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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Ritscher-Schinzel syndrome 1
Summary
- Definition
- A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.
- Super Class
- Ritscher-Schinzel syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0060571
- Mondo Disease Ontology
- ORDO
- OMIM
