MIM classification system Online Mendelian Inheritance in Man
mim numbers
each omim entry given unique six-digit identifier summarized below:
100000–299999: autosomal loci or phenotypes (entries created before may 15, 1994)
300000–399999: x-linked loci or phenotypes
400000–499999: y-linked loci or phenotypes
500000–599999: mitochondrial loci or phenotypes
600000 , above: autosomal loci or phenotypes (entries created after may 15, 1994)
in cases of allelic heterogeneity, mim number of entry followed decimal point , unique 4-digit number specifying variant. example, allelic variants in hbb gene (141900) numbered 141900.0001 through 141900.0538.
because omim has responsibility classification , naming of genetic disorders, these numbers stable identifiers of disorders.
symbols preceding mim numbers
symbols preceding mim numbers indicate entry category:
an asterisk (*) before entry number indicates gene.
a number symbol (#) before entry number indicates descriptive entry, of phenotype, , not represent unique locus. reason use of number symbol given in first paragraph of entry. discussion of gene(s) related phenotype resides in entry (or entries) described in first paragraph.
a plus sign (+) before entry number indicates entry contains description of gene of known sequence , phenotype.
a percent sign (%) before entry number indicates entry describes confirmed mendelian phenotype or phenotypic locus underlying molecular basis not known.
no symbol before entry number indicates description of phenotype mendelian basis, although suspected, has not been established or separateness of phenotype in entry unclear.
a caret (^) before entry number means entry no longer exists because removed database or moved entry indicated.
^ faq, §1.2 . online mendelian inheritance in man. baltimore, md: mckusick-nathans institute of genetic medicine, johns hopkins university. 2015. retrieved 23 july 2015.
^ hemoglobin beta locus or hbb (141900): allelic variants . online mendelian inheritance in man. baltimore, md: mckusick-nathans institute of genetic medicine, johns hopkins university. 2015. retrieved 23 july 2015.
^ cite error: named reference new face invoked never defined (see page).
^ faq, §1.3 . online mendelian inheritance in man. baltimore, md: mckusick-nathans institute of genetic medicine, johns hopkins university. 2015. retrieved 23 july 2015.
Comments
Post a Comment