Id |
Subject |
Object |
Predicate |
Lexical cue |
T8864 |
0-2 |
IN |
denotes |
In |
T8865 |
99-108 |
VBD |
denotes |
suggested |
T8866 |
3-5 |
DT |
denotes |
an |
T8867 |
14-25 |
NN |
denotes |
description |
T8868 |
6-13 |
JJ |
denotes |
initial |
T8869 |
26-28 |
IN |
denotes |
of |
T8870 |
29-32 |
DT |
denotes |
the |
T8871 |
33-43 |
NN |
denotes |
expression |
T8872 |
44-47 |
CC |
denotes |
and |
T8873 |
48-51 |
NN |
denotes |
map |
T8874 |
52-60 |
NN |
denotes |
location |
T8875 |
61-63 |
IN |
denotes |
of |
T8876 |
64-69 |
NN |
denotes |
mouse |
T8877 |
70-75 |
NN |
denotes |
Tbx15 |
T8878 |
75-77 |
, |
denotes |
, |
T8879 |
77-84 |
NNP |
denotes |
Agulnik |
T8880 |
85-87 |
FW |
denotes |
et |
T8881 |
88-91 |
FW |
denotes |
al. |
T8882 |
92-93 |
-LRB- |
denotes |
( |
T8883 |
93-97 |
CD |
denotes |
1998 |
T8884 |
97-98 |
-RRB- |
denotes |
) |
T8885 |
109-114 |
JJ |
denotes |
human |
T8886 |
115-120 |
NN |
denotes |
Tbx15 |
T8887 |
121-125 |
WDT |
denotes |
that |
T8888 |
126-130 |
VBZ |
denotes |
lies |
T8889 |
131-133 |
IN |
denotes |
on |
T8890 |
134-144 |
NN |
denotes |
Chromosome |
T8891 |
145-151 |
NN |
denotes |
1p11.1 |
T8892 |
152-154 |
IN |
denotes |
as |
T8893 |
155-156 |
DT |
denotes |
a |
T8894 |
157-166 |
NN |
denotes |
candidate |
T8895 |
167-170 |
IN |
denotes |
for |
T8896 |
171-183 |
JJ |
denotes |
acromegaloid |
T8897 |
191-201 |
NN |
denotes |
appearance |
T8898 |
184-190 |
JJ |
denotes |
facial |
T8899 |
208-216 |
NN |
denotes |
syndrome |
T8900 |
202-203 |
-LRB- |
denotes |
( |
T8901 |
203-206 |
NN |
denotes |
AFA |
T8902 |
206-207 |
-RRB- |
denotes |
) |
T8903 |
216-218 |
, |
denotes |
, |
T8904 |
218-221 |
IN |
denotes |
for |
T8905 |
234-236 |
VBZ |
denotes |
is |
T8906 |
222-227 |
WDT |
denotes |
which |
T8907 |
228-233 |
EX |
denotes |
there |
T8908 |
237-238 |
DT |
denotes |
a |
T8909 |
257-262 |
NN |
denotes |
score |
T8910 |
239-243 |
JJ |
denotes |
weak |
T8911 |
244-252 |
JJ |
denotes |
positive |
T8912 |
253-256 |
NN |
denotes |
LOD |
T8913 |
263-265 |
IN |
denotes |
to |
T8914 |
266-276 |
NN |
denotes |
Chromosome |
T8915 |
277-279 |
NN |
denotes |
1p |
T8916 |
280-281 |
-LRB- |
denotes |
( |
T8917 |
281-287 |
NNP |
denotes |
Hughes |
T8918 |
288-290 |
FW |
denotes |
et |
T8919 |
291-294 |
FW |
denotes |
al. |
T8920 |
295-299 |
CD |
denotes |
1985 |
T8921 |
299-300 |
-RRB- |
denotes |
) |
T8922 |
300-301 |
. |
denotes |
. |
T8923 |
301-675 |
sentence |
denotes |
Originally described as a rare autosomal-dominant syndrome with progressive facial coarsening, overgrowth of the intraoral mucosa, and large, doughy hands, more recent case reports describe macrosomia, macrocephaly, or both and generalized hypertrichosis with progressive coarsening (Dallapiccola et al. 1992; Irvine et al. 1996; da Silva et al. 1998; Zelante et al. 2000). |
