ZFIN Human Disease: Ehlers-Danlos syndrome musculocontractural type 2

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:	OMIM:615539
Ontology:	Human Disease ( DOID:0080737 )

Relationships

is a type of:	autosomal recessive disease Ehlers-Danlos syndrome autosomal recessive disease Ehlers-Danlos syndrome Show first 5 Terms

OTHER Ehlers-Danlos syndrome musculocontractural type 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DSE	dse	Ehlers-Danlos syndrome, musculocontractural type 2	615539

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None