loading...| Preferred Name | HUNTINGTON DISEASE-LIKE 1 | |
| Synonyms |
HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1 HLN1 PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES HDL1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/603218 |
|
| altLabel |
HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1 HLN1 PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES HDL1 |
|
| cui |
C1864112 |
|
| Gene Locus |
20pter-p12 |
|
| Gene Symbol |
PRIP KURU CJD PRNP |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003622 http://purl.bioontology.org/ontology/OMIM/MTHU000535 http://purl.bioontology.org/ontology/OMIM/MTHU005126 http://purl.bioontology.org/ontology/OMIM/MTHU000539 http://purl.bioontology.org/ontology/OMIM/MTHU004433 http://purl.bioontology.org/ontology/OMIM/MTHU004473 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU002478 http://purl.bioontology.org/ontology/OMIM/MTHU005125 http://purl.bioontology.org/ontology/OMIM/MTHU000282 http://purl.bioontology.org/ontology/OMIM/MTHU004025 http://purl.bioontology.org/ontology/OMIM/MTHU005127 http://purl.bioontology.org/ontology/OMIM/MTHU000301 http://purl.bioontology.org/ontology/OMIM/MTHU001324 http://purl.bioontology.org/ontology/OMIM/MTHU004024 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000402 http://purl.bioontology.org/ontology/OMIM/MTHU005124 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
604920 |
|
| notation |
603218 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HUNTINGTON DISEASE-LIKE 1 |
|
| Scope Statement |
Prominent psychiatric symptoms [MISCELLANEOUS] Caused by insertion of 8 extra octapeptide repeats in the prion protein gene (PRNP, 176640.0001) [MOLECULAR BASIS] Mean age at onset 28 years [MISCELLANEOUS] |
|
| tui |
T047 |