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Cell Culture Ontology
Last uploaded:
July 23, 2014
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| 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.
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| Synonyms |
Panmyelopathy, Fanconi
Fanconi panmyelopathy
pancytopenia, congenital
Fanconi's anemia
Fanconi's anaemia
Fanconi anemia
Fanconi pancytopenia
primary erythroid hypoplasia
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| 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. |
|---|---|
| preferred label |
Fanconi anemia
|
| label |
Fanconi anemia
|
| prefLabel |
Fanconi anemia
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| database_cross_reference |
NANDO:1200891
NANDO:2200652
OMIMPS:227650
UMLS:C0015625
MEDGEN:41967
SCTID:30575002
NCIT:C62505
NANDO:1200303
Orphanet:84
ICD9:284.09
MESH:D005199
MedDRA:10055206
DOID:13636
GARD:6425
NORD:1132
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| IAO_0000233 | |
| notation |
MONDO:0019391
|
| in_subset |
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| id |
MONDO:0019391
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| skos_exactMatch |
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| subClassOf |
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| skos_closeMatch | |
| type | |
| has_exact_synonym |
Panmyelopathy, Fanconi
Fanconi panmyelopathy
pancytopenia, congenital
Fanconi's anemia
Fanconi's anaemia
Fanconi anemia
Fanconi pancytopenia
primary erythroid hypoplasia
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|
| curated_content_resource | |
| excluded_subClassOf |
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