| Id |
Subject |
Object |
Predicate |
Lexical cue |
#label |
ID: |
| T5661 |
0-23 |
DiseaseOrPhenotypicFeature |
denotes |
Focal dermal hypoplasia |
D005489 |
|
| T95332 |
64-71 |
SequenceVariant |
denotes |
p.E300X |
|
|
| T52925 |
80-85 |
GeneOrGeneProduct |
denotes |
PORCN |
|
|
| T43485 |
104-127 |
DiseaseOrPhenotypicFeature |
denotes |
Focal dermal hypoplasia |
D005489 |
|
| T3705 |
129-132 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
D005489 |
|
| T69872 |
135-146 |
DiseaseOrPhenotypicFeature |
denotes |
OMIM 305600 |
DISEASE |
|
| T3978 |
154-180 |
DiseaseOrPhenotypicFeature |
denotes |
X-linked dominant disorder |
DISEASE |
|
| T37100 |
184-188 |
GeneOrGeneProduct |
denotes |
ecto |
|
|
| T61636 |
227-241 |
DiseaseOrPhenotypicFeature |
denotes |
Goltz syndrome |
D005489 |
|
| T8929 |
243-246 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
D005489 |
|
| T39803 |
294-312 |
DiseaseOrPhenotypicFeature |
denotes |
hypoplastic dermis |
DISEASE |
|
| T53621 |
408-411 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
D005489 |
|
| T3 |
438-443 |
GeneOrGeneProduct |
denotes |
PORCN |
|
|
| T10 |
633-636 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
D005489 |
|
| T11 |
691-700 |
DiseaseOrPhenotypicFeature |
denotes |
depressed |
DISEASE |
|
| T45332 |
702-706 |
GeneOrGeneProduct |
denotes |
pale |
|
|
| T12 |
714-719 |
DiseaseOrPhenotypicFeature |
denotes |
scars |
D002921 |
|
| T5 |
727-732 |
GeneOrGeneProduct |
denotes |
trunk |
|
|
| T6 |
744-750 |
GeneOrGeneProduct |
denotes |
sparse |
|
|
| T13 |
765-775 |
DiseaseOrPhenotypicFeature |
denotes |
syndactyly |
D013576 |
|
| T7 |
800-804 |
GeneOrGeneProduct |
denotes |
ring |
|
|
| T14 |
814-827 |
DiseaseOrPhenotypicFeature |
denotes |
dental caries |
D003731 |
|
| T8 |
997-1002 |
GeneOrGeneProduct |
denotes |
PORCN |
|
|
| T1 |
1138-1159 |
ChemicalEntity |
denotes |
glutamic acid residue |
|
http://purl.obolibrary.org/obo/CHEBI_32483 |
| T2 |
1161-1164 |
ChemicalEntity |
denotes |
GAA |
|
http://purl.obolibrary.org/obo/CHEBI_32483|http://purl.obolibrary.org/obo/CHEBI_144460 |
| T4 |
1200-1203 |
ChemicalEntity |
denotes |
TAA |
|
http://purl.obolibrary.org/obo/CHEBI_32497|http://purl.obolibrary.org/obo/CHEBI_73654 |
| T23310 |
1232-1239 |
SequenceVariant |
denotes |
p.E300X |
|
|
| T15 |
1406-1409 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
D005489 |
|
| T9 |
1466-1471 |
GeneOrGeneProduct |
denotes |
PORCN |
|
|
