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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 2
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Accession:DOID:0111809 term browser browse the term
Definition:A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: ANOP2;   MAA2;   MCOPS2;   Marashi Gorlin syndrome;   OFCD syndrome;   Oculo facio cardio dental syndrome;   Oculofaciocardiodental syndrome;   cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome;   cataracts, microphthalmia, radiculomegaly and septal heart defects;   syndromic microphthalmia type 2
 primary_id: MESH:C537465
 alt_id: OMIM:300166
 xref: GARD:4628;   ORDO:2712
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by OMIM:300166
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
OMIM
ClinVar
CTD
PMID:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 PMID:19367324 PMID:21740180 PMID:22983184 PMID:23815237 PMID:24728327 PMID:25326637 PMID:25620158 PMID:25741868 PMID:26694549 PMID:28317252 PMID:28492532 PMID:29058245 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital heart disease 1057
        heart septal defect 126
          syndromic microphthalmia 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Eye Abnormalities 353
              microphthalmia 95
                syndromic microphthalmia 20
                  syndromic microphthalmia 2 1
paths to the root