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Ontology Browser

Parent Terms Term With Siblings Child Terms
ataxia telangiectasia +   
Bloom syndrome  
Cockayne syndrome +   
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Diamond-Blackfan anemia +   
Fanconi anemia +   
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,, August 20, 2004)
immunodeficiency 54  
Li-Fraumeni syndrome +   
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome  
Lynch syndrome +   
N syndrome 
Nijmegen breakage syndrome +   
Nijmegen Breakage Syndrome-Like Disorder  
Rothmund-Thomson syndrome +   
severe combined immunodeficiency +   
Werner syndrome +   
xeroderma pigmentosum +   

Exact Synonyms: Fanconi Anemias ;   Fanconi Hypoplastic Anemia ;   Fanconi Pancytopenia ;   Fanconi Panmyelopathy ;   Fanconi anaemia ;   Fanconi's anaemia ;   Fanconi's anemia
Primary IDs: MESH:D005199
Alternate IDs: RDO:0003319
Xrefs: GARD:6425 ;   ICD10CM:D61.09 ;   NCI:C62505 ;   OMIM:PS227650 ;   ORDO:84
Definition Sources: "DO", "DO", "DO", MESH:D005199

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.