Orphanet is a database of information on rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases.
Keywords: disease,drug,human
Homepage: http://www.orpha.net/consor/cgi-bin/home.php?Lng=GB
Organization: Orphanet
License: license
Identifier Regex Pattern: ^\d+$
SPARQL Endpoint URL: http://cu.orphanet.bio2rdf.org/sparql
Faceted Browser URL: http://cu.orphanet.bio2rdf.org/fct
Conversion Script URL: http://github.com/bio2rdf/bio2rdf-scripts/tree/master/orphanet
Download URL: http://download.bio2rdf.org/#/release/3/orphanet
| Triples | 377947 |
| Distinct Entities | 28871 |
| Distinct Properties | 38 |
| Distinct Subjects | 28871 |
| Distinct Objects | 42891 |
| Distinct Literals | 144773 |
| Distinct Types | 19 |
| Type | Count |
|---|---|
| Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
3331 |
| orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
20652 |
| orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
20652 |
| orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
20652 |
| icd10 resource [icd10_vocabulary:Resource] http://bio2rdf.org/icd10_vocabulary:Resource |
664 |
| meddra resource [meddra_vocabulary:Resource] http://bio2rdf.org/meddra_vocabulary:Resource |
144 |
| mesh resource [mesh_vocabulary:Resource] http://bio2rdf.org/mesh_vocabulary:Resource |
377 |
| obi resource [obi_vocabulary:Resource] http://bio2rdf.org/obi_vocabulary:Resource |
1 |
| omim resource [omim_vocabulary:Resource] http://bio2rdf.org/omim_vocabulary:Resource |
3071 |
| Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
6930 |
| snomedct resource [snomedct_vocabulary:Resource] http://bio2rdf.org/snomedct_vocabulary:Resource |
587 |
| umls resource [umls_vocabulary:Resource] http://bio2rdf.org/umls_vocabulary:Resource |
275 |
| ensembl resource [ensembl_vocabulary:Resource] http://bio2rdf.org/ensembl_vocabulary:Resource |
2051 |
| genatlas resource [genatlas_vocabulary:Resource] http://bio2rdf.org/genatlas_vocabulary:Resource |
213 |
| hgnc resource [hgnc_vocabulary:Resource] http://bio2rdf.org/hgnc_vocabulary:Resource |
243 |
| iuphar resource [iuphar_vocabulary:Resource] http://bio2rdf.org/iuphar_vocabulary:Resource |
165 |
| Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
4750 |
| Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
116 |
| Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
435 |
| Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
29 |
| Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
25 |
| Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
169 |
| Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
195 |
| Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
88 |
| orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
3164 |
| reactome resource [reactome_vocabulary:Resource] http://bio2rdf.org/reactome_vocabulary:Resource |
300 |
| uniprot resource [uniprot_vocabulary:Resource] http://bio2rdf.org/uniprot_vocabulary:Resource |
103 |
| http://www.w3.org/2002/07/owl#ObjectProperty | 24 |
| http://www.w3.org/2002/07/owl#DatatypeProperty | 9 |
| http://www.w3.org/2000/01/rdf-schema#Resource | 14 |
| http://www.w3.org/2002/07/owl#Class | 1398 |
| Unique Objects | Total Objects | Subject Type | Property |
|---|
| Total Subjects | Distinct Subjects | Subject Type | Property | Object Type | Distinct Objects | Total Objects |
|---|---|---|---|---|---|---|
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2780 | 4750 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2780 | 4750 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2780 | 4750 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
278 | 435 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
278 | 435 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
278 | 435 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
24 | 29 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
24 | 29 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
24 | 29 |
| 50625 | 2595 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 2987 | 2987 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 3331 | 3331 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 3331 | 3331 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1265 | 3331 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
54 | 88 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
54 | 88 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
54 | 88 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3121 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3121 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3121 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3121 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3121 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3121 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3121 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3121 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3121 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 5807 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
23 | 29 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
23 | 29 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
23 | 29 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 435 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 435 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 435 |
| 3331 | 3331 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
17 | 25 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
17 | 25 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
17 | 25 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
51 | 169 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
51 | 169 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
51 | 169 |
| 4240 | 4240 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2815 | 4750 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2815 | 4750 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2815 | 4750 |
| 2987 | 2987 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 2987 | 2987 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
6 | 2987 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3164 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3164 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3164 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3164 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3164 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3164 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3164 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3164 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3164 | 5807 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
186 | 435 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
186 | 435 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
186 | 435 |
| 50625 | 2595 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
3331 | 50625 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 4750 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 4750 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 4750 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 88 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 88 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 88 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 29 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 29 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 29 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
78 | 88 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
78 | 88 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
78 | 88 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
12 | 25 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
12 | 25 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
12 | 25 |
| 50625 | 2595 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
3331 | 50625 |
| 50625 | 2595 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
3331 | 50625 |
| 50625 | 2595 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
3331 | 50625 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3 | 3331 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 116 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 116 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 116 |
| 50625 | 2595 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 50625 | 2595 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
sign freq [orphanet_vocabulary:sign-freq] http://bio2rdf.org/orphanet_vocabulary:sign-freq |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
3331 | 50625 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
60 | 116 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
60 | 116 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
60 | 116 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
108 | 195 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
108 | 195 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
108 | 195 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 195 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 195 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 195 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 25 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 25 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 25 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
126 | 169 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
126 | 169 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
126 | 169 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
156 | 195 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
156 | 195 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
156 | 195 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
76 | 116 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
76 | 116 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
