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 hyperplasia (HP:0008221)

..Starting node
..Macronodular adrenal hyperplasia (HP:0008231)

Term ID:

8231

Name:

Macronodular adrenal hyperplasia

Synonym:

Definition:

Comments:

Reference:

HP:0008231

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital adrenal hyperplasia (HP:0008258)

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:0008231	HP:0008231	Macronodular adrenal hyperplasia	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0008231	HP:0008231	Macronodular adrenal hyperplasia	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040281 - Very frequent	7
HP:0008231	HP:0008231	Macronodular adrenal hyperplasia	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0008231	HP:0008231	Macronodular adrenal hyperplasia	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040281 - Very frequent	101

Genes (2) :ARMC5 GNAS

Diseases (3) :OMIM:615954 ORPHA:189427 OMIM:219080

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