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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:syndromic microphthalmia 11
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Accession:DOID:0111804 term browser browse the term
Definition:A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. (DO)
Synonyms:exact_synonym: MCOPS11
 primary_id: OMIM:614402


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syndromic microphthalmia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VAX1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr28:27,624,699...27,628,736
Ensembl chr28:27,623,971...27,628,717 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      eye disease 3363
        microphthalmia 207
          syndromic microphthalmia 76
            syndromic microphthalmia 11 1
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            eye disease 3363
              Eye Abnormalities 774
                microphthalmia 207
                  syndromic microphthalmia 76
                    syndromic microphthalmia 11 1
paths to the root