SFTPC-related interstitial lung disease
MONDO:0018603Mondo
Findings
No curated finding names SFTPC-related interstitial lung disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- SFTPCHGNC:10802
- Definitive · ClinGen · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: SFTPC-related interstitial lung disease
- Also called
- interstitial lung disease due to SP-C deficiencySFTPC-related ILD