hypophosphatemic rickets, autosomal recessive, 1
MONDO:0009430Mondo
Findings
No curated finding names hypophosphatemic rickets, autosomal recessive, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009430), 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.
- DMP1HGNC:2932
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: hypophosphatemic rickets, autosomal recessive, 1
- Also called
- autosomal recessive hypophosphatemic rickets caused by mutation in DMP1DMP1 autosomal recessive hypophosphatemic ricketshypophosphatemic rickets, ARhypophosphatemic rickets, autosomal recessive, type 1