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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
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Accession:DOID:0080697 term browser browse the term
Definition:A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: BBBG1;   GBBB syndrome;   GBBB1;   OGS1;   OS;   OSX;   Opitz BBB-G syndrome;   Opitz BBBG syndrome;   Opitz BBBG syndrome, type I;   Opitz G/BBB syndrome;   Opitz GBBB syndrome type I;   Opitz GBBB syndrome, X-linked;   Opitz Syndrome;   Opitz-G syndrome, type I;   X-linked Opitz syndrome;   X-linked Opitz syndrome (XLOS);   hypertelorism with esophageal abnormalities and hypospadias;   hypertelorism with esophageal abnormality and hypospadias;   hypertelorism-hypospadias sydrome;   telecanthus-hypospadias syndrome
 broad_synonym: MID1-related condition
 alt_id: DOID:0050780
 xref: GARD:193;   MESH:C567932;   MIM:300000;   MONDO:0017138;   NCI:C125487



show annotations for term's descendants           Sort by:
Opitz GBBB syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:300000
ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM
CTD
MouseDO
ClinVar
PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chr  X:27,678,248...28,053,049
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 19142
    physical disorder 5200
      hypospadias 86
        Opitz GBBB syndrome 1
Path 2
Term Annotations click to browse term
  disease 19142
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13716
        Congenital Abnormalities 7890
          Musculoskeletal Abnormalities 3456
            Craniofacial Abnormalities 2781
              Maxillofacial Abnormalities 315
                Jaw Abnormalities 269
                  orofacial cleft 160
                    cleft palate 118
                      Opitz GBBB syndrome 1
paths to the root