| Metadata | |
|---|---|
| ID | DOID:0111732 |
| Name | Eiken syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/6734674 |
| Xrefs |
SNOMEDCT_US_2023_03_01:720863002 |
| Subsets |
DO_rare_slim |
| Synonyms |
bone modeling defect of hands and feet [EXACT] Eiken skeletal dysplasia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |