Carvajal syndrome
(Q5047506)
autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24
autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24
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Current Data About
Carvajal syndrome
other details
| aliases |
palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair DCWHK dilated cardiomyopathy with woolly hair and keratoderma |
| description | autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24 |
External Links
| (P492) |
605676
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| (P665) |
H02094
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| (P699) |
DOID:0090128
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| (P1550) |
65282
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| (P2892) |
C1854063
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| (P4317) |
5595
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| (P7807) |
794833082
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| (P11430) |
DI-00230
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