Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Abnormality of skin pigmentation (HP:0001000)help
..Starting node
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Depigmentation/hyperpigmentation of skin (HP:0007483)help
Term ID: 7483
Name: Depigmentation/hyperpigmentation of skin
Synonym:
Definition:
Comments:
Reference: HP:0007483
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of dermal melanosomes (HP:0011125) help
..expandBlotching pigmentation of the skin (HP:0007610) help
..expandFine, reticulate skin pigmentation (HP:0007617) help
..expandFreckling (HP:0001480) help
..expandHyperpigmentation of the skin (HP:0000953) help
..expandHypopigmentation of the skin (HP:0001010) help
..expandMelanocytic nevus (HP:0000995) help
..expandMottled pigmentation (HP:0001070) help
..expandNumerous pigmented freckles (HP:0007587) help
..expandPerioral hyperpigmentation (HP:0010802) help
..expandPeriorbital hyperpigmentation (HP:0001106) help
..expandPigmentation anomalies of sun-exposed skin (HP:0007623) help
..expandProfuse pigmented skin lesions (HP:0005587) help
..expandReticulated skin pigmentation (HP:0007427) help
..expandSymmetric great toe depigmentation (HP:0200015) help
..expandVitiligo (HP:0001045) 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:0007483HP:0007483Depigmentation/hyperpigmentation of skin0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0007483HP:0007483Depigmentation/hyperpigmentation of skin0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0007483HP:0007483Depigmentation/hyperpigmentation of skin0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0007483HP:0007483Depigmentation/hyperpigmentation of skin0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040282 - Frequent27


Genes (4) :AKT1 KRT14 KRT5 USP9X

Diseases (3) :OMIM:176920 ORPHA:79396 ORPHA:480880
 

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