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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
split hand-foot malformation 2
Summary
- Synonym
-
- SHFM2
- Definition
- A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26.
- Super Class
- X-linked monogenic disease split hand-foot malformation
External Links
- Disease Ontology
- DOID:0090027
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16880 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | |
| Q9BXR0 | Queuine tRNA-ribosyltransferase catalytic subunit 1 |
