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
..Congenital adrenal hypoplasia (HP:0008244)

Term ID:

8244

Name:

Congenital adrenal hypoplasia

Synonym:

Congenital adrenal gland hypoplasia

Definition:

A type of adrenal hypoplasia with congenital onset.

Comments:

Reference:

HP:0008244

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adrenal medullary hypoplasia (HP:0008239)

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:0008244	HP:0008244	Congenital adrenal hypoplasia	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0008244	HP:0008244	Congenital adrenal hypoplasia	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0008244	HP:0008244	Congenital adrenal hypoplasia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83

Genes (3) :LMNA POLE ZMPSTE24

Diseases (2) :ORPHA:1662 OMIM:618336

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