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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:15558842, PMID:17221865, PMID:18360914, PMID:18949047, PMID:21326312, PMID:23757202, PMID:25207814, PMID:25741868, PMID:25874572, PMID:26064728, PMID:26788540, PMID:28492532 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Opitz-GBBB syndrome 2
        Opitz GBBB syndrome type I 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    cleft palate 96
                      Opitz GBBB syndrome type I 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.