Nestor-Guillermo Progeria Syndrome
Disease ID: disease_node_19959
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| Dbxref | GARD:11008, MIM:614008, ORDO:280576 |
|---|---|
| Subclassof | DOID_0081332, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Progeria syndrome, childhood-onset, with osteolysis |
| Doid Label | Nestor-Guillermo progeria syndrome |
| Doid Description | 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. |
| Existence Starts During | HP_0011463 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19959 |
| Doid Id | DOID_0081334 |
| Label | Nestor-Guillermo Progeria Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Progeroid Syndrome(ID:disease_node_19958) (Disease)