Experimental Factor Ontology

Last uploaded: September 16, 2024

Preferred Name	obsolete_COFS syndrome
Synonyms	Pena-Shokeir syndrome type 2 Cerebrooculofacioskeletal syndrome
Definitions	Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
ID	http://www.orpha.net/ORDO/Orphanet_1466
Obsolete	true
database_cross_reference	UMLS:C1859312 ICD10:Q87.1 OMIM:610758 OMIM:610756 UMLS:C0220722 UMLS:C2931277 OMIM:214150 OMIM:616570 OMIM:278780
definition	Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
definition_citation	orphanet
deprecated	true
has_exact_synonym	Pena-Shokeir syndrome type 2 Cerebrooculofacioskeletal syndrome
label	obsolete_COFS syndrome
obsoleted_in_version	3.41.0
preferred label	obsolete_COFS syndrome
prefLabel	obsolete_COFS syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0008926
subClassOf	http://www.w3.org/2002/07/owl#Thing

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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_1466	ORDO	SAME_URI