Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 OMIM NCBI chrNW_004936473:16,983,829...17,146,517 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11994
    sensory system disease 4565
      eye disease 2342
        microphthalmia 87
          syndromic microphthalmia 20
            syndromic microphthalmia 12 1
Path 2
Term Annotations click to browse term
  disease 11994
    disease of anatomical entity 11557
      nervous system disease 9471
        sensory system disease 4565
          eye disease 2342
            Eye Abnormalities 325
              microphthalmia 87
                syndromic microphthalmia 20
                  syndromic microphthalmia 12 1
paths to the root