HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 242050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002150) Hypercalciuria 45 / 7739
2
(HPO:0000924) Abnormality of the skeletal system 114 / 7739
3
(HPO:0003537) Hypouricemia 13 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(MedDRA:10049470) Bone density decreased 3 / 7739
6
(OMIM) Increased renal clearance of uric acid 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: