loading...| Preferred Name |
Fanconi Anemia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62505 |
| ALT_DEFINITION |
A rare inherited disorder in which the bone marrow does not make blood cells. It is usually diagnosed in children between 2 and 15 years old. Symptoms include frequent infections, easy bleeding, and extreme tiredness. People with Fanconi anemia may have a small skeleton and brown spots on the skin. They also have an increased risk of developing certain types of cancer. |
| code |
C62505 |
| Concept_In_Subset | |
| Contributing_Source |
CTRP |
| DEFINITION |
An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increase incidence of development of neoplasias. |
| Display_Name |
Fanconi Anemia |
| FULL_SYN |
Pancytopenia, Congenital Fanconi's Anemia Panmyelopathy, Fanconi Primary Erythroid Hypoplasia |
| label |
Fanconi Anemia |
| Legacy_Concept_Name |
Fanconi_Anemia |
| Preferred_Name |
Fanconi Anemia |
| prefixIRI |
C62505 |
| prefLabel |
Fanconi Anemia |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0015625 |
| subClassOf |