| Metadata | |
|---|---|
| ID | DOID:0081334 |
| Name | Nestor-Guillermo progeria syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/32783369/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Progeria syndrome, childhood-onset, with osteolysis [EXACT] |
| Parent Relationships |
is_a progeroid syndrome |
| Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |