| Metadata | |
|---|---|
| ID | DOID:3911 |
| Name | progeria |
| Definition | A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. https://www.genome.gov/Genetic-Disorders/Progeria, https://www.ncbi.nlm.nih.gov/pubmed/12714972, https://www.ncbi.nlm.nih.gov/pubmed/16838330 |
| Xrefs |
MEDDRA:10036794 SNOMEDCT_US_2023_03_01:190590004 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
HGPS [EXACT] Hutchinson Gilford syndrome [EXACT] Hutchinson-Gilford disease [EXACT] Hutchinson-Gilford Progeria syndrome [EXACT] |
| Parent Relationships |
is_a progeroid syndrome |