|
General Information
|
| Term |
intellectual developmental disorder with short stature and behavioral abnormalities |
ID (Ontology) |
DOID:0111674 (Human Disease) |
| Definition |
A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. |
| Also Known As |
"IDDSSBA" |
| 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 | 4 | | 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 |
|---|
intellectual developmental disorder with short stature and behavioral abnormalities | 4 | 2 | 1 | for disease ribbon | intellectual developmental disorder with short stature and behavioral abnormalities | -- | 1 | -- | model of | intellectual developmental disorder with short stature and behavioral abnormalities | 4 | 1 | -- |
|
Relationships