Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615821
http://purl.bioontology.org/ontology/OMIM/615821
Preferred Name

CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
Synonyms
DCWHKTA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DCWHKTA
prefLabel
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
Gene Symbol
PPKS2
KPPS2
DSP
DCWHKTA
Scope Statement
Caused by mutation in the desmoplakin gene (DSP, 125647.0015) [MOLECULAR BASIS]
Tooth agenesis ranges from one missing tooth to marked oligodontia [MISCELLANEOUS]
Risk of sudden death due to cardiac arrhythmias [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU047068
http://purl.bioontology.org/ontology/OMIM/MTHU069841
http://purl.bioontology.org/ontology/OMIM/MTHU063312
http://purl.bioontology.org/ontology/OMIM/MTHU047069
http://purl.bioontology.org/ontology/OMIM/MTHU039444
http://purl.bioontology.org/ontology/OMIM/MTHU001049
http://purl.bioontology.org/ontology/OMIM/MTHU049746
http://purl.bioontology.org/ontology/OMIM/MTHU057915
http://purl.bioontology.org/ontology/OMIM/MTHU030857
http://purl.bioontology.org/ontology/OMIM/MTHU019869
http://purl.bioontology.org/ontology/OMIM/MTHU047067
http://purl.bioontology.org/ontology/OMIM/MTHU000702
http://purl.bioontology.org/ontology/OMIM/MTHU047065
http://purl.bioontology.org/ontology/OMIM/MTHU036312
http://purl.bioontology.org/ontology/OMIM/MTHU069843
http://purl.bioontology.org/ontology/OMIM/MTHU055280
http://purl.bioontology.org/ontology/OMIM/MTHU015215
http://purl.bioontology.org/ontology/OMIM/MTHU042672
http://purl.bioontology.org/ontology/OMIM/MTHU002999
http://purl.bioontology.org/ontology/OMIM/MTHU007900
http://purl.bioontology.org/ontology/OMIM/MTHU036415
http://purl.bioontology.org/ontology/OMIM/MTHU049747
http://purl.bioontology.org/ontology/OMIM/MTHU002943
http://purl.bioontology.org/ontology/OMIM/MTHU005009
http://purl.bioontology.org/ontology/OMIM/MTHU069842
http://purl.bioontology.org/ontology/OMIM/MTHU047070
http://purl.bioontology.org/ontology/OMIM/MTHU047074
http://purl.bioontology.org/ontology/OMIM/MTHU036702
http://purl.bioontology.org/ontology/OMIM/MTHU055281
http://purl.bioontology.org/ontology/OMIM/MTHU000701
http://purl.bioontology.org/ontology/OMIM/MTHU055282
http://purl.bioontology.org/ontology/OMIM/MTHU055284
http://purl.bioontology.org/ontology/OMIM/MTHU047062
See more
See less
tui
T047
Gene Locus
6p24
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615821
Semantic type UMLS property
Has inheritance type
cui
C4014393
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display