loading...| Preferred Name | Fanconi Anemia | |
| Synonyms |
constitutional aplastic anemia congenital aplastic anemia Panmyelopathy, Fanconi Fanconi pancytopenia syndrome Fanconi dysplasia Primary Erythroid Hypoplasia fanconi syndrome Fanconi's hypoplastic anemia Fanconi's anemia Pancytopenia, Congenital Fanconi's familial refr.anaem. FANCONI ANEMIA, COMPLEMENTATION GROUP A Fanconi's familial refractory anemia FANCA |
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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 Fanconi pancytopenia syndrome Fanconi dysplasia Primary Erythroid Hypoplasia fanconi syndrome Fanconi's hypoplastic anemia Fanconi's anemia Pancytopenia, Congenital Fanconi's familial refr.anaem. 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 | ||
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| has_manifestation | ||
| has_severity | ||
| hiddenLabel |
FanconiAnemia |
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| prefixIRI |
OntoAD:C0015625 |
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| prefLabel |
Fanconi Anemia |
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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 |