T8924 |
302-312 |
RB |
denotes |
Originally |
T8925 |
313-322 |
VBN |
denotes |
described |
T8926 |
483-491 |
VBP |
denotes |
describe |
T8927 |
323-325 |
IN |
denotes |
as |
T8928 |
326-327 |
DT |
denotes |
a |
T8929 |
352-360 |
NN |
denotes |
syndrome |
T8930 |
328-332 |
JJ |
denotes |
rare |
T8931 |
333-342 |
JJ |
denotes |
autosomal |
T8932 |
343-351 |
JJ |
denotes |
dominant |
T8933 |
342-343 |
HYPH |
denotes |
- |
T8934 |
361-365 |
IN |
denotes |
with |
T8935 |
366-377 |
JJ |
denotes |
progressive |
T8936 |
385-395 |
NN |
denotes |
coarsening |
T8937 |
378-384 |
JJ |
denotes |
facial |
T8938 |
395-397 |
, |
denotes |
, |
T8939 |
397-407 |
NN |
denotes |
overgrowth |
T8940 |
408-410 |
IN |
denotes |
of |
T8941 |
411-414 |
DT |
denotes |
the |
T8942 |
425-431 |
NN |
denotes |
mucosa |
T8943 |
415-424 |
JJ |
denotes |
intraoral |
T8944 |
431-433 |
, |
denotes |
, |
T8945 |
433-436 |
CC |
denotes |
and |
T8946 |
437-442 |
JJ |
denotes |
large |
T8947 |
451-456 |
NNS |
denotes |
hands |
T8948 |
442-444 |
, |
denotes |
, |
T8949 |
444-450 |
JJ |
denotes |
doughy |
T8950 |
456-458 |
, |
denotes |
, |
T8951 |
458-462 |
RBR |
denotes |
more |
T8952 |
463-469 |
JJ |
denotes |
recent |
T8953 |
475-482 |
NNS |
denotes |
reports |
T8954 |
470-474 |
NN |
denotes |
case |
T8955 |
492-502 |
NN |
denotes |
macrosomia |
T8956 |
502-504 |
, |
denotes |
, |
T8957 |
504-516 |
NN |
denotes |
macrocephaly |
T8958 |
516-518 |
, |
denotes |
, |
T8959 |
518-520 |
CC |
denotes |
or |
T8960 |
521-525 |
DT |
denotes |
both |
T8961 |
526-529 |
CC |
denotes |
and |
T8962 |
530-541 |
VBN |
denotes |
generalized |
T8963 |
542-556 |
NN |
denotes |
hypertrichosis |
T8964 |
557-561 |
IN |
denotes |
with |
T8965 |
562-573 |
JJ |
denotes |
progressive |
T8966 |
574-584 |
NN |
denotes |
coarsening |
T8967 |
585-586 |
-LRB- |
denotes |
( |
T8968 |
586-598 |
NNP |
denotes |
Dallapiccola |
T8969 |
599-601 |
FW |
denotes |
et |
T8970 |
602-605 |
FW |
denotes |
al. |
T8971 |
606-610 |
CD |
denotes |
1992 |
T8972 |
610-611 |
: |
denotes |
; |
T8973 |
612-618 |
NNP |
denotes |
Irvine |
T8974 |
619-621 |
FW |
denotes |
et |
T8975 |
622-625 |
FW |
denotes |
al. |
T8976 |
626-630 |
CD |
denotes |
1996 |
T8977 |
630-631 |
: |
denotes |
; |
T8978 |
632-634 |
NNP |
denotes |
da |
T8979 |
635-640 |
NNP |
denotes |
Silva |
T8980 |
641-643 |
FW |
denotes |
et |
T8981 |
644-647 |
FW |
denotes |
al. |
T8982 |
648-652 |
CD |
denotes |
1998 |
T8983 |
652-653 |
: |
denotes |
; |
T8984 |
654-661 |
NNP |
denotes |
Zelante |
T8985 |
662-664 |
FW |
denotes |
et |
T8986 |
665-668 |
FW |
denotes |
