Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormal fundus morphology (HP:0001098)help
Parent Node:
expand
Abnormal uvea morphology (HP:0000553)help
..Starting node
..expand
Abnormal choroid morphology (HP:0000610)help
Term ID: 610
Name: Abnormal choroid morphology
Synonym: Abnormality of the choroid; Choroid disease
Definition: Any structural abnormality of the choroid.
Comments:
Reference: HP:0000610
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal chorioretinal morphology (HP:0000532) help
................... HP:0000567 Chorioretinal coloboma
................... HP:0001135 Chorioretinal dystrophy
................... HP:0007661 Abnormality of chorioretinal pigmentation
................... HP:0007731 Chorioretinal dysplasia
................... HP:0007858 Chorioretinal lacunae
................... HP:0012424 Chorioretinitis
................... HP:0025567 Central serous chorioretinopathy
................... HP:0200065 Chorioretinal degeneration
........expandChoroideremia (HP:0001139) help
........expandDark choroid (HP:0025148) help
........expandChoroidal nevus (HP:0025314) help
........expandAbnormal morphology of the choroidal vasculature (HP:0025568) help
................... HP:0007872 Choroidal hemangioma
................... HP:0011506 Choroidal neovascularization
................... HP:0025569 Polypoidal choroidal vasculopathy
................... HP:0025570 Choroidal vascular hyperpermeability
................... HP:0030979 Dilatation of large choroidal vessels
........expandBirdshot choroidal lesions (HP:0030952) help

 Sister Nodes: 
..expandAbnormal ciliary body morphology (HP:0012776) help
..expandAbnormality iris morphology (HP:0000525) help
..expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
..expandUveitis (HP:0000554) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000610HP:0000610Abnormal choroid morphology0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0000610Abnormal choroid morphology0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0000610Abnormal choroid morphology0CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0000610Abnormal choroid morphology0CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0000610Abnormal choroid morphology0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0000610Abnormal choroid morphology0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0000610Abnormal choroid morphology0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0000610Abnormal choroid morphology0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0000610Abnormal choroid morphology0MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0000610Abnormal choroid morphology0MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0000610Abnormal choroid morphology0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0000610Abnormal choroid morphology0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0000610Abnormal choroid morphology0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0000610Abnormal choroid morphology0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0000610Abnormal choroid morphology0PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0000610Abnormal choroid morphology0PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0000610Abnormal choroid morphology0TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0000532Abnormal chorioretinal morphology1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0025148Dark choroid1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0025314Choroidal nevus1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0000532Abnormal chorioretinal morphology1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0025148Dark choroid1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0025314Choroidal nevus1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0001139Choroideremia1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0030952Birdshot choroidal lesions1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0030952Birdshot choroidal lesions1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0001139Choroideremia1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0030952Birdshot choroidal lesions1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0001139Choroideremia1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0030952Birdshot choroidal lesions1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0001139Choroideremia1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0025314Choroidal nevus1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0000532Abnormal chorioretinal morphology1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0025148Dark choroid1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0025314Choroidal nevus1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0000532Abnormal chorioretinal morphology1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0025148Dark choroid1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0030952Birdshot choroidal lesions1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0001139Choroideremia1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0030952Birdshot choroidal lesions1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0001139Choroideremia1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0025314Choroidal nevus1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0000532Abnormal chorioretinal morphology1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0025148Dark choroid1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0025314Choroidal nevus1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0000532Abnormal chorioretinal morphology1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0025148Dark choroid1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0025314Choroidal nevus1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0000532Abnormal chorioretinal morphology1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0025148Dark choroid1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0025314Choroidal nevus1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0000532Abnormal chorioretinal morphology1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0025148Dark choroid1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0030952Birdshot choroidal lesions1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0001139Choroideremia1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0030952Birdshot choroidal lesions1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0001139Choroideremia1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0000532Abnormal chorioretinal morphology1MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0025148Dark choroid1MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0025314Choroidal nevus1MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0000532Abnormal chorioretinal morphology1MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0025148Dark choroid1MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0025314Choroidal nevus1MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0001139Choroideremia1MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0030952Birdshot choroidal lesions1MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0030952Birdshot choroidal lesions1MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0001139Choroideremia1MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0001139Choroideremia1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0030952Birdshot choroidal lesions1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0030952Birdshot choroidal lesions1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0001139Choroideremia1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0000532Abnormal chorioretinal morphology1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0025148Dark choroid1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0025314Choroidal nevus1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0000532Abnormal chorioretinal morphology1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0025148Dark choroid1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0025314Choroidal nevus1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0025314Choroidal nevus1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0000532Abnormal