Autosomal recessive hypophosphatemic rickets

General Information (adopted from Orphanet):

Synonyms, Signs: ARHR
Number of Symptoms 7
OrphanetNr: 289176
OMIM Id: 241520
613312
ICD-10: E83.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypophosphatemic rickets
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0001363) Craniosynostosis 132 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
 (HPO:0004912) Hypophosphatemic rickets 13 / 7739
4
 (HPO:0011001) Increased bone mineral density 78 / 7739
5
 (HPO:0002748) Rickets 41 / 7739
6
 (HPO:0002148) Hypophosphatemia 43 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: