loading...| Preferred Name | Fanconi Anemia | |
| Synonyms |
Fanconi Anemia Panmyelopathy, Fanconi Primary Erythroid Hypoplasia Fanconi's anemia Fanconi's Anemia Pancytopenia, Congenital |
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| Definitions |
An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increased incidence of the development of neoplasias. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62505 |
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| 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. |
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| code |
C62505 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174237 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132009 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C179491 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174251 |
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| Contributing_Source |
Cellosaurus CCPS CTRP GDC NICHD PCDC |
|
| DEFINITION |
An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increased incidence of the development of neoplasias. |
|
| Display_Name |
Fanconi Anemia |
|
| FULL_SYN |
Fanconi Anemia Panmyelopathy, Fanconi Primary Erythroid Hypoplasia Fanconi's anemia Fanconi's Anemia Pancytopenia, Congenital |
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| Is_PCDC_EWS_Authorized_Value_For_Variable | ||
| Is_Value_For_GDC_Property | ||
| label |
Fanconi Anemia |
|
| Legacy Concept Name |
Fanconi_Anemia |
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| Maps_To |
Fanconi Anemia |
|
| Preferred_Name |
Fanconi Anemia |
|
| prefixIRI |
Thesaurus:C62505 |
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| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24385 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86017 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18120 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86025 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84945 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86549 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63526 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85995 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86553 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86551 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20814 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0015625 |
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| subClassOf |