loading...| Preferred Name |
CREUTZFELDT-JAKOB DISEASE |
|
| Synonyms |
CREUTZFELDT-JAKOB DISEASE, VARIANT |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/123400 |
|
| altLabel |
CREUTZFELDT-JAKOB DISEASE, VARIANT CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT sCJD vCJD CREUTZFELDT-JAKOB DISEASE, SPORADIC CJD CREUTZFELDT-JAKOB DISEASE, FAMILIAL |
|
| cui |
C0376329 C1969957 C0022336 C0751254 C1852467 |
|
| Gene Locus |
6p21.3 |
|
| Gene Symbol |
CELIAC1 HLA-DQB1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018794 http://purl.bioontology.org/ontology/OMIM/MTHU000781 http://purl.bioontology.org/ontology/OMIM/MTHU018797 http://purl.bioontology.org/ontology/OMIM/MTHU046414 http://purl.bioontology.org/ontology/OMIM/MTHU036650 http://purl.bioontology.org/ontology/OMIM/MTHU000780 http://purl.bioontology.org/ontology/OMIM/MTHU018788 http://purl.bioontology.org/ontology/OMIM/MTHU036363 http://purl.bioontology.org/ontology/OMIM/MTHU000535 http://purl.bioontology.org/ontology/OMIM/MTHU000539 http://purl.bioontology.org/ontology/OMIM/MTHU018789 http://purl.bioontology.org/ontology/OMIM/MTHU067099 http://purl.bioontology.org/ontology/OMIM/MTHU005420 http://purl.bioontology.org/ontology/OMIM/MTHU036651 http://purl.bioontology.org/ontology/OMIM/MTHU004025 http://purl.bioontology.org/ontology/OMIM/MTHU002561 http://purl.bioontology.org/ontology/OMIM/MTHU000543 http://purl.bioontology.org/ontology/OMIM/MTHU036401 http://purl.bioontology.org/ontology/OMIM/MTHU004024 http://purl.bioontology.org/ontology/OMIM/MTHU018792 http://purl.bioontology.org/ontology/OMIM/MTHU018790 http://purl.bioontology.org/ontology/OMIM/MTHU018796 http://purl.bioontology.org/ontology/OMIM/MTHU036372 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
123400 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CREUTZFELDT-JAKOB DISEASE |
|
| Scope Statement |
Patients with variant CJD are homozygous for met129 polymorphism (176640.0005) [MISCELLANEOUS] Caused by mutations in the prion protein gene (PRNP, 176640.0001) [MOLECULAR BASIS] Most cases are sporadic [MISCELLANEOUS] Mean age at onset for variant CJD is 29 years (before age 45 years) [MISCELLANEOUS] Mean survival 5 months [MISCELLANEOUS] 15% cases are familial [MISCELLANEOUS] Rapid progression [MISCELLANEOUS] Three forms of CJD: acquired (including variant), sporadic, and inherited [MISCELLANEOUS] Mean age at onset for sporadic CJD is 60 years (range, 50 to 70 years) [MISCELLANEOUS] Incidence of all forms of CJD is 0.5 to 1.5 per million per year [MISCELLANEOUS] |
|
| tui |
T047 |