Ehlers-Danlos syndrome
cv_term_accession
KW-0248
canonical
uniprot_keyword
KW-0248
canonical
name
Ehlers-Danlos syndrome
uniprot
synonym
EDS
uniprot
definition
Protein which, if defective, causes Ehlers-Danlos syndrome (EDS), a genetically and phenotypically heterogeneous group of connective- tissue disorders. It affects primarily the skin, ligaments, joints, and blood vessels. Typical features include skin hyperextensibility, joint hypermobility, easy bruisability, friability of tissues with bleeding and poor wound healing. Inheritance can be autosomal dominant, autosomal recessive, or X-linked recessive.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords