Human Disease Ontology

Last uploaded: May 1, 2024
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Preferred Name

Larsen syndrome
Synonyms

dominant larsen syndrome
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_14764
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

MESH:C580241

OMIM:150250

GARD:6860
definition

A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.
has exact synonym

dominant larsen syndrome
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:14764
in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

Larsen syndrome
notation

DOID:14764
prefLabel

Larsen syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14764 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_14764 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14764 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14764 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14764 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007875 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007875 EFO 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/OMIM/150250 OMIM 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://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
http://www.gamuts.net/entity#Larsen_syndrome GAMUTS REST