Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive hypophosphatemic rickets
Summary
- Definition
- A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
- Super Class
- autosomal recessive disease rickets
External Links
- Disease Ontology
- DOID:0050949
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22413 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 | |
| P35475 | Alpha-L-iduronidase | |
| Q14435 | Polypeptide N-acetylgalactosaminyltransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001510 | Growth delay |
| HP:0005096 | Distal femoral bowing |
| HP:0000684 | Delayed eruption of teeth |
| HP:0003472 | Hypocalcemic tetany |
| HP:0010639 | Elevated alkaline phosphatase of bone origin |
| HP:0002749 | Osteomalacia |
| HP:0001642 | Pulmonic stenosis |
| HP:0000670 | Carious teeth |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0011463 | Childhood onset |
