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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:10069716, PMID:12116202, PMID:14608648, PMID:15004558, PMID:15770227, PMID:16829040, PMID:17517692, PMID:18414213, PMID:19367324, PMID:19578371, PMID:21740180, PMID:22005280, PMID:22486321, PMID:22983184, PMID:23557072, PMID:23815237, PMID:24728327, PMID:25326637, PMID:25337074, PMID:25620158, PMID:25741868, PMID:26196063, PMID:26539891, 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 16103
    Developmental Diseases 9506
      congenital heart disease 1073
        heart septal defect 151
          syndromic microphthalmia 2 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            Eye Abnormalities 363
              microphthalmia 98
                syndromic microphthalmia 20
                  syndromic microphthalmia 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.