autosomal recessive hypophosphatemic rickets

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: enpp1, dmp1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0017324 - autosomal recessive hypophosphatemic rickets

MONDO:0017324 - autosomal recessive hypophosphatemic rickets

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)