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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
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Accession:DOID:0081073 term browser browse the term
Definition:A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. (DO)
Synonyms:exact_synonym: Hypertelorism, Teebi type;   Teebi Syndrome;   brachycephalofrontonasal dysplasia
 primary_id: MESH:C536951
 alt_id: DOID:9006500;   DOID:9007841
 xref: GARD:957;   MIM:PS145420;   ORDO:2745


show annotations for term's descendants           Sort by:
Teebi hypertelorism syndrome 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: Teebi hypertelorism syndrome ClinVar PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 More... NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
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		 ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1
OMIM:145420
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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
Teebi hypertelorism syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33811546 NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    syndrome 11180
      Teebi hypertelorism syndrome 3
        Teebi hypertelorism syndrome 1 2
        Teebi hypertelorism syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13629
        Congenital Abnormalities 7761
          Musculoskeletal Abnormalities 3418
            Congenital Limb Deformities 1060
              Congenital Upper Extremity Deformities 229
                Congenital Hand Deformities 200
                  Teebi hypertelorism syndrome 3
                    Teebi hypertelorism syndrome 1 2
                    Teebi hypertelorism syndrome 2 1
paths to the root