Ehlers-Danlos syndrome
MONDO:0020066Mondo
Findings
No curated finding names Ehlers-Danlos syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
Definition from the Mondo Disease Ontology (MONDO:0020066), read 2026-09-29. CC BY 4.0.
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL5A1HGNC:2209
- Definitive · G2P · Autosomal dominant · 2018
- COL5A2HGNC:2210
- Definitive · G2P · Autosomal dominant · 2018
- TNXBHGNC:11976
- Definitive · G2P · Autosomal recessive · 2018
- ADAMTSL2HGNC:14631
- Limited · Ambry Genetics · Autosomal dominant · 2018
- ATP6V0D2HGNC:18266
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- Narrower terms (25)
- Bethlem myopathy 2
- brittle cornea syndrome
- COL1A1-related Ehlers-Danlos syndrome
- COL1A2-related Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome due to tenascin-X deficiency
- Ehlers-Danlos syndrome, arthrochalasia type
- Ehlers-Danlos syndrome, autosomal dominant, type unspecified
- Ehlers-Danlos syndrome, Beasley-Cohen type
- Ehlers-Danlos syndrome, classic type
- Ehlers-Danlos syndrome, classic-like, 2
- Ehlers-Danlos syndrome, classic-like, 3
- Ehlers-Danlos syndrome, dermatosparaxis type
- Ehlers-Danlos syndrome, fibronectinemic type
- Ehlers-Danlos syndrome, hypermobility type
- Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Other names
18 names
Resolves to: Ehlers-Danlos syndrome
- Also called
- Danlos diseaseDanlos Disease, Ehlersdanlos ehlers syndromeDisease, Ehlers DanlosDisease, Ehlers-DanlosDystrophia mesodermalis congenitaEDSEhler Danlos SyndromeEhlers Danlos DiseaseEhlers Danlos SyndromeEhlers-Danlos DiseaseEhlers-Danlos syndromeselastic skinFibrodysplasia elastica generalisataHereditary collagen dysplasiaMeekeren-Ehlers-Danlos syndrome