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Fanconi Anemia

Go to external page http://purl.obolibrary.org/obo/NCIT_C62505

An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increase incidence of development of neoplasias. [ ]

Term info

Label

Fanconi Anemia

Synonyms
  • Fanconi Anemia
  • Fanconi's Anemia
  • Fanconi's anemia
  • Pancytopenia, Congenital
  • Panmyelopathy, Fanconi
  • Primary Erythroid Hypoplasia
Subsets

NCIT_C90259, NCIT_C118168, NCIT_C132009, NCIT_C116977

ALT DEFINITION

A chromosomal instability syndrome that is the most common form of inherited aplastic anemia. It is inherited as an autosomal recessive or X-linked disorder. In addition to bone marrow failure, it is associated with skeletal abnormalities and increased incidence of the development of malignancy. Multiple genes are responsible for Fanconi anemia., 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.

Contributing Source

CTRP, NICHD

Display Name

Fanconi Anemia

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C2870

Legacy Concept Name

Fanconi_Anemia

Maps To

Fanconi Anemia

NICHD Hierarchy Term

Fanconi Anemia

Preferred Name

Fanconi Anemia

Semantic Type

Disease or Syndrome

UMLS CUI

C0015625

code

C62505