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hypophosphatasia
Summary
- Synonym
-
- deficiency of alkaline phosphatase
- Definition
- A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:14213
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 26033 | ATRNL1 | attractin like 1 | |
| 51604 | PIGT | phosphatidylinositol glycan anchor biosynthesis class T |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | |
| P05187 | Alkaline phosphatase, placental type | |
| P49419 | Alpha-aminoadipic semialdehyde dehydrogenase | |
| Q5VV63 | Attractin-like protein 1 | |
| Q969N2 | GPI transamidase component PIG-T |
