brachydactyly type E2
MONDO:0013244Mondo
Findings
No curated finding names brachydactyly type E2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.
Definition from the Mondo Disease Ontology (MONDO:0013244), 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.
- PTHLHHGNC:9607
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: brachydactyly type E2
- Also called
- BDE2brachydactyly type E caused by mutation in PTHLHPTHLH brachydactyly type E