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:
Adrenocortical abnormality (HP:0000849)

..Starting node
..Pigmented micronodular adrenocortical disease (HP:0001580)

Term ID:

1580

Name:

Pigmented micronodular adrenocortical disease

Synonym:

Definition:

Comments:

Reference:

HP:0001580

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adrenocortical hypoplasia (HP:0008182)

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:0001580	HP:0001580	Pigmented micronodular adrenocortical disease	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040280 - Obligate	13
HP:0001580	HP:0001580	Pigmented micronodular adrenocortical disease	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0001580	HP:0001580	Pigmented micronodular adrenocortical disease	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040281 - Very frequent	13
HP:0001580	HP:0001580	Pigmented micronodular adrenocortical disease	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040281 - Very frequent	75
HP:0001580	HP:0001580	Pigmented micronodular adrenocortical disease	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040281 - Very frequent	2
HP:0001580	HP:0001580	Pigmented micronodular adrenocortical disease	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040280 - Obligate	134
HP:0001580	HP:0001580	Pigmented micronodular adrenocortical disease	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0001580	HP:0001580	Pigmented micronodular adrenocortical disease	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040281 - Very frequent	134

Genes (4) :PDE11A PDE8B PRKACA PRKAR1A

Diseases (4) :ORPHA:1359 OMIM:610475 ORPHA:189439 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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