Experimental Factor Ontology

Last uploaded: November 18, 2024

Preferred Name	obsolete_Fanconi anemia
Synonyms	Fanconi pancytopenia
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.
ID	http://www.orpha.net/ORDO/Orphanet_84
Obsolete	true
database_cross_reference	ICD10:D61.0 OMIM:227650 OMIM:613390 OMIM:300514 OMIM:610832 OMIM:614082 OMIM:614087 OMIM:614083 UMLS:C0015625 MeSH:D005199 OMIM:615272 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:613951 OMIM:603467 OMIM:609054 OMIM:609053 OMIM:616435 OMIM:617243 OMIM:617244 OMIM:617247 MedDRA:10055206
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.
definition_citation	orphanet
deprecated	true
has_exact_synonym	Fanconi pancytopenia
label	obsolete_Fanconi anemia
obsoleted_in_version	3.41.0
preferred label	obsolete_Fanconi anemia
prefLabel	obsolete_Fanconi anemia
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0019391
subClassOf	http://www.w3.org/2002/07/owl#Thing

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_84	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_84	ORDO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_84	CCONT	LOOM