Human Gene Set: HP_MACULAR_COLOBOMA


Standard name HP_MACULAR_COLOBOMA
Systematic name M41230
Brief description Macular coloboma
Full description or abstract A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. [https://orcid.org/0000-0001-8727-6592, PMID:15069441]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001116
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001116
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
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NCI-60 cell lines (National Cancer Institute)
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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