Search Ontology:
Human Disease
acrofrontofacionasal dysostosis 3
- Term ID
- DOID:0051104
- Synonyms
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- Definition
- An acrofrontofacionasal dysostosis that is characterized by multiple congenital anomalies and severely impaired psychomotor development and that has_material_basis_in mutation in the NBAS gene on chromosome 2p24. https://pubmed.ncbi.nlm.nih.gov/29929043/
- References
- Ontology
- Human Disease ( DOID:0051104 )
Other Pages
Genes Involved
Zebrafish Models