76 | 116 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 169 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 169 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
2 | 169 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 88 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 88 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 88 |
| 1359 | 1359 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 435 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 435 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 435 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 3331 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 3331 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 3331 |
| 3164 | 3164 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 3164 |
| 3164 | 3164 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 3164 |
| 3164 | 3164 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 3164 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 4750 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 4750 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 4750 |
| 19232 | 19232 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
11 | 19232 |
| 19232 | 19232 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
11 | 19232 |
| 19232 | 19232 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
11 | 19232 |
| 19232 | 19232 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
11 | 19232 |
| 19232 | 19232 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
11 | 19232 |
| 19232 | 19232 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
11 | 19232 |
| 19232 | 19232 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
11 | 19232 |
| 19232 | 19232 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
11 | 19232 |
| 19232 | 19232 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
11 | 19232 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 29 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 29 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 29 |
| 6930 | 6930 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 6930 |
| 6930 | 6930 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 6930 |
| 6930 | 6930 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 6930 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 116 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 116 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 116 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 25 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 25 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 25 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 195 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 195 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 195 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 169 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 169 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
1 | 169 |
| 144 | 144 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x meddra [orphanet_vocabulary:x-meddra] http://bio2rdf.org/orphanet_vocabulary:x-meddra |
meddra resource [meddra_vocabulary:Resource] http://bio2rdf.org/meddra_vocabulary:Resource |
144 | 144 |
| 144 | 144 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x meddra [orphanet_vocabulary:x-meddra] http://bio2rdf.org/orphanet_vocabulary:x-meddra |
meddra resource [meddra_vocabulary:Resource] http://bio2rdf.org/meddra_vocabulary:Resource |
144 | 144 |
| 144 | 144 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x meddra [orphanet_vocabulary:x-meddra] http://bio2rdf.org/orphanet_vocabulary:x-meddra |
meddra resource [meddra_vocabulary:Resource] http://bio2rdf.org/meddra_vocabulary:Resource |
144 | 144 |
| 300 | 300 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x reactome [orphanet_vocabulary:x-reactome] http://bio2rdf.org/orphanet_vocabulary:x-reactome |
reactome resource [reactome_vocabulary:Resource] http://bio2rdf.org/reactome_vocabulary:Resource |
300 | 300 |
| 300 | 300 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x reactome [orphanet_vocabulary:x-reactome] http://bio2rdf.org/orphanet_vocabulary:x-reactome |
reactome resource [reactome_vocabulary:Resource] http://bio2rdf.org/reactome_vocabulary:Resource |
300 | 300 |
| 300 | 300 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x reactome [orphanet_vocabulary:x-reactome] http://bio2rdf.org/orphanet_vocabulary:x-reactome |
reactome resource [reactome_vocabulary:Resource] http://bio2rdf.org/reactome_vocabulary:Resource |
300 | 300 |
| 1825 | 1825 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
x icd10 [orphanet_vocabulary:x-icd10] http://bio2rdf.org/orphanet_vocabulary:x-icd10 |
icd10 resource [icd10_vocabulary:Resource] http://bio2rdf.org/icd10_vocabulary:Resource |
664 | 1825 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
23 | 29 |
| 103 | 103 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x uniprot [orphanet_vocabulary:x-uniprot] http://bio2rdf.org/orphanet_vocabulary:x-uniprot |
uniprot resource [uniprot_vocabulary:Resource] http://bio2rdf.org/uniprot_vocabulary:Resource |
103 | 103 |
| 103 | 103 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x uniprot [orphanet_vocabulary:x-uniprot] http://bio2rdf.org/orphanet_vocabulary:x-uniprot |
uniprot resource [uniprot_vocabulary:Resource] http://bio2rdf.org/uniprot_vocabulary:Resource |
103 | 103 |
| 103 | 103 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x uniprot [orphanet_vocabulary:x-uniprot] http://bio2rdf.org/orphanet_vocabulary:x-uniprot |
uniprot resource [uniprot_vocabulary:Resource] http://bio2rdf.org/uniprot_vocabulary:Resource |
103 | 103 |
| 144 | 144 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
x meddra [orphanet_vocabulary:x-meddra] http://bio2rdf.org/orphanet_vocabulary:x-meddra |
meddra resource [meddra_vocabulary:Resource] http://bio2rdf.org/meddra_vocabulary:Resource |
144 | 144 |
| 165 | 165 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x iuphar [orphanet_vocabulary:x-iuphar] http://bio2rdf.org/orphanet_vocabulary:x-iuphar |
iuphar resource [iuphar_vocabulary:Resource] http://bio2rdf.org/iuphar_vocabulary:Resource |
165 | 165 |
| 165 | 165 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x iuphar [orphanet_vocabulary:x-iuphar] http://bio2rdf.org/orphanet_vocabulary:x-iuphar |
iuphar resource [iuphar_vocabulary:Resource] http://bio2rdf.org/iuphar_vocabulary:Resource |
165 | 165 |
| 165 | 165 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x iuphar [orphanet_vocabulary:x-iuphar] http://bio2rdf.org/orphanet_vocabulary:x-iuphar |
iuphar resource [iuphar_vocabulary:Resource] http://bio2rdf.org/iuphar_vocabulary:Resource |
165 | 165 |
| 3271 | 3271 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x omim [orphanet_vocabulary:x-omim] http://bio2rdf.org/orphanet_vocabulary:x-omim |
omim resource [omim_vocabulary:Resource] http://bio2rdf.org/omim_vocabulary:Resource |
3071 | 3271 |
| 3271 | 3271 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x omim [orphanet_vocabulary:x-omim] http://bio2rdf.org/orphanet_vocabulary:x-omim |
omim resource [omim_vocabulary:Resource] http://bio2rdf.org/omim_vocabulary:Resource |
3071 | 3271 |
| 3271 | 3271 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x omim [orphanet_vocabulary:x-omim] http://bio2rdf.org/orphanet_vocabulary:x-omim |
omim resource [omim_vocabulary:Resource] http://bio2rdf.org/omim_vocabulary:Resource |
3071 | 3271 |
| 243 | 243 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
x hgnc [orphanet_vocabulary:x-hgnc] http://bio2rdf.org/orphanet_vocabulary:x-hgnc |
hgnc resource [hgnc_vocabulary:Resource] http://bio2rdf.org/hgnc_vocabulary:Resource |
243 | 243 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
24 | 29 |
| 275 | 275 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x umls [orphanet_vocabulary:x-umls] http://bio2rdf.org/orphanet_vocabulary:x-umls |
umls resource [umls_vocabulary:Resource] http://bio2rdf.org/umls_vocabulary:Resource |
275 | 275 |
| 275 | 275 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x umls [orphanet_vocabulary:x-umls] http://bio2rdf.org/orphanet_vocabulary:x-umls |
umls resource [umls_vocabulary:Resource] http://bio2rdf.org/umls_vocabulary:Resource |
275 | 275 |
| 275 | 275 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x umls [orphanet_vocabulary:x-umls] http://bio2rdf.org/orphanet_vocabulary:x-umls |
umls resource [umls_vocabulary:Resource] http://bio2rdf.org/umls_vocabulary:Resource |
275 | 275 |
| 165 | 165 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
x iuphar [orphanet_vocabulary:x-iuphar] http://bio2rdf.org/orphanet_vocabulary:x-iuphar |
iuphar resource [iuphar_vocabulary:Resource] http://bio2rdf.org/iuphar_vocabulary:Resource |
165 | 165 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
3164 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
3164 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
3164 | 5807 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
278 | 435 |
| 377 | 377 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x mesh [orphanet_vocabulary:x-mesh] http://bio2rdf.org/orphanet_vocabulary:x-mesh |
mesh resource [mesh_vocabulary:Resource] http://bio2rdf.org/mesh_vocabulary:Resource |
377 | 377 |
| 377 | 377 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x mesh [orphanet_vocabulary:x-mesh] http://bio2rdf.org/orphanet_vocabulary:x-mesh |
mesh resource [mesh_vocabulary:Resource] http://bio2rdf.org/mesh_vocabulary:Resource |
377 | 377 |
| 377 | 377 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x mesh [orphanet_vocabulary:x-mesh] http://bio2rdf.org/orphanet_vocabulary:x-mesh |
mesh resource [mesh_vocabulary:Resource] http://bio2rdf.org/mesh_vocabulary:Resource |
377 | 377 |
| 1825 | 1825 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x icd10 [orphanet_vocabulary:x-icd10] http://bio2rdf.org/orphanet_vocabulary:x-icd10 |
