Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur. [ Orphanet:85447 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050638 (MONDO:equivalentTo)
  • EFO:0004129 (MONDO:equivalentTo)
  • UMLS:C0206245 (Orphanet:85447)
  • ICD10:G63.3* (Orphanet:85447)
  • SCTID:42295001 (MONDO:equivalentTo)
  • GARD:0000656 (OMIM-shared)
  • ICD9:277.39 (i2s)
  • Orphanet:85447 (OMIM:105210)
  • NCIT:C84554 (MONDO:equivalentTo)
  • MESH:C567782 (https://github.com/monarch-initiative/mondo/issues/2210)
  • UMLS:C2751492 (OMIM:105210)
  • OMIM:105210 (Orphanet:85447)
  • ICD10:E85.1+ (Orphanet:85447)
  • DOID:0050761 (MONDO:equivalentTo)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C3151471

http://linkedlifedata.com/resource/umls/id/C3151470

definition

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050638

http://identifiers.org/mesh/C567782

http://www.orpha.net/ORDO/Orphanet_85447

http://linkedlifedata.com/resource/umls/id/C0206245

http://purl.obolibrary.org/obo/NCIT_C84554

http://identifiers.org/snomedct/42295001

http://purl.obolibrary.org/obo/DOID_0050761

http://identifiers.org/omim/105210

http://linkedlifedata.com/resource/umls/id/C2751492

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/single-child-tags.sparql

has exact synonym

TTR amyloidosis

amyloidosis, hereditary, transthyretin-related

transthyretin amyloid polyneuropathy

Corino de Andrade's disease

TTR amyloid neuropathy

ATTRV30M-related amyloidosis

familial amyloid polyneuropathy type I

familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)

transthyretin-related hereditary amyloidosis

transthyretin amyloid neuropathy

familial amyloid polyneuropathy

familial transthyretin amyloidosis

paramyloidosis

amyloid Neuropathies, familial

familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type

has related synonym

amyloidosis transthyretin related

amyloid cardiomyopathy, transthyretin-related

hereditary amyloidosis, transthyretin-related

amyloid polyneuropathy, familial

amyloidosis, leptomeningeal, transthyretin-related

ATTRV30M amyloidosis

transthyretin amyloidosis

id

MONDO:0007100