WormBase Tree Display for DO_term: DOID:0081322
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| DOID:0081322 | Name | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. | ||||
| Synonym | Exact | Autosomal recessive multiple pterygium syndrome | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0080110 | |||||
| DB_info | Database | OMIM | disease | 618469 | |
| Attribute_of | Gene_by_orthology | WBGene00002348 | |||
| WBGene00003514 | |||||
| WBGene00003515 | |||||
| WBGene00006789 | |||||
| WBGene00009730 | |||||
| WBGene00019064 |
