ALPL-related autosomal recessive hypophosphatasia
MONDO:0100609Mondo
Findings
No curated finding names ALPL-related autosomal recessive 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 an autosomal recessive loss-of-function in the ALPL gene.
Definition from the Mondo Disease Ontology (MONDO:0100609), 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 recessive · 2021
Where it sits
- Narrower terms (2)