Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/603472
http://purl.bioontology.org/ontology/OMIM/603472
Preferred Name

NEURONAL INTRANUCLEAR INCLUSION DISEASE
Synonyms
NIID
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NIID
prefLabel
NEURONAL INTRANUCLEAR INCLUSION DISEASE
Gene Symbol
NIID
NOTCH2NLC
OPDM3
ETM6
Scope Statement
Adult-onset [MISCELLANEOUS]
Patients may present with limb muscle weakness and gait abnormalities or cognitive impairment [MISCELLANEOUS]
Variable manifestations [MISCELLANEOUS]
Caused by trinucleotide repeat expansion (GGC)n in the NOTCH2 N-terminal-like C gene (NOTCH2NLC, 618025.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU065624
http://purl.bioontology.org/ontology/OMIM/MTHU000781
http://purl.bioontology.org/ontology/OMIM/MTHU065618
http://purl.bioontology.org/ontology/OMIM/MTHU065617
http://purl.bioontology.org/ontology/OMIM/MTHU004325
http://purl.bioontology.org/ontology/OMIM/MTHU000535
http://purl.bioontology.org/ontology/OMIM/MTHU002764
http://purl.bioontology.org/ontology/OMIM/MTHU002834
http://purl.bioontology.org/ontology/OMIM/MTHU000328
http://purl.bioontology.org/ontology/OMIM/MTHU065619
http://purl.bioontology.org/ontology/OMIM/MTHU000765
http://purl.bioontology.org/ontology/OMIM/MTHU066212
http://purl.bioontology.org/ontology/OMIM/MTHU001907
http://purl.bioontology.org/ontology/OMIM/MTHU058196
http://purl.bioontology.org/ontology/OMIM/MTHU007383
http://purl.bioontology.org/ontology/OMIM/MTHU008082
http://purl.bioontology.org/ontology/OMIM/MTHU065625
http://purl.bioontology.org/ontology/OMIM/MTHU065621
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU065616
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU036392
http://purl.bioontology.org/ontology/OMIM/MTHU013772
http://purl.bioontology.org/ontology/OMIM/MTHU000902
http://purl.bioontology.org/ontology/OMIM/MTHU037951
http://purl.bioontology.org/ontology/OMIM/MTHU065614
http://purl.bioontology.org/ontology/OMIM/MTHU000301
http://purl.bioontology.org/ontology/OMIM/MTHU065615
http://purl.bioontology.org/ontology/OMIM/MTHU065620
http://purl.bioontology.org/ontology/OMIM/MTHU000764
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU051567
http://purl.bioontology.org/ontology/OMIM/MTHU030647
http://purl.bioontology.org/ontology/OMIM/MTHU001203
http://purl.bioontology.org/ontology/OMIM/MTHU036435
http://purl.bioontology.org/ontology/OMIM/MTHU003516
http://purl.bioontology.org/ontology/OMIM/MTHU065622
http://purl.bioontology.org/ontology/OMIM/MTHU020668
http://purl.bioontology.org/ontology/OMIM/MTHU040091
http://purl.bioontology.org/ontology/OMIM/MTHU065623
See more
See less
tui
T047
Gene Locus
1q21.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
603472
Semantic type UMLS property
Has inheritance type
cui
C1863843
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display