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trigonocephaly 1

^ http://purl.obolibrary.org/obo/MONDO_0008603

Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • OMIM:190440 (MONDO:equivalentTo)
abbreviation
TRIGNO1 [ OMIM:190440 MONDO:Lexical ]

definition

Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.

exactMatch

https://omim.org/entry/190440

has exact synonym

FGFR1 isolated trigonocephaly, trigonocephaly type 1, trigonocephaly 1, isolated trigonocephaly caused by mutation in FGFR1

has related synonym

craniosynostosis, metopic, TRIGNO1

id

MONDO:0008603

Term relations