Human Phenotype Ontology 
Grandparent Node:
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Abnormal fundus morphology (HP:0001098)help
Parent Node:
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Abnormal choroid morphology (HP:0000610)help
Parent Node:
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Abnormal retinal morphology (HP:0000479)help
..Starting node
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Abnormal chorioretinal morphology (HP:0000532)help
Term ID: 532
Name: Abnormal chorioretinal morphology
Synonym: Chorioretinal abnormality
Definition: An abnormality of the choroid and retina.
Comments:
Reference: HP:0000532
Genes and Diseases:
 
       Child Nodes:
........expandChorioretinal coloboma (HP:0000567) help
................... HP:0031613 Inferior chorioretinal coloboma
........expandChorioretinal dystrophy (HP:0001135) help
........expandAbnormality of chorioretinal pigmentation (HP:0007661) help
................... HP:0040030 Chorioretinal hypopigmentation
................... HP:0040031 Chorioretinal hyperpigmentation
........expandChorioretinal dysplasia (HP:0007731) help
........expandChorioretinal lacunae (HP:0007858) help
........expandChorioretinitis (HP:0012424) help
........expandCentral serous chorioretinopathy (HP:0025567) help
........expandChorioretinal degeneration (HP:0200065) help
................... HP:0000533 Chorioretinal atrophy
................... HP:0007777 Chorioretinal scar

 Sister Nodes: 
..expandAbnormal macular morphology (HP:0001103) help
..expandAbnormal retinal vascular morphology (HP:0008046) help
..expandAbnormality of retinal pigmentation (HP:0007703) help
..expandAngioid streaks of the fundus (HP:0001102) help
..expandAplasia/Hypoplasia of the retina (HP:0008061) help
..expandHypermyelinated retinal nerve fibers (HP:0007922) help
..expandIntraretinal fluid (HP:0031527) help
..expandRetinal coloboma (HP:0000480) help
..expandRetinal degeneration (HP:0000546) help
..expandRetinal detachment (HP:0000541) help
..expandRetinal dysplasia (HP:0007973) help
..expandRetinal dystrophy (HP:0000556) help
..expandRetinal fold (HP:0008052) help
..expandRetinal hamartoma (HP:0009594) help
..expandRetinal hemorrhage (HP:0000573) help
..expandRetinal infarction (HP:0007866) help
..expandRetinal neoplasm (HP:0012777) help
..expandRetinal perforation (HP:0011958) help
..expandRetinal thinning (HP:0030329) help
..expandRetinopathy (HP:0000488) help
..expandRetinoschisis (HP:0030502) help
..expandSub-RPE deposits (HP:0031531) help
..expandSubretinal deposits (HP:0031528) help
..expandSubretinal fluid (HP:0031526) help
..expandYellow/white lesions of the retina (HP:0030506) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000532HP:0000532Abnormal chorioretinal morphology0ALMS1 CL E G H784064ORPHA13161745428606844
HP:0000532HP:0000532Abnormal chorioretinal morphology0B9D1 CL E G H27077564ORPHA11015824123614144
HP:0000532HP:0000532Abnormal chorioretinal morphology0B9D2 CL E G H80776564ORPHA144028636611951
HP:0000532HP:0000532Abnormal chorioretinal morphology0CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0000532HP:0000532Abnormal chorioretinal morphology0CEP290 CL E G H80184564ORPHA131088429021610142
HP:0000532HP:0000532Abnormal chorioretinal morphology0CEP55 CL E G H55165564ORPHA12341161610000
HP:0000532HP:0000532Abnormal chorioretinal morphology0CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0000532HP:0000532Abnormal chorioretinal morphology0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177164931142800
HP:0000532HP:0000532Abnormal chorioretinal morphology0MKS1 CL E G H54903564ORPHA1523347121609883
HP:0000532HP:0000532Abnormal chorioretinal morphology0MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000532HP:0000532Abnormal chorioretinal morphology0MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000532HP:0000532Abnormal chorioretinal morphology0MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000532HP:0000532Abnormal chorioretinal morphology0NDP CL E G H4693649ORPHA11672077678300658
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX11B CL E G H8799912ORPHA182478853603867
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX14 CL E G H5195912ORPHA151768856601791
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX19 CL E G H5824912ORPHA141339713600279
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000532HP:0000532Abnormal chorioretinal morphology0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000532HP:0000532Abnormal chorioretinal morphology0RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0000532HP:0000532Abnormal chorioretinal morphology0RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0000532HP:0000532Abnormal chorioretinal morphology0TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0000532HP:0000532Abnormal chorioretinal morphology0TMEM107 CL E G H84314564ORPHA138128128616183
