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

..Starting node
..Decreased growth hormone responses to growth hormone-releasing hormone challenge (HP:0033579)

Term ID:

33579

Name:

Decreased growth hormone responses to growth hormone-releasing hormone challenge

Synonym:

Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge

Definition:

Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.

Comments:

Reference:

HP:0033579

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033579	HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	134

Genes (1) :PRKAR1A

Diseases (1) :OMIM:101800

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