al. |
T8987 |
669-673 |
CD |
denotes |
2000 |
T8988 |
673-674 |
-RRB- |
denotes |
) |
T8989 |
674-675 |
. |
denotes |
. |
T8990 |
675-985 |
sentence |
denotes |
The deH phenotype exhibits little overlap with these features; instead, we suggest a more likely candidate for mutations of human TBX15 would be frontofacionasal syndrome, an unmapped autosomal recessive condition characterized by brachycephaly, blepharophimosis, and midface hypoplasia (Reardon et al. 1994). |
T8991 |
676-679 |
DT |
denotes |
The |
T8992 |
684-693 |
NN |
denotes |
phenotype |
T8993 |
680-683 |
NN |
denotes |
deH |
T8994 |
694-702 |
VBZ |
denotes |
exhibits |
T8995 |
751-758 |
VBP |
denotes |
suggest |
T8996 |
703-709 |
JJ |
denotes |
little |
T8997 |
710-717 |
NN |
denotes |
overlap |
T8998 |
718-722 |
IN |
denotes |
with |
T8999 |
723-728 |
DT |
denotes |
these |
T9000 |
729-737 |
NNS |
denotes |
features |
T9001 |
737-738 |
: |
denotes |
; |
T9002 |
739-746 |
RB |
denotes |
instead |
T9003 |
746-748 |
, |
denotes |
, |
T9004 |
748-750 |
PRP |
denotes |
we |
T9005 |
759-760 |
DT |
denotes |
a |
T9006 |
773-782 |
NN |
denotes |
candidate |
T9007 |
761-765 |
RBR |
denotes |
more |
T9008 |
766-772 |
JJ |
denotes |
likely |
T9009 |
818-820 |
VB |
denotes |
be |
T9010 |
783-786 |
IN |
denotes |
for |
T9011 |
787-796 |
NNS |
denotes |
mutations |
T9012 |
797-799 |
IN |
denotes |
of |
T9013 |
800-805 |
JJ |
denotes |
human |
T9014 |
806-811 |
NN |
denotes |
TBX15 |
T9015 |
812-817 |
MD |
denotes |
would |
T9016 |
821-837 |
JJ |
denotes |
frontofacionasal |
T9017 |
838-846 |
NN |
denotes |
syndrome |
T9018 |
846-848 |
, |
denotes |
, |
T9019 |
848-850 |
DT |
denotes |
an |
T9020 |
880-889 |
NN |
denotes |
condition |
T9021 |
851-859 |
JJ |
denotes |
unmapped |
T9022 |
860-869 |
JJ |
denotes |
autosomal |
T9023 |
870-879 |
JJ |
denotes |
recessive |
T9024 |
890-903 |
VBN |
denotes |
characterized |
T9025 |
904-906 |
IN |
denotes |
by |
T9026 |
907-920 |
RB |
denotes |
brachycephaly |
T9027 |
920-922 |
, |
denotes |
, |
T9028 |
922-938 |
NN |
denotes |
blepharophimosis |
T9029 |
938-940 |
, |
denotes |
, |
T9030 |
940-943 |
CC |
denotes |
and |
T9031 |
944-951 |
JJ |
denotes |
midface |
T9032 |
952-962 |
NN |
denotes |
hypoplasia |
T9033 |
963-964 |
-LRB- |
denotes |
( |
T9034 |
964-971 |
NNP |
denotes |
Reardon |
T9035 |
972-974 |
FW |
denotes |
et |
T9036 |
975-978 |
FW |
denotes |
al. |
T9037 |
979-983 |
CD |
denotes |
1994 |
T9038 |
983-984 |
-RRB- |
denotes |
) |
T9039 |
984-985 |
. |
denotes |
. |
R6137 |
T8864 |
T8865 |
prep |
In,suggested |
R6138 |
T8866 |
T8867 |
det |
an,description |
R6139 |
T8867 |
T8864 |
pobj |
description,In |
R6140 |
T8868 |
T8867 |
amod |
