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Metadata
ID DOID:3911
Name progeria
Definition A 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 LMNA on chromosome 1q22.
https://www.ncbi.nlm.nih.gov/pubmed/12714972, https://www.ncbi.nlm.nih.gov/pubmed/16838330
Xrefs

GARD:7467

ICD10CM:E34.8

MEDDRA:10036794

MESH:D011371

NCI:C34951

OMIM:176670

ORDO:740

SNOMEDCT_US_2020_09_01:190590004

UMLS_CUI:C0033300

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

HGPS [EXACT]

Hutchinson Gilford syndrome [EXACT]

Hutchinson-Gilford disease [EXACT]

Hutchinson-Gilford Progeria syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal genetic disease

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