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:
Hypopigmentation of the skin (HP:0001010)

Grandparent Node:
Macule (HP:0012733)

Parent Node:
Hypomelanotic macule (HP:0009719)

..Starting node
..Ash-leaf spot (HP:0030679)

Term ID:

30679

Name:

Ash-leaf spot

Synonym:

Definition:

A hypopigmented spot in the shape of a leaf from the mountain ash tree.

Comments:

Reference:

HP:0030679

Genes and Diseases:

Child Nodes:

Sister Nodes:

Confetti-like hypopigmented macules (HP:0007449)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030679	HP:0030679	Ash-leaf spot	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.