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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 2
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Accession:DOID:0060839 term browser browse the term
Definition:An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: MCOP2;   isolated clinical anophthalmia
 broad_synonym: VSX2-RELATED CONDITION
 primary_id: MESH:C566446
 alt_id: OMIM:610093


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isolated microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:77,429,970...77,514,217
Ensembl chr14:96,756,397...96,831,954 		JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:11341888 PMID:15257456 PMID:16199547 More... NCBI chr14:54,797,734...54,821,081 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      eye disease 3375
        microphthalmia 204
          isolated microphthalmia 101
            isolated microphthalmia 2 2
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6624
            eye disease 3375
              Eye Abnormalities 771
                microphthalmia 204
                  isolated microphthalmia 101
                    isolated microphthalmia 2 2
paths to the root