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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:iris hypoplasia
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Accession:MP:0006226 term browser browse the term
Definition:decrease in the number of normal cells in normal arrangement in the iris, typically resulting in decreased size
Synonyms:exact_synonym: hypoplastic iris


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iris hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:11722794 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:9635428 PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxe3 forkhead box E3 IAGP MGI PMID:17064680 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 IAGP MGI PMID:30802441 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:25451153 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 IAGP MGI PMID:18424556 NCBI chr 2:109,747,919...109,844,602
Ensembl chr 2:109,747,992...109,844,602 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:20568247 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:8402531 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:103464 PMID:11983873 PMID:12714618 PMID:19563798 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:20568247 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Porcn porcupine O-acyltransferase IAGP MGI PMID:25451153 NCBI chr  X:8,060,085...8,072,794
Ensembl chr  X:8,060,087...8,072,764 		JBrowse link
G Pxdn peroxidasin IAGP MGI PMID:24895407 NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657 		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 Tsc1 TSC complex subunit 1 IAGP MGI PMID:28250050 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
iris stroma hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxc2 forkhead box C2 IAGP MGI PMID:10767326 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:20568247 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hoxa13 homeobox A13 IAGP MGI PMID:11543619 NCBI chr 6:52,235,833...52,237,865
Ensembl chr 6:52,234,674...52,237,788 		JBrowse link
G Hoxd13 homeobox D13 IAGP MGI PMID:11543619 NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943 		JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 IAGP MGI PMID:18424556 NCBI chr 2:109,747,919...109,844,602
Ensembl chr 2:109,747,992...109,844,602 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:20568247 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17088
    vision/eye phenotype 3189
      abnormal eye morphology 3030
        abnormal uvea morphology 275
          abnormal anterior uvea morphology 226
            abnormal iris morphology 214
              iris hypoplasia 17
                iris stroma hypoplasia 7
paths to the root