Online Mendelian Inheritance in Man - DESMOPLAKIN - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	DESMOPLAKIN
Synonyms	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC DSPI DSPII DESMOPLAKIN I KERATOSIS PALMOPLANTARIS STRIATA II DESMOPLAKIN II CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA DSP
ID	http://purl.bioontology.org/ontology/OMIM/125647
altLabel	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC DSPI DSPII DESMOPLAKIN I KERATOSIS PALMOPLANTARIS STRIATA II DESMOPLAKIN II CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA DSP
cui	C4014393 C1843896 C1864826 C1852127 C1414172 C1854063
Gene Locus	6p24
Gene Symbol	PPKS2 KPPS2 DSP DCWHKTA
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/125647.0010 http://purl.bioontology.org/ontology/OMIM/125647.0013 http://purl.bioontology.org/ontology/OMIM/125647.0015 http://purl.bioontology.org/ontology/OMIM/125647.0011 http://purl.bioontology.org/ontology/OMIM/125647.0012 http://purl.bioontology.org/ontology/OMIM/125647.0019 http://purl.bioontology.org/ontology/OMIM/125647.0014 http://purl.bioontology.org/ontology/OMIM/125647.0016 http://purl.bioontology.org/ontology/OMIM/125647.0017 http://purl.bioontology.org/ontology/OMIM/125647.0018 http://purl.bioontology.org/ontology/OMIM/125647.0020 http://purl.bioontology.org/ontology/OMIM/125647.0027 http://purl.bioontology.org/ontology/OMIM/125647.0026 http://purl.bioontology.org/ontology/OMIM/125647.0021 http://purl.bioontology.org/ontology/OMIM/125647.0025 http://purl.bioontology.org/ontology/OMIM/125647.0022 http://purl.bioontology.org/ontology/OMIM/125647.0023 http://purl.bioontology.org/ontology/OMIM/125647.0024 http://purl.bioontology.org/ontology/OMIM/125647.0001 http://purl.bioontology.org/ontology/OMIM/125647.0008 http://purl.bioontology.org/ontology/OMIM/125647.0002 http://purl.bioontology.org/ontology/OMIM/125647.0007 http://purl.bioontology.org/ontology/OMIM/125647.0003 http://purl.bioontology.org/ontology/OMIM/125647.0005 http://purl.bioontology.org/ontology/OMIM/125647.0004 http://purl.bioontology.org/ontology/OMIM/125647.0006 http://purl.bioontology.org/ontology/OMIM/125647.0009
MIMTYPEMEANING	Gene with known sequence
notation	125647
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	DESMOPLAKIN
tui	T047 T028

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564400	MESH	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/1230026002	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/MESH/C565102	MESH	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/719835006	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/MESH/C535493	MESH	CUI
	http://purl.bioontology.org/ontology/SCTSPA/1230026002	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SCTSPA/719835006	SCTSPA	CUI
	http://purl.bioontology.org/ontology/MESH/C535581	MESH	CUI
	http://purl.jp/bio/4/id/200906081720307746	IOBC	LOOM
	http://purl.obolibrary.org/obo/PR_000006711	PR	LOOM
	http://purl.obolibrary.org/obo/PR_000006711	NIFSTD	LOOM
	http://www.limics.org/hrdo/rdfns#gen_id_15895	HRDO	LOOM
	http://www.orpha.net/ORDO/Orphanet_121196	ORDO	LOOM
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88037	NCIT	LOOM
	http://purl.obolibrary.org/obo/NCIT_C88037	BERO	LOOM
	http://www.semanticweb.org/ontologies/2008/8/MultiscaleSkinPhysiologyOntology.owl#Desmoplakin	SPO	LOOM