JSON

TCF12-related craniosynostosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0014128

Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene. [ https://clinicalgenome.org/affiliation/40059/ MONDO:patterns/disease_series_by_gene http://www.ncbi.nlm.nih.gov/pubmed/23354436 ]

Synonyms: craniosynostosis 3 craniosynostosis type 3 TCF12 craniosynostosis craniosynostosis caused by mutation in TCF12 TCF12-related craniosynostosis

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2657

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

https://omim.org/entry/615314

http://linkedlifedata.com/resource/umls/id/C3715051

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018114

http://purl.obolibrary.org/obo/MONDO_0018113

id

MONDO:0014128

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014128

Term relations