ZFIN Human Disease: Treacher Collins syndrome

OBO ID: DOID:2908

Term Name:	Treacher Collins syndrome		Search Ontology:
Synonyms:	Franceschetti syndrome mandibulofacial dysostosis
Definition:	A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. https://www.ncbi.nlm.nih.gov/books/NBK1532/
References:	GARD:9124 ICD10CM:Q75.4 MESH:D008342 NCI:C75018 OMIM:PS154500 SNOMEDCT_US_2023_03_01:205416009 UMLS_CUI:C0242387
Ontology:	Human Disease ( DOID:2908 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms
has subtype:	Treacher Collins syndrome 1 Treacher Collins syndrome 2 Treacher Collins syndrome 3 Treacher Collins syndrome 4 Treacher Collins syndrome 1 Treacher Collins syndrome 2 Treacher Collins syndrome 3 Treacher Collins syndrome 4 Show first 5 Terms

OTHER Treacher Collins syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
eftud2^fn10a/fn10a (TL)	standard conditions	Lei et al., 2017
polr1c^{hi1124Tg/hi1124Tg}	standard conditions	(2)
polr1d^{hi2393Tg/hi2393Tg}	standard conditions	Noack Watt et al., 2016
AB + MO1-polr1b	standard conditions	Sanchez et al., 2019
AB + MO1-polr1c	standard conditions	Lau et al., 2016
AB + MO2-polr1c	standard conditions	Kwong et al., 2017
WT + MO1-nolc1 + MO2-nolc1	standard conditions	Weiner et al., 2012
WT + MO3-nolc1	standard conditions	(2)
hu5910Tg + MO1-polr1b	standard conditions	Sanchez et al., 2019

PHENOTYPE No data available

CITATIONS (10)