Human Phenotype Ontology

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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

Grandparent Node:
Puberty and gonadal disorders (HP:0008373)

Parent Node:
Absence of pubertal development (HP:0008197)

..Starting node
..Pubertal developmental failure in females (HP:0008647)

Term ID:

8647

Name:

Pubertal developmental failure in females

Synonym:

Definition:

Comments:

Reference:

HP:0008647

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008647	HP:0008647	Pubertal developmental failure in females	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0008647	HP:0008647	Pubertal developmental failure in females	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83

Genes (2) :LMNA ZMPSTE24

Diseases (1) :ORPHA:740

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.