|
| General Information | |||
|---|---|---|---|
| Term | NFIA-related disorder | ID (Ontology) | DOID:0060409 (Human Disease) |
| Definition | A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. | ||
| Also Known As | "1p31p32 microdeletion syndrome" ; "brain malformations with or without urinary tract defects" ; "Chromosome 1, Monosomy 1p32" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
||||||
autosomal genetic disease |__autosomal dominant disease_____ chromosomal disease | |__chromosomal deletion syndrome__| disease | |__syndrome_______________________| NFIA-related disorder 4 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal dominant disease chromosomal deletion syndrome syndrome |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
ICD10CM:Q93.5 MESH:C535594 MIM:613735 ORDO:401986 |
|||