Human Phenotype Ontology 
Grandparent Node:
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Abnormal fundus morphology (HP:0001098)help
Grandparent Node:
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Abnormal uvea morphology (HP:0000553)help
Parent Node:
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Abnormal choroid morphology (HP:0000610)help
..Starting node
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Choroideremia (HP:0001139)help
Term ID: 1139
Name: Choroideremia
Synonym:
Definition:
Comments:
Reference: HP:0001139
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal chorioretinal morphology (HP:0000532) help
..expandAbnormal morphology of the choroidal vasculature (HP:0025568) help
..expandBirdshot retinochoroidopathy (HP:0030952) help
..expandChoroidal nevus (HP:0025314) help
..expandDark choroid (HP:0025148) 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:0001139HP:0001139Choroideremia0BEST1 CL E G H743912703ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent182
HP:0001139HP:0001139Choroideremia0BEST1 CL E G H743912703ORPHA:1243Best vitelliform macular dystrophyHP:0040283 - Occasional182
HP:0001139HP:0001139Choroideremia0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA.47
HP:0001139HP:0001139Choroideremia0EPHA2 CL E G H19693386OMIM:116600Cataract, posterior polar, 1 ctpa cataract, congenital total, included.87
HP:0001139HP:0001139Choroideremia0IMPG1 CL E G H36176055ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent4
HP:0001139HP:0001139Choroideremia0IMPG2 CL E G H5093918362ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent120
HP:0001139HP:0001139Choroideremia0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040281 - Very frequent40
HP:0001139HP:0001139Choroideremia0PRPH2 CL E G H59619942ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent159
HP:0001139HP:0001139Choroideremia0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040283 - Occasional13


Genes (8) :BEST1 CHM EPHA2 IMPG1 IMPG2 POU3F4 PRPH2 UBE3B

Diseases (6) :ORPHA:99000 ORPHA:1243 OMIM:303100 OMIM:116600 ORPHA:1435 ORPHA:2707
 

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