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:
Abnormality of adrenal morphology (HP:0011732)

Parent Node:
Adrenocortical abnormality (HP:0000849)

..Starting node
..Adrenocortical hypoplasia (HP:0008182)

Term ID:

8182

Name:

Adrenocortical hypoplasia

Synonym:

Small adrenal cortex

Definition:

Comments:

Reference:

HP:0008182

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pigmented micronodular adrenocortical disease (HP:0001580)

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:0008182	HP:0008182	Adrenocortical hypoplasia	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13

Genes (1) :GK

Diseases (1) :OMIM:307030

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