chorioretinal morphology1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0025148Dark choroid1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0025314Choroidal nevus1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0000532Abnormal chorioretinal morphology1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0025148Dark choroid1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0030952Birdshot choroidal lesions1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0001139Choroideremia1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0030952Birdshot choroidal lesions1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0001139Choroideremia1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0030952Birdshot choroidal lesions1PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0001139Choroideremia1PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0030952Birdshot choroidal lesions1PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0001139Choroideremia1PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0025314Choroidal nevus1PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0000532Abnormal chorioretinal morphology1PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0025148Dark choroid1PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0025314Choroidal nevus1PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0000532Abnormal chorioretinal morphology1PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0025148Dark choroid1PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0025314Choroidal nevus1TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0030952Birdshot choroidal lesions1TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0025148Dark choroid1TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0000532Abnormal chorioretinal morphology1TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0001139Choroideremia1TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0011506Choroidal neovascularization2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0025570Choroidal vascular hyperpermeability2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0025567Central serous chorioretinopathy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0001135Chorioretinal dystrophy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0012424Chorioretinitis2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0011506Choroidal neovascularization2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0025570Choroidal vascular hyperpermeability2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0025567Central serous chorioretinopathy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0001135Chorioretinal dystrophy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0012424Chorioretinitis2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0007872Choroidal hemangioma2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0007731Chorioretinal dysplasia2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0030979Dilatation of large choroidal vessels2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0000567Chorioretinal coloboma2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0007858Chorioretinal lacunae2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0200065Chorioretinal degeneration2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0007731Chorioretinal dysplasia2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0030979Dilatation of large choroidal vessels2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0000567Chorioretinal coloboma2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0007858Chorioretinal lacunae2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0200065Chorioretinal degeneration2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0007872Choroidal hemangioma2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0007731Chorioretinal dysplasia2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0030979Dilatation of large choroidal vessels2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0000567Chorioretinal coloboma2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0007858Chorioretinal lacunae2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0200065Chorioretinal degeneration2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0007872Choroidal hemangioma2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0007731Chorioretinal dysplasia2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0030979Dilatation of large choroidal vessels2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0000567Chorioretinal coloboma2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0007858Chorioretinal lacunae2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0200065Chorioretinal degeneration2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0007872Choroidal hemangioma2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0025570Choroidal vascular hyperpermeability2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0025567Central serous chorioretinopathy2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0001135Chorioretinal dystrophy2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0012424Chorioretinitis2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0011506Choroidal neovascularization2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0025570Choroidal vascular hyperpermeability2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0025567Central serous chorioretinopathy2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0001135Chorioretinal dystrophy2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0012424Chorioretinitis2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0011506Choroidal neovascularization2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0000567Chorioretinal coloboma2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0007858Chorioretinal lacunae2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0200065Chorioretinal degeneration2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0007872Choroidal hemangioma2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0007731Chorioretinal dysplasia2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0030979Dilatation of large choroidal vessels2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0007858Chorioretinal lacunae2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0200065Chorioretinal degeneration2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0007872Choroidal hemangioma2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0007731Chorioretinal dysplasia2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0030979Dilatation of large choroidal vessels2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0000567Chorioretinal coloboma2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0012424Chorioretinitis2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0011506Choroidal neovascularization2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0025570Choroidal vascular hyperpermeability2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0025567Central serous chorioretinopathy2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0001135Chorioretinal dystrophy2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0012424Chorioretinitis2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0011506Choroidal neovascularization2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0025570Choroidal vascular hyperpermeability2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0025567Central serous chorioretinopathy2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0001135Chorioretinal dystrophy2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0025570Choroidal vascular hyperpermeability2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0025567Central serous chorioretinopathy2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0001135Chorioretinal dystrophy2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0012424Chorioretinitis2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0011506Choroidal neovascularization2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0025570Choroidal vascular hyperpermeability2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0025567Central serous chorioretinopathy2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0001135Chorioretinal