Online Mendelian Inheritance in Man - KNIEST DYSPLASIA - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/156550 http://purl.bioontology.org/ontology/OMIM/156550
Preferred Name	KNIEST DYSPLASIA
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	KNIEST DYSPLASIA
Gene Symbol	COL2A1
notation	156550
Scope Statement	Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0012) [MOLECULAR BASIS] Abnormal gait [MISCELLANEOUS] Delayed motor milestones [MISCELLANEOUS] Parental somatic mosaicism in 2 cases produced mild phenotype in the patients [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU017174 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU002014 http://purl.bioontology.org/ontology/OMIM/MTHU011590 http://purl.bioontology.org/ontology/OMIM/MTHU000607 http://purl.bioontology.org/ontology/OMIM/MTHU002029 http://purl.bioontology.org/ontology/OMIM/MTHU017172 http://purl.bioontology.org/ontology/OMIM/MTHU017177 http://purl.bioontology.org/ontology/OMIM/MTHU017186 http://purl.bioontology.org/ontology/OMIM/MTHU001649 http://purl.bioontology.org/ontology/OMIM/MTHU017185 http://purl.bioontology.org/ontology/OMIM/MTHU017182 http://purl.bioontology.org/ontology/OMIM/MTHU012591 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU017176 http://purl.bioontology.org/ontology/OMIM/MTHU017180 http://purl.bioontology.org/ontology/OMIM/MTHU036928 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU017183 http://purl.bioontology.org/ontology/OMIM/MTHU017179 http://purl.bioontology.org/ontology/OMIM/MTHU000038 http://purl.bioontology.org/ontology/OMIM/MTHU017184 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU003435 http://purl.bioontology.org/ontology/OMIM/MTHU017181 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU004635 http://purl.bioontology.org/ontology/OMIM/MTHU036440 http://purl.bioontology.org/ontology/OMIM/MTHU017187 http://purl.bioontology.org/ontology/OMIM/MTHU017188 http://purl.bioontology.org/ontology/OMIM/MTHU006862 http://purl.bioontology.org/ontology/OMIM/MTHU012428 http://purl.bioontology.org/ontology/OMIM/MTHU017178 http://purl.bioontology.org/ontology/OMIM/MTHU017175 http://purl.bioontology.org/ontology/OMIM/MTHU000585 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	12q13.11-q13.2
tui	T047
cui	C0265279

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