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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
 primary_id: MESH:C563700
 alt_id: OMIM:609549


show annotations for term's descendants           Sort by:
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 chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774 		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 chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      eye disease 3375
        microphthalmia 204
          nanophthalmos 5
            Nanophthalmos 2 2
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6624
            eye disease 3375
              Eye Abnormalities 771
                microphthalmia 204
                  nanophthalmos 5
                    Nanophthalmos 2 2
paths to the root