Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

FRONTOTEMPORAL DEMENTIA

Synonyms

FTDP17

ID

http://purl.bioontology.org/ontology/OMIM/600274

altLabel

FTDP17

DDPAC

FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS

PALLIDOPONTONIGRAL DEGENERATION

DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX

FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM

WILHELMSEN-LYNCH DISEASE

MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA

FRONTOTEMPORAL LOBE DEMENTIA

MSTD

PPND

FTLD WITH TAU INCLUSIONS

FLDEM

FTD

DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM

WLD

PICK COMPLEX

cui

C1838313

C0520716

C0338451

Gene Locus

17q21.1

Gene Symbol

MTBT1

MSTD

DDPAC

MAPT

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000781

http://purl.bioontology.org/ontology/OMIM/MTHU006531

http://purl.bioontology.org/ontology/OMIM/MTHU003268

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU000539

http://purl.bioontology.org/ontology/OMIM/MTHU006526

http://purl.bioontology.org/ontology/OMIM/MTHU038375

http://purl.bioontology.org/ontology/OMIM/MTHU006529

http://purl.bioontology.org/ontology/OMIM/MTHU006539

http://purl.bioontology.org/ontology/OMIM/MTHU003631

http://purl.bioontology.org/ontology/OMIM/MTHU006538

http://purl.bioontology.org/ontology/OMIM/MTHU006533

http://purl.bioontology.org/ontology/OMIM/MTHU000764

http://purl.bioontology.org/ontology/OMIM/MTHU003271

http://purl.bioontology.org/ontology/OMIM/MTHU006537

http://purl.bioontology.org/ontology/OMIM/MTHU006536

http://purl.bioontology.org/ontology/OMIM/MTHU006535

http://purl.bioontology.org/ontology/OMIM/MTHU006532

http://purl.bioontology.org/ontology/OMIM/MTHU006528

http://purl.bioontology.org/ontology/OMIM/MTHU006527

http://purl.bioontology.org/ontology/OMIM/MTHU006534

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

168610

601630

notation

600274

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

FRONTOTEMPORAL DEMENTIA

Scope Statement

Caused by mutation in the microtubule-associated tau protein gene (MAPT, 157140.0001) [MOLECULAR BASIS]

Highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) [MISCELLANEOUS]

Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0023) [MOLECULAR BASIS]

Mean age at onset 45 years [MISCELLANEOUS]

Genetic heterogeneity (see, e.g., 600795, 105550) [MISCELLANEOUS]

Most cases do not have mutations in the MAPT gene, but map to chromosome 17q [MISCELLANEOUS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C563966 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/42369001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD9CM/331.1 ICD9CM CUI
http://purl.bioontology.org/ontology/SNMI/DA-21270 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C563003 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/42369001 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10068968 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D057180 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230270009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10068968 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/230270009 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181125 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10068968 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X0034 RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D057180 MSHFRE CUI
http://purl.obolibrary.org/obo/MONDO_0017276 OBA LOOM
http://purl.obolibrary.org/obo/HP_0002145 OBA LOOM
urn:agi-folder:frontotemporal_dementia BPT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Frontotemporal_Dementia CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0338451 OCHV LOOM
http://scai.fraunhofer.de/AlzheimerOntology#Frontotemporal_Dementia ADO LOOM
http://scai.fraunhofer.de/AlzheimerOntology#Frontotemporal_Dementia NIO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#30455 OCHV LOOM
http://www.semanticweb.org/ontologies/2012/0/Ontology1325521724189.owl#Frontotemporal_dementia CTO-NDD LOOM
http://purl.obolibrary.org/obo/ND_0000167 NDDO LOOM
http://purl.obolibrary.org/obo/ND_0000167 NIO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.845.800.300.299 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0017276 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0017276 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017276 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0017276 DOVES LOOM
http://identifiers.org/omim/600274 REXO LOOM
http://identifiers.org/omim/600274 GEXO LOOM
http://identifiers.org/omim/600274 RETO LOOM
http://ontriscal#FrontotemporalDementia ONTRISCAL LOOM
http://purl.bioontology.org/ontology/ICD9CM/331.1 ICD9CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84719 NCIT LOOM
http://purl.bioontology.org/ontology/MESH/D057180 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/230270009 SNOMEDCT LOOM
http://doe-generated-ontology.com/OntoAD#C0338451 ONTOAD LOOM
http://radlex.org/RID/RID5140 RADLEX LOOM
http://localhost/plosthes.2017-1#11833 PLOSTHES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038219 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C84719 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_282 ORDO LOOM
http://purl.obolibrary.org/obo/Frontotemporal_Dementia NND_ND LOOM
http://purl.obolibrary.org/obo/OMIM_600274 CCO LOOM
http://purl.bioontology.org/ontology/ICD10CM/G31.0 ICD10CM LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57#frontotemporal_dementia NEO LOOM
http://www.case.edu/PMDO#FrontotemporalDementia PMDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D057180 RH-MESH LOOM
http://scai.fraunhofer.de/AlzheimerOntology#frontotemporal_dementia ADO LOOM
http://scai.fraunhofer.de/AlzheimerOntology#frontotemporal_dementia NIO LOOM
http://www.semanticweb.org/rbmor/ontologies/2021/1/1/untitled-ontology-133#Frontotemporal_Dementia PARTUMDO LOOM
http://www.semanticweb.org/zhenyuzhang/ontologies/2020/DRPSNPTO/FrontotemporalDementia DRPSNPTO LOOM
http://www.limics.fr/ontologies/ontoparonmed#DemenceFrontoTemporale_Signe ONTOPARON LOOM
http://purl.obolibrary.org/obo/DOID_10216 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9255 INBANCIDO LOOM
http://purl.obolibrary.org/obo/DOID_9255 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9255 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9255 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9255 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9255 CIDO LOOM
http://purl.obolibrary.org/obo/DOID_9255 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9255 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.950.300.299 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068968 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/X0034 RCD LOOM
http://purl.obolibrary.org/obo/HP_0002145 HP LOOM
http://purl.obolibrary.org/obo/HP_0002145 OBA LOOM
http://purl.obolibrary.org/obo/HP_0002145 UPHENO LOOM
http://www.semanticweb.org/zhenyuzhang/ontologies/2021/DREAMDNPTO#FrontotemporalDementia DREAMDNPTO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3338 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.380.266.299 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#F03.087.400.380.299 RH-MESH LOOM
http://purl.jp/bio/4/id/200906064813524435 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0026899 OMIT LOOM