Progeria
Disease ID: disease_node_6328
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| Dbxref | GARD:7467, ICD10CM:E34.8, MEDDRA:10036794, MESH:D011371, MIM:176670, NCI:C34951, ORDO:740, SNOMEDCT_US_2023_03_01:190590004, UMLS_CUI:C0033300 |
|---|---|
| Subclassof | DOID_0081332, DOID_0050736 |
| Data Source | DOID, MESH |
| Synonyms | HGPS, Hutchinson Gilford syndrome, Hutchinson-Gilford Progeria syndrome, Hutchinson-Gilford disease |
| Mesh Id | D011371 |
| Mesh Label | Progeria |
| Mesh Subclassof | D008661, D000083083 |
| Doid Label | progeria |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Existence Starts During | HP_0003593, HP_0011463 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_6328 |
| Doid Id | DOID_3911 |
| Label | Progeria |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Progeroid Syndrome(ID:disease_node_19958) (Disease)