initial,description |
R6141 |
T8869 |
T8867 |
prep |
of,description |
R6142 |
T8870 |
T8871 |
det |
the,expression |
R6143 |
T8871 |
T8869 |
pobj |
expression,of |
R6144 |
T8872 |
T8871 |
cc |
and,expression |
R6145 |
T8873 |
T8874 |
compound |
map,location |
R6146 |
T8874 |
T8871 |
conj |
location,expression |
R6147 |
T8875 |
T8871 |
prep |
of,expression |
R6148 |
T8876 |
T8877 |
compound |
mouse,Tbx15 |
R6149 |
T8877 |
T8875 |
pobj |
Tbx15,of |
R6150 |
T8878 |
T8865 |
punct |
", ",suggested |
R6151 |
T8879 |
T8865 |
nsubj |
Agulnik,suggested |
R6152 |
T8880 |
T8881 |
advmod |
et,al. |
R6153 |
T8881 |
T8879 |
advmod |
al.,Agulnik |
R6154 |
T8882 |
T8879 |
punct |
(,Agulnik |
R6155 |
T8883 |
T8879 |
npadvmod |
1998,Agulnik |
R6156 |
T8884 |
T8879 |
punct |
),Agulnik |
R6157 |
T8885 |
T8886 |
amod |
human,Tbx15 |
R6158 |
T8886 |
T8865 |
dobj |
Tbx15,suggested |
R6159 |
T8887 |
T8888 |
dep |
that,lies |
R6160 |
T8888 |
T8886 |
relcl |
lies,Tbx15 |
R6161 |
T8889 |
T8888 |
prep |
on,lies |
R6162 |
T8890 |
T8891 |
compound |
Chromosome,1p11.1 |
R6163 |
T8891 |
T8889 |
pobj |
1p11.1,on |
R6164 |
T8892 |
T8865 |
prep |
as,suggested |
R6165 |
T8893 |
T8894 |
det |
a,candidate |
R6166 |
T8894 |
T8892 |
pobj |
candidate,as |
R6167 |
T8895 |
T8894 |
prep |
for,candidate |
R6168 |
T8896 |
T8897 |
amod |
acromegaloid,appearance |
R6169 |
T8897 |
T8899 |
nmod |
appearance,syndrome |
R6170 |
T8898 |
T8897 |
amod |
facial,appearance |
R6171 |
T8899 |
T8895 |
pobj |
syndrome,for |
R6172 |
T8900 |
T8897 |
punct |
(,appearance |
R6173 |
T8901 |
T8897 |
appos |
AFA,appearance |
R6174 |
T8902 |
T8899 |
punct |
),syndrome |
R6175 |
T8903 |
T8899 |
punct |
", ",syndrome |
R6176 |
T8904 |
T8905 |
prep |
for,is |
R6177 |
T8905 |
T8899 |
relcl |
is,syndrome |
R6178 |
T8906 |
T8904 |
pobj |
which,for |
R6179 |
T8907 |
T8905 |
expl |
there,is |
R6180 |
T8908 |
T8909 |
det |
a,score |
R6181 |
T8909 |
T8905 |
attr |
score,is |
R6182 |
T8910 |
T8909 |
amod |
weak,score |
R6183 |
T8911 |
T8909 |
amod |
positive,score |
R6184 |
T8912 |
T8909 |
compound |
LOD,score |
R6185 |
T8913 |
T8909 |
prep |
to,score |
R6186 |
T8914 |
T8915 |
compound |
Chromosome,1p |
R6187 |
T8915 |
T8913 |
pobj |
1p,to |
R6188 |
T8916 |
T8917 |
punct |
(,Hughes |
R6189 |
T8917 |
T8905 |
meta |
Hughes,is |
R6190 |
T8918 |
T8917 |
nmod |
et,Hughes |
R6191 |
T8919 |
T8917 |
nmod |
al.,Hughes |
R6192 |
T8920 |
T8917 |
nummod |
1985,Hughes |
R6193 |
T8921 |
T8917 |
punct |
),Hughes |
R6194 |
T8922 |
T8865 |
punct |
.,suggested |
R6195 |
T8924 |
T8925 |
advmod |
Originally,described |
R6196 |
T8925 |
T8926 |
advcl |
described,describe |
R6197 |
T8927 |
T8925 |
prep |
as,described |
R6198 |
T8928 |
T8929 |
det |
a,syndrome |
