Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the face (HP:0000271)help
Parent Node:
expand
Abnormality of the orbital region (HP:0000315)help
..Starting node
..expand
Coloboma (HP:0000589)help
Term ID: 589
Name: Coloboma
Synonym: Notched pupil; Ocular coloboma; Ocular colobomas
Definition: A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Comments:
Reference: HP:0000589
Genes and Diseases:
 
       Child Nodes:
........expandRetinal coloboma (HP:0000480) help
................... HP:0001116 Macular coloboma
................... HP:0007808 Bilateral retinal coloboma
................... HP:0031614 Inferior retinal coloboma
........expandChorioretinal coloboma (HP:0000567) help
................... HP:0031613 Inferior chorioretinal coloboma
........expandOptic nerve coloboma (HP:0000588) help
........expandIris coloboma (HP:0000612) help
........expandCiliary body coloboma (HP:0020006) help
........expandLens coloboma (HP:0100719) help

 Sister Nodes: 
..expandAbnormal ocular adnexa morphology (HP:0030669) help
..expandAbnormality of bony orbit of skull (HP:3000030) help
..expandAbnormality of globe location (HP:0100886) help
..expandAbnormality of globe size (HP:0100887) help
..expandHamartoma of the orbital region (HP:0030670) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000589HP:0000589Coloboma0ABCB6 CL E G H10058614497Microphthalmia, isolated, with coloboma 7614497C3281027OMIM1605747605452
HP:0000589HP:0000589Coloboma0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0000589HP:0000589Coloboma0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000589HP:0000589Coloboma0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0000589HP:0000589Coloboma0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000589HP:0000589Coloboma0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0000589HP:0000589Coloboma0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000589HP:0000589Coloboma0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000589HP:0000589Coloboma0FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM12293705608296
HP:0000589HP:0000589Coloboma0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000589HP:0000589Coloboma0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000589HP:0000589Coloboma0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000589HP:0000589Coloboma0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131863808601094
HP:0000589HP:0000589Coloboma0GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM16664218606522
HP:0000589HP:0000589Coloboma0GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1211654221601147
HP:0000589HP:0000589Coloboma0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000589HP:0000589Coloboma0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0000589HP:0000589Coloboma0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM1342955173190020
HP:0000589HP:0000589Coloboma0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM1452746407190070
HP:0000589HP:0000589Coloboma0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000589HP:0000589Coloboma0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM19426758604357
HP:0000589HP:0000589Coloboma0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000589HP:0000589Coloboma0MITF CL E G H4286617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness617306C4310625OMIM1612407105156845
HP:0000589HP:0000589Coloboma0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM1141817989164790
HP:0000589HP:0000589Coloboma0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178988522600037
HP:0000589HP:0000589Coloboma0PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM11398788602676
HP:0000589HP:0000589Coloboma0POLR1C CL E G H9533248390Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive248390C1855433OMIM1219220194610060
HP:0000589HP:0000589Coloboma0POLR1D CL E G H51082613717Treacher Collins syndrome 2613717C3150983OMIM1264820422613715
HP:0000589HP:0000589Coloboma0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000589HP:0000589Coloboma0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1814826267615247
HP:0000589HP:0000589Coloboma0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000589HP:0000589Coloboma0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000589HP:0000589Coloboma0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000589HP:0000589Coloboma0PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0000589HP:0000589Coloboma0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000589HP:0000589Coloboma0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0000589HP:0000589Coloboma0SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM134110526602219
HP:0000589HP:0000589Coloboma0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000589HP:0000589Coloboma0SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM112550029090614982
HP:0000589HP:0000589Coloboma0SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM177111119601500
HP:0000589HP:0000589Coloboma0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000589HP:0000589Coloboma0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0000589HP:0000589Coloboma0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM192525622617687
