Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Disease ID: disease_node_19119
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| Dbxref | MIM:178110, ORDO:65743 |
|---|---|
| Subclassof | DOID_0080110, DOID_0050736 |
| Data Source | DOID |
| Synonyms | Autosomal dominant multiple pterygium syndrome |
| Doid Label | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19119 |
| Doid Id | DOID_0081321 |
| Label | Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)