Search Ontology:
Human Disease
orofaciodigital syndrome XVII
- Term ID
- DOID:0080289
- Synonyms
-
- Definition
- An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. https://pubmed.ncbi.nlm.nih.gov/23459408/
- References
- Ontology
- Human Disease ( DOID:0080289 )
- is a type of
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Genes Involved
Zebrafish Models