Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

LARSEN SYNDROME
Synonyms

LRS
ID

http://purl.bioontology.org/ontology/OMIM/150250
altLabel

LRS
cui

C0175778
Gene Locus

3p14.3
Gene Symbol

AOI

SCT

LRS1

FLNB
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU024128

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU001504

http://purl.bioontology.org/ontology/OMIM/MTHU005234

http://purl.bioontology.org/ontology/OMIM/MTHU017501

http://purl.bioontology.org/ontology/OMIM/MTHU017491

http://purl.bioontology.org/ontology/OMIM/MTHU007031

http://purl.bioontology.org/ontology/OMIM/MTHU009647

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU036568

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU036370

http://purl.bioontology.org/ontology/OMIM/MTHU017498

http://purl.bioontology.org/ontology/OMIM/MTHU024130

http://purl.bioontology.org/ontology/OMIM/MTHU012591

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU017502

http://purl.bioontology.org/ontology/OMIM/MTHU011911

http://purl.bioontology.org/ontology/OMIM/MTHU017497

http://purl.bioontology.org/ontology/OMIM/MTHU005440

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU010718

http://purl.bioontology.org/ontology/OMIM/MTHU002570

http://purl.bioontology.org/ontology/OMIM/MTHU017494

http://purl.bioontology.org/ontology/OMIM/MTHU017492

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU017500

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU024129

http://purl.bioontology.org/ontology/OMIM/MTHU026563

http://purl.bioontology.org/ontology/OMIM/MTHU013691

http://purl.bioontology.org/ontology/OMIM/MTHU036588

http://purl.bioontology.org/ontology/OMIM/MTHU036897

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU009268

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU005346

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU008018

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU013999

http://purl.bioontology.org/ontology/OMIM/MTHU007985

http://purl.bioontology.org/ontology/OMIM/MTHU017499

http://purl.bioontology.org/ontology/OMIM/MTHU017496

http://purl.bioontology.org/ontology/OMIM/MTHU017493

http://purl.bioontology.org/ontology/OMIM/MTHU014703
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

150250
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LARSEN SYNDROME
Scope Statement

Autosomal recessive inheritance (245600) has also been suggested [MISCELLANEOUS]

Joint dislocations become less frequent with age [MISCELLANEOUS]

Caused by mutation in the filamin B gene (FLNB, 603381.0004) [MOLECULAR BASIS]

Intrafamilial variation [MISCELLANEOUS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10073856 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/PFy1. RCD CUI
http://purl.bioontology.org/ontology/MESH/C580241 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10073856 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10073856 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/0729-7550 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/63387002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00815 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/63387002 SCTSPA CUI
http://purl.obolibrary.org/obo/MONDO_0007875 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007875 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14764 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2201019 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_14764 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14764 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14764 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14764 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/PFy1. RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175778 OCHV LOOM
http://purl.bioontology.org/ontology/MESH/C580241 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073856 MEDDRA LOOM
http://www.gamuts.net/entity#Larsen_syndrome GAMUTS LOOM
http://identifiers.org/omim/150250 REXO LOOM
http://identifiers.org/omim/150250 GEXO LOOM
http://identifiers.org/omim/150250 RETO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/63387002 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_150250 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C580241 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007875 DOVES LOOM
http://purl.jp/bio/4/id/200906097751414404 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_503 ORDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00815 SNMI LOOM