Mondo Disease Ontology

Last uploaded: July 7, 2026
Id http://purl.obolibrary.org/obo/MONDO_0019391
http://purl.obolibrary.org/obo/MONDO_0019391
Preferred Name

Fanconi anemia
Definitions
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
Synonyms
Panmyelopathy, Fanconi
pancytopenia, congenital
Fanconi's anemia
Fanconi anemia
Fanconi pancytopenia
primary erythroid hypoplasia
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
prefLabel
Fanconi anemia
label
Fanconi anemia
has_exact_synonym
Panmyelopathy, Fanconi
pancytopenia, congenital
Fanconi's anemia
Fanconi anemia
Fanconi pancytopenia
primary erythroid hypoplasia
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exactMatch
type
id
MONDO:0019391
in_subset
notation
MONDO:0019391
closeMatch
excluded subClassOf
database_cross_reference
NANDO:1200891
NANDO:2200652
OMIMPS:227650
UMLS:C0015625
MEDGEN:41967
SCTID:30575002
NCIT:C62505
NANDO:1200303
Orphanet:84
ICD9:284.09
GARD:0006425
MESH:D005199
MedDRA:10055206
DOID:13636
NORD:1132
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should_conform_to
curated content resource
subClassOf
IAO_0000233
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