Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Ehlers-Danlos syndrome musculocontractural type 2
Summary
- Definition
- An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080737
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
| HP:0000365 | Hearing impairment |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000400 | Macrotia |
| HP:0000411 | Protruding ear |
| HP:0000483 | Astigmatism |
| HP:0000486 | Strabismus |
