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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   narcolepsy without cataplexy
  

Disease ID 1474
Disease narcolepsy without cataplexy
Synonym
narcolepsy w/o cataplexy
narcolepsy without cataplexy (disorder)
narcolepsy, without cataplexy
Orphanet
DOID
ICD10
UMLS
C1456240
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0027404  |  narcolepsy  |  7
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:4)
HCRT  |  17q21.2
ZNF365  |  10q21.2
HLA-DRB1  |  6p21.32
HLA-DQB1  |  6p21.32
Disease ID 1474
Disease narcolepsy without cataplexy
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:5)
HP:0000738  |  Hallucinations
HP:0000708  |  Behavioral abnormality
HP:0001262  |  Excessive daytime somnolence
HP:0100785  |  Insomnia
HP:0002360  |  Sleep disturbance
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
HP:0030050  |  Narcolepsy  |  8
Disease ID 1474
Disease narcolepsy without cataplexy
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:5)
HP ID HP Name MP ID MP Name Annotation
HP:0000738HallucinationsMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000708Behavioral abnormalityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002360Sleep disturbanceMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0100785InsomniaMP:0020187altered susceptibility to prion infectionaltered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0001262SomnolenceMP:0013504increased embryonic tissue cell apoptosisincrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
Disease ID 1474
Disease narcolepsy without cataplexy
Case(Waiting for update.)