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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Retinal coloboma
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Accession:HP:0000480 term browser browse the term
Definition:A notch or cleft of the retina.
Synonyms:exact_synonym: Hole in the back of the eye
 alt_id: HP:0007808
 xref: UMLS:C3540764



show annotations for term's descendants           Sort by:
Retinal coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:220493 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 IAGP HPO MIM:615113 NCBI chr15:100,879,831...100,916,626
Ensembl chr15:100,861,924...100,916,626
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO MIM:300749 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554
JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:220493 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:610188 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO ORPHA:220493 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Retinal coloboma ClinVar
HPO
PMID:25741868 MIM:214800 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO MIM:617107 ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
JBrowse link
G FZD5 frizzled class receptor 5 IAGP HPO MIM:620731 NCBI chr 2:207,762,598...207,769,906
Ensembl chr 2:207,762,598...207,769,906
JBrowse link
G HMX1 H6 family homeobox 1 IAGP HPO MIM:612109 NCBI chr 4:8,846,076...8,871,839
Ensembl chr 4:8,846,076...8,871,839
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:220493 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G INTS1 integrator complex subunit 1 IAGP HPO MIM:618571 NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KIAA0586 KIAA0586 IAGP HPO MIM:616546 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO MIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:220493 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G PAX2 paired box 2 IAGP HPO MIM:120330 ORPHA:1475 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
JBrowse link
G RAP1B RAP1B, member of RAS oncogene family IAGP HPO MIM:620654 NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901
JBrowse link
G SALL2 spalt like transcription factor 2 IAGP HPO MIM:216820 NCBI chr14:21,521,080...21,537,121
Ensembl chr14:21,521,080...21,537,216
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO MIM:607323 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
Macular coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN19 claudin 19 IAGP HPO MIM:248190 ORPHA:2196 NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254
JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO MIM:613835 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
JBrowse link
G DHX38 DEAH-box helicase 38 IAGP HPO MIM:618220 NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
JBrowse link
G LCA5 lebercilin LCA5 IAGP HPO ORPHA:364055 NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:364055 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO MIM:608553 MIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO ORPHA:423479 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP HPO ORPHA:364055 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:364055 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
JBrowse link
G TENM3 teneurin transmembrane protein 3 IAGP HPO MIM:615145 NCBI chr 4:181,447,613...182,803,024
Ensembl chr 4:182,143,987...182,803,024
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87531
    Phenotypic abnormality 87110
      Abnormality of the eye 5919
        Abnormal eye morphology 3886
          Coloboma 253
            Retinal coloboma 43
              Inferior retinal coloboma 0
              Macular coloboma 11
Path 2
Term Annotations click to browse term
  Human phenotype 87531
    Phenotypic abnormality 87110
      Abnormality of the eye 5919
        Abnormal eye morphology 3886
          Abnormal posterior eye segment morphology 2400
            Abnormal fundus morphology 2391
              Abnormal retinal morphology 1960
                Retinal coloboma 43
                  Inferior retinal coloboma 0
                  Macular coloboma 11
paths to the root