familial hypocalciuric hypercalcemia 1
Information
- Disease name
- familial hypocalciuric hypercalcemia 1
- Disease ID
- DOID:0060700
- Description
- "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7916660]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060699
- Cross Reference ID (Disease Ontology)
- ICD10CM:E83.5
- Cross Reference ID (Disease Ontology)
- MIM:145980
- Cross Reference ID (Disease Ontology)
- ORDO:93372
- Exact Synonym (Disease Ontology)
- familial benign hypercalcemia 1
- Exact Synonym (Disease Ontology)
- familial hypocalciuric hypercalcemia type I
- Exact Synonym (Disease Ontology)
- FHH type 1
- Exact Synonym (Disease Ontology)
- HHC1
- Exact Synonym (Disease Ontology)
- hypocalciuric hypercalcemia type I