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 the adrenal glands (HP:0000834)

Parent Node:
Abnormality of adrenal morphology (HP:0011732)

..Starting node
..Adrenocortical cytomegaly (HP:0008186)

Term ID:

8186

Name:

Adrenocortical cytomegaly

Synonym:

Definition:

The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.

Comments:

Reference:

HP:0008186

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adrenal calcification (HP:0010512)

Adrenal gland dysgenesis (HP:0008216)

Adrenal hyperplasia (HP:0008221)

Adrenal hypoplasia (HP:0000835)

Adrenocortical abnormality (HP:0000849)

Ectopic adrenal gland (HP:0011742)

Neoplasm of the adrenal gland (HP:0100631)

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:0008186	HP:0008186	Adrenocortical cytomegaly	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0008186	HP:0008186	Adrenocortical cytomegaly	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0008186	HP:0008186	Adrenocortical cytomegaly	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0008186	HP:0008186	Adrenocortical cytomegaly	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0008186	HP:0008186	Adrenocortical cytomegaly	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1

Genes (5) :CDKN1C H19-ICR IGF2 KCNQ1 KCNQ1OT1

Diseases (1) :OMIM:130650

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