autosomal dominant hypophosphatemic rickets
Information
- Disease name
- autosomal dominant hypophosphatemic rickets
- Disease ID
- DOID:0050948
- Description
- "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance." [url:http\://www.omim.org/entry/193100?search=193100&highlight=193100, url:https\://www.ncbi.nlm.nih.gov/pubmed/26365554]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02233322 | Completed | N/A | Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. | August 2014 | November 12, 2019 |
- Disase is a (Disease Ontology)
- DOID:10609
- Cross Reference ID (Disease Ontology)
- MIM:193100
- OrphaNumber from OrphaNet (Orphanet)
- 89937
- MedGen concept unique identifier (MedGen Concept name)
- C0342642
- MedGen unique identifier (MedGen Concept name)
- 83346