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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:Brachycephalofrontonasal Dysplasia
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Accession:DOID:9006500 term browser browse the term
Synonyms:exact_synonym: Hypertelorism, Teebi type;   Teebi hypertelorism syndrome
 primary_id: MESH:C537085
 alt_id: OMIM:145420
For additional species annotation, visit the Alliance of Genome Resources.


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Brachycephalofrontonasal Dysplasia 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: Brachycephalofrontonasal dysplasia
ClinVar Annotator: match by term: Hypertelorism, Teebi type
ClinVar
OMIM
PMID:17506099, PMID:25412741, PMID:25741868, PMID:25741869, PMID:26111080, PMID:28492532 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 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        Musculoskeletal Abnormalities 1777
          Craniofacial Abnormalities 1475
            Hypertelorism 118
              Brachycephalofrontonasal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Musculoskeletal Abnormalities 1777
            Craniofacial Abnormalities 1475
              Hypertelorism 118
                Brachycephalofrontonasal Dysplasia 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.