Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
biotinidase deficiency
Summary
- Synonym
-
- BTD deficiency
- Juvenile-onset multiple carboxylase deficiency
- Late-onset multiple carboxylase deficiency
- deficiency of biotinidase
- Definition
- A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
- Super Class
- autosomal recessive disease multiple carboxylase deficiency
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002715 | Abnormality of the immune system |
| HP:0011153 | Focal motor seizure |
| HP:0004429 | Recurrent viral infections |
| HP:0200068 | Nonprogressive visual loss |
| HP:0002883 | Hyperventilation |
| HP:0005979 | Metabolic ketoacidosis |
| HP:0003593 | Infantile onset |
| HP:0000572 | Visual loss |
| HP:0100275 | Diffuse cerebellar atrophy |
| HP:0002506 | Diffuse cerebral atrophy |
