Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Disease ID: disease_node_19118
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:7111, MIM:618469, ORDO:2990 |
|---|---|
| Subclassof | DOID_0080110, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Autosomal recessive multiple pterygium syndrome |
| Doid Label | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19118 |
| Doid Id | DOID_0081322 |
| Label | Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)