Metadata | |
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ID | DOID:0050949 |
Name | autosomal recessive hypophosphatemic rickets |
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. http://www.omim.org/entry/241520?search=241520&highlight=241520, http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a rickets |