autosomal recessive hypophosphatemic rickets

Term ID

DOID:0050949

Synonyms

Definition

A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (2)

References

• OMIM:241520
• OMIM:613312
• ORDO:289176

Ontology

Human Disease   ( DOID:0050949 )