Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617439 http://purl.bioontology.org/ontology/OMIM/617439
Preferred Name	CRANIOSYNOSTOSIS 7
Synonyms	CRS7 CRANIOSYNOSTOSIS 7, DIGENIC CRS7, DIGENIC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CRS7 CRANIOSYNOSTOSIS 7, DIGENIC CRS7, DIGENIC
prefLabel	CRANIOSYNOSTOSIS 7
Gene Symbol	SMAD6 MADH6 AOVD2
Scope Statement	Caused by mutation in the homolog of Drosophila mothers against decapentaplegic 6 (SMAD6, 602931.0003) [MOLECULAR BASIS] Weakly penetrant except in the presence of a BMP2 (112261) modifier allele [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU058012 http://purl.bioontology.org/ontology/OMIM/MTHU002205 http://purl.bioontology.org/ontology/OMIM/MTHU058015 http://purl.bioontology.org/ontology/OMIM/MTHU070415 http://purl.bioontology.org/ontology/OMIM/MTHU058011 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU058016 See more See less
tui	T047
Gene Locus	15q21-q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617439
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU058014
cui	C4479496
OMIM Entry Type	3
OMIM MimType Value	pound

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