craniosynostosis 5, susceptibility to
Go to external page http://purl.obolibrary.org/obo/MONDO_0014232
Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: craniosynostosis 5, susceptibility to craniosynostosis caused by mutation in ALX4 ALX4 craniosynostosis
Term information
- MEDGEN:816149 (MONDO:equivalentTo)
- UMLS:C3809819 (MONDO:equivalentTo)
- OMIM:615529 (MONDO:equivalentTo)
mondo_subtype, predisposition, susceptibility_mondo
http://identifiers.org/medgen/816149
https://omim.org/entry/615529
http://linkedlifedata.com/resource/umls/id/C3809819
Term relations
- inherited disease susceptibility and has material basis in germline mutation in some ALX4 and predisposes towards some craniosynostosis