loading...| Preferred Name | Fanconi anemia | |
| Synonyms |
Fanconi panmyelopathy Fanconi's anaemia Fanconi anaemia Fanconi's anemia Fanconi pancytopenia |
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| Definitions |
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_13636 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. |
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| database_cross_reference |
NCI:C62505 UMLS_CUI:C0015625 SNOMEDCT_US_2021_09_01:30575002 ICD10CM:D61.09 MESH:D005199 GARD:6425 ORDO:84 OMIM:PS227650 |
|
| definition |
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. |
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| has_exact_synonym |
Fanconi panmyelopathy Fanconi's anaemia Fanconi anaemia Fanconi's anemia Fanconi pancytopenia |
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| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. |
|
| id |
DOID:13636 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Fanconi anemia |
|
| notation |
DOID:13636 |
|
| note |
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. |
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| prefLabel |
Fanconi anemia |
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| subClassOf |