Ehlers-Danlos syndrome, arthrochalasia type, 2
MONDO:0040501Mondo
Findings
No curated finding names Ehlers-Danlos syndrome, arthrochalasia type, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hip dislocationHPOHP:0002827
- 1 of 1 reported patient · Congenital onset
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient · Congenital onset
Genes
1 gene
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.
- COL1A2HGNC:2198
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
5 names
Resolves to: Ehlers-Danlos syndrome, arthrochalasia type, 2
- Also called
- EDS 7BEDS VIIBEDSARTH2Ehlers-Danlos syndrome type 7BEhlers-Danlos syndrome, type VIIb, autosomal dominant