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 gland dysgenesis (HP:0008216)

..Starting node
..Adrenal gland agenesis (HP:0011743)

Term ID:

11743

Name:

Adrenal gland agenesis

Synonym:

Definition:

Absent development of the adrenal gland.

Comments:

Reference:

HP:0011743

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:0011743	HP:0011743	Adrenal gland agenesis	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0011743	HP:0011743	Adrenal gland agenesis	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	HP:0040281 - Very frequent	4

Genes (2) :WNT3 WNT4

Diseases (2) :OMIM:273395 OMIM:611812

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