.:: Acronyms

SOP: Standard Operating Procedure

MTA: Material Transfer Agreement

MIM: Mendelian Inheritance in Man

ICD: International Classification of Diseases

WHO: World Health Organization

.:: Technical terms

MIM number

MIM numbers come from the numbering system used in the OMIM database.
Each OMIM entry is given a unique six-digit number whose first digit indicates the mode of inheritance of the gene involved:
1----- (100000- ) Autosomal dominant loci or phenotypes (entries created before May 15, 1994)
2----- (200000- ) Autosomal recessive loci or phenotypes (entries created before May 15, 1994)
3----- (300000- ) X-linked loci or phenotypes
4----- (400000- ) Y-linked loci or phenotypes
5----- (500000- ) Mitochondrial loci or phenotypes
6----- (600000- ) Autosomal loci or phenotypes (entries created after May 15, 1994)

More information on OMIM FAQ web site.

OMIM database

Online Mendelian Inheritance in Man (OMIM™) is a continuously updated catalog of human genes and genetic disorders. OMIM focuses primarily on inherited, or heritable, genetic diseases. It is also considered to be a phenotypic companion to the human genome project. OMIM is based upon the text Mendelian Inheritance in Man, authored and edited by Dr. Victor A. McKusick and a team of science writers and editors at Johns Hopkins University and elsewhere. Mendelian Inheritance in Man is now in its 12th edition.

More information on OMIM FAQ web site.

ICD-10 classification

ICD-10 was endorsed by the Forty-third World Health Assembly in May 1990 and came into use in WHO Member States as from 1994. The classification is the latest in a series which has its origins in the 1850s.
The ICD has become the international standard diagnostic classification for all general epidemiological and many health management purposes.
It is used to classify diseases and other health problems recorded on many types of health and vital records including death certificates and hospital records. In addition to enabling the storage and retrieval of diagnostic information for clinical and epidemiological purposes, these records also provide the basis for the compilation of national mortality and morbidity statistics by WHO Member States.

More information on WHO web site.