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Metadata
ID DOID:0050684
Name Bowen-Conradi syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/19463982, https://www.omim.org/entry/211180
Xrefs

GARD:5950

MESH:C537081

OMIM:211180

ORDO:1270

SNOMEDCT_US_2023_03_01:711153001

UMLS_CUI:C1859405

Subsets

DO_rare_slim

Synonyms

Bowen Hutterite syndrome [EXACT]

Bowen-Conradi Hutterite syndrome [EXACT]

BWCNS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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