OBO ID: DOID:0080737
Term Name: Ehlers-Danlos syndrome musculocontractural type 2 Search Ontology:
Synonyms:
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. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:
Ontology: Human Disease   (DOID:0080737)
OTHER Ehlers-Danlos syndrome musculocontractural type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DSE Ehlers-Danlos syndrome, musculocontractural type 2 615539
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None