loading...| Preferred Name | Insomnia, Fatal Familial | |
| Synonyms |
Familial Fatal Insomnia Familial Fatal, Insomnia Fatal Familial Insomnias Fatal Insomnias, Familial Fatals, Insomnia Familial Fatal Familial Insomnia Familial Fatal Insomnias Familial Fatals, Insomnia Fatal Insomnia, Familial Insomnias, Familial Fatal Insomnia, Familial Fatal Fatal, Insomnia Familial Insomnia Familial Fatals Insomnia Familial Fatal Insomnias, Fatal Familial |
|
| Definitions |
An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive insomnia. It is caused by a mutation in the prion protein (PRIONS). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D034062 |
|
| altLabel |
Familial Fatal Insomnia Familial Fatal, Insomnia Fatal Familial Insomnias Fatal Insomnias, Familial Fatals, Insomnia Familial Fatal Familial Insomnia Familial Fatal Insomnias Familial Fatals, Insomnia Fatal Insomnia, Familial Insomnias, Familial Fatal Insomnia, Familial Fatal Fatal, Insomnia Familial Insomnia Familial Fatals Insomnia Familial Fatal Insomnias, Fatal Familial |
|
| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH TM UR VE VI |
|
| cui |
C0206042 |
|
| DC |
1 |
|
| definition |
An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive insomnia. It is caused by a mutation in the prion protein (PRIONS). |
|
| DX |
20030101 |
|
| HN |
2003; use PRION DISEASES 1993-2002 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000635 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2003; see PRION DISEASES 1993-2002 |
|
| MDA |
20020703 |
|
| MMR |
20190617 |
|
| MN |
C10.574.843.512 C10.228.228.800.392 C01.207.800.392 C10.886.425.800.800.400 |
|
| notation |
D034062 |
|
| prefLabel |
Insomnia, Fatal Familial |
|
| TERMUI |
T769505 T769506 T469715 T051046 |
|
| TH |
OMIM (2013) NLM (1993) NLM (2003) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |