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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_004624784:14,707,453...14,709,609
Ensembl chrNW_004624784:14,707,453...14,708,954
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_004624784:14,709,834...14,714,927
Ensembl chrNW_004624784:14,710,042...14,714,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14231
    sensory system disease 6541
      eye disease 3377
        microphthalmia 216
          nanophthalmos 5
            Nanophthalmos 2 2
Path 2
Term Annotations click to browse term
  disease 14231
    Pathological Conditions, Signs and Symptoms 11249
      Signs and Symptoms 9474
        Neurologic Manifestations 9181
          sensory system disease 6541
            eye disease 3377
              Eye Abnormalities 762
                microphthalmia 216
                  nanophthalmos 5
                    Nanophthalmos 2 2
paths to the root