Human Gene Set: HP_OPTIC_DISC_DRUSEN


Standard name HP_OPTIC_DISC_DRUSEN
Systematic name M38101
Brief description Optic disc drusen
Full description or abstract Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. [https://orcid.org/0000-0002-0736-9199, PMID:22787500, PMID:23658477, PMID:30524490]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0012426
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0012426
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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
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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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