Phenotype Library | Search Phenotypes

Autosomal Dominant Hypophosphatemic Rickets (MONDO:0008660)

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.

Overview

Category

musculoskeletal system disorder

Ontology ID

MONDO:0008660

Internal:9938

Synonyms

ADHR

autosomal dominant hereditary hypophosphatemic rickets

autosomal dominant hypophosphatemia

autosomal dominant hypophosphatemic rickets

hereditary hypophosphatemic rickets, autosomal dominant

hypophosphatemic rickets, autosomal dominant

hypophosphatemia, autosomal dominant

vitamin D-resistant rickets, autosomal dominant

Mapped terms

DOID:0050948

GARD:0016781

MEDGEN:83346

MESH:C562791

OMIM:193100

Orphanet:89937

SCTID:237889002

UMLS:C0342642

Child terms

Unknown children.

Results

Cookie consent