hereditary disorder of connective tissue
MONDO:0023603Mondo
Findings
No curated finding names hereditary disorder of connective tissue yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
Definition from the Mondo Disease Ontology (MONDO:0023603), read 2026-09-29. CC BY 4.0.
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.
- PMEPA1HGNC:14107
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (87)
- acquired polycythemia vera
- acroosteolysis dominant type
- aneurysmal bone cyst
- arterial tortuosity syndrome
- autoimmune interstitial lung disease-arthritis syndrome
- autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- autosomal recessive inherited pseudoxanthoma elasticum
- Blau syndrome
- bone fragility with contractures, arterial rupture, and deafness
- brittle cornea syndrome
- camptodactyly-arthropathy-coxa vara-pericarditis syndrome
- cherubism
- CHILD syndrome
- chondrocalcinosis 2
- chondrosarcoma
- chronic myeloid leukemia
- chronic recurrent multifocal osteomyelitis
Other names
3 names
Resolves to: hereditary disorder of connective tissue
- Also called
- connective tissue hereditary disorderhereditary connective tissue disorderMendelian connective tissue disorder