Terminology Service for NFDI4Health
Bowen-Conradi syndrome
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http://purl.obolibrary.org/obo/DOID_0050684
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. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Label
Bowen-Conradi syndrome
Synonyms
- BWCNS
- Bowen Hutterite syndrome
- Bowen-Conradi Hutterite syndrome
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:0050684