Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin pigmentation (HP:0001000)help
Grandparent Node:
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Nevus (HP:0003764)help
Parent Node:
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Melanocytic nevus (HP:0000995)help
..Starting node
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Hyperpigmented nevi (HP:0007481)help
Term ID: 7481
Name: Hyperpigmented nevi
Synonym:
Definition:
Comments:
Reference: HP:0007481
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital giant melanocytic nevus (HP:0005600) help
..expandHyperpigmented nevi and streak (HP:0005606) help
..expandNumerous congenital melanocytic nevi (HP:0005603) 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:0007481HP:0007481Hyperpigmented nevi0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040284 - Very rare124
HP:0007481HP:0007481Hyperpigmented nevi0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040284 - Very rare121
HP:0007481HP:0007481Hyperpigmented nevi0RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1


Genes (3) :MC1R OCA2 RBM28

Diseases (2) :ORPHA:79432 ORPHA:157954
 

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