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DOID:0050949 - autosomal recessive hypophosphatemic rickets
Disease Ontology 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.
Synonyms:
Xenbase Genes
:
enpp1,
dmp1
| MONDO:0017324 - autosomal recessive hypophosphatemic rickets |
| MIM:241520 - HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1 |
| MIM:613312 - HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
rickets (is_a)