| Metadata | |
|---|---|
| ID | DOID:0081322 |
| Name | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B |
| 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. https://pubmed.ncbi.nlm.nih.gov/29805041/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Autosomal recessive multiple pterygium syndrome [EXACT] |
| Parent Relationships |
is_a contractures, pterygia, and spondylocarpotarsal fusion syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |