Gene Expression Ontology

Last uploaded: December 16, 2015
Preferred Name

Larsen syndrome
Synonyms

LRS

Definitions

(LRS) - An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication.

ID

http://identifiers.org/omim/150250

altLabel

LRS

definition

(LRS) - An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication.

id

OMIM:150250

notation

OMIM:150250

prefLabel

Larsen syndrome

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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Delete Mapping To Ontology Source
http://identifiers.org/omim/150250 REXO SAME_URI
http://identifiers.org/omim/150250 RETO SAME_URI
http://purl.obolibrary.org/obo/DOID_14764 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007875 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14764 DOID 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 DDSS 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
rgo:09528 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175778 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/150250 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/C580241 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073856 MEDDRA LOOM
http://identifiers.org/omim/150250 REXO 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007875 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007875 DOVES LOOM
http://purl.jp/bio/4/id/200906097751414404 IOBC LOOM
http://nanbyodata.jp/ontology/NANDO_2201019 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_503 ORDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00815 SNMI LOOM