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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;   BCOR-RELATED DISORDER;   MAA2;   MCOPS2;   Marashi Gorlin syndrome;   OFCD syndrome;   cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome;   cataracts, microphthalmia, radiculomegaly and septal heart defects;   oculo facio cardio dental syndrome;   oculofaciocardiodental syndrome;   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 Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
OMIM
CTD
ClinVar
PMID:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 More... NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital heart disease 1140
        heart septal defect 152
          syndromic microphthalmia 2 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            Eye Abnormalities 458
              microphthalmia 116
                syndromic microphthalmia 64
                  syndromic microphthalmia 2 2
paths to the root