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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal iris pigmentation
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Accession:MP:0005102 term browser browse the term
Definition:anomalous coloring of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye
Synonyms:narrow_synonym: Brushfield spots
 xref: HP:0001088


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abnormal iris pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IAGP MGI PMID:16578176 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase IEA MGI NCBI chr 9:4,294,793...4,309,656
Ensembl chr 9:4,294,793...4,309,471 		JBrowse link
G Abi2 abl interactor 2 IEA MGI NCBI chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted IEA MGI NCBI chr13:38,786,674...38,821,093
Ensembl chr13:38,776,818...38,819,085 		JBrowse link
G Ccdc28a coiled-coil domain containing 28A IEA MGI NCBI chr10:18,089,424...18,110,940
Ensembl chr10:18,089,424...18,110,746 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 IEA MGI NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Dct dopachrome tautomerase IAGP MGI PMID:18715234 NCBI chr14:118,250,202...118,289,658
Ensembl chr14:118,250,202...118,289,656 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 IEA MGI NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623 		JBrowse link
G Eddm3b epididymal protein 3B IEA MGI NCBI chr14:51,351,886...51,355,248
Ensembl chr14:51,351,883...51,355,264 		JBrowse link
G Epb41l1 erythrocyte membrane protein band 4.1 like 1 IEA MGI NCBI chr 2:156,255,918...156,385,134
Ensembl chr 2:156,262,829...156,385,134 		JBrowse link
G Frmd4b FERM domain containing 4B IEA MGI NCBI chr 6:97,263,828...97,594,618
Ensembl chr 6:97,263,828...97,594,502 		JBrowse link
G Fshr follicle stimulating hormone receptor IEA MGI NCBI chr17:89,292,380...89,508,103
Ensembl chr17:89,292,380...89,508,103 		JBrowse link
G Gpnmb glycoprotein (transmembrane) nmb IAGP MGI PMID:10192392 PMID:16827931 NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP MGI PMID:18715234 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 IAGP MGI PMID:18715234 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 IEA MGI NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488 		JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 IAGP MGI PMID:16578176 NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
G Hsf4 heat shock transcription factor 4 IEA MGI NCBI chr 8:105,996,392...106,002,477
Ensembl chr 8:105,996,433...106,002,477 		JBrowse link
G Kdm8 lysine (K)-specific demethylase 8 IEA MGI NCBI chr 7:125,043,788...125,062,823
Ensembl chr 7:125,043,848...125,061,441 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:13943454 PMID:16518687 PMID:18715234 PMID:19029039 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:4392283 PMID:8402531 PMID:11929848 PMID:18715234 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IEA MGI NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 IAGP MGI PMID:4970465 NCBI chr19:46,123,720...46,136,764
Ensembl chr19:46,124,124...46,136,765 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP MGI PMID:18715234 NCBI chr 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 IEA MGI NCBI chr 3:108,332,180...108,352,575
Ensembl chr 3:108,332,181...108,352,525 		JBrowse link
G Slc24a5 solute carrier family 24, member 5 IAGP MGI PMID:18424845 NCBI chr 2:124,910,076...124,930,316
Ensembl chr 2:124,910,044...124,930,597 		JBrowse link
G Slc38a8 solute carrier family 38, member 8 IAGP MGI PMID:37862028 NCBI chr 8:120,206,313...120,228,503
Ensembl chr 8:120,206,341...120,228,437 		JBrowse link
G Tmem98 transmembrane protein 98 IAGP MGI PMID:31266059 NCBI chr11:80,701,192...80,712,859
Ensembl chr11:80,701,001...80,712,859 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 IEA MGI NCBI chr13:74,060,577...74,085,855
Ensembl chr13:74,059,466...74,085,903 		JBrowse link
G Tyr tyrosinase IAGP MGI PMID:21968110 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 IAGP MGI PMID:16827931 PMID:18715234 NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
G Vps33a VPS33A CORVET/HOPS core subunit IAGP MGI PMID:18715234 NCBI chr 5:123,666,820...123,711,104
Ensembl chr 5:123,666,722...123,711,101 		JBrowse link
abnormal iris stromal pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen, type XVIII, alpha 1 IAGP MGI PMID:12766032 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Mitf melanogenesis associated transcription factor IEA MGI NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17090
    vision/eye phenotype 3190
      abnormal eye morphology 3031
        abnormal eye pigmentation 210
          abnormal iris pigmentation 32
            abnormal iris stromal pigmentation 2
            heterochromatic iridis 0
Path 2
Term Annotations click to browse term
  mammalian phenotype 17090
    vision/eye phenotype 3190
      abnormal eye morphology 3031
        abnormal anterior eye segment morphology 1185
          abnormal anterior uvea morphology 226
            abnormal iris morphology 214
              abnormal iris pigmentation 32
                abnormal iris stromal pigmentation 2
                heterochromatic iridis 0
paths to the root