|
General Information
|
| Term |
multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ID (Ontology) |
DOID:0080139 (Human Disease) |
| Definition |
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. |
| Also Known As |
"developmental and epileptic encephalopathy 20" ; "early infantile epileptic encephalopathy 20" ; "glycosylphosphatidylinositol biosynthesis defect 4" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 5 | | Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Alleles | Genes | Human Disease Models |
|---|
multiple congenital anomalies-hypotonia-seizures syndrome 2 | 5 | 2 | 1 | ameliorates | multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 | -- | -- | for disease ribbon | multiple congenital anomalies-hypotonia-seizures syndrome 2 | -- | 1 | -- | model of | multiple congenital anomalies-hypotonia-seizures syndrome 2 | 3 | 1 | -- |
|
Relationships