Human Phenotype Ontology 
Grandparent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
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Abnormal fundus morphology (HP:0001098)help
Parent Node:
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Abnormal uvea morphology (HP:0000553)help
..Starting node
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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 diseaseC0271093ORPHA11280151134601691
HP:0000610HP:0000610Abnormal choroid morphology0CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM11521662027602023
HP:0000610HP:0000610Abnormal choroid morphology0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11264102153605080
HP:0000610HP:0000610Abnormal choroid morphology0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11712214415605512
HP:0000610HP:0000610Abnormal choroid morphology0MFRP CL E G H8355235612ORPHA13125918121606227
HP:0000610HP:0000610Abnormal choroid morphology0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1833409454604365
HP:0000610HP:0000610Abnormal choroid morphology0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11813449942179605
HP:0000610HP:0000610Abnormal choroid morphology0PRSS56 CL E G H64696035612ORPHA1245839433613858
HP:0000610HP:0000610Abnormal choroid morphology0TMEM98 CL E G H2602235612ORPHA161524529615949
HP:0000610HP:0000610Abnormal choroid morphology1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA11280151134601691
HP:0000610HP:0000610Abnormal choroid morphology1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM11521662027602023
HP:0000610HP:0000610Abnormal choroid morphology1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11264102153605080
HP:0000610HP:0000610Abnormal choroid morphology1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11712214415605512
HP:0000610HP:0000610Abnormal choroid morphology1MFRP CL E G H8355235612ORPHA13125918121606227
HP:0000610HP:0000610Abnormal choroid morphology1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1833409454604365
HP:0000610HP:0000610Abnormal choroid morphology1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11813449942179605
HP:0000610HP:0000610Abnormal choroid morphology1PRSS56 CL E G H64696035612ORPHA1245839433613858
HP:0000610HP:0000610Abnormal choroid morphology1TMEM98 CL E G H2602235612ORPHA161524529615949
HP:0000610HP:0000610Abnormal choroid morphology2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA11280151134601691
HP:0000610HP:0000610Abnormal choroid morphology2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM11521662027602023
HP:0000610HP:0000610Abnormal choroid morphology2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11264102153605080
HP:0000610HP:0000610Abnormal choroid morphology2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11712214415605512
HP:0000610HP:0000610Abnormal choroid morphology2MFRP CL E G H8355235612ORPHA13125918121606227
HP:0000610HP:0000610Abnormal choroid morphology2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1833409454604365
HP:0000610HP:0000610Abnormal choroid morphology2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11813449942179605
HP:0000610HP:0000610Abnormal choroid morphology2PRSS56 CL E G H64696035612ORPHA1245839433613858
HP:0000610HP:0000610Abnormal choroid morphology2TMEM98 CL E G H2602235612ORPHA161524529615949
HP:0000610HP:0000610Abnormal choroid morphology3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA11280151134601691
HP:0000610HP:0000610Abnormal choroid morphology3CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM11521662027602023
HP:0000610HP:0000610Abnormal choroid morphology3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11264102153605080
HP:0000610HP:0000610Abnormal choroid morphology3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11712214415605512
HP:0000610HP:0000610Abnormal choroid morphology3MFRP CL E G H8355235612ORPHA13125918121606227
HP:0000610HP:0000610Abnormal choroid morphology3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1833409454604365
HP:0000610HP:0000610Abnormal choroid morphology3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11813449942179605
HP:0000610HP:0000610Abnormal choroid morphology3PRSS56 CL E G H64696035612ORPHA1245839433613858
HP:0000610HP:0000610Abnormal choroid morphology3TMEM98 CL E G H2602235612ORPHA161524529615949
HP:0000610HP:0000610Abnormal choroid morphology4ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA11280151134601691
HP:0000610HP:0000610Abnormal choroid morphology4CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM11521662027602023
HP:0000610HP:0000610Abnormal choroid morphology4CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11264102153605080
HP:0000610HP:0000610Abnormal choroid morphology4ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11712214415605512
HP:0000610HP:0000610Abnormal choroid morphology4MFRP CL E G H8355235612ORPHA13125918121606227
HP:0000610HP:0000610Abnormal choroid morphology4PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1833409454604365
HP:0000610HP:0000610Abnormal choroid morphology4PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11813449942179605
HP:0000610HP:0000610Abnormal choroid morphology4PRSS56 CL E G H64696035612ORPHA1245839433613858
HP:0000610HP:0000610Abnormal choroid morphology4TMEM98 CL E G H2602235612ORPHA161524529615949
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000610HP:0000610Abnormal choroid morphology0GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000610HP:0000610Abnormal choroid morphology0NOD2 CL E G H6412790340ORPHA01214425331605956
HP:0000610HP:0000610Abnormal choroid morphology1GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000610HP:0000610Abnormal choroid morphology1NOD2 CL E G H6412790340ORPHA01214425331605956
HP:0000610HP:0000610Abnormal choroid morphology2GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000610HP:0000610Abnormal choroid morphology2NOD2 CL E G H6412790340ORPHA01214425331605956
HP:0000610HP:0000610Abnormal choroid morphology3GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000610HP:0000610Abnormal choroid morphology3NOD2 CL E G H6412790340ORPHA01214425331605956
HP:0000610HP:0000610Abnormal choroid morphology4GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000610HP:0000610Abnormal choroid morphology4NOD2 CL E G H6412790340ORPHA01214425331605956


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 June 2019 release.