HP:0000532HP:0000532Abnormal chorioretinal morphology0TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0000532HP:0000532Abnormal chorioretinal morphology0TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0000532HP:0000532Abnormal chorioretinal morphology0TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0000532HP:0000532Abnormal chorioretinal morphology0WDPCP CL E G H51057564ORPHA1817628027613580
HP:0000532HP:0000532Abnormal chorioretinal morphology1ALMS1 CL E G H784064ORPHA13161745428606844
HP:0000532HP:0000532Abnormal chorioretinal morphology1B9D1 CL E G H27077564ORPHA11015824123614144
HP:0000532HP:0000532Abnormal chorioretinal morphology1B9D2 CL E G H80776564ORPHA144028636611951
HP:0000532HP:0000532Abnormal chorioretinal morphology1CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0000532HP:0000532Abnormal chorioretinal morphology1CEP290 CL E G H80184564ORPHA131088429021610142
HP:0000532HP:0000532Abnormal chorioretinal morphology1CEP55 CL E G H55165564ORPHA12341161610000
HP:0000532HP:0000532Abnormal chorioretinal morphology1CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0000532HP:0000532Abnormal chorioretinal morphology1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177164931142800
HP:0000532HP:0000532Abnormal chorioretinal morphology1MKS1 CL E G H54903564ORPHA1523347121609883
HP:0000532HP:0000532Abnormal chorioretinal morphology1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000532HP:0000532Abnormal chorioretinal morphology1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000532HP:0000532Abnormal chorioretinal morphology1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000532HP:0000532Abnormal chorioretinal morphology1NDP CL E G H4693649ORPHA11672077678300658
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX11B CL E G H8799912ORPHA182478853603867
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX14 CL E G H5195912ORPHA151768856601791
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX19 CL E G H5824912ORPHA141339713600279
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000532HP:0000532Abnormal chorioretinal morphology1PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000532HP:0000532Abnormal chorioretinal morphology1RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0000532HP:0000532Abnormal chorioretinal morphology1RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0000532HP:0000532Abnormal chorioretinal morphology1TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0000532HP:0000532Abnormal chorioretinal morphology1TMEM107 CL E G H84314564ORPHA138128128616183
HP:0000532HP:0000532Abnormal chorioretinal morphology1TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0000532HP:0000532Abnormal chorioretinal morphology1TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0000532HP:0000532Abnormal chorioretinal morphology1TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0000532HP:0000532Abnormal chorioretinal morphology1WDPCP CL E G H51057564ORPHA1817628027613580
HP:0000532HP:0000532Abnormal chorioretinal morphology2ALMS1 CL E G H784064ORPHA13161745428606844
HP:0000532HP:0000532Abnormal chorioretinal morphology2B9D1 CL E G H27077564ORPHA11015824123614144
HP:0000532HP:0000532Abnormal chorioretinal morphology2B9D2 CL E G H80776564ORPHA144028636611951
HP:0000532HP:0000532Abnormal chorioretinal morphology2CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0000532HP:0000532Abnormal chorioretinal morphology2CEP290 CL E G H80184564ORPHA131088429021610142
HP:0000532HP:0000532Abnormal chorioretinal morphology2CEP55 CL E G H55165564ORPHA12341161610000
HP:0000532HP:0000532Abnormal chorioretinal morphology2CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0000532HP:0000532Abnormal chorioretinal morphology2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177164931142800
HP:0000532HP:0000532Abnormal chorioretinal morphology2MKS1 CL E G H54903564ORPHA1523347121609883
HP:0000532HP:0000532Abnormal chorioretinal morphology2MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000532HP:0000532Abnormal chorioretinal morphology2MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000532HP:0000532Abnormal chorioretinal morphology2MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000532HP:0000532Abnormal chorioretinal morphology2NDP CL E G H4693649ORPHA11672077678300658
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX11B CL E G H8799912ORPHA182478853603867
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX14 CL E G H5195912ORPHA151768856601791
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX19 CL E G H5824912ORPHA141339713600279
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000532HP:0000532Abnormal chorioretinal morphology2PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000532HP:0000532Abnormal chorioretinal morphology2RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0000532HP:0000532Abnormal chorioretinal morphology2RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0000532HP:0000532Abnormal chorioretinal morphology2TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0000532HP:0000532Abnormal chorioretinal morphology2TMEM107 CL E G H84314564ORPHA138128128616183
