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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:Teebi hypertelorism syndrome 1
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Accession:DOID:0080698 term browser browse the term
Definition:A Teebi hypertelorism 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 type II;   Opitz GBBB syndrome, autosomal dominant;   Opitz oculogenitolaryngeal syndrome, type II;   Opitz-Frias syndrome;   Opitz-G syndrome, type 2;   Opitz-G syndrome, type II;   SPECC1L-related hypertelorism syndrome;   TBHS1;   autosomal dominant Opitz syndrome (ADOS);   chromosome 22q11.2 deletion syndrome, Opitz phenotype;   telecanthus with associated abnormalities
 primary_id: MESH:C538387;   OMIM:145420
 alt_id: DOID:9003103
 xref: ORDO:1519
For additional species annotation, visit the Alliance of Genome Resources.



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Teebi hypertelorism syndrome 1 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-Frias syndrome 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: Teebi hypertelorism syndrome 1 ClinVar
OMIM
PMID:3228142 PMID:25412741 PMID:25741868 PMID:30472488 PMID:31953237 More... 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 18256
    syndrome 9802
      Teebi hypertelorism syndrome 3
        Teebi hypertelorism syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        Congenital Abnormalities 6831
          Musculoskeletal Abnormalities 2836
            Congenital Limb Deformities 657
              Congenital Upper Extremity Deformities 126
                Congenital Hand Deformities 98
                  Teebi hypertelorism syndrome 3
                    Teebi hypertelorism syndrome 1 2
paths to the root