Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of skin pigmentation (HP:0001000)help
Parent Node:
expandHypopigmentation of the skin (HP:0001010)help
..Starting node
..expandPiebaldism (HP:0007544)help
Term ID: 7544
Name: Piebaldism
Synonym:
Definition: Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.
Comments:
Reference: HP:0007544
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent skin pigmentation (HP:0200098) help
..expandConfetti hypopigmentation pattern of lower leg skin (HP:0007554) help
..expandGeneralized hypopigmentation (HP:0007513) help
..expandHypomelanotic macule (HP:0009719) help
..expandHypopigmented skin patches (HP:0001053) help
..expandHypopigmented streaks (HP:0007535) help
..expandMixed hypo- and hyperpigmentation of the skin (HP:0009123) help
..expandPartial albinism (HP:0007443) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007544HP:0007544Piebaldism0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007544HP:0007544Piebaldism0KIT CL E G H38156342OMIM:172800Piebald trait.327
HP:0007544HP:0007544Piebaldism0KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040281 - Very frequent327
HP:0007544HP:0007544Piebaldism0SNAI2 CL E G H659111094OMIM:172800Piebald trait.19
HP:0007544HP:0007544Piebaldism0SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040281 - Very frequent19
HP:0007544HP:0007544Piebaldism0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (4) :COL25A1 KIT SNAI2 ZFHX4

Diseases (3) :ORPHA:91411 OMIM:172800 ORPHA:2884
 

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