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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:Nanophthalmos 2
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Accession:DOID:9002122 term browser browse the term
Synonyms:exact_synonym: NNO2;   Nanophthalmia 2;   Nanophthalmos, Autosomal Recessive
 xref: MESH:C563700;   MIM:609549;   MONDO:0012299;   NCI:C206113

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Nanophthalmos 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Nanophthalmos 2 ClinVar PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Nanophthalmos 2 OMIM
ClinVar		 PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    sensory system disease 6566
      eye disease 3399
        microphthalmia 217
          nanophthalmos 5
            Nanophthalmos 2 2
Path 2
Term Annotations click to browse term
  disease 14337
    Pathological Conditions, Signs and Symptoms 11320
      Signs and Symptoms 9522
        Neurologic Manifestations 9221
          sensory system disease 6566
            eye disease 3399
              Eye Abnormalities 767
                microphthalmia 217
                  nanophthalmos 5
                    Nanophthalmos 2 2
paths to the root