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| Term | progeria | ID (Ontology) | DOID:3911 (Human Disease) |
| 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. | ||
| Also Known As | "HGPS" ; "Hutchinson Gilford syndrome" ; "Hutchinson-Gilford disease" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ syndrome | |__progeroid syndrome__________| progeria 8 rec. |
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| Is a |
autosomal dominant disease progeroid syndrome |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:7467 ICD10CM:E34.8 MEDDRA:10036794 MESH:D011371 MIM:176670 NCI:C34951 ORDO:740 SNOMEDCT_US_2023_03_01:190590004 UMLS_CUI:C0033300 |
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