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autosomal recessive hypophosphatemic rickets

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0017324:  autosomal recessive hypophosphatemic rickets
Orphanet:289176: 
SCTID:90505000: 
UMLS:CN202957: