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DO Term : progeria [DOID:3911] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • Hutchinson Gilford syndrome,
  • UMLS_CUI:C0033300,
  • MESH:D011371,
  • ORDO:740,
  • HGPS,
  • Hutchinson-Gilford Progeria syndrome,
  • Hutchinson-Gilford disease,
  • NCI:C34951,
  • MEDDRA:10036794,
  • 176670,
  • SNOMEDCT_US_2023_03_01:190590004,
  • GARD:7467,
  • ICD10CM:E34.8,
  • OMIM:176670
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents