Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/104311
http://purl.bioontology.org/ontology/OMIM/104311
Preferred Name

PRESENILIN 1
Synonyms
PICK DISEASE OF BRAIN
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA
S182
ALZHEIMER DISEASE, FAMILIAL, 3
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
CARDIOMYOPATHY, DILATED, 1U
PS1
DEMENTIA, FRONTOTEMPORAL
ACNE INVERSA, FAMILIAL, 3
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
PSEN1
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
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Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PICK DISEASE OF BRAIN
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA
S182
ALZHEIMER DISEASE, FAMILIAL, 3
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
CARDIOMYOPATHY, DILATED, 1U
PS1
DEMENTIA, FRONTOTEMPORAL
ACNE INVERSA, FAMILIAL, 3
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
PSEN1
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
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prefLabel
PRESENILIN 1
Gene Symbol
ACNINV3
PSEN1
AD3
notation
104311
Has allelic variant
http://purl.bioontology.org/ontology/OMIM/104311.0033
http://purl.bioontology.org/ontology/OMIM/104311.0036
http://purl.bioontology.org/ontology/OMIM/104311.0035
http://purl.bioontology.org/ontology/OMIM/104311.0030
http://purl.bioontology.org/ontology/OMIM/104311.0037
http://purl.bioontology.org/ontology/OMIM/104311.0038
http://purl.bioontology.org/ontology/OMIM/104311.0034
http://purl.bioontology.org/ontology/OMIM/104311.0031
http://purl.bioontology.org/ontology/OMIM/104311.0032
http://purl.bioontology.org/ontology/OMIM/104311.0039
http://purl.bioontology.org/ontology/OMIM/104311.0019
http://purl.bioontology.org/ontology/OMIM/104311.0012
http://purl.bioontology.org/ontology/OMIM/104311.0010
http://purl.bioontology.org/ontology/OMIM/104311.0018
http://purl.bioontology.org/ontology/OMIM/104311.0013
http://purl.bioontology.org/ontology/OMIM/104311.0014
http://purl.bioontology.org/ontology/OMIM/104311.0017
http://purl.bioontology.org/ontology/OMIM/104311.0015
http://purl.bioontology.org/ontology/OMIM/104311.0011
http://purl.bioontology.org/ontology/OMIM/104311.0016
http://purl.bioontology.org/ontology/OMIM/104311.0007
http://purl.bioontology.org/ontology/OMIM/104311.0001
http://purl.bioontology.org/ontology/OMIM/104311.0008
http://purl.bioontology.org/ontology/OMIM/104311.0004
http://purl.bioontology.org/ontology/OMIM/104311.0003
http://purl.bioontology.org/ontology/OMIM/104311.0005
http://purl.bioontology.org/ontology/OMIM/104311.0002
http://purl.bioontology.org/ontology/OMIM/104311.0006
http://purl.bioontology.org/ontology/OMIM/104311.0009
http://purl.bioontology.org/ontology/OMIM/104311.0021
http://purl.bioontology.org/ontology/OMIM/104311.0023
http://purl.bioontology.org/ontology/OMIM/104311.0020
http://purl.bioontology.org/ontology/OMIM/104311.0026
http://purl.bioontology.org/ontology/OMIM/104311.0024
http://purl.bioontology.org/ontology/OMIM/104311.0027
http://purl.bioontology.org/ontology/OMIM/104311.0025
http://purl.bioontology.org/ontology/OMIM/104311.0022
http://purl.bioontology.org/ontology/OMIM/104311.0029
http://purl.bioontology.org/ontology/OMIM/104311.0028
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OMIM MimType Value
star
Semantic type UMLS property
OMIM Entry Type
1
type
MIMTYPEMEANING
Gene with known sequence
Gene Locus
14q24.3
Phenotype of
http://purl.bioontology.org/ontology/OMIM/104311.0033
http://purl.bioontology.org/ontology/OMIM/104311.0036
http://purl.bioontology.org/ontology/OMIM/104311.0035
http://purl.bioontology.org/ontology/OMIM/104311.0030
http://purl.bioontology.org/ontology/OMIM/104311.0037
http://purl.bioontology.org/ontology/OMIM/104311.0038
http://purl.bioontology.org/ontology/OMIM/104311.0034
http://purl.bioontology.org/ontology/OMIM/104311.0031
http://purl.bioontology.org/ontology/OMIM/104311.0032
http://purl.bioontology.org/ontology/OMIM/104311.0039
http://purl.bioontology.org/ontology/OMIM/104311.0019
http://purl.bioontology.org/ontology/OMIM/104311.0012
http://purl.bioontology.org/ontology/OMIM/104311.0010
http://purl.bioontology.org/ontology/OMIM/104311.0018
http://purl.bioontology.org/ontology/OMIM/104311.0013
http://purl.bioontology.org/ontology/OMIM/104311.0014
http://purl.bioontology.org/ontology/OMIM/104311.0017
http://purl.bioontology.org/ontology/OMIM/104311.0015
http://purl.bioontology.org/ontology/OMIM/104311.0011
http://purl.bioontology.org/ontology/OMIM/104311.0016
http://purl.bioontology.org/ontology/OMIM/104311.0007
http://purl.bioontology.org/ontology/OMIM/104311.0001
http://purl.bioontology.org/ontology/OMIM/104311.0008
http://purl.bioontology.org/ontology/OMIM/104311.0004
http://purl.bioontology.org/ontology/OMIM/104311.0003
http://purl.bioontology.org/ontology/OMIM/104311.0005
http://purl.bioontology.org/ontology/OMIM/104311.0002
http://purl.bioontology.org/ontology/OMIM/104311.0006
http://purl.bioontology.org/ontology/OMIM/104311.0009
http://purl.bioontology.org/ontology/OMIM/104311.0021
http://purl.bioontology.org/ontology/OMIM/104311.0023
http://purl.bioontology.org/ontology/OMIM/104311.0020
http://purl.bioontology.org/ontology/OMIM/104311.0026
http://purl.bioontology.org/ontology/OMIM/104311.0024
http://purl.bioontology.org/ontology/OMIM/104311.0027
http://purl.bioontology.org/ontology/OMIM/104311.0025
http://purl.bioontology.org/ontology/OMIM/104311.0022
http://purl.bioontology.org/ontology/OMIM/104311.0029
http://purl.bioontology.org/ontology/OMIM/104311.0028
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tui
T047
T033
T028
cui
C1843015
C4015782
C1843013
C1843014
C3151038
C3160720
C1418985
C0338451
C0236642
C4015780
C4015781
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