Human Phenotype Ontology 
Grandparent Node:
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Localized skin lesion (HP:0011355)help
Parent Node:
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Nevus (HP:0003764)help
..Starting node
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Blue nevus (HP:0100814)help
Term ID: 100814
Name: Blue nevus
Synonym: Congenital dermal melanocytosis; Mongolian spot
Definition:
Comments:
Reference: HP:0100814
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtypical nevi in non-sun exposed areas (HP:0001074) help
..expandAtypical nevus (HP:0001062) help
..expandCongenital panfollicular nevus (HP:0025471) help
..expandConnective tissue nevi (HP:0100898) help
..expandEpidermal nevus (HP:0010816) help
..expandMelanocytic nevus (HP:0000995) help
..expandNevus flammeus (HP:0001052) help
..expandNevus of Ota (HP:0009920) help
..expandNevus sebaceus (HP:0025511) help
..expandNevus spilus (HP:0025510) help
..expandNumerous nevi (HP:0001054) 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:0100814HP:0100814Blue nevus0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional1
HP:0100814HP:0100814Blue nevus0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0100814HP:0100814Blue nevus0FOCAD CL E G H5491423377OMIM:6199913
HP:0100814HP:0100814Blue nevus0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional16
HP:0100814HP:0100814Blue nevus0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0100814HP:0100814Blue nevus0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0100814HP:0100814Blue nevus0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0100814HP:0100814Blue nevus0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0100814HP:0100814Blue nevus0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0100814HP:0100814Blue nevus0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0100814HP:0100814Blue nevus0TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040283 - Occasional62


Genes (11) :ARL6IP6 CAMK2A FOCAD GNA11 HEXB HRAS PDE11A PRKAR1A PUS3 TASP1 TYRP1

Diseases (9) :ORPHA:1556 OMIM:617798 OMIM:619991 ORPHA:309155 ORPHA:2874 ORPHA:1359 ORPHA:488627 OMIM:618950 ORPHA:79433
 

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