icd10 resource [icd10_vocabulary:Resource] http://bio2rdf.org/icd10_vocabulary:Resource |
664 | 1825 |
| 1825 | 1825 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x icd10 [orphanet_vocabulary:x-icd10] http://bio2rdf.org/orphanet_vocabulary:x-icd10 |
icd10 resource [icd10_vocabulary:Resource] http://bio2rdf.org/icd10_vocabulary:Resource |
664 | 1825 |
| 1825 | 1825 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x icd10 [orphanet_vocabulary:x-icd10] http://bio2rdf.org/orphanet_vocabulary:x-icd10 |
icd10 resource [icd10_vocabulary:Resource] http://bio2rdf.org/icd10_vocabulary:Resource |
664 | 1825 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
2780 | 4750 |
| 300 | 300 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
x reactome [orphanet_vocabulary:x-reactome] http://bio2rdf.org/orphanet_vocabulary:x-reactome |
reactome resource [reactome_vocabulary:Resource] http://bio2rdf.org/reactome_vocabulary:Resource |
300 | 300 |
| 213 | 213 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
x genatlas [orphanet_vocabulary:x-genatlas] http://bio2rdf.org/orphanet_vocabulary:x-genatlas |
genatlas resource [genatlas_vocabulary:Resource] http://bio2rdf.org/genatlas_vocabulary:Resource |
213 | 213 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
2815 | 4750 |
| 213 | 213 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x genatlas [orphanet_vocabulary:x-genatlas] http://bio2rdf.org/orphanet_vocabulary:x-genatlas |
genatlas resource [genatlas_vocabulary:Resource] http://bio2rdf.org/genatlas_vocabulary:Resource |
213 | 213 |
| 213 | 213 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x genatlas [orphanet_vocabulary:x-genatlas] http://bio2rdf.org/orphanet_vocabulary:x-genatlas |
genatlas resource [genatlas_vocabulary:Resource] http://bio2rdf.org/genatlas_vocabulary:Resource |
213 | 213 |
| 213 | 213 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x genatlas [orphanet_vocabulary:x-genatlas] http://bio2rdf.org/orphanet_vocabulary:x-genatlas |
genatlas resource [genatlas_vocabulary:Resource] http://bio2rdf.org/genatlas_vocabulary:Resource |
213 | 213 |
| 3183 | 3183 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
x omim [orphanet_vocabulary:x-omim] http://bio2rdf.org/orphanet_vocabulary:x-omim |
omim resource [omim_vocabulary:Resource] http://bio2rdf.org/omim_vocabulary:Resource |
2983 | 3183 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
78 | 88 |
| 4240 | 4240 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 4240 | 4240 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
9 | 4240 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
54 | 88 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
186 | 435 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
3121 | 5807 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
3121 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
3121 | 5807 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
12 | 25 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
156 | 195 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
126 | 169 |
| 2051 | 2051 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
x ensembl [orphanet_vocabulary:x-ensembl] http://bio2rdf.org/orphanet_vocabulary:x-ensembl |
ensembl resource [ensembl_vocabulary:Resource] http://bio2rdf.org/ensembl_vocabulary:Resource |
2051 | 2051 |
| 594 | 594 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x snomedct [orphanet_vocabulary:x-snomedct] http://bio2rdf.org/orphanet_vocabulary:x-snomedct |
snomedct resource [snomedct_vocabulary:Resource] http://bio2rdf.org/snomedct_vocabulary:Resource |
587 | 594 |
| 594 | 594 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x snomedct [orphanet_vocabulary:x-snomedct] http://bio2rdf.org/orphanet_vocabulary:x-snomedct |
snomedct resource [snomedct_vocabulary:Resource] http://bio2rdf.org/snomedct_vocabulary:Resource |
587 | 594 |
| 594 | 594 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x snomedct [orphanet_vocabulary:x-snomedct] http://bio2rdf.org/orphanet_vocabulary:x-snomedct |
snomedct resource [snomedct_vocabulary:Resource] http://bio2rdf.org/snomedct_vocabulary:Resource |
587 | 594 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
51 | 169 |
| 88 | 88 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
x omim [orphanet_vocabulary:x-omim] http://bio2rdf.org/orphanet_vocabulary:x-omim |
omim resource [omim_vocabulary:Resource] http://bio2rdf.org/omim_vocabulary:Resource |
88 | 88 |
| 533 | 533 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x obi [orphanet_vocabulary:x-obi] http://bio2rdf.org/orphanet_vocabulary:x-obi |
obi resource [obi_vocabulary:Resource] http://bio2rdf.org/obi_vocabulary:Resource |
1 | 533 |
| 533 | 533 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x obi [orphanet_vocabulary:x-obi] http://bio2rdf.org/orphanet_vocabulary:x-obi |
