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 pigmentation (HP:0001000)

Parent Node:
Hypopigmentation of the skin (HP:0001010)

..Starting node
..Confetti hypopigmentation pattern of lower leg skin (HP:0007554)

Term ID:

7554

Name:

Confetti hypopigmentation pattern of lower leg skin

Synonym:

Confetti hypopigmentation pattern of lower leg skin

Definition:

Comments:

Reference:

HP:0007554

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent skin pigmentation (HP:0200098)

Generalized hypopigmentation (HP:0007513)

Hypomelanotic macule (HP:0009719)

Hypopigmented skin patches (HP:0001053)

Hypopigmented streaks (HP:0007535)

Mixed hypo- and hyperpigmentation of the skin (HP:0009123)

Partial albinism (HP:0007443)

Piebaldism (HP:0007544)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007554	HP:0007554	Confetti hypopigmentation pattern of lower leg skin	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.