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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/172700
http://purl.bioontology.org/ontology/OMIM/172700
|
|---|---|
| Preferred Name | PICK DISEASE OF BRAIN |
| Synonyms |
DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS
LOBAR ATROPHY OF BRAIN
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS
LOBAR ATROPHY OF BRAIN
|
|---|---|
| prefLabel | PICK DISEASE OF BRAIN
|
| Gene Symbol |
MTBT1
MSTD
DDPAC
MAPT
FTD1
|
| Scope Statement | Phenotypic overlap with frontotemporal dementia (600274) [MISCELLANEOUS]
Caused by mutation in the microtubule-associated tau protein gene (MAPT, 157140.0011) [MOLECULAR BASIS]
Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0027) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q21.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 172700
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0236642
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |