loading...| Preferred Name | Nijmegen breakage syndrome | |
| Synonyms |
ataxia-telangiectasia variant microcephaly-immunodeficiency-lymphoreticuloma syndrome Microcephaly, normal intelligence and immunodeficiency Seemanova syndrome II NBS