Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of retinal pigmentation (HP:0007703)help
Parent Node:
expandPigmentary retinopathy (HP:0000580)help
..Starting node
..expandNummular pigmentation of the fundus (HP:0030505)help
Term ID: 30505
Name: Nummular pigmentation of the fundus
Synonym: Nummular pigmentation of the retina
Definition: Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.
Comments:
Reference: HP:0030505
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBone spicule pigmentation of the retina (HP:0007737) 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:0030505HP:0030505Nummular pigmentation of the fundus0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0030505HP:0030505Nummular pigmentation of the fundus0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0030505HP:0030505Nummular pigmentation of the fundus0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0030505HP:0030505Nummular pigmentation of the fundus0RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129


Genes (4) :CHM CRB1 KIAA1549 RPE65

Diseases (4) :OMIM:303100 OMIM:613835 OMIM:618613 OMIM:618697
 

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