FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term autosomal recessive hypophosphatemic rickets ID (Ontology) DOID:0050949 (Human Disease)
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.
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autosomal genetic disease
 |__autosomal recessive disease__
bone remodeling disease          |
 |__rickets______________________|
                                 autosomal recessive hypophosphatemic rickets
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Is a autosomal recessive disease
rickets
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MIM:241520
MIM:613312
ORDO:289176