loading...| Preferred Name | NARCOLEPSY 1 | |
| Synonyms |
CATAPLEXY NARCOLEPTIC SYNDROME 1 NRCLP1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/161400 |
|
| altLabel |
CATAPLEXY NARCOLEPTIC SYNDROME 1 NRCLP1 |
|
| cui |
C1834372 C0007384 |
|
| Gene Locus |
17q21 |
|
| Gene Symbol |
OX NRCLP1 HCRT |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001405 http://purl.bioontology.org/ontology/OMIM/MTHU026500 http://purl.bioontology.org/ontology/OMIM/MTHU016826 http://purl.bioontology.org/ontology/OMIM/MTHU016823 http://purl.bioontology.org/ontology/OMIM/MTHU001404 http://purl.bioontology.org/ontology/OMIM/MTHU001401 http://purl.bioontology.org/ontology/OMIM/MTHU027273 http://purl.bioontology.org/ontology/OMIM/MTHU001403 http://purl.bioontology.org/ontology/OMIM/MTHU001400 http://purl.bioontology.org/ontology/OMIM/MTHU001402 http://purl.bioontology.org/ontology/OMIM/MTHU016824 http://purl.bioontology.org/ontology/OMIM/MTHU026501 http://purl.bioontology.org/ontology/OMIM/MTHU016827 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
161400 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
NARCOLEPSY 1 |
|
| Scope Statement |
Prevalence of approximately 1 in 2000 individuals [MISCELLANEOUS] Caused by mutation in the hypocretin gene (HCRT, 602358.0001) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] Onset usually in second decade of life, although earlier and later onset have been reported [MISCELLANEOUS] Mutation in the HCRT gene has been identified in 1 patient [MISCELLANEOUS] |
|
| tui |
T047 |