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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 the BCOR gene on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: ANOP2;   BCOR-RELATED CONDITION;   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: MIM:300166
 xref: GARD:4628;   ORDO:2712


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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
ISS		 CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM:300166
ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: BCOR-related disorder | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:17517692 More... RGD:1600504 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 19050
    Developmental Disease 14522
      congenital heart disease 1385
        heart septal defect 221
          syndromic microphthalmia 2 2
Path 2
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7255
            eye disease 3731
              Eye Abnormalities 810
                microphthalmia 229
                  syndromic microphthalmia 90
                    syndromic microphthalmia 2 2
paths to the root