Details for Disease 783

DISEASE NAME Rubinstein-Taybi syndrome
DISEASE CATEGORY (ICD10) Congenital malformations, deformations and chromosomal abnormalities
DISEASE ID (ICD10) Q87.2
DISEASE ID (OMIM) 601493; 601494; 604169; 609470; 611878; 613424; 613426; 615092; 615373; 615396; 180849; 610543; 613684
1 combination linked to 783 OLI232
1 gene combination linked to 783 ABCC9; TTN
ORPHANET ID 783

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