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 skin adnexa morphology (HP:0011138)

Grandparent Node:
Neoplasm of the skin (HP:0008069)

Parent Node:
Skin appendage neoplasm (HP:0012842)

..Starting node
..Apocrine hidrocystoma (HP:0031454)

Term ID:

31454

Name:

Apocrine hidrocystoma

Synonym:

Definition:

A cystic lesions that forms a benign tumor of an apocrine sweat gland.

Comments:

Reference:

HP:0031454

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cylindroma (HP:0031024)

Follicular infundibulum tumor (HP:0031548)

Hair follicle neoplasm (HP:0012843)

Pilomatrixoma (HP:0030434)

Poroma (HP:0031405)

Sebaceous gland carcinoma (HP:0030410)

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:0031454	HP:0031454	Apocrine hidrocystoma	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.	71

Genes (1) :WNT10A

Diseases (1) :OMIM:224750

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