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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 23, Autosomal Recessive
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Accession:DOID:9001833 term browser browse the term
Synonyms:exact_synonym: MYP23;   RARE ISOLATED MYOPIA;   myopia-23
 primary_id: MIM:615431
 alt_id: RDO:9001112


show annotations for term's descendants           Sort by:
Myopia 23, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpap1 LDL receptor related protein associated protein 1 ISO ClinVar Annotator: match by term: Myopia 23, autosomal recessive | ClinVar Annotator: match by term: Rare isolated myopia OMIM
ClinVar		 PMID:23830514 PMID:24033266 PMID:25525168 PMID:25741868 PMID:26271838 NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414 		JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Rare isolated myopia ClinVar PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    sensory system disease 7330
      eye disease 3696
        refractive error 241
          myopia 182
            Myopia 23, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        Neurologic Manifestations 10421
          sensory system disease 7330
            eye disease 3696
              refractive error 241
                myopia 182
                  Myopia 23, Autosomal Recessive 2
paths to the root