|
General Information
|
| Term |
Nestor-Guillermo progeria syndrome |
ID (Ontology) |
DOID:0081334 (Human Disease) |
| Definition |
A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. |
| Also Known As |
"Progeria syndrome, childhood-onset, with osteolysis" |
| 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 |
|---|
Nestor-Guillermo progeria syndrome | 4 | 2 | 1 | ameliorates | Nestor-Guillermo progeria syndrome | 3 | -- | -- | for disease ribbon | Nestor-Guillermo progeria syndrome | -- | 1 | -- | model of | Nestor-Guillermo progeria syndrome | 1 | 1 | -- |
|
Relationships