loading...| Preferred Name | Fanconi Anemia [Disease/Finding] | |
| Synonyms |
Fanconi Panmyelopathy Fanconi Pancytopenia Fanconi Anemia Anemia, Fanconi Fanconi's Anemia Fanconi Hypoplastic Anemia |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001209 |
|
| altLabel |
Fanconi Panmyelopathy Fanconi Pancytopenia Fanconi Anemia Anemia, Fanconi Fanconi's Anemia Fanconi Hypoplastic Anemia |
|
| cui |
C0015625 |
|
| MESH 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.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004) |
|
| MESH DUI |
D005199 |
|
| MeSH name |
Fanconi Anemia |
|
| MESH UI |
M0008227 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001209 |
|
| NUI |
N0000001209 |
|
| prefLabel |
Fanconi Anemia [Disease/Finding] |
|
| SNOMED CID |
30575002 |
|
| tui |
T047 |
|
| subClassOf |