WormBase Tree Display for DO_term: DOID:0080979
expand all nodes | collapse all nodes | view schema
DOID:0080979 | Name | arthrogryposis multiplex congenita-3 | |||
---|---|---|---|---|---|
Status | Valid | ||||
Definition | An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. | ||||
Parent | Is_a | DOID:0080954 | |||
DB_info | Database | OMIM | disease | 618484 | |
Attribute_of | Gene_by_orthology | WBGene00000140 |