Experimental Factor Ontology

Last uploaded: July 4, 2024
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Preferred Name

obsolete_Treacher-Collins syndrome
Synonyms

Franceschetti-Klein syndrome

Mandibulofacial dysostosis without limb anomalies
Definitions

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
ID

http://www.orpha.net/ORDO/Orphanet_861
Obsolete

true
database_cross_reference

OMIM:154500

MedDRA:10051456

OMIM:248390

OMIM:613717

UMLS:C0242387

ICD10:Q75.4

UMLS:C0265241

OMIM:190351

OMIM:190350
definition

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
definition_citation

orphanet
deprecated

true
has_exact_synonym

Franceschetti-Klein syndrome

Mandibulofacial dysostosis without limb anomalies
label

obsolete_Treacher-Collins syndrome
obsoleted_in_version

3.41.0
preferred label

obsolete_Treacher-Collins syndrome
prefLabel

obsolete_Treacher-Collins syndrome
reason_for_obsolescence

Replaced with Mondo term.
term replaced by

http://purl.obolibrary.org/obo/MONDO_0002457
subClassOf

http://www.w3.org/2002/07/owl#Thing
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