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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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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 chr 1:110,717,909...110,720,454
Ensembl chr 1:110,718,294...110,719,361 		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 chr 1:110,720,520...110,728,529
Ensembl chr 1:110,720,530...110,725,483 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15412
    sensory system disease 6937
      eye disease 3573
        microphthalmia 220
          nanophthalmos 5
            Nanophthalmos 2 2
Path 2
Term Annotations click to browse term
  disease 15412
    Pathological Conditions, Signs and Symptoms 12056
      Signs and Symptoms 10132
        Neurologic Manifestations 9810
          sensory system disease 6937
            eye disease 3573
              Eye Abnormalities 803
                microphthalmia 220
                  nanophthalmos 5
                    Nanophthalmos 2 2
paths to the root