dystrophy2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0012424Chorioretinitis2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0011506Choroidal neovascularization2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0007731Chorioretinal dysplasia2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0030979Dilatation of large choroidal vessels2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0000567Chorioretinal coloboma2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0007858Chorioretinal lacunae2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0200065Chorioretinal degeneration2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0007872Choroidal hemangioma2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0007731Chorioretinal dysplasia2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0030979Dilatation of large choroidal vessels2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0000567Chorioretinal coloboma2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0007858Chorioretinal lacunae2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0200065Chorioretinal degeneration2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0007872Choroidal hemangioma2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0025567Central serous chorioretinopathy2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0001135Chorioretinal dystrophy2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0012424Chorioretinitis2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0011506Choroidal neovascularization2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0025570Choroidal vascular hyperpermeability2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0011506Choroidal neovascularization2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0025567Central serous chorioretinopathy2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0001135Chorioretinal dystrophy2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0012424Chorioretinitis2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0025570Choroidal vascular hyperpermeability2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0007872Choroidal hemangioma2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0007731Chorioretinal dysplasia2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0000567Chorioretinal coloboma2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0007858Chorioretinal lacunae2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0200065Chorioretinal degeneration2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0030979Dilatation of large choroidal vessels2MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0007731Chorioretinal dysplasia2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0000567Chorioretinal coloboma2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0007858Chorioretinal lacunae2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0200065Chorioretinal degeneration2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0007872Choroidal hemangioma2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0030979Dilatation of large choroidal vessels2MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0007872Choroidal hemangioma2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0007731Chorioretinal dysplasia2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0030979Dilatation of large choroidal vessels2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0000567Chorioretinal coloboma2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0007858Chorioretinal lacunae2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0200065Chorioretinal degeneration2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0007731Chorioretinal dysplasia2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0030979Dilatation of large choroidal vessels2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0000567Chorioretinal coloboma2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0007858Chorioretinal lacunae2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0200065Chorioretinal degeneration2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0007872Choroidal hemangioma2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0011506Choroidal neovascularization2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0025570Choroidal vascular hyperpermeability2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0025567Central serous chorioretinopathy2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0001135Chorioretinal dystrophy2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0012424Chorioretinitis2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0011506Choroidal neovascularization2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0025570Choroidal vascular hyperpermeability2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0025567Central serous chorioretinopathy2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0001135Chorioretinal dystrophy2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0012424Chorioretinitis2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0012424Chorioretinitis2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0011506Choroidal neovascularization2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0025570Choroidal vascular hyperpermeability2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0025567Central serous chorioretinopathy2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0001135Chorioretinal dystrophy2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0012424Chorioretinitis2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0011506Choroidal neovascularization2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0025570Choroidal vascular hyperpermeability2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0025567Central serous chorioretinopathy2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0001135Chorioretinal dystrophy2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0000567Chorioretinal coloboma2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0007858Chorioretinal lacunae2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0200065Chorioretinal degeneration2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0007872Choroidal hemangioma2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0007731Chorioretinal dysplasia2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0030979Dilatation of large choroidal vessels2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0007858Chorioretinal lacunae2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0200065Chorioretinal degeneration2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0007872Choroidal hemangioma2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0007731Chorioretinal dysplasia2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0030979Dilatation of large choroidal vessels2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0000567Chorioretinal coloboma2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0000567Chorioretinal coloboma2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0007858Chorioretinal lacunae2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0200065Chorioretinal degeneration2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0007872Choroidal hemangioma2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0007731Chorioretinal dysplasia2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0030979Dilatation of large choroidal vessels2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0007858Chorioretinal lacunae2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0200065Chorioretinal degeneration2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0007872Choroidal hemangioma2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0007731Chorioretinal dysplasia2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0030979Dilatation of large choroidal vessels2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0000567Chorioretinal coloboma2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0012424Chorioretinitis2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0011506Choroidal neovascularization2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0025570Choroidal vascular hyperpermeability2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0025567Central serous chorioretinopathy2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0001135Chorioretinal dystrophy2PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0012424Chorioretinitis2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0011506Choroidal neovascularization2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0025570Choroidal vascular hyperpermeability2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0025567Central serous chorioretinopathy2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0001135Chorioretinal dystrophy2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0001135Chorioretinal dystrophy2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0011506Choroidal neovascularization2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0025570Choroidal vascular hyperpermeability2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0007731Chorioretinal dysplasia2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0000567Chorioretinal coloboma2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0012424Chorioretinitis2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0025567Central serous chorioretinopathy2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0200065Chorioretinal degeneration2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0007858Chorioretinal lacunae2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0007872Choroidal hemangioma2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0030979Dilatation of large choroidal vessels2TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0000533Chorioretinal atrophy3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0040031Chorioretinal hyperpigmentation3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0007777Chorioretinal scar3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0031613Inferior chorioretinal coloboma3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0040031Chorioretinal hyperpigmentation3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0007777Chorioretinal scar3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0031613Inferior chorioretinal coloboma3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0000533Chorioretinal atrophy3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0031241Subfoveal choroidal neovascularization3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0040030Chorioretinal hypopigmentation3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0031241Subfoveal choroidal neovascularization3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0040030Chorioretinal hypopigmentation3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0031241Subfoveal choroidal neovascularization3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0040030Chorioretinal hypopigmentation3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0031241Subfoveal choroidal neovascularization3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0040030Chorioretinal hypopigmentation3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0040031Chorioretinal hyperpigmentation3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0007777Chorioretinal scar3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0031613Inferior chorioretinal coloboma3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0000533Chorioretinal atrophy3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0007777Chorioretinal scar3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0031613Inferior chorioretinal coloboma3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0000533Chorioretinal atrophy3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0040031Chorioretinal hyperpigmentation3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0031241Subfoveal choroidal neovascularization3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0040030Chorioretinal hypopigmentation3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0031241Subfoveal choroidal neovascularization3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0040030Chorioretinal hypopigmentation3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0031613Inferior chorioretinal coloboma3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0000533Chorioretinal atrophy3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0040031Chorioretinal hyperpigmentation3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0007777Chorioretinal scar3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0031613Inferior chorioretinal coloboma3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0000533Chorioretinal atrophy3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0040031Chorioretinal hyperpigmentation3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0007777Chorioretinal scar3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0040031Chorioretinal hyperpigmentation3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0007777Chorioretinal scar3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0031613Inferior chorioretinal coloboma3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0000533Chorioretinal atrophy3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0007777Chorioretinal scar3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0031613Inferior chorioretinal coloboma3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0000533Chorioretinal atrophy3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0040031Chorioretinal hyperpigmentation3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0031241Subfoveal choroidal neovascularization3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0040030Chorioretinal hypopigmentation3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0031241Subfoveal choroidal neovascularization3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0040030Chorioretinal hypopigmentation3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0040031Chorioretinal hyperpigmentation3MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0007777Chorioretinal scar3MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0031613Inferior chorioretinal coloboma3MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0000533Chorioretinal atrophy3MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0040031Chorioretinal hyperpigmentation3MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0007777Chorioretinal scar3MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0031613Inferior chorioretinal coloboma3MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0000533Chorioretinal atrophy3MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0040030Chorioretinal hypopigmentation3MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0031241Subfoveal choroidal neovascularization3MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0040030Chorioretinal hypopigmentation3MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0031241Subfoveal choroidal neovascularization3MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0031241Subfoveal choroidal neovascularization3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0040030Chorioretinal hypopigmentation3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0031241Subfoveal choroidal neovascularization3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0040030Chorioretinal hypopigmentation3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0040031Chorioretinal hyperpigmentation3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0007777Chorioretinal scar3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0031613Inferior chorioretinal coloboma3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0000533Chorioretinal atrophy3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0040031Chorioretinal hyperpigmentation3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0007777Chorioretinal scar3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0031613Inferior chorioretinal coloboma3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0000533Chorioretinal atrophy3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0031613Inferior chorioretinal coloboma3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0000533Chorioretinal atrophy3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0040031Chorioretinal hyperpigmentation3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0007777Chorioretinal