familial hypocalciuric hypercalcemia
Information
- Disease name
- familial hypocalciuric hypercalcemia
- Disease ID
- DOID:0060699
- Description
- "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19809483]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04872894 | Completed | Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution | February 1, 2021 | April 1, 2023 |
- Disase is a (Disease Ontology)
- DOID:12678
- Cross Reference ID (Disease Ontology)
- GARD:10828
- Cross Reference ID (Disease Ontology)
- ICD10CM:E83.5
- Cross Reference ID (Disease Ontology)
- MIM:PS145980
- Cross Reference ID (Disease Ontology)
- ORDO:405
- Exact Synonym (Disease Ontology)
- familial benign hypercalcemia
- Exact Synonym (Disease Ontology)
- familial benign hypocalciuric hypercalcemia
- Exact Synonym (Disease Ontology)
- FBH
- Exact Synonym (Disease Ontology)
- FBHH
- Exact Synonym (Disease Ontology)
- FHH
- OrphaNumber from OrphaNet (Orphanet)
- 405
- MedGen concept unique identifier (MedGen Concept name)
- C0342637
- MedGen unique identifier (MedGen Concept name)
- 137973