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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Myopia 28
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Accession:DOID:9004584 term browser browse the term
Definition:Early-onset high myopia in the first decade of life. Caused by homozygous or compound heterozygous mutation in the LOXL3 gene on chromosome 2p13.
Synonyms:exact_synonym: MYP28;   myopia 28, autosomal recessive
 primary_id: OMIM:619781


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Myopia 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOK1 docking protein 1 IAGP ClinVar Annotator: match by term: Myopia 28, autosomal recessive ClinVar PMID:26957899 PMID:28492532 PMID:36917121 NCBI chr 2:74,549,105...74,557,551
Ensembl chr 2:74,549,026...74,557,551 		JBrowse link
G LOXL3 lysyl oxidase like 3 IAGP ClinVar Annotator: match by term: Myopia 28, autosomal recessive OMIM
ClinVar		 PMID:26957899 PMID:28492532 PMID:33456446 PMID:36917121 NCBI chr 2:74,532,258...74,555,702
Ensembl chr 2:74,532,258...74,555,690 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      eye disease 4942
        refractive error 269
          myopia 214
            Myopia 28 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9730
            eye disease 4942
              refractive error 269
                myopia 214
                  Myopia 28 2
paths to the root