Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
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 +   
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 +   

Synonyms
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: http://en.wikipedia.org/wiki/Fanconi_anemia "DO" "DO", http://ghr.nlm.nih.gov/condition/fanconi-anemia "DO" "DO", http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 "DO" "DO"

paths to the root