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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:Opitz GBBB syndrome type I
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Accession:DOID:0080697 term browser browse the term
Definition:An Opitz-GBBB syndrome that has_material_basis_in mutation in the MID1 gene on Xp22. (DO)
Synonyms:exact_synonym: BBBG1;   GBBB1;   OGS1;   OS;   OSX;   Opitz BBBG syndrome, type I;   Opitz GBBB syndrome, X-linked;   Opitz Syndrome;   Opitz-G syndrome, type I;   X-linked Opitz syndrome;   X-linked Opitz syndrome (XLOS)
 primary_id: MESH:C567932
 alt_id: OMIM:300000
For additional species annotation, visit the Alliance of Genome Resources.


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Opitz GBBB syndrome type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
ClinVar Annotator: match by term: Opitz GBBB syndrome, type I
OMIM
ClinVar
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Opitz-GBBB syndrome 2
        Opitz GBBB syndrome type I 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  orofacial cleft 129
                    cleft palate 95
                      Opitz GBBB syndrome type I 1
paths to the root