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Summary Literature (1)
DOID:0050684 - Bowen-Conradi syndrome

Disease Ontology 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.

Synonyms: Bowen Hutterite syndrome, Bowen-Conradi Hutterite syndrome, BWCNS

Xenbase Genes : emg1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008879 - Bowen-Conradi syndrome

MIM:
MIM:211180 - BOWEN-CONRADI SYNDROME; BWCNS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)