loading...| Preferred Name |
Fanconi Anemia |
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| Synonyms |
constitutional aplastic anemia |
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| Definitions |
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.n (source : MSH) |
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| ID |
http://doe-generated-ontology.com/OntoAD#C0015625 |
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| altLabel |
constitutional aplastic anemia congenital aplastic anemia Panmyelopathy, Fanconi anémie familiale perniciosiforme Fanconi pancytopenia syndrome Fanconi dysplasia syndrome de pancytopénie de Fanconi Primary Erythroid Hypoplasia fanconi syndrome Pancytopénie de Fanconi Fanconi's hypoplastic anemia Fanconi's anemia Pancytopenia, Congenital Fanconi's familial refr.anaem. syndrome de pancytopénie-dysmélie FANCONI ANEMIA, COMPLEMENTATION GROUP A Fanconi's familial refractory anemia FANCA |
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| definition |
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.n (source : MSH) |
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| disease_has_associated_disease | ||
| has_definitional_manifestation | ||
| has_manifestation | ||
| has_severity | ||
| hiddenLabel |
AnémieDeFanconi FanconiAnemia |
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| prefixIRI |
OntoAD:C0015625 |
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| prefLabel |
Fanconi Anemia Anémie de Fanconi |
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| subClassOf |
http://doe-generated-ontology.com/OntoAD#C0158995 http://doe-generated-ontology.com/OntoAD#C0002874 http://doe-generated-ontology.com/OntoAD#C0268134 http://doe-generated-ontology.com/OntoAD#C2586012 http://doe-generated-ontology.com/OntoAD#C2986691 |