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General Information
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| Term |
DeSanto-Shinawi syndrome |
ID (Ontology) |
DOID:0081126 (Human Disease) |
| Definition |
A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. |
| Also Known As |
"Chromosome 10p12-p11 deletion syndrome" ; "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" ; "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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DeSanto-Shinawi syndrome | 1 | 1 | 1 | for disease ribbon | DeSanto-Shinawi syndrome | -- | 1 | -- | model of | DeSanto-Shinawi syndrome | 1 | 1 | -- |
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Relationships