infantile hypophosphatasia
Information
- Disease name
- infantile hypophosphatasia
- Disease ID
- DOID:0110914
- Description
- "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1689104]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 |
- Disase is a (Disease Ontology)
- DOID:14213
- Cross Reference ID (Disease Ontology)
- MIM:241500
- Cross Reference ID (Disease Ontology)
- ORDO:247651
- Exact Synonym (Disease Ontology)
- Hops
- Exact Synonym (Disease Ontology)
- phosphoethanolaminuria
- OrphaNumber from OrphaNet (Orphanet)
- 247651