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MACOM macrophthalmia, colobomatous, with microcornea [ Homo sapiens (human) ]

Gene ID: 791229, updated on 31-Aug-2024

Summary

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Official Symbol
MACOMprovided by HGNC
Official Full Name
macrophthalmia, colobomatous, with microcorneaprovided by HGNC
Primary source
MIM:602499
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Genomic context

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Location:
2p23-p16

Bibliography

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Related articles in PubMed

  1. Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region. Elcioglu NH, et al. Am J Med Genet A, 2007 Jun 15. PMID 17506091
  2. Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree. Toker E, et al. Am J Med Genet A, 2003 Aug 15. PMID 12900897

GeneRIFs: Gene References Into Functions

Phenotypes

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Associated conditions

Description Tests
macrophthalmia, colobomatous, with microcornea
OMIM: 602499GeneReviews: Not available

General gene information

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Property

  • phenotype only

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