Human Phenotype Ontology 
Grandparent Node:
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Abnormal macular morphology (HP:0001103)help
Parent Node:
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Abnormality of macular pigmentation (HP:0008002)help
..Starting node
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Bull's eye maculopathy (HP:0011504)help
Term ID: 11504
Name: Bull's eye maculopathy
Synonym: Chloroquine retinopathy
Definition: Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
Comments:
Reference: HP:0011504
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of foveal pigmentation (HP:0030493) help
..expandBeaten bronze macular sheen (HP:0025147) help
..expandGranular macular appearance (HP:0007793) help
..expandMacular hyperpigmentation (HP:0011509) help
..expandMacular hypopigmentation (HP:0007988) 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:0011504HP:0011504Bull's eye maculopathy0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0011504HP:0011504Bull's eye maculopathy0ABCA4 CL E G H2434OMIM:248200Stargardt disease 1826
HP:0011504HP:0011504Bull's eye maculopathy0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0011504HP:0011504Bull's eye maculopathy0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 1052
HP:0011504HP:0011504Bull's eye maculopathy0MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 6253
HP:0011504HP:0011504Bull's eye maculopathy0MFSD8 CL E G H25647128486OMIM:616170Macular dystrophy with central cone involvementHP:0040283 - Occasional120
HP:0011504HP:0011504Bull's eye maculopathy0PROM1 CL E G H88429454OMIM:612657CONE-ROD DYSTROPHY 12; CORD12110
HP:0011504HP:0011504Bull's eye maculopathy0RAX2 CL E G H8483918286OMIM:610381Cone-Rod dystrophy 11.52
HP:0011504HP:0011504Bull's eye maculopathy0RIMS1 CL E G H2299917282OMIM:603649CONE-ROD DYSTROPHY 7; CORD7102
HP:0011504HP:0011504Bull's eye maculopathy0RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0011504HP:0011504Bull's eye maculopathy0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0011504HP:0011504Bull's eye maculopathy0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0011504HP:0011504Bull's eye maculopathy0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546


Genes (12) :ABCA4 CLN3 IMPDH1 MAK MFSD8 PROM1 RAX2 RIMS1 RP2 TLCD3B TMCO1 VPS13B

Diseases (13) :OMIM:604116 OMIM:248200 ORPHA:228346 OMIM:180105 OMIM:614181 OMIM:616170 OMIM:612657 OMIM:610381 OMIM:603649 OMIM:312600 OMIM:619531 OMIM:213980 OMIM:216550
 

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