autosomal recessive hypophosphatemic rickets

Summary
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.
Super Class
autosomal recessive disease rickets
External Links
Disease Ontology
DOID:0050949
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
3425 IDUA alpha-L-iduronidase
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 47 in total
HPO ID HPO Term
HP:0003020 Enlargement of the wrists
HP:0100511 Abnormality of vitamin D metabolism
HP:0002024 Malabsorption
HP:0005764 Polyarticular arthritis
HP:0001250 Seizure
HP:0011001 Increased bone mineral density
HP:0002812 Coxa vara
HP:0100781 Abnormal sacroiliac joint morphology
HP:0004322 Short stature
HP:0000407 Sensorineural hearing impairment
Displaying 1 entry
Gene ID Gene Symbol Description
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024