obi resource [obi_vocabulary:Resource] http://bio2rdf.org/obi_vocabulary:Resource |
1 | 533 |
| 533 | 533 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x obi [orphanet_vocabulary:x-obi] http://bio2rdf.org/orphanet_vocabulary:x-obi |
obi resource [obi_vocabulary:Resource] http://bio2rdf.org/obi_vocabulary:Resource |
1 | 533 |
| 532 | 532 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
x obi [orphanet_vocabulary:x-obi] http://bio2rdf.org/orphanet_vocabulary:x-obi |
obi resource [obi_vocabulary:Resource] http://bio2rdf.org/obi_vocabulary:Resource |
1 | 532 |
| 275 | 275 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
x umls [orphanet_vocabulary:x-umls] http://bio2rdf.org/orphanet_vocabulary:x-umls |
umls resource [umls_vocabulary:Resource] http://bio2rdf.org/umls_vocabulary:Resource |
275 | 275 |
| 2051 | 2051 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x ensembl [orphanet_vocabulary:x-ensembl] http://bio2rdf.org/orphanet_vocabulary:x-ensembl |
ensembl resource [ensembl_vocabulary:Resource] http://bio2rdf.org/ensembl_vocabulary:Resource |
2051 | 2051 |
| 2051 | 2051 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x ensembl [orphanet_vocabulary:x-ensembl] http://bio2rdf.org/orphanet_vocabulary:x-ensembl |
ensembl resource [ensembl_vocabulary:Resource] http://bio2rdf.org/ensembl_vocabulary:Resource |
2051 | 2051 |
| 2051 | 2051 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x ensembl [orphanet_vocabulary:x-ensembl] http://bio2rdf.org/orphanet_vocabulary:x-ensembl |
ensembl resource [ensembl_vocabulary:Resource] http://bio2rdf.org/ensembl_vocabulary:Resource |
2051 | 2051 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
60 | 116 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
108 | 195 |
| 243 | 243 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x hgnc [orphanet_vocabulary:x-hgnc] http://bio2rdf.org/orphanet_vocabulary:x-hgnc |
hgnc resource [hgnc_vocabulary:Resource] http://bio2rdf.org/hgnc_vocabulary:Resource |
243 | 243 |
| 243 | 243 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x hgnc [orphanet_vocabulary:x-hgnc] http://bio2rdf.org/orphanet_vocabulary:x-hgnc |
hgnc resource [hgnc_vocabulary:Resource] http://bio2rdf.org/hgnc_vocabulary:Resource |
243 | 243 |
| 243 | 243 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
x hgnc [orphanet_vocabulary:x-hgnc] http://bio2rdf.org/orphanet_vocabulary:x-hgnc |
hgnc resource [hgnc_vocabulary:Resource] http://bio2rdf.org/hgnc_vocabulary:Resource |
243 | 243 |
| 377 | 377 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
x mesh [orphanet_vocabulary:x-mesh] http://bio2rdf.org/orphanet_vocabulary:x-mesh |
mesh resource [mesh_vocabulary:Resource] http://bio2rdf.org/mesh_vocabulary:Resource |
377 | 377 |
| 103 | 103 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
x uniprot [orphanet_vocabulary:x-uniprot] http://bio2rdf.org/orphanet_vocabulary:x-uniprot |
uniprot resource [uniprot_vocabulary:Resource] http://bio2rdf.org/uniprot_vocabulary:Resource |
103 | 103 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
disorder [orphanet_vocabulary:disorder] http://bio2rdf.org/orphanet_vocabulary:disorder |
Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
76 | 116 |
| 594 | 594 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
x snomedct [orphanet_vocabulary:x-snomedct] http://bio2rdf.org/orphanet_vocabulary:x-snomedct |
snomedct resource [snomedct_vocabulary:Resource] http://bio2rdf.org/snomedct_vocabulary:Resource |
587 | 594 |
| 1 | 1 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
x obi [orphanet_vocabulary:x-obi] http://bio2rdf.org/orphanet_vocabulary:x-obi |
obi resource [obi_vocabulary:Resource] http://bio2rdf.org/obi_vocabulary:Resource |
1 | 1 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
gene [orphanet_vocabulary:gene] http://bio2rdf.org/orphanet_vocabulary:gene |
orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
17 | 25 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 435 |
| 3331 | 3331 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
http://www.w3.org/2002/07/owl#Class | 3 | 3331 |
| 3331 | 3331 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
http://www.w3.org/2002/07/owl#Class | 3 | 3331 |
| 3331 | 3331 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
http://www.w3.org/2002/07/owl#Class | 3 | 3331 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 25 |
| 2987 | 2987 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
http://www.w3.org/2002/07/owl#Class | 6 | 2987 |
| 2987 | 2987 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
http://www.w3.org/2002/07/owl#Class | 6 | 2987 |
| 2987 | 2987 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
http://www.w3.org/2002/07/owl#Class | 6 | 2987 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 1 | 88 |
| 3331 | 3331 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
http://www.w3.org/2002/07/owl#Class | 1265 | 3331 |
| 3331 | 3331 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
http://www.w3.org/2002/07/owl#Class | 1265 | 3331 |
| 3331 | 3331 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
http://www.w3.org/2002/07/owl#Class | 1265 | 3331 |
| 4240 | 4240 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
http://www.w3.org/2002/07/owl#Class | 9 | 4240 |
| 4240 | 4240 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
http://www.w3.org/2002/07/owl#Class | 9 | 4240 |
| 4240 | 4240 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
http://www.w3.org/2002/07/owl#Class | 9 | 4240 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 195 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
frequency [orphanet_vocabulary:frequency] http://bio2rdf.org/orphanet_vocabulary:frequency |
http://www.w3.org/2002/07/owl#Class | 3 | 3331 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 169 |
| 4240 | 4240 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
type of inheritance [orphanet_vocabulary:type-of-inheritance] http://bio2rdf.org/orphanet_vocabulary:type-of-inheritance |
http://www.w3.org/2002/07/owl#Class | 9 | 4240 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
sign [orphanet_vocabulary:sign] http://bio2rdf.org/orphanet_vocabulary:sign |
http://www.w3.org/2002/07/owl#Class | 1265 | 3331 |
| 5807 | 5807 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 5807 |
| 5807 | 5807 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 5807 |
| 5807 | 5807 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 5807 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 4750 |
| 2987 | 2987 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
prevalence [orphanet_vocabulary:prevalence] http://bio2rdf.org/orphanet_vocabulary:prevalence |
http://www.w3.org/2002/07/owl#Class | 6 | 2987 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 116 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
status [orphanet_vocabulary:status] http://bio2rdf.org/orphanet_vocabulary:status |
http://www.w3.org/2002/07/owl#Class | 2 | 29 |
| 2653 | 1389 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | http://www.w3.org/2002/07/owl#Class | 160 | 2653 |
| 2653 | 1389 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | http://www.w3.org/2002/07/owl#Class | 160 | 2653 |
| 2653 | 1389 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/2000/01/rdf-schema#subClassOf | http://www.w3.org/2002/07/owl#Class | 160 | 2653 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 435 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 88 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 195 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 4750 |
| 2051 | 2051 | ensembl resource [ensembl_vocabulary:Resource] http://bio2rdf.org/ensembl_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 2051 |
| 3071 | 3071 | omim resource [omim_vocabulary:Resource] http://bio2rdf.org/omim_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 3071 |
| 587 | 587 | snomedct resource [snomedct_vocabulary:Resource] http://bio2rdf.org/snomedct_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 587 |
| 20652 | 20652 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 20652 |
| 20652 | 20652 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 20652 |
| 20652 | 20652 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 20652 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 116 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 3331 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 169 |
| 144 | 144 | meddra resource [meddra_vocabulary:Resource] http://bio2rdf.org/meddra_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 144 |
| 195 | 195 | Role in the phenotype of [orphanet:17985] http://bio2rdf.org/orphanet:17985 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 195 |
| 116 | 116 | Disease-causing somatic mutation(s) in [orphanet:17955] http://bio2rdf.org/orphanet:17955 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 116 |
| 19232 | 19232 | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 11 | 19232 |
| 19232 | 19232 | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 11 | 19232 |
| 19232 | 19232 | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 11 | 19232 |
| 435 | 435 | Major susceptibility factor in [orphanet:17961] http://bio2rdf.org/orphanet:17961 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 435 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 25 |
| 4750 | 4750 | Disease-causing germline mutation(s) in [orphanet:17949] http://bio2rdf.org/orphanet:17949 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 4750 |
| 275 | 275 | umls resource [umls_vocabulary:Resource] http://bio2rdf.org/umls_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 275 |
| 3164 | 3164 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 3164 |
| 103 | 103 | uniprot resource [uniprot_vocabulary:Resource] http://bio2rdf.org/uniprot_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 103 |
