BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Treacher Collins syndrome

Synonyms

mandibulofacial dysostosis

Mandibulofacial dysostosis

Franceschetti syndrome

Definitions

A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. OMIM mapping confirmed by DO. [SN].

ID

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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2020_03_01:205416009

OMIM:PS154500

MESH:D008342

ICD10CM:Q75.4

UMLS_CUI:C0242387

GARD:9124

NCI:C75018

has exact match

MESH:D008342

has exact synonym

mandibulofacial dysostosis

Mandibulofacial dysostosis

Franceschetti syndrome

has_obo_namespace

disease_ontology

id

DOID:2908

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

Treacher Collins syndrome

notation

DOID:2908

prefLabel

Treacher Collins syndrome

textual definition

A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2908 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_2908 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2908 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2908 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2908 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2908 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_2908 DDSS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_293 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_861 ORDO LOOM
rgo:07963 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0002457 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2908 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0002457 MONDO LOOM
http://www.co-ode.org/ontologies/galen#TreacherCollinsSyndrome GALEN LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Treacher_Collins_Syndrome PEDTERM LOOM
http://purl.obolibrary.org/obo/MONDO_0002457 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0242387 OCHV LOOM
http://purl.obolibrary.org/obo/HIO_0000021 HIO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0242387 MEDLINEPLUS LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17933 DERMLEX LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Treacher_Collins_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/DOID_2908 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2908 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2908 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2908 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/82203000 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00722 SNMI LOOM
http://purl.obolibrary.org/obo/NCIT_C75018 BERO LOOM
http://purl.bioontology.org/ontology/HL7/C0242387 HL7 LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy5C00 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10044554 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75018 NCIT LOOM
http://purl.bioontology.org/ontology/RCD/XE2ud RCD LOOM
http://purl.bioontology.org/ontology/LNC/LA29641-0 LOINC LOOM
http://www.orpha.net/ORDO/Orphanet_861 ORDO LOOM
http://purl.jp/bio/4/id/200906091302138054 IOBC LOOM

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