R6199 |
T8929 |
T8927 |
pobj |
syndrome,as |
R6200 |
T8930 |
T8929 |
amod |
rare,syndrome |
R6201 |
T8931 |
T8932 |
amod |
autosomal,dominant |
R6202 |
T8932 |
T8929 |
amod |
dominant,syndrome |
R6203 |
T8933 |
T8932 |
punct |
-,dominant |
R6204 |
T8934 |
T8929 |
prep |
with,syndrome |
R6205 |
T8935 |
T8936 |
amod |
progressive,coarsening |
R6206 |
T8936 |
T8934 |
pobj |
coarsening,with |
R6207 |
T8937 |
T8936 |
amod |
facial,coarsening |
R6208 |
T8938 |
T8936 |
punct |
", ",coarsening |
R6209 |
T8939 |
T8936 |
conj |
overgrowth,coarsening |
R6210 |
T8940 |
T8939 |
prep |
of,overgrowth |
R6211 |
T8941 |
T8942 |
det |
the,mucosa |
R6212 |
T8942 |
T8940 |
pobj |
mucosa,of |
R6213 |
T8943 |
T8942 |
amod |
intraoral,mucosa |
R6214 |
T8944 |
T8939 |
punct |
", ",overgrowth |
R6215 |
T8945 |
T8939 |
cc |
and,overgrowth |
R6216 |
T8946 |
T8947 |
amod |
large,hands |
R6217 |
T8947 |
T8939 |
conj |
hands,overgrowth |
R6218 |
T8948 |
T8947 |
punct |
", ",hands |
R6219 |
T8949 |
T8947 |
amod |
doughy,hands |
R6220 |
T8950 |
T8926 |
punct |
", ",describe |
R6221 |
T8951 |
T8952 |
advmod |
more,recent |
R6222 |
T8952 |
T8953 |
amod |
recent,reports |
R6223 |
T8953 |
T8926 |
nsubj |
reports,describe |
R6224 |
T8954 |
T8953 |
compound |
case,reports |
R6225 |
T8955 |
T8926 |
dobj |
macrosomia,describe |
R6226 |
T8956 |
T8955 |
punct |
", ",macrosomia |
R6227 |
T8957 |
T8955 |
conj |
macrocephaly,macrosomia |
R6228 |
T8958 |
T8957 |
punct |
", ",macrocephaly |
R6229 |
T8959 |
T8957 |
cc |
or,macrocephaly |
R6230 |
T8960 |
T8957 |
conj |
both,macrocephaly |
R6231 |
T8961 |
T8955 |
cc |
and,macrosomia |
R6232 |
T8962 |
T8963 |
amod |
generalized,hypertrichosis |
R6233 |
T8963 |
T8955 |
conj |
hypertrichosis,macrosomia |
R6234 |
T8964 |
T8926 |
prep |
with,describe |
R6235 |
T8965 |
T8966 |
amod |
progressive,coarsening |
R6236 |
T8966 |
T8964 |
pobj |
coarsening,with |
R6237 |
T8967 |
T8968 |
punct |
(,Dallapiccola |
R6238 |
T8968 |
T8926 |
meta |
Dallapiccola,describe |
R6239 |
T8969 |
T8968 |
nmod |
et,Dallapiccola |
R6240 |
T8970 |
T8968 |
nmod |
al.,Dallapiccola |
R6241 |
T8971 |
T8968 |
nummod |
1992,Dallapiccola |
R6242 |
T8972 |
T8968 |
punct |
;,Dallapiccola |
R6243 |
T8973 |
T8968 |
nmod |
Irvine,Dallapiccola |
R6244 |
T8974 |
T8968 |
nmod |
et,Dallapiccola |
R6245 |
T8975 |
T8968 |
nmod |
al.,Dallapiccola |
R6246 |
T8976 |
T8968 |
nummod |
1996,Dallapiccola |
R6247 |
T8977 |
T8968 |
punct |
;,Dallapiccola |
R6248 |
T8978 |
T8968 |
nmod |
da,Dallapiccola |
R6249 |
T8979 |
T8968 |
nmod |
Silva,Dallapiccola |
R6250 |
T8980 |
T8968 |
nmod |
et,Dallapiccola |
R6251 |
T8981 |
T8968 |
nmod |
al.,Dallapiccola |
R6252 |
T8982 |
T8968 |
nummod |
1998,Dallapiccola |
