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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 PTHR1 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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ISO DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
ClinVar Annotator: match by term: Eiken syndrome
OMIM
ClinVar
RGD
PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      Congenital Foot Deformities 87
        Eiken syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Musculoskeletal Abnormalities 2678
            Congenital Limb Deformities 588
              Lower Extremity Deformities, Congenital 96
                Congenital Foot Deformities 87
                  Eiken syndrome 1
paths to the root