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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 TNF related 5 IAGP ClinVar Annotator: match by term: Nanophthalmos 2 ClinVar PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G MFRP membrane frizzled-related protein IAGP
EXP		 ClinVar Annotator: match by term: Nanophthalmos 2
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    sensory system disease 26548
      eye disease 10397
        microphthalmia 282
          nanophthalmos 5
            Nanophthalmos 2 2
Path 2
Term Annotations click to browse term
  disease 145369
    Pathological Conditions, Signs and Symptoms 69045
      Signs and Symptoms 45355
        Neurologic Manifestations 37765
          sensory system disease 26548
            eye disease 10397
              Eye Abnormalities 1057
                microphthalmia 282
                  nanophthalmos 5
                    Nanophthalmos 2 2
paths to the root