Disease Information for Ehlers-Danlos syndrome: Disease Mechanism & Classification

Ads
Specific Agent
Pathophysiology/COL3A1 Gene Mutation
Pathophysiology/COL5A Gene Mutation
Class
CLASS/Pediatric disorders (ex)
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Skin disorder (ex)
CLASS/Ligament involvement/disorder (ex)
CLASS/Connective tissue/Mesenchyme matrix disorder
CLASS/Tissue/cells/organelles/collagen (category)
Pathophysiology
Pathophysiology/Dominant and Autosomal recessive variants
Pathophysiology/Gene locus 1p36.3-p36.2
Pathophysiology/Gene locus 2q34
Pathophysiology/Gene locus 5q23
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene locus Chromosome 2
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Great vessels rupture/tear
Pathophysiology/Vascular Wall Defects
Pathophysiology/Small bowel bleeding source/adults
Pathophysiology/Osteoporosis Secondary
Pathophysiology/Abnormal collagen formation
Pathophysiology/COL1A1 Gene Mutation
Pathophysiology/COL1A2 Gene mutation
Pathophysiology/Eight subtypes described (overlap)
Pathophysiology/Elastin tissue defect
Pathophysiology/Extracellular matrix disorder
Pathophysiology/Fibrinonectin dysfunction
Pathophysiology/Lysyl hydroxylase deficiency
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Disease with many subtypes (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Subsets/Variable dominance/sex linkage
PROCESS/Variant expressions/Subsets (ex)
Ads