About: Treacher Collins Syndrome

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Treacher Collins Syndrome
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Treacher Collins Syndrome
UMLS_CUI	C0242387
Contributing_Source	NICHD
Legacy_Concept_Name	Treacher_Collins_Syndrome
FULL_SYN	Treacher Collins SyndromePTNCI Mandibulofacial DysostosisSYNCI Treacher Collins SyndromePTNICHD
DEFINITION	A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.NCI
code	C75018
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0012984
is someValuesFrom of	nodeID://b720957
is sameAs of	Mandibulofacial Dysostosis

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