Human Phenotype Ontology 
Grandparent Node:
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Irregular hyperpigmentation (HP:0007400)help
Grandparent Node:
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Macule (HP:0012733)help
Parent Node:
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Hypermelanotic macule (HP:0001034)help
..Starting node
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Macular hyperpigmented dermopathy (HP:0007412)help
Term ID: 7412
Name: Macular hyperpigmented dermopathy
Synonym:
Definition:
Comments:
Reference: HP:0007412
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLarge cafe-au-lait macules with irregular margins (HP:0005605) help
..expandMongolian blue spot (HP:0011369) help
..expandMultiple lentigines (HP:0001003) 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:0007412HP:0007412Macular hyperpigmented dermopathy0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129


Genes (1) :COL17A1

Diseases (1) :OMIM:619787
 

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