Terminology Service for NFDI4Health

progeria

Go to external page http://purl.obolibrary.org/obo/DOID_3911


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

progeria

Synonyms
  • HGPS
  • Hutchinson Gilford syndrome
  • Hutchinson-Gilford Progeria syndrome
  • Hutchinson-Gilford disease
database cross reference
Subsets

DO_FlyBase_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:3911