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
ABCD syndrome
Summary
- Synonym
-
- ABCDS
- albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
- Definition
- A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050600
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
