|
General Information
|
| Term |
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
ID (Ontology) |
DOID:0081265 (Human Disease) |
| Definition |
An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. |
| Also Known As |
"IDDBAS" |
| 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 |
|---|
|
| 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 abnormal behavior, microcephaly, and short stature | 2 | 1 | 1 | for disease ribbon | intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | -- | 1 | -- | model of | intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 2 | 1 | -- |
|