Search Ontology:
Human Disease
Holoprosencephaly 13, X-linked
- Term ID
- DOID:0060954
- Synonyms
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- Definition
- A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. https://pubmed.ncbi.nlm.nih.gov/31334757/
- References
- Ontology
- Human Disease ( DOID:0060954 )
- is a type of
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