Human Phenotype Ontology

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:
Localized skin lesion (HP:0011355)

Parent Node:
Skin nodule (HP:0200036)

..Starting node
..Umbilicated nodule (HP:0025103)

Term ID:

25103

Name:

Umbilicated nodule

Synonym:

Definition:

A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).

Comments:

Reference:

HP:0025103

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acrokeratosis (HP:0200016)

Hyperpigmented nodule (HP:0025529)

Nodular changes affecting the eyelids (HP:0010732)

Osteoma cutis (HP:0025027)

Subcutaneous nodule (HP:0001482)

Yellow nodule (HP:0025554)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025103	HP:0025103	Umbilicated nodule	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.