Mondo Disease Ontology

Last uploaded: November 25, 2024

Preferred Name	trigonocephaly 1
Synonyms	craniosynostosis, metopic TRIGNO1 FGFR1 isolated trigonocephaly trigonocephaly type 1 isolated trigonocephaly caused by mutation in FGFR1 trigonocephaly 1
Definitions	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.
ID	http://purl.obolibrary.org/obo/MONDO_0008603
database_cross_reference	GARD:18558 UMLS:C0432122 OMIM:190440 MEDGEN:98473
definition	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.
has_exact_synonym	FGFR1 isolated trigonocephaly trigonocephaly type 1 isolated trigonocephaly caused by mutation in FGFR1 trigonocephaly 1
has_related_synonym	craniosynostosis, metopic TRIGNO1
id	MONDO:0008603
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	trigonocephaly 1
notation	MONDO:0008603
prefLabel	trigonocephaly 1
skos_exactMatch	https://omim.org/entry/190440 http://linkedlifedata.com/resource/umls/id/C0432122 http://identifiers.org/medgen/98473
treeView	http://purl.obolibrary.org/obo/MONDO_0018065
subClassOf	http://purl.obolibrary.org/obo/MONDO_0018065

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008603	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008603	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008603	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008603	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008603	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008603	DOVES	LOOM
http://identifiers.org/omim/190440	REXO	LOOM
http://identifiers.org/omim/190440	GEXO	LOOM
http://identifiers.org/omim/190440	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/190440	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_190440	CCO	LOOM