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Ontology Browser

Parent Terms Term With Siblings Child Terms
ataxia telangiectasia +   
Bloom syndrome  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Diamond-Blackfan anemia +   
Fanconi anemia +   
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (DO)
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
Xrefs: GARD:6425 ;   ICD10CM:D61.09 ;   NCI:C62505 ;   OMIM:PS227650 ;   ORDO:84
Definition Sources: "DO" "DO", "DO" "DO", "DO" "DO"

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