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MIRAGE
adult hypophosphatasia
Summary
- Synonym
-
- mild hypophosphatasia
- Definition
- A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12.
- Super Class
- hypophosphatasia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3TJD3 | Alkaline phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0006323 | Premature loss of primary teeth |
| HP:0000934 | Chondrocalcinosis |
| HP:0003040 | Arthropathy |
| HP:0002756 | Pathologic fracture |
| HP:0006357 | Premature loss of permanent teeth |
| HP:0002749 | Osteomalacia |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0000670 | Carious teeth |
