WormBase Tree Display for DO_term: DOID:0081321
expand all nodes | collapse all nodes | view schema
DOID:0081321 | Name | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | |||
---|---|---|---|---|---|
Status | Valid | ||||
Definition | A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. | ||||
Synonym | Exact | Autosomal dominant multiple pterygium syndrome | |||
Parent | Is_a | DOID:0050736 | |||
DOID:0080110 | |||||
DB_info | Database | OMIM | disease | 178110 | |
Attribute_of | Gene_by_orthology | WBGene00002348 | |||
WBGene00003514 | |||||
WBGene00003515 | |||||
WBGene00006789 | |||||
WBGene00009730 | |||||
WBGene00019064 |