Human Phenotype Ontology 
Grandparent Node:
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Abnormal chorioretinal morphology (HP:0000532)help
Parent Node:
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Chorioretinal degeneration (HP:0200065)help
..Starting node
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Chorioretinal atrophy (HP:0000533)help
Term ID: 533
Name: Chorioretinal atrophy
Synonym: Chorioretinal thinning
Definition: Atrophy of the choroid and retinal layers of the fundus.
Comments:
Reference: HP:0000533
Genes and Diseases:
 
       Child Nodes:
........expandParavenous chorioretinal atrophy (HP:0007903) help
........expandPeripapillary chorioretinal atrophy (HP:0007950) help
........expandChoriocapillaris atrophy (HP:0030491) help

 Sister Nodes: 
..expandChorioretinal scar (HP:0007777) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000533HP:0000533Chorioretinal atrophy0CHM CL E G H1121303100Choroideremia303100C0008525OMIM12883481940300390
HP:0000533HP:0000533Chorioretinal atrophy0CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM11072982383602225
HP:0000533HP:0000533Chorioretinal atrophy0CYP4V2 CL E G H285440210370Bietti crystalline corneoretinal dystrophy210370C1859486OMIM110535823198608614
HP:0000533HP:0000533Chorioretinal atrophy0FSCN2 CL E G H25794607921Retinitis pigmentosa 30607921C1842816OMIM1151673960607643
HP:0000533HP:0000533Chorioretinal atrophy0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000533HP:0000533Chorioretinal atrophy0OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM1722178091613349
HP:0000533HP:0000533Chorioretinal atrophy0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM198938616167409
HP:0000533HP:0000533Chorioretinal atrophy0PRPH2 CL E G H5961613105Choroidal dystrophy, central areolar 2613105C2751290OMIM11813449942179605
HP:0000533HP:0000533Chorioretinal atrophy0SAG CL E G H6295613758Retinitis pigmentosa 47613758C3151061OMIM11613210521181031
HP:0000533HP:0000533Chorioretinal atrophy0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1244392464118661
HP:0000533HP:0000533Chorioretinal atrophy1CHM CL E G H1121303100Choroideremia303100C0008525OMIM12883481940300390
HP:0000533HP:0000533Chorioretinal atrophy1CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM11072982383602225
HP:0000533HP:0000533Chorioretinal atrophy1CYP4V2 CL E G H285440210370Bietti crystalline corneoretinal dystrophy210370C1859486OMIM110535823198608614
HP:0000533HP:0000533Chorioretinal atrophy1FSCN2 CL E G H25794607921Retinitis pigmentosa 30607921C1842816OMIM1151673960607643
HP:0000533HP:0000533Chorioretinal atrophy1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000533HP:0000533Chorioretinal atrophy1OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM1722178091613349
HP:0000533HP:0000533Chorioretinal atrophy1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM198938616167409
HP:0000533HP:0000533Chorioretinal atrophy1PRPH2 CL E G H5961613105Choroidal dystrophy, central areolar 2613105C2751290OMIM11813449942179605
HP:0000533HP:0000533Chorioretinal atrophy1SAG CL E G H6295613758Retinitis pigmentosa 47613758C3151061OMIM11613210521181031
HP:0000533HP:0000533Chorioretinal atrophy1VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1244392464118661
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000533HP:0000533Chorioretinal atrophy0EYS CL E G H346007602772Retinitis pigmentosa 25602772C1864446OMIM0338106421555612424
HP:0000533HP:0000533Chorioretinal atrophy0HADHA CL E G H30305ORPHA0713024801600890
HP:0000533HP:0000533Chorioretinal atrophy0PRPH2 CL E G H5961608133Retinitis pigmentosa 7608133C1842475OMIM01813449942179605
HP:0000533HP:0000533Chorioretinal atrophy0ROM1 CL E G H6094608133Retinitis pigmentosa 7608133C1842475OMIM01811310254180721
HP:0000533HP:0000533Chorioretinal atrophy0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM03820810985603861
HP:0000533HP:0000533Chorioretinal atrophy0ZNF408 CL E G H79797616468Exudative vitreoretinopathy 6616468C4225316OMIM01411220041616454
HP:0000533HP:0000533Chorioretinal atrophy1EYS CL E G H346007602772Retinitis pigmentosa 25602772C1864446OMIM0338106421555612424
HP:0000533HP:0000533Chorioretinal atrophy1HADHA CL E G H30305ORPHA0713024801600890
HP:0000533HP:0000533Chorioretinal atrophy1PRPH2 CL E G H5961608133Retinitis pigmentosa 7608133C1842475OMIM01813449942179605
HP:0000533HP:0000533Chorioretinal atrophy1ROM1 CL E G H6094608133Retinitis pigmentosa 7608133C1842475OMIM01811310254180721
HP:0000533HP:0000533Chorioretinal atrophy1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM03820810985603861
HP:0000533HP:0000533Chorioretinal atrophy1ZNF408 CL E G H79797616468Exudative vitreoretinopathy 6616468C4225316OMIM01411220041616454


Genes (20) :ACVRL1 CHM CRB1 CRX CYP4V2 EYS FSCN2 GUCY2D HADHA JAG1 NRL OAT PAX2 PRPH2 ROM1 SAG SLC25A15 TEAD1 VCAN ZNF408

Diseases (20) :303100 120970 210370 602772 607921 5 118450 258870 120330 613105 608133 613758 238970 143200 616468 600376 172870 215500 613750 108985
 

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