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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:614402
ClinVar Annotator: match by term: Microphthalmia, syndromic 11
OMIM
ClinVar
PMID:22095910 PMID:28492532 NCBI chr 1:280,334,897...280,338,813
Ensembl chr 1:280,334,897...280,338,813
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        microphthalmia 98
          syndromic microphthalmia 20
            syndromic microphthalmia 11 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            Eye Abnormalities 365
              microphthalmia 98
                syndromic microphthalmia 20
                  syndromic microphthalmia 11 1
paths to the root