autosomal dominant hypophosphatemic rickets

Summary

DOID:0050948 - autosomal dominant hypophosphatemic rickets

Disease Ontology Definition:A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.

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

: fgf23.2, fgf23

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008660 - autosomal dominant hypophosphatemic rickets

MONDO:0008660 - autosomal dominant hypophosphatemic rickets

MIM:

MIM:193100 - HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

MIM:193100 - HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), rickets (is_a)