Experimental Factor Ontology

Last uploaded: October 15, 2024

Preferred Name	obsolete_Smith-Magenis syndrome
Synonyms	17p11.2 microdeletion
Definitions	Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
ID	http://www.orpha.net/ORDO/Orphanet_819
Obsolete	true
database_cross_reference	OMIM:182290 MedDRA:10081680 ICD10:Q93.5 UMLS:C0795864 MeSH:D058496
definition	Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
definition_citation	orphanet
deprecated	true
has_exact_synonym	17p11.2 microdeletion
label	obsolete_Smith-Magenis syndrome
obsoleted_in_version	3.41.0
preferred label	obsolete_Smith-Magenis syndrome
prefLabel	obsolete_Smith-Magenis syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0008434
subClassOf	http://www.w3.org/2002/07/owl#Thing

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_819	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_819	ORDO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_819	CCONT	LOOM