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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Abnormality of dermal melanosomes (HP:0011125)help
Term ID: 11125
Name: Abnormality of dermal melanosomes
Synonym:
Definition: An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).
Comments:
Reference: HP:0011125
Genes and Diseases:
 
       Child Nodes:
........expandAccumulation of melanosomes in melanocytes (HP:0001008) help
........expandGiant melanosomes in melanocytes (HP:0005592) help
........expandAberrant melanosome maturation (HP:0007384) help

 Sister Nodes: 
..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
..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:0011125HP:0011125Abnormality of dermal melanosomes0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0011125HP:0011125Abnormality of dermal melanosomes0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinism1
HP:0011125HP:0011125Abnormality of dermal melanosomes0GPR143 CL E G H493520145OMIM:300500Albinism, ocular, type I64
HP:0011125HP:0011125Abnormality of dermal melanosomes0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinism64
HP:0011125HP:0011125Abnormality of dermal melanosomes0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0011125HP:0011125Abnormality of dermal melanosomes0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 135
HP:0011125HP:0011125Abnormality of dermal melanosomes0RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0011125HP:0007384Aberrant melanosome maturation1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0011125HP:0005592Giant melanosomes in melanocytes1AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040283 - Occasional1
HP:0011125HP:0005592Giant melanosomes in melanocytes1GPR143 CL E G H493520145OMIM:300500Albinism, ocular, type I.64
HP:0011125HP:0005592Giant melanosomes in melanocytes1GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinismHP:0040283 - Occasional64
HP:0011125HP:0005592Giant melanosomes in melanocytes1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0011125HP:0001008Accumulation of melanosomes in melanocytes1MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 1.35
HP:0011125HP:0001008Accumulation of melanosomes in melanocytes1RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267


Genes (6) :AP3B1 AP3D1 GPR143 LYST MYO5A RAB27A

Diseases (6) :OMIM:608233 ORPHA:54 OMIM:300500 OMIM:214500 OMIM:214450 OMIM:607624
 

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