syndromic disease
MONDO:0002254Mondo
Findings
No curated finding names syndromic disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.
Definition from the Mondo Disease Ontology (MONDO:0002254), read 2026-09-29. CC BY 4.0.
Genes
22 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.
- FAT1HGNC:3595
- Strong · PanelApp Australia · Autosomal recessive · 2025
- FBRSL1HGNC:29308
- Strong · PanelApp Australia · Autosomal dominant · 2025
- FEM1BHGNC:3649
- Strong · PanelApp Australia · Autosomal dominant · 2025
- GPKOWHGNC:30677
- Strong · PanelApp Australia · X-linked · 2025
- MAP3K20HGNC:17797
- Strong · PanelApp Australia · Autosomal dominant · 2025
- MAXHGNC:6913
- Strong · PanelApp Australia · Autosomal dominant · 2025
- NR2F2HGNC:7976
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PAN2HGNC:20074
- Strong · PanelApp Australia · Autosomal recessive · 2025
- PLXNB2HGNC:9104
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SH2B3HGNC:29605
- Strong · PanelApp Australia · Autosomal recessive · 2025
- TRAP1HGNC:16264
- Strong · PanelApp Australia · Autosomal recessive · 2025
- USP14HGNC:12612
- Strong · PanelApp Australia · Autosomal recessive · 2025
- LGR4HGNC:13299
- Moderate · PanelApp Australia · Semidominant · 2025
- MCM7HGNC:6950
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- SHROOM3HGNC:30422
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- YKT6HGNC:16959
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- HGNC:20436HGNC:20436
- Limited · PanelApp Australia · Autosomal recessive · 2025
- MACROD2HGNC:16126
- Limited · PanelApp Australia · Autosomal dominant · 2025
- NFE2L1HGNC:7781
- Limited · PanelApp Australia · Autosomal dominant · 2025
- PROSER1HGNC:20291
- Limited · PanelApp Australia · Autosomal recessive · 2025
- UBE2UHGNC:28559
- Limited · PanelApp Australia · Autosomal dominant · 2025
- ZNF445HGNC:21018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (1,184)
- abdominal obesity-metabolic syndrome
- Achard syndrome
- Achenbach syndrome
- acute chest syndrome
- acute coronary syndrome
- acute respiratory distress syndrome
- alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- anterior spinal artery syndrome
- Barre-Lieou syndrome
- basilar artery insufficiency
- branchio-oto-renal syndrome
- Brown-Sequard syndrome
- burning mouth syndrome
- Capgras syndrome
- capillary leak syndrome
- cauda equina syndrome
- central sleep apnea syndrome
- compartment syndrome
- diffuse infiltrative lymphocytosis syndrome
- disappearing bone disease
- dry eye syndrome
- dumping syndrome
Other names
8 names
Resolves to: syndromic disease
- Also called
- cluster, symptomclusters, symptomsymptom clustersymptom clusterssyndromesyndrome associated with disease or disordersyndromessyndromic disease or disorder