loading...| Preferred Name |
Inherited Bone Marrow Failure Syndrome |
|
| Synonyms |
|
|
| Definitions |
A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C94810 |
|
| ALT_DEFINITION |
A rare disorder in which a person's bone marrow is unable to make enough blood cells and there is a family history of the same disorder. There are several different types of inherited bone marrow failure syndrome, and patients with one of them are at high risk of forming acute leukemia or certain solid tumors. |
|
| code |
C94810 |
|
| definition |
A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. |
|
| label |
Inherited Bone Marrow Failure Syndrome |
|
| Preferred_Name |
Inherited Bone Marrow Failure Syndrome |
|
| prefixIRI |
NCIT:C94810 |
|
| prefLabel |
Inherited Bone Marrow Failure Syndrome |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C2986691 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94810 | NCIT | LOOM | |
| http://doe-generated-ontology.com/OntoAD#C2986691 | ONTOAD | LOOM | |
| http://purl.bioontology.org/ontology/MEDDRA/10071202 | MEDDRA | LOOM |