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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
 broad_synonym: SPECC1L-RELATED CONDITION
 primary_id: MESH:C538387;   OMIM:145420
 alt_id: DOID:9003103
 xref: ORDO:1519


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:145420
ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1		 OMIM
CTD
MouseDO
ClinVar		 PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 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 18969
    syndrome 10888
      Teebi hypertelorism syndrome 3
        Teebi hypertelorism syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        Congenital Abnormalities 7578
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 185
                  Teebi hypertelorism syndrome 3
                    Teebi hypertelorism syndrome 1 2
paths to the root