Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Osteochondrodysplasias (D010009)
Parent Node: Puberty, Precocious (D011629)
..Starting node ..Spondylodysplasia And Premature Pubarche (C567552)
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:	10578
Name:	Spondylodysplasia And Premature Pubarche
Definition:
Alternative IDs:
ParentIDs:	MESH:D010009\|MESH:D011629
TreeNumbers:	C05.116.099.708/C567552 \|C19.391.693/C567552
Synonyms:
Slim Mappings:	Endocrine system disease\|Musculoskeletal disease
Reference:	MedGen: C567552 MeSH: C567552 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants