Human Phenotype Ontology 
Grandparent Node:
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Localized skin lesion (HP:0011355)help
Parent Node:
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Hypopigmentation of the skin (HP:0001010)help
Parent Node:
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Macule (HP:0012733)help
..Starting node
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Hypomelanotic macule (HP:0009719)help
Term ID: 9719
Name: Hypomelanotic macule
Synonym: Hypomelanotic macules
Definition: Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.
Comments:
Reference: HP:0009719
Genes and Diseases:
 
       Child Nodes:
........expandConfetti-like hypopigmented macules (HP:0007449) help
........expandAsh-leaf spot (HP:0030679) help

 Sister Nodes: 
..expandErythematous macule (HP:0025475) help
..expandHypermelanotic macule (HP:0001034) help
..expandHyperpigmented/hypopigmented macules (HP:0007441) 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:0009719HP:0009719Hypomelanotic macule0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent23
HP:0009719HP:0009719Hypomelanotic macule0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0009719HP:0009719Hypomelanotic macule0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0009719HP:0009719Hypomelanotic macule0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0009719HP:0009719Hypomelanotic macule0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0009719HP:0009719Hypomelanotic macule0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0009719HP:0009719Hypomelanotic macule0POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 2.2
HP:0009719HP:0009719Hypomelanotic macule0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent1090
HP:0009719HP:0009719Hypomelanotic macule0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0009719HP:0009719Hypomelanotic macule0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent2738
HP:0009719HP:0009719Hypomelanotic macule0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0009719HP:0030679Ash-leaf spot1 CL E G H


Genes (6) :IFNG KRT14 KRT5 POFUT1 TSC1 TSC2

Diseases (6) :ORPHA:805 OMIM:613254 ORPHA:79399 ORPHA:79397 OMIM:615327 OMIM:191100
 

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