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
..Sebaceous gland carcinoma (HP:0030410)

Term ID:

30410

Name:

Sebaceous gland carcinoma

Synonym:

Sebaceous carcinoma

Definition:

A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)

Comments:

Reference:

HP:0030410

Genes and Diseases:

Child Nodes:

Sister Nodes:

Apocrine hidrocystoma (HP:0031454)

Cylindroma (HP:0031024)

Follicular infundibulum tumor (HP:0031548)

Hair follicle neoplasm (HP:0012843)

Pilomatrixoma (HP:0030434)

Poroma (HP:0031405)

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:0030410	HP:0030410	Sebaceous gland carcinoma	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0030410	HP:0030410	Sebaceous gland carcinoma	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162

Genes (2) :MLH1 MSH2

Diseases (1) :OMIM:158320

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