Disease #02347 (NXD (Naxos disease (NXD)), OMIM:601214)

Official abbreviation NXD
Name Naxos disease (NXD)
OMIM ID 601214
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene JUP
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Disease features -
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15 entries on 1 page. Showing entries 1 - 15.
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00101451 10902626-FamJPat14 PubMed: McKoy 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102672 10902626-FamA PubMed: McKoy 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102673 10902626-PatB PubMed: McKoy 2000 isolated case - - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102674 10902626-FamC PubMed: McKoy 2000 2-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents/sibs M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102675 10902626-FamD PubMed: McKoy 2000 2-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/sibs F - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102676 10902626-PatE PubMed: McKoy 2000 isolated case M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102677 10902626-FamF PubMed: McKoy 2000 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/sibs F;M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102678 10902626-FamG PubMed: McKoy 2000 2-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs F;M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 3 Johan den Dunnen
00102679 10902626-PatH PubMed: McKoy 2000 isolated case - - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102680 10902626-PatI PubMed: McKoy 2000 isolated case M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102681 10902626-FamK PubMed: McKoy 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102682 10902626-PatL PubMed: McKoy 2000 isolated case M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102683 10902626-FamM PubMed: McKoy 2000 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/sibs F;M - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102684 10902626-FamN PubMed: McKoy 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs F - Greece Naxos - 0 - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00209580 - PubMed: Lazaros TFC+; Naxos-disease: woolly hair; skin abnormalities - - - - - 0 - - NXD Naxos syndrome JUP JUP 1 1 Paul van der Zwaag
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