Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      Congenital Foot Deformities 67
        Eiken syndrome 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        Congenital Abnormalities 5557
          Musculoskeletal Abnormalities 2220
            Congenital Limb Deformities 455
              Lower Extremity Deformities, Congenital 76
                Congenital Foot Deformities 67
                  Eiken syndrome 1
paths to the root