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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 II
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Accession:DOID:0080698 term browser browse the term
Definition:An Opitz-GBBB syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. (DO)
Synonyms:exact_synonym: BBB syndrome;   G SYNDROME;   GBBB2;   Hypospadias-Dysphagia Syndrome;   OGS2;   Opitz BBB Syndrome;   Opitz G syndrome;   Opitz GBBB syndrome, autosomal dominant;   Opitz oculogenitolaryngeal syndrome, type II;   Opitz-Frias syndrome;   Opitz-G syndrome, type 2;   Opitz-G syndrome, type II;   autosomal dominant Opitz syndrome (ADOS);   chromosome 22q11.2 deletion syndrome, Opitz phenotype;   telecanthus with associated abnormalities
 primary_id: MESH:C538387
 alt_id: OMIM:145410
For additional species annotation, visit the Alliance of Genome Resources.


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Opitz GBBB syndrome type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type II OMIM
ClinVar
PMID:3228142, PMID:25412741, PMID:25741868 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Opitz-GBBB syndrome 2
        Opitz GBBB syndrome type II 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        Male Urogenital Diseases 1760
          male reproductive system disease 1760
            penile disease 52
              hypospadias 22
                Opitz-GBBB syndrome 2
                  Opitz GBBB syndrome type II 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.