ALPL-related autosomal dominant hypophosphatasia
MONDO:0100608Mondo
Findings
No curated finding names ALPL-related autosomal dominant hypophosphatasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypophosphatasia in which the cause of the disease is a variant with a dominant negative effect or haploinsufficiency in the ALPL gene.
Definition from the Mondo Disease Ontology (MONDO:0100608), 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.
- ALPLHGNC:438
- Definitive · ClinGen · Autosomal dominant · 2021
Where it sits
- Narrower terms (1)