Human Phenotype Ontology

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

..Starting node
..Atrophic pituitary gland (HP:0410279)

Term ID:

410279

Name:

Atrophic pituitary gland

Synonym:

Atrophic pituitary; Pituitary gland atrophy

Definition:

Partial or complete wasting (loss) of the pituitary gland.

Comments:

Reference:

HP:0410279

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:0410279	HP:0410279	Atrophic pituitary gland	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96

Genes (1) :NDE1

Diseases (1) :ORPHA:2177

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