connective tissue disorder
MONDO:0003900Mondo
Findings
No curated finding names connective tissue disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disease involving the connective tissue.
Definition from the Mondo Disease Ontology (MONDO:0003900), read 2026-09-29. CC BY 4.0.
Genes
8 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.
- ABL1HGNC:76
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- ACTA2HGNC:130
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- DCCHGNC:2701
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- MYLKHGNC:7590
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- NOTCH1HGNC:7881
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- PIEZO2HGNC:26270
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- MYADML2HGNC:34548
- Limited · PanelApp Australia · Autosomal recessive · 2025
- P4HA1HGNC:8546
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (16)
- ainhum
- benign connective and soft tissue neoplasm
- collagenopathy
- connective tissue neoplasm
- disease of the tendon
- enthesopathy
- fasciitis
- hereditary disorder of connective tissue
- interstitial cystitis
- interstitial keratitis
- ochronosis disorder
- overlapping connective tissue disease
- panniculitis
- periostitis
- rheumatic disorder
- synovitis
Other names
10 names
Resolves to: connective tissue disorder
- Also called
- connective tissue diseaseconnective tissue disease or disorderconnective tissue diseasesconnective tissue disordersdisease of connective tissuedisease or disorder of connective tissuedisease, connective tissuedisorder of connective tissueprimary disorder of connective tissuetissue disease, connective