HP:0000532HP:0000532Abnormal chorioretinal morphology2TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0000532HP:0000532Abnormal chorioretinal morphology2TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0000532HP:0000532Abnormal chorioretinal morphology2TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0000532HP:0000532Abnormal chorioretinal morphology2WDPCP CL E G H51057564ORPHA1817628027613580
HP:0000532HP:0000532Abnormal chorioretinal morphology3ALMS1 CL E G H784064ORPHA13161745428606844
HP:0000532HP:0000532Abnormal chorioretinal morphology3B9D1 CL E G H27077564ORPHA11015824123614144
HP:0000532HP:0000532Abnormal chorioretinal morphology3B9D2 CL E G H80776564ORPHA144028636611951
HP:0000532HP:0000532Abnormal chorioretinal morphology3CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0000532HP:0000532Abnormal chorioretinal morphology3CEP290 CL E G H80184564ORPHA131088429021610142
HP:0000532HP:0000532Abnormal chorioretinal morphology3CEP55 CL E G H55165564ORPHA12341161610000
HP:0000532HP:0000532Abnormal chorioretinal morphology3CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0000532HP:0000532Abnormal chorioretinal morphology3HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177164931142800
HP:0000532HP:0000532Abnormal chorioretinal morphology3MKS1 CL E G H54903564ORPHA1523347121609883
HP:0000532HP:0000532Abnormal chorioretinal morphology3MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0000532HP:0000532Abnormal chorioretinal morphology3MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0000532HP:0000532Abnormal chorioretinal morphology3MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0000532HP:0000532Abnormal chorioretinal morphology3NDP CL E G H4693649ORPHA11672077678300658
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX11B CL E G H8799912ORPHA182478853603867
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX14 CL E G H5195912ORPHA151768856601791
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX19 CL E G H5824912ORPHA141339713600279
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000532HP:0000532Abnormal chorioretinal morphology3PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000532HP:0000532Abnormal chorioretinal morphology3RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0000532HP:0000532Abnormal chorioretinal morphology3RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0000532HP:0000532Abnormal chorioretinal morphology3TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0000532HP:0000532Abnormal chorioretinal morphology3TMEM107 CL E G H84314564ORPHA138128128616183
HP:0000532HP:0000532Abnormal chorioretinal morphology3TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0000532HP:0000532Abnormal chorioretinal morphology3TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0000532HP:0000532Abnormal chorioretinal morphology3TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0000532HP:0000532Abnormal chorioretinal morphology3WDPCP CL E G H51057564ORPHA1817628027613580
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000532HP:0000532Abnormal chorioretinal morphology0CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM0441322020600570
HP:0000532HP:0000532Abnormal chorioretinal morphology0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0000532HP:0000532Abnormal chorioretinal morphology1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM0441322020600570
HP:0000532HP:0000532Abnormal chorioretinal morphology1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0000532HP:0000532Abnormal chorioretinal morphology2CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM0441322020600570
HP:0000532HP:0000532Abnormal chorioretinal morphology2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0000532HP:0000532Abnormal chorioretinal morphology3CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM0441322020600570
HP:0000532HP:0000532Abnormal chorioretinal morphology3IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248


Genes (124) :ACTB ACVRL1 ADAMTS18 AKT1 ALMS1 B3GALNT2 B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 C12ORF57 CASK CC2D2A CCDC22 CEP290 CEP55 CHD7 CHM CHN1 CLCN2 CLDN19 COL25A1 COL4A1 COX7B CRB1 CREBBP CRPPA CRX CSPP1 CYP4V2 DACT1 DAG1 DPP6 EP300 EYS FKRP FKTN FSCN2 GDF3 GUCY2D GZF1 HADHA HCCS HHAT HLA-A IKBKG INPP5E JAG1 KIF11 LARGE1 MAFB MKS1 MT-TE MT-TK MT-TL1 NAA10 NDP NDUFB11 NRL OAT OCRL PAX2 PAX6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU3F4 PRPH2 PTEN RBP4 RNF216 ROM1 RP2 RPGRIP1 RPGRIP1L RXYLT1 SAG SALL1 SALL4 SEMA3E SHH SIX6 SLC25A15 TBX22 TCTN2 TEAD1 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRNE TRNK TRNL1 TUBGCP4 TUBGCP6 UBE3B VCAN VPS13B WASHC5 WDPCP YAP1 ZNF408 ZNF423

Diseases (79) :64 564 615651 179 464 649 912 225 243310 615458 744 899 568 309800 193220 139471 1777 218340 163937 2318 1454 7 138 303100 233 2196 2556 180849 857 616311 613702 617662 1422 213300 2526 152950 534 137902 120200 1180 215470 2092 305600 1435 616428 212840 312600 107480 959 611638 212550 921 608091 610688 616335 251270 2707 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.