Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609813 http://purl.bioontology.org/ontology/OMIM/609813
Preferred Name	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
Synonyms	SCDO3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCDO3
prefLabel	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
Gene Symbol	SCDO3 LFNG
Scope Statement	Caused by mutation in the lunatic fringe gene (LFNG, 602576.0001) [MOLECULAR BASIS] Two patients have been independently reported (last curated February 2019) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU063722 http://purl.bioontology.org/ontology/OMIM/MTHU007917 http://purl.bioontology.org/ontology/OMIM/MTHU063720 http://purl.bioontology.org/ontology/OMIM/MTHU011533 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU063724 http://purl.bioontology.org/ontology/OMIM/MTHU063723 http://purl.bioontology.org/ontology/OMIM/MTHU011330 http://purl.bioontology.org/ontology/OMIM/MTHU063721 http://purl.bioontology.org/ontology/OMIM/MTHU000145 See more See less
tui	T047
Gene Locus	7p22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609813
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1853296
OMIM Entry Type	3
OMIM MimType Value	pound

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