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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 chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3378363 PMID:10932181 PMID:11341888 PMID:15257456 PMID:16199547 More... NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        microphthalmia 214
          isolated microphthalmia 104
            isolated microphthalmia 2 2
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              Eye Abnormalities 778
                microphthalmia 214
                  isolated microphthalmia 104
                    isolated microphthalmia 2 2
paths to the root