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MIRAGE
childhood hypophosphatasia
Summary
- Definition
- A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12.
- Super Class
- hypophosphatasia
External Links
- Disease Ontology
- DOID:0110915
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
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:0001363 | Craniosynostosis |
| HP:0004322 | Short stature |
| HP:0000670 | Carious teeth |
| HP:0003198 | Myopathy |
| HP:0000268 | Dolichocephaly |
| HP:0003282 | Low alkaline phosphatase |
| HP:0001024 | Skin dimple over apex of long bone angulation |
| HP:0011864 | Elevated plasma pyrophosphate |
| HP:0002515 | Waddling gait |
| HP:0000007 | Autosomal recessive inheritance |
