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:
Adrenal hypoplasia (HP:0000835)

..Starting node
..Adrenal medullary hypoplasia (HP:0008239)

Term ID:

8239

Name:

Adrenal medullary hypoplasia

Synonym:

Small adrenal medulla

Definition:

Developmental hypoplasia of the adrenal medulla.

Comments:

Reference:

HP:0008239

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital adrenal hypoplasia (HP:0008244)

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:0008239	HP:0008239	Adrenal medullary hypoplasia	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4

Genes (1) :TBC1D7

Diseases (1) :OMIM:248000

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