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
combined oxidative phosphorylation deficiency 35
Summary
- Synonym
-
- COXPD35
- Definition
- A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111464
- Mondo Disease Ontology
- OMIM
