Jump to:
Spinner 000000 16px loading...
Preferred Name

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Synonyms

AMYLOID POLYNEUROPATHY, FAMILIAL
ID

http://purl.bioontology.org/ontology/OMIM/105210
altLabel

AMYLOID POLYNEUROPATHY, FAMILIAL

HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED

TRANSTHYRETIN AMYLOIDOSIS

AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED

AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED

FAP
cui

C2751492

C3151470

C3151471
Gene Locus

18q11.2-q12.1
Gene Symbol

TTR

PALB
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036362

http://purl.bioontology.org/ontology/OMIM/MTHU002513

http://purl.bioontology.org/ontology/OMIM/MTHU001038

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU026591

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU036388

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU036394

http://purl.bioontology.org/ontology/OMIM/MTHU036392

http://purl.bioontology.org/ontology/OMIM/MTHU036390

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU002823

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU019598

http://purl.bioontology.org/ontology/OMIM/MTHU016323

http://purl.bioontology.org/ontology/OMIM/MTHU008082

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU036389

http://purl.bioontology.org/ontology/OMIM/MTHU036387

http://purl.bioontology.org/ontology/OMIM/MTHU011164

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU036397

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU036348

http://purl.bioontology.org/ontology/OMIM/MTHU036391

http://purl.bioontology.org/ontology/OMIM/MTHU019597

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU013464

http://purl.bioontology.org/ontology/OMIM/MTHU019601
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

105210
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Scope Statement

Caused by mutation in the transthyretin gene (TTR, 176300.0001) [MOLECULAR BASIS]

Neuropathic, cardiac, leptomeningeal, and ocular predominance may occur [MISCELLANEOUS]

Highly variable phenotype [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]

Onset in adulthood [MISCELLANEOUS]

Systemic amyloid deposition may occur [MISCELLANEOUS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567782 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C567782 Medical Subject Headings / 医学主题词表 LOOM