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:
Neoplasm by histology (HP:0011792)

Parent Node:
Hamartoma (HP:0010566)

..Starting node
..Cutaneous hamartoma (HP:0031111)

Term ID:

31111

Name:

Cutaneous hamartoma

Synonym:

Skin hamartoma

Definition:

A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.

Comments:

Reference:

HP:0031111

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral hamartoma (HP:0009731)

Chorangioma (HP:0100883)

Fibrous hamartoma (HP:0100882)

Hamartoma of the eye (HP:0010568)

Hamartomatous polyposis (HP:0004390)

Lymphangioma (HP:0100764)

Numerous nevi (HP:0001054)

Odontoma (HP:0011068)

Renal hamartoma (HP:0008696)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031111	HP:0031111	Cutaneous hamartoma	0	CL E G H

Genes (0) :

Diseases (0) :

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