HP:0000589HP:0000589Coloboma0TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000589HP:0000589Coloboma0TBX22 CL E G H50945302905Abruzzo Erickson syndrome302905C1844862OMIM13018811600300307
HP:0000589HP:0000589Coloboma0TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM196726944614459
HP:0000589HP:0000589Coloboma0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000589HP:0000589Coloboma0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0000589HP:0000589Coloboma0VSX2 CL E G H338917610092Microphthalmia, isolated, with coloboma 3610092C1864721OMIM1131491975142993
HP:0000589HP:0000589Coloboma0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000589HP:0000589Coloboma0YAP1 CL E G H10413120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation120433C1852750OMIM1123816262606608
HP:0000589HP:0000589Coloboma1ABCB6 CL E G H10058614497Microphthalmia, isolated, with coloboma 7614497C3281027OMIM1605747605452
HP:0000589HP:0000589Coloboma1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0000589HP:0000589Coloboma1ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000589HP:0000589Coloboma1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0000589HP:0000589Coloboma1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000589HP:0000589Coloboma1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0000589HP:0000589Coloboma1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000589HP:0000589Coloboma1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000589HP:0000589Coloboma1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM12293705608296
HP:0000589HP:0000589Coloboma1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000589HP:0000589Coloboma1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000589HP:0000589Coloboma1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000589HP:0000589Coloboma1FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131863808601094
HP:0000589HP:0000589Coloboma1GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM16664218606522
HP:0000589HP:0000589Coloboma1GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1211654221601147
HP:0000589HP:0000589Coloboma1HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000589HP:0000589Coloboma1HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0000589HP:0000589Coloboma1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM1342955173190020
HP:0000589HP:0000589Coloboma1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM1452746407190070
HP:0000589HP:0000589Coloboma1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000589HP:0000589Coloboma1MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM19426758604357
HP:0000589HP:0000589Coloboma1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000589HP:0000589Coloboma1MITF CL E G H4286617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness617306C4310625OMIM1612407105156845
HP:0000589HP:0000589Coloboma1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM1141817989164790
HP:0000589HP:0000589Coloboma1OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178988522600037
HP:0000589HP:0000589Coloboma1PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM11398788602676
HP:0000589HP:0000589Coloboma1POLR1C CL E G H9533248390Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive248390C1855433OMIM1219220194610060
HP:0000589HP:0000589Coloboma1POLR1D CL E G H51082613717Treacher Collins syndrome 2613717C3150983OMIM1264820422613715
HP:0000589HP:0000589Coloboma1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000589HP:0000589Coloboma1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1814826267615247
HP:0000589HP:0000589Coloboma1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000589HP:0000589Coloboma1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000589HP:0000589Coloboma1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000589HP:0000589Coloboma1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0000589HP:0000589Coloboma1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000589HP:0000589Coloboma1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0000589HP:0000589Coloboma1SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM134110526602219
HP:0000589HP:0000589Coloboma1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000589HP:0000589Coloboma1SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM112550029090614982
HP:0000589HP:0000589Coloboma1SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM177111119601500
HP:0000589HP:0000589Coloboma1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000589HP:0000589Coloboma1SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0000589HP:0000589Coloboma1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM192525622617687
HP:0000589HP:0000589Coloboma1TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000589HP:0000589Coloboma1TBX22 CL E G H50945302905Abruzzo Erickson syndrome302905C1844862OMIM13018811600300307
HP:0000589HP:0000589Coloboma1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM196726944614459
HP:0000589HP:0000589Coloboma1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000589HP:0000589Coloboma1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0000589HP:0000589Coloboma1VSX2 CL E G H338917610092Microphthalmia, isolated, with coloboma 3610092C1864721OMIM1131491975142993
HP:0000589HP:0000589Coloboma1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000589HP:0000589Coloboma1YAP1 CL E G H10413120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation120433C1852750OMIM1123816262606608
HP:0000589HP:0000589Coloboma2ABCB6 CL E G H10058614497Microphthalmia, isolated, with coloboma 7614497C3281027OMIM1605747605452
HP:0000589HP:0000589Coloboma2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0000589HP:0000589Coloboma2ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000589HP:0000589Coloboma2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0000589HP:0000589Coloboma2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000589HP:0000589Coloboma2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0000589HP:0000589Coloboma2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000589HP:0000589Coloboma2ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000589HP:0000589Coloboma2FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM12293705608296
HP:0000589HP:0000589Coloboma2FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000589HP:0000589Coloboma2FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000589HP:0000589Coloboma2FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000589HP:0000589Coloboma2FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131863808601094
HP:0000589HP:0000589Coloboma2GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM16664218606522
HP:0000589HP:0000589Coloboma2GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1211654221601147
HP:0000589HP:0000589Coloboma2HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000589HP:0000589Coloboma2HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0000589HP:0000589Coloboma2HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM1342955173190020
HP:0000589HP:0000589Coloboma2KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM1452746407190070
HP:0000589HP:0000589Coloboma2LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000589HP:0000589Coloboma2MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM19426758604357
HP:0000589HP:0000589Coloboma2MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000589HP:0000589Coloboma2MITF CL E G H4286617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness617306C4310625OMIM1612407105156845
HP:0000589HP:0000589Coloboma2NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM1141817989164790
HP:0000589HP:0000589Coloboma2OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178988522600037
HP:0000589HP:0000589Coloboma2PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM11398788602676
HP:0000589HP:0000589Coloboma2POLR1C CL E G H9533248390Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive248390C1855433OMIM1219220194610060
HP:0000589HP:0000589Coloboma2POLR1D CL E G H51082613717Treacher Collins syndrome 2613717C3150983OMIM1264820422613715
HP:0000589HP:0000589Coloboma2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000589HP:0000589Coloboma2POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1814826267615247
HP:0000589HP:0000589Coloboma2POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000589HP:0000589Coloboma2POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000589HP:0000589Coloboma2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000589HP:0000589Coloboma2PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0000589HP:0000589Coloboma2RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000589HP:0000589Coloboma2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0000589HP:0000589Coloboma2SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM134110526602219
HP:0000589HP:0000589Coloboma2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000589HP:0000589Coloboma2SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM112550029090614982
HP:0000589HP:0000589Coloboma2SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM177111119601500
HP:0000589HP:0000589Coloboma2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000589HP:0000589Coloboma2SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0000589HP:0000589Coloboma2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM192525622617687
HP:0000589HP:0000589Coloboma2TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000589HP:0000589Coloboma2TBX22 CL E G H50945302905Abruzzo Erickson syndrome302905C1844862OMIM13018811600300307
HP:0000589HP:0000589Coloboma2TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM196726944614459
HP:0000589HP:0000589Coloboma2TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000589HP:0000589Coloboma2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0000589HP:0000589Coloboma2VSX2 CL E G H338917610092Microphthalmia, isolated, with coloboma 3610092C1864721OMIM1131491975142993
HP:0000589HP:0000589Coloboma2WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000589HP:0000589Coloboma2YAP1 CL E G H10413120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation120433C1852750OMIM1123816262606608
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000589HP:0000589Coloboma0ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM048261144102560
HP:0000589HP:0000589Coloboma0ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM025138409600463
HP:0000589HP:0000589Coloboma0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000589HP:0000589Coloboma0GDF6 CL E G H392255613094Microphthalmia, isolated 4613094C2751307OMIM0211654221601147
