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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:Eiken syndrome
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Accession:DOID:0111732 term browser browse the term
Definition:A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)
Synonyms:exact_synonym: Eiken skeletal dysplasia;   bone modeling defect of hands and feet
 primary_id: MESH:C564010
 alt_id: OMIM:600002
 xref: ORDO:79106


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Eiken syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH1R parathyroid hormone 1 receptor IAGP
EXP		 DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
ClinVar Annotator: match by term: Eiken syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome		 ClinVar
OMIM
CTD
RGD		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      Congenital Foot Deformities 219
        Eiken syndrome 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        Congenital Abnormalities 14120
          Musculoskeletal Abnormalities 5236
            Congenital Limb Deformities 1411
              Lower Extremity Deformities, Congenital 228
                Congenital Foot Deformities 219
                  Eiken syndrome 1
paths to the root