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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 the RARB gene 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


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syndromic microphthalmia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NGLY1 N-glycanase 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12 ClinVar PMID:24651605 PMID:28492532 NCBI chr13:12,616,564...12,683,637
Ensembl chr13:12,616,567...12,685,823 		JBrowse link
G RARB retinoic acid receptor beta ISO ClinVar Annotator: match by term: MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND/OR CARDIAC DEFECTS | ClinVar Annotator: match by term: Microphthalmia, syndromic 12 OMIM
ClinVar		 PMID:14973393 PMID:16199547 PMID:17506106 PMID:24075189 PMID:24651605 More... NCBI chr13:12,336,387...12,507,688
Ensembl chr13:12,336,972...12,507,680 		JBrowse link
G TOP2B DNA topoisomerase II beta ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12 ClinVar PMID:24651605 PMID:28492532 NCBI chr13:12,507,738...12,575,042
Ensembl chr13:12,507,138...12,575,583 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        microphthalmia 206
          syndromic microphthalmia 76
            syndromic microphthalmia 12 3
Path 2
Term Annotations click to browse term
  disease 17415
    Pathological Conditions, Signs and Symptoms 11801
      Signs and Symptoms 9739
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              Eye Abnormalities 760
                microphthalmia 206
                  syndromic microphthalmia 76
                    syndromic microphthalmia 12 3
paths to the root