HP:0000589HP:0000589Coloboma0KDM6A CL E G H74032322ORPHA08131112637300128
HP:0000589HP:0000589Coloboma0KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0000589HP:0000589Coloboma0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000589HP:0000589Coloboma0KMT2D CL E G H80852322ORPHA071213507133602113
HP:0000589HP:0000589Coloboma0RAP1A CL E G H59062322ORPHA02209855179520
HP:0000589HP:0000589Coloboma0RAP1B CL E G H59082322ORPHA01199857179530
HP:0000589HP:0000589Coloboma0SHH CL E G H6469147250Single median maxillary incisor147250C1840235OMIM022121010848600725
HP:0000589HP:0000589Coloboma0SPECC1L CL E G H23384600251Oculomaxillofacial dysostosis600251C1838348OMIM0815629022614140
HP:0000589HP:0000589Coloboma1ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM048261144102560
HP:0000589HP:0000589Coloboma1ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM025138409600463
HP:0000589HP:0000589Coloboma1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000589HP:0000589Coloboma1GDF6 CL E G H392255613094Microphthalmia, isolated 4613094C2751307OMIM0211654221601147
HP:0000589HP:0000589Coloboma1KDM6A CL E G H74032322ORPHA08131112637300128
HP:0000589HP:0000589Coloboma1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0000589HP:0000589Coloboma1KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000589HP:0000589Coloboma1KMT2D CL E G H80852322ORPHA071213507133602113
HP:0000589HP:0000589Coloboma1RAP1A CL E G H59062322ORPHA02209855179520
HP:0000589HP:0000589Coloboma1RAP1B CL E G H59082322ORPHA01199857179530
HP:0000589HP:0000589Coloboma1SHH CL E G H6469147250Single median maxillary incisor147250C1840235OMIM022121010848600725
HP:0000589HP:0000589Coloboma1SPECC1L CL E G H23384600251Oculomaxillofacial dysostosis600251C1838348OMIM0815629022614140
HP:0000589HP:0000589Coloboma2ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM048261144102560
HP:0000589HP:0000589Coloboma2ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM025138409600463
HP:0000589HP:0000589Coloboma2BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000589HP:0000589Coloboma2GDF6 CL E G H392255613094Microphthalmia, isolated 4613094C2751307OMIM0211654221601147
HP:0000589HP:0000589Coloboma2KDM6A CL E G H74032322ORPHA08131112637300128
HP:0000589HP:0000589Coloboma2KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM03115519960610178
HP:0000589HP:0000589Coloboma2KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000589HP:0000589Coloboma2KMT2D CL E G H80852322ORPHA071213507133602113
HP:0000589HP:0000589Coloboma2RAP1A CL E G H59062322ORPHA02209855179520
HP:0000589HP:0000589Coloboma2RAP1B CL E G H59082322ORPHA01199857179530
HP:0000589HP:0000589Coloboma2SHH CL E G H6469147250Single median maxillary incisor147250C1840235OMIM022121010848600725
HP:0000589HP:0000589Coloboma2SPECC1L CL E G H23384600251Oculomaxillofacial dysostosis600251C1838348OMIM0815629022614140


Genes (196) :AAAS ABCB6 ACTB ACTG1 AHI1 AKT1 ALDH1A3 ALG2 ALG3 ALX3 ANK1 ARL13B ARL3 ARMC9 ATOH7 ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 BCOR BMP4 C12ORF57 CASK CC2D2A CCDC22 CDON CENPF CEP104 CEP120 CEP290 CEP41 CHD7 CHN1 CLDN19 COL25A1 COL4A1 COX7B CPLANE1 CPLX1 CREBBP CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 DACT1 DAG1 DDX11 DHCR7 DHX38 DISP1 DLL1 DPYD EP300 ERF ESCO2 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FIBP FKRP FKTN FLI1 FLNA FOXE3 FOXH1 GAS1 GDF3 GDF6 GJA8 GLI2 GMPPA GNAQ GZF1 HCCS HHAT HMGB3 HMX1 HRAS HYLS1 IGBP1 INPP5E KCTD1 KDM6A KIAA0556 KIAA0586 KIF1BP KIF7 KMT2D KRAS LARGE1 LETM1 LRP2 MAB21L2 MAF MAFB MBTPS2 MED13L MITF MKS1 MPDZ NAA10 NDUFB11 NELFA NIPBL NMNAT1 NODAL NOTCH2 NOTCH3 NPHP1 NRAS NSD2 OTX2 PAX2 PAX6 PDE6D PIBF1 PIGL PITX3 PNPLA6 POGZ POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PQBP1 PTCH1 PTCH2 PTEN PUF60 RAB18 RAB3GAP1 RAB3GAP2 RAP1A RAP1B RB1 RBP4 RERE RPGRIP1L RSPO2 RXYLT1 SALL1 SALL2 SALL4 SEMA3E SH2B1 SHH SIN3A SIX3 SIX6 SMCHD1 SMO SOX2 SPECC1L SPINT2 SRD5A3 SUFU TBC1D20 TBC1D23 TBR1 TBX22 TCOF1 TCTN1 TCTN2 TDGF1 TENM3 TFAP2A TGIF1 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRAPPC11 TSC1 TSC2 VPS13B VSX2 WASHC5 WHCR WNT3 YAP1 ZEB2 ZIC2 ZNF423

Diseases (164) :614497 614583 615113 607906 136760 607932 216360 180849 274270 268300 617107 613153 236670 610256 613703 613094 300915 612109 163200 2322 616490 200990 615877 616789 617306 610125 615665 248390 613717 253280 615249 309500 615583 616975 216820 147250 206900 603457 601707 600251 612379 617695 1617 302905 614465 614424 610092 220210 120433 869 243310 2995 220493 475 744 79326 601110 391474 251066 221900 618012 899 709 261540 568 2712 309800 139471 1777 218340 163937 2318 1454 7 280200 243605 610188 138 214800 233 2196 309801 194190 1377 604219 857 613398 818 207 2791 2396 147950 2308 300244 88632 613702 3205 617662 1422 2612 52055 300472 213300 181270 616546 66629 280 222448 2143 610202 85284 249000 615219 122470 955 2789 220497 1475 120330 35737 137902 120430 120200 3474 280000 2377 616364 861 2092 305600 377 109400 610828 508488 2510 1587 616428 615147 3301 107480 959 607323 261197 611638 613406 212550 2250 1553 77298 270420 612713 921 615145 1297 113620 608091 610688 805 193 1473 235730 248190 618220 608553
 

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