Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of skin morphology (HP:0011121)help
Parent Node:
expandAbnormality of skin pigmentation (HP:0001000)help
..Starting node
..expandMottled pigmentation (HP:0001070)help
Term ID: 1070
Name: Mottled pigmentation
Synonym: Mottled skin coloring; Mottled skin colouring; Stippled pigmentation
Definition: Patchy and irregular skin pigmentation.
Comments:
Reference: HP:0001070
Genes and Diseases:
 
       Child Nodes:
........expandMottled pigmentation of the trunk and proximal extremities (HP:0007438) help
........expandMottled pigmentation of photoexposed areas (HP:0007511) help

 Sister Nodes: 
..expandAbnormality of dermal melanosomes (HP:0011125) help
..expandBlotching pigmentation of the skin (HP:0007610) help
..expandDepigmentation/hyperpigmentation of skin (HP:0007483) 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
..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:0001070HP:0001070Mottled pigmentation0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidismHP:0040283 - Occasional121
HP:0001070HP:0001070Mottled pigmentation0HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathyHP:0040281 - Very frequent55
HP:0001070HP:0001070Mottled pigmentation0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040281 - Very frequent110
HP:0001070HP:0001070Mottled pigmentation0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0001070HP:0001070Mottled pigmentation0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040281 - Very frequent173
HP:0001070HP:0001070Mottled pigmentation0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0001070HP:0001070Mottled pigmentation0RDH11 CL E G H5110917964OMIM:616108Retinal dystrophy, juvenile cataracts, and short stature syndrome.2
HP:0001070HP:0001070Mottled pigmentation0RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome.445
HP:0001070HP:0001070Mottled pigmentation0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0001070HP:0007511Mottled pigmentation of photoexposed areas1 CL E G H
HP:0001070HP:0007438Mottled pigmentation of the trunk and proximal extremities1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173


Genes (8) :DUOX2 HPGD KRT14 KRT5 LMNA RDH11 RECQL4 ZMPSTE24

Diseases (8) :ORPHA:226316 ORPHA:1525 ORPHA:79397 OMIM:131960 OMIM:248370 OMIM:616108 OMIM:266280 OMIM:608612
 

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