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:
Neoplasm of the adrenal cortex (HP:0100641)

Parent Node:
Adrenocortical adenoma (HP:0008256)

..Starting node
..Secretory adrenocortical adenoma (HP:0011746)

Term ID:

11746

Name:

Secretory adrenocortical adenoma

Synonym:

Secretory adrenal adenoma

Definition:

An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.

Comments:

Reference:

HP:0011746

Genes and Diseases:

Child Nodes:

Sister Nodes:

Non-secretory adrenocortical adenoma (HP:0011745)

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:0011746	HP:0011746	Secretory adrenocortical adenoma	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040282 - Frequent	44
HP:0011746	HP:0011746	Secretory adrenocortical adenoma	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	112
HP:0011746	HP:0011746	Secretory adrenocortical adenoma	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	73

Genes (3) :CLCN2 CYP11B1 CYP11B2

Diseases (2) :ORPHA:404 ORPHA:403

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