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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


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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 | ClinVar Annotator: match by term: Pulmonic stenosis brachytelephalangism and calcification of cartilages		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Keutel Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 185
                  Keutel Syndrome 1
paths to the root