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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 12
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Accession:DOID:0111800 term browser browse the term
Definition:A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2. (DO)
Synonyms:exact_synonym: MCOPS12;   Microphthalmia with or without Pulmonary Hypoplasia, Diaphragmatic Hernia, and/or Cardiac Defects
 primary_id: OMIM:615524
 xref: GARD:13235
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic microphthalmia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by OMIM:615524
ClinVar Annotator: match by term: Microphthalmia, syndromic 12
OMIM
ClinVar
PMID:24075189 PMID:25741868 PMID:27120018 PMID:28492532 NCBI chr14:16,430,839...17,082,331
Ensembl chr14:16,430,839...16,819,156
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13461
    sensory system disease 5111
      eye disease 2699
        microphthalmia 98
          syndromic microphthalmia 24
            syndromic microphthalmia 12 1
Path 2
Term Annotations click to browse term
  disease 13461
    disease of anatomical entity 12946
      nervous system disease 10511
        sensory system disease 5111
          eye disease 2699
            Eye Abnormalities 378
              microphthalmia 98
                syndromic microphthalmia 24
                  syndromic microphthalmia 12 1
paths to the root