loading...| Preferred Name | Fanconi Anemia | |
| Synonyms |
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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://purl.obolibrary.org/obo/NCIT_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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| Contributing_Source |
Cellosaurus CCPS CTRP GDC NICHD PCDC |
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| definition |
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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| Display_Name |
Fanconi Anemia |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C179491 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C174237 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C132009 http://purl.obolibrary.org/obo/NCIT_C177281 http://purl.obolibrary.org/obo/NCIT_C179478 http://purl.obolibrary.org/obo/NCIT_C165258 http://purl.obolibrary.org/obo/NCIT_C118168 |
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| Is_PCDC_EWS_Permissible_Value_For_Variable | ||
| Is_Value_For_GDC_Property | ||
| label |
Fanconi Anemia |
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| Legacy Concept Name |
Fanconi_Anemia |
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| Maps_To |
Fanconi Anemia |
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| Preferred_Name |
Fanconi Anemia |
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| prefixIRI |
NCIT:C62505 |
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| prefLabel |
Fanconi Anemia |
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| Related_To_Genetic_Biomarker |
http://purl.obolibrary.org/obo/NCIT_C63526 http://purl.obolibrary.org/obo/NCIT_C20814 http://purl.obolibrary.org/obo/NCIT_C84945 http://purl.obolibrary.org/obo/NCIT_C92476 http://purl.obolibrary.org/obo/NCIT_C18120 http://purl.obolibrary.org/obo/NCIT_C86025 http://purl.obolibrary.org/obo/NCIT_C92474 http://purl.obolibrary.org/obo/NCIT_C85995 http://purl.obolibrary.org/obo/NCIT_C86017 http://purl.obolibrary.org/obo/NCIT_C86549 http://purl.obolibrary.org/obo/NCIT_C86553 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0015625 |
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| subClassOf |