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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:Isolated Microphthalmia with Cataract 1
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Accession:DOID:9002541 term browser browse the term
Synonyms:exact_synonym: CATM;   MCOPCT1;   congenital cataract with microphthalmia
 primary_id: MESH:C563582
 alt_id: MIM:156850


show annotations for term's descendants           Sort by:
Isolated Microphthalmia with Cataract 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 1 ClinVar PMID:9497259 PMID:10362609 PMID:12800976 PMID:16604058 PMID:19073179 More... NCBI chr 2:187,179,668...187,181,284
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        lens disease 556
          cataract 545
            Isolated Microphthalmia with Cataract 1 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              Eye Abnormalities 814
                microphthalmia 229
                  isolated microphthalmia 105
                    Isolated Microphthalmia with Cataract 1 1
paths to the root