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Disease Ontology Browser
Eiken syndrome (DOID:0111732)
Alliance: disease page
Synonyms: bone modeling defect of hands and feet; Eiken skeletal dysplasia
Alt IDs: OMIM:600002, MESH:C564010, ORDO:79106, UMLS_CUI:C1838779
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
02/13/2024
MGI 6.23
The Jackson Laboratory