Treacher Collins syndrome Disease Ontology Browser

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Disease Ontology Browser

Treacher Collins syndrome (DOID:2908)
Alliance: disease page
Synonyms: Franceschetti syndrome; mandibulofacial dysostosis
Alt IDs: ICD10CM:Q75.4, MESH:D008342, NCI:C75018, OMIM:PS154500, UMLS_CUI:C0242387
Definition: A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.

Disease References using Mouse Models (5)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23

Allelic Composition	Genetic Background	Reference	Phenotypes
Tcof1tm1Mjd/Tcof1+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:62928	View
Tcof1tm1Mjd/Tcof1+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/1	J:112900	View