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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: OMIM: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 IAGP ClinVar Annotator: match by term: Nanophthalmia ClinVar PMID:25412400 PMID:25741868 PMID:26583794 PMID:28492532 PMID:29170418 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 ClinVar Annotator: match by term: Nanophthalmia ClinVar PMID:25412400 PMID:25741868 PMID:26583794 PMID:28492532 PMID:29170418 More... NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G MYRF myelin regulatory factor IAGP DNA:mutations:cds: RGD PMID:31048900 RGD:197810045 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G PRSS56 serine protease 56 IAGP ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 More... NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		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 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
CTD
OMIM		 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
Nanophthalmos 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM98 transmembrane protein 98 IAGP
EXP		 ClinVar Annotator: match by term: Nanophthalmos 4
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:24852644 PMID:26392740 NCBI chr17:32,928,153...32,944,315
Ensembl chr17:32,927,910...32,945,106 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      eye disease 4942
        microphthalmia 263
          nanophthalmos 5
            Nanophthalmos 1 1
            Nanophthalmos 2 2
            Nanophthalmos 3 0
            Nanophthalmos 4 1
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            eye disease 4942
              Eye Abnormalities 1014
                microphthalmia 263
                  nanophthalmos 5
                    Nanophthalmos 1 1
                    Nanophthalmos 2 2
                    Nanophthalmos 3 0
                    Nanophthalmos 4 1
paths to the root