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MCID: PSD101
MIFTS: 13
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Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa
Categories:
Eye diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...
MalaCards integrated aliases for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa:
Name: Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa
60
Characteristics:Orphanet epidemiological data:60
pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy; Classifications:
ICD10:
35
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MalaCards based summary
:
Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa, is also known as pxe-like syndrome with retinitis pigmentosa. An important gene associated with Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa is GGCX (Gamma-Glutamyl Carboxylase). Affiliated tissues include skin and eye, and related phenotypes are nyctalopia and rod-cone dystrophy
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Symptoms & Phenotypes for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...
Human phenotypes related to Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa:60 33 (show all 11)
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Drugs & Therapeutics for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis...
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MalaCards organs/tissues related to Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa:42
Skin,
Eye
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Search
GEO
for disease gene expression data for Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa.
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