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: inherited organic acidemia (MONDO:0000688)
Parent Node: sterol metabolism disorder (MONDO:0019256)
..Starting node ..inborn disorder of bile acid synthesis ()
Child Nodes:
........bile acid synthesis defect with cholestasis and malabsorption ()
........hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency ()
........idiopathic malabsorption due to bile acid synthesis defects ()
Sister Nodes:
..cholesterol metabolism disease ()
..inborn disorder of bile acid synthesis ()
..recessive X-linked ichthyosis ()
..sterol biosynthesis disorder ()
..sterol metabolism disorder with epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19218
Name:	inborn disorder of bile acid synthesis
Definition:	Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of bile acid synthesis; inborn bile acid biosynthetic process disorder; inborn error of bile acid biosynthetic process; inborn errors of bile acid synthesis; rare inborn error of bile acid biosynthetic process; rare inborn error of bile acid biosynthetic process
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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