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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: Gonadal Disorders (D006058)
..Starting node ..Puberty, Delayed (D011628)
Child Nodes:
........Cantu Sanchez-Corona Fragoso syndrome (C535571)
Sister Nodes:
..Disorders of Sex Development (D012734) 107
..Female Athlete Triad Syndrome (D053716)
..Hypogonadism (D007006) 62
..Ovarian Diseases (D010049) 51
..Puberty, Delayed (D011628) 1
..Puberty, Precocious (D011629) 8
..Testicular Diseases (D013733) 28
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9462
Name:	Puberty, Delayed
Definition:	The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Alternative IDs:
ParentIDs:	MESH:D006058
TreeNumbers:	C19.391.690
Synonyms:	Delayed Puberty
Slim Mappings:	Endocrine system disease
Reference:	MedGen: D011628 MeSH: D011628 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants