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: adrenogenital syndrome (MONDO:0015898)
Parent Node: chronic primary adrenal insufficiency (MONDO:0015129)
Parent Node: genetic endocrine growth disease (MONDO:0015514)
Parent Node: rare endocrine growth disease (MONDO:0019590)
Parent Node: steroid inherited metabolic disorder (MONDO:0005523)
..Starting node ..congenital adrenal hyperplasia ()
Child Nodes:
........classic congenital adrenal hyperplasia ()
........classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ()
........congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ()
........congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ()
........congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ()
........congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency () L: 00652;
........congenital lipoid adrenal hyperplasia due to STAR deficency ()
........non-classic congenital adrenal hyperplasia ()
Sister Nodes:
..apparent mineralocorticoid excess syndrome ()
..congenital adrenal hyperplasia ()
..congenital bile acid synthesis defect ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18479
Name:	congenital adrenal hyperplasia
Definition:	Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adrenal hyperplasia; adrenal hyperplasia, congenital; adrenogenital disorder; adrenogenital syndrome; CAH; congenital adrenal gland hyperplasia; congenital lipoid adrenal hyperplasia; lipoid CAH
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal