FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Holoprosencephaly 13, X-linked ID (Ontology) DOID:0060954 (Human Disease)
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.
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 Holoprosencephaly 13, X-linked       2
 for disease ribbon | Holoprosencephaly 13, X-linked       2
 model of | Holoprosencephaly 13, X-linked       2
Spanning Tree (Parents/Children)
Only view relationship: 
X-linked monogenic disease
 |__X-linked dominant disease__________
 |__X-linked recessive disease_________|
syndrome                               |
 |__holoprosencephaly__________________|
congenital nervous system abnormality  |
 |__holoprosencephaly__________________|
                                       Holoprosencephaly 13, X-linked  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a X-linked dominant disease
X-linked recessive disease
holoprosencephaly
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
MIM:301043