| 213 | 213 | genatlas resource [genatlas_vocabulary:Resource] http://bio2rdf.org/genatlas_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 213 |
| 6930 | 6930 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 6930 |
| 300 | 300 | reactome resource [reactome_vocabulary:Resource] http://bio2rdf.org/reactome_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 300 |
| 243 | 243 | hgnc resource [hgnc_vocabulary:Resource] http://bio2rdf.org/hgnc_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 243 |
| 88 | 88 | Candidate gene tested in [orphanet:18273] http://bio2rdf.org/orphanet:18273 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 88 |
| 25 | 25 | Modifying somatic mutation in [orphanet:17973] http://bio2rdf.org/orphanet:17973 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 25 |
| 3164 | 3164 | orphanet gene [orphanet_vocabulary:Gene] http://bio2rdf.org/orphanet_vocabulary:Gene |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 3164 |
| 1 | 1 | obi resource [obi_vocabulary:Resource] http://bio2rdf.org/obi_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 1 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 29 |
| 664 | 664 | icd10 resource [icd10_vocabulary:Resource] http://bio2rdf.org/icd10_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 664 |
| 165 | 165 | iuphar resource [iuphar_vocabulary:Resource] http://bio2rdf.org/iuphar_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 165 |
| 6930 | 6930 | Disorder [orphanet_vocabulary:Disorder] http://bio2rdf.org/orphanet_vocabulary:Disorder |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 6930 |
| 3331 | 3331 | Clinical Sign and Frequency [orphanet_vocabulary:Clinical-Sign-And-Frequency] http://bio2rdf.org/orphanet_vocabulary:Clinical-Sign-And-Frequency |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 3331 |
| 377 | 377 | mesh resource [mesh_vocabulary:Resource] http://bio2rdf.org/mesh_vocabulary:Resource |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 377 |
| 169 | 169 | Part of a fusion gene in [orphanet:17979] http://bio2rdf.org/orphanet:17979 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 169 |
| 29 | 29 | Modifying germline mutation in [orphanet:17967] http://bio2rdf.org/orphanet:17967 |
http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2002/07/owl#Class | 1 | 29 |
| 1359 | 1359 | http://www.w3.org/2002/07/owl#Class | http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet_vocabulary resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | http://www.w3.org/2002/07/owl#Class | http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet_resource resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 1359 | 1359 | http://www.w3.org/2002/07/owl#Class | http://www.w3.org/2000/01/rdf-schema#subClassOf | orphanet resource [orphanet_vocabulary:Resource] http://bio2rdf.org/orphanet_vocabulary:Resource |
154 | 1359 |
| 22 | 22 | http://www.w3.org/2002/07/owl#ObjectProperty | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 22 |
| 2653 | 1389 | http://www.w3.org/2002/07/owl#Class | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://www.w3.org/2002/07/owl#Class | 160 | 2653 |
| 6 | 6 | http://www.w3.org/2002/07/owl#DatatypeProperty | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 6 |
| 1392 | 1392 | http://www.w3.org/2002/07/owl#Class | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://www.w3.org/2000/01/rdf-schema#Resource | 1 | 1392 |
| Dataset | Property | Dataset |
|---|---|---|
| orphanet | x hgnc [orphanet_vocabulary:x-hgnc] http://bio2rdf.org/orphanet_vocabulary:x-hgnc |
hgnc |
| orphanet | x uniprot [orphanet_vocabulary:x-uniprot] http://bio2rdf.org/orphanet_vocabulary:x-uniprot |
uniprot |
| orphanet | x obi [orphanet_vocabulary:x-obi] http://bio2rdf.org/orphanet_vocabulary:x-obi |
obi |
| orphanet | x icd10 [orphanet_vocabulary:x-icd10] http://bio2rdf.org/orphanet_vocabulary:x-icd10 |
icd10 |
| orphanet | x genatlas [orphanet_vocabulary:x-genatlas] http://bio2rdf.org/orphanet_vocabulary:x-genatlas |
genatlas |
| orphanet | x meddra [orphanet_vocabulary:x-meddra] http://bio2rdf.org/orphanet_vocabulary:x-meddra |
meddra |
| orphanet | x omim [orphanet_vocabulary:x-omim] http://bio2rdf.org/orphanet_vocabulary:x-omim |
omim |
| orphanet | x iuphar [orphanet_vocabulary:x-iuphar] http://bio2rdf.org/orphanet_vocabulary:x-iuphar |
iuphar |
| orphanet | x umls [orphanet_vocabulary:x-umls] http://bio2rdf.org/orphanet_vocabulary:x-umls |
umls |
| orphanet | x ensembl [orphanet_vocabulary:x-ensembl] http://bio2rdf.org/orphanet_vocabulary:x-ensembl |
ensembl |
| orphanet | x mesh [orphanet_vocabulary:x-mesh] http://bio2rdf.org/orphanet_vocabulary:x-mesh |
mesh |
| orphanet | x reactome [orphanet_vocabulary:x-reactome] http://bio2rdf.org/orphanet_vocabulary:x-reactome |
reactome |
| orphanet | x snomedct [orphanet_vocabulary:x-snomedct] http://bio2rdf.org/orphanet_vocabulary:x-snomedct |
snomedct |