Human Disease Ontology

Last uploaded: June 28, 2024
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Preferred Name

Treacher Collins syndrome
Synonyms

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

MESH:D008342

ICD10CM:Q75.4

MIM:PS154500

SNOMEDCT_US_2023_03_01:205416009

UMLS_CUI:C0242387

GARD:9124

NCI:C75018
definition

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

MESH:D008342
has exact synonym

mandibulofacial dysostosis

Franceschetti syndrome
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:2908
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

Treacher Collins syndrome
notation

DOID:2908
prefLabel

Treacher Collins syndrome
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 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2908 BAO 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/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 BAO 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
http://www.gamuts.net/entity#Treacher_Collins_syndrome GAMUTS REST