MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: genetic biliary tract disease (MONDO:0015509)
Parent Node: genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability (MONDO:0043008)
Parent Node: polymalformative genetic syndrome with increased risk of developing cancer (MONDO:0015945)
Parent Node: rare disease with glaucoma as a major feature (MONDO:0020222)
Parent Node: rare syndrome with cardiac malformations (MONDO:0015506)
Parent Node: syndromic developmental defect of the eye (MONDO:0015218)
Parent Node: syndromic renal or urinary tract malformation (MONDO:0019721)
Parent Node: syndromic visceral malformation (MONDO:0015214)
..Starting node ..Alagille syndrome ()
Child Nodes:
........Alagille syndrome due to 20p12 microdeletion ()
........Alagille syndrome due to a JAG1 point mutation ()
........Alagille syndrome due to a NOTCH2 point mutation ()
Sister Nodes:
..Alagille syndrome ()
..biliary atresia with splenic malformation syndrome ()
..hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome ()
..Meckel syndrome ()
..renal-hepatic-pancreatic dysplasia ()
..splenogonadal fusion-limb defects-micrognathia syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	7318
Name:	Alagille syndrome
Definition:	Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Alagille syndrome; Alagille-Watson syndrome; Arteriohepatic dysplasia; Cardiovertebral syndrome; hepatic ductular hypoplasia; Hepatofacioneurocardiovertebral syndrome; paucity of interlobular bile ducts; syndromic bile duct paucity; Watson Alagille syndrome; Watson-Miller syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: MPV17;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal