tblSyndromes |
primary key: ky_syndrome_id
integer |
cc_category Character; Maximum length = 2 (autism, epilepsy,
alopecia ...) |
ch_abbreviation Character; Max length = 6 (see note 3)
|
ch_syndrome_name Character; Maximum length = 80
|
int_incidence integer (per million) |
|
tblSyndromeMutations |
primary key:
ky_syndrome_mutation_id integer |
cc_gene_type_source Character; Maximum length = 2 (see note 4)
|
ch_gene_name Character; Maximum length = 20
|
cc_mutation_type_source Character; Maximum length = 2 (see
note 5)
|
ky_syndrome_id integer |
ch_region_desc Character; Max length
= 14 (see note 6) |
ch_mutation_desc Character; Max
length = 40 |
int_chromosome integer (using 0
for mitochondrial DNA) |
int_onset integer (in molecular
bases) |
int_nucleotide_length integer
(see note 7) |
int_incidence integer (per
million) |
dt_start Date and Time - date first
effective |
dt_end Date and Time - date no
longer effective |
|
Notes: |
3. For the most part, a length of 6
characters suffices for syndrome abbreviations. |
Another
opportunity for a standard and alphabetic/logographic
awareness.
|
4. among the gene types currently in
use are unknown, protein-coding,
trisomy,
|
non-protein-coding, transposon, pseudo-gene, and
non-functional.
|
5. among the mutation types are
mosaic, trans-location; deletion, single nucleotide |
change; several types of nucleotide repeats and other. There is
no description for |
epigenetic variations yet. |
6. these take the form of either a
location or a range |
[a] 'm' for mitochondria with an offset required |
[b] p or q (short versus long arm) followed by up to five
characters of the form nn.nn |
[c] p or q as above followed by up to five characters as above
plus space dash space
|
followed by nn.nn |
note that for a jumped gene or a transposon this will describe
where the gene is as |
opposed to where it is supposed to be. |
7. this is the length in nucleotides
of the mutation - it would be a positive integer for |
repeats and a negative integer for deletes. How well this will
describe conditions such as |
mosaic rings remains to be seen |
|