Human Phenotype Ontology 
Grandparent Node:
expandobsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expandAbnormal sclera morphology (HP:0000591)help
..Starting node
..expandOcular melanocytosis (HP:0025534)help
Term ID: 25534
Name: Ocular melanocytosis
Synonym: Melanosis oculi; Ocular melanosis
Definition: A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.
Comments:
Reference: HP:0025534
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBlue sclerae (HP:0000592) help
..expandDeep episcleral hyperemia (HP:0025340) help
..expandEpiscleritis (HP:0100534) help
..expandLimbal dermoid (HP:0001140) help
..expandPigmentation of the sclera (HP:0007832) help
..expandScleral rupture (HP:0025513) help
..expandScleral schwannoma (HP:0100011) help
..expandScleral staphyloma (HP:0030854) help
..expandScleral thickening (HP:0030823) help
..expandScleritis (HP:0100532) help
..expandSuperficial episcleral hyperemia (HP:0025339) 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:0025534HP:0025534Ocular melanocytosis0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38


Genes (1) :DPAGT1

Diseases (1) :ORPHA:86309
 

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