Ehlers-Danlos syndrome classic type 1

Term ID

DOID:14720

Synonyms

• Ehlers-Danlos syndrome, type 1
• type I Ehlers-Danlos syndrome

Definition

An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/28306229/

References

• MESH:C536194
• NCI:C125696
• OMIM:130000
• SNOMEDCT_US_2023_03_01:83470009
• UMLS_CUI:C0268335

Ontology

Human Disease   ( DOID:14720 )