poruchy imprintingu [Imprinting Disorders]

tematický
Termíny

Genetic Imprinting Disorders
Genomic Imprinting Disorders
Imprinting Diseases
Imprinting Syndromes

Perzistentní odkaz   https://www.medvik.cz/link/D000096803
Definice

Disorders caused by transcriptional silencing of one parental gene allele (imprinted gene). Imprinted genes show genetic expression from only one parent of the gene pair through epigenetic processes with no change in the DNA sequence.

DUI
D000096803 MeSH Prohlížeč
CUI
M000762635
Předchozí užití
Genomic Imprinting (2021-2023)
Historická pozn.
2024
Veřejná pozn.
2024

C Nemoci
C01 infekce 2 027
C04 nádory 12 832
C11 oční nemoci 1 495
C16.320.051 Alagillův syndrom 19
C16.320.100 Brugadův syndrom 40
C16.320.129 CADASIL 8
C16.320.165 CHARGE syndrom 1
C16.320.170 cherubismus 1
C16.320.184 ciliopatie 9
C16.320.188 Costellův syndrom 3
C16.320.190 cystická fibróza 1 330
C16.320.215 Donohueův syndrom 1
C16.320.240 nanismus 99
C16.320.306 syndrom Frasier
C16.320.314 deficit GATA2 2
C16.320.365 hemoglobinopatie 68
C16.320.447.250 Angelmanův syndrom 35
C16.320.447.500 Praderův-Williho syndrom 92
C16.320.467 Kallmannův syndrom 10
C16.320.488 laminopatie 2
C16.320.540 Marfanův syndrom 105
C16.320.577 svalové dystrofie 141
C16.320.728 osteochondrodysplazie 125
C16.320.812 pyknodysostóza 2
C16.320.925 Wernerův syndrom 14

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Uniparental disomy, paternal, chromosome 14 Disease MeSH Prohlížeč