Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/277950
http://purl.bioontology.org/ontology/OMIM/277950
Preferred Name

WINCHESTER SYNDROME
Synonyms
WNCHRS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
WNCHRS
prefLabel
WINCHESTER SYNDROME
Gene Symbol
WNCHRS
MMP14
Scope Statement
Based on report of 2 Puerto Rican sisters and 2 Dutch brothers (last curated March 2024) [MISCELLANEOUS]
Caused by mutation in the matrix metalloproteinase-14 gene (MMP14, 600754.0001) [MOLECULAR BASIS]
Patients may exhibit motor delays due to bone and joint abnormalities [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU078230
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU078235
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU018151
http://purl.bioontology.org/ontology/OMIM/MTHU078236
http://purl.bioontology.org/ontology/OMIM/MTHU002083
http://purl.bioontology.org/ontology/OMIM/MTHU002677
http://purl.bioontology.org/ontology/OMIM/MTHU078233
http://purl.bioontology.org/ontology/OMIM/MTHU011192
http://purl.bioontology.org/ontology/OMIM/MTHU004559
http://purl.bioontology.org/ontology/OMIM/MTHU067426
http://purl.bioontology.org/ontology/OMIM/MTHU002170
http://purl.bioontology.org/ontology/OMIM/MTHU008694
http://purl.bioontology.org/ontology/OMIM/MTHU060695
http://purl.bioontology.org/ontology/OMIM/MTHU001062
http://purl.bioontology.org/ontology/OMIM/MTHU078234
http://purl.bioontology.org/ontology/OMIM/MTHU008315
http://purl.bioontology.org/ontology/OMIM/MTHU037883
http://purl.bioontology.org/ontology/OMIM/MTHU078232
http://purl.bioontology.org/ontology/OMIM/MTHU078231
http://purl.bioontology.org/ontology/OMIM/MTHU001746
See more
See less
tui
T047
Gene Locus
14q11.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
277950
Semantic type UMLS property
Has inheritance type
cui
C0432289
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display