Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/616295
http://purl.bioontology.org/ontology/OMIM/616295
Preferred Name

PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
Synonyms
PLACK
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PLACK
prefLabel
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
Gene Symbol
CAST
PLACK
Scope Statement
Onset of blistering skin in infancy with improvement over time [MISCELLANEOUS]
Caused by mutation in the calpastatin gene (CAST, 114090.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU051347
http://purl.bioontology.org/ontology/OMIM/MTHU003000
http://purl.bioontology.org/ontology/OMIM/MTHU001049
http://purl.bioontology.org/ontology/OMIM/MTHU051340
http://purl.bioontology.org/ontology/OMIM/MTHU051345
http://purl.bioontology.org/ontology/OMIM/MTHU051342
http://purl.bioontology.org/ontology/OMIM/MTHU051338
http://purl.bioontology.org/ontology/OMIM/MTHU051339
http://purl.bioontology.org/ontology/OMIM/MTHU051346
http://purl.bioontology.org/ontology/OMIM/MTHU051348
http://purl.bioontology.org/ontology/OMIM/MTHU051343
http://purl.bioontology.org/ontology/OMIM/MTHU051344
http://purl.bioontology.org/ontology/OMIM/MTHU051337
http://purl.bioontology.org/ontology/OMIM/MTHU041311
http://purl.bioontology.org/ontology/OMIM/MTHU000701
http://purl.bioontology.org/ontology/OMIM/MTHU051341
See more
See less
tui
T047
Gene Locus
5q15-q21
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
616295
Semantic type UMLS property
Has inheritance type
cui
C4225381
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display