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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

Disease Browser
Parent Node: Adrenal Hyperplasia, Congenital (D000312)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Puberty, Precocious (D011629)
..Starting node ..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
Child Nodes:
Sister Nodes:
..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..Familial Testotoxicosis (C536961)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty (C567168)
..Precocious Puberty, Central (C562787)
..Sexual precocity (C538542)
..Spastic paraplegia with precocious puberty (C536874)
..Spondylodysplasia And Premature Pubarche (C567552)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	320
Name:	Adrenal Hypoplasia, Congenital, with Precocious Puberty
Definition:
Alternative IDs:
ParentIDs:	MESH:D000312\|MESH:D011629\|MESH:D040181
TreeNumbers:	C12.706.316.129.500/C564568 \|C13.351.875.253.129.500/C564568 \|C16.131.939.316.129.500/C564568 \|C16.320.033/C564568 \|C16.320.322/C564568 \|C16.320.565.925.249/C564568 \|C18.452.648.925.249/C564568 \|C19.053.440/C564568 \|C19.391.119.129.500/C564568 \|C19.391.693/C56456
Synonyms:	Adrenal Insufficiency, Progressive, and Hypogonadotropic Hypogonadism
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Metabolic disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C564568 MeSH: C564568 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants