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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;   RDO:0001634
For additional species annotation, visit the Alliance of Genome Resources.


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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)
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:245150
ClinVar Annotator: match by term: Keutel syndrome
OMIM
ClinVar
CTD
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532, PMID:9916809 RGD:1600783 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Keutel Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Musculoskeletal Abnormalities 1781
            Congenital Limb Deformities 504
              Congenital Upper Extremity Deformities 92
                Congenital Hand Deformities 76
                  Keutel Syndrome 1
paths to the root