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 choroidal lesions (HP:0030952) help
..expandChoroidal nevus (HP:0025314) help
..expandDark choroid (HP:0025148) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001139HP:0001139Choroideremia0BEST1 CL E G H743999000ORPHA131935412703607854
HP:0001139HP:0001139Choroideremia0CHM CL E G H1121303100Choroideremia303100C0008525OMIM12883481940300390
HP:0001139HP:0001139Choroideremia0EPHA2 CL E G H1969116600Cataract 6, multiple types116600C1861825OMIM1221713386176946
HP:0001139HP:0001139Choroideremia0IMPG1 CL E G H361799000ORPHA1111106055602870
HP:0001139HP:0001139Choroideremia0IMPG2 CL E G H5093999000ORPHA14234618362607056
HP:0001139HP:0001139Choroideremia0POU3F4 CL E G H54561435Coloboma of lens ala nasiORPHA1842119217300039
HP:0001139HP:0001139Choroideremia0PRPH2 CL E G H596199000ORPHA11813449942179605
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001139HP:0001139Choroideremia0BEST1 CL E G H74391243ORPHA031935412703607854
HP:0001139HP:0001139Choroideremia0UBE3B CL E G H899102707ORPHA0255413478608047


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

Diseases (6) :1243 99000 303100 116600 1435 2707
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.