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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: Puberty, Precocious (D011629)
..Starting node ..Precocious Puberty, Central (C562787)
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:

9208

Name:

Precocious Puberty, Central

Definition:

Alternative IDs:

OMIM:176400

ParentIDs:

MESH:D011629

TreeNumbers:

C19.391.693/C562787

Synonyms:

CPPB1 |PRECOCIOUS PUBERTY, CENTRAL, 1

Slim Mappings:

Endocrine system disease

Reference:

MedGen: C562787
MeSH: C562787
OMIM: 176400;

Genes: KISS1R;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0008232	Elevated circulating follicle stimulating hormone level
3	HP:0011969	Elevated circulating luteinizing hormone level
4	HP:0000821	Hypothyroidism	HP:0040283
5	HP:0008236	Isosexual precocious puberty
6	HP:0004322	Short stature

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_032551.4(KISS1R):c.1157G>C (p.Arg386Pro)	84634	KISS1R	Pathogenic	121908499	RCV000006116;	N	MedGen:C0342543,OMIM:176400,ORPHA:759,SNOMED CT:237816004	19	920708	920708	NM_032551.4:c.1157G>C	NP_115940.2:p.Arg386Pro	NC_000019.9:g.920708G>C	OMIM Allelic Variant:604161.0006	C0342543 176400 Central precocious puberty