ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
- ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency
- OMIM:232300 Glycogen storage disease II
- OMIM:232500 Glycogen storage disease IV
- OMIM:613027 Glycogen storage disease IXc
- OMIM:261740 Glycogen storage disease of heart, lethal congenital
- OMIM:611881 Glycogen storage disease XII
- OMIM:306000 Glycogen storage disease, type IXa1
- OMIM:616025 Glycosylphosphatidylinositol biosynthesis defect 11
- OMIM:617810 Glycosylphosphatidylinositol biosynthesis defect 15
- OMIM:617816 Glycosylphosphatidylinositol biosynthesis defect 16
- OMIM:618010 Glycosylphosphatidylinositol biosynthesis defect 17
- OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18
- OMIM:619985 Glycosylphosphatidylinositol biosynthesis defect 25
- OMIM:610293 Glycosylphosphatidylinositol deficiency
- 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
- OMIM:272750 Gm2-Gangliosidosis, ab variant
- ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:2090 GMS syndrome
- OMIM:138770 Gms syndrome
- ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome
- ORPHA:602 GNE myopathy
- ORPHA:66629 Goldberg-Shprintzen megacolon syndrome
- OMIM:609460 Goldberg-Shprintzen 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
- ORPHA:169105 Good syndrome
- ORPHA:73 Gorham-Stout disease
- ORPHA:377 Gorlin syndrome
- ORPHA:2095 Gorlin-Chaudhry-Moss syndrome
- OMIM:602361 Gracile bone dysplasia
- ORPHA:39812 Graft versus host disease
- OMIM:602531 Grange syndrome
- ORPHA:79094 Grange syndrome
- ORPHA:98962 Granular corneal dystrophy type I
- OMIM:306300 Granulomas, congenital cerebral
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- OMIM:275000 Graves disease
- OMIM:175700 Greig cephalopolysyndactyly syndrome
- ORPHA:380 Greig cephalopolysyndactyly syndrome
- ORPHA:97261 GRFoma
- ORPHA:381 Griscelli syndrome
- ORPHA:79476 Griscelli syndrome type 1
- ORPHA:79477 Griscelli syndrome type 2
- OMIM:214450 Griscelli syndrome, type 1
- OMIM:607624 Griscelli syndrome, type 2
- OMIM:609227 Griscelli syndrome, type 3
- 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: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: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
- ORPHA:2101 Grubben-de Cock-Borghgraef syndrome
- ORPHA:382 Guanidinoacetate methyltransferase deficiency
- OMIM:601187 Gurrieri syndrome
- ORPHA:414 Gyrate atrophy of choroid and retina
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- ORPHA:99803 Haddad syndrome
- OMIM:612946 Hadziselimovic syndrome
- OMIM:234030 Hair defect with photosensitivity and mental retardation
- OMIM:234250 Hall-Riggs mental retardation syndrome
- ORPHA:2107 Hall-Riggs syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:611174 Hamamy syndrome
- ORPHA:93946 Hamel cerebro-palato-cardiac syndrome
- OMIM:139750 Hand and foot deformity with flat facies
- OMIM:301068 Hardikar syndrome
- OMIM:617183 Harel-Yoon syndrome
- ORPHA:457 Harlequin ichthyosis
- OMIM:601095 Harrod syndrome
- ORPHA:2115 Harrod syndrome
- ORPHA:2116 Hartnup disease
- OMIM:234500 Hartnup disorder
- ORPHA:2117 Hartsfield syndrome
- OMIM:615465 Hartsfield syndrome
- OMIM:140350 Hawkinsinuria
- ORPHA:163596 Hb Bart's hydrops fetalis
- OMIM:616920 Heart and brain malformation syndrome
- ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome
- ORPHA:1350 Heart-hand syndrome type 2
- ORPHA:2119 HEC syndrome
- OMIM:616617 Heimler syndrome 2
- OMIM:617671 Helix syndrome
- ORPHA:244242 HELLP syndrome
- OMIM:615873 Helsmoortel-van der Aa syndrome
- ORPHA:252054 Hemangioblastoma
- OMIM:614034 Heme oxygenase-1 deficiency
- ORPHA:306741 Hemidystonia-hemiatrophy syndrome
- OMIM:141300 Hemifacial atrophy, progressive
- OMIM:164210 Hemifacial microsomia
- OMIM:141405 Hemifacial spasm, familial
- OMIM:235000 Hemihyperplasia, isolated
- ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome
- ORPHA:99802 Hemimegalencephaly
- ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome
- ORPHA:79230 Hemochromatosis type 2
- OMIM:602390 Hemochromatosis, type 2A
- OMIM:231900 Hemolytic anemia due to glutathione synthetase deficiency
- OMIM:612300 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
- OMIM:613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency
- OMIM:619462 Hemolytic disease of fetus and newborn, RH-induced
- OMIM:235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1
- OMIM:267700 Hemophagocytic lymphohistiocytosis, familial, 1
- OMIM:603553 Hemophagocytic lymphohistiocytosis, familial, 2
- OMIM:603552 Hemophagocytic lymphohistiocytosis, familial, 4
- ORPHA:158048 Hemophagocytic syndrome associated with an infection
- OMIM:613730 Hemorrhagic destruction of the brain, subependymal calcification,and cataracts
- 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:3325 Heparin-induced thrombocytopenia
- ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
- ORPHA:890 Hepatic veno-occlusive disease
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- OMIM:235550 Hepatic venoocclusive disease with immunodeficiency
- OMIM:618549 Hepatitis, fulminant viral, susceptibility to
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:95159 Hepatoerythropoietic porphyria
- ORPHA:64743 Hepatoportal sclerosis
- OMIM:619902 Hepatorenocardiac degenerative fibrosis
- ORPHA:85450 Hereditary amyloidosis with primary renal involvement
- ORPHA:100050 Hereditary angioedema type 1
- ORPHA:1867 Hereditary bullous dystrophy, macular type
- ORPHA:30925 Hereditary central diabetes insipidus
- ORPHA:972 Hereditary continuous muscle fiber activity
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:90045 Hereditary folate malabsorption
- ORPHA:469 Hereditary fructose intolerance
- ORPHA:53372 Hereditary geniospasm
- ORPHA:774 Hereditary hemorrhagic telangiectasia
- ORPHA:3197 Hereditary hyperekplexia
- ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria
- ORPHA:411602 Hereditary late-onset Parkinson disease
- ORPHA:621 Hereditary methemoglobinemia
- OMIM:600361 Hereditary motor and sensory neuropathy V
- OMIM:601152 Hereditary motor and sensory neuropathy VI
- ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type
- OMIM:606071 Hereditary motor and sensory neuropathy, type IIC
- ORPHA:1839 Hereditary mucoepithelial dysplasia
- ORPHA:178464 Hereditary myopathy with early respiratory failure
- ORPHA:1062 Hereditary neurocutaneous malformation
- ORPHA:640 Hereditary neuropathy with liability to pressure palsies
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5
- ORPHA:822 Hereditary spherocytosis
- ORPHA:79430 Hermansky-Pudlak syndrome
- OMIM:203300 Hermansky-Pudlak syndrome 1
- OMIM:617050 Hermansky-Pudlak syndrome 10
- OMIM:619172 Hermansky-Pudlak syndrome 11
- OMIM:608233 Hermansky-Pudlak syndrome 2
- OMIM:614075 Hermansky-Pudlak syndrome 6
- OMIM:614171 Hermansky-Pudlak syndrome 9
- ORPHA:2139 Hernández-Aguirre Negrete syndrome
- ORPHA:1930 Herpes simplex virus encephalitis
- OMIM:306955 Heterotaxy, visceral, 1, X-linked
- OMIM:605376 Heterotaxy, visceral, 2, autosomal
- OMIM:270100 Heterotaxy, visceral, 5
- OMIM:300049 Heterotopia, periventricular, X-linked dominant
- OMIM:618724 Heyn-Sproul-Jackson syndrome
- OMIM:306960 Hhhh syndrome
- OMIM:619311 Hiatt-Neu-Cooper neurodevelopmental syndrome
- ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type
- ORPHA:388 Hirschsprung disease
- OMIM:235760 Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures
- OMIM:235740 Hirschsprung disease with polydactyly, renal agenesis, and deafness
- OMIM:306980 Hirschsprung disease with type D brachydactyly
- OMIM:235750 Hirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect
- OMIM:613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction
- OMIM:142623 Hirschsprung disease, susceptibility to, 1
- OMIM:600155 Hirschsprung disease, susceptibility to, 2
- OMIM:613711 Hirschsprung disease, susceptibility to, 3
- OMIM:613712 Hirschsprung disease, susceptibility to, 4
- OMIM:600156 Hirschsprung disease, susceptibility to, 5
- ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome
- ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome
- ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome
- OMIM:142625 Hirsutism, skeletal dysplasia, and mental retardation
- OMIM:235800 HISTIDINEMIA
- ORPHA:2157 Histidinemia
- OMIM:235830 Histidinuria due to A renal tubular defect
- ORPHA:2158 Histidinuria-renal tubular defect syndrome
- ORPHA:137675 Histiocytoid cardiomyopathy
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- OMIM:605911 HMG-CoA synthase-2 deficiency
- ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:98293 Hodgkin lymphoma
- ORPHA:79242 Holocarboxylase synthetase deficiency
- OMIM:253270 Holocarboxylase synthetase deficiency
- ORPHA:2162 Holoprosencephaly
- OMIM:236100 Holoprosencephaly 1
- OMIM:614226 Holoprosencephaly 11
- OMIM:618500 Holoprosencephaly 12 with or without pancreatic agenesis
- OMIM:301043 Holoprosencephaly 13, X-linked
- OMIM:619895 Holoprosencephaly 14
- OMIM:157170 Holoprosencephaly 2
- OMIM:142945 Holoprosencephaly 3
- OMIM:142946 Holoprosencephaly 4
- OMIM:609637 Holoprosencephaly 5
- OMIM:610828 Holoprosencephaly 7
- OMIM:610829 Holoprosencephaly 9
- OMIM:306990 Holoprosencephaly with fetal akinesia/hypokinesia sequence
- OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis
- OMIM:601370 Holoprosencephaly, semilobar, with craniosynostosis
- ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome
- ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome
- ORPHA:2167 Holzgreve syndrome
- OMIM:236130 HOMOCARNOSINOSIS
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:622 Homocystinuria without methylmalonic aciduria
- OMIM:236270 Homocystinuria-megaloblastic anemia, cbl E type
- OMIM:250940 Homocystinuria-megaloblastic anemia, cblg Complementation type
- ORPHA:391665 Homozygous familial hypercholesterolemia
- OMIM:236300 Hooft disease
- ORPHA:2744 Horizontal gaze palsy with progressive scoliosis
- OMIM:143000 Horner syndrome, congenital
- ORPHA:3322 Hoyeraal-Hreidarsson syndrome
- ORPHA:391417 HSD10 disease
- ORPHA:85295 HSD10 disease, atypical type
- ORPHA:391428 HSD10 disease, infantile type
- ORPHA:391457 HSD10 disease, neonatal type
- OMIM:300438 HSD10 mitochondrial disease
- ORPHA:228116 Hughes-Stovin syndrome
- ORPHA:3265 Humero-radial 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
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- OMIM:236450 Hutterite cerebroosteonephrodysplasia syndrome
- OMIM:228600 Hyaline fibromatosis syndrome
- ORPHA:2177 Hydranencephaly
- OMIM:307000 Hydrocephalus due to congenital stenosis of aqueduct of sylvius
- OMIM:236640 Hydrocephalus with associated malformations
- OMIM:307010 Hydrocephalus with cerebellar agenesis
- ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius
- OMIM:618667 Hydrocephalus, congenital communicating, 1
- OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies
- OMIM:617967 Hydrocephalus, congenital, 3, with brain anomalies
- OMIM:600559 Hydrocephalus, endocardial fibroelastosis, and cataracts
- OMIM:236600 Hydrocephalus, nonsyndromic, autosomal recessive 1
- OMIM:236690 Hydrocephalus, normal pressure, 1
- OMIM:600991 Hydrocephalus, skeletal anomalies, and mental disturbance
- OMIM:236660 Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis
- ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome
- ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome
- ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome
- ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome
- ORPHA:2189 Hydrolethalus
- OMIM:236680 Hydrolethalus syndrome 1
- OMIM:614120 Hydrolethalus syndrome 2
- OMIM:617021 Hydrops, lactic acidosis, and sideroblastic anemia
- ORPHA:79155 Hydroxykynureninuria
- OMIM:236900 Hydroxylysinuria
- OMIM:237000 HYDROXYPROLINEMIA
- OMIM:237400 HYPER-BETA-ALANINEMIA
- OMIM:260920 Hyper-Igd syndrome
- OMIM:618282 Hyper-IgE recurrent infection syndrome 3, autosomal recessive
- OMIM:618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive
- OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive
- OMIM:613677 Hyperaldosteronism, familial, type III
- OMIM:615751 Hyperammonemia due to carbonic anhydrase VA deficiency
- ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency
- OMIM:237900 Hyperbilirubinemia, familial transient neonatal
- OMIM:143880 Hypercalcemia, infantile, 1
- OMIM:149400 Hyperekplexia 1
- OMIM:614619 Hyperekplexia 2
- OMIM:614618 Hyperekplexia 3
- OMIM:618011 Hyperekplexia 4
- ORPHA:163985 Hyperekplexia-epilepsy syndrome
- OMIM:607685 Hypereosinophilic syndrome, idiopathic
- OMIM:614462 Hyperglycinemia, lactic acidosis, and seizures
- OMIM:238320 Hypergonadotropic hypogonadism
- ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome
- ORPHA:343 Hyperimmunoglobulinemia D with periodic fever
- OMIM:256450 Hyperinsulinemic hypoglycemia, familial, 1
- OMIM:602485 Hyperinsulinemic hypoglycemia, familial, 3
- OMIM:609975 Hyperinsulinemic hypoglycemia, familial, 4
- OMIM:609968 Hyperinsulinemic hypoglycemia, familial, 5
- OMIM:606762 Hyperinsulinemic hypoglycemia, familial, 6
- OMIM:610021 Hyperinsulinemic hypoglycemia, familial, 7
- ORPHA:79299 Hyperinsulinism due to glucokinase deficiency
- ORPHA:324575 Hyperinsulinism due to HNF1A deficiency
- ORPHA:263455 Hyperinsulinism due to HNF4A deficiency
- ORPHA:263458 Hyperinsulinism due to INSR deficiency
- ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- ORPHA:276556 Hyperinsulinism due to UCP2 deficiency
- ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome
- OMIM:170500 Hyperkalemic periodic paralysis
- ORPHA:682 Hyperkalemic periodic paralysis
- OMIM:238340 HYPERLEUCINE-ISOLEUCINEMIA
- OMIM:238350 HYPERLEXIA
- OMIM:144600 Hyperlipoproteinemia, type IV
- ORPHA:2203 Hyperlysinemia
- OMIM:238710 Hyperlysinemia due to defect in lysine transport into mitochondria
- OMIM:238700 Hyperlysinemia, type I
- OMIM:238750 Hyperlysinuria with hyperammonemia
- OMIM:613280 Hypermanganesemia with dystonia 1
- OMIM:617013 Hypermanganesemia with dystonia 2
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- OMIM:613752 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- OMIM:238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
- ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- OMIM:239100 Hyperostosis corticalis generalisata
- ORPHA:3416 Hyperostosis corticalis generalisata
- OMIM:144755 Hyperostosis cranialis interna
- OMIM:144800 Hyperostosis frontalis interna
- OMIM:259900 Hyperoxaluria, primary, type I
- OMIM:239200 Hyperparathyroidism, neonatal severe
- OMIM:618188 Hyperparathyroidism, transient neonatal
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome
- OMIM:261640 Hyperphenylalaninemia, BH4-deficient, A
- OMIM:233910 Hyperphenylalaninemia, BH4-deficient, B
- OMIM:261630 Hyperphenylalaninemia, bh4-deficient, C
- OMIM:264070 Hyperphenylalaninemia, BH4-deficient, D
- OMIM:617384 Hyperphenylalaninemia, MILD, non-bh4-deficient
- OMIM:615716 Hyperphosphatasia with impaired intellectual development syndrome 4
- OMIM:239300 Hyperphosphatasia with mental retardation
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- OMIM:614207 Hyperphosphatasia with mental retardation syndrome 3
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:239350 Hyperphosphatemia, polyuria, and seizures
- OMIM:615555 HYPERPROLACTINEMIA
- ORPHA:419 Hyperprolinemia type 1
- ORPHA:79101 Hyperprolinemia type 2
- OMIM:239500 Hyperprolinemia, type I
- OMIM:239510 Hyperprolinemia, type II
- OMIM:145290 HYPERREFLEXIA
- OMIM:614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
- OMIM:239800 Hypertelorism, microtia, facial clefting syndrome
- ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome
- ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome
- OMIM:145590 Hyperthermia, cutaneous, with headaches and nausea
- OMIM:603373 Hyperthyroidism, familial gestational
- OMIM:609152 Hyperthyroidism, nonautoimmune
- ORPHA:2220 Hypertrichosis cubiti
- OMIM:239840 Hypertrichosis, congenital anterior cervical, with peripheral sensory
- OMIM:239850 Hypertrichotic osteochondrodysplasia
- OMIM:145750 Hypertriglyceridemia, familial
- OMIM:239900 Hypertrophic neuropathy and cataract
- OMIM:145900 Hypertrophic neuropathy of dejerine-sottas
- OMIM:600627 HYPERTRYPTOPHANEMIA
- OMIM:240000 Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase
- OMIM:618850 Hypervalinemia or hyperleucine-isoleucinemia
- ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- OMIM:240200 Hypoadrenocorticism, familial
- OMIM:610600 Hypoaldosteronism, congenital, due to CMO II deficiency
- OMIM:615558 Hypobetalipoproteinemia, familial, 1
- 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
- OMIM:600740 Hypocalciuric hypercalcemia, familial, type III
- ORPHA:429 Hypochondroplasia
- OMIM:146000 Hypochondroplasia
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- OMIM:612776 Hypoglossia with situs inversus
- ORPHA:989 Hypoglossia-hypodactyly syndrome
- OMIM:240800 Hypoglycemia of infancy, leucine-sensitive
- OMIM:241000 Hypogonadism with low-grade mental deficiency and microcephaly
- OMIM:307500 Hypogonadism, male, with mental retardation and skeletal anomalies
- OMIM:240950 Hypogonadism-Cataract syndrome
- ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- OMIM:308700 Hypogonadotropic hypogonadism 1 with or without anosmia
- OMIM:614839 Hypogonadotropic hypogonadism 10 with or without anosmia
- OMIM:614841 Hypogonadotropic hypogonadism 12 with or without anosmia
- OMIM:614842 Hypogonadotropic hypogonadism 13 with or without anosmia
- OMIM:614858 Hypogonadotropic hypogonadism 14 with or without anosmia
- OMIM:614880 Hypogonadotropic hypogonadism 15 with or without anosmia
- OMIM:614897 Hypogonadotropic hypogonadism 16 with or without anosmia
- OMIM:615266 Hypogonadotropic hypogonadism 17 with or without anosmia
- OMIM:615267 Hypogonadotropic hypogonadism 18 with or without anosmia
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- OMIM:615270 Hypogonadotropic hypogonadism 20 with or without anosmia
- OMIM:615271 Hypogonadotropic hypogonadism 21 with or without anosmia
- OMIM:616030 Hypogonadotropic hypogonadism 22 with or without anosmia
- OMIM:228300 Hypogonadotropic hypogonadism 23 without anosmia
- OMIM:229070 Hypogonadotropic hypogonadism 24 without anosmia
- OMIM:618841 Hypogonadotropic hypogonadism 25 with anosmia
- OMIM:619718 Hypogonadotropic hypogonadism 26 with or without anosmia
- OMIM:619755 Hypogonadotropic hypogonadism 27 without anosmia
- OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia
- OMIM:610628 Hypogonadotropic hypogonadism 4 with or without anosmia
- OMIM:612370 Hypogonadotropic hypogonadism 5 with or without anosmia
- OMIM:612702 Hypogonadotropic hypogonadism 6 with or without anosmia
- OMIM:146110 Hypogonadotropic hypogonadism 7 without anosmia
- OMIM:614837 Hypogonadotropic hypogonadism 8 with or without anosmia
- OMIM:614838 Hypogonadotropic hypogonadism 9 with or without anosmia
- ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability 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
- ORPHA:681 Hypokalemic periodic paralysis
- OMIM:170400 Hypokalemic periodic paralysis, type 1
- OMIM:613345 Hypokalemic periodic paralysis, type 2
- OMIM:619406 Hypokalemic tubulopathy and deafness
- OMIM:602014 Hypomagnesemia 1, intestinal
- OMIM:154020 Hypomagnesemia 2, renal
- OMIM:248250 Hypomagnesemia 3, renal
- OMIM:611718 Hypomagnesemia 4, renal
- OMIM:613882 Hypomagnesemia 6, renal
- OMIM:616418 Hypomagnesemia, seizures, and mental retardation
- OMIM:618314 Hypomagnesemia, seizures, and mental retardation 2
- ORPHA:1790 Hypomandibular faciocranial dysostosis
- OMIM:300337 Hypomelanosis of ito
- ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome
- OMIM:615281 Hypomyelination with brainstem and spinal cord involvement and legspasticity
- ORPHA:85163 Hypomyelination-congenital cataract syndrome
- ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- OMIM:146200 Hypoparathyroidism, familial isolated
- OMIM:618883 Hypoparathyroidism, familial isolated 2
- OMIM:146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia
- OMIM:307700 Hypoparathyroidism, X-linked
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- ORPHA:436 Hypophosphatasia
- OMIM:241510 Hypophosphatasia, childhood
- OMIM:241500 Hypophosphatasia, infantile
- OMIM:612089 Hypophosphatemic rickets and hyperparathyroidism
- OMIM:241530 Hypophosphatemic rickets with hypercalciuria, hereditary
- OMIM:307800 Hypophosphatemic rickets, X-linked dominant
- OMIM:618541 Hypopigmentation, organomegaly, and delayed myelination and development
- ORPHA:722 Hypoplasminogenemia
- OMIM:607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
- ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome
- OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- ORPHA:90673 Hypothyroidism due to TSH receptor mutations
- OMIM:300888 Hypothyroidism, central, and testicular enlargement
- OMIM:275200 Hypothyroidism, congenital, nongoitrous, 1
- OMIM:218700 Hypothyroidism, congenital, nongoitrous, 2
- OMIM:275100 Hypothyroidism, congenital, nongoitrous, 4
- OMIM:225250 Hypothyroidism, congenital, nongoitrous, 5
- OMIM:614450 Hypothyroidism, congenital, nongoitrous, 6
- OMIM:618573 Hypothyroidism, congenital, nongoitrous, 7
- OMIM:301033 Hypothyroidism, congenital, nongoitrous, 8
- OMIM:301035 Hypothyroidism, congenital, nongoitrous, 9
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
- OMIM:617915 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- OMIM:616816 Hypotonia, infantile, with psychomotor retardation
- OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
- OMIM:616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:163690 Hypotonia-cystinuria syndrome
- ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome
- ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type
- OMIM:137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome
- ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Code pathologie
Nom de la pathologie
- ORPHA:254509 Iatrogenic botulism
- ORPHA:2268 ICF syndrome
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- OMIM:308200 Ichthyosis and male hypogonadism
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:242510 Ichthyosis with alopecia, eclabion, ectropion, and mental retardation
- OMIM:602400 Ichthyosis, congenital, autosomal recessive 11
- OMIM:242100 Ichthyosis, congenital, autosomal recessive 2
- OMIM:601277 Ichthyosis, congenital, autosomal recessive 4A
- OMIM:619016 Ichthyosis, follicular, with atrichia and photophobia syndrome 2
- OMIM:242520 Ichthyosis, hepatosplenomegaly, and cerebellar degeneration
- OMIM:242530 Ichthyosis, mental retardation, dwarfism, and renal impairment
- OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation
- OMIM:242550 Ichthyosis, split hairs, and amino aciduria
- OMIM:308100 Ichthyosis, X-linked
- ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- OMIM:601039 Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin
- OMIM:618527 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
- ORPHA:930 Idiopathic achalasia
- ORPHA:280914 Idiopathic anterior uveitis
- ORPHA:1320 Idiopathic camptocormia
- ORPHA:95717 Idiopathic congenital hypothyroidism
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:238624 Idiopathic intracranial hypertension
- ORPHA:85193 Idiopathic juvenile osteoporosis
- ORPHA:567544 Idiopathic non-lupus full-house nephropathy
- ORPHA:280921 Idiopathic panuveitis
- ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome
- ORPHA:209956 Idiopathic uveal effusion syndrome
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:449427 IgG4-related pachymeningitis
- ORPHA:64744 IgG4-related thyroid disease
- ORPHA:100078 Ileal neuroendocrine tumor
- OMIM:618786 Imagawa-Matsumoto syndrome
- ORPHA:35858 Imerslund-Gräsbeck syndrome
- OMIM:242600 IMINOGLYCINURIA
- ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- ORPHA:3002 Immune thrombocytopenia
- ORPHA:206569 Immune-mediated necrotizing myopathy
- OMIM:619872 Immunodeficiency 101 (varicella zoster virus-specific)
- OMIM:615816 Immunodeficiency 23
- OMIM:615966 Immunodeficiency 26 with or without neurologic abnormalities
- OMIM:614892 Immunodeficiency 31A
- OMIM:226990 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
- OMIM:616005 Immunodeficiency 36
- OMIM:616098 Immunodeficiency 37
- OMIM:616126 Immunodeficiency 38 with basal ganglia calcification
- OMIM:616636 Immunodeficiency 44
- OMIM:616740 Immunodeficiency 46
- OMIM:300972 Immunodeficiency 47
- OMIM:617237 Immunodeficiency 49
- OMIM:609981 Immunodeficiency 54
- OMIM:617827 Immunodeficiency 55
- OMIM:618131 Immunodeficiency 58
- OMIM:233600 Immunodeficiency 59 and hypoglycemia
- OMIM:300310 Immunodeficiency 61
- OMIM:618847 Immunodeficiency 66
- OMIM:612260 Immunodeficiency 68
- OMIM:617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
- OMIM:618982 Immunodeficiency 72 with autoinflammation
- OMIM:619126 Immunodeficiency 75
- OMIM:619220 Immunodeficiency 78 with autoimmunity and developmental delay
- OMIM:615401 Immunodeficiency 8
- OMIM:613002 Immunodeficiency 83, susceptibility to viral infections
- OMIM:612782 Immunodeficiency 9
- OMIM:619644 Immunodeficiency 91 and hyperinflammation
- OMIM:619705 Immunodeficiency 93 and hypertrophic cardiomyopathy
- OMIM:619774 Immunodeficiency 96
- ORPHA:572 Immunodeficiency by defective expression of MHC class II
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency
- OMIM:615577 Immunodeficiency, common variable, 10
- OMIM:240500 Immunodeficiency, common variable, 2
- 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:616911 Immunodeficiency-centromeric instability-facial anomalies syndrome 4
- OMIM:614069 Immunodeficiency-Centromeric instability-facial anomalies syndrome2
- OMIM:304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
- ORPHA:761 Immunoglobulin A vasculitis
- OMIM:308250 Immunoglobulin M, level of
- OMIM:300076 Immunoneurologic disorder, X-linked
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- OMIM:617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities
- OMIM:619733 Inclusion body myopathy and brain white matter abnormalities
- OMIM:167320 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1
- OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
- OMIM:615424 Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- OMIM:147421 Inclusion body myositis
- ORPHA:611 Inclusion body myositis
- OMIM:308300 Incontinentia pigmenti
- ORPHA:464 Incontinentia pigmenti
- OMIM:243000 Indifference to pain, congenital, autosomal recessive
- OMIM:243050 Indolylacroyl glycinuria with mental retardation
- ORPHA:178478 Infant botulism
- OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
- OMIM:614559 Infantile cerebellar-retinal degeneration
- ORPHA:1313 Infantile choroidocerebral calcification syndrome
- ORPHA:31709 Infantile convulsions and choreoathetosis
- ORPHA:238455 Infantile dystonia-parkinsonism
- ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- ORPHA:206436 Infantile Krabbe disease
- OMIM:615438 Infantile liver failure syndrome 1
- OMIM:616483 Infantile liver failure syndrome 2
- OMIM:618641 Infantile liver failure syndrome 3
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:2591 Infantile myofibromatosis
- ORPHA:411629 Infantile nephropathic cystinosis
- ORPHA:35069 Infantile neuroaxonal dystrophy
- ORPHA:79263 Infantile neuronal ceroid lipofuscinosis
- ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia
- ORPHA:772 Infantile Refsum disease
- OMIM:269920 Infantile sialic acid storage disease
- ORPHA:3451 Infantile spasms syndrome
- ORPHA:3173 Infantile spasms-broad thumbs syndrome
- ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis
- ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:1186 Infantile-onset spinocerebellar ataxia
- ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy
- ORPHA:544482 Infection-related hemolytic uremic syndrome
- OMIM:613759 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
- OMIM:619398 Inflammatory bowel disease (infantile ulcerative colitis) 31
- OMIM:618213 Inflammatory bowel disease, immunodeficiency, and encephalopathy
- ORPHA:247257 Inhalational anthrax
- ORPHA:254504 Inhalational botulism
- ORPHA:282166 Inherited Creutzfeldt-Jakob disease
- ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- ORPHA:63259 Iniencephaly
- OMIM:147530 Insensitivity to pain with hyperplastic myelinopathy
- OMIM:256800 Insensitivity to pain, congenital, with anhidrosis
- OMIM:608747 Insulin-Like growth factor I deficiency
- OMIM:270450 Insulin-Like growth factor I, resistance to
- ORPHA:97279 Insulinoma
- OMIM:606960 Insulinoma tumor suppressor gene locus
- OMIM:147630 Insulinomatosis and diabetes mellitus
- OMIM:618522 Intellectual developmental disorder 59
- OMIM:618587 Intellectual developmental disorder 60 with seizures
- OMIM:618009 Intellectual developmental disorder 61
- OMIM:618793 Intellectual developmental disorder 62
- OMIM:619326 Intellectual developmental disorder and hypogonadotropic hypogonadism
- OMIM:618195 Intellectual developmental disorder and retinitis pigmentosa
- OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
- OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies
- OMIM:615032 Intellectual developmental disorder with autism and macrocephaly
- OMIM:606053 Intellectual developmental disorder with autism and speech delay
- OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures
- OMIM:618725 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
- OMIM:617173 Intellectual developmental disorder with cardiac arrhythmia
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- 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:618092 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
- OMIM:619031 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
- OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
- OMIM:618147 Intellectual developmental disorder with hypertelorism and distinctive facies
- OMIM:618748 Intellectual developmental disorder with hypotonia and behavioral abnormalities
- OMIM:619556 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:619911 Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
- OMIM:618158 Intellectual developmental disorder with macrocephaly, seizures, and speech delay
- OMIM:620007 Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
- OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
- OMIM:617532 Intellectual developmental disorder with neuropsychiatric features
- OMIM:620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features
- OMIM:618060 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
- OMIM:619844 Intellectual developmental disorder with or without peripheral neuropathy
- OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures
- OMIM:617101 Intellectual developmental disorder with persistence of fetal hemoglobin
- OMIM:618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia
- OMIM:619000 Intellectual developmental disorder with seizures and language delay
- OMIM:618470 Intellectual developmental disorder with severe speech and ambulation defects
- 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:619099 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
- OMIM:618672 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
- OMIM:614563 Intellectual developmental disorder, autosomal dominant 13
- 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:612580 Intellectual developmental disorder, autosomal dominant 3
- OMIM:616083 Intellectual developmental disorder, autosomal dominant 30
- OMIM:616311 Intellectual developmental disorder, autosomal dominant 33
- OMIM:616393 Intellectual developmental disorder, autosomal dominant 38
- OMIM:616579 Intellectual developmental disorder, autosomal dominant 40
- OMIM:616977 Intellectual developmental disorder, autosomal dominant 43
- OMIM:617600 Intellectual developmental disorder, autosomal dominant 45
- OMIM:617601 Intellectual developmental disorder, autosomal dominant 46
- OMIM:617751 Intellectual developmental disorder, autosomal dominant 48
- OMIM:612621 Intellectual developmental disorder, autosomal dominant 5
- 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:617854 Intellectual developmental disorder, autosomal dominant 56
- OMIM:618106 Intellectual developmental disorder, autosomal dominant 58
- OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures
- OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
- OMIM:619188 Intellectual developmental disorder, autosomal dominant 64
- OMIM:619320 Intellectual developmental disorder, autosomal dominant 65
- OMIM:619910 Intellectual developmental disorder, autosomal dominant 66
- OMIM:619927 Intellectual developmental disorder, autosomal dominant 67
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:617863 Intellectual developmental disorder, autosomal dominant 69
- OMIM:249500 Intellectual developmental disorder, autosomal recessive 1
- OMIM:613192 Intellectual developmental disorder, autosomal recessive 13
- OMIM:614020 Intellectual developmental disorder, autosomal recessive 14
- OMIM:607417 Intellectual developmental disorder, autosomal recessive 2
- OMIM:614345 Intellectual developmental disorder, autosomal recessive 24
- OMIM:608443 Intellectual developmental disorder, autosomal recessive 3
- OMIM:615493 Intellectual developmental disorder, autosomal recessive 37
- OMIM:611107 Intellectual developmental disorder, autosomal recessive 4
- OMIM:615637 Intellectual developmental disorder, autosomal recessive 41
- OMIM:615817 Intellectual developmental disorder, autosomal recessive 43
- OMIM:615942 Intellectual developmental disorder, autosomal recessive 44
- OMIM:615979 Intellectual developmental disorder, autosomal recessive 45
- OMIM:616116 Intellectual developmental disorder, autosomal recessive 46
- OMIM:611091 Intellectual developmental disorder, autosomal recessive 5
- OMIM:617028 Intellectual developmental disorder, autosomal recessive 54
- OMIM:617323 Intellectual developmental disorder, autosomal recessive 59
- OMIM:617432 Intellectual developmental disorder, autosomal recessive 60
- OMIM:617773 Intellectual developmental disorder, autosomal recessive 61
- OMIM:618095 Intellectual developmental disorder, autosomal recessive 63
- OMIM:618103 Intellectual developmental disorder, autosomal recessive 64
- OMIM:618109 Intellectual developmental disorder, autosomal recessive 65
- OMIM:618295 Intellectual developmental disorder, autosomal recessive 67
- OMIM:618302 Intellectual developmental disorder, autosomal recessive 68
- OMIM:618383 Intellectual developmental disorder, autosomal recessive 69
- OMIM:611093 Intellectual developmental disorder, autosomal recessive 7
- OMIM:618402 Intellectual developmental disorder, autosomal recessive 70
- OMIM:618504 Intellectual developmental disorder, autosomal recessive 71
- OMIM:618665 Intellectual developmental disorder, autosomal recessive 72
- OMIM:619717 Intellectual developmental disorder, autosomal recessive 73
- OMIM:617169 Intellectual developmental disorder, autosomal recessive 74
- OMIM:619827 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
- OMIM:619931 Intellectual developmental disorder, autosomal recessive 76
- OMIM:619988 Intellectual developmental disorder, autosomal recessive 77
- OMIM:301024 Intellectual developmental disorder, X-linked 108
- OMIM:300454 Intellectual developmental disorder, X-linked 77
- OMIM:300518 Intellectual developmental disorder, X-linked 82
- OMIM:300852 Intellectual developmental disorder, X-linked 88
- 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:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- OMIM:619719 Intellectual disability and myopathy syndrome
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:166108 Intellectual disability, Birk-Barel type
- ORPHA:3079 Intellectual disability, Buenos-Aires type
- ORPHA:3080 Intellectual disability, Wolff type
- OMIM:277990 Intellectual disability, Wolff type
- ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome
- 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:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome
- ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome
- ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome
- ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
- ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome
- ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
- ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked
- ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- 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:3074 Intellectual disability-short stature-hypertelorism syndrome
- ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome
- ORPHA:363528 Intellectual disability-strabismus syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- ORPHA:171433 Intermediate nemaline myopathy
- ORPHA:210110 Intermediate osteopetrosis
- ORPHA:981 Internal carotid absence
- OMIM:243100 Internal carotid arteries, hypoplasia of
- OMIM:615486 Interstitial lung and liver disease
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- ORPHA:178481 Intestinal botulism
- OMIM:300048 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
- OMIM:243200 Intracranial hypertension, idiopathic
- ORPHA:69665 Intrahepatic cholestasis of pregnancy
- 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
- OMIM:261000 Intrinsic factor deficiency
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- ORPHA:209981 IRIDA syndrome
- ORPHA:209943 IRVAN syndrome
- ORPHA:84142 Isaacs syndrome
- OMIM:601367 Ischemic stroke, susceptibility to
- ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:1048 Isolated anencephaly/exencephaly
- ORPHA:30391 Isolated biliary atresia
- ORPHA:1398 Isolated cerebellar agenesis
- ORPHA:209908 Isolated childhood apraxia of speech
- ORPHA:199302 Isolated cleft lip
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:91416 Isolated congenital alacrima
- ORPHA:141152 Isolated congenital hypoglossia/aglossia
- ORPHA:217 Isolated Dandy-Walker malformation
- ORPHA:1885 Isolated ectopia lentis
- ORPHA:563612 Isolated exencephaly
- ORPHA:65683 Isolated focal cortical dysplasia
- 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:2345 Isolated Klippel-Feil syndrome
- ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects
- ORPHA:137902 Isolated optic nerve hypoplasia/aplasia
- ORPHA:166119 Isolated osteopoikilosis
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:457083 Isolated splenogonadal fusion
- ORPHA:3208 Isolated succinate-CoQ reductase deficiency
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- OMIM:243440 Isotretinoin embryopathy-like syndrome
- ORPHA:2305 Isotretinoin syndrome
- ORPHA:2306 Isotretinoin-like syndrome
- OMIM:243450 Isovaleric acid, inability to smell
- OMIM:243500 Isovaleric acidemia
- ORPHA:33 Isovaleric acidemia
- ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20
Code pathologie
Nom de la pathologie
- OMIM:617988 Jaberi-Elahi syndrome
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- ORPHA:1873 Jalili syndrome
- OMIM:217080 Jalili syndrome
- ORPHA:79139 Japanese encephalitis
- OMIM:251255 Jawad syndrome
- ORPHA:139431 Jeavons syndrome
- ORPHA:100077 Jejunal neuroendocrine tumor
- ORPHA:90647 Jervell and Lange-Nielsen 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
- ORPHA:475 Joubert syndrome
- OMIM:213300 Joubert syndrome 1
- OMIM:300804 Joubert syndrome 10
- OMIM:614173 Joubert syndrome 13
- OMIM:614424 Joubert syndrome 14
- OMIM:614464 Joubert syndrome 15
- OMIM:614465 Joubert syndrome 16
- OMIM:614615 Joubert syndrome 17
- OMIM:614815 Joubert syndrome 18
- OMIM:608091 Joubert syndrome 2
- OMIM:614970 Joubert syndrome 20
- OMIM:615636 Joubert syndrome 21
- OMIM:615665 Joubert syndrome 22
- OMIM:616490 Joubert syndrome 23
- OMIM:616654 Joubert syndrome 24
- OMIM:616781 Joubert syndrome 25
- OMIM:616784 Joubert syndrome 26
- OMIM:617120 Joubert syndrome 27
- OMIM:617121 Joubert syndrome 28
- OMIM:608629 Joubert syndrome 3
- OMIM:617622 Joubert syndrome 30
- OMIM:617761 Joubert syndrome 31
- OMIM:617757 Joubert syndrome 32
- OMIM:617767 Joubert syndrome 33
- OMIM:618161 Joubert syndrome 35
- OMIM:618763 Joubert syndrome 36
- OMIM:619185 Joubert syndrome 37
- OMIM:619476 Joubert syndrome 38
- OMIM:619562 Joubert syndrome 39
- OMIM:609583 Joubert syndrome 4
- OMIM:619582 Joubert syndrome 40
- OMIM:610188 Joubert syndrome 5
- OMIM:610688 Joubert syndrome 6
- OMIM:611560 Joubert syndrome 7
- OMIM:612291 Joubert syndrome 8
- OMIM:612285 Joubert syndrome 9
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:220493 Joubert syndrome with ocular defect
- ORPHA:2318 Joubert syndrome with oculorenal defect
- ORPHA:220497 Joubert syndrome with renal defect
- ORPHA:2319 Juberg-Hayward syndrome
- OMIM:244100 Jumping frenchman of maine
- ORPHA:2321 Jung syndrome
- ORPHA:1941 Juvenile absence epilepsy
- ORPHA:300605 Juvenile amyotrophic lateral sclerosis
- ORPHA:93672 Juvenile dermatomyositis
- ORPHA:307 Juvenile myoclonic epilepsy
- ORPHA:289596 Juvenile nasopharyngeal angiofibroma
- ORPHA:411634 Juvenile nephropathic cystinosis
- ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis
- ORPHA:79076 Juvenile polyposis of infancy
- ORPHA:2929 Juvenile polyposis syndrome
- OMIM:175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- ORPHA:247604 Juvenile primary lateral sclerosis
- ORPHA:93399 Juvenile sialidosis type 2
- ORPHA:26137 Juvenile temporal arteritis
- 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
- OMIM:608149 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
- OMIM:612713 Kahrizi syndrome
- ORPHA:478 Kallmann syndrome
- OMIM:308750 Kallmann syndrome with spastic paraplegia
- ORPHA:2326 Kallmann syndrome-heart disease syndrome
- OMIM:609242 Kanzaki disease
- ORPHA:33276 Kaposi sarcoma
- ORPHA:464329 Kaposiform lymphangiomatosis
- OMIM:244300 Kapur-Toriello syndrome
- ORPHA:2328 Kapur-Toriello syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- ORPHA:2331 Kawasaki disease
- OMIM:619125 Kaya-Barakat-Masson syndrome
- OMIM:148050 KBG syndrome
- ORPHA:2332 KBG syndrome
- ORPHA:439218 KCNQ2-related epileptic encephalopathy
- ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability
- OMIM:530000 Kearns-Sayre syndrome
- ORPHA:480 Kearns-Sayre syndrome
- OMIM:301026 Keipert 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:148210 Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant
- OMIM:244600 Keratoconus posticus circumscriptus
- ORPHA:494 Keratoderma hereditarium mutilans
- ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis
- OMIM:148360 Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensoryneuropathy
- OMIM:620009 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
- OMIM:148200 Keratoendotheliitis fugax hereditaria
- OMIM:612843 Keratosis follicularis spinulosa decalvans, autosomal dominant
- OMIM:308800 Keratosis follicularis spinulosa decalvans, X-linked
- OMIM:308830 Keratosis follicularis, dwarfism, and cerebral atrophy
- ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome
- OMIM:604093 Keratosis pilaris atrophicans
- ORPHA:499 Kerion celsi
- ORPHA:293807 Ketamine-induced biliary dilatation
- ORPHA:85202 Keutel syndrome
- OMIM:245150 Keutel syndrome
- OMIM:618460 Khan-Khan-Katsanis syndrome
- ORPHA:477 KID syndrome
- ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome
- OMIM:245180 Kifafa seizure disorder
- ORPHA:50918 Kikuchi-Fujimoto disease
- OMIM:619080 Kilquist syndrome
- ORPHA:2908 Kindler epidermolysis bullosa
- OMIM:173650 Kindler syndrome
- OMIM:619542 King-Denborough syndrome
- OMIM:619297 KINSSHIP syndrome
- OMIM:148800 Kleeblattschaedel syndrome
- 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:148840 Kleine-Levin hibernation syndrome
- ORPHA:399081 KLHL9-related early-onset distal myopathy
- OMIM:118100 Klippel-Feil syndrome 1, autosomal dominant
- 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
- ORPHA:1571 Knobloch syndrome
- OMIM:618458 Knobloch syndrome 2
- OMIM:267750 Knobloch syndrome, type 1
- OMIM:226750 Kohlschutter-Tonz syndrome
- 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:611722 Krabbe disease, atypical, due to saposin A deficiency
- OMIM:606693 Kufor-Rakeb syndrome
- ORPHA:306674 Kufor-Rakeb syndrome
- OMIM:619762 Kury-Isidor syndrome
- ORPHA:1149 Kuskokwim syndrome
- ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- 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
- OMIM:236792 L-2-hydroxyglutaric aciduria
- ORPHA:79314 L-2-hydroxyglutaric aciduria
- OMIM:615604 L-ferritin deficiency, dominant and recessive
- ORPHA:275543 L1 syndrome
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- OMIM:245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID
- ORPHA:501 Lafora disease
- ORPHA:59135 Laing early-onset distal myopathy
- ORPHA:530983 Lamb-Shaffer syndrome
- OMIM:616803 Lamb-Shaffer syndrome
- OMIM:245550 Lambert syndrome
- ORPHA:1296 Lambert syndrome
- ORPHA:43393 Lambert-Eaton myasthenic syndrome
- OMIM:245552 Lambotte syndrome
- ORPHA:313 Lamellar ichthyosis
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy
- ORPHA:98818 Landau-Kleffner syndrome
- OMIM:617182 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
- ORPHA:626 Large congenital melanocytic nevus
- 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
- OMIM:308850 Laryngeal abductor paralysis
- OMIM:150260 Laryngeal abductor paralysis
- ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome
- OMIM:150270 Laryngeal adductor paralysis
- ORPHA:100083 Laryngeal neuroendocrine tumor
- ORPHA:137935 Laryngotracheal angioma
- ORPHA:2004 Laryngotracheoesophageal cleft
- ORPHA:93941 Laryngotracheoesophageal cleft type 4
- ORPHA:99824 Lassa fever
- ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis
- ORPHA:206443 Late-infantile/juvenile Krabbe disease
- ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type
- ORPHA:556037 Late-onset familial hypoaldosteronism
- ORPHA:199299 Late-onset isolated ACTH deficiency
- ORPHA:67042 Late-onset retinal degeneration
- OMIM:130720 Lateral meningocele syndrome
- ORPHA:2789 Lateral meningocele syndrome
- OMIM:607330 Lathosterolosis
- ORPHA:46059 Lathosterolosis
- ORPHA:98964 Lattice corneal dystrophy type I
- OMIM:245800 Laurence-Moon syndrome
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:2378 Laurin-Sandrow syndrome
- ORPHA:330015 Lead poisoning
- ORPHA:65 Leber congenital amaurosis
- OMIM:611755 Leber congenital amaurosis 10
- OMIM:613341 Leber congenital amaurosis 14
- OMIM:614186 Leber congenital amaurosis 16
- OMIM:613826 Leber congenital amaurosis 6
- OMIM:613829 Leber congenital amaurosis 7
- OMIM:613835 Leber congenital amaurosis 8
- OMIM:608553 Leber congenital amaurosis 9
- OMIM:617879 Leber congenital amaurosis with early-onset deafness
- OMIM:204000 Leber congenital amaurosis, type I
- OMIM:204100 Leber congenital amaurosis, type II
- ORPHA:104 Leber hereditary optic neuropathy
- OMIM:535000 Leber optic atrophy
- OMIM:500001 Leber optic atrophy and dystonia
- ORPHA:199251 Ledderhose disease
- OMIM:246000 Leg, absence deformity of, with congenital cataract
- ORPHA:549 Legionnaires disease
- ORPHA:137605 Legius syndrome
- OMIM:611431 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:140936 Lelis syndrome
- ORPHA:2382 Lennox-Gastaut syndrome
- OMIM:151000 Lentiginosis, centrofacial neurodysraphic
- OMIM:151050 Lenz-Majewski hyperostotic dwarfism
- ORPHA:2658 Lenz-Majewski hyperostotic dwarfism
- OMIM:151100 Leopard syndrome 1
- OMIM:613707 Leopard syndrome 3
- ORPHA:508 Leprechaunism
- ORPHA:548 Leprosy
- OMIM:614962 Leptin deficiency or dysfunction
- OMIM:614963 Leptin receptor deficiency
- ORPHA:509 Leptospirosis
- ORPHA:2900 Leri pleonosteosis
- OMIM:308950 Lesch-Nyhan phenotype with normal hgprt
- ORPHA:510 Lesch-Nyhan syndrome
- OMIM:300322 Lesch-Nyhan syndrome
- OMIM:619149 Lessel-Kreienkamp syndrome
- ORPHA:1187 Lethal ataxia with deafness and optic atrophy
- OMIM:253310 Lethal congenital contracture syndrome 1
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:607598 Lethal congenital contracture syndrome 2
- OMIM:615368 Lethal congenital contracture syndrome 5
- OMIM:616286 Lethal congenital contracture syndrome 7
- OMIM:616287 Lethal congenital contracture syndrome 8
- ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome
- ORPHA:254857 Lethal infantile mitochondrial myopathy
- ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:2736 Lethal omphalocele-cleft palate syndrome
- ORPHA:1832 Lethal osteosclerotic bone dysplasia
- OMIM:246400 Letterer-Siwe disease
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:616763 Leukodystrophy and acquired microcephaly with or without dystonia
- OMIM:169500 Leukodystrophy, adult-onset, autosomal dominant
- OMIM:619864 Leukodystrophy, childhood-onset, remitting
- OMIM:616420 Leukodystrophy, hypomyelinating, 10
- OMIM:616494 Leukodystrophy, hypomyelinating, 11
- OMIM:616683 Leukodystrophy, hypomyelinating, 12
- 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:618688 Leukodystrophy, hypomyelinating, 19, transient infantile
- OMIM:608804 Leukodystrophy, hypomyelinating, 2
- OMIM:619071 Leukodystrophy, hypomyelinating, 20
- OMIM:619310 Leukodystrophy, hypomyelinating, 21
- OMIM:619328 Leukodystrophy, hypomyelinating, 22
- OMIM:619688 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
- OMIM:619851 Leukodystrophy, hypomyelinating, 24
- OMIM:260600 Leukodystrophy, hypomyelinating, 3
- OMIM:612233 Leukodystrophy, hypomyelinating, 4
- OMIM:610532 Leukodystrophy, hypomyelinating, 5
- 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:616140 Leukodystrophy, hypomyelinating, 9
- OMIM:617762 Leukodystrophy, progressive, early childhood-onset
- OMIM:615651 Leukoencephalopathy with ataxia
- ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts
- ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- OMIM:611105 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- ORPHA:542310 Leukoencephalopathy with calcifications and cysts
- OMIM:613724 Leukoencephalopathy with dystonia and motor neuropathy
- OMIM:300660 Leukoencephalopathy with metaphyseal chondrodysplasia
- OMIM:603896 Leukoencephalopathy with vanishing white matter
- OMIM:618384 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
- OMIM:614561 Leukoencephalopathy, brain calcifications, and cysts
- OMIM:612951 Leukoencephalopathy, cystic, without megalencephaly
- OMIM:618877 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
- OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids
- OMIM:619661 Leukoencephalopathy, hereditary diffuse, with spheroids 2
- OMIM:618878 Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- OMIM:615889 Leukoencephalopathy, progressive, with ovarian failure
- ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome
- ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- OMIM:246500 Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis
- ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- ORPHA:2387 Leukonychia totalis
- OMIM:614037 Leukotriene C4 synthase deficiency
- ORPHA:755 Leydig cell hypoplasia
- ORPHA:65285 Lhermitte-Duclos disease
- OMIM:619189 Li-Campeau syndrome
- ORPHA:524 Li-Fraumeni syndrome
- OMIM:609265 Li-Fraumeni syndrome 2
- OMIM:618974 Li-Ghorgani-Weisz-Hubshman syndrome
- OMIM:618729 Liang-Wang syndrome
- OMIM:618889 Liberfarb syndrome
- OMIM:616291 Lichtenstein-Knorr syndrome
- ORPHA:99812 LIG4 syndrome
- OMIM:606593 Lig4 syndrome
- ORPHA:2369 Limb body wall complex
- OMIM:246555 Limb defects, distal transverse, with mental retardation and spasticity
- OMIM:609115 Limb-girdle muscular dystrophy, type 1G
- ORPHA:171673 Limbal stem cell deficiency
- ORPHA:220402 Limited cutaneous systemic sclerosis
- 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:2611 Linear verrucous nevus syndrome
- OMIM:255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- OMIM:151660 Lipodystrophy, familial partial, type 2
- OMIM:613877 Lipodystrophy, familial partial, type 4
- 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:530 Lipoid proteinosis
- OMIM:151800 Lipomatosis, familial benign cervical
- ORPHA:69078 Liposarcoma
- OMIM:616299 Lipoyltransferase 1 deficiency
- OMIM:607432 Lissencephaly 1
- OMIM:618873 Lissencephaly 10
- OMIM:257320 Lissencephaly 2
- OMIM:611603 Lissencephaly 3
- OMIM:614019 Lissencephaly 4
- OMIM:615191 Lissencephaly 5
- OMIM:616212 Lissencephaly 6, with microcephaly
- OMIM:616342 Lissencephaly 7 with cerebellar hypoplasia
- OMIM:617255 Lissencephaly 8
- OMIM:618325 Lissencephaly 9 with complex brainstem malformation
- ORPHA:95232 Lissencephaly due to LIS1 mutation
- ORPHA:171680 Lissencephaly due to TUBA1A mutation
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation
- ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome
- OMIM:300067 Lissencephaly, X-linked, 1
- OMIM:300215 Lissencephaly, X-linked, 2
- ORPHA:533 Listeriosis
- OMIM:152420 Lithium transport
- ORPHA:542643 Livedoid vasculopathy
- OMIM:619991 Liver disease, severe congenital
- OMIM:613070 Liver failure, infantile, transient
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:79400 Localized epidermolysis bullosa simplex
- ORPHA:90289 Localized scleroderma
- ORPHA:2406 Locked-in 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
- OMIM:616249 Long QT syndrome 15
- OMIM:618447 Long QT syndrome 8
- OMIM:617435 Lopes-Maciel-Rodan syndrome
- OMIM:309000 Lowe syndrome
- ORPHA:276435 Lower motor neuron syndrome with late-adult onset
- 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
- ORPHA:319213 Lujo hemorrhagic fever
- ORPHA:83628 LUMBAR syndrome
- ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:619460 Luo-Schoch-Yamamoto syndrome
- OMIM:616831 Luscan-Lumish syndrome
- ORPHA:91546 Lyme disease
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- ORPHA:538 Lymphangioleiomyomatosis
- ORPHA:2035 Lymphatic filariasis
- OMIM:152900 Lymphedema and cerebral arteriovenous anomaly
- OMIM:601927 Lymphedema, cardiac septal defects, and characteristic facies
- OMIM:616843 Lymphedema, hereditary, III
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:153400 Lymphedema-Distichiasis syndrome
- OMIM:615122 Lymphoproliferative syndrome 2
- OMIM:308240 Lymphoproliferative syndrome, X-linked, 1
- ORPHA:144 Lynch syndrome
- OMIM:247950 Lysine malabsorption syndrome
- ORPHA:470 Lysinuric protein intolerance
- OMIM:222700 Lysinuric protein intolerance
- ORPHA:275761 Lysosomal acid lipase deficiency
Code pathologie
Nom de la pathologie
- OMIM:247990 Macdermot-Winter syndrome
- OMIM:606369 Macrocephaly and epileptic encephalopathy
- OMIM:618286 Macrocephaly, acquired, with impaired intellectual development
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- OMIM:153470 Macrocephaly, benign familial
- OMIM:617011 Macrocephaly, dysmorphic facies, and psychomotor retardation
- OMIM:619769 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
- ORPHA:397612 Macrocephaly-developmental delay syndrome
- 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:248000 Macrocephaly/megalencephaly syndrome, autosomal recessive
- OMIM:153600 Macroglobulinemia, Waldenstrom, somatic
- ORPHA:158061 Macrophage activation syndrome
- OMIM:248100 Macrosomia adiposa congenita
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:98969 Macular corneal dystrophy
- OMIM:608895 Macular degeneration, age-related, 3
- OMIM:217800 Macular dystrophy, corneal, 1
- OMIM:169150 Macular dystrophy, patterned, 1
- OMIM:608161 Macular dystrophy, vitelliform, 3
- ORPHA:79457 Maculopapular cutaneous mastocytosis
- ORPHA:137867 Madras motor neuron disease
- ORPHA:163634 Maffucci syndrome
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- ORPHA:77297 Majeed syndrome
- OMIM:125480 Major affective disorder 1
- OMIM:309200 Major affective disorder 2
- OMIM:608516 Major depressive disorder
- ORPHA:210272 Mal de débarquement
- ORPHA:420179 Malan overgrowth syndrome
- OMIM:614753 Malan syndrome
- ORPHA:673 Malaria
- ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation
- ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation
- OMIM:602248 Malignant atrophic papulosis
- ORPHA:679 Malignant atrophic papulosis
- OMIM:248360 Malonyl-CoA decarboxylase deficiency
- OMIM:212112 Malouf syndrome
- ORPHA:397941 MAN1B1-CDG
- OMIM:610536 Mandibulofacial dysostosis, Guion-Almeida type
- ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome
- ORPHA:306682 Manganese poisoning
- OMIM:248510 Mannosidosis, beta
- ORPHA:511 Maple syrup urine disease
- OMIM:248600 Maple syrup urine disease
- OMIM:619322 Marbach-Rustad progeroid syndrome
- OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome
- ORPHA:99826 Marburg hemorrhagic fever
- ORPHA:221074 Marchiafava-Bignami disease
- ORPHA:91412 Marcus-Gunn syndrome
- ORPHA:2461 Marden-Walker syndrome
- OMIM:248700 Marden-Walker syndrome
- OMIM: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: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:147430 Marsili syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:619420 Martsolf syndrome 2
- OMIM:303350 MASA syndrome
- ORPHA:2466 MASA syndrome
- OMIM:604308 Mass syndrome
- OMIM:248900 Mast syndrome
- ORPHA:98292 Mastocytosis
- 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:225 Maternally-inherited diabetes and deafness
- ORPHA:2470 Matthew-Wood syndrome
- OMIM:155000 Maxillofacial dysostosis
- ORPHA:562 McCune-Albright syndrome
- OMIM:174800 McCune-Albright syndrome, somatic, mosaic
- ORPHA:2471 McDonough syndrome
- ORPHA:2473 McKusick-Kaufman syndrome
- OMIM:236700 Mckusick-Kaufman syndrome
- OMIM:300842 Mcleod syndrome
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:615397 Meckel syndrome 11
- OMIM:616258 Meckel syndrome 12
- OMIM:617562 Meckel syndrome 13
- OMIM:619879 Meckel syndrome 14
- OMIM:607361 Meckel syndrome 3
- OMIM:614175 Meckel syndrome, type 10
- OMIM:603194 Meckel syndrome, type 2
- OMIM:611134 Meckel syndrome, type 4
- OMIM:611561 Meckel syndrome, type 5
- OMIM:612284 Meckel syndrome, type 6
- OMIM:267010 Meckel syndrome, type 7
- OMIM:613885 Meckel syndrome, type 8
- OMIM:614209 Meckel syndrome, type 9
- ORPHA:70588 Meconium aspiration syndrome
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- ORPHA:171851 MEDNIK syndrome
- ORPHA:1332 Medullary thyroid carcinoma
- OMIM:155255 MEDULLOBLASTOMA
- ORPHA:616 Medulloblastoma
- OMIM:122100 Meesmann corneal dystrophy 1
- OMIM:618767 Meesmann corneal dystrophy 2
- OMIM:300989 Meester-Loeys syndrome
- OMIM:618273 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- OMIM:619365 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
- OMIM:604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
- OMIM:613925 Megalencephalic leukoencephalopathy with subcortical cysts 2A
- OMIM:613926 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
- ORPHA:2477 Megalencephaly
- OMIM:155350 MEGALENCEPHALY
- OMIM:249240 Megalencephaly with dysmyelination
- ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- OMIM:603387 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- OMIM:615937 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
- OMIM:615938 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
- ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- OMIM:261100 Megaloblastic anemia 1
- OMIM:613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
- 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
- OMIM:155755 Melanoma-Astrocytoma syndrome
- ORPHA:550 MELAS
- ORPHA:31202 Melioidosis
- ORPHA:2483 Melkersson-Rosenthal syndrome
- OMIM:155900 Melkersson-Rosenthal syndrome
- OMIM:309350 Melnick-Needles syndrome
- ORPHA:2485 Melorheostosis
- OMIM:300960 Mend syndrome
- ORPHA:401973 MEND syndrome
- ORPHA:2495 Meningioma
- OMIM:607174 Meningioma, familial, susceptibility to
- ORPHA:33475 Meningococcal meningitis
- OMIM:618332 Menke-Hennekam syndrome 1
- OMIM:618333 Menke-Hennekam syndrome 2
- ORPHA:565 Menkes disease
- OMIM:309400 Menkes disease
- OMIM:156190 Mental and growth retardation with amblyopia
- OMIM:616789 Mental retardation and distinctive facial features with or without cardiac defects
- OMIM:300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
- OMIM:309480 Mental retardation associated with psoriasis
- 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:309555 Mental retardation with optic atrophy, deafness, and seizures
- OMIM:609037 Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature
- OMIM:309560 Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
- OMIM:613671 Mental retardation, anterior maxillary protrusion, and strabismus
- OMIM:156200 Mental retardation, autosomal dominant 1
- OMIM:614256 Mental retardation, autosomal dominant 10
- OMIM:615074 Mental retardation, autosomal dominant 18
- OMIM:614113 Mental retardation, autosomal dominant 2
- OMIM:616078 Mental retardation, autosomal dominant 29
- OMIM:616158 Mental retardation, autosomal dominant 31
- OMIM:616351 Mental retardation, autosomal dominant 34
- OMIM:616355 Mental retardation, autosomal dominant 35
- OMIM:616362 Mental retardation, autosomal dominant 36
- OMIM:616521 Mental retardation, autosomal dominant 39
- OMIM:612581 Mental retardation, autosomal dominant 4
- OMIM:616944 Mental retardation, autosomal dominant 41
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:617061 Mental retardation, autosomal dominant 44
- OMIM:617635 Mental retardation, autosomal dominant 47
- OMIM:617752 Mental retardation, autosomal dominant 49
- OMIM:617787 Mental retardation, autosomal dominant 50
- OMIM:617831 Mental retardation, autosomal dominant 55, with seizures
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:614104 Mental retardation, autosomal dominant 7
- OMIM:614255 Mental retardation, autosomal dominant 9
- OMIM:611096 Mental retardation, autosomal recessive 10
- OMIM:611097 Mental retardation, autosomal recessive 11
- OMIM:611090 Mental retardation, autosomal recessive 12
- OMIM:614208 Mental retardation, autosomal recessive 16
- OMIM:614249 Mental retardation, autosomal recessive 18
- OMIM:614343 Mental retardation, autosomal recessive 19
- OMIM:614344 Mental retardation, autosomal recessive 23
- OMIM:614346 Mental retardation, autosomal recessive 25
- OMIM:614340 Mental retardation, autosomal recessive 27
- OMIM:614347 Mental retardation, autosomal recessive 28
- OMIM:614333 Mental retardation, autosomal recessive 29
- OMIM:614342 Mental retardation, autosomal recessive 30
- OMIM:614329 Mental retardation, autosomal recessive 31
- OMIM:614341 Mental retardation, autosomal recessive 33
- OMIM:614499 Mental retardation, autosomal recessive 34, with variant lissencephaly
- OMIM:615162 Mental retardation, autosomal recessive 35
- OMIM:615516 Mental retardation, autosomal recessive 38
- OMIM:615541 Mental retardation, autosomal recessive 39
- OMIM:616193 Mental retardation, autosomal recessive 47
- OMIM:616269 Mental retardation, autosomal recessive 48
- OMIM:616460 Mental retardation, autosomal recessive 50
- OMIM:616739 Mental retardation, autosomal recessive 51
- OMIM:616887 Mental retardation, autosomal recessive 52
- OMIM:616917 Mental retardation, autosomal recessive 53
- OMIM:617125 Mental retardation, autosomal recessive 56
- OMIM:617188 Mental retardation, autosomal recessive 57
- OMIM:617270 Mental retardation, autosomal recessive 58
- OMIM:611092 Mental retardation, autosomal recessive 6
- OMIM:618221 Mental retardation, autosomal recessive 66
- 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:609438 Mental retardation, keratoconus, febrile seizures, and sinoatrialblock
- OMIM:601352 Mental retardation, microcephaly, epilepsy, and coarse face
- 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:309530 Mental retardation, X-linked 1
- OMIM:300923 Mental retardation, X-linked 100
- OMIM:300928 Mental retardation, X-linked 101
- OMIM:300982 Mental retardation, X-linked 103
- OMIM:300983 Mental retardation, X-linked 104
- OMIM:300984 Mental retardation, X-linked 105
- OMIM:300997 Mental retardation, X-linked 106
- OMIM:301013 Mental retardation, X-linked 107
- OMIM:300957 Mental retardation, X-linked 12/35
- OMIM:300062 Mental retardation, X-linked 14
- OMIM:300844 Mental retardation, X-linked 19
- OMIM:300428 Mental retardation, X-linked 2
- OMIM:300047 Mental retardation, X-linked 20
- OMIM:300143 Mental retardation, X-linked 21
- OMIM:300046 Mental retardation, X-linked 23
- OMIM:300558 Mental retardation, X-linked 30
- OMIM:300849 Mental retardation, X-linked 41
- OMIM:300498 Mental retardation, X-linked 45
- OMIM:300436 Mental retardation, X-linked 46
- OMIM:300115 Mental retardation, X-linked 50
- OMIM:300324 Mental retardation, X-linked 53
- OMIM:300210 Mental retardation, X-linked 58
- OMIM:300387 Mental retardation, X-linked 63
- OMIM:300271 Mental retardation, X-linked 72
- OMIM:300355 Mental retardation, X-linked 73
- OMIM:300433 Mental retardation, X-linked 81
- OMIM:300505 Mental retardation, X-linked 84
- OMIM:300848 Mental retardation, X-linked 89
- OMIM:309549 Mental retardation, X-linked 9
- OMIM:300850 Mental retardation, X-linked 90
- OMIM:300577 Mental retardation, X-linked 91
- OMIM:300851 Mental retardation, X-linked 92
- OMIM:300659 Mental retardation, X-linked 93
- OMIM:300699 Mental retardation, X-linked 94
- OMIM:300716 Mental retardation, X-linked 95
- OMIM:300802 Mental retardation, X-linked 96
- 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:300858 Mental retardation, X-linked, syndromic 17
- OMIM:300886 Mental retardation, X-linked, syndromic 32
- 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:300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type
- OMIM:300423 Mental retardation, X-linked, syndromic, Hedera type
- OMIM:301008 Mental retardation, X-linked, syndromic, Houge type
- OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- OMIM:300860 Mental retardation, X-linked, syndromic, Nascimento type
- OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type
- OMIM:300706 Mental retardation, x-linked, syndromic, Turner type
- OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
- OMIM:300123 Mental retardation, X-linked, with isolated growth hormone deficiency
- OMIM:300419 Mental retardation, X-linked, with or without seizures, arx-related
- ORPHA:508093 MEPAN syndrome
- OMIM:156220 Meralgia paraesthetica, familial
- OMIM:249650 Mercaptolactate-Cysteine disulfiduria
- ORPHA:330021 Mercury poisoning
- ORPHA:551 MERRF
- OMIM:249660 Mesangial sclerosis, diffuse renal, with ocular abnormalities
- OMIM:249670 Mesoaxial hexadactyly and cardiac malformation
- ORPHA:2633 Mesomelic dysplasia, Nievergelt type
- OMIM:605274 Mesomelic dysplasia, Savarirayan type
- ORPHA:85170 Mesomelic dysplasia, Savarirayan type
- OMIM:618416 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
- OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- ORPHA:2499 Metachondromatosis
- OMIM:250100 Metachromatic leukodystrophy
- ORPHA:512 Metachromatic leukodystrophy
- OMIM:249900 Metachromatic leukodystrophy due to saposin B deficiency
- ORPHA:309271 Metachromatic leukodystrophy, adult form
- OMIM:156310 Metachromatic leukodystrophy, adult-onset, with normal arylsulfatasea
- ORPHA:309263 Metachromatic leukodystrophy, juvenile form
- ORPHA:309256 Metachromatic leukodystrophy, late infantile form
- OMIM:250215 Metaphyseal acroscyphodysplasia
- ORPHA:1240 Metaphyseal acroscyphodysplasia
- 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:250500 Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia
- ORPHA:2635 Metatropic dysplasia
- OMIM:156530 Metatropic dysplasia
- ORPHA:31825 Methanol poisoning
- OMIM:250800 Methemoglobinemia due to deficiency of methemoglobin reductase
- OMIM:250850 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
- OMIM:250900 Methionine malabsorption syndrome
- ORPHA:2169 Methylcobalamin deficiency type cblE
- OMIM:614105 Methylmalonate semialdehyde dehydrogenase deficiency
- OMIM:309541 Methylmalonic acidemia and homocysteinemia, Cblx type
- ORPHA: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:277410 Methylmalonic aciduria and homocystinuria, Cbld type
- OMIM:277380 Methylmalonic aciduria and homocystinuria, Cblf type
- OMIM:614857 Methylmalonic aciduria and homocystinuria, Cblj type
- OMIM:251000 Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
- OMIM:251100 Methylmalonic aciduria, Cbla type
- OMIM: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
- OMIM:618564 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
- 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:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency
- 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
- OMIM:615095 Microcephaly 10, primary, autosomal recessive
- OMIM:615414 Microcephaly 11, primary, autosomal recessive
- OMIM:616080 Microcephaly 12, primary, autosomal recessive
- OMIM:616051 Microcephaly 13, primary, autosomal recessive
- OMIM:616402 Microcephaly 14, primary, autosomal recessive
- OMIM:616681 Microcephaly 16, primary, autosomal recessive
- OMIM:617090 Microcephaly 17, primary, autosomal recessive
- OMIM:617520 Microcephaly 18, primary, autosomal dominant
- 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:618179 Microcephaly 24, primary, autosomal recessive
- OMIM:618351 Microcephaly 25, primary, autosomal recessive
- OMIM:619179 Microcephaly 26, primary, autosomal dominant
- OMIM:619180 Microcephaly 27, primary, autosomal dominant
- OMIM:619453 Microcephaly 28, primary, autosomal recessive
- OMIM:620047 Microcephaly 29, primary, autosomal recessive
- OMIM:604804 Microcephaly 3, primary, autosomal recessive
- OMIM:604321 Microcephaly 4, primary, autosomal recessive
- OMIM:608716 Microcephaly 5, primary, autosomal recessive
- OMIM:612703 Microcephaly 7, primary, autosomal recessive
- OMIM:614673 Microcephaly 8, primary, autosomal recessive
- OMIM:614852 Microcephaly 9, primary, autosomal recessive
- OMIM:251270 Microcephaly and chorioretinopathy, autosomal recessive, 1
- OMIM:616171 Microcephaly and chorioretinopathy, autosomal recessive, 2
- OMIM:616335 Microcephaly and chorioretinopathy, autosomal recessive, 3
- OMIM:251250 Microcephaly with cervical spine fusion anomalies
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:152950 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
- OMIM:607196 Microcephaly, Amish type
- 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:601355 Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs
- OMIM:601420 Microcephaly, corpus callosum dysgenesis, and cleft lip/palate
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome
- OMIM:619278 Microcephaly, epilepsy, and diabetes syndrome 2
- OMIM: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:608393 Microcephaly, primary autosomal recessive, 6
- OMIM:615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
- OMIM:613402 Microcephaly, seizures, and developmental delay
- 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:2513 Microcephaly-albinism-digital anomalies syndrome
- ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome
- ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome
- OMIM:614261 Microcephaly-Capillary malformation syndrome
- ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome
- OMIM:251220 MICROCEPHALY-CARDIOMYOPATHY
- ORPHA:2515 Microcephaly-cardiomyopathy syndrome
- ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome
- ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
- ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
- ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
- ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome
- ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome
- ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type
- OMIM:251230 Microcephaly-Micromelia syndrome
- ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
- ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
- ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability 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:1083 Microlissencephaly
- ORPHA:50810 Microlissencephaly-micromelia syndrome
- ORPHA:139471 Microphthalmia with brain and digit anomalies
- OMIM:607597 Microphthalmia with cyst, bilateral facial clefts, and limb anomalies
- OMIM:206920 Microphthalmia with limb anomalies
- ORPHA:1106 Microphthalmia with limb anomalies
- ORPHA:2556 Microphthalmia with linear skin defects syndrome
- OMIM:610093 Microphthalmia, isolated 2
- OMIM:611040 Microphthalmia, isolated 5
- OMIM:615113 Microphthalmia, isolated 8
- OMIM:611638 Microphthalmia, isolated, with coloboma 5
- OMIM:615145 Microphthalmia, isolated, with coloboma 9
- ORPHA:568 Microphthalmia, Lenz type
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:614402 Microphthalmia, syndromic 11
- OMIM:615524 Microphthalmia, syndromic 12
- 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:601349 Microphthalmia, syndromic 8
- OMIM:601186 Microphthalmia, syndromic 9
- ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome
- ORPHA:77299 Microphthalmia-brain atrophy syndrome
- OMIM:615877 Microphthalmia/coloboma and skeletal dysplasia syndrome
- ORPHA:727 Microscopic polyangiitis
- ORPHA:2552 Microsporidiosis
- ORPHA:83463 Microtia
- OMIM:600674 MICROTIA-ANOTIA
- ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- ORPHA:289522 Microtriplication 11q24.1
- ORPHA:2290 Microvillus inclusion disease
- ORPHA:100084 Middle ear neuroendocrine tumor
- 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
- OMIM:601016 Midline malformations, multiple, with limb abnormalities and hypopituitarism
- ORPHA:2557 Mietens syndrome
- OMIM:157300 Migraine with or without aura, susceptibility to, 1
- OMIM:610208 Migraine with or without aura, susceptibility to, 10
- OMIM:610209 Migraine with or without aura, susceptibility to, 11
- OMIM:611706 Migraine with or without aura, susceptibility to, 12
- OMIM:607498 Migraine with or without aura, susceptibility to, 3
- OMIM:607508 Migraine with or without aura, susceptibility to, 5
- OMIM:607516 Migraine with or without aura, susceptibility to, 6
- OMIM:607501 Migraine without aura, susceptibility to, 4
- OMIM:141500 Migraine, familial hemiplegic, 1
- OMIM:602481 Migraine, familial hemiplegic, 2
- OMIM:609634 Migraine, familial hemiplegic, 3
- OMIM:300125 Migraine, familial typical, susceptibility to, 2
- OMIM:613656 Migraine, with or without aura, susceptibility to, 13
- ORPHA:314918 Mild Canavan disease
- ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:531 Miller-Dieker syndrome
- ORPHA:79452 Milroy disease
- OMIM:255320 Minicore myopathy with external ophthalmoplegia
- OMIM:617053 Mirage syndrome
- OMIM:157600 Mirror movements 1
- OMIM:614508 Mirror movements 2
- OMIM:616059 Mirror movements 3
- OMIM:618264 Mirror movements 4
- OMIM:276300 Mismatch repair cancer syndrome 1
- OMIM:619096 Mismatch repair cancer syndrome 2
- OMIM:619097 Mismatch repair cancer syndrome 3
- OMIM:619101 Mismatch repair cancer syndrome 4
- OMIM:618960 Mitchell syndrome
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618233 Mitochondrial complex I deficiency, nuclear type 10
- OMIM:618234 Mitochondrial complex I deficiency, nuclear type 11
- OMIM:301020 Mitochondrial complex I deficiency, nuclear type 12
- OMIM:618235 Mitochondrial complex I deficiency, nuclear type 13
- OMIM:618236 Mitochondrial complex I deficiency, nuclear type 14
- OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15
- OMIM:618238 Mitochondrial complex I deficiency, nuclear type 16
- OMIM:618239 Mitochondrial complex I deficiency, nuclear type 17
- OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18
- OMIM:618241 Mitochondrial complex I deficiency, nuclear type 19
- OMIM:618222 Mitochondrial complex I deficiency, nuclear type 2
- OMIM:611126 Mitochondrial complex I deficiency, nuclear type 20
- OMIM:618242 Mitochondrial complex I deficiency, nuclear type 21
- OMIM: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:618247 Mitochondrial complex I deficiency, nuclear type 26
- OMIM:618248 Mitochondrial complex I deficiency, nuclear type 27
- OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28
- OMIM:618250 Mitochondrial complex I deficiency, nuclear type 29
- OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3
- 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:619170 Mitochondrial complex I deficiency, nuclear type 36
- OMIM:619272 Mitochondrial complex I deficiency, nuclear type 37
- OMIM:620135 Mitochondrial complex I deficiency, nuclear type 39
- OMIM:618225 Mitochondrial complex I deficiency, nuclear type 4
- OMIM: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:618230 Mitochondrial complex I deficiency, nuclear type 8
- OMIM:618232 Mitochondrial complex I deficiency, nuclear type 9
- OMIM:252011 Mitochondrial complex II deficiency
- OMIM:619166 Mitochondrial complex II deficiency, nuclear type 2
- OMIM:619167 Mitochondrial complex II deficiency, nuclear type 3
- OMIM:619224 Mitochondrial complex II deficiency, nuclear type 4
- OMIM:124000 Mitochondrial complex III deficiency, nuclear type 1
- OMIM:618775 Mitochondrial complex III deficiency, nuclear type 10
- OMIM:620137 Mitochondrial complex III deficiency, nuclear type 11
- OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2
- OMIM:615158 Mitochondrial complex III deficiency, nuclear type 3
- OMIM:615159 Mitochondrial complex III deficiency, nuclear type 4
- 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:619053 Mitochondrial complex IV deficiency, nuclear type 10
- 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:619061 Mitochondrial complex IV deficiency, nuclear type 17
- OMIM:619063 Mitochondrial complex IV deficiency, nuclear type 19
- OMIM:604377 Mitochondrial complex IV deficiency, nuclear type 2
- OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 20
- OMIM:619065 Mitochondrial complex IV deficiency, nuclear type 21
- OMIM:619355 Mitochondrial complex IV deficiency, nuclear type 22
- OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3
- OMIM:619048 Mitochondrial complex IV deficiency, nuclear type 4
- OMIM:615119 Mitochondrial complex IV deficiency, nuclear type 6
- 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:614053 Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
- OMIM:615228 Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
- OMIM:618683 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6
- OMIM:603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
- OMIM:617184 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
- OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type)
- OMIM:619425 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)
- OMIM:618567 Mitochondrial DNA depletion syndrome 17
- OMIM:618811 Mitochondrial DNA depletion syndrome 18
- OMIM:618972 Mitochondrial DNA depletion syndrome 19
- OMIM:609560 Mitochondrial DNA depletion syndrome 2 (myopathic type)
- OMIM:619780 Mitochondrial DNA depletion syndrome 20 (MNGIE type)
- OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- OMIM:203700 Mitochondrial DNA depletion syndrome 4A (Alpers type)
- OMIM: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:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- OMIM:612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- OMIM:245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
- ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form
- ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome
- ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss
- ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia
- OMIM:500013 Mitochondrial form of axonal Charcot-Marie-Tooth disease-1
- ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration
- ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia
- OMIM:500002 Mitochondrial myopathy with diabetes
- OMIM:251950 Mitochondrial myopathy with lactic acidosis
- ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- OMIM:540000 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
- OMIM:251900 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
- OMIM:500009 Mitochondrial myopathy, infantile, transient
- ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- OMIM:614741 Mitochondrial pyruvate carrier deficiency
- OMIM:616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
- OMIM:609015 Mitochondrial trifunctional protein deficiency
- ORPHA:746 Mitochondrial trifunctional protein deficiency
- ORPHA:809 Mixed connective tissue disease
- OMIM:254130 Miyoshi muscular dystrophy 1
- ORPHA:45448 Miyoshi myopathy
- ORPHA:3434 MMEP syndrome
- ORPHA:178145 Moderate multiminicore disease with hand involvement
- OMIM:309840 Modifier, X-linked, for neurofunctional defects
- OMIM:157900 Moebius syndrome
- ORPHA:570 Moebius syndrome
- ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- ORPHA:79330 MOGS-CDG
- OMIM:252100 Mohr syndrome
- ORPHA:52368 Mohr-Tranebjaerg syndrome
- OMIM:304700 Mohr-Tranebjaerg syndrome
- OMIM:252150 Molybdenum cofactor deficiency, complementation group A
- OMIM:252160 Molybdenum cofactor deficiency, complementation group B
- OMIM:615501 Molybdenum cofactor deficiency, complementation group C
- OMIM:157980 MOMO syndrome
- ORPHA:2563 MOMO syndrome
- ORPHA:573 Monilethrix
- ORPHA:3057 Monoamine oxidase A deficiency
- OMIM:616095 Monocarboxylate transporter 1 deficiency
- ORPHA:65684 Monomelic amyotrophy
- OMIM:613353 Mononeuropathy of the median nerve, mild
- ORPHA:1587 Monosomy 13q14
- ORPHA:96168 Monosomy 13q34
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:281 Monosomy 5p
- ORPHA:261112 Monosomy 9p
- 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:1692 Mosaic trisomy 1
- ORPHA:1703 Mosaic trisomy 14
- ORPHA:1706 Mosaic trisomy 15
- ORPHA:1708 Mosaic trisomy 16
- ORPHA:1724 Mosaic trisomy 20
- ORPHA:96061 Mosaic trisomy 8
- ORPHA:99776 Mosaic trisomy 9
- OMIM:158280 Motion sickness
- 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
- ORPHA:2573 Moyamoya disease
- OMIM:607151 Moyamoya disease 2, susceptibility to
- OMIM:300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism
- OMIM:614042 Moyamoya disease 5
- OMIM:615750 Moyamoya disease 6 with achalasia
- ORPHA:401945 Moyamoya disease with early-onset achalasia
- ORPHA:2574 Moynahan syndrome
- ORPHA:79323 MPDU1-CDG
- ORPHA:79319 MPI-CDG
- ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis
- ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia
- ORPHA:575 Muckle-Wells syndrome
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- OMIM:252500 Mucolipidosis II alpha/beta
- OMIM:252600 Mucolipidosis III alpha/beta
- OMIM:252605 Mucolipidosis III gamma
- OMIM:252650 Mucolipidosis IV
- ORPHA:576 Mucolipidosis type II
- ORPHA:577 Mucolipidosis type III
- ORPHA:578 Mucolipidosis type IV
- OMIM:252700 Mucopolysaccharidoses, unclassified types
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- ORPHA:582 Mucopolysaccharidosis type 4
- ORPHA:583 Mucopolysaccharidosis type 6
- ORPHA:584 Mucopolysaccharidosis type 7
- OMIM:252900 Mucopolysaccharidosis type IIIA
- OMIM:252920 Mucopolysaccharidosis type IIIB
- OMIM:252930 Mucopolysaccharidosis type IIIC
- OMIM:253010 Mucopolysaccharidosis type IVB (Morquio)
- OMIM:253220 Mucopolysaccharidosis VII
- OMIM:252940 Mucopolysaccharidosis, type IIID
- OMIM:253200 Mucopolysaccharidosis, type VI
- ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- OMIM:617303 Mucopolysaccharidosis-Plus syndrome
- ORPHA:566943 Mueller-Weiss syndrome
- ORPHA:53271 Muenke syndrome
- OMIM:602849 Muenke syndrome
- OMIM:617352 Mulchandani-Bhoj-Conlin syndrome
- OMIM:253250 Mulibrey nanism
- ORPHA:2576 Mulibrey nanism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- OMIM:601076 Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies
- ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy
- OMIM:166300 Multicentric carpotarsal osteolysis syndrome
- OMIM:259600 Multicentric osteolysis, nodulosis, and arthropathy
- ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum
- OMIM:253320 Multicore myopathy with mental retardation, short stature, and hypogonadotropichypogonadism
- ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- ORPHA:641 Multifocal motor neuropathy
- OMIM:236500 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- OMIM:231680 Multiple acyl-CoA-dehydrogenase deficiency
- ORPHA:2505 Multiple benign circumferential skin creases on limbs
- ORPHA:148 Multiple carboxylase deficiency
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- OMIM:614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1
- OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- OMIM:131100 Multiple endocrine neoplasia 1
- ORPHA:652 Multiple endocrine neoplasia type 1
- ORPHA:653 Multiple endocrine neoplasia type 2
- ORPHA:276152 Multiple endocrine neoplasia type 4
- OMIM:171400 Multiple endocrine neoplasia, type IIA
- OMIM:162300 Multiple endocrine neoplasia, type IIB
- OMIM:610755 Multiple endocrine neoplasia, type IV
- 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
- OMIM:158345 Multiple exostoses with spastic tetraparesis
- 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:614299 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
- OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3
- OMIM:616370 Multiple mitochondrial dysfunctions syndrome 4
- 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:126200 Multiple sclerosis, susceptibility to
- ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- ORPHA:2398 Multiple symmetric lipomatosis
- OMIM:186500 Multiple synostoses syndrome 1
- ORPHA:102 Multiple system atrophy
- OMIM:146500 Multiple system atrophy 1, susceptibility to
- ORPHA:227510 Multiple system atrophy, cerebellar type
- ORPHA:98933 Multiple system atrophy, parkinsonian type
- OMIM:613834 Multisystemic smooth muscle dysfunction syndrome
- OMIM:611376 Mungan syndrome
- OMIM:614160 Muscle hypertrophy
- ORPHA:588 Muscle-eye-brain disease
- ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- OMIM:158500 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
- OMIM:158650 Muscular atrophy, malignant neurogenic
- ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- OMIM:253590 Muscular dystrophy, adult-onset, with leukoencephalopathy
- OMIM:300376 Muscular dystrophy, Becker type
- OMIM:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:604801 Muscular dystrophy, congenital, 1B
- OMIM:617066 Muscular dystrophy, congenital, Davignon-Chauveau type
- OMIM:613204 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
- OMIM:613205 Muscular dystrophy, congenital, lmna-related
- OMIM:602541 Muscular dystrophy, congenital, Megaconial type
- OMIM:607855 Muscular dystrophy, congenital, merosin deficient or partially deficient
- OMIM:609456 Muscular dystrophy, congenital, merosin-positive
- OMIM:617404 Muscular dystrophy, congenital, with cataracts and intellectual disability
- OMIM:608423 Muscular dystrophy, limb-girdle, autosomal dominant 2
- OMIM:618129 Muscular dystrophy, limb-girdle, autosomal dominant 4
- OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18
- OMIM:618138 Muscular dystrophy, limb-girdle, autosomal recessive 23
- OMIM:616812 Muscular dystrophy, limb-girdle, autosomal recessive 25
- OMIM:618848 Muscular dystrophy, limb-girdle, autosomal recessive 26
- OMIM:619566 Muscular dystrophy, limb-girdle, autosomal recessive 27
- OMIM:603511 Muscular dystrophy, limb-girdle, type 1E
- OMIM:613530 Muscular dystrophy, limb-girdle, type 1H
- OMIM:253600 Muscular dystrophy, limb-girdle, type 2A
- OMIM:253601 Muscular dystrophy, limb-girdle, type 2B
- OMIM:253700 Muscular dystrophy, limb-girdle, type 2C
- OMIM:608099 Muscular dystrophy, limb-girdle, type 2D
- OMIM:604286 Muscular dystrophy, limb-girdle, type 2E
- OMIM:601287 Muscular dystrophy, limb-girdle, type 2F
- OMIM:601954 Muscular dystrophy, limb-girdle, type 2G
- OMIM:254110 Muscular dystrophy, limb-girdle, type 2H
- OMIM:611307 Muscular dystrophy, limb-girdle, type 2L
- OMIM:613723 Muscular dystrophy, limb-girdle, type 2Q
- OMIM:616827 Muscular dystrophy, limb-girdle, type 2W
- OMIM:310095 Muscular dystrophy, progressive pectorodorsal
- OMIM:600416 Muscular dystrophy, scapulohumeral
- OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
- OMIM:615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
- OMIM:615287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
- OMIM:615350 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
- OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
- OMIM:253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
- OMIM:253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
- OMIM:613153 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
- OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- OMIM:614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
- OMIM:616538 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
- OMIM:615181 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
- OMIM:615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10
- OMIM:613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6
- OMIM:613155 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1
- OMIM:615351 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14
- OMIM:618992 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
- OMIM:613156 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2
- OMIM:613151 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
- OMIM:608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6
- OMIM:606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5
- OMIM:613152 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
- OMIM:609308 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
- OMIM:616094 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12
- OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
- OMIM:612937 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
- OMIM:613158 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
- OMIM:613157 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
- OMIM:611588 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
- OMIM:607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
- OMIM:618135 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
- OMIM:613818 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
- OMIM:254120 Muscular hypertonia, lethal
- ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
- ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- OMIM:254150 Musk, inability to smell
- ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia
- ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan
- OMIM:254200 Myasthenia gravis
- ORPHA:589 Myasthenia gravis
- OMIM:254190 Myasthenia, congenital, refractory to acetylcholinesterase inhibitors
- OMIM:159400 Myasthenia, limb-girdle, autoimmune
- OMIM:254300 Myasthenia, limb-girdle, familial
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:614750 Myasthenic syndrome, congenital, 13, with tubular aggregates
- OMIM:616228 Myasthenic syndrome, congenital, 14
- OMIM:616227 Myasthenic syndrome, congenital, 15
- OMIM:614198 Myasthenic syndrome, congenital, 16
- OMIM:616304 Myasthenic syndrome, congenital, 17
- OMIM:616330 Myasthenic syndrome, congenital, 18
- OMIM:616720 Myasthenic syndrome, congenital, 19
- OMIM:601462 Myasthenic syndrome, congenital, 1A, slow-channel
- OMIM:608930 Myasthenic syndrome, congenital, 1B, fast-channel
- OMIM:617143 Myasthenic syndrome, congenital, 20, presynaptic
- OMIM:617239 Myasthenic syndrome, congenital, 21, presynaptic
- OMIM:616224 Myasthenic syndrome, congenital, 22
- OMIM:618197 Myasthenic syndrome, congenital, 23, presynaptic
- OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic
- OMIM:618323 Myasthenic syndrome, congenital, 25, presynaptic
- OMIM:616313 Myasthenic syndrome, congenital, 2A, slow-channel
- OMIM:616321 Myasthenic syndrome, congenital, 3A, slow-channel
- OMIM:616322 Myasthenic syndrome, congenital, 3B, fast-channel
- OMIM:616323 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
- OMIM:605809 Myasthenic syndrome, congenital, 4A, slow-channel
- OMIM:616324 Myasthenic syndrome, congenital, 4B, fast-channel
- OMIM:608931 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
- OMIM:603034 Myasthenic syndrome, congenital, 5
- OMIM:254210 Myasthenic syndrome, congenital, 6, presynaptic
- OMIM:616040 Myasthenic syndrome, congenital, 7, presynaptic
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- OMIM:615120 Myasthenic syndrome, congenital, 8
- OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
- OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1
- ORPHA:2583 Mycetoma
- OMIM:613796 Mycobacterial and viral infections, susceptibility to, autosomal recessive
- ORPHA:268249 Mycophenolate mofetil embryopathy
- OMIM:159580 Myelopathy, htlv-1-associated
- ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy
- OMIM:139210 Myhre syndrome
- ORPHA:2588 Myhre syndrome
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome
- OMIM:545000 Myoclonic epilepsy associated with ragged-red fibers
- ORPHA:86909 Myoclonic epilepsy of infancy
- OMIM:254780 Myoclonic epilepsy of Lafora
- OMIM:605021 Myoclonic epilepsy, familial infantile
- OMIM:159600 Myoclonic epilepsy, Hartung type
- OMIM:604827 Myoclonic epilepsy, juvenile, 2
- OMIM:254770 Myoclonic epilepsy, juvenile, susceptibility to, 1
- OMIM:611364 Myoclonic epilepsy, juvenile, susceptibility to, 4
- OMIM:310370 Myoclonic epilepsy, progressive
- ORPHA:1942 Myoclonic-astatic epilepsy
- OMIM:616421 Myoclonic-atonic epilepsy
- OMIM:159800 Myoclonus, cerebellar ataxia, and deafness
- OMIM:614937 Myoclonus, familial cortical
- OMIM:618364 Myoclonus, familial, 2
- OMIM:617235 Myoclonus, intractable, neonatal
- ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome
- ORPHA:36899 Myoclonus-dystonia syndrome
- OMIM:619178 Myofibrillar myopathy 11
- OMIM:268200 Myoglobinuria, acute recurrent, autosomal recessive
- ORPHA:536516 Myopathic Ehlers-Danlos syndrome
- ORPHA:2596 Myopathy and diabetes mellitus
- OMIM:254960 Myopathy due to malate-aspartate shuttle defect
- OMIM:615511 Myopathy due to myoadenylate deaminase deficiency
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:620138 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
- OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- OMIM:609500 Myopathy, autophagic vacuolar, infantile-onset
- OMIM:255200 Myopathy, centronuclear, 2
- OMIM:614807 Myopathy, centronuclear, 4
- OMIM:615959 Myopathy, centronuclear, 5
- OMIM:617760 Myopathy, centronuclear, 6, with fiber-type disproportion
- OMIM:160150 Myopathy, centronuclear, autosomal dominant
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:255300 Myopathy, congenital
- OMIM:618823 Myopathy, congenital proximal, with minicore lesions
- OMIM:618654 Myopathy, congenital with structured cores and Z-line abnormalities
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:612540 Myopathy, congenital, compton-north
- OMIM:619967 Myopathy, congenital, nonprogressive
- OMIM:618578 Myopathy, congenital, progressive, with scoliosis
- OMIM:618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- OMIM:618414 Myopathy, congenital, with fast-twitch (type II) fiber atrophy
- 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:618524 Myopathy, congenital, with tremor
- OMIM:610099 Myopathy, distal 3
- OMIM:160500 Myopathy, distal, 1
- OMIM:614065 Myopathy, distal, 4
- OMIM:617030 Myopathy, distal, 5
- OMIM:618655 Myopathy, distal, 6, adult onset
- OMIM:160300 Myopathy, distal, infantile-onset
- OMIM:617158 Myopathy, distal, with rimmed vacuoles
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
- 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:613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- OMIM:601419 Myopathy, myofibrillar, 1
- OMIM:619424 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- OMIM:608810 Myopathy, myofibrillar, 2, mfm2
- OMIM:609452 Myopathy, myofibrillar, 4
- OMIM:612954 Myopathy, myofibrillar, 6
- OMIM:617114 Myopathy, myofibrillar, 7
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:603689 Myopathy, myofibrillar, 9, with early respiratory failure
- OMIM:608358 Myopathy, myosin storage, autosomal dominant
- OMIM:255160 Myopathy, myosin storage, autosomal recessive
- OMIM:605637 Myopathy, proximal, and ophthalmoplegia
- OMIM:300718 Myopathy, reducing body, X-linked, childhood-onset
- OMIM:300717 Myopathy, reducing body, X-linked, early-onset, severe
- OMIM:616852 Myopathy, scapulohumeroperoneal
- OMIM:182920 Myopathy, spheroid body
- OMIM:160565 Myopathy, tubular aggregate, 1
- OMIM:615883 Myopathy, tubular aggregate, 2
- OMIM:616231 Myopathy, vacuolar, with CASQ1 aggregates
- OMIM:310440 Myopathy, X-linked, with excessive autophagy
- OMIM:160700 Myopia 2, autosomal dominant
- OMIM:255600 Myosclerosis, autosomal recessive
- OMIM:609200 MYOTILINOPATHY
- OMIM:255700 Myotonia congenita, autosomal recessive
- ORPHA:99734 Myotonia fluctuans
- ORPHA:99735 Myotonia permanens
- OMIM:255710 Myotonia with skeletal abnormalities and mental retardation
- OMIM:300219 Myotubular myopathy with abnormal genital development
- OMIM:255900 Myxedema
- ORPHA:251643 Myxopapillary ependymoma
Code pathologie
Nom de la pathologie
- ORPHA:2608 N syndrome
- OMIM:310465 N syndrome
- OMIM:614063 N-ACETYLASPARTATE DEFICIENCY
- OMIM:237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
- OMIM:618828 Nabais Sa-de Vries syndrome, type 1
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- OMIM:608156 Nablus mask-like facial syndrome
- ORPHA:245 Nager syndrome
- ORPHA:2614 Nail-patella syndrome
- OMIM:161200 Nail-Patella syndrome
- OMIM:302350 Nance-Horan syndrome
- ORPHA:627 Nance-Horan syndrome
- OMIM:161400 Narcolepsy 1
- OMIM:609039 Narcolepsy 3
- OMIM:614250 Narcolepsy 7
- ORPHA:2073 Narcolepsy type 1
- ORPHA:83465 Narcolepsy type 2
- ORPHA:644 NARP syndrome
- ORPHA:141083 Nasolacrimal duct cyst
- ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome
- ORPHA:2770 Nasu-Hakola disease
- ORPHA:168572 Native American myopathy
- ORPHA:391673 Necrotizing enterocolitis
- ORPHA:199244 Nelson syndrome
- OMIM:609284 Nemaline myopathy 1
- OMIM:616165 Nemaline myopathy 10
- OMIM:617336 Nemaline myopathy 11, autosomal recessive
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- OMIM:161800 Nemaline myopathy 3
- OMIM:609285 Nemaline myopathy 4
- OMIM:605355 Nemaline myopathy 5, Amish type
- OMIM:609273 Nemaline myopathy 6
- OMIM:610687 Nemaline myopathy 7
- OMIM:615348 Nemaline myopathy 8
- OMIM:615731 Nemaline myopathy 9
- ORPHA:44 Neonatal adrenoleukodystrophy
- ORPHA:464370 Neonatal alloimmune neutropenia
- ORPHA:398124 Neonatal lupus erythematosus
- ORPHA:284979 Neonatal Marfan syndrome
- ORPHA:94058 Neovascular glaucoma
- ORPHA:223 Nephrogenic diabetes insipidus
- OMIM:221995 Nephrogenic diabetes insipidus - intracranial calcification
- ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
- OMIM:300539 Nephrogenic syndrome of inappropriate antidiuresis
- OMIM:256100 Nephronophthisis 1
- OMIM:613550 Nephronophthisis 11
- OMIM:614844 Nephronophthisis 14
- OMIM:614845 Nephronophthisis 15
- OMIM:615862 Nephronophthisis 18
- OMIM:604387 Nephronophthisis 3
- OMIM:606966 Nephronophthisis 4
- OMIM:613159 Nephronophthisis-Like nephropathy 1
- OMIM:619468 Nephronophthisis-like nephropathy 2
- OMIM:256150 NEPHROSIALIDOSIS
- OMIM:616730 Nephrotic syndrome, type 11
- OMIM:617575 Nephrotic syndrome, type 14
- OMIM:615244 Nephrotic syndrome, type 8
- 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:2672 Neuhauser-Eichner-Opitz syndrome
- OMIM:601634 Neural tube defects, folate-sensitive
- OMIM:182940 Neural tube defects, susceptibility to
- ORPHA:2901 Neuralgic amyotrophy
- OMIM:256550 Neuraminidase deficiency
- ORPHA:635 Neuroblastoma
- OMIM:256700 Neuroblastoma, susceptibility to
- OMIM:613013 Neuroblastoma, susceptibility to, 2
- OMIM:619869 Neurocardiofaciodigital syndrome
- ORPHA:2481 Neurocutaneous melanocytosis
- OMIM:249400 Neurocutaneous melanosis, somatic
- ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- OMIM:613068 Neurodegeneration due to cerebral folate transport deficiency
- OMIM:619259 Neurodegeneration with ataxia and late-onset optic atrophy
- OMIM:617145 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- ORPHA:385 Neurodegeneration with brain iron accumulation
- OMIM:234200 Neurodegeneration with brain iron accumulation 1
- OMIM:256600 Neurodegeneration with brain iron accumulation 2A
- OMIM:610217 Neurodegeneration with brain iron accumulation 2B
- OMIM:606159 Neurodegeneration with brain iron accumulation 3
- OMIM:614298 Neurodegeneration with brain iron accumulation 4
- OMIM:300894 Neurodegeneration with brain iron accumulation 5
- OMIM:615643 Neurodegeneration with brain iron accumulation 6
- OMIM:617916 Neurodegeneration with brain iron accumulation 7
- OMIM:617917 Neurodegeneration with brain iron accumulation 8
- OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
- OMIM:618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
- OMIM:618868 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
- OMIM:617672 Neurodegeneration, childhood-onset, with brain atrophy
- OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy
- OMIM:620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
- OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive
- ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities
- OMIM:618890 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
- OMIM:618707 Neurodevelopmental disorder with absent language and variable seizures
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
- OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
- OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
- OMIM:615286 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
- OMIM:618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
- OMIM:618590 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
- 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:619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies
- OMIM:619333 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
- OMIM:618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
- OMIM:618572 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
- OMIM:619244 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- OMIM:618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
- OMIM:620083 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- OMIM:619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- OMIM:617755 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
- OMIM:618659 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
- OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
- OMIM:619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
- OMIM:619264 Neurodevelopmental disorder with dysmorphic facies and variable seizures
- 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:619971 Neurodevelopmental disorder with epilepsy and brain atrophy
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- OMIM:618090 Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
- OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- OMIM:618741 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- OMIM:620094 Neurodevelopmental disorder with eye movement abnormalities and ataxia
- OMIM:620075 Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly
- OMIM:615599 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity
- OMIM:619616 Neurodevelopmental disorder with hearing loss and spasticity
- OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
- OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:618879 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
- 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:619383 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain 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:618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- OMIM:617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- OMIM:617268 Neurodevelopmental disorder with hypotonia, seizures, and absent language
- OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
- OMIM:618292 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
- OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
- OMIM:618425 Neurodevelopmental disorder with impaired speech and hyperkinetic movements
- OMIM:619373 Neurodevelopmental disorder with infantile epileptic spasms
- OMIM:619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
- OMIM:617493 Neurodevelopmental disorder with involuntary movements
- OMIM:619908 Neurodevelopmental disorder with language delay and seizure
- OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities
- OMIM:617051 Neurodevelopmental disorder with microcephaly and gray sclerae
- 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:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- OMIM:618730 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
- OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
- OMIM:618367 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
- OMIM:620038 Neurodevelopmental disorder with microcephaly, hypotonia, and absent language
- OMIM:617481 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
- OMIM:619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
- OMIM:619091 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive
- OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant
- OMIM:620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- OMIM:619076 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
- OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- OMIM:619685 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
- OMIM:620027 Neurodevelopmental disorder with microcephaly, short stature, and speech delay
- OMIM:617523 Neurodevelopmental disorder with midbrain and hindbrain malformations
- OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
- OMIM:617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
- OMIM:619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
- OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
- 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:618859 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
- OMIM:619157 Neurodevelopmental disorder with or without early-onset generalized epilepsy
- OMIM:614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
- OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
- OMIM:617864 Neurodevelopmental disorder with or without seizures and gait abnormalities
- OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities
- OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- OMIM:619880 Neurodevelopmental disorder with poor growth and skeletal anomalies
- OMIM:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- OMIM:617903 Neurodevelopmental disorder with poor language and loss of hand skills
- OMIM:616486 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
- OMIM:618088 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
- OMIM:619517 Neurodevelopmental disorder with seizures and brain abnormalities
- OMIM:619072 Neurodevelopmental disorder with seizures and brain atrophy
- OMIM:619323 Neurodevelopmental disorder with seizures and gingival overgrowth
- OMIM:618497 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
- 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:617804 Neurodevelopmental disorder with severe motor impairment and absent language
- OMIM:619972 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:615075 Neurodevelopmental disorder with spastic diplegia and visual defects
- OMIM:617977 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
- OMIM:618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
- OMIM:618076 Neurodevelopmental disorder with spasticity and poor growth
- OMIM:619286 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
- 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:620114 Neurodevelopmental disorder with speech impairment and with or without seizures
- OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
- OMIM:618547 Neurodevelopmental disorder with visual defects and brain anomalies
- OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities
- OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
- OMIM:619653 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
- 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:618914 Neurodevelopmental, jaw, eye, and digital syndrome
- OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- ORPHA:33445 Neuroectodermal melanolysosomal disease
- OMIM:603641 Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
- ORPHA:100079 Neuroendocrine neoplasm of appendix
- ORPHA:100082 Neuroendocrine tumor of anal canal
- ORPHA:100075 Neuroendocrine tumor of stomach
- ORPHA:100080 Neuroendocrine tumor of the colon
- ORPHA:100081 Neuroendocrine tumor of the rectum
- ORPHA:2673 Neurofaciodigitorenal syndrome
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:157846 Neuroferritinopathy
- ORPHA:252183 Neurofibroma
- OMIM:101000 Neurofibromatosis, type II
- OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral
- OMIM:162240 Neurofibromatosis-Pheochromocytoma-Duodenal carcinoid syndrome
- ORPHA:1143 Neurogenic arthrogryposis multiplex congenita
- ORPHA:100073 Neurogenic thoracic outlet syndrome
- ORPHA:94093 Neuroleptic malignant syndrome
- OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency
- OMIM:618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures
- ORPHA:71211 Neuromyelitis optica spectrum disorder
- OMIM:137200 Neuromyotonia and axonal neuropathy, autosomal recessive
- OMIM:182960 Neuronopathy, distal hereditary motor, type I
- OMIM:158590 Neuronopathy, distal hereditary motor, type IIA
- OMIM:608634 Neuronopathy, distal hereditary motor, type IIB
- OMIM:613376 Neuronopathy, distal hereditary motor, type IIC
- OMIM:615575 Neuronopathy, distal hereditary motor, type IID
- OMIM:617721 Neuronopathy, distal hereditary motor, type IX
- OMIM:600794 Neuronopathy, distal hereditary motor, type VA
- OMIM:614751 Neuronopathy, distal hereditary motor, type VB
- OMIM:158580 Neuronopathy, distal hereditary motor, type VIIA
- OMIM:607641 Neuronopathy, distal hereditary motor, type VIIB
- OMIM:600175 Neuronopathy, distal hereditary motor, type VIII
- OMIM:620080 Neuronopathy, distal hereditary motor, type X
- OMIM:619539 Neuroocular syndrome
- OMIM:618652 Neurooculocardiogenitourinary syndrome
- OMIM:551500 Neuropathy, ataxia, and retinitis pigmentosa
- OMIM:605253 Neuropathy, congenital hypomyelinating, 1, autosomal recessive
- OMIM:618184 Neuropathy, congenital hypomyelinating, 2
- OMIM:618186 Neuropathy, congenital hypomyelinating, 3
- OMIM:162370 Neuropathy, congenital, with arthrogryposis multiplex
- OMIM:619112 Neuropathy, distal hereditary motor, type VC
- OMIM:604484 Neuropathy, hereditary motor and sensory, Okinawa type
- OMIM:605285 Neuropathy, hereditary motor and sensory, Russe type
- OMIM:616505 Neuropathy, hereditary motor and sensory, type VIB
- OMIM:618511 Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
- OMIM:214370 Neuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers
- OMIM:619216 Neuropathy, hereditary motor, with myopathic features
- OMIM:608088 Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux
- OMIM:162400 Neuropathy, hereditary sensory and autonomic, type IA
- OMIM:613640 Neuropathy, hereditary sensory and autonomic, type IC
- OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II
- OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:608654 Neuropathy, hereditary sensory and autonomic, type V
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:615548 Neuropathy, hereditary sensory and autonomic, type VII
- OMIM:616488 Neuropathy, hereditary sensory and autonomic, type VIII
- OMIM:613708 Neuropathy, hereditary sensory, type ID
- OMIM:614116 Neuropathy, hereditary sensory, type IE
- OMIM:615632 Neuropathy, hereditary sensory, type IF
- OMIM:614213 Neuropathy, hereditary sensory, type IIC
- OMIM:256840 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
- OMIM:310470 Neuropathy, hereditary sensory, X-linked
- OMIM:602107 Neuropathy, hereditary thermosensitive
- OMIM:162500 Neuropathy, hereditary, with liability to pressure palsies
- OMIM:139393 Neuropathy, inflammatory demyelinating
- OMIM:256870 Neuropathy, painful
- OMIM:162600 Neuropathy, with paraprotein in serum, cerebrospinal fluid and urine
- ORPHA:137596 Neurotrophic keratopathy
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- OMIM:610717 Neutral lipid storage disease with myopathy
- ORPHA:98908 Neutral lipid storage myopathy
- OMIM:610738 Neutropenia, severe congenital 3, autosomal recessive
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- OMIM:615285 Neutropenia, severe congenital, 5, autosomal recessive
- OMIM:618752 Neutropenia, severe congenital, 8, autosomal dominant
- OMIM:619813 Neutropenia, severe congenital, 9, autosomal dominant
- ORPHA:64754 Nevus comedonicus syndrome
- ORPHA:363558 New-onset refractory status epilepticus
- OMIM:601358 Nicolaides-Baraitser syndrome
- ORPHA:3051 Nicolaides-Baraitser syndrome
- ORPHA:646 Niemann-Pick disease type C
- OMIM:257200 Niemann-Pick disease, type A
- OMIM:607616 Niemann-pick disease, type B
- OMIM:257220 Niemann-pick disease, type C1
- OMIM:607625 Niemann-pick disease, type C2
- OMIM:163400 Nievergelt syndrome
- OMIM:617024 Night blindness, congenital stationary, type 1H
- ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- OMIM:613078 Nijmegen breakage syndrome-like disorder
- ORPHA:99825 Nipah virus disease
- OMIM:600092 Nivelon-Nivelon-Mabille syndrome
- OMIM:618872 Nizon-Isidor syndrome
- ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:217253 NMDA receptor encephalitis
- ORPHA:31204 Nocardiosis
- ORPHA:2149 Nodular neuronal heterotopia
- ORPHA:73267 Non-24-hour sleep-wake syndrome
- ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- ORPHA:631 Non-acquired isolated growth hormone deficiency
- ORPHA:90695 Non-acquired panhypopituitarism
- ORPHA:1581 Non-distal monosomy 10q
- ORPHA:1695 Non-distal trisomy 10q
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:91349 Non-functioning pituitary adenoma
- ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome
- ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:442835 Non-specific early-onset epileptic encephalopathy
- ORPHA:557 Non-syndromic anorectal malformation
- ORPHA:35099 Non-syndromic bicoronal craniosynostosis
- ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis
- ORPHA:87884 Non-syndromic genetic deafness
- ORPHA:95706 Non-syndromic posterior hypospadias
- ORPHA:35093 Non-syndromic sagittal craniosynostosis
- OMIM:605820 Nonaka myopathy
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:616564 Noonan syndrome 10
- OMIM:618499 Noonan syndrome 11
- OMIM:618624 Noonan syndrome 12
- 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
- OMIM:170600 Normokalemic periodic paralysis
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
- OMIM:310600 Norrie disease
- ORPHA:649 Norrie disease
- ORPHA:3032 NPHP3-related Meckel-like syndrome
- ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis
- ORPHA:280234 Null syndrome
- ORPHA:443167 NUT midline carcinoma
- OMIM:193003 Nystagmus 4, congenital, autosomal dominant
- OMIM:164150 Nystagmus, hereditary vertical
- OMIM:310800 Nystagmus, myoclonic
Code pathologie
Nom de la pathologie
- OMIM:618512 O'donnell-Luria-Rodan syndrome
- ORPHA:99965 O'Sullivan-McLeod syndrome
- 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
- OMIM:164230 Obsessive-Compulsive disorder 1
- ORPHA:198 Occipital horn syndrome
- OMIM:304150 Occipital horn syndrome
- ORPHA:2704 Ochoa syndrome
- ORPHA:1000 Ocular albinism with late-onset sensorineural deafness
- ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:411641 Ocular cystinosis
- OMIM:257550 Ocular motor apraxia
- ORPHA:2714 Oculo-palato-cerebral syndrome
- OMIM:612109 Oculoauricular syndrome
- ORPHA:398156 Oculoauriculofrontonasal 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
- OMIM:164180 Oculocerebrocutaneous syndrome
- ORPHA:1647 Oculocerebrocutaneous syndrome
- ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- ORPHA:55 Oculocutaneous albinism
- ORPHA:352731 Oculocutaneous albinism type 1
- ORPHA:79431 Oculocutaneous albinism type 1A
- ORPHA:79434 Oculocutaneous albinism type 1B
- ORPHA:79432 Oculocutaneous albinism type 2
- ORPHA:79435 Oculocutaneous albinism type 4
- ORPHA:370091 Oculocutaneous albinism type 5
- ORPHA:370097 Oculocutaneous albinism type 6
- OMIM:619165 Oculocutaneous albinism, type VIII
- OMIM:164200 Oculodentodigital dysplasia
- ORPHA:2710 Oculodentodigital dysplasia
- OMIM:257850 Oculodentodigital dysplasia, autosomal recessive
- OMIM:600268 Oculoectodermal syndrome
- ORPHA:2712 Oculofaciocardiodental syndrome
- OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome
- ORPHA:1794 Oculomaxillofacial dysostosis
- OMIM:257910 Oculopalatocerebral syndrome
- OMIM:618637 Oculopharyngeal myopathy with leukoencephalopathy 1
- OMIM:164310 Oculopharyngodistal myopathy 1
- OMIM:619473 Oculopharyngodistal myopathy 3
- OMIM:619790 Oculopharyngodistal myopathy 4
- OMIM:257970 Oculorenocerebellar syndrome
- OMIM:618440 Oculoskeletodental syndrome
- ORPHA:557003 Oculoskeletodental syndrome
- OMIM:164330 Odontoma-Dysphagia syndrome
- ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome
- OMIM:257980 Odontoonychodermal dysplasia
- OMIM:258040 OEIS complex
- ORPHA:276432 Ogden syndrome
- OMIM:300855 Ogden syndrome
- OMIM:249620 Ohdo syndrome
- OMIM:603736 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- OMIM:300895 Ohdo syndrome, X-linked
- ORPHA:2729 Okamoto syndrome
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- ORPHA:75378 Oligocone trichromacy
- ORPHA:2260 Oligomeganephronia
- OMIM:258200 Oliver syndrome
- ORPHA:2920 Oliver syndrome
- OMIM:275400 Oliver-Mcfarlane syndrome
- OMIM:258300 Olivopontocerebellar atrophy II, autosomal recessive
- ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome
- ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type
- OMIM:258320 Omphalocele-Cleft palate syndrome, lethal
- ORPHA:352540 Oncogenic osteomalacia
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- OMIM:619356 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
- OMIM:258360 Onychotrichodysplasia and neutropenia
- OMIM:311000 Ophthalmoplegia, external, and myopia
- OMIM:618155 Ophthalmoplegia, external, with rib and vertebral anomalies
- OMIM:165150 Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency
- ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
- OMIM:258470 Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
- ORPHA:2745 Opitz GBBB syndrome
- OMIM:300000 Opitz GBBB syndrome
- OMIM:305450 Opitz-Kaveggia syndrome
- OMIM:258480 Opsismodysplasia
- ORPHA:1183 Opsoclonus-myoclonus syndrome
- OMIM:165500 Optic atrophy 1
- OMIM:616732 Optic atrophy 10 with or without ataxia, mental retardation, and seizures
- OMIM:617302 Optic atrophy 11
- OMIM:618977 Optic atrophy 12
- OMIM:311050 Optic atrophy 2
- OMIM:165300 Optic atrophy 3, autosomal dominant
- OMIM:258500 Optic atrophy 6
- OMIM:616648 Optic atrophy 8
- OMIM:165200 Optic atrophy with demyelinating disease of CNS
- OMIM:125250 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- OMIM:165199 Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant
- OMIM:258650 Optic atrophy, hearing loss, and peripheral neuropathy, autosomalrecessive
- OMIM:311100 Optic atrophy--spastic paraplegia syndrome
- ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:401777 Optic atrophy-intellectual disability syndrome
- OMIM:165550 Optic nerve hypoplasia
- ORPHA:2086 Optic pathway glioma
- OMIM:258700 Opticocochleodentate degeneration
- OMIM:258800 Oral sensibility, disturbance of
- OMIM:311250 Ornithine transcarbamylase deficiency, hyperammonemia due to
- OMIM:311200 Orofaciodigital syndrome I
- OMIM:258850 Orofaciodigital syndrome III
- OMIM:258860 Orofaciodigital syndrome IV
- OMIM:258865 Orofaciodigital syndrome IX
- ORPHA:2750 Orofaciodigital syndrome type 1
- ORPHA:434179 Orofaciodigital syndrome type 14
- ORPHA:2751 Orofaciodigital syndrome type 2
- ORPHA:2752 Orofaciodigital syndrome type 3
- ORPHA:2753 Orofaciodigital syndrome type 4
- ORPHA:2919 Orofaciodigital syndrome type 5
- ORPHA:2754 Orofaciodigital syndrome type 6
- OMIM:174300 Orofaciodigital syndrome V
- OMIM:277170 Orofaciodigital syndrome VI
- OMIM:300484 Orofaciodigital syndrome VIII
- OMIM:612913 Orofaciodigital syndrome XI
- OMIM:615948 Orofaciodigital syndrome XIV
- OMIM:620107 Orofaciodigital syndrome XIX
- OMIM:617127 Orofaciodigital syndrome XV
- OMIM:617563 Orofaciodigital syndrome XVI
- OMIM:617926 Orofaciodigital syndrome XVII
- ORPHA:93958 Oromandibular dystonia
- OMIM:258900 Orotic aciduria
- OMIM:223360 Orthostatic hypotension 1, due to DBH deficiency
- OMIM:618182 Orthostatic hypotension 2
- OMIM:143850 Orthostatic hypotensive disorder, Streeten type
- OMIM:604715 Orthostatic intolerance
- ORPHA:97335 Osgood-Schlatter disease
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:602475 Ossification of the posterior longitudinal ligament of spine
- ORPHA:2764 Osteochondritis dissecans
- OMIM:184260 Osteochondrodysplasia
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- OMIM:166990 Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension
- ORPHA:564003 Osteochondrosis of the metatarsal bone
- ORPHA:563991 Osteochondrosis of the tarsal bone
- ORPHA:666 Osteogenesis imperfecta
- OMIM:619131 Osteogenesis imperfecta 21
- OMIM:259410 Osteogenesis imperfecta congenita, microcephaly, and cataracts
- OMIM:610682 Osteogenesis imperfecta, type VII
- OMIM:610915 Osteogenesis imperfecta, type VIII
- OMIM:613849 Osteogenesis imperfecta, type XII
- OMIM:614856 Osteogenesis imperfecta, type XIII
- OMIM:615066 Osteogenesis imperfecta, type XIV
- OMIM:615220 Osteogenesis imperfecta, type XV
- OMIM:616507 Osteogenesis imperfecta, type XVII
- OMIM:617952 Osteogenesis imperfecta, type XVIII
- OMIM:618644 Osteogenesis imperfecta, type XX
- OMIM:619795 Osteogenesis imperfecta, type XXII
- ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- 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
- OMIM:259690 Osteopenia and sparse hair
- ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome
- OMIM:600329 Osteopetrosis and infantile neuroaxonal dystrophy
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:607634 Osteopetrosis, autosomal dominant 1
- OMIM:166600 Osteopetrosis, autosomal dominant 2
- OMIM:259700 Osteopetrosis, autosomal recessive 1
- OMIM:259710 Osteopetrosis, autosomal recessive 2
- 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
- OMIM:601220 Osteoporosis and oculocutaneous hypopigmentation syndrome
- OMIM:619884 Osteoporosis, childhood- or juvenile-onset, with developmental delay
- ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
- ORPHA:2788 Osteoporosis-pseudoglioma syndrome
- OMIM:259770 Osteoporosis-pseudoglioma syndrome
- ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome
- OMIM:615198 Osteosclerotic metaphyseal dysplasia
- ORPHA:2792 Otofaciocervical syndrome
- OMIM:166780 Otofaciocervical syndrome
- OMIM:615560 Otofaciocervical syndrome 2
- ORPHA:2793 Otoonychoperoneal syndrome
- OMIM:259780 Otoonychoperoneal syndrome
- ORPHA:90650 Otopalatodigital syndrome type 1
- ORPHA:90652 Otopalatodigital syndrome type 2
- OMIM:311300 Otopalatodigital syndrome, type I
- OMIM:304120 Otopalatodigital syndrome, type II
- OMIM:233300 Ovarian dysgenesis 1
- OMIM:619834 Ovarian dysgenesis 10
- OMIM:614324 Ovarian dysgenesis 3
- OMIM:616185 Ovarian dysgenesis 4
- OMIM:618187 Ovarian dysgenesis 8
- OMIM:619665 Ovarian dysgenesis 9
- ORPHA:64739 Ovarian hyperstimulation syndrome
- ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome
- ORPHA:206572 Overlap myositis
- ORPHA:31 Oxoglutaric aciduria
Code pathologie
Nom de la pathologie
- ORPHA:2796 Pachydermoperiostosis
- OMIM:600176 Pachygyria with mental retardation, seizures, and arachnoid cysts
- OMIM:610279 Pachygyria, frontotemporal
- OMIM:618737 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
- ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome
- OMIM:301025 Paganini-Miozzo syndrome
- OMIM:602080 Paget disease of bone 2, early-onset
- OMIM:239000 Paget disease of bone 5, juvenile-onset
- ORPHA:991 PAGOD syndrome
- ORPHA:1993 Pai syndrome
- OMIM:311400 Paine syndrome
- ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- OMIM:311450 Pallister W syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:601803 Pallister-Killian syndrome
- ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome
- ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome
- OMIM:600001 Pancreatic agenesis and congenital heart defects
- ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome
- OMIM:609069 Pancreatic and cerebellar agenesis
- ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- ORPHA:309031 Pancreatic triacylglycerol lipase deficiency
- ORPHA:66624 PANDAS
- OMIM:260470 Panencephalitis, subacute sclerosing
- ORPHA:95513 Panhypophysitis
- OMIM:312000 Panhypopituitarism, X-linked
- OMIM:167870 Panic disorder 1
- ORPHA:157850 Pantothenate kinase-associated neurodegeneration
- ORPHA:251915 Papillary tumor of the pineal region
- OMIM:260500 Papilloma of choroid plexus
- ORPHA:2807 Papilloma of choroid plexus
- ORPHA:678 Papillon-Lefèvre syndrome
- OMIM:245000 Papillon-Lefevre syndrome
- OMIM:120330 Papillorenal syndrome
- OMIM:168000 Paragangliomas 1
- OMIM:601650 Paragangliomas 2
- OMIM:605373 Paragangliomas 3
- OMIM:115310 Paragangliomas 4
- OMIM:614165 Paragangliomas 5
- OMIM:618464 Paragangliomas 6
- OMIM:618475 Paragangliomas 7
- OMIM:168100 Paralysis agitans, juvenile, of hunt
- ORPHA:684 Paramyotonia congenita of Von Eulenburg
- ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome
- ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome
- OMIM:613938 Parasomnia, Sleepwalking type
- OMIM:168400 Parastremmatic dwarfism
- ORPHA:143 Parathyroid carcinoma
- OMIM:619873 Parenti-Mignot neurodevelopmental syndrome
- OMIM:168500 Parietal foramina
- OMIM:609597 Parietal foramina 2
- OMIM:609566 Parietal foramina 3
- ORPHA:851 Paris-Trousseau thrombocytopenia
- ORPHA:90307 Parkes Weber syndrome
- OMIM:168601 Parkinson disease 1, autosomal dominant
- OMIM:607688 Parkinson disease 11
- OMIM:610297 Parkinson disease 13
- OMIM:612953 Parkinson disease 14, autosomal recessive
- OMIM:260300 Parkinson disease 15, autosomal recessive early-onset
- OMIM:614203 Parkinson disease 17
- OMIM:614251 Parkinson disease 18
- OMIM:615528 Parkinson disease 19a, juvenile-onset
- OMIM:615530 Parkinson disease 20, early-onset
- OMIM:616361 Parkinson disease 21
- OMIM:616710 Parkinson disease 22, autosomal dominant
- OMIM:616840 Parkinson disease 23, autosomal recessive early-onset
- OMIM:619491 Parkinson disease 24, autosomal dominant, susceptibility to
- OMIM:605543 Parkinson disease 4
- OMIM:613643 Parkinson disease 5, susceptibility to
- OMIM:605909 Parkinson disease 6, autosomal recessive early-onset
- OMIM:606324 Parkinson disease 7, autosomal recessive early-onset
- OMIM:607060 Parkinson disease 8, autosomal dominant
- OMIM:600116 Parkinson disease, juvenile, type 2
- OMIM:168600 Parkinson disease, late-onset
- ORPHA:171695 Parkinsonian-pyramidal syndrome
- OMIM:619279 Parkinsonism with polyneuropathy
- OMIM:300911 Parkinsonism with spasticity, X-linked
- OMIM:619738 Parkinsonism-dystonia 3, childhood-onset
- OMIM:613135 Parkinsonism-Dystonia, infantile, 1
- OMIM:618049 Parkinsonism-Dystonia, infantile, 2
- ORPHA:90035 Paroxysmal cold hemoglobinuria
- ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
- ORPHA:98811 Paroxysmal exertion-induced dyskinesia
- OMIM:167400 Paroxysmal extreme pain disorder
- ORPHA:46348 Paroxysmal extreme pain disorder
- ORPHA:157835 Paroxysmal hemicrania
- ORPHA:98809 Paroxysmal kinesigenic dyskinesia
- ORPHA:447 Paroxysmal nocturnal hemoglobinuria
- OMIM:615399 Paroxysmal nocturnal hemoglobinuria 2
- ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia
- OMIM:118800 Paroxysmal nonkinesigenic dyskinesia 1
- OMIM:611147 Paroxysmal nonkinesigenic dyskinesia 2
- OMIM:609446 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
- ORPHA:90797 Partial androgen insensitivity syndrome
- 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
- OMIM:601466 Patent ductus venosus
- 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:93126 Pauci-immune glomerulonephritis
- 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:93552 Pediatric systemic lupus erythematosus
- ORPHA:525731 Pediatric-onset Graves disease
- OMIM:260565 Peho syndrome
- ORPHA:2836 PEHO syndrome
- OMIM:617507 Peho-Like syndrome
- OMIM:169400 Pelger-Huet anomaly
- ORPHA:702 Pelizaeus-Merzbacher disease
- OMIM:312080 Pelizaeus-Merzbacher disease
- ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers
- ORPHA:280219 Pelizaeus-Merzbacher disease, classic form
- ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form
- ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form
- OMIM:260650 Pellagra-Like syndrome
- ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- ORPHA:2839 Pelvis-shoulder dysplasia
- OMIM:169550 Pelvis-Shoulder dysplasia
- ORPHA:705 Pendred syndrome
- OMIM:274600 Pendred syndrome
- ORPHA:49 Penile agenesis
- ORPHA:2842 Penoscrotal transposition
- ORPHA:1335 Pentalogy of Cantrell
- ORPHA:11 Pentasomy X
- ORPHA:65250 Perineural cyst
- OMIM:142680 Periodic fever, familial, autosomal dominant
- OMIM:150550 Periodic fever, immunodeficiency, and thrombocytopenia syndrome
- OMIM:614674 Periodic fever, menstrual cycle-dependent
- ORPHA:139426 Perioral myoclonia with absences
- ORPHA:563 Peripartum cardiomyopathy
- OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
- ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- OMIM:619903 Peripheral motor neuropathy, childhood-onset, biotin-responsive
- ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- OMIM:260970 Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and
- OMIM:618124 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
- OMIM:614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
- ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- OMIM:608097 Periventricular heterotopia with microcephaly, autosomal recessive
- ORPHA:98892 Periventricular nodular heterotopia
- OMIM:615544 Periventricular nodular heterotopia 6
- OMIM:617201 Periventricular nodular heterotopia 7
- OMIM:618185 Periventricular nodular heterotopia 8
- OMIM:618918 Periventricular nodular heterotopia 9
- OMIM:267000 Perlman syndrome
- ORPHA:2849 Perlman syndrome
- ORPHA:226292 Permanent congenital hypothyroidism
- ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- OMIM:170980 Peroneal nerve, accessory deep
- ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:264470 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:616154 Peroxisomal fatty acyl-CoA reductase 1 disorder
- OMIM:614882 Peroxisome biogenesis disorder 10A (Zellweger)
- OMIM:617370 Peroxisome biogenesis disorder 10B
- OMIM:614883 Peroxisome biogenesis disorder 11A (Zellweger)
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger)
- OMIM:614887 Peroxisome biogenesis disorder 13A (Zellweger)
- OMIM:614920 Peroxisome biogenesis disorder 14B
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:601539 Peroxisome biogenesis disorder 1B
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:202370 Peroxisome biogenesis disorder 2B
- OMIM:614859 Peroxisome biogenesis disorder 3A (Zellweger)
- OMIM:266510 Peroxisome biogenesis disorder 3B
- OMIM:614862 Peroxisome biogenesis disorder 4A (Zellweger)
- OMIM:614863 Peroxisome biogenesis disorder 4B
- OMIM:614866 Peroxisome biogenesis disorder 5A (Zellweger)
- OMIM:614867 Peroxisome biogenesis disorder 5B
- OMIM:614870 Peroxisome biogenesis disorder 6A (Zellweger)
- OMIM:614871 Peroxisome biogenesis disorder 6B
- OMIM:614872 Peroxisome biogenesis disorder 7A (zellweger)
- OMIM:614873 Peroxisome biogenesis disorder 7B
- OMIM:614876 Peroxisome biogenesis disorder 8A (Zellweger)
- OMIM:614877 Peroxisome biogenesis disorder 8B
- OMIM:614879 Peroxisome biogenesis disorder 9B
- OMIM:233400 Perrault syndrome 1
- OMIM:614129 Perrault syndrome 3
- OMIM:615300 Perrault syndrome 4
- OMIM:616138 Perrault syndrome 5
- OMIM:168605 Perry syndrome
- ORPHA:178509 Perry syndrome
- ORPHA:398147 Persistent idiopathic facial pain
- ORPHA:709 Peters plus syndrome
- OMIM:261540 Peters-Plus syndrome
- OMIM:304340 Pettigrew syndrome
- ORPHA:42642 PFAPA syndrome
- OMIM:101600 Pfeiffer syndrome
- ORPHA:93258 Pfeiffer syndrome type 1
- ORPHA:93259 Pfeiffer syndrome type 2
- ORPHA:93260 Pfeiffer syndrome type 3
- ORPHA:2871 Pfeiffer-Palm-Teller syndrome
- ORPHA:443811 PGM3-CDG
- OMIM:606519 PHACE association
- ORPHA:42775 PHACE syndrome
- ORPHA:209959 Phacoanaphylactic uveitis
- ORPHA:2874 Phakomatosis pigmentokeratotica
- ORPHA:2875 Phakomatosis pigmentovascularis
- ORPHA:2876 PHAVER syndrome
- OMIM:606232 Phelan-Mcdermid syndrome
- ORPHA:1919 Phenobarbital embryopathy
- OMIM:261600 Phenylketonuria
- ORPHA:716 Phenylketonuria
- OMIM:171300 PHEOCHROMOCYTOMA
- OMIM:171420 Pheochromocytoma-Islet cell tumor syndrome
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- ORPHA:2879 Phocomelia, Schinzel type
- OMIM:171480 Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia
- OMIM:261680 Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- OMIM:601815 Phosphoglycerate dehydrogenase deficiency
- OMIM:300653 Phosphoglycerate kinase 1 deficiency
- ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:300661 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:610992 Phosphoserine aminotransferase deficiency
- ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form
- OMIM:614023 Phosphoserine phosphatase deficiency
- OMIM:172500 Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebraldysfunction
- OMIM:132100 Photoparoxysmal response 1
- OMIM:172700 Pick disease of brain
- OMIM:172800 Piebald trait
- OMIM:172850 Piebald trait with neurologic defects
- ORPHA:2885 Piebald trait-neurologic defects syndrome
- ORPHA:2884 Piebaldism
- ORPHA:487825 Pierpont syndrome
- OMIM:602342 Pierpont syndrome
- OMIM:609049 Pierson syndrome
- OMIM:301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked
- OMIM:610489 Pigmented nodular adrenocortical disease, primary, 1
- OMIM:610475 Pigmented nodular adrenocortical disease, primary, 2
- OMIM:615830 Pigmented nodular adrenocortical disease, primary, 4
- OMIM:617682 Pilarowski-Bjornsson syndrome
- ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome
- OMIM:262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
- ORPHA:251909 Pineoblastoma
- ORPHA:251912 Pineocytoma
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:610954 Pitt-Hopkins syndrome
- OMIM:610042 Pitt-Hopkins-Like syndrome 1
- OMIM:614325 Pitt-Hopkins-Like syndrome 2
- ORPHA:251623 Pituicytoma
- OMIM:300943 Pituitary adenoma 2, GH-secreting
- OMIM:219090 Pituitary adenoma 4, ACTH-secreting, somatic
- OMIM:617540 Pituitary adenoma 5, multiple types
- OMIM:102200 Pituitary adenoma, growth hormone-secreting, 1
- ORPHA:95613 Pituitary apoplexy
- ORPHA:300385 Pituitary carcinoma
- ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome
- ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts
- ORPHA:91351 Pituitary dermoid and epidermoid cysts
- OMIM:262710 Pituitary dwarfism with large sella turcica
- ORPHA:99725 Pituitary gigantism
- OMIM:613038 Pituitary hormone deficiency, combined, 1
- OMIM:262600 Pituitary hormone deficiency, combined, 2
- OMIM:613986 Pituitary hormone deficiency, combined, 6
- ORPHA:95496 Pituitary stalk interruption syndrome
- ORPHA:521426 PLAA-associated neurodevelopmental disorder
- ORPHA:439167 Placental insufficiency
- ORPHA:707 Plague
- OMIM:217090 Plasminogen deficiency, type I
- OMIM:601399 Platelet disorder, familial, with associated myeloid malignancy
- OMIM:173420 Platelet disorder, undefined
- OMIM:151210 Platyspondylic lethal skeletal dysplasia, Torrance type
- ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17
- OMIM:262900 Pleoconial myopathy with salt craving
- ORPHA:50251 Pleural mesothelioma
- OMIM:601200 Pleuropulmonary blastoma
- ORPHA:54028 Plummer-Vinson syndrome
- ORPHA:79318 PMM2-CDG
- ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome
- ORPHA:2905 POEMS syndrome
- OMIM:618732 Poirier-Bienvenu neurodevelopmental syndrome
- ORPHA:2911 Poland syndrome
- ORPHA:2912 Poliomyelitis
- ORPHA:767 Polyarteritis nodosa
- OMIM:600666 Polycystic kidney disease 3
- OMIM:600273 Polycystic kidney disease, infantile severe, with tuberous sclerosis
- OMIM:173900 Polycystic kidneys
- OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- OMIM:618193 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
- OMIM:174050 Polycystic liver disease 1 with or without kidney cysts
- ORPHA:729 Polycythemia vera
- OMIM:263300 Polycythemia vera
- ORPHA:453533 Polyendocrine-polyneuropathy syndrome
- OMIM:616113 Polyendocrine-Polyneuropathy syndrome
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:616199 Polyglucosan body myopathy 2
- OMIM:263570 Polyglucosan body neuropathy, adult form
- OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy
- ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- ORPHA:447877 Polymerase proofreading-related adenomatous polyposis
- ORPHA:300573 Polymicrogyria due to TUBB2B mutation
- ORPHA:250972 Polymicrogyria with optic nerve hypoplasia
- OMIM:618343 Polymicrogyria with or without vascular-type EDS
- OMIM:606854 Polymicrogyria, bilateral frontoparietal
- OMIM:300388 Polymicrogyria, bilateral perisylvian
- OMIM:615752 Polymicrogyria, bilateral perisylvian
- OMIM:612691 Polymicrogyria, bilateral temporooccipital
- OMIM:616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
- OMIM:263550 Polymyoclonus, infantile
- ORPHA:732 Polymyositis
- ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
- OMIM:612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
- ORPHA:141091 Polyrrhinia
- ORPHA:228410 Polyvalvular heart disease syndrome
- ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24
- ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11
- ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14
- ORPHA:99748 Pontiac fever
- OMIM:614688 Pontine tegmental cap dysplasia
- ORPHA:2254 Pontocerebellar hypoplasia type 1
- ORPHA:411493 Pontocerebellar hypoplasia type 10
- OMIM:607596 Pontocerebellar hypoplasia type 1A
- ORPHA:2524 Pontocerebellar hypoplasia type 2
- ORPHA:166063 Pontocerebellar hypoplasia type 4
- ORPHA:284339 Pontocerebellar hypoplasia type 7
- OMIM:618810 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
- OMIM:615803 Pontocerebellar hypoplasia, type 10
- OMIM:617695 Pontocerebellar hypoplasia, type 11
- OMIM:618266 Pontocerebellar hypoplasia, type 12
- OMIM:618606 Pontocerebellar hypoplasia, type 13
- OMIM:619301 Pontocerebellar hypoplasia, type 14
- OMIM:619302 Pontocerebellar hypoplasia, type 15
- OMIM:619527 Pontocerebellar hypoplasia, type 16
- 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:619303 Pontocerebellar hypoplasia, type 1E
- OMIM:619304 Pontocerebellar hypoplasia, type 1F
- OMIM:277470 Pontocerebellar hypoplasia, type 2A
- OMIM:612389 Pontocerebellar hypoplasia, type 2B
- OMIM:612390 Pontocerebellar hypoplasia, type 2C
- OMIM:613811 Pontocerebellar hypoplasia, type 2D
- OMIM:615851 Pontocerebellar hypoplasia, type 2E
- OMIM:617026 Pontocerebellar hypoplasia, type 2F
- OMIM:608027 Pontocerebellar hypoplasia, type 3
- OMIM:225753 Pontocerebellar hypoplasia, type 4
- OMIM:610204 Pontocerebellar hypoplasia, type 5
- OMIM:611523 Pontocerebellar hypoplasia, type 6
- OMIM:614969 Pontocerebellar hypoplasia, type 7
- OMIM:614961 Pontocerebellar hypoplasia, type 8
- OMIM:615809 Pontocerebellar hypoplasia, type 9
- OMIM:119500 Popliteal pterygium syndrome
- OMIM:618428 Popov-Chang syndrome
- ORPHA:2940 Porencephaly
- OMIM:601322 Porencephaly, cerebellar hypoplasia, and internal malformations
- OMIM:615960 Poretti-Boltshauser syndrome
- ORPHA:738 Porphyria
- ORPHA:101330 Porphyria cutanea tarda
- OMIM:176090 Porphyria cutanea tarda, type I
- ORPHA:100924 Porphyria due to ALA dehydratase deficiency
- ORPHA:79473 Porphyria variegata
- OMIM:176200 Porphyria variegata
- OMIM:612740 Porphyria, acute hepatic
- OMIM:176000 Porphyria, acute intermittent
- ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- ORPHA:95619 Post-traumatic pituitary deficiency
- ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome
- ORPHA:97349 Postencephalitic parkinsonism
- OMIM:176250 Posterior column ataxia
- ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome
- ORPHA:54247 Posterior cortical atrophy
- ORPHA:268810 Posterior meningocele
- ORPHA:98973 Posterior polymorphous corneal dystrophy
- ORPHA:93110 Posterior urethral valve
- ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
- ORPHA:279947 Postorgasmic illness syndrome
- ORPHA:2942 Postpoliomyelitis syndrome
- ORPHA:98913 Postsynaptic congenital myasthenic syndromes
- ORPHA:163921 Posttransplant acute limbic encephalitis
- OMIM:610883 Potocki-Lupski syndrome
- OMIM:601224 Potocki-Shaffer 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
- ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability 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:612885 Premature ovarian failure 10
- OMIM:616946 Premature ovarian failure 11
- OMIM:617442 Premature ovarian failure 13
- OMIM:618014 Premature ovarian failure 14
- OMIM:618723 Premature ovarian failure 16
- OMIM:619146 Premature ovarian failure 17
- OMIM:619203 Premature ovarian failure 18
- OMIM:619938 Premature ovarian failure 20
- OMIM:300511 Premature ovarian failure 2A
- OMIM:612310 Premature ovarian failure 6
- OMIM:612964 Premature ovarian failure 7
- OMIM:615723 Premature ovarian failure 8
- OMIM:615724 Premature ovarian failure 9
- OMIM:176600 Presenile dementia, Kraepelin type
- ORPHA:98914 Presynaptic congenital myasthenic syndromes
- OMIM:309610 Prieto syndrome
- OMIM:615474 Primary aldosteronism, seizures, and neurologic abnormalities
- ORPHA:140989 Primary angiitis of the central nervous system
- ORPHA:186 Primary biliary cholangitis
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:98807 Primary dystonia, DYT13 type
- ORPHA:370103 Primary dystonia, DYT17 type
- ORPHA:99657 Primary dystonia, DYT2 type
- ORPHA:306734 Primary dystonia, DYT21 type
- ORPHA:464440 Primary dystonia, DYT27 type
- ORPHA:98805 Primary dystonia, DYT4 type
- ORPHA:98806 Primary dystonia, DYT6 type
- ORPHA:90026 Primary erythromelalgia
- ORPHA:90042 Primary familial polycythemia
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- ORPHA:416 Primary hyperoxaluria
- ORPHA:93598 Primary hyperoxaluria type 1
- ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:35689 Primary lateral sclerosis
- OMIM:611637 Primary lateral sclerosis, adult
- OMIM:606353 Primary lateral sclerosis, juvenile
- ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- ORPHA:824 Primary myelofibrosis
- ORPHA:357225 Primary non-essential cutis verticis gyrata
- ORPHA:238606 Primary orthostatic tremor
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- ORPHA:75567 Primary progressive freezing gait
- ORPHA:2257 Primary pulmonary hypoplasia
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:289390 Primary Sjögren syndrome
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- ORPHA:231580 Primary unilateral adrenal hyperplasia
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- OMIM:259050 Primrose syndrome
- ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments
- ORPHA:141099 Proboscis lateralis
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:602249 Progeroid facial appearance with hand anomalies
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:1871 Progressive cone dystrophy
- ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency
- ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type
- ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- OMIM:157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- OMIM:609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
- OMIM:609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- OMIM:610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
- OMIM:613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- OMIM:616479 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
- OMIM:617069 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
- OMIM:617070 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
- OMIM:618098 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- OMIM:615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- ORPHA:172 Progressive familial intrahepatic cholestasis
- ORPHA:1214 Progressive hemifacial atrophy
- ORPHA:217260 Progressive multifocal leukoencephalopathy
- ORPHA:308 Progressive myoclonic epilepsy type 1
- ORPHA:263516 Progressive myoclonic epilepsy type 3
- ORPHA:352596 Progressive myoclonic epilepsy with dystonia
- ORPHA:100070 Progressive non-fluent aphasia
- 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
- ORPHA:683 Progressive supranuclear palsy
- ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome
- ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome
- ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
- OMIM:264120 Prolactin deficiency with obesity and enlarged testes
- OMIM:264110 Prolactin deficiency, isolated
- ORPHA:2965 Prolactinoma
- OMIM:170100 Prolidase deficiency
- ORPHA:742 Prolidase deficiency
- OMIM:225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
- ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome
- OMIM:606054 Propionic acidemia
- ORPHA:35 Propionic acidemia
- OMIM:610382 Prosopagnosia, hereditary
- OMIM:603688 Prostate cancer/brain cancer susceptibility
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- OMIM:618048 Proteasome-Associated autoinflammatory syndrome 2
- OMIM:619183 Proteasome-associated autoinflammatory syndrome 4
- 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:401768 Proximal myopathy with extrapyramidal signs
- ORPHA:47159 Proximal renal tubular acidosis
- ORPHA:1762 Proximal Xq28 duplication syndrome
- ORPHA:2970 Prune belly syndrome
- OMIM:264140 Prune belly syndrome with pulmonic stenosis, mental retardation, anddeafness
- ORPHA:544469 PRUNE1-related neurological syndrome
- OMIM:618886 Pseudo-Torch syndrome 3
- OMIM:177170 Pseudoachondroplasia
- ORPHA:750 Pseudoachondroplasia
- ORPHA:221120 Pseudoaminopterin syndrome
- OMIM:609153 Pseudohyperkalemia, familial, 2, due to red cell leak
- ORPHA:757 Pseudohypoaldosteronism type 2
- OMIM:145260 Pseudohypoaldosteronism, type II
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:94090 Pseudohypoparathyroidism type 2
- ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy
- OMIM:103580 Pseudohypoparathyroidism, type IA
- OMIM:612462 Pseudohypoparathyroidism, type IC
- ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type
- OMIM:264475 Pseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies
- ORPHA:2985 Pseudoprogeria syndrome
- ORPHA:79445 Pseudopseudohypoparathyroidism
- OMIM:612463 PSEUDOPSEUDOHYPOPARATHYROIDISM
- OMIM:264480 Pseudotrisomy 13 syndrome
- OMIM:264500 Pseudouridinuria and mental defect
- ORPHA:71519 Psychogenic movement disorders
- OMIM:614501 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
- ORPHA:306498 PTEN hamartoma tumor syndrome
- ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency
- OMIM:177980 Pterygia, mental retardation, and distinctive craniofacial features
- ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome
- ORPHA:2997 Ptosis-vocal cord paralysis syndrome
- ORPHA:60039 Pudendal neuralgia
- ORPHA:60025 Pulmonary alveolar microlithiasis
- OMIM:610910 Pulmonary alveolar proteinosis, acquired
- ORPHA:2038 Pulmonary arteriovenous malformation
- OMIM:614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
- OMIM:265400 Pulmonary hypertension, primary, autosomal recessive
- ORPHA:79501 Punctate palmoplantar keratoderma type 1
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- ORPHA:441 Pure autonomic failure
- ORPHA:254854 Pure mitochondrial myopathy
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- ORPHA:763 Pycnodysostosis
- ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy
- ORPHA:79096 Pyridoxal phosphate-responsive seizures
- OMIM:610090 Pyridoxamine 5-prime-phosphate oxidase deficiency
- ORPHA:3006 Pyridoxine-dependent epilepsy
- ORPHA:3008 Pyruvate carboxylase deficiency
- OMIM:266150 Pyruvate carboxylase deficiency
- ORPHA:765 Pyruvate dehydrogenase deficiency
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- OMIM:312170 Pyruvate dehydrogenase e1-alpha deficiency
- OMIM:614111 Pyruvate dehydrogenase E1-beta deficiency
- ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency
- ORPHA:79244 Pyruvate dehydrogenase E2 deficiency
- OMIM:245348 Pyruvate dehydrogenase E2 deficiency
- ORPHA:2394 Pyruvate dehydrogenase E3 deficiency
- OMIM:245349 Pyruvate dehydrogenase e3-binding protein deficiency
- ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency
- ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency
- OMIM:608782 Pyruvate dehydrogenase phosphatase deficiency
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:770 Rabies
- ORPHA:769 Rabson-Mendenhall syndrome
- OMIM:312190 Radial aplasia, X-linked
- OMIM:266250 Radiculoneuropathy, fatal neonatal
- OMIM:619312 Radio-Tartaglia syndrome
- OMIM:616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- OMIM:266255 Radioulnar synostosis, unilateral, with developmental retardationand hypotonia
- ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome
- ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome
- OMIM:614202 Rafiq syndrome
- OMIM:617537 Rahman 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
- ORPHA:71517 Rapid-onset dystonia-parkinsonism
- ORPHA:98028 Rare circulatory system disease
- ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:1929 Rasmussen subacute encephalitis
- ORPHA:31205 Rat-bite fever
- OMIM:619695 Rauch-Steindl syndrome
- ORPHA:99852 Ravine syndrome
- OMIM:300114 Raynaud-Claes syndrome
- ORPHA:29207 Reactive arthritis
- ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- ORPHA:94125 Recessive mitochondrial ataxia syndrome
- ORPHA:461 Recessive X-linked ichthyosis
- ORPHA:96167 Recombinant 8 syndrome
- OMIM:179613 Recombinant chromosome 8 syndrome
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- ORPHA:60032 Recurrent respiratory papillomatosis
- OMIM:266350 Red skin pigment anomaly of new guinea
- ORPHA:398063 Refractory celiac disease
- OMIM:266500 Refsum disease
- ORPHA:773 Refsum disease
- ORPHA:91547 Relapsing fever
- ORPHA:728 Relapsing polychondritis
- OMIM:266810 Renal and mullerian duct hypoplasia
- OMIM:137920 Renal cysts and diabetes syndrome
- OMIM:233100 Renal glucosuria
- ORPHA:93101 Renal hypoplasia
- ORPHA:97362 Renal hypoplasia, bilateral
- ORPHA:71273 Renal nutcracker syndrome
- OMIM:267200 Renal tubular acidosis III
- 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:604278 Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation
- OMIM:267430 Renal tubular dysgenesis
- ORPHA:3033 Renal tubular dysgenesis
- OMIM:560000 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia
- OMIM:208540 Renal-hepatic-pancreatic dysplasia 1
- OMIM:309500 Renpenning syndrome
- ORPHA:3242 Renpenning syndrome
- ORPHA:494344 RERE-related neurodevelopmental syndrome
- ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome
- OMIM:102300 Restless legs syndrome, susceptibility to, 1
- OMIM:180000 Retinal arteries, tortuosity of
- ORPHA:71213 Retinal capillary malformation
- OMIM:180020 Retinal cone dystrophy 1
- OMIM:610024 Retinal cone dystrophy 3A
- OMIM:610356 Retinal cone dystrophy 3B
- OMIM:610478 Retinal cone dystrophy 4
- OMIM:267740 Retinal degeneration and epilepsy
- OMIM:619446 Retinal dystrophy and microvillus inclusion disease
- OMIM:616079 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
- OMIM:618863 Retinal dystrophy with leukodystrophy
- OMIM:617175 Retinal dystrophy with or without extraocular anomalies
- OMIM:617547 Retinal dystrophy with or without macular staphyloma
- OMIM:616108 Retinal dystrophy, juvenile cataracts, and short stature syndrome
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- ORPHA:791 Retinitis pigmentosa
- OMIM:600852 Retinitis pigmentosa 17
- OMIM:300424 Retinitis pigmentosa 23
- OMIM:602772 Retinitis pigmentosa 25
- OMIM:300029 Retinitis pigmentosa 3
- OMIM:609913 Retinitis pigmentosa 32
- OMIM:611131 Retinitis pigmentosa 37
- OMIM:613464 Retinitis pigmentosa 51
- OMIM:613861 Retinitis pigmentosa 59
- OMIM:616469 Retinitis pigmentosa 72
- OMIM:617460 Retinitis pigmentosa 79
- OMIM:617781 Retinitis pigmentosa 80
- 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:52427 Retinitis punctata albescens
- OMIM:180200 RETINOBLASTOMA
- ORPHA:790 Retinoblastoma
- ORPHA:778 Rett syndrome
- OMIM:312750 Rett syndrome
- OMIM:613454 Rett syndrome, congenital variant
- ORPHA:284388 Reversible cerebral vasoconstriction syndrome
- OMIM:268130 Revesz syndrome
- ORPHA:779 Reynolds syndrome
- ORPHA:244310 RFT1-CDG
- ORPHA:69077 Rhabdoid tumor
- OMIM:609322 Rhabdoid tumor predisposition syndrome 1
- ORPHA:3099 Rheumatic fever
- ORPHA:177 Rhizomelic chondrodysplasia punctata
- OMIM:215100 Rhizomelic chondrodysplasia punctata, type 1
- OMIM:222765 Rhizomelic chondrodysplasia punctata, type 2
- OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5
- 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:59315 Rhombencephalosynapsis
- ORPHA:140976 RHYNS syndrome
- OMIM:602152 Rhyns syndrome
- OMIM:615026 Riboflavin deficiency
- ORPHA:97229 Riboflavin transporter deficiency
- OMIM:608611 Ribose 5-phosphate isomerase deficiency
- ORPHA:1399 Richards-Rundle syndrome
- ORPHA: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
- ORPHA:319251 Rift valley fever
- OMIM:208530 Right atrial isomerism (Ivemark)
- OMIM:602771 Rigid spine muscular dystrophy 1
- ORPHA:97244 Rigid spine syndrome
- OMIM:614498 Rigidity and multifocal seizure syndrome, lethal neonatal
- ORPHA:217335 RIN2 syndrome
- ORPHA:1437 Ring chromosome 1 syndrome
- 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:1450 Ring chromosome 8 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: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
- OMIM:613328 Roifman-Chitayat syndrome
- ORPHA:1945 Rolandic epilepsy
- OMIM:300643 Rolandic epilepsy, mental retardation, and speech dyspraxia
- ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
- ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome
- ORPHA:101016 Romano-Ward syndrome
- ORPHA:158014 Rosaï-Dorfman disease
- 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
- OMIM:180800 Roussy-Levy hereditary areflexic dystasia
- ORPHA:3115 Roussy-Lévy syndrome
- 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
- ORPHA:3121 Ruvalcaba syndrome
- OMIM:180870 Ruvalcaba syndrome
Code pathologie
Nom de la pathologie
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- OMIM:211390 Sabinas brittle hair syndrome
- ORPHA:3124 Saccharopinuria
- OMIM:268700 SACCHAROPINURIA
- OMIM:600145 Sacral defect with anterior meningocele
- OMIM:101400 Saethre-Chotzen syndrome
- ORPHA:794 Saethre-Chotzen syndrome
- ORPHA:300493 Sagliker syndrome
- OMIM:611705 Salih myopathy
- OMIM:604369 Salla disease
- OMIM:609056 Salt and pepper developmental regression syndrome
- OMIM:618804 Sandestig-Stefanova syndrome
- OMIM:268800 Sandhoff disease
- ORPHA:796 Sandhoff disease
- ORPHA:309169 Sandhoff disease, adult form
- ORPHA:309155 Sandhoff disease, infantile form
- ORPHA:309162 Sandhoff disease, juvenile form
- ORPHA:71272 Sandifer syndrome
- ORPHA:2323 Sanjad-Sakati syndrome
- ORPHA:793 SAPHO syndrome
- ORPHA:797 Sarcoidosis
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- OMIM:612387 Sarcoidosis, susceptibility to, 2
- ORPHA:3129 Sarcosinemia
- ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement
- ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant
- ORPHA:3130 Satoyoshi syndrome
- OMIM:618150 Saul-Wilson syndrome
- OMIM:181180 Say syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:269000 Sc phocomelia syndrome
- ORPHA:1003 Scalp defects-postaxial polydactyly syndrome
- OMIM:300695 Scapuloperoneal myopathy, X-linked dominant
- OMIM:181405 Scapuloperoneal spinal muscular atrophy
- ORPHA:3134 SCARF syndrome
- OMIM:312830 Scarf syndrome
- ORPHA:449280 Scedosporiosis
- OMIM:615547 Schaaf-Yang syndrome
- OMIM:607016 Scheie syndrome
- ORPHA:93474 Scheie syndrome
- OMIM:164220 Schilbach-Rott syndrome
- ORPHA:59298 Schilder disease
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:312840 Schimke X-linked mental retardation syndrome
- OMIM:163200 Schimmelpenning-Feuerstein-Mims syndrome
- OMIM:609241 Schindler disease, type I
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:63862 Schisis association
- OMIM:269160 SCHIZENCEPHALY
- ORPHA:799 Schizencephaly
- OMIM:181500 Schizophrenia
- OMIM:181510 Schizophrenia 1
- OMIM:605419 Schizophrenia 10
- OMIM:613950 Schizophrenia 15
- OMIM:617629 Schizophrenia 19
- OMIM:600511 Schizophrenia 3
- OMIM:600850 Schizophrenia 4
- ORPHA:37748 Schnitzler syndrome
- OMIM:300977 Scholte syndrome
- OMIM:615009 Schuurs-Hoeijmakers syndrome
- OMIM:162091 Schwannomatosis
- OMIM:615670 Schwannomatosis 2
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:255800 Schwartz-jampel syndrome, type 1
- OMIM:600802 Scid, autosomal recessive, T-Negative/b-Positive type
- ORPHA:801 Scleroderma
- ORPHA:167635 Scleromyxedema
- OMIM:617394 Sclerosing cholangitis, neonatal
- ORPHA:3152 Sclerosteosis
- OMIM:269500 Sclerosteosis 1
- OMIM:614305 Sclerosteosis 2
- ORPHA:466677 Scorpion envenomation
- ORPHA:83317 Scrub typhus
- 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:399180 Secondary non-traumatic avascular necrosis
- ORPHA:95427 Secondary short bowel syndrome
- ORPHA:99857 Secondary syringomyelia
- OMIM:605407 Segawa syndrome, autosomal recessive
- ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- OMIM:601764 Seizures, benign familial infantile, 1
- OMIM:605751 Seizures, benign familial infantile, 2
- OMIM:607745 Seizures, benign familial infantile, 3
- OMIM:617080 Seizures, benign familial infantile, 5
- OMIM:121200 Seizures, benign familial neonatal, 1
- OMIM:269720 Seizures, benign familial neonatal, autosomal recessive
- OMIM:616632 Seizures, cortical blindness, and microcephaly syndrome
- OMIM:618875 Seizures, early-onset, with neurodegeneration and brain calcification
- OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome
- OMIM:612780 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- ORPHA:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome
- ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome
- ORPHA:331235 Selective IgM deficiency
- ORPHA:100069 Semantic dementia
- ORPHA:220386 Semilobar holoprosencephaly
- OMIM:212350 Sengers syndrome
- OMIM:269800 Senile plaque formation
- ORPHA:84081 Senior-Boichis syndrome
- ORPHA:3156 Senior-Loken syndrome
- OMIM:266900 Senior-Loken syndrome 1
- OMIM:606995 Senior-Loken syndrome 3
- OMIM:606996 Senior-Loken syndrome 4
- OMIM:610189 Senior-Loken syndrome 6
- OMIM:613615 Senior-Loken syndrome 7
- OMIM:616629 Senior-Loken syndrome 9
- ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome
- OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- ORPHA:90051 Sepsis in premature infants
- ORPHA:3157 Septo-optic dysplasia spectrum
- OMIM:182230 Septooptic dysplasia
- ORPHA:280195 Septopreoptic holoprosencephaly
- ORPHA:43116 Serotonin syndrome
- ORPHA:157798 Serrated polyposis syndrome
- ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- ORPHA:140896 Severe acute respiratory syndrome
- ORPHA:314911 Severe Canavan disease
- OMIM:102700 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- OMIM:601457 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- OMIM:300400 Severe combined immunodeficiency, X-linked
- ORPHA:171430 Severe congenital nemaline myopathy
- ORPHA:364055 Severe early-childhood-onset retinal dystrophy
- 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:745 Severe hereditary thrombophilia due to congenital protein C deficiency
- ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency
- ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia
- ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- 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:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome
- ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy
- ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- ORPHA:2715 Severe oculo-renal-cerebellar syndrome
- ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:468726 Severe primary trimethylaminuria
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy
- ORPHA:3162 Sézary syndrome
- OMIM:615328 Shaheen syndrome
- OMIM:617190 Shashi-Pena syndrome
- ORPHA:91355 Sheehan syndrome
- ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome
- ORPHA:810 Shigellosis
- ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency
- ORPHA:1505 Short rib-polydactyly syndrome
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- OMIM:618591 Short sleep, familial natural, 2
- 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
- OMIM:615789 Short stature with microcephaly and distinctive facies
- 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
- 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:617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
- ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome
- 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: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
- ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency
- OMIM:615630 Short-Rib thoracic dysplasia 10 with or without polydactyly
- OMIM:615633 Short-Rib thoracic dysplasia 11 with or without polydactyly
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:616300 Short-Rib thoracic dysplasia 13 with or without polydactyly
- OMIM:616546 Short-Rib thoracic dysplasia 14 with polydactyly
- OMIM:617102 Short-Rib thoracic dysplasia 16 with or without polydactyly
- OMIM:617866 Short-Rib thoracic dysplasia 18 with polydactyly
- OMIM:619479 Short-rib thoracic dysplasia 21 without polydactyly
- OMIM:263520 Short-Rib thoracic dysplasia 6 with or without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- OMIM:182210 Shprintzen omphalocele syndrome
- OMIM:182212 Shprintzen-Goldberg craniosynostosis syndrome
- ORPHA:2462 Shprintzen-Goldberg syndrome
- OMIM:301029 Shukla-Vernon 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
- ORPHA:3166 Sialuria
- OMIM:603903 Sickle cell anemia
- ORPHA:232 Sickle cell anemia
- OMIM:618635 Siddiqi syndrome
- OMIM:300263 Siderius X-linked mental retardation syndrome
- OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- OMIM:617159 Sifrim-Hitz-Weiss syndrome
- ORPHA:813 Silver-Russell syndrome
- OMIM:180860 Silver-Russell syndrome 1
- OMIM:618905 Silver-Russell syndrome 2
- OMIM:616489 Silver-Russell syndrome 3
- 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
- ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation
- ORPHA:97337 Sinding-Larsen-Johansson disease
- OMIM:182250 Singleton-Merten syndrome 1
- ORPHA:3169 Sirenomelia
- ORPHA:488437 SIX2-related frontonasal dysplasia
- OMIM:270200 Sjogren-Larsson syndrome
- OMIM:270220 Sjogren-Larsson-Like ichthyosis without CNS or eye involvement
- 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: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:156610 Skin creases, congenital symmetric circumferential, 1
- OMIM:616734 Skin creases, congenital symmetric circumferential, 2
- OMIM:617616 Skraban-Deardorff syndrome
- OMIM:270350 SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL
- ORPHA:356961 SLC35A2-CDG
- ORPHA:468699 SLC39A8-CDG
- OMIM:608236 Slowed nerve conduction velocity, autosomal dominant
- 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
- ORPHA:449285 Snakebite envenomation
- ORPHA:820 Sneddon syndrome
- OMIM:182410 Sneddon syndrome
- OMIM:618205 Snijders blok-campeau syndrome
- OMIM:618604 Snijders Blok-Fisher syndrome
- ORPHA:97230 Solar urticaria
- ORPHA:83468 Solitary bone cyst
- 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
- OMIM:618912 Sorbitol dehydrogenase deficiency with peripheral neuropathy
- ORPHA:821 Sotos syndrome
- OMIM:117550 Sotos syndrome
- ORPHA:279882 Spasmus nutans
- OMIM:108600 Spastic ataxia 1, autosomal dominant
- OMIM:611302 Spastic ataxia 2, autosomal recessive
- OMIM:611390 Spastic ataxia 3, autosomal recessive
- OMIM:613672 Spastic ataxia 4, autosomal recessive
- OMIM:614487 Spastic ataxia 5, autosomal recessive
- OMIM:108650 Spastic ataxia 7, autosomal dominant
- OMIM:617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
- OMIM:618438 Spastic ataxia 9, autosomal recessive
- ORPHA:1182 Spastic ataxia with congenital miosis
- OMIM:270550 Spastic ataxia, Charlevoix-Saguenay type
- ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome
- OMIM:270600 Spastic diplegia, Infantile type
- OMIM:607225 Spastic paralysis, infantile-onset ascending
- OMIM:312910 Spastic paraparesis and deafness
- ORPHA:2815 Spastic paraparesis-deafness syndrome
- OMIM:604187 Spastic paraplegia 10, autosomal dominant
- OMIM:604360 Spastic paraplegia 11, autosomal recessive
- OMIM:604805 Spastic paraplegia 12, autosomal dominant
- OMIM:605280 Spastic paraplegia 13, autosomal dominant
- OMIM:605229 Spastic paraplegia 14, autosomal recessive
- OMIM:270700 Spastic paraplegia 15, autosomal recessive
- OMIM:300266 Spastic paraplegia 16, X-linked
- OMIM:270685 Spastic paraplegia 17
- OMIM:611225 Spastic paraplegia 18, autosomal recessive
- OMIM:607152 Spastic paraplegia 19, autosomal dominant
- OMIM:312920 Spastic paraplegia 2, X-linked
- OMIM:275900 Spastic paraplegia 20, autosomal recessive
- OMIM:270750 Spastic paraplegia 23
- OMIM:607584 Spastic paraplegia 24, autosomal recessive
- OMIM:608220 Spastic paraplegia 25, autosomal recessive
- OMIM:609195 Spastic paraplegia 26, autosomal recessive
- OMIM:609041 Spastic paraplegia 27, autosomal recessive
- OMIM:609340 Spastic paraplegia 28, autosomal recessive
- OMIM:609727 Spastic paraplegia 29, autosomal dominant
- OMIM:182600 Spastic paraplegia 3, autosomal dominant
- OMIM:610357 Spastic paraplegia 30, autosomal recessive
- OMIM:610250 Spastic paraplegia 31, autosomal dominant
- OMIM:611252 Spastic paraplegia 32, autosomal recessive
- OMIM:610244 Spastic paraplegia 33, autosomal dominant
- OMIM:300750 Spastic paraplegia 34, X-linked
- OMIM:612319 Spastic paraplegia 35, autosomal recessive
- OMIM:613096 Spastic paraplegia 36, autosomal dominant
- OMIM:611945 Spastic paraplegia 37, autosomal dominant
- OMIM:612335 Spastic paraplegia 38, autosomal dominant
- OMIM:612020 Spastic paraplegia 39, autosomal recessive
- OMIM:182601 Spastic paraplegia 4, autosomal dominant
- OMIM:613364 Spastic paraplegia 41, autosomal dominant
- OMIM:612539 Spastic paraplegia 42, autosomal dominant
- OMIM:615043 Spastic paraplegia 43, autosomal recessive
- OMIM:613206 Spastic paraplegia 44, autosomal recessive
- OMIM:613162 Spastic paraplegia 45, autosomal recessive
- OMIM:614409 Spastic paraplegia 46, autosomal recessive
- OMIM:614066 Spastic paraplegia 47, autosomal recessive
- OMIM:613647 Spastic paraplegia 48, autosomal recessive
- OMIM:615031 Spastic paraplegia 49, autosomal recessive
- OMIM:612936 Spastic paraplegia 50, autosomal recessive
- OMIM:613744 Spastic paraplegia 51, autosomal recessive
- OMIM:614067 Spastic paraplegia 52, autosomal recessive
- OMIM:614898 Spastic paraplegia 53, autosomal recessive
- OMIM:615033 Spastic paraplegia 54, autosomal recessive
- OMIM:615035 Spastic paraplegia 55, autosomal recessive
- OMIM:615030 Spastic paraplegia 56, autosomal recessive
- OMIM:615658 Spastic paraplegia 57, autosomal recessive
- OMIM:270800 Spastic paraplegia 5A, autosomal recessive
- OMIM:600363 Spastic paraplegia 6, autosomal dominant
- OMIM:615685 Spastic paraplegia 61, autosomal recessive
- OMIM:615681 Spastic paraplegia 62, autosomal recessive
- OMIM:615686 Spastic paraplegia 63, autosomal recessive
- OMIM:615683 Spastic paraplegia 64, autosomal recessive
- OMIM:607259 Spastic paraplegia 7, autosomal recessive
- OMIM:615625 Spastic paraplegia 72, autosomal recessive
- OMIM:616282 Spastic paraplegia 73, autosomal dominant
- OMIM:616451 Spastic paraplegia 74, autosomal recessive
- OMIM:616680 Spastic paraplegia 75, autosomal recessive
- OMIM:616907 Spastic paraplegia 76, autosomal recessive
- OMIM:617046 Spastic paraplegia 77, autosomal recessive
- OMIM:617225 Spastic paraplegia 78, autosomal recessive
- OMIM:615491 Spastic paraplegia 79, autosomal recessive
- OMIM:603563 Spastic paraplegia 8, autosomal dominant
- OMIM:618418 Spastic paraplegia 80, autosomal dominant
- OMIM:618768 Spastic paraplegia 81, autosomal recessive
- OMIM:618770 Spastic paraplegia 82, autosomal recessive
- OMIM:619027 Spastic paraplegia 83, autosomal recessive
- OMIM:619621 Spastic paraplegia 84, autosomal recessive
- OMIM:619686 Spastic paraplegia 85, autosomal recessive
- OMIM:619735 Spastic paraplegia 86, autosomal recessive
- OMIM:619966 Spastic paraplegia 87, autosomal recessive
- OMIM:601162 Spastic paraplegia 9A, autosomal dominant
- OMIM:616586 Spastic paraplegia 9B, autosomal recessive
- OMIM:601608 Spastic paraplegia and Evans syndrome
- OMIM:616756 Spastic paraplegia and psychomotor retardation with or without seizures
- ORPHA:99015 Spastic paraplegia type 2
- ORPHA:99013 Spastic paraplegia type 7
- OMIM:182800 Spastic paraplegia with associated extrapyramidal signs
- OMIM:182815 Spastic paraplegia with neuropathy and poikiloderma
- OMIM:607565 Spastic paraplegia, ataxia, and mental retardation
- OMIM:617296 Spastic paraplegia, intellectual disability, nystagmus, and obesity
- OMIM:182830 Spastic paraplegia, optic atrophy, and dementia
- OMIM:609541 Spastic paraplegia, optic atrophy, and neuropathy
- OMIM:182690 Spastic paraplegia, sensorineural deafness, mental retardation, and
- ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome
- ORPHA:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome
- ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome
- ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome
- ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome
- ORPHA:2826 Spastic paraplegia-precocious puberty syndrome
- ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome
- OMIM:270850 Spastic paresis, glaucoma, and mental retardation
- OMIM:270950 Spastic quadriplegia, retinitis pigmentosa, and mental retardation
- OMIM:618598 Spastic tetraplegia and axial hypotonia, progressive
- OMIM:616657 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
- ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
- ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- OMIM:616859 Spasticity, childhood-onset, with hyperglycinemia
- OMIM:313000 Spatial visualization, aptitude for
- OMIM:245480 Specific granule deficiency
- OMIM:617475 Specific granule deficiency 2
- OMIM:606711 Specific language impairment 1
- OMIM:606712 Specific language impairment 2
- OMIM:615432 Specific language impairment 5
- ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia
- OMIM:182875 Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease
- OMIM:602081 Speech-language disorder-1
- OMIM:615841 Spermatogenic failure 13
- OMIM:615842 Spermatogenic failure 14
- OMIM:618086 Spermatogenic failure 28
- OMIM:619949 Spermatogenic failure 75
- OMIM:620103 Spermatogenic failure 77
- OMIM:301077 Spermatogenic failure, X-linked, 4
- ORPHA:3176 Spina bifida-hypospadias syndrome
- OMIM:182950 Spinal arachnoiditis
- ORPHA:53721 Spinal arteriovenous metameric syndrome
- OMIM:182990 Spinal intradural arachnoid cysts
- OMIM:616866 Spinal muscular atrophy with congenital bone fractures 1
- OMIM:616867 Spinal muscular atrophy with congenital bone fractures 2
- OMIM:271109 Spinal muscular atrophy with mental retardation
- OMIM:271110 Spinal muscular atrophy with microcephaly and mental subnormality
- OMIM:159950 Spinal muscular atrophy with progressive myoclonic epilepsy
- OMIM:604320 Spinal muscular atrophy, distal, autosomal recessive, 1
- OMIM:605726 Spinal muscular atrophy, distal, autosomal recessive, 2
- OMIM:611067 Spinal muscular atrophy, distal, autosomal recessive, 4
- OMIM:614881 Spinal muscular atrophy, distal, autosomal recessive, 5
- OMIM:620011 Spinal muscular atrophy, distal, autosomal recessive, 6
- OMIM:300489 Spinal muscular atrophy, distal, X-linked 3
- OMIM:619042 Spinal muscular atrophy, infantile, James type
- OMIM:615048 Spinal muscular atrophy, Jokela type
- OMIM:158600 Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant
- OMIM:615290 Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant
- OMIM:618291 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
- OMIM:182980 Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included
- OMIM:271200 Spinal muscular atrophy, Ryukyuan type
- OMIM:183020 Spinal muscular atrophy, segmental
- OMIM:271225 Spinal muscular atrophy, type I, with congenital bone fractures
- OMIM:301830 Spinal muscular atrophy, X-linked 2
- ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- OMIM:604432 Spinocerebellar ataxia 11
- OMIM:605259 Spinocerebellar ataxia 13
- OMIM:605361 Spinocerebellar ataxia 14
- OMIM:606658 Spinocerebellar ataxia 15
- OMIM:607458 Spinocerebellar ataxia 18
- OMIM:607346 Spinocerebellar ataxia 19
- OMIM:608687 Spinocerebellar ataxia 20
- OMIM:607454 Spinocerebellar ataxia 21
- OMIM:610245 Spinocerebellar ataxia 23
- OMIM:608703 Spinocerebellar ataxia 25
- OMIM:609306 Spinocerebellar ataxia 26
- OMIM:610246 Spinocerebellar ataxia 28
- OMIM:117360 Spinocerebellar ataxia 29, congenital nonprogressive
- OMIM:613371 Spinocerebellar ataxia 30
- OMIM:613909 Spinocerebellar ataxia 32
- OMIM:133190 Spinocerebellar ataxia 34
- OMIM:613908 Spinocerebellar ataxia 35
- OMIM:615957 Spinocerebellar ataxia 38
- OMIM:600223 Spinocerebellar ataxia 4
- OMIM:616053 Spinocerebellar ataxia 40
- OMIM:616410 Spinocerebellar ataxia 41
- OMIM:616795 Spinocerebellar ataxia 42
- OMIM:618087 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
- OMIM:617018 Spinocerebellar ataxia 43
- OMIM:617691 Spinocerebellar ataxia 44
- OMIM:617769 Spinocerebellar ataxia 45
- OMIM:617770 Spinocerebellar ataxia 46
- OMIM:617931 Spinocerebellar ataxia 47
- OMIM:618093 Spinocerebellar ataxia 48
- OMIM:619806 Spinocerebellar ataxia 49
- OMIM:600224 Spinocerebellar ataxia 5
- ORPHA:98767 Spinocerebellar ataxia type 11
- ORPHA:98768 Spinocerebellar ataxia type 13
- ORPHA:98763 Spinocerebellar ataxia type 14
- ORPHA:98769 Spinocerebellar ataxia type 15/16
- ORPHA:98771 Spinocerebellar ataxia type 18
- ORPHA:98772 Spinocerebellar ataxia type 19/22
- ORPHA:101110 Spinocerebellar ataxia type 20
- ORPHA:98773 Spinocerebellar ataxia type 21
- ORPHA:101108 Spinocerebellar ataxia type 23
- ORPHA:101111 Spinocerebellar ataxia type 25
- ORPHA:101112 Spinocerebellar ataxia type 26
- ORPHA:98764 Spinocerebellar ataxia type 27
- ORPHA:101109 Spinocerebellar ataxia type 28
- ORPHA:208513 Spinocerebellar ataxia type 29
- ORPHA:98757 Spinocerebellar ataxia type 3
- ORPHA:211017 Spinocerebellar ataxia type 30
- ORPHA:276183 Spinocerebellar ataxia type 32
- ORPHA:1955 Spinocerebellar ataxia type 34
- ORPHA:276193 Spinocerebellar ataxia type 35
- ORPHA:423296 Spinocerebellar ataxia type 38
- ORPHA:98765 Spinocerebellar ataxia type 4
- ORPHA:423275 Spinocerebellar ataxia type 40
- ORPHA:458798 Spinocerebellar ataxia type 41
- ORPHA:458803 Spinocerebellar ataxia type 42
- ORPHA:497764 Spinocerebellar ataxia type 43
- ORPHA:98766 Spinocerebellar ataxia type 5
- ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1
- ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2
- OMIM:271270 Spinocerebellar ataxia with dysmorphism
- OMIM:183050 Spinocerebellar ataxia with rigidity and peripheral neuropathy
- OMIM:606002 Spinocerebellar ataxia, autosomal recessive 1
- OMIM:613728 Spinocerebellar ataxia, autosomal recessive 10
- OMIM:614229 Spinocerebellar ataxia, autosomal recessive 11
- OMIM:614322 Spinocerebellar ataxia, autosomal recessive 12
- OMIM:614831 Spinocerebellar ataxia, autosomal recessive 13
- OMIM:615386 Spinocerebellar ataxia, autosomal recessive 14
- OMIM:615705 Spinocerebellar ataxia, autosomal recessive 15
- OMIM:615768 Spinocerebellar ataxia, autosomal recessive 16
- OMIM:616127 Spinocerebellar ataxia, autosomal recessive 17
- OMIM:616204 Spinocerebellar ataxia, autosomal recessive 18
- OMIM:213200 Spinocerebellar ataxia, autosomal recessive 2
- OMIM:616354 Spinocerebellar ataxia, autosomal recessive 20
- OMIM:616719 Spinocerebellar ataxia, autosomal recessive 21
- OMIM:616948 Spinocerebellar ataxia, autosomal recessive 22
- OMIM:616949 Spinocerebellar ataxia, autosomal recessive 23
- OMIM:617133 Spinocerebellar ataxia, autosomal recessive 24
- OMIM:617584 Spinocerebellar ataxia, autosomal recessive 25
- OMIM:617633 Spinocerebellar ataxia, autosomal recessive 26
- OMIM:618369 Spinocerebellar ataxia, autosomal recessive 27
- OMIM:618800 Spinocerebellar ataxia, autosomal recessive 28
- OMIM:619389 Spinocerebellar ataxia, autosomal recessive 29
- OMIM:271250 Spinocerebellar ataxia, autosomal recessive 3
- OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30
- OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31
- OMIM:619862 Spinocerebellar ataxia, autosomal recessive 32
- OMIM:607317 Spinocerebellar ataxia, autosomal recessive 4
- OMIM:608029 Spinocerebellar ataxia, autosomal recessive 6
- OMIM:609270 Spinocerebellar ataxia, autosomal recessive 7
- OMIM:610743 Spinocerebellar ataxia, autosomal recessive 8
- OMIM:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- OMIM:618387 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
- OMIM:302500 Spinocerebellar ataxia, X-linked 1
- OMIM:302600 Spinocerebellar ataxia, X-linked 2
- OMIM:300703 Spinocerebellar ataxia, X-linked 5
- ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome
- OMIM:183100 Spinocerebellar atrophy with pupillary paralysis
- OMIM:271310 Spinocerebellar degeneration and corneal dystrophy
- OMIM:271320 Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia
- OMIM:271322 Spinocerebellar degeneration with slow eye movements
- ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome
- ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome
- OMIM:614979 Splenomegaly, cytopenia, and vision loss
- OMIM:271500 Splenoportal vascular anomalies
- ORPHA:573278 Split cord malformation
- ORPHA:1671 Split cord malformation type I
- OMIM:183802 Split-Hand with obstructive uropathy, spina bifida, and diaphragmaticdefects
- OMIM:183600 Split-Hand/foot malformation 1
- OMIM:246560 Split-Hand/foot malformation 3
- ORPHA:93357 SPONASTRIME dysplasia
- OMIM:613330 Spondylo-megaepiphyseal-metaphyseal dysplasia
- ORPHA:85194 Spondylo-ocular syndrome
- OMIM:613686 Spondylocostal dysostosis 4, autosomal recessive
- OMIM:122600 Spondylocostal dysostosis 5
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- OMIM:601668 Spondyloepimetaphyseal dysplasia with abnormal dentition
- 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
- OMIM:608728 Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type
- OMIM:617974 Spondyloepimetaphyseal dysplasia, DI Rocco type
- OMIM:616723 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
- OMIM:610442 Spondyloepimetaphyseal dysplasia, Genevieve type
- ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type
- ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type
- OMIM:271650 Spondyloepimetaphyseal dysplasia, Irapa type
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type
- OMIM:602111 Spondyloepimetaphyseal dysplasia, Missouri 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:600093 Spondyloepiphyseal dysplasia tarda with characteristic facies
- OMIM:271620 Spondyloepiphyseal dysplasia tarda with mental retardation
- ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type
- OMIM:600561 Spondyloepiphyseal dysplasia with atlantoaxial instability
- OMIM:143095 Spondyloepiphyseal dysplasia with congenital joint dislocations
- OMIM:618392 Spondyloepiphyseal dysplasia, Kondo-Fu type
- OMIM:184095 Spondyloepiphyseal dysplasia, Maroteaux 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:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- OMIM:271665 Spondylometaepiphyseal dysplasia, short Limb-Hand type
- OMIM:618961 Spondylometaphyseal dysplasia with corneal dystrophy
- OMIM:184255 Spondylometaphyseal dysplasia, corner Fracture type
- OMIM:184252 Spondylometaphyseal dysplasia, Kozlowski type
- ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type
- OMIM:613320 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
- OMIM:250220 Spondylometaphyseal dysplasia, Sedaghatian type
- ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type
- OMIM:313420 Spondylometaphyseal dysplasia, X-linked
- ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- OMIM:605822 Spondyloocular syndrome
- OMIM:184300 Spondylosis, cervical
- OMIM:606688 Spongiform encephalopathy with neuropsychiatric features
- ORPHA:29822 Spontaneous periodic hypothermia
- ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology
- ORPHA:204 Sporadic Creutzfeldt-Jakob disease
- ORPHA:1665 Sporadic fetal brain disruption sequence
- ORPHA:225147 Sporadic infantile bilateral striatal necrosis
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- OMIM:184400 Sprengel deformity
- ORPHA:3181 Sprengel deformity
- OMIM:618156 Squalene synthase deficiency
- ORPHA:324737 SRD5A3-CDG
- ORPHA:370927 SSR4-CDG
- ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- OMIM:617516 Stankiewicz-Isidor syndrome
- ORPHA:36238 Staphylococcal necrotizing pneumonia
- OMIM:612948 Stargardt macular degeneration, absent or hypoplastic corpus callosum,mental retardation, and dysmorphic features
- OMIM:615155 Steel syndrome
- OMIM:184705 Steinfeld syndrome
- ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- ORPHA:36426 Stevens-Johnson syndrome
- ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- OMIM:611961 Stevenson-Carey syndrome
- ORPHA:828 Stickler syndrome
- ORPHA:90653 Stickler syndrome type 1
- OMIM:620022 Stickler syndrome, type VI
- ORPHA:3198 Stiff person spectrum disorder
- ORPHA:2833 Stiff skin syndrome
- OMIM:184900 Stiff skin syndrome
- OMIM:184850 Stiff-Person syndrome
- ORPHA:3199 Stimmler syndrome
- 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:609161 Striatal degeneration, autosomal dominant
- OMIM:616922 Striatal degeneration, autosomal dominant 2
- OMIM:617054 Striatonigral degeneration, childhood-onset
- OMIM:271930 Striatonigral degeneration, infantile
- OMIM:500003 Striatonigral degeneration, infantile, mitochondrial
- OMIM:243605 Stromme syndrome
- OMIM:618736 Structural brain anomalies with impaired intellectual development and craniosynostosis
- OMIM:617478 Structural heart defects and renal anomalies syndrome
- ORPHA:370921 STT3A-CDG
- ORPHA:370924 STT3B-CDG
- OMIM:185300 Sturge-Weber syndrome
- ORPHA:3205 Sturge-Weber syndrome
- OMIM:184450 Stuttering, familial persistent, 1
- OMIM:601559 Stuve-Wiedemann syndrome
- OMIM:619751 Stuve-Wiedemann syndrome 2
- ORPHA:3206 Stüve-Wiedemann syndrome
- ORPHA:101029 Sub-cortical nodular heterotopia
- ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- ORPHA:101030 Subependymal nodular heterotopia
- ORPHA:251639 Subependymoma
- OMIM:271980 Succinic semialdehyde dehydrogenase deficiency
- ORPHA:22 Succinic semialdehyde dehydrogenase deficiency
- OMIM:272000 Sucrosuria, hiatus hernia and mental retardation
- OMIM:617222 Sudden cardiac failure, infantile
- 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:619221 Sulfide:quinone oxidoreductase deficiency
- OMIM:272300 SULFOCYSTEINURIA
- OMIM:272350 Summitt syndrome
- ORPHA:3210 Summitt syndrome
- ORPHA:57145 SUNCT syndrome
- ORPHA:247245 Superficial siderosis
- OMIM:601708 Superior transverse scapular ligament, calcification of, familial
- OMIM:185480 Suprabulbar paresis, congenital
- OMIM:260540 Supranuclear palsy, progressive atypical
- OMIM:601104 Supranuclear palsy, progressive, 1
- OMIM:609454 Supranuclear palsy, progressive, 2
- OMIM:610913 Surfactant metabolism dysfunction, pulmonary, 2
- ORPHA:838 Susac syndrome
- OMIM:617746 Sweeney-Cox syndrome
- ORPHA:306731 Sydenham chorea
- ORPHA:1314 Symmetrical thalamic calcifications
- ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers
- ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- ORPHA:98915 Synaptic congenital myasthenic syndromes
- ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:84064 Syndromic diarrhea
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:281090 Syndromic recessive X-linked ichthyosis
- OMIM:300218 Syndromic X-linked intellectual disability 7
- ORPHA:85274 Syndromic X-linked intellectual disability 7
- ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy
- OMIM:186700 Syringomyelia, isolated
- OMIM:152700 Systemic lupus erythematosus
- OMIM:301080 Systemic lupus erythematosus 17
- OMIM:609939 Systemic lupus erythematosus, susceptibility to, 6
- ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm
- ORPHA:158 Systemic primary carnitine deficiency
- ORPHA:90291 Systemic sclerosis
Code pathologie
Nom de la pathologie
- OMIM:276200 T-SUBSTANCE ANOMALY
- ORPHA:3287 Takayasu arteritis
- OMIM:616737 Takenouchi-Kosaki syndrome
- ORPHA:66529 Tako-Tsubo cardiomyopathy
- ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome
- OMIM:205400 Tangier disease
- ORPHA:31150 Tangier disease
- OMIM:272600 Tapetoretinal degeneration with ataxia
- OMIM:272620 Tardive dyskinesia
- OMIM:311900 Tarp syndrome
- ORPHA:2886 TARP syndrome
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- OMIM:615879 Tatton-Brown-Rahman syndrome
- ORPHA:845 Tay-Sachs disease
- OMIM:272800 Tay-Sachs disease
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:145420 Teebi hypertelorism syndrome 1
- OMIM:619736 Teebi hypertelorism syndrome 2
- OMIM:272950 Teebi-Shaltout syndrome
- OMIM:187300 Telangiectasia, hereditary hemorrhagic, type 1
- OMIM:600376 Telangiectasia, hereditary hemorrhagic, type 2
- OMIM:610655 Telangiectasia, hereditary hemorrhagic, type 4
- OMIM:187350 TELECANTHUS
- ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder
- ORPHA:284227 TEMPI syndrome
- ORPHA:254516 Temple syndrome
- OMIM:616222 Temple syndrome
- ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
- ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation
- ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion
- OMIM:611816 Temple-Baraitser syndrome
- ORPHA:420561 Temple-Baraitser syndrome
- OMIM:605282 Temtamy preaxial brachydactyly syndrome
- ORPHA:363417 Temtamy preaxial brachydactyly syndrome
- OMIM:218340 Temtamy syndrome
- ORPHA:1777 Temtamy syndrome
- OMIM:616260 Tenorio syndrome
- OMIM:187395 Teratocarcinoma-Derived growth factor 1
- OMIM:273120 Teratoma, pineal
- OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1
- OMIM:619759 Tessadori-van Haaften neurodevelopmental syndrome 2
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- OMIM:619951 Tessadori-van Haaften neurodevelopmental syndrome 4
- ORPHA:325124 Testicular agenesis
- ORPHA:3299 Tetanus
- OMIM:273390 Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities
- OMIM:273395 Tetraamelia, autosomal recessive
- ORPHA:3301 Tetraamelia-multiple malformations syndrome
- ORPHA:199310 Tetragametic chimerism
- OMIM:273400 Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities
- ORPHA:3305 Tetraploidy
- ORPHA:884 Tetrasomy 12p
- ORPHA:3307 Tetrasomy 18p
- ORPHA:3309 Tetrasomy 5p
- ORPHA:3310 Tetrasomy 9p
- ORPHA:9 Tetrasomy X
- ORPHA:1780 Thakker-Donnai syndrome
- ORPHA:2655 Thanatophoric dysplasia
- ORPHA:1860 Thanatophoric dysplasia type 1
- ORPHA:93274 Thanatophoric dysplasia type 2
- OMIM:187600 Thanatophoric dysplasia, type I
- OMIM:617107 Thauvin-Robinet-Faivre syndrome
- OMIM:607483 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
- OMIM:613710 Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)
- OMIM:614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
- ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome
- OMIM:249270 Thiamine-Responsive megaloblastic anemia syndrome
- ORPHA:98960 Thiel-Behnke corneal dystrophy
- ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- OMIM:273730 Thoracic dysplasia-hydrocephalus syndrome
- ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome
- ORPHA:97330 Thoracic outlet syndrome
- ORPHA:1759 Thoraco-abdominal enteric duplication
- OMIM:313850 Thoracoabdominal syndrome
- ORPHA:1803 Thoracomelic dysplasia
- OMIM:273770 THREONINEMIA
- OMIM:614521 Thrombocythemia 3
- OMIM:188025 Thrombocytopenia, Paris-Trousseau type
- OMIM:612304 Thrombophilia due to protein C deficiency, autosomal recessive
- OMIM:614514 Thrombophilia due to protein S deficiency, autosomal recessive
- OMIM:176860 Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant
- ORPHA:54057 Thrombotic thrombocytopenic purpura
- OMIM:274150 Thrombotic thrombocytopenic purpura, hereditary
- 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
- OMIM:274205 Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness
- OMIM:314100 Thumbs, congenital clasped
- OMIM:188201 Thumbs, stiff, with brachydactyly type A1 and developmental delay
- ORPHA:83471 Thymic aplasia
- ORPHA:99868 Thymic carcinoma
- ORPHA:97289 Thymic neuroendocrine tumor
- ORPHA:100100 Thymic tumor
- ORPHA:99867 Thymoma
- ORPHA:3327 Thyrocerebrorenal syndrome
- OMIM:274240 Thyrocerebroretinal syndrome
- ORPHA:95712 Thyroid ectopia
- ORPHA:95719 Thyroid hemiagenesis
- OMIM:609698 Thyroid hormone metabolism, abnormal
- OMIM:188570 Thyroid hormone resistance, generalized, autosomal dominant
- OMIM:274300 Thyroid hormone resistance, generalized, autosomal recessive
- OMIM:145650 Thyroid hormone resistance, selective pituitary
- OMIM:274400 Thyroid hormonogenesis, genetic defect in, 1
- OMIM:274700 Thyroid hormonogenesis, genetic defect in, 3
- OMIM:274800 Thyroid hormonogenesis, genetic defect in, 4
- OMIM:274900 Thyroid hormonogenesis, genetic defect in, 5
- ORPHA:95720 Thyroid hypoplasia
- ORPHA:97285 Thyroid lymphoma
- ORPHA:79102 Thyrotoxic periodic paralysis
- OMIM:188580 Thyrotoxic periodic paralysis, susceptibility to, 1
- OMIM:613239 Thyrotoxic periodic paralysis, susceptibility to, 2
- OMIM:275120 Thyrotropin-Releasing hormone deficiency
- OMIM:601027 Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies
- ORPHA:93322 Tibial hemimelia
- ORPHA:609 Tibial muscular dystrophy
- OMIM:600334 Tibial muscular dystrophy, tardive
- ORPHA:297 Tick-borne encephalitis
- OMIM:601005 Timothy syndrome
- ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy
- OMIM:300707 Toe syndactyly, telecanthus, and anogenital and renal malformations
- OMIM:618971 Tolchin-Le Caignec syndrome
- ORPHA:1920 Toluene embryopathy
- OMIM:300978 Tonne-Kalscheuer syndrome
- OMIM:150400 Tooth agenesis, selective, 4
- ORPHA:3339 Toriello-Lacassie-Droste syndrome
- OMIM:602554 Torsion dystonia with onset in infancy
- OMIM:189600 TORTICOLLIS
- OMIM:314300 Torticollis, keloids, cryptorchidism, and renal dysplasia
- ORPHA:857 Townes-Brocks syndrome
- OMIM:107480 Townes-Brocks syndrome 1
- OMIM:617466 Townes-Brocks syndrome 2
- ORPHA:537 Toxic epidermal necrolysis
- ORPHA:230800 Toxin-mediated infectious botulism
- ORPHA:101028 Transaldolase deficiency
- OMIM:193090 Transcobalamin I deficiency
- OMIM:275350 Transcobalamin II deficiency
- ORPHA:99886 Transient neonatal diabetes mellitus
- ORPHA:488618 Transketolase deficiency
- ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18
- OMIM:154500 Treacher Collins syndrome 1
- OMIM:613717 Treacher collins syndrome 2
- ORPHA:861 Treacher-Collins syndrome
- OMIM:618939 Treacher-Collins syndrome 4
- OMIM:190200 Tremor of intention, ataxia, and lipofuscinosis
- OMIM:190300 Tremor, hereditary essential, 1
- OMIM:602134 Tremor, hereditary essential, 2
- OMIM:614782 Tremor, hereditary essential, 4
- OMIM:616736 Tremor, hereditary essential, 5
- OMIM:618866 Tremor, hereditary essential, 6
- OMIM:611808 Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus
- OMIM:190310 Tremor, nystagmus, and duodenal ulcer
- ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome
- ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome
- OMIM:275370 Tricarboxylic acid cycle, defect of
- ORPHA:863 Trichinellosis
- OMIM:601453 Trichodental dysplasia
- OMIM:222470 Trichohepatoenteric syndrome 1
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- 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:619691 Trichothiodystrophy 8, nonphotosensitive
- OMIM:619692 Trichothiodystrophy 9, nonphotosensitive
- OMIM:613229 TRICHOTILLOMANIA
- OMIM:190400 Trigeminal neuralgia
- ORPHA:221091 Trigeminal neuralgia
- OMIM:190420 Triglyceride storage disease, type I
- OMIM:275595 Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalitiesof the hands and feet
- OMIM:190440 Trigonocephaly 1
- OMIM:614485 Trigonocephaly 2
- 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:602079 Trimethylaminuria
- OMIM:618805 Triokinase and FMN cyclase deficiency syndrome
- ORPHA:3374 Triopia
- ORPHA:868 Triose phosphate-isomerase deficiency
- OMIM:615512 Triosephosphate isomerase deficiency
- ORPHA:869 Triple A syndrome
- ORPHA:3376 Triploidy
- ORPHA:171929 Trisomy 10p
- ORPHA:1699 Trisomy 12p
- ORPHA:3378 Trisomy 13
- ORPHA:261290 Trisomy 17p
- ORPHA:3380 Trisomy 18
- ORPHA:1715 Trisomy 18p
- ORPHA:261344 Trisomy 1q
- ORPHA:261318 Trisomy 20p
- ORPHA:1738 Trisomy 4p
- ORPHA:1742 Trisomy 5p
- ORPHA:264450 Trisomy 8p
- ORPHA:1752 Trisomy 8q
- ORPHA:236 Trisomy 9p
- ORPHA:3375 Trisomy X
- ORPHA:88629 Tritanopia
- OMIM:276100 Tryptophanuria with dwarfism
- ORPHA:91347 TSH-secreting pituitary adenoma
- ORPHA:805 Tuberous sclerosis complex
- OMIM:191100 Tuberous sclerosis-1
- OMIM:613254 Tuberous sclerosis-2
- ORPHA:2593 Tubular aggregate myopathy
- ORPHA:467166 Tubulinopathy-associated dysgyria
- OMIM:174000 Tubulointerstitial kidney disease, autosomal dominant, 2
- OMIM:617056 Tubulointerstitial kidney disease, autosomal dominant, 5
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- ORPHA:1063 Tufted angioma
- ORPHA:3392 Tularemia
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:614327 Tumor predisposition syndrome
- OMIM:619975 Tumor predisposition syndrome 2
- OMIM:617994 Tumoral calcinosis, hyperphosphatemic, familial, 3
- ORPHA:99818 Turcot syndrome with polyposis
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:618371 Turnpenny-Fry syndrome
- ORPHA:99745 Typhoid
- ORPHA:171436 Typical nemaline myopathy
- OMIM:276600 Tyrosine transaminase deficiency
- ORPHA:28378 Tyrosinemia type 2
- OMIM:276700 Tyrosinemia, type I
- OMIM:276710 Tyrosinemia, type III
- OMIM:615102 Tyshchenko syndrome
Code pathologie
Nom de la pathologie
- OMIM:254090 Ullrich congenital muscular dystrophy 1
- OMIM:616470 Ullrich congenital muscular dystrophy 2
- OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency
- ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome
- ORPHA:93320 Ulnar hemimelia
- OMIM:276821 Ulnar hypoplasia with mental retardation
- OMIM:181450 Ulnar-Mammary syndrome
- ORPHA:268947 Unilateral focal polymicrogyria
- ORPHA:101071 Unilateral hemispheric polymicrogyria
- ORPHA:268943 Unilateral polymicrogyria
- ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome
- OMIM:247100 Urbach-Wiethe disease
- ORPHA:3409 Urban-Rogers-Meyer syndrome
- ORPHA:94059 Uremic pruritus
- OMIM:276880 Urocanase deficiency
- ORPHA:210128 Urocanic aciduria
- OMIM:300280 Uruguay faciocardiomusculoskeletal syndrome
- ORPHA:886 Usher syndrome
- ORPHA:231169 Usher syndrome type 1
- ORPHA:231178 Usher syndrome type 2
- ORPHA:231183 Usher syndrome type 3
- OMIM:276900 Usher syndrome, type I
- OMIM:602097 Usher syndrome, type IE
- OMIM:602083 Usher syndrome, type IF
- OMIM:614504 Usher syndrome, type IIIB
- OMIM:614869 Usher syndrome, type IJ
- OMIM:614990 Usher syndrome, type IK
- OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant
- OMIM:619548 Usmani-Riazuddin syndrome, autosomal recessive
- OMIM:600630 UV-sensitive syndrome 1
- ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability
Code pathologie
Nom de la pathologie
- OMIM:276950 Vacterl association with hydrocephalus
- OMIM:314390 VACTERL association, X-linked
- ORPHA:3412 VACTERL with hydrocephalus
- ORPHA:887 VACTERL/VATER association
- OMIM:601846 Vacuolar neuromyopathy
- OMIM:277100 VALINEMIA
- OMIM:277150 Van bogaert-hozay syndrome
- OMIM:314500 Van den bosch syndrome
- ORPHA:3417 Van den Bosch syndrome
- OMIM:600920 Van den Ende-Gupta syndrome
- OMIM:301030 Van Esch-O'Driscoll syndrome
- OMIM:601390 Van Maldergem syndrome 1
- OMIM:615546 Van maldergem syndrome 2
- ORPHA:314652 Variant ABeta2M amyloidosis
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:277175 Vascular hyalinosis
- OMIM:606893 Vascular malformation, primary intraosseous
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy
- OMIM:192350 Vater associationvacterl association, included
- ORPHA:1053 Vein of Galen aneurysmal malformation
- OMIM:192430 Velocardiofacial syndrome
- OMIM:600736 Velofacioskeletal syndrome
- ORPHA:505395 Ventilator-induced diaphragmatic dysfunction
- ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
- OMIM:604772 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy
- OMIM:611938 Ventricular tachycardia, catecholaminergic polymorphic, 2
- OMIM:619501 Ventriculomegaly and arthrogryposis
- OMIM:219730 Ventriculomegaly with cystic kidney disease
- OMIM:602200 Ventriculomegaly with defects of the radius and kidney
- OMIM:615583 Verheij syndrome
- ORPHA:70476 Vernal keratoconjunctivitis
- 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:201475 Very long-chain acyl-CoA dehydrogenase deficiency
- OMIM:193005 Vestibulocochlear dysfunction, progressive
- OMIM:193007 Vestibulopathy, familial
- OMIM:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- ORPHA:97282 VIPoma
- OMIM:155310 Visceral myopathy 1
- OMIM:619350 Visceral myopathy 2
- OMIM:277320 Visceral myopathy, familial, with external ophthalmoplegia
- OMIM:619465 Visceral neuropathy, familial, 2, autosomal recessive
- OMIM:243180 Visceral neuropathy, familial, autosomal recessive
- ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- OMIM:228100 Visceral steatosis, congenital
- OMIM:619472 VISS syndrome
- OMIM:619033 Vissers-Bodmer syndrome
- ORPHA:28 Vitamin B12-responsive methylmalonic acidemia
- ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia
- ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-
- ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0
- OMIM:264700 Vitamin D hydroxylation-deficient rickets, type 1A
- OMIM:600081 Vitamin D hydroxylation-deficient rickets, type 1B
- OMIM:619073 Vitamin d-dependent rickets, type 3
- ORPHA:1914 Vitamin K antagonist embryofetopathy
- OMIM:277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
- ORPHA:600 Vocal cord and pharyngeal distal myopathy
- OMIM:193240 Vocal cord paralysis and ptosis
- ORPHA:3437 Vogt-Koyanagi-Harada disease
- ORPHA:892 Von Hippel-Lindau disease
- OMIM:193300 von Hippel-Lindau syndrome
- ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy
- OMIM:615828 Vulto-van Silfout-de Vries syndrome
Code pathologie
Nom de la pathologie
- ORPHA:2804 W syndrome
- ORPHA:3440 Waardenburg syndrome
- ORPHA:894 Waardenburg syndrome type 1
- ORPHA:895 Waardenburg syndrome type 2
- ORPHA:896 Waardenburg syndrome type 3
- OMIM:193500 Waardenburg syndrome, type 1
- OMIM:611584 Waardenburg syndrome, type 2E
- OMIM:148820 Waardenburg syndrome, type 3
- OMIM:613265 Waardenburg syndrome, type 4B
- OMIM:613266 Waardenburg syndrome, type 4C
- ORPHA:897 Waardenburg-Shah syndrome
- OMIM:277580 Waardenburg-Shah syndrome
- ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- ORPHA:893 WAGR syndrome
- OMIM:612469 WAGRO syndrome
- OMIM:311510 Waisman syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- ORPHA:899 Walker-Warburg syndrome
- OMIM:600118 Warburg micro syndrome 1
- OMIM:614225 Warburg micro syndrome 2
- OMIM:614222 Warburg micro syndrome 3
- OMIM:615663 Warburg micro syndrome 4
- ORPHA: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
- OMIM:615926 Webb-Dattani syndrome
- ORPHA:3449 Weill-Marchesani syndrome
- OMIM:277600 Weill-Marchesani syndrome 1
- OMIM:608328 Weill-Marchesani syndrome 2, dominant
- ORPHA:3344 Weismann-Netter syndrome
- OMIM:112350 Weismann-Netter syndrome
- OMIM:618619 Weiss-Kruszka syndrome
- OMIM:604454 Welander distal myopathy
- ORPHA:902 Werner syndrome
- OMIM:277700 Werner syndrome
- OMIM:277730 Wernicke-Korsakoff syndrome
- ORPHA:51636 WHIM syndrome
- ORPHA:3452 Whipple disease
- ORPHA:2475 White forelock with malformations
- 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:85446 Wild type ABeta2M amyloidosis
- ORPHA:330001 Wild type ATTR amyloidosis
- OMIM:314600 Wildervanck syndrome
- ORPHA:3456 Wildervanck syndrome
- 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:277900 Wilson disease
- OMIM:309585 Wilson-Turner syndrome
- ORPHA:3459 Wilson-Turner syndrome
- ORPHA:906 Wiskott-Aldrich syndrome
- OMIM:301000 Wiskott-Aldrich syndrome
- OMIM:600903 Wiskott-Aldrich syndrome, autosomal dominant form
- OMIM:613406 Witteveen-Kolk syndrome
- ORPHA:1667 Wolcott-Rallison syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:280 Wolf-Hirschhorn syndrome
- ORPHA:3463 Wolfram syndrome
- OMIM:222300 Wolfram syndrome 1
- OMIM:604928 Wolfram syndrome 2
- OMIM:598500 Wolfram syndrome, mitochondrial form
- ORPHA:411590 Wolfram-like syndrome
- OMIM:614296 Wolfram-Like syndrome, autosomal dominant
- ORPHA:75233 Wolman disease
- ORPHA:3464 Woodhouse-Sakati syndrome
- OMIM:241080 Woodhouse-Sakati syndrome
- OMIM:615236 Woods syndrome
- ORPHA:3465 Worster-Drought syndrome
- ORPHA:178475 Wound botulism
- OMIM:278250 Wrinkly skin syndrome
- ORPHA:2834 Wrinkly skin syndrome
- ORPHA:53719 Wyburn-Mason syndrome
Code pathologie
Nom de la pathologie
- ORPHA:96201 X small rings
- ORPHA:300373 X-linked acrogigantism
- ORPHA:43 X-linked adrenoleukodystrophy
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:596 X-linked centronuclear myopathy
- ORPHA:139396 X-linked cerebral adrenoleukodystrophy
- ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome
- ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1
- ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2
- ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3
- ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4
- ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5
- ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6
- ORPHA:1497 X-linked complicated corpus callosum dysgenesis
- ORPHA:306617 X-linked complicated spastic paraplegia type 1
- ORPHA:52503 X-linked creatine transporter deficiency
- ORPHA:35173 X-linked dominant chondrodysplasia punctata
- ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type
- ORPHA:53351 X-linked dystonia-parkinsonism
- ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy
- ORPHA:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:181 X-linked hypohidrotic ectodermal dysplasia
- ORPHA:89936 X-linked hypophosphatemia
- ORPHA:2571 X-linked immunoneurologic disorder
- ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations
- ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency
- OMIM:300262 X-LINKED intellectual disability, Abidi type
- ORPHA:85273 X-linked intellectual disability, Abidi type
- ORPHA:85276 X-linked intellectual disability, Armfield type
- ORPHA:85293 X-linked intellectual disability, Cabezas type
- ORPHA:85277 X-linked intellectual disability, Cantagrel type
- ORPHA:163971 X-linked intellectual disability, Cilliers type
- ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type
- ORPHA:93952 X-linked intellectual disability, Hedera type
- ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type
- ORPHA:163937 X-linked intellectual disability, Najm type
- ORPHA:163956 X-linked intellectual disability, Nascimento 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
- OMIM:300709 X-LINKED intellectual disability, Shrimpton type
- ORPHA:85287 X-linked intellectual disability, Siderius 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:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome
- ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome
- ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome
- 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:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
- ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
- ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration 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:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome
- ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- ORPHA:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome
- ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome
- ORPHA:85332 X-linked intellectual disability-retinitis pigmentosa syndrome
- ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome
- ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome
- ORPHA:452 X-linked lissencephaly with abnormal genitalia
- ORPHA:1131 X-linked mandibulofacial dysostosis
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type
- ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type
- ORPHA:314978 X-linked non progressive cerebellar ataxia
- ORPHA:363654 X-linked parkinsonism-spasticity syndrome
- ORPHA:1175 X-linked progressive cerebellar ataxia
- ORPHA:54 X-linked recessive ocular albinism
- ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia
- ORPHA:100997 X-linked spastic paraplegia type 16
- ORPHA:171607 X-linked spastic paraplegia type 34
- ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome
- ORPHA:85297 X-linked spinocerebellar ataxia type 3
- ORPHA:85292 X-linked spinocerebellar ataxia type 4
- ORPHA:910 Xeroderma pigmentosum
- ORPHA:90342 Xeroderma pigmentosum variant
- OMIM:278700 Xeroderma pigmentosum, complementation group A
- OMIM:610651 Xeroderma pigmentosum, complementation group B
- OMIM:278720 Xeroderma pigmentosum, complementation group C
- OMIM:278730 Xeroderma pigmentosum, complementation group D
- OMIM:278740 Xeroderma pigmentosum, complementation group E
- OMIM:278760 Xeroderma pigmentosum, complementation group F
- OMIM:278780 Xeroderma pigmentosum, complementation group G
- OMIM:278750 Xeroderma pigmentosum, Variant type
- ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex
- OMIM:610965 XFE progeroid syndrome
- OMIM:615829 Xia-Gibbs syndrome
- ORPHA:3469 XK aprosencephaly syndrome
- OMIM:300705 Xp11.22 microduplication syndrome
- ORPHA:261476 Xp21 deletion syndrome
- ORPHA:284180 Xp22.13p22.2 duplication 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:97240 Zebra body myopathy
- OMIM:612916 Zechi-Ceide syndrome
- ORPHA:217017 Zechi-Ceide 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
- OMIM:618658 Zimmermann-Laband syndrome 3
- 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
- AAGAB
- AARS1
- AARS2
- AASS
- ABAT
- ABCA1
- ABCA12
- ABCA2
- ABCA4
- ABCA5
- ABCA7
- ABCB11
- ABCB4
- ABCB6
- ABCB7
- ABCC8
- ABCC9
- ABCD1
- ABCD4
- ABCG5
- ABCG8
- ABHD12
- ABHD16A
- ABHD5
- ABL1
- ACAD8
- ACAD9
- ACADM
- ACADS
- ACADSB
- ACADVL
- ACAN
- ACAT1
- ACAT2
- ACBD5
- ACD
- ACE
- ACER3
- ACO2
- ACOX1
- ACOX2
- ACP5
- ACSF3
- ACSL4
- ACTA1
- ACTA2
- ACTB
- ACTC1
- ACTG1
- ACTG2
- ACTL6B
- ACTN2
- ACTN4
- ACVR1
- ACVRL1
- ACY1
- ADA
- ADA2
- ADAM22
- ADAM9
- ADAMTS10
- ADAMTS13
- ADAMTS2
- ADAMTS3
- ADAMTSL1
- ADAMTSL2
- ADAMTSL4
- ADAR
- ADARB1
- ADAT3
- ADCY3
- ADCY5
- ADCY6
- ADD3
- ADGRG1
- ADGRL1
- ADGRV1
- ADH1B
- ADH1C
- ADH5
- ADK
- ADNP
- ADORA2A
- ADPRS
- ADRA2B
- ADRB1
- ADSL
- ADSS1
- AEBP1
- AFF3
- AFF4
- AFG3L2
- AGA
- AGBL5
- AGGF1
- AGK
- AGL
- AGO2
- AGPAT2
- AGRN
- AGT
- AGTPBP1
- AGTR1
- AGXT
- AHCY
- AHDC1
- AHI1
- AHR
- AHSG
- AIFM1
- AIMP1
- AIMP2
- AIP
- AIPL1
- AIRE
- AK9
- AKAP9
- AKT1
- AKT2
- AKT3
- ALAD
- ALB
- ALDH18A1
- ALDH1A2
- ALDH1A3
- ALDH3A2
- ALDH4A1
- ALDH5A1
- ALDH6A1
- ALDH7A1
- ALDOA
- ALDOB
- ALG1
- ALG11
- ALG12
- ALG13
- ALG14
- ALG2
- ALG3
- ALG5
- ALG6
- ALG8
- ALG9
- ALK
- ALKBH8
- ALMS1
- ALOX12B
- ALOX5AP
- ALOXE3
- ALPK1
- ALPK3
- ALPL
- ALS2
- ALX1
- ALX3
- ALX4
- AMACR
- AMER1
- AMMECR1
- AMN
- AMPD1
- AMPD2
- AMT
- ANAPC1
- ANAPC7
- ANG
- ANGPTL6
- ANK1
- ANK2
- ANK3
- ANKFY1
- ANKH
- ANKLE2
- ANKRD11
- ANKRD17
- ANLN
- ANO10
- ANO3
- ANO5
- ANOS1
- ANTXR1
- ANTXR2
- ANXA11
- AOPEP
- AP1B1
- AP1G1
- AP1S1
- AP1S2
- AP2M1
- AP2S1
- AP3B1
- AP3B2
- AP3D1
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- AP5Z1
- APC
- APC2
- APOA1
- APOA5
- APOB
- APOE
- APOL1
- APOL2
- APOL4
- APP
- APTX
- AQP2
- ARCN1
- ARF1
- ARFGEF1
- ARFGEF2
- ARG1
- ARHGAP24
- ARHGAP29
- ARHGAP31
- ARHGDIA
- ARHGEF10
- ARHGEF18
- ARHGEF2
- ARHGEF9
- ARID1A
- ARID1B
- ARID2
- ARL13B
- ARL2BP
- ARL3
- ARL6
- ARL6IP1
- ARL6IP6
- ARMC5
- ARMC9
- ARNT2
- ARPC1B
- ARPC4
- ARSA
- ARSB
- ARSG
- ARSI
- ARSL
- ARV1
- ARVCF
- ASAH1
- ASCC1
- ASCL1
- ASH1L
- ASL
- ASNS
- ASPA
- ASPM
- ASPRV1
- ASS1
- ASXL1
- ASXL2
- ASXL3
- ATAD1
- ATAD3A
- ATCAY
- ATF6
- ATG5
- ATG7
- ATIC
- ATL1
- ATL3
- ATM
- ATP10A
- ATP11A
- ATP13A2
- ATP13A3
- ATP1A1
- ATP1A2
- ATP1A3
- ATP2A1
- ATP2A2
- ATP2B1
- ATP2B3
- ATP5F1A
- ATP5F1D
- ATP5F1E
- ATP5MC3
- ATP5MK
- ATP6AP1
- ATP6AP2
- ATP6V0A1
- ATP6V0A2
- ATP6V1A
- ATP6V1B2
- ATP6V1E1
- ATP7A
- ATP7B
- ATP8A2
- ATP8B1
- ATPAF2
- ATR
- ATRIP
- ATRX
- AUH
- AUTS2
- AVP
- AVPR2
- AXL
Nom du gène
- B2M
- B3GALNT2
- B3GALT6
- B3GAT3
- B3GLCT
- B4GALNT1
- B4GALT1
- B4GALT7
- B4GAT1
- B9D1
- B9D2
- BAG3
- BANF1
- BAP1
- BAZ1B
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BCAP31
- BCAS3
- BCAT2
- BCHE
- BCKDHA
- BCKDHB
- BCKDK
- BCL10
- BCL11A
- BCL11B
- BCL2
- BCL6
- BCL7B
- BCOR
- BCORL1
- BCR
- BCS1L
- BDNF
- BEST1
- BGN
- BICC1
- BICD2
- BICRA
- BIN1
- BLM
- BLNK
- BLOC1S5
- BLOC1S6
- BLTP1
- BMP1
- BMP15
- BMP2
- BMP4
- BMP6
- BMPER
- BMPR1A
- BMPR1B
- BMS1
- BNC1
- BNC2
- BOLA3
- BPTF
- BRAF
- BRAT1
- BRCA1
- BRCA2
- BRCC3
- BRD4
- BRF1
- BRIP1
- BRPF1
- BRWD3
- BSCL2
- BSND
- BTD
- BTK
- BTNL2
- BUB1
- BUB1B
- BUB3
- BUD23
- BVES
Nom du gène
- C12orf4
- C12orf57
- C14orf39
- C18orf32
- C19orf12
- C1QTNF5
- C2CD3
- C2orf69
- C4A
- C4B
- C8A
- C8B
- CA2
- CA4
- CA5A
- CA8
- CABP4
- CACNA1B
- CACNA1C
- CACNA1D
- CACNA1E
- CACNA1F
- CACNA1G
- CACNA1H
- CACNA1I
- CACNA1S
- CACNA2D1
- CACNA2D2
- CACNA2D4
- CACNB4
- CACNG2
- CAD
- CADM3
- CALM1
- CALM2
- CALM3
- CALR
- CAMK2A
- CAMK2B
- CAMK2G
- CAMKMT
- CAMTA1
- CANT1
- CAPN1
- CAPN15
- CAPN3
- CARD9
- CARMIL2
- CARS1
- CARS2
- CASK
- CASP10
- CASQ1
- CASQ2
- CASR
- CASZ1
- CAT
- CAV1
- CAV3
- CAVIN1
- CBL
- CBLIF
- CBS
- CBX2
- CBY1
- CC2D1A
- CC2D2A
- CCBE1
- CCDC103
- CCDC115
- CCDC134
- CCDC141
- CCDC174
- CCDC22
- CCDC28B
- CCDC32
- CCDC34
- CCDC39
- CCDC40
- CCDC47
- CCDC65
- CCDC78
- CCDC8
- CCDC88A
- CCDC88C
- CCL2
- CCM2
- CCN2
- CCN6
- CCND1
- CCND2
- CCNF
- CCNK
- CCNO
- CCNQ
- CCR1
- CCR6
- CCT5
- CD109
- CD19
- CD27
- CD28
- CD2AP
- CD40LG
- CD46
- CD59
- CD79A
- CD79B
- CD96
- CDC40
- CDC42
- CDC42BPB
- CDC45
- CDC6
- CDC73
- CDCA7
- CDH1
- CDH11
- CDH15
- CDH2
- CDH23
- CDHR1
- CDK10
- CDK13
- CDK19
- CDK4
- CDK5
- CDK5RAP2
- CDK6
- CDK8
- CDKL5
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2A
- CDKN2B
- CDKN2C
- CDON
- CDT1
- CEACAM3
- CEACAM6
- CEBPE
- CELF2
- CENPE
- CENPF
- CENPJ
- CENPT
- CEP104
- CEP120
- CEP126
- CEP135
- CEP152
- CEP164
- CEP19
- CEP250
- CEP290
- CEP41
- CEP55
- CEP57
- CEP63
- CEP78
- CEP83
- CEP85L
- CERKL
- CERS1
- CERT1
- CFAP221
- CFAP298
- CFAP300
- CFAP410
- CFAP418
- CFAP43
- CFB
- CFC1
- CFH
- CFHR1
- CFHR3
- CFI
- CFL2
- CFTR
- CHAMP1
- CHAT
- CHCHD10
- CHCHD2
- CHD1
- CHD2
- CHD3
- CHD4
- CHD5
- CHD7
- CHD8
- CHEK2
- CHI3L1
- CHKA
- CHKB
- CHMP1A
- CHMP2B
- CHN1
- CHP1
- CHRM3
- CHRNA1
- CHRNA2
- CHRNA3
- CHRNA4
- CHRNA7
- CHRNB1
- CHRNB2
- CHRND
- CHRNE
- CHRNG
- CHST14
- CHST3
- CHST6
- CHSY1
- CIB2
- CIC
- CIITA
- CILK1
- CISD2
- CIT
- CITED2
- CIZ1
- CKAP2L
- CLCA4
- CLCC1
- CLCF1
- CLCN1
- CLCN2
- CLCN3
- CLCN4
- CLCN6
- CLCN7
- CLCNKA
- CLCNKB
- CLDN10
- CLDN11
- CLDN16
- CLDN9
- CLEC7A
- CLIC2
- CLIP2
- CLMP
- CLN3
- CLN5
- CLN6
- CLN8
- CLP1
- CLPB
- CLPP
- CLRN1
- CLTC
- CLTCL1
- CLTRN
- CNGA1
- CNGA3
- CNGB1
- CNGB3
- CNKSR2
- CNNM2
- CNNM4
- CNOT1
- CNOT2
- CNOT3
- CNP
- CNPY3
- CNTN1
- CNTN2
- CNTNAP1
- CNTNAP2
- COA3
- COA7
- COA8
- COASY
- COCH
- COG1
- COG2
- COG4
- COG5
- COG6
- COG7
- COG8
- COL10A1
- COL11A1
- COL12A1
- COL13A1
- COL14A1
- COL17A1
- COL18A1
- COL1A1
- COL1A2
- COL25A1
- COL27A1
- COL2A1
- COL3A1
- COL4A1
- COL4A2
- COL4A3
- COL4A5
- COL4A6
- COL5A1
- COL5A2
- COL6A1
- COL6A2
- COL6A3
- COL7A1
- COL8A2
- COL9A1
- COL9A2
- COL9A3
- COLEC10
- COLEC11
- COLGALT1
- COLQ
- COMP
- COMT
- COPB1
- COPB2
- COQ2
- COQ4
- COQ5
- COQ6
- COQ7
- COQ8A
- COQ8B
- COQ9
- CORIN
- CORO1A
- COX10
- COX14
- COX15
- COX16
- COX20
- COX4I1
- COX4I2
- COX5A
- COX6A1
- COX6B1
- COX7B
- COX8A
- CP
- CPA6
- CPE
- CPLANE1
- CPLX1
- CPOX
- CPS1
- CPSF3
- CPT1A
- CPT1C
- CPT2
- CR2
- CRADD
- CRAT
- CRB1
- CRB2
- CRBN
- CREBBP
- CRH
- CRIPT
- CRKL
- CRLF1
- CRPPA
- CRTAP
- CRX
- CRY1
- CRYAB
- CRYGC
- CSF1R
- CSGALNACT1
- CSNK1D
- CSNK2A1
- CSNK2B
- CSPP1
- CST3
- CST6
- CTBP1
- CTC1
- CTCF
- CTDP1
- CTH
- CTLA4
- CTNNA2
- CTNNB1
- CTNND2
- CTNS
- CTSA
- CTSC
- CTSD
- CTSF
- CTSH
- CTSK
- CTU2
- CUBN
- CUL3
- CUL4B
- CUL7
- CUX1
- CUX2
- CWC27
- CWF19L1
- CXCR4
- CYB561
- CYB5A
- CYB5R3
- CYBA
- CYBB
- CYBC1
- CYC1
- CYFIP2
- CYLD
- CYP11A1
- CYP11B1
- CYP11B2
- CYP17A1
- CYP24A1
- CYP26B1
- CYP26C1
- CYP27A1
- CYP27B1
- CYP2R1
- CYP2U1
- CYP3A4
- CYP4F22
- CYP7B1
Nom du gène
- D2HGDH
- DAAM2
- DACT1
- DAG1
- DALRD3
- DAO
- DAOA
- DARS1
- DARS2
- DAXX
- DBH
- DBR1
- DBT
- DCAF17
- DCAF8
- DCC
- DCDC2
- DCHS1
- DCLRE1B
- DCN
- DCPS
- DCT
- DCTN1
- DCTN4
- DCX
- DDB1
- DDB2
- DDC
- DDHD1
- DDHD2
- DDOST
- DDR2
- DDX11
- DDX3X
- DDX59
- DDX6
- DEAF1
- DEGS1
- DENND5A
- DEPDC5
- DES
- DGCR2
- DGCR6
- DGCR8
- DGUOK
- DHCR24
- DHCR7
- DHDDS
- DHFR
- DHH
- DHPS
- DHTKD1
- DHX16
- DHX30
- DHX37
- DHX38
- DIAPH1
- DIAPH2
- DIAPH3
- DICER1
- DIS3L2
- DISC1
- DISC2
- DISP1
- DKC1
- DKK1
- DLAT
- DLD
- DLG1
- DLG3
- DLG4
- DLK1
- DLL1
- DLL3
- DLL4
- DLST
- DLX4
- DLX5
- DMD
- DMP1
- DMRT3
- DMXL2
- DNA2
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DNAJB11
- DNAJB13
- DNAJB2
- DNAJB6
- DNAJC12
- DNAJC13
- DNAJC19
- DNAJC21
- DNAJC3
- DNAJC30
- DNAJC5
- DNAJC6
- DNAL1
- DNAL4
- DNASE1
- DNASE1L3
- DNASE2
- DNM1
- DNM1L
- DNM2
- DNMT1
- DNMT3A
- DNMT3B
- DOCK3
- DOCK6
- DOCK7
- DOCK8
- DOHH
- DOK7
- DOLK
- DONSON
- DPAGT1
- DPF2
- DPH1
- DPH2
- DPH5
- DPM1
- DPM2
- DPM3
- DPP6
- DPYD
- DPYS
- DPYSL5
- DRAM2
- DRC1
- DRD2
- DRD3
- DRD4
- DRD5
- DSE
- DSG4
- DST
- DSTYK
- DTYMK
- DUOX2
- DUOXA2
- DUSP6
- DVL1
- DVL3
- DYM
- DYNC1H1
- DYNC1I2
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYRK1A
- DYRK1B
- DYSF
- DZIP1L
Nom du gène
- EARS2
- EBF3
- EBP
- ECE1
- ECHS1
- ECM1
- EDA
- EDA2R
- EDC3
- EDEM3
- EDN1
- EDN3
- EDNRA
- EDNRB
- EED
- EEF1A2
- EEF2
- EFEMP1
- EFEMP2
- EFHC1
- EFL1
- EFNB1
- EFTUD2
- EGF
- EGR2
- EHMT1
- EIF2AK1
- EIF2AK2
- EIF2AK3
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EIF2S3
- EIF3F
- EIF4G1
- EIF4H
- EIF5A
- ELAC2
- ELANE
- ELMO2
- ELN
- ELOVL1
- ELOVL4
- ELOVL5
- ELP1
- ELP2
- EMC1
- EMC10
- EMD
- EMG1
- EMILIN1
- EML1
- EMP2
- EMX2
- EN1
- ENG
- ENPP1
- ENTPD1
- EOGT
- EOMES
- EP300
- EPAS1
- EPB41L1
- EPB42
- EPCAM
- EPG5
- EPHA4
- EPHB2
- EPHB4
- EPM2A
- EPOR
- EPRS1
- ERAP1
- ERBB2
- ERBB3
- ERBB4
- ERCC1
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC6L2
- ERCC8
- ERF
- ERGIC1
- ERLIN1
- ERLIN2
- ERMARD
- ESCO2
- ESPN
- ESR1
- ESR2
- ESS2
- ETFA
- ETFB
- ETFDH
- ETHE1
- EVC
- EVC2
- EWSR1
- EXOC2
- EXOC6B
- EXOC7
- EXOC8
- EXOSC1
- EXOSC2
- EXOSC3
- EXOSC5
- EXOSC8
- EXOSC9
- EXT1
- EXT2
- EXTL3
- EYA1
- EYS
- EZH2
Nom du gène
- F10
- F13A1
- F13B
- F2
- F5
- F7
- FA2H
- FADD
- FAH
- FAM111A
- FAM149B1
- FAM161A
- FAM20C
- FAM50A
- FAN1
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FAR1
- FARS2
- FARSA
- FARSB
- FAS
- FASLG
- FASTKD2
- FAT2
- FAT4
- FBLN1
- FBLN5
- FBN1
- FBN2
- FBP1
- FBP2
- FBXL3
- FBXL4
- FBXO11
- FBXO28
- FBXO31
- FBXO38
- FBXO7
- FBXW11
- FBXW7
- FCGR2A
- FCGR2B
- FCGR2C
- FCGR3B
- FCSK
- FDFT1
- FDX2
- FDXR
- FERMT1
- FEZF1
- FGA
- FGB
- FGD1
- FGD4
- FGF10
- FGF12
- FGF13
- FGF14
- FGF17
- FGF3
- FGF8
- FGFR1
- FGFR2
- FGFR3
- FGFRL1
- FGG
- FH
- FHL1
- FHOD3
- FIBP
- FIG4
- FIGLA
- FIP1L1
- FITM2
- FKBP10
- FKBP14
- FKBP5
- FKBP6
- FKRP
- FKTN
- FLAD1
- FLCN
- FLG
- FLI1
- FLII
- FLNA
- FLNB
- FLNC
- FLRT1
- FLRT3
- FLT1
- FLT4
- FLVCR1
- FLVCR2
- FMN2
- FMO3
- FN1
- FNIP1
- FOCAD
- FOLR1
- FOS
- FOXA2
- FOXC1
- FOXC2
- FOXE1
- FOXE3
- FOXF1
- FOXG1
- FOXH1
- FOXI1
- FOXJ1
- FOXL2
- FOXP1
- FOXP2
- FOXP3
- FOXRED1
- FRA16E
- FRAS1
- FREM1
- FREM2
- FRG1
- FRMD4A
- FRMD5
- FRMPD4
- FRRS1L
- FSCN2
- FSHB
- FSHR
- FTCD
- FTL
- FTO
- FTSJ1
- FUCA1
- FUS
- FUT8
- FUZ
- FXR1
- FXYD2
- FZD2
- FZD4
- FZR1
Nom du gène
- G6PC3
- GAA
- GABBR2
- GABRA1
- GABRA2
- GABRA3
- GABRA5
- GABRB1
- GABRB2
- GABRB3
- GABRD
- GABRG2
- GAD1
- GAL
- GALC
- GALE
- GALK1
- GALM
- GALNS
- GALNT2
- GALT
- GAMT
- GAN
- GANAB
- GAPVD1
- GARS1
- GAS1
- GAS2L2
- GAS8
- GATA1
- GATA2
- GATA3
- GATA4
- GATA6
- GATAD2B
- GATM
- GBA1
- GBA2
- GBE1
- GBF1
- GCDH
- GCGR
- GCH1
- GCK
- GCLC
- GCM2
- GCNA
- GCSH
- GDAP1
- GDAP2
- GDF1
- GDF2
- GDF3
- GDF5
- GDF6
- GDF9
- GDI1
- GDNF
- GEMIN4
- GEMIN5
- GFAP
- GFER
- GFM1
- GFM2
- GFPT1
- GGCX
- GGPS1
- GGT1
- GH1
- GHR
- GHRHR
- GHSR
- GIGYF2
- GINS1
- GJA1
- GJA5
- GJA8
- GJB1
- GJB2
- GJB3
- GJB4
- GJB6
- GJC2
- GK
- GLA
- GLB1
- GLDC
- GLE1
- GLI1
- GLI2
- GLI3
- GLIS3
- GLRA1
- GLRA2
- GLRB
- GLRX5
- GLS
- GLT8D1
- GLUD1
- GLUD2
- GLUL
- GLYCTK
- GM2A
- GMNN
- GMPPA
- GMPPB
- GNA11
- GNA14
- GNAI1
- GNAI3
- GNAL
- GNAO1
- GNAQ
- GNAS
- GNAT2
- GNB1
- GNB2
- GNB3
- GNB4
- GNB5
- GNE
- GNPAT
- GNPTAB
- GNPTG
- GNRH1
- GNRHR
- GNS
- GON7
- GORAB
- GOSR2
- GOT2
- GP1BA
- GP1BB
- GP9
- GPAA1
- GPC3
- GPC4
- GPC6
- GPHN
- GPI
- GPKOW
- GPR101
- GPR143
- GPR161
- GPR35
- GPR88
- GPSM2
- GPT2
- GPX4
- GRB10
- GRHL2
- GRHL3
- GRIA1
- GRIA2
- GRIA3
- GRIA4
- GRID2
- GRIK2
- GRIN1
- GRIN2A
- GRIN2B
- GRIN2D
- GRIP1
- GRM1
- GRM7
- GRN
- GSC
- GSN
- GSS
- GSTM3
- GSX2
- GTF2E2
- GTF2H5
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GTPBP2
- GTPBP3
- GUCA1A
- GUCA1B
- GUCY1A1
- GUCY2D
- GUF1
- GUSB
- GYG1
- GYS1
- GYS2
- GZF1
Nom du gène
- H1-4
- H19
- H3-3A
- H3-3B
- H4C11
- H4C3
- H4C5
- H4C9
- HAAO
- HABP2
- HACD1
- HACE1
- HADH
- HADHA
- HADHB
- HAL
- HAMP
- HARS1
- HAX1
- HBA1
- HBA2
- HBB
- HCCS
- HCFC1
- HCN1
- HCN2
- HCN4
- HCRT
- HDAC4
- HDAC6
- HDAC8
- HDC
- HEATR3
- HECW2
- HELLPAR
- HELLS
- HEPACAM
- HEPHL1
- HERC1
- HERC2
- HES7
- HESX1
- HEXA
- HEXB
- HEY2
- HFE
- HFM1
- HGSNAT
- HHAT
- HIBCH
- HIC1
- HID1
- HIKESHI
- HINT1
- HIRA
- HIVEP2
- HJV
- HK1
- HLA-A
- HLA-B
- HLA-DPA1
- HLA-DPB1
- HLA-DQA1
- HLA-DQB1
- HLA-DRB1
- HLCS
- HMBS
- HMGA2
- HMGB3
- HMGCL
- HMGCS2
- HMOX1
- HMX1
- HNF1A
- HNF1B
- HNF4A
- HNMT
- HNRNPA1
- HNRNPA2B1
- HNRNPDL
- HNRNPH1
- HNRNPH2
- HNRNPK
- HNRNPR
- HNRNPU
- HOXA1
- HOXA2
- HOXB1
- HOXC13
- HOXD13
- HPCA
- HPD
- HPDL
- HPGD
- HPRT1
- HPS1
- HPS6
- HPSE2
- HRAS
- HS2ST1
- HS6ST1
- HS6ST2
- HSD11B2
- HSD17B10
- HSD17B4
- HSD3B2
- HSD3B7
- HSPA9
- HSPB1
- HSPB3
- HSPB8
- HSPD1
- HSPG2
- HTR1A
- HTR2A
- HTRA1
- HTRA2
- HUWE1
- HYCC1
- HYLS1
- HYMAI
- HYOU1
Nom du gène
- IARS1
- IARS2
- IBA57
- ICOS
- IDH1
- IDH2
- IDH3A
- IDH3B
- IDUA
- IER3IP1
- IFIH1
- IFNG
- IFNGR1
- IFRD1
- IFT122
- IFT140
- IFT172
- IFT27
- IFT43
- IFT52
- IFT74
- IFT80
- IFT88
- IGBP1
- IGF1
- IGF1R
- IGF2
- IGH
- IGHG2
- IGHM
- IGHMBP2
- IGKC
- IGLL1
- IGSF1
- IHH
- IKBKG
- IKZF1
- IL10
- IL11RA
- IL12A
- IL12A-AS1
- IL12B
- IL12RB1
- IL17F
- IL17RA
- IL17RC
- IL17RD
- IL18BP
- IL1RAPL1
- IL1RN
- IL23R
- IL2RG
- IL37
- IL6
- IL6ST
- IL7
- IMPA1
- IMPDH1
- IMPDH2
- IMPG1
- IMPG2
- INF2
- INPP5E
- INPP5K
- INPPL1
- INS
- INSR
- INTS1
- INTS8
- INTU
- INVS
- IPO8
- IPW
- IQCB1
- IQSEC1
- IQSEC2
- IRAK1
- IREB2
- IRF2BP2
- IRF2BPL
- IRF3
- IRF4
- IRF5
- IRF6
- IRF8
- IRS4
- IRX5
- ISCA1
- ISCA2
- ISCU
- ISG15
- ITCH
- ITGA2
- ITGA2B
- ITGA3
- ITGA7
- ITGB3
- ITGB4
- ITGB6
- ITM2B
- ITPA
- ITPR1
- ITPR3
- IVD
- IYD
Nom du gène
- KANK1
- KANSL1
- KARS1
- KAT5
- KAT6A
- KAT6B
- KAT8
- KATNB1
- KATNIP
- KBTBD13
- KCNA1
- KCNA2
- KCNA4
- KCNAB2
- KCNB1
- KCNC1
- KCNC2
- KCNC3
- KCND3
- KCNE1
- KCNE2
- KCNE3
- KCNE5
- KCNH1
- KCNH2
- KCNJ1
- KCNJ10
- KCNJ11
- KCNJ13
- KCNJ16
- KCNJ18
- KCNJ2
- KCNJ5
- KCNJ6
- KCNJ8
- KCNK18
- KCNK4
- KCNK9
- KCNMA1
- KCNN2
- KCNN3
- KCNN4
- KCNQ1
- KCNQ1OT1
- KCNQ2
- KCNQ3
- KCNQ5
- KCNT1
- KCNT2
- KCNV2
- KCTD17
- KCTD7
- KDELR2
- KDM1A
- KDM3B
- KDM4B
- KDM5B
- KDM5C
- KDM6A
- KDM6B
- KDSR
- KEAP1
- KIAA0319L
- KIAA0586
- KIAA0753
- KIAA1549
- KIDINS220
- KIF11
- KIF14
- KIF15
- KIF1A
- KIF1B
- KIF1C
- KIF20A
- KIF22
- KIF23
- KIF2A
- KIF4A
- KIF5A
- KIF5C
- KIF7
- KIFBP
- KISS1
- KISS1R
- KIT
- KITLG
- KIZ
- KL
- KLC2
- KLF13
- KLHL10
- KLHL15
- KLHL40
- KLHL41
- KLHL7
- KLHL9
- KLLN
- KLRC4
- KMT2A
- KMT2B
- KMT2C
- KMT2D
- KMT2E
- KMT5B
- KNL1
- KNSTRN
- KPNA3
- KPTN
- KRAS
- KRIT1
- KRT1
- KRT12
- KRT14
- KRT16
- KRT18
- KRT3
- KRT5
- KRT81
- KRT83
- KRT85
- KRT86
- KRT9
- KY
- KYNU
Nom du gène
- L1CAM
- L2HGDH
- LAGE3
- LAMA1
- LAMA2
- LAMA3
- LAMB1
- LAMB2
- LAMB3
- LAMC2
- LAMC3
- LAMP2
- LARGE1
- LARP7
- LARS1
- LARS2
- LAS1L
- LBR
- LCA5
- LDB3
- LDHA
- LDHD
- LDLR
- LDLRAP1
- LEMD2
- LEMD3
- LEP
- LEPR
- LETM1
- LFNG
- LGI1
- LGI3
- LGI4
- LHB
- LHCGR
- LHX1
- LHX3
- LHX4
- LIAS
- LIFR
- LIG1
- LIG3
- LIG4
- LIMK1
- LIMS2
- LIN28B
- LINGO1
- LINS1
- LIPA
- LIPN
- LIPT1
- LIPT2
- LITAF
- LMAN1
- LMAN2L
- LMBR1
- LMBRD1
- LMBRD2
- LMNA
- LMNB1
- LMNB2
- LMO1
- LMOD2
- LMOD3
- LMX1B
- LNPK
- LONP1
- LORICRIN
- LOX
- LPIN1
- LPIN2
- LRAT
- LRIG2
- LRMDA
- LRP1
- LRP12
- LRP2
- LRP4
- LRP5
- LRPPRC
- LRRC32
- LRRC56
- LRRC8A
- LRRK1
- LRRK2
- LRSAM1
- LSM11
- LSS
- LTBP1
- LTBP2
- LTBP3
- LTBP4
- LTC4S
- LUZP1
- LYRM4
- LYRM7
- LYSET
- LYST
- LYZ
- LZTFL1
- LZTR1
Nom du gène
- MAB21L1
- MAB21L2
- MACF1
- MAD2L2
- MADD
- MAF
- MAFA
- MAFB
- MAG
- MAGEL2
- MAGI2
- MAGT1
- MAK
- MAMLD1
- MAN1B1
- MAN2B1
- MAN2C1
- MANBA
- MAOA
- MAP1B
- MAP2K1
- MAP2K2
- MAP3K1
- MAP3K20
- MAP3K7
- MAPK1
- MAPK10
- MAPK8IP3
- MAPKAPK5
- MAPRE2
- MAPT
- MARS1
- MARS2
- MASP1
- MAST1
- MAT1A
- MAT2A
- MATN3
- MATR3
- MAX
- MBD4
- MBD5
- MBOAT7
- MBTPS1
- MBTPS2
- MC1R
- MC2R
- MC4R
- MCCC1
- MCCC2
- MCEE
- MCFD2
- MCIDAS
- MCM3AP
- MCM4
- MCM7
- MCM8
- MCM9
- MCOLN1
- MCPH1
- MCTP2
- MDH1
- MDH2
- MDM2
- MECOM
- MECP2
- MECR
- MED12
- MED12L
- MED13
- MED13L
- MED17
- MED23
- MED25
- MED27
- MEF2C
- MEFV
- MEG3
- MEGF10
- MEGF8
- MEIOB
- MEIS2
- MEN1
- MEOX1
- MERTK
- MESD
- MESP2
- METTL23
- METTL27
- METTL5
- MFAP5
- MFF
- MFN2
- MFRP
- MFSD2A
- MFSD8
- MGAT2
- MGME1
- MGMT
- MGP
- MIA3
- MICAL1
- MICOS13
- MICU1
- MID1
- MID2
- MIEF2
- MIF
- MINPP1
- MIPEP
- MIR140
- MIR17HG
- MITF
- MKKS
- MKRN3
- MKS1
- MLC1
- MLH1
- MLH3
- MLIP
- MLPH
- MLX
- MLXIPL
- MLYCD
- MMAA
- MMAB
- MMACHC
- MMADHC
- MME
- MMEL1
- MMP1
- MMP13
- MMP14
- MMP2
- MMP23B
- MMUT
- MN1
- MNX1
- MOCS1
- MOCS2
- MOG
- MOGS
- MORC2
- MPC1
- MPDU1
- MPDZ
- MPI
- MPL
- MPLKIP
- MPO
- MPV17
- MPZ
- MRAP
- MRAS
- MRE11
- MRM2
- MRPL12
- MRPL3
- MRPS14
- MRPS16
- MRPS2
- MRPS22
- MRPS25
- MRPS28
- MRPS34
- MRPS7
- MRTFA
- MSH2
- MSH3
- MSH4
- MSH5
- MSH6
- MSL3
- MSMO1
- MST1
- MSTN
- MSTO1
- MSX1
- MSX2
- MT-ATP6
- MT-ATP8
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND4L
- MT-ND5
- MT-ND6
- MT-RNR1
- MT-TC
- MT-TE
- MT-TF
- MT-TH
- MT-TI
- MT-TK
- MT-TL1
- MT-TL2
- MT-TN
- MT-TP
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TT
- MT-TV
- MT-TW
- MTFMT
- MTHFD1
- MTHFR
- MTHFS
- MTM1
- MTMR14
- MTMR2
- MTO1
- MTOR
- MTPAP
- MTR
- MTRFR
- MTRR
- MTSS2
- MTTP
- MUC1
- MUSK
- MVK
- MYBPC1
- MYBPC3
- MYCN
- MYD88
- MYF5
- MYF6
- MYH11
- MYH14
- MYH2
- MYH3
- MYH6
- MYH7
- MYH8
- MYL1
- MYL2
- MYL9
- MYLK
- MYMK
- MYMX
- MYO18B
- MYO1E
- MYO1H
- MYO5A
- MYO5B
- MYO7A
- MYO9A
- MYOD1
- MYORG
- MYOT
- MYPN
- MYRF
- MYSM1
- MYT1L
Nom du gène
- NAA10
- NAA15
- NAA20
- NAB2
- NABP1
- NACC1
- NADK2
- NAGA
- NAGLU
- NAGS
- NALCN
- NANOS1
- NANS
- NAPB
- NARS1
- NARS2
- NAT8L
- NAXD
- NAXE
- NBAS
- NBEA
- NBN
- NCAPD2
- NCAPD3
- NCAPG2
- NCAPH
- NCDN
- NCF2
- NCF4
- NCKAP1L
- NDE1
- NDN
- NDNF
- NDP
- NDRG1
- NDST1
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- NDUFA6
- NDUFA8
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB7
- NDUFB8
- NDUFB9
- NDUFC2
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NECAP1
- NECTIN1
- NEDD4L
- NEFH
- NEFL
- NEK1
- NEK10
- NEK2
- NEK9
- NELFA
- NEMF
- NEPRO
- NEU1
- NEUROD2
- NEXMIF
- NF2
- NFASC
- NFE2L2
- NFIA
- NFIB
- NFIX
- NFKB2
- NFS1
- NFU1
- NGF
- NGLY1
- NHEJ1
- NHLH2
- NHLRC1
- NHLRC2
- NHP2
- NHS
- NIN
- NIPA1
- NIPA2
- NIPAL4
- NIPBL
- NKAP
- NKX2-1
- NKX2-5
- NKX2-6
- NKX3-2
- NKX6-2
- NLGN1
- NLGN3
- NLGN4X
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NME8
- NMNAT1
- NNT
- NOD2
- NODAL
- NOG
- NOL3
- NONO
- NOP10
- NOS1
- NOS1AP
- NOS3
- NOTCH1
- NOTCH3
- NOVA2
- NPAP1
- NPC1
- NPC2
- NPHP1
- NPHP3
- NPHP4
- NPHS1
- NPHS2
- NPM1
- NPPA
- NPR2
- NPR3
- NPRL2
- NPRL3
- NR0B1
- NR1H4
- NR2E3
- NR2F1
- NR3C1
- NR4A2
- NR5A1
- NRAS
- NRCAM
- NRL
- NRROS
- NRTN
- NRXN1
- NSD1
- NSD2
- NSDHL
- NSF
- NSMCE2
- NSMCE3
- NSMF
- NSRP1
- NSUN2
- NSUN3
- NT5C2
- NTHL1
- NTN1
- NTNG1
- NTNG2
- NTRK1
- NTRK2
- NUAK2
- NUBPL
- NUDT2
- NUMA1
- NUP107
- NUP133
- NUP160
- NUP188
- NUP205
- NUP214
- NUP37
- NUP62
- NUP85
- NUP88
- NUP93
- NUS1
- NUTM1
- NUTM2B-AS1
- NXN
Nom du gène
Nom du gène
- P2RY11
- P3H1
- P4HA2
- P4HB
- P4HTM
- PACS1
- PACS2
- PAFAH1B1
- PAH
- PAK1
- PAK2
- PAK3
- PALB2
- PAM16
- PANK2
- PAPPA2
- PARK7
- PARN
- PARS2
- PAX1
- PAX2
- PAX3
- PAX6
- PAX7
- PAX8
- PBX1
- PC
- PCARE
- PCBD1
- PCCA
- PCCB
- PCDH12
- PCDH15
- PCDH19
- PCDHGC4
- PCGF2
- PCK1
- PCLO
- PCNA
- PCNT
- PCSK1
- PCSK9
- PCYT1A
- PCYT2
- PDCD1
- PDCD10
- PDCD6IP
- PDE10A
- PDE11A
- PDE2A
- PDE4D
- PDE6A
- PDE6B
- PDE6C
- PDE6D
- PDE6G
- PDE6H
- PDE8B
- PDGFB
- PDGFRA
- PDGFRB
- PDHA1
- PDHB
- PDHX
- PDK3
- PDP1
- PDPN
- PDSS1
- PDSS2
- PDX1
- PDXK
- PDYN
- PDZD7
- PDZD8
- PEPD
- PER2
- PER3
- PERCC1
- PERP
- PET100
- PET117
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PFN1
- PGAP1
- PGAP2
- PGAP3
- PGK1
- PGM1
- PGM3
- PHACTR1
- PHC1
- PHEX
- PHF21A
- PHF6
- PHF8
- PHGDH
- PHIP
- PHKA2
- PHKB
- PHKG2
- PHYH
- PI4KA
- PIBF1
- PIDD1
- PIEZO1
- PIEZO2
- PIGA
- PIGB
- PIGC
- PIGF
- PIGG
- PIGH
- PIGK
- PIGL
- PIGM
- PIGN
- PIGO
- PIGP
- PIGQ
- PIGS
- PIGT
- PIGU
- PIGV
- PIGW
- PIGY
- PIK3C2A
- PIK3CA
- PIK3CD
- PIK3R1
- PIK3R2
- PIK3R5
- PIKFYVE
- PINK1
- PISD
- PITPNM3
- PITRM1
- PITX1
- PITX2
- PITX3
- PKD1
- PKD2
- PKDCC
- PKHD1
- PKP1
- PLA2G6
- PLAA
- PLAG1
- PLAGL1
- PLAU
- PLCB1
- PLCB3
- PLCB4
- PLCD1
- PLCE1
- PLCH1
- PLD3
- PLEC
- PLEKHG2
- PLEKHG4
- PLEKHG5
- PLEKHM1
- PLG
- PLIN1
- PLK4
- PLOD1
- PLOD3
- PLP1
- PLPBP
- PLXNA1
- PLXND1
- PML
- PMM2
- PMP2
- PMP22
- PMPCA
- PMPCB
- PMS1
- PMS2
- PNKD
- PNKP
- PNLDC1
- PNP
- PNPLA2
- PNPLA6
- PNPLA8
- PNPO
- PNPT1
- POC1A
- POC1B
- PODXL
- POGZ
- POLA1
- POLD1
- POLE
- POLG
- POLG2
- POLH
- POLR1A
- POLR1B
- POLR1C
- POLR1D
- POLR2A
- POLR3A
- POLR3B
- POLR3F
- POLR3GL
- POLR3H
- POLR3K
- POLRMT
- POMC
- POMGNT1
- POMGNT2
- POMK
- POMP
- POMT1
- POMT2
- PON1
- PON2
- PON3
- POPDC3
- POR
- PORCN
- POT1
- POU1F1
- POU2AF1
- POU3F3
- POU3F4
- POU4F1
- PPA2
- PPARG
- PPARGC1A
- PPFIBP1
- PPIL1
- PPM1B
- PPM1D
- PPOX
- PPP1CB
- PPP1R12A
- PPP1R15B
- PPP1R21
- PPP2CA
- PPP2R1A
- PPP2R3C
- PPP2R5D
- PPP3CA
- PPT1
- PQBP1
- PRCD
- PRDM12
- PRDM13
- PRDM16
- PRDM5
- PRDM8
- PRDX1
- PRDX3
- PREPL
- PRF1
- PRICKLE1
- PRIM1
- PRKACA
- PRKACB
- PRKAG2
- PRKAR1A
- PRKAR1B
- PRKCD
- PRKCG
- PRKCH
- PRKCSH
- PRKCZ
- PRKD1
- PRKDC
- PRKG1
- PRKN
- PRKRA
- PRLR
- PRMT7
- PRNP
- PROC
- PRODH
- PROK2
- PROKR2
- PROM1
- PROP1
- PRORP
- PROS1
- PRPF3
- PRPF31
- PRPF4
- PRPF6
- PRPF8
- PRPH
- PRPH2
- PRPS1
- PRR12
- PRRT2
- PRRX1
- PRSS12
- PRTN3
- PRUNE1
- PRX
- PSAP
- PSAT1
- PSEN1
- PSEN2
- PSMB1
- PSMB8
- PSMC1
- PSMC3
- PSMC3IP
- PSMD12
- PSMG2
- PSPH
- PTCD3
- PTCH1
- PTCH2
- PTCHD1
- PTDSS1
- PTEN
- PTF1A
- PTH
- PTH1R
- PTPN11
- PTPN22
- PTPN23
- PTPRO
- PTPRQ
- PTRH2
- PTS
- PUF60
- PUM1
- PURA
- PUS1
- PUS3
- PUS7
- PWAR1
- PWRN1
- PYCR1
- PYCR2
- PYGL
- PYGM
- PYROXD1
Nom du gène
- RAB11B
- RAB18
- RAB23
- RAB27A
- RAB28
- RAB39B
- RAB3GAP1
- RAB3GAP2
- RAB5IF
- RAB7A
- RAC1
- RAC3
- RACGAP1
- RAD21
- RAD50
- RAD51
- RAD51C
- RAF1
- RAG1
- RAG2
- RAI1
- RALA
- RALGAPA1
- RANBP2
- RAPGEF2
- RAPSN
- RARA
- RARB
- RARS1
- RARS2
- RASA1
- RASA2
- RASGRP1
- RAX2
- RB1
- RBBP8
- RBCK1
- RBL2
- RBM10
- RBM12
- RBM28
- RBMX
- RBP3
- RBPJ
- RCBTB1
- RD3
- RDH11
- RDH12
- RDH5
- RECQL4
- REEP1
- REEP2
- REEP6
- RELA
- RELN
- REN
- REPS1
- RERE
- RET
- RETREG1
- REV3L
- RFC2
- RFT1
- RFWD3
- RFX5
- RFXANK
- RFXAP
- RGR
- RGS9
- RGS9BP
- RHBDF2
- RHD
- RHO
- RHOA
- RHOBTB2
- RIC1
- RILPL1
- RIMS1
- RIMS2
- RIN2
- RINT1
- RIPK4
- RIPOR2
- RIPPLY2
- RIT1
- RLBP1
- RLIM
- RMND1
- RMRP
- RNASEH1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RNF113A
- RNF125
- RNF13
- RNF135
- RNF168
- RNF170
- RNF2
- RNF213
- RNF216
- RNF220
- RNF43
- RNPC3
- RNU12
- RNU4ATAC
- RNU7-1
- ROBO1
- ROBO3
- ROGDI
- ROM1
- ROR1
- ROR2
- RORA
- RORB
- RP1
- RP1L1
- RP2
- RP9
- RPE65
- RPGR
- RPGRIP1
- RPGRIP1L
- RPIA
- RPL10
- RPL11
- 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
- RRP7A
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- RSPO2
- RSPRY1
- RSRC1
- RTEL1
- RTL1
- RTN2
- RTN4IP1
- RTN4R
- RTTN
- RUBCN
- RUNX1
- RUNX2
- RUSC2
- RXYLT1
- RYR1
- RYR2
Nom du gène
- SACS
- SAG
- SALL1
- SALL4
- SAMD9
- SAMD9L
- SAMHD1
- SAR1B
- SARDH
- SARS1
- SASS6
- SATB1
- SATB2
- SBDS
- SBF1
- SBF2
- SC5D
- SCAPER
- SCARB2
- SCARF2
- SCN10A
- SCN11A
- SCN1A
- SCN1B
- SCN2A
- SCN3A
- SCN4A
- SCN4B
- SCN5A
- SCN8A
- SCN9A
- SCNM1
- SCO1
- SCO2
- SCP2
- SCUBE3
- SCYL1
- SCYL2
- SDCCAG8
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHC
- SDHD
- SDR9C7
- SEC23A
- SEC23B
- SEC24C
- SEC24D
- SEC31A
- SEC61A1
- SECISBP2
- SELENOI
- SELENON
- SEMA3A
- SEMA3C
- SEMA3D
- SEMA3E
- SEMA4A
- SEMA4D
- SEMA5A
- SEMA6B
- SEPSECS
- SEPTIN9
- SERAC1
- SERPINA1
- SERPINE1
- SERPINF2
- SERPING1
- SERPINI1
- SET
- SETBP1
- SETD1A
- SETD1B
- SETD2
- SETD5
- SETX
- SF3B2
- SF3B4
- SFTPC
- SFXN4
- SGCA
- SGCB
- SGCD
- SGCE
- SGCG
- SGMS2
- SGPL1
- SGSH
- SH2B1
- SH2B3
- SH2D1A
- SH3BP2
- SH3KBP1
- SH3PXD2B
- SH3TC2
- SHANK3
- SHH
- SHMT2
- SHOC1
- SHOC2
- SHPK
- SHQ1
- SHROOM4
- SIAH1
- SIGMAR1
- SIK1
- SIK3
- SIL1
- SIM1
- SIN3A
- SIN3B
- SIX1
- SIX2
- SIX3
- SIX5
- SIX6
- SKI
- SKIC2
- SKIC3
- SLC10A7
- SLC11A1
- SLC12A1
- SLC12A2
- SLC12A3
- SLC12A5
- SLC12A6
- SLC13A3
- SLC13A5
- SLC16A1
- SLC16A2
- SLC17A5
- SLC18A2
- SLC18A3
- SLC19A2
- SLC19A3
- SLC1A1
- SLC1A2
- SLC1A3
- SLC1A4
- SLC20A2
- SLC22A5
- SLC24A5
- SLC25A1
- SLC25A10
- SLC25A11
- SLC25A12
- SLC25A13
- SLC25A15
- SLC25A19
- SLC25A20
- SLC25A21
- SLC25A22
- SLC25A24
- SLC25A26
- SLC25A4
- SLC25A42
- SLC25A46
- SLC26A2
- SLC26A4
- SLC26A9
- SLC29A3
- SLC2A1
- SLC2A10
- SLC2A2
- SLC2A3
- SLC30A10
- SLC30A9
- SLC33A1
- SLC34A1
- SLC34A2
- SLC34A3
- SLC35A1
- SLC35A2
- SLC35A3
- SLC35C1
- SLC36A2
- SLC37A4
- SLC38A3
- SLC39A13
- SLC39A14
- SLC39A4
- SLC39A8
- SLC3A1
- SLC41A1
- SLC44A1
- SLC45A1
- SLC45A2
- SLC46A1
- SLC4A1
- SLC4A4
- SLC52A1
- SLC52A2
- SLC52A3
- SLC5A2
- SLC5A5
- SLC5A6
- SLC5A7
- SLC6A1
- SLC6A14
- SLC6A17
- SLC6A19
- SLC6A2
- SLC6A20
- SLC6A3
- SLC6A4
- SLC6A5
- SLC6A8
- SLC6A9
- SLC7A14
- SLC7A6OS
- SLC7A7
- SLC9A1
- SLC9A3
- SLC9A6
- SLC9A7
- SLCO2A1
- SLITRK1
- SLITRK6
- SLX4
- SMAD2
- SMAD3
- SMAD4
- SMAD6
- SMARCA2
- SMARCA4
- SMARCAL1
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCD2
- SMARCE1
- SMC1A
- SMC3
- SMCHD1
- SMG8
- SMG9
- SMO
- SMOC1
- SMPD1
- SMPD4
- SMS
- SNAI2
- SNAP25
- SNAP29
- SNCA
- SNCAIP
- SNCB
- SNIP1
- SNORA31
- SNORD115-1
- SNORD116-1
- SNORD118
- SNRNP200
- SNRPB
- SNRPN
- SNTA1
- SNX10
- SNX14
- SOBP
- SOD1
- SOHLH1
- SON
- SORD
- SORL1
- SOS1
- SOS2
- SOST
- SOX10
- SOX11
- SOX18
- SOX2
- SOX3
- SOX4
- SOX5
- SOX6
- SOX9
- SP110
- SP7
- SPAG1
- SPARC
- SPART
- SPAST
- SPATA5
- SPATA5L1
- SPATA7
- SPECC1L
- SPEF2
- SPEG
- SPEN
- SPG11
- SPG21
- SPG7
- SPI1
- SPIB
- SPIDR
- SPINK5
- SPOP
- SPP1
- SPR
- SPRED1
- SPRED2
- SPRY4
- SPTA1
- SPTAN1
- SPTB
- SPTBN1
- SPTBN2
- SPTBN4
- SPTLC1
- SPTLC2
- SQOR
- SQSTM1
- SRA1
- SRCAP
- SRD5A3
- SREBF1
- SRP54
- SRPX2
- SRSF2
- SRY
- SSR4
- ST14
- ST3GAL3
- ST3GAL5
- STAC3
- STAG1
- STAG2
- STAG3
- STAMBP
- STAR
- STAT1
- STAT2
- STAT3
- STAT4
- STAT5B
- STAT6
- STEEP1
- STIL
- STIM1
- STK36
- STN1
- STOX1
- STRA6
- STRADA
- STS
- STT3A
- STT3B
- STUB1
- STX11
- STX16
- STX1A
- STX1B
- STX3
- STXBP1
- STXBP2
- SUCLA2
- SUCLG1
- SUFU
- SUGCT
- SULT2B1
- SUMF1
- SUOX
- SUPT16H
- SURF1
- SUZ12
- SVBP
- SYCE1
- SYCP3
- SYN1
- SYN2
- SYNE1
- SYNE2
- SYNGAP1
- SYNJ1
- SYP
- SYT1
- SYT14
- SYT2
- SZT2
Nom du gène
- TAB2
- TAC3
- TACO1
- TACR3
- TACSTD2
- TAF1
- TAF13
- TAF15
- TAF2
- TAF4B
- TAF6
- TAF8
- TAFAZZIN
- TALDO1
- TANC2
- TANGO2
- TAOK1
- TAPT1
- TARDBP
- TARS1
- TARS2
- TAS2R16
- TASP1
- TAT
- TBC1D20
- TBC1D23
- TBC1D24
- TBC1D2B
- TBC1D7
- TBC1D8B
- TBCD
- TBCE
- TBCK
- TBK1
- TBL1X
- TBL1XR1
- TBL2
- TBR1
- TBX1
- TBX15
- TBX19
- TBX2
- TBX20
- TBX3
- TBX4
- TBX5
- TBX6
- TBXAS1
- TBXT
- TCAP
- TCF12
- TCF20
- TCF3
- TCF4
- TCIRG1
- TCN2
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TDGF1
- TDO2
- TDP1
- TDP2
- TDRD9
- TECPR2
- TECR
- TELO2
- TENM3
- TENM4
- TENT5A
- TERC
- TERF2IP
- TERT
- TET2
- TET3
- TEX11
- TEX14
- TEX15
- TFAP2A
- TFAP2B
- TFE3
- TFG
- TFRC
- TG
- TGDS
- TGFB1
- TGFB2
- TGFB3
- TGFBI
- TGFBR1
- TGFBR2
- TGFBR3
- TGIF1
- TGM1
- TGM6
- TH
- THAP1
- THG1L
- THOC2
- THOC6
- THPO
- THRA
- THRB
- THSD1
- THUMPD1
- TIA1
- TIAM1
- TICAM1
- TIMELESS
- TIMM22
- TIMM50
- TIMM8A
- TIMMDC1
- TINF2
- TK2
- TKFC
- TKT
- TLCD3B
- TLK2
- TLL1
- TLR3
- TLR4
- TLR7
- TM4SF20
- TMCO1
- TMEM106B
- TMEM107
- TMEM126B
- TMEM127
- TMEM138
- TMEM147
- TMEM165
- TMEM185A
- TMEM199
- TMEM216
- TMEM218
- TMEM222
- TMEM231
- TMEM237
- TMEM240
- TMEM260
- TMEM270
- TMEM38B
- TMEM43
- TMEM53
- TMEM63A
- TMEM63C
- TMEM67
- TMEM70
- TMEM94
- TMLHE
- TMPRSS6
- TMTC3
- TMX2
- TNF
- TNFAIP3
- TNFRSF11A
- TNFRSF11B
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF1B
- TNFSF11
- TNFSF15
- TNFSF4
- TNIK
- TNNI3
- TNNT1
- TNNT2
- TNPO2
- TNPO3
- TNR
- TNRC6B
- TNXB
- TOE1
- TOGARAM1
- TOM1
- TOMM40
- TONSL
- TOP2A
- TOP3A
- TOPORS
- TOR1A
- TP53
- TP53RK
- TP63
- TP73
- TPH2
- TPI1
- TPK1
- TPM2
- TPM3
- TPO
- TPP1
- TPP2
- TPRKB
- TPRN
- TRAF3
- TRAF3IP1
- TRAF3IP2
- TRAF7
- TRAIP
- TRAK1
- TRAPPC10
- TRAPPC11
- TRAPPC12
- TRAPPC14
- TRAPPC2
- TRAPPC2L
- TRAPPC4
- TRAPPC6B
- TRAPPC9
- TRDN
- TREM2
- TREX1
- TRH
- TRHR
- TRIM2
- TRIM32
- TRIM36
- TRIM37
- TRIM71
- TRIM8
- TRIO
- TRIP11
- TRIP12
- TRIP13
- TRIP4
- TRIT1
- TRMT1
- TRMT10A
- TRMT10C
- TRMT5
- TRMU
- TRNT1
- TRPC3
- TRPC6
- TRPM6
- TRPM7
- TRPS1
- TRPV3
- TRPV4
- TRPV6
- TRRAP
- TSC1
- TSC2
- TSEN15
- TSEN2
- TSEN34
- TSEN54
- TSFM
- TSHB
- TSHR
- TSHZ1
- TSPAN12
- TSPAN7
- TSPOAP1
- TSPYL1
- TSR2
- TTBK2
- TTC12
- TTC19
- TTC26
- TTC5
- TTC8
- TTI2
- TTLL5
- TTN
- TTPA
- TTR
- TUB
- TUBA1A
- TUBA4A
- TUBA8
- TUBB
- TUBB2A
- TUBB2B
- TUBB3
- TUBB4A
- TUBB4B
- TUBB6
- TUBG1
- TUBGCP2
- TUBGCP4
- TUBGCP6
- TUFM
- TULP1
- TULP3
- TUSC3
- TWIST1
- TWIST2
- TWNK
- TXN2
- TXNDC15
- TXNRD2
- TYMP
- TYMS
- TYR
- TYROBP
Nom du gène
- UBA1
- UBA2
- UBA5
- UBAC2
- UBAP1
- UBB
- UBE2A
- UBE2T
- UBE3A
- UBE3B
- UBE4A
- UBE4B
- UBQLN2
- UBR1
- UBR7
- UBTF
- UCHL1
- UCP2
- UFC1
- UFD1
- UFM1
- UFSP2
- UGDH
- UGP2
- UGT1A1
- UMPS
- UNC119
- UNC13A
- UNC13D
- UNC45A
- UNC45B
- UNC80
- UNC93B1
- UPB1
- UPF3B
- UQCC2
- UQCC3
- UQCRB
- UQCRC1
- UQCRC2
- UQCRFS1
- UQCRH
- UQCRQ
- UROC1
- UROD
- UROS
- USB1
- USF3
- USH1C
- USH1G
- USH2A
- USP27X
- USP45
- USP48
- USP7
- USP8
- USP9X
Nom du gène
Nom du gène
Nom du gène
- ZAP70
- ZBTB11
- ZBTB16
- ZBTB18
- ZBTB20
- ZBTB24
- ZBTB7A
- ZC3H14
- ZC4H2
- ZDHHC9
- ZEB1
- ZEB2
- ZFHX2
- ZFHX4
- ZFP57
- ZFPM2
- ZFR
- ZFTA
- ZFYVE26
- ZFYVE27
- ZIC1
- ZIC2
- ZIC3
- ZMIZ1
- ZMPSTE24
- ZMYM2
- ZMYND10
- ZMYND11
- ZMYND15
- ZNF142
- ZNF148
- ZNF292
- ZNF335
- ZNF341
- ZNF365
- ZNF407
- ZNF408
- ZNF423
- ZNF462
- ZNF469
- ZNF513
- ZNF526
- ZNF592
- ZNF699
- ZNF711
- ZNFX1
- ZNHIT3
- ZNRF3
- ZPR1
- ZSWIM6
- ZSWIM7
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
