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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
 primary_id: MESH:C567932
 alt_id: DOID:0050780;   OMIM:300000
 xref: GARD:193;   NCI:C125487
For additional species annotation, visit the Alliance of Genome Resources.


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Opitz GBBB syndrome 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 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 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS ClinVar PMID:25741868 PMID:30472488 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    physical disorder 5116
      hypospadias 85
        Opitz GBBB syndrome 2
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        Congenital Abnormalities 7481
          Musculoskeletal Abnormalities 3381
            Craniofacial Abnormalities 2714
              Maxillofacial Abnormalities 290
                Jaw Abnormalities 244
                  orofacial cleft 139
                    cleft palate 108
                      Opitz GBBB syndrome 2
paths to the root