scar3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0031613Inferior chorioretinal coloboma3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0000533Chorioretinal atrophy3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0040031Chorioretinal hyperpigmentation3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0007777Chorioretinal scar3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0031241Subfoveal choroidal neovascularization3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0040030Chorioretinal hypopigmentation3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0031241Subfoveal choroidal neovascularization3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0040030Chorioretinal hypopigmentation3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0031241Subfoveal choroidal neovascularization3PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0040030Chorioretinal hypopigmentation3PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0031241Subfoveal choroidal neovascularization3PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0040030Chorioretinal hypopigmentation3PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0031613Inferior chorioretinal coloboma3PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0000533Chorioretinal atrophy3PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0040031Chorioretinal hyperpigmentation3PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0007777Chorioretinal scar3PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0031613Inferior chorioretinal coloboma3PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0000533Chorioretinal atrophy3PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0040031Chorioretinal hyperpigmentation3PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0007777Chorioretinal scar3PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0031613Inferior chorioretinal coloboma3TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0040031Chorioretinal hyperpigmentation3TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0031241Subfoveal choroidal neovascularization3TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0000533Chorioretinal atrophy3TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0007777Chorioretinal scar3TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0040030Chorioretinal hypopigmentation3TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0007903Paravenous chorioretinal atrophy4ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0007903Paravenous chorioretinal atrophy4ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0030491Choriocapillaris atrophy4ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000610HP:0030491Choriocapillaris atrophy4ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0030491Choriocapillaris atrophy4CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0030491Choriocapillaris atrophy4CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0007903Paravenous chorioretinal atrophy4CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0000610HP:0007903Paravenous chorioretinal atrophy4CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0000610HP:0030491Choriocapillaris atrophy4CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0030491Choriocapillaris atrophy4CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0007903Paravenous chorioretinal atrophy4CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000610HP:0007903Paravenous chorioretinal atrophy4CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000610HP:0007903Paravenous chorioretinal atrophy4ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0007903Paravenous chorioretinal atrophy4ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0030491Choriocapillaris atrophy4ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000610HP:0030491Choriocapillaris atrophy4ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000610HP:0007903Paravenous chorioretinal atrophy4MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0007903Paravenous chorioretinal atrophy4MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0030491Choriocapillaris atrophy4MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4MFRP CL E G H8355235612ORPHA152618121606227
HP:0000610HP:0030491Choriocapillaris atrophy4MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4MFRP CL E G H8355235612ORPHA141818121606227
HP:0000610HP:0030491Choriocapillaris atrophy4PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0030491Choriocapillaris atrophy4PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0007903Paravenous chorioretinal atrophy4PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000610HP:0007903Paravenous chorioretinal atrophy4PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000610HP:0007903Paravenous chorioretinal atrophy4PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0007903Paravenous chorioretinal atrophy4PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0030491Choriocapillaris atrophy4PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000610HP:0030491Choriocapillaris atrophy4PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000610HP:0030491Choriocapillaris atrophy4PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0030491Choriocapillaris atrophy4PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0007903Paravenous chorioretinal atrophy4PRSS56 CL E G H64696035612ORPHA111039433613858
HP:0000610HP:0007903Paravenous chorioretinal atrophy4PRSS56 CL E G H64696035612ORPHA19639433613858
HP:0000610HP:0007903Paravenous chorioretinal atrophy4TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0030491Choriocapillaris atrophy4TMEM98 CL E G H2602235612ORPHA11524529615949
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4TMEM98 CL E G H2602235612ORPHA11524529615949
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000610HP:0000610Abnormal choroid morphology0GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0000610Abnormal choroid morphology0GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0000610Abnormal choroid morphology0NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0000610Abnormal choroid morphology0NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0030952Birdshot choroidal lesions1GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0001139Choroideremia1GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0030952Birdshot choroidal lesions1GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0001139Choroideremia1GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0025314Choroidal nevus1GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0000532Abnormal chorioretinal morphology1GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0025148Dark choroid1GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0025314Choroidal nevus1GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0000532Abnormal chorioretinal morphology1GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0025148Dark choroid1GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0030952Birdshot choroidal lesions1NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0001139Choroideremia1NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0025314Choroidal nevus1NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0000532Abnormal chorioretinal morphology1NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0025148Dark choroid1NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0025314Choroidal nevus1NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0000532Abnormal chorioretinal morphology1NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0025148Dark choroid1NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0030952Birdshot choroidal lesions1NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0025568Abnormal morphology of the choroidal vasculature1NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0001139Choroideremia1NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0007731Chorioretinal dysplasia2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0030979Dilatation of large choroidal vessels2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0000567Chorioretinal coloboma2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0007858Chorioretinal