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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
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Accession:DOID:0080634 term browser browse the term
Definition:A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. (DO)
Synonyms:exact_synonym: nanophthalmia
 xref: MIM:PS600165;   ORDO:35612


show annotations for term's descendants           Sort by:
nanophthalmos 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: Nanophthalmia ClinVar PMID:25412400 PMID:25741868 PMID:26583794 PMID:28492532 PMID:29170418 More... NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Nanophthalmia ClinVar PMID:25412400 PMID:25741868 PMID:26583794 PMID:28492532 PMID:29170418 More... NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Myrf myelin regulatory factor ISO DNA:mutations:cds: RGD PMID:31048900 RGD:197810045 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 More... NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
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 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		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 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
Nanophthalmos 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem98 transmembrane protein 98 ISO ClinVar Annotator: match by term: Nanophthalmos 4 OMIM
ClinVar		 PMID:24852644 PMID:26392740 NCBI chr10:65,796,173...65,807,082
Ensembl chr10:65,796,145...65,807,079 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        microphthalmia 229
          nanophthalmos 5
            Nanophthalmos 1 1
            Nanophthalmos 2 2
            Nanophthalmos 3 0
            Nanophthalmos 4 1
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              Eye Abnormalities 814
                microphthalmia 229
                  nanophthalmos 5
                    Nanophthalmos 1 1
                    Nanophthalmos 2 2
                    Nanophthalmos 3 0
                    Nanophthalmos 4 1
paths to the root