Experimental Factor Ontology

Last uploaded: September 16, 2024

Preferred Name	obsolete_DOORS syndrome
Synonyms	digitorenocerebral syndrome DOOR syndrome Autosomal recessive deafness-onychodystrophy syndrome Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome Deafness-onychoosteodystrophy-intellectual disability syndrome
Definitions	DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.
ID	http://www.orpha.net/ORDO/Orphanet_79500
Obsolete	true
database_cross_reference	ICD10:Q87.8 OMIM:220500
definition	DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.
definition_citation	orphanet
deprecated	true
has_exact_synonym	digitorenocerebral syndrome DOOR syndrome Autosomal recessive deafness-onychodystrophy syndrome Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome Deafness-onychoosteodystrophy-intellectual disability syndrome
label	obsolete_DOORS syndrome
obsoleted_in_version	3.41.0
preferred label	obsolete_DOORS syndrome
prefLabel	obsolete_DOORS syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0009079
subClassOf	http://www.w3.org/2002/07/owl#Thing

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_79500	ORDO	SAME_URI