R6253 |
T8983 |
T8968 |
punct |
;,Dallapiccola |
R6254 |
T8984 |
T8968 |
nmod |
Zelante,Dallapiccola |
R6255 |
T8985 |
T8968 |
nmod |
et,Dallapiccola |
R6256 |
T8986 |
T8968 |
nmod |
al.,Dallapiccola |
R6257 |
T8987 |
T8968 |
nummod |
2000,Dallapiccola |
R6258 |
T8988 |
T8968 |
punct |
),Dallapiccola |
R6259 |
T8989 |
T8926 |
punct |
.,describe |
R6260 |
T8991 |
T8992 |
det |
The,phenotype |
R6261 |
T8992 |
T8994 |
nsubj |
phenotype,exhibits |
R6262 |
T8993 |
T8992 |
compound |
deH,phenotype |
R6263 |
T8994 |
T8995 |
ccomp |
exhibits,suggest |
R6264 |
T8996 |
T8997 |
amod |
little,overlap |
R6265 |
T8997 |
T8994 |
dobj |
overlap,exhibits |
R6266 |
T8998 |
T8997 |
prep |
with,overlap |
R6267 |
T8999 |
T9000 |
det |
these,features |
R6268 |
T9000 |
T8998 |
pobj |
features,with |
R6269 |
T9001 |
T8995 |
punct |
;,suggest |
R6270 |
T9002 |
T8995 |
advmod |
instead,suggest |
R6271 |
T9003 |
T8995 |
punct |
", ",suggest |
R6272 |
T9004 |
T8995 |
nsubj |
we,suggest |
R6273 |
T9005 |
T9006 |
det |
a,candidate |
R6274 |
T9006 |
T9009 |
nsubj |
candidate,be |
R6275 |
T9007 |
T9008 |
advmod |
more,likely |
R6276 |
T9008 |
T9006 |
amod |
likely,candidate |
R6277 |
T9009 |
T8995 |
advcl |
be,suggest |
R6278 |
T9010 |
T9006 |
prep |
for,candidate |
R6279 |
T9011 |
T9010 |
pobj |
mutations,for |
R6280 |
T9012 |
T9011 |
prep |
of,mutations |
R6281 |
T9013 |
T9014 |
amod |
human,TBX15 |
R6282 |
T9014 |
T9012 |
pobj |
TBX15,of |
R6283 |
T9015 |
T9009 |
aux |
would,be |
R6284 |
T9016 |
T9017 |
amod |
frontofacionasal,syndrome |
R6285 |
T9017 |
T9009 |
attr |
syndrome,be |
R6286 |
T9018 |
T9017 |
punct |
", ",syndrome |
R6287 |
T9019 |
T9020 |
det |
an,condition |
R6288 |
T9020 |
T9017 |
appos |
condition,syndrome |
R6289 |
T9021 |
T9020 |
amod |
unmapped,condition |
R6290 |
T9022 |
T9020 |
amod |
autosomal,condition |
R6291 |
T9023 |
T9020 |
amod |
recessive,condition |
R6292 |
T9024 |
T9020 |
acl |
characterized,condition |
R6293 |
T9025 |
T9024 |
agent |
by,characterized |
R6294 |
T9026 |
T9025 |
pobj |
brachycephaly,by |
R6295 |
T9027 |
T9026 |
punct |
", ",brachycephaly |
R6296 |
T9028 |
T9026 |
conj |
blepharophimosis,brachycephaly |
R6297 |
T9029 |
T9028 |
punct |
", ",blepharophimosis |
R6298 |
T9030 |
T9028 |
cc |
and,blepharophimosis |
R6299 |
T9031 |
T9032 |
amod |
midface,hypoplasia |
R6300 |
T9032 |
T9028 |
conj |
hypoplasia,blepharophimosis |
R6301 |
T9033 |
T9034 |
punct |
(,Reardon |
R6302 |
T9034 |
T9024 |
meta |
Reardon,characterized |
R6303 |
T9035 |
T9034 |
nmod |
et,Reardon |
R6304 |
T9036 |
T9034 |
nmod |
al.,Reardon |
R6305 |
T9037 |
T9034 |
nummod |
1994,Reardon |
R6306 |
T9038 |
T9034 |
punct |
),Reardon |
R6307 |
T9039 |
T8995 |
punct |
.,suggest |