Online Mendelian Inheritance in Man - CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
Synonyms	CARVAJAL SYNDROME PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR DCWHK
ID	http://purl.bioontology.org/ontology/OMIM/605676
altLabel	CARVAJAL SYNDROME PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR DCWHK
cui	C1854063
Gene Locus	6p24
Gene Symbol	PPKS2 KPPS2 DSP DCWHKTA
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU049756 http://purl.bioontology.org/ontology/OMIM/MTHU068481 http://purl.bioontology.org/ontology/OMIM/MTHU009472 http://purl.bioontology.org/ontology/OMIM/MTHU049748 http://purl.bioontology.org/ontology/OMIM/MTHU049762 http://purl.bioontology.org/ontology/OMIM/MTHU049764 http://purl.bioontology.org/ontology/OMIM/MTHU049753 http://purl.bioontology.org/ontology/OMIM/MTHU049759 http://purl.bioontology.org/ontology/OMIM/MTHU049749 http://purl.bioontology.org/ontology/OMIM/MTHU001049 http://purl.bioontology.org/ontology/OMIM/MTHU068480 http://purl.bioontology.org/ontology/OMIM/MTHU049746 http://purl.bioontology.org/ontology/OMIM/MTHU049757 http://purl.bioontology.org/ontology/OMIM/MTHU068484 http://purl.bioontology.org/ontology/OMIM/MTHU068483 http://purl.bioontology.org/ontology/OMIM/MTHU049752 http://purl.bioontology.org/ontology/OMIM/MTHU019869 http://purl.bioontology.org/ontology/OMIM/MTHU034681 http://purl.bioontology.org/ontology/OMIM/MTHU031178 http://purl.bioontology.org/ontology/OMIM/MTHU047067 http://purl.bioontology.org/ontology/OMIM/MTHU049281 http://purl.bioontology.org/ontology/OMIM/MTHU049755 http://purl.bioontology.org/ontology/OMIM/MTHU068482 http://purl.bioontology.org/ontology/OMIM/MTHU049763 http://purl.bioontology.org/ontology/OMIM/MTHU003001 http://purl.bioontology.org/ontology/OMIM/MTHU049758 http://purl.bioontology.org/ontology/OMIM/MTHU049747 http://purl.bioontology.org/ontology/OMIM/MTHU008479 http://purl.bioontology.org/ontology/OMIM/MTHU002943 http://purl.bioontology.org/ontology/OMIM/MTHU049754 http://purl.bioontology.org/ontology/OMIM/MTHU047074 http://purl.bioontology.org/ontology/OMIM/MTHU000701
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	607655
notation	605676
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
Scope Statement	Risk of death due to cardiac dysfunction [MISCELLANEOUS] Caused by mutation in the desmoplakin gene (DSP, 125647.0002) [MOLECULAR BASIS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SNOMEDCT/719835006	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/SCTSPA/719835006	SCTSPA	CUI
	http://purl.bioontology.org/ontology/MESH/C535581	MESH	CUI
	http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535581	RH-MESH	LOOM
	http://identifiers.org/omim/605676	REXO	LOOM
	http://identifiers.org/omim/605676	GEXO	LOOM
	http://identifiers.org/omim/605676	RETO	LOOM
	http://purl.obolibrary.org/obo/OMIM_605676	CCO	LOOM
	http://purl.bioontology.org/ontology/MESH/C535581	MESH	LOOM