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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
infantile hypophosphatasia
Summary
- Synonym
-
- Hops
- phosphoethanolaminuria
- Definition
- A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
- Super Class
- hypophosphatasia
External Links
- Disease Ontology
- DOID:0110914
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | |
| P05187 | Alkaline phosphatase, placental type | |
| Q5VV63 | Attractin-like protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002104 | Apnea |
| HP:0002150 | Hypercalciuria |
| HP:0002170 | Intracranial hemorrhage |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0002979 | Bowing of the legs |
| HP:0002983 | Micromelia |
| HP:0003021 | Metaphyseal cupping |
| HP:0003072 | Hypercalcemia |
| HP:0003239 | Phosphoethanolaminuria |
