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
vitamin D-dependent rickets type 1A
Summary
- Definition
- A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.
- Super Class
- autosomal recessive disease vitamin D-dependent rickets
External Links
- Disease Ontology
- DOID:0080886
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000684 | Delayed eruption of teeth |
| HP:0000737 | Irritability |
| HP:0000867 | Secondary hyperparathyroidism |
| HP:0000886 | Deformed rib cage |
| HP:0000897 | Rachitic rosary |
| HP:0000920 | Enlargement of the costochondral junction |
| HP:0001270 | Motor delay |
| HP:0001281 | Tetany |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
