WormBase Tree Display for DO_term: DOID:0111732
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| DOID:0111732 | Name | Eiken syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | Eiken skeletal dysplasia | |||
| bone modeling defect of hands and feet | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0080006 | |||||
| DB_info | Database | OMIM | disease | 600002 | |
| Attribute_of | Gene_by_orthology | WBGene00015735 |
