loading...| Preferred Name |
HUNTINGTON DISEASE |
| Synonyms |
HUNTINGTON CHOREA |
| ID |
http://purl.bioontology.org/ontology/OMIM/143100 |
| altLabel |
HUNTINGTON CHOREA HD |
| cui |
C0020179 |
| Gene Locus |
4p16.3 |
| Gene Symbol |
HTT IT15 HD LOMARS |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003622 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU017827 http://purl.bioontology.org/ontology/OMIM/MTHU031013 http://purl.bioontology.org/ontology/OMIM/MTHU031015 http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU017828 http://purl.bioontology.org/ontology/OMIM/MTHU031012 http://purl.bioontology.org/ontology/OMIM/MTHU017826 http://purl.bioontology.org/ontology/OMIM/MTHU031016 http://purl.bioontology.org/ontology/OMIM/MTHU031014 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
143100 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HUNTINGTON DISEASE |
| Scope Statement |
Complete penetrance [MISCELLANEOUS] Prevalence much higher in whites than blacks [MISCELLANEOUS] Caused by a trinucleotide repeat expansion (CAG)n in the huntingtin gene (HTT, 613004.0001) [MOLECULAR BASIS] Normal range of expanded repeats 9-29, HD range 36-121 [MISCELLANEOUS] Onset first to seventh decade with 30 to 40 year mode [MISCELLANEOUS] Juvenile rigid early-onset form more often paternally inherited [MISCELLANEOUS] |
| tui |
T047 |