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orofaciodigital syndrome VIII
Summary
- Synonym
-
- OFD8
- Definition
- An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance.
- Super Class
- X-linked recessive disease orofaciodigital syndrome
External Links
- Disease Ontology
- DOID:0060378
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 |
