Additional Disease Briefs



thrombophilia due to thrombin defect

Also known as: THPH1, Venous thromboembolism, factor II-related thrombophilia, hyperprothrombinemia, prothrombin 20210G>A thrombophilia, prothrombin G20210A thrombophilia, prothrombin thrombophilia, prothrombin-related thrombophilia, thromboembolism, susceptibility to, thrombophilia 1 due to thrombin defect, thrombophilia due to factor 2 defect, thrombophilia due to thrombin defect, thrombosis, protection against, venous thromboembolism, susceptibility to, venous thrombosis, venous thrombosis, protection against



thrombophilia, X-linked, due to factor 9 defect

Also known as: THPH8, deep Venous thrombosis, protection against, deep venous thrombosis, protection against, X-linked recessive, thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive, thrombophilia, X-linked, due to factor 9 defect, thrombophilia, X-linked, due to factor IX defect




thumb deformity-alopecia-pigmentation anomaly syndrome

Also known as: congenital deformity of the thumb and congenital alopecia, hypotrichosis associated with congenital hypoplasia of the thumb, sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation, thumb deformity and alopecia, thumb deformity, alopecia, pigmentation anomaly


thumb stiffness-brachydactyly-intellectual disability syndrome

Also known as: Piussan-Lenaerts-Mathieu syndrome, Thumb ankylosis with intellectual disability, Thumb ankylosis with mental retardation, thumb stiff brachydactyly intellectual disability, thumb stiff brachydactyly mental retardation, thumbs, STIFF, with brachydactyly type A1 and developmental delay