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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002979 | Bowing of the legs |
| HP:0000520 | Proptosis |
| HP:0003491 | Elevated urine pyrophosphate |
| HP:0001250 | Seizure |
| HP:0006323 | Premature loss of primary teeth |
| HP:0002007 | Frontal bossing |
| HP:0000897 | Rachitic rosary |
| HP:0003239 | Phosphoethanolaminuria |
