| 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 |
| |