DOID
DOID:4
Description

A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. [1]

Code
UMLS_CUI:C0012634

LIFE Heart Study

Die LIFE-Heart Studie rekrutierte 7.000 Patienten mit Verdacht auf koronare Herzerkrankung, manifester Herzerkrankung oder Myokardinfarkt. Alle Patienten erhielten eine Koronarangiographie, so dass de...

Manchester Scoring System

The "Manchester Scoring System" is an empirical mutation risk prediction model. In its current form, a risk score for the identification of a pathogenic BRCA1/2 mutation is being calculated based on t...

Claus

The Claus model is a genetic breast cancer risk calculation model assuming a single rare, highly penetrant gene. The extended version of the Claus model (eClaus), as implemented in the commercial pedi...

PREMM1,2,6

"PREMM1,2,6" is a logistic regression model. It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2 and MSH6 (for single genes and overall) based on the personal and famil...

PREMM5

"PREMM5" is a logistic regression model. It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2/EPCAM, MSH6 and PMS2 (for single genes and overall) based on the personal a...

MMRpredict

"MMRpredict" is a risk prediction model for patients with colorectal cancer (Barnetson et al. 2006). It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2 and MSH6 (overa...