Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 skin (HP:0000951)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

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

..Starting node
..Steatocystoma multiplex (HP:0012035)

Term ID:

12035

Name:

Steatocystoma multiplex

Synonym:

Definition:

Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).

Comments:

Reference:

HP:0012035

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acanthoma (HP:0025432)

Actinic keratosis (HP:0025127)

Adenoma sebaceum (HP:0009720)

Basal cell carcinoma (HP:0002671)

Cutaneous angiolipomas (HP:0006773)

Cutaneous leiomyoma (HP:0007620)

Cutaneous leiomyosarcoma (HP:0006755)

Cutaneous mastocytosis (HP:0200151)

Cutaneous melanoma (HP:0012056)

Cutaneous myxoma (HP:0030428)

Eccrine syringofibroadenoma (HP:0031018)

Fibrofolliculoma (HP:0030436)

Frontal cutaneous lipoma (HP:0007541)

Kaposi's sarcoma (HP:0100726)

Keratoacanthoma (HP:0031525)

Lymphocytoma cutis (HP:0031549)

Merkel cell skin cancer (HP:0030447)

Multiple cutaneous leiomyomas (HP:0007437)

Multiple cutaneous malignancies (HP:0007606)

Myxoid subcutaneous tumors (HP:0006769)

Neurofibromas (HP:0001067)

Papilloma (HP:0012740)

Peripheral Schwannoma (HP:0009593)

Seborrheic keratosis (HP:0031287)

Skin appendage neoplasm (HP:0012842)

Squamous cell carcinoma (HP:0002860)

Subcutaneous lipoma (HP:0001031)

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:0012035	HP:0012035	Steatocystoma multiplex	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	27
HP:0012035	HP:0012035	Steatocystoma multiplex	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	23
HP:0012035	HP:0012035	Steatocystoma multiplex	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0012035	HP:0012035	Steatocystoma multiplex	0	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis	HP:0040281 - Very frequent	23
HP:0012035	HP:0012035	Steatocystoma multiplex	0	KRT17 CL E G H	3872	6427	OMIM:184500	Steatocystoma multiplex	.	23
HP:0012035	HP:0012035	Steatocystoma multiplex	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	41
HP:0012035	HP:0012035	Steatocystoma multiplex	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	4
HP:0012035	HP:0012035	Steatocystoma multiplex	0	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4	.	4

Genes (4) :KRT16 KRT17 KRT6A KRT6B

Diseases (5) :ORPHA:2309 OMIM:167210 ORPHA:841 OMIM:184500 OMIM:615728

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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