Online Mendelian Inheritance in Man - KEUTEL SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/245150 http://purl.bioontology.org/ontology/OMIM/245150
Preferred Name	KEUTEL SYNDROME
Synonyms	KTLS PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES
Type	http://www.w3.org/2002/07/owl#Class

altLabel	KTLS PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES
prefLabel	KEUTEL SYNDROME
Gene Symbol	MGP
Scope Statement	Caused by mutation in the matrix Gla protein gene (MGP, 154870.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU058373 http://purl.bioontology.org/ontology/OMIM/MTHU011985 http://purl.bioontology.org/ontology/OMIM/MTHU009427 http://purl.bioontology.org/ontology/OMIM/MTHU011349 http://purl.bioontology.org/ontology/OMIM/MTHU011988 http://purl.bioontology.org/ontology/OMIM/MTHU011974 http://purl.bioontology.org/ontology/OMIM/MTHU058375 http://purl.bioontology.org/ontology/OMIM/MTHU007297 http://purl.bioontology.org/ontology/OMIM/MTHU058374 http://purl.bioontology.org/ontology/OMIM/MTHU011972 http://purl.bioontology.org/ontology/OMIM/MTHU011989 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU011977 http://purl.bioontology.org/ontology/OMIM/MTHU011981 http://purl.bioontology.org/ontology/OMIM/MTHU011982 http://purl.bioontology.org/ontology/OMIM/MTHU011986 http://purl.bioontology.org/ontology/OMIM/MTHU058376 http://purl.bioontology.org/ontology/OMIM/MTHU005629 http://purl.bioontology.org/ontology/OMIM/MTHU011983 http://purl.bioontology.org/ontology/OMIM/MTHU011973 http://purl.bioontology.org/ontology/OMIM/MTHU011979 http://purl.bioontology.org/ontology/OMIM/MTHU000710 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU058372 http://purl.bioontology.org/ontology/OMIM/MTHU011987 http://purl.bioontology.org/ontology/OMIM/MTHU011984 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU007235 http://purl.bioontology.org/ontology/OMIM/MTHU011975 http://purl.bioontology.org/ontology/OMIM/MTHU037623 http://purl.bioontology.org/ontology/OMIM/MTHU011978 http://purl.bioontology.org/ontology/OMIM/MTHU011971 http://purl.bioontology.org/ontology/OMIM/MTHU009656 http://purl.bioontology.org/ontology/OMIM/MTHU011976 http://purl.bioontology.org/ontology/OMIM/MTHU002156 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU058377 http://purl.bioontology.org/ontology/OMIM/MTHU011980 See more See less
tui	T047
Gene Locus	12p13.1-p12.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	245150
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1855607
OMIM Entry Type	3
OMIM MimType Value	pound

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