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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 ClinVar Annotator: match by OMIM:600002
DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
ClinVar Annotator: match by term: Eiken skeletal dysplasia
ClinVar
OMIM
PMID:15525660, PMID:25741868, PMID:29987841, PMID:15525660 RGD:12910707 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Eiken syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Musculoskeletal Abnormalities 1755
            Congenital Limb Deformities 503
              Lower Extremity Deformities, Congenital 129
                Congenital Foot Deformities 121
                  Eiken syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.