Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of skin pigmentation (HP:0001000)help
Grandparent Node:
expandNevus (HP:0003764)help
Parent Node:
expandMelanocytic nevus (HP:0000995)help
..Starting node
..expandCongenital giant melanocytic nevus (HP:0005600)help
Term ID: 5600
Name: Congenital giant melanocytic nevus
Synonym: Giant pigmented hairy nevus; Giant pigmented mole; Giant pigmented nevus
Definition: The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.
Comments:
Reference: HP:0005600
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHyperpigmented nevi (HP:0007481) 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:0005600HP:0005600Congenital giant melanocytic nevus0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0005600HP:0005600Congenital giant melanocytic nevus0MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevusHP:0040281 - Very frequent124
HP:0005600HP:0005600Congenital giant melanocytic nevus0NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevusHP:0040281 - Very frequent102
HP:0005600HP:0005600Congenital giant melanocytic nevus0NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102


Genes (3) :HRAS MC1R NRAS

Diseases (2) :OMIM:137550 ORPHA:626
 

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