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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:Keutel Syndrome
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Accession:DOID:9002991 term browser browse the term
Synonyms:exact_synonym: KTLS;   Pulmonic stenosis, brachytelephalangism, and calcification of cartilages
 primary_id: MESH:C536167
 alt_id: OMIM:245150
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Keutel Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgp matrix Gla protein ISO DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keutel syndrome
OMIM
CTD
ClinVar
RGD
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 More... RGD:1600783 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    syndrome 9805
      Keutel Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18203
    Developmental Disease 13119
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11888
        Congenital Abnormalities 6833
          Musculoskeletal Abnormalities 2836
            Congenital Limb Deformities 657
              Congenital Upper Extremity Deformities 126
                Congenital Hand Deformities 98
                  Keutel Syndrome 1
paths to the root