Search Ontology:
Human Disease
Bowen-Conradi syndrome
- Term ID
- DOID:0050684
- Synonyms
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- 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
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- GARD:5950
- MESH:C537081
- MIM:211180
- ORDO:1270
- SNOMEDCT_US_2023_03_01:711153001
- UMLS_CUI:C1859405
- Ontology
- Human Disease ( DOID:0050684 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models