Terminology Service for NFDI4Health

Finnish type amyloidosis

Go to external page http://purl.obolibrary.org/obo/DOID_0050637


An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptoms corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

Term info

Label

Finnish type amyloidosis

Synonyms
  • AMYLOIDOSIS, MERETOJA TYPE
database cross reference
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050637