Human Phenotype Ontology 
Grandparent Node:
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Macule (HP:0012733)help
Grandparent Node:
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Mixed hypo- and hyperpigmentation of the skin (HP:0009123)help
Parent Node:
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Hyperpigmented/hypopigmented macules (HP:0007441)help
..Starting node
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Discrete 2 to 5-mm hyper- and hypopigmented macules (HP:0007494)help
Term ID: 7494
Name: Discrete 2 to 5-mm hyper- and hypopigmented macules
Synonym:
Definition:
Comments:
Reference: HP:0007494
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007494HP:0007494Discrete 2 to 5-mm hyper- and hypopigmented macules0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173


Genes (1) :KRT5

Diseases (1) :OMIM:131960
 

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