ZFIN Human Disease: Saethre-Chotzen syndrome

OBO ID: DOID:14768

Term Name:	Saethre-Chotzen syndrome		Search Ontology:
Synonyms:	acrocephalosyndactyly type III
Definition:	An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. (5)
References:	GARD:7598 MESH:D000168 NCI:C75034 OMIM:101400 OMIM:180750 ORDO:794 SNOMEDCT_US_2023_03_01:390726000 UMLS_CUI:C0175699
Ontology:	Human Disease ( DOID:14768 )

Relationships

is a type of:	acrocephalosyndactylia autosomal dominant disease acrocephalosyndactylia autosomal dominant disease Show first 5 Terms

OTHER Saethre-Chotzen syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FGFR2	fgfr2	Saethre-Chotzen syndrome	101400
TWIST1	twist1b twist1a	Robinow-Sorauf syndrome	180750
		Saethre-Chotzen syndrome with or without eyelid anomalies	101400

ZEBRAFISH MODELS

Fish	Conditions	Citations
twist1b^el570/el570; tcf12^el548/el548	standard conditions	Teng et al., 2018

PHENOTYPE No data available

CITATIONS (2)