OBO ID: DOID:0050949
Term Name: autosomal recessive hypophosphatemic rickets Search Ontology:
Synonyms:
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. (2)
References:
Ontology: Human Disease   (DOID:0050949)
OTHER autosomal recessive hypophosphatemic rickets PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ENPP1 Hypophosphatemic rickets, autosomal recessive, 2 613312
DMP1 Hypophosphatemic rickets, AR 241520
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None