We use cookies to enhance your experience: essential cookies for login and preferences, and optional analytics cookies to improve our site. Accepting cookies allows analytics tracking. Rejecting disables analytics. See "use of cookies" for more information.

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
Jump to:
Id http://purl.bioontology.org/ontology/OMIM/225500
http://purl.bioontology.org/ontology/OMIM/225500
Preferred Name

ELLIS-VAN CREVELD SYNDROME
Synonyms
EVC
MESOECTODERMAL DYSPLASIA
CHONDROECTODERMAL DYSPLASIA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
EVC
MESOECTODERMAL DYSPLASIA
CHONDROECTODERMAL DYSPLASIA
prefLabel
ELLIS-VAN CREVELD SYNDROME
Gene Symbol
LBN
EVC2
WAD
notation
225500
Scope Statement
Caused by mutation in the EVC gene (EVC, 604831.0001) [MOLECULAR BASIS]
Increased frequency in eastern Pennsylvania Amish [MISCELLANEOUS]
Caused by mutation in the EVC2 (limbin) gene (EVC2, 607231.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
Moved from
602363
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU013181
http://purl.bioontology.org/ontology/OMIM/MTHU036368
http://purl.bioontology.org/ontology/OMIM/MTHU011565
http://purl.bioontology.org/ontology/OMIM/MTHU013172
http://purl.bioontology.org/ontology/OMIM/MTHU003988
http://purl.bioontology.org/ontology/OMIM/MTHU003181
http://purl.bioontology.org/ontology/OMIM/MTHU013168
http://purl.bioontology.org/ontology/OMIM/MTHU005092
http://purl.bioontology.org/ontology/OMIM/MTHU007401
http://purl.bioontology.org/ontology/OMIM/MTHU001106
http://purl.bioontology.org/ontology/OMIM/MTHU002570
http://purl.bioontology.org/ontology/OMIM/MTHU056926
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU001153
http://purl.bioontology.org/ontology/OMIM/MTHU013178
http://purl.bioontology.org/ontology/OMIM/MTHU004144
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU013175
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU013176
http://purl.bioontology.org/ontology/OMIM/MTHU023430
http://purl.bioontology.org/ontology/OMIM/MTHU013169
http://purl.bioontology.org/ontology/OMIM/MTHU013177
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU013182
http://purl.bioontology.org/ontology/OMIM/MTHU002571
http://purl.bioontology.org/ontology/OMIM/MTHU013179
http://purl.bioontology.org/ontology/OMIM/MTHU013167
http://purl.bioontology.org/ontology/OMIM/MTHU037414
http://purl.bioontology.org/ontology/OMIM/MTHU013170
http://purl.bioontology.org/ontology/OMIM/MTHU013173
See more
See less
MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
4p16
tui
T047
cui
C0013903
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
  • Loading...