Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/118100 http://purl.bioontology.org/ontology/OMIM/118100
Preferred Name	KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
Synonyms	CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT KFS1 KFS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT KFS1 KFS
prefLabel	KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
Gene Symbol	SYNS4 MCOPCB6 MCOP4 LCA17 GDF6 KFS1 See more See less
Scope Statement	Klippel-Feil anomaly may be a part of other syndromes, including MURCS (601076) and Sprengel deformity (184400) [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Caused by mutation in the growth/differentiation factor 6 gene (GDF6, 601147.0001) [MOLECULAR BASIS] Genetic heterogeneity (see 214300) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU019009 http://purl.bioontology.org/ontology/OMIM/MTHU036370 http://purl.bioontology.org/ontology/OMIM/MTHU026874 http://purl.bioontology.org/ontology/OMIM/MTHU013945 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU000567 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000574 See more See less
tui	T047
Gene Locus	8q22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	118100
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1861689
Moved from	148900 148870
OMIM Entry Type	3
OMIM MimType Value	pound

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