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 circulating cortisol level (HP:0011731)

Grandparent Node:
Adrenal overactivity (HP:0002717)

Parent Node:
Increased circulating cortisol level (HP:0003118)

..Starting node
..Primary hypercortisolism (HP:0001579)

Term ID:

1579

Name:

Primary hypercortisolism

Synonym:

ACTH-independent hypercortisolemia

Definition:

Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.

Comments:

Reference:

HP:0001579

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated serum 11-deoxycortisol (HP:0025436)

Secondary hypercortisolism (HP:0011744)

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:0001579	HP:0001579	Primary hypercortisolism	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0001579	HP:0001579	Primary hypercortisolism	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0001579	HP:0001579	Primary hypercortisolism	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0001579	HP:0001579	Primary hypercortisolism	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0001579	HP:0001579	Primary hypercortisolism	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0001579	HP:0001579	Primary hypercortisolism	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0001579	HP:0001579	Primary hypercortisolism	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0001579	HP:0001579	Primary hypercortisolism	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0001579	HP:0001579	Primary hypercortisolism	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0001579	HP:0001579	Primary hypercortisolism	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134

Genes (9) :CDKN1A CDKN1B CDKN2B CDKN2C GNAS MEN1 PDE11A PRKACA PRKAR1A

Diseases (6) :ORPHA:652 OMIM:219080 ORPHA:562 OMIM:610475 OMIM:615830 OMIM:610489

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

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