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Treacher-Collins syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0002457

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. [ Orphanet:861 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: Treacher Collins syndrome mandibulofacial dysostosis without limb anomalies Franceschetti-Klein syndrome Franceschetti syndrome Treacher-Collins syndrome Treacher Collins Syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:9124 (MONDO:GARD)
  • OMIMPS:154500 (https://orcid.org/0000-0002-6601-2165)
  • UMLS:C0242387 (MONDO:equivalentTo)
  • NORD:1785 (MONDO:NORD)
  • MEDGEN:66078 (MONDO:equivalentTo)
  • NCIT:C75018 (MONDO:equivalentTo)
  • SCTID:62767009 (MONDO:equivalentTo)
  • DOID:2908 (MONDO:equivalentTo)
  • Orphanet:861 (OMIM:154500)
  • MedDRA:10051456 (Orphanet:861/e)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, prototype_pattern, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10051456

exactMatch

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

http://purl.obolibrary.org/obo/DOID_2908

http://linkedlifedata.com/resource/umls/id/C0242387

http://purl.obolibrary.org/obo/NCIT_C75018

https://omim.org/phenotypicSeries/PS154500

http://identifiers.org/medgen/66078

http://identifiers.org/snomedct/62767009

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368

http://purl.obolibrary.org/obo/MONDO_0015334

http://purl.obolibrary.org/obo/MONDO_0020190

http://purl.obolibrary.org/obo/MONDO_0020157

http://purl.obolibrary.org/obo/MONDO_0020167

has related synonym

TCOF

MFD1

TCS

id

MONDO:0002457