Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
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

All Properties

prefLabel
KNIEST DYSPLASIA
Gene Symbol
SEDSTN
LCPD
ANFH1
STL1
COL2A1
EDMMD
ACG2
SEMDSTWK
SMDALG
VPED
OSCDP
PLSDT
SEDC
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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]
type
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
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tui
T047
Gene Locus
12q13.11-q13.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
156550
Semantic type UMLS property
Has inheritance type
cui
C0265279
OMIM Entry Type
3
OMIM MimType Value
pound
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