Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Summary
- Synonym
-
- Autosomal dominant multiple pterygium syndrome
- 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.
- Super Class
- autosomal dominant disease contractures, pterygia, and spondylocarpotarsal fusion syndrome
External Links
- Disease Ontology
- DOID:0081321
- Mondo Disease Ontology
- ORDO
- OMIM
