ZFIN Human Disease: Bowen-Conradi syndrome

OBO ID: DOID:0050684

Term Name:	Bowen-Conradi syndrome		Search Ontology:
Synonyms:	Bowen Hutterite syndrome Bowen-Conradi Hutterite syndrome BWCNS
Definition:	A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. (2)
References:	GARD:5950 MESH:C537081 OMIM:211180 ORDO:1270 SNOMEDCT_US_2023_03_01:711153001 UMLS_CUI:C1859405
Ontology:	Human Disease ( DOID:0050684 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Bowen-Conradi syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EMG1	emg1	Bowen-Conradi syndrome	211180

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None