Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Smith-Magenis Syndrome
Synonyms
Definitions

A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums.
ID

http://purl.obolibrary.org/obo/NCIT_C75469
code

C75469
Contributing_Source

Cellosaurus
definition

A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums.
in_subset

http://purl.obolibrary.org/obo/NCIT_C165258
label

Smith-Magenis Syndrome
Legacy Concept Name

Smith_Magenis_Syndrome
Preferred_Name

Smith-Magenis Syndrome
prefixIRI

NCIT:C75469
prefLabel

Smith-Magenis Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0795864
subClassOf

http://purl.obolibrary.org/obo/NCIT_C53543

http://purl.obolibrary.org/obo/NCIT_C28193
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http://purl.obolibrary.org/obo/DOID_0060768 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060768 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060768 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0060768 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060768 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0027241 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_819 ORDO LOOM
http://purl.obolibrary.org/obo/GSSO_006996 GSSO LOOM
http://identifiers.org/omim/182290 REXO LOOM
http://identifiers.org/omim/182290 GEXO LOOM
http://identifiers.org/omim/182290 RETO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081680 MEDDRA LOOM
http://purl.bioontology.org/ontology/CSP/5002-0024 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.879 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D058496 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PJ33300 RCTV2 LOOM
http://purl.bioontology.org/ontology/MESH/D058496 MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_387 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200687 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/182290 OMIM LOOM
http://purl.jp/bio/4/id/201106036969312971 IOBC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/401315004 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_182290 CCO LOOM
http://nanbyodata.jp/ontology/NANDO_2200954 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.887 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75469 NCIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040057 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 DOVES LOOM
rgo:26266 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.281.900 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.887 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0795864 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Smith_Magenis_Syndrome CSEO LOOM