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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


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 tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Nanophthalmos 2 ClinVar PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G Mfrp membrane frizzled-related protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nanophthalmos 2		 OMIM
CTD
ClinVar		 PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16268
    sensory system disease 7194
      eye disease 3727
        microphthalmia 228
          nanophthalmos 5
            Nanophthalmos 2 2
Path 2
Term Annotations click to browse term
  disease 16268
    Pathological Conditions, Signs and Symptoms 12656
      Signs and Symptoms 10549
        Neurologic Manifestations 10213
          sensory system disease 7194
            eye disease 3727
              Eye Abnormalities 825
                microphthalmia 228
                  nanophthalmos 5
                    Nanophthalmos 2 2
paths to the root