Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613686 http://purl.bioontology.org/ontology/OMIM/613686
Preferred Name	SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
Synonyms	SCDO4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCDO4
prefLabel	SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
Gene Symbol	SCDO4 HES7
Scope Statement	Caused by mutation in the homolog of the Drosophila hairy/enhancer of split 7 gene (HES7, 608059.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU034511 http://purl.bioontology.org/ontology/OMIM/MTHU034514 http://purl.bioontology.org/ontology/OMIM/MTHU007927 http://purl.bioontology.org/ontology/OMIM/MTHU018362 http://purl.bioontology.org/ontology/OMIM/MTHU036568 http://purl.bioontology.org/ontology/OMIM/MTHU030435 http://purl.bioontology.org/ontology/OMIM/MTHU037500 http://purl.bioontology.org/ontology/OMIM/MTHU001474 http://purl.bioontology.org/ontology/OMIM/MTHU037624 http://purl.bioontology.org/ontology/OMIM/MTHU034510 http://purl.bioontology.org/ontology/OMIM/MTHU036562 http://purl.bioontology.org/ontology/OMIM/MTHU006154 http://purl.bioontology.org/ontology/OMIM/MTHU034513 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU034512 http://purl.bioontology.org/ontology/OMIM/MTHU006874 See more See less
tui	T047
Gene Locus	17p13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613686
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3150942
OMIM Entry Type	3
OMIM MimType Value	pound

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