lacunae2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0200065Chorioretinal degeneration2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0007872Choroidal hemangioma2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0007731Chorioretinal dysplasia2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0030979Dilatation of large choroidal vessels2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0000567Chorioretinal coloboma2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0007858Chorioretinal lacunae2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0200065Chorioretinal degeneration2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0007872Choroidal hemangioma2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0025570Choroidal vascular hyperpermeability2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0025567Central serous chorioretinopathy2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0001135Chorioretinal dystrophy2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0012424Chorioretinitis2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0011506Choroidal neovascularization2GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0025570Choroidal vascular hyperpermeability2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0025567Central serous chorioretinopathy2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0001135Chorioretinal dystrophy2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0012424Chorioretinitis2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0011506Choroidal neovascularization2GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0007858Chorioretinal lacunae2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0200065Chorioretinal degeneration2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0007872Choroidal hemangioma2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0007731Chorioretinal dysplasia2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0030979Dilatation of large choroidal vessels2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0000567Chorioretinal coloboma2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0012424Chorioretinitis2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0011506Choroidal neovascularization2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0025570Choroidal vascular hyperpermeability2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0025567Central serous chorioretinopathy2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0001135Chorioretinal dystrophy2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0012424Chorioretinitis2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0011506Choroidal neovascularization2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0025570Choroidal vascular hyperpermeability2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0025567Central serous chorioretinopathy2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0001135Chorioretinal dystrophy2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0025569Polypoidal choroidal vasculopathy2NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0000567Chorioretinal coloboma2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0007858Chorioretinal lacunae2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0200065Chorioretinal degeneration2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0007872Choroidal hemangioma2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0007661Abnormality of chorioretinal pigmentation2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0007731Chorioretinal dysplasia2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0030979Dilatation of large choroidal vessels2NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0031241Subfoveal choroidal neovascularization3GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0040030Chorioretinal hypopigmentation3GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0031241Subfoveal choroidal neovascularization3GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0040030Chorioretinal hypopigmentation3GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0040031Chorioretinal hyperpigmentation3GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0007777Chorioretinal scar3GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0031613Inferior chorioretinal coloboma3GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0000533Chorioretinal atrophy3GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0007777Chorioretinal scar3GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0031613Inferior chorioretinal coloboma3GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0000533Chorioretinal atrophy3GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0040031Chorioretinal hyperpigmentation3GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0031241Subfoveal choroidal neovascularization3NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0040030Chorioretinal hypopigmentation3NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0031613Inferior chorioretinal coloboma3NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0000533Chorioretinal atrophy3NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0040031Chorioretinal hyperpigmentation3NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0007777Chorioretinal scar3NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0031613Inferior chorioretinal coloboma3NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0000533Chorioretinal atrophy3NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0031240Juxtafoveal choroidal neovascularization3NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0040031Chorioretinal hyperpigmentation3NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0007777Chorioretinal scar3NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0031239Extrafoveal choroidal neovascularization3NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0031241Subfoveal choroidal neovascularization3NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0040030Chorioretinal hypopigmentation3NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0030491Choriocapillaris atrophy4GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0030491Choriocapillaris atrophy4GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0007903Paravenous chorioretinal atrophy4GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000610HP:0007903Paravenous chorioretinal atrophy4GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000610HP:0030491Choriocapillaris atrophy4NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0007903Paravenous chorioretinal atrophy4NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0007903Paravenous chorioretinal atrophy4NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000610HP:0030491Choriocapillaris atrophy4NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000610HP:0007950Peripapillary chorioretinal atrophy4NOD2 CL E G H6412790340ORPHA06535331605956


Genes (142) :ABCA4 ABCC6 ACTB ACVRL1 ADAMTS18 AGXT AKT1 ALMS1 B3GALNT2 B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 C12ORF57 CASK CC2D2A CCDC22 CCM2 CEP290 CEP55 CHD7 CHM CHN1 CLCN2 CLCNKB CLDN19 CNGB3 COL25A1 COL4A1 COX7B CRB1 CREBBP CRPPA CRX CSPP1 CYP4V2 DACT1 DAG1 DPP6 ELOVL4 EP300 EPHA2 EYS FBLN5 FBN2 FKRP FKTN FSCN2 GDF3 GNAQ GUCY2D GZF1 HADHA HCCS HHAT HLA-A IKBKG IMPG1 IMPG2 INPP5E JAG1 KIF11 KRIT1 LARGE1 MAFB MAPKAPK3 MFRP MKS1 NAA10 NDP NDUFB11 NOD2 NRL OAT OCRL PAX2 PAX6 PDCD10 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU3F4 PROM1 PRPH2 PRSS56 PTEN RBP4 RNF216 ROM1 RP2 RPGRIP1 RPGRIP1L RXYLT1 SAG SALL1 SALL4 SEMA3E SHH SIX6 SLC25A15 TBX22 TCTN2 TEAD1 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TRNE TRNK TRNL1 TUBGCP4 TUBGCP6 UBE3B VCAN VPS13B WASHC5 WDPCP YAP1 ZNF408 ZNF423

Diseases (96) :827 607364 3205 35612 90340 64 564 1243 99000 303100 615651 116600 179 464 649 912 1435 169150 225 2707 264800 243310 615458 259900 744 899 568 309800 193220 139471 1777 218340 163937 2318 1454 7 221061 138 233 2196 2556 180849 857 616311 608895 616118 613702 185300 617662 1422 213300 2526 152950 617111 534 137902 120200 1180 215470 2092 305600 608161 616428 212840 312600 107480 959 611638 212550 921 608091 610688 616335 251270 193 216550 1473 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 August 2021 release.