Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin pigmentation (HP:0001000)help
Parent Node:
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Hyperpigmentation of the skin (HP:0000953)help
Parent Node:
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Hypopigmentation of the skin (HP:0001010)help
..Starting node
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Mixed hypo- and hyperpigmentation of the skin (HP:0009123)help
Term ID: 9123
Name: Mixed hypo- and hyperpigmentation of the skin
Synonym:
Definition:
Comments:
Reference: HP:0009123
Genes and Diseases:
 
       Child Nodes:
........expandAreas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines (HP:0007402) help
........expandHyperpigmented/hypopigmented macules (HP:0007441) help
................... HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented macules
........expandIncreased groin pigmentation with raindrop depigmentation (HP:0007450) help
........expandAxillary and groin hyperpigmentation and hypopigmentation (HP:0007471) help
........expandPatchy hypo- and hyperpigmentation (HP:0007509) help

 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
..expandPartial albinism (HP:0007443) help
..expandPiebaldism (HP:0007544) 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:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1116
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040281 - Very frequent110
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare173
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040281 - Very frequent173
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare6
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0SASH1 CL E G H2332819182OMIM:127500Dyschromatosis universalis hereditaria1
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0009123HP:0009123Mixed hypo- and hyperpigmentation of the skin0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0009123HP:0007450Increased groin pigmentation with raindrop depigmentation1 CL E G H
HP:0009123HP:0007471Axillary and groin hyperpigmentation and hypopigmentation1 CL E G H
HP:0009123HP:0007441Hyperpigmented/hypopigmented macules1ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1.116
HP:0009123HP:0007441Hyperpigmented/hypopigmented macules1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0009123HP:0007509Patchy hypo- and hyperpigmentation1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0009123HP:0007402Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0009123HP:0007441Hyperpigmented/hypopigmented macules1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0009123HP:0007441Hyperpigmented/hypopigmented macules1SASH1 CL E G H2332819182OMIM:127500Dyschromatosis universalis hereditaria.1
HP:0009123HP:0007509Patchy hypo- and hyperpigmentation1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0009123HP:0007509Patchy hypo- and hyperpigmentation1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0009123HP:0007494Discrete 2 to 5-mm hyper- and hypopigmented macules2KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173


Genes (12) :ADAR KRT14 KRT5 LMNA PCNT PIGN POFUT1 POGLUT1 PSENEN SASH1 SMS UBE2A

Diseases (11) :OMIM:127400 ORPHA:79399 ORPHA:79397 ORPHA:79145 OMIM:131960 ORPHA:79474 OMIM:210720 ORPHA:280633 OMIM:127500 ORPHA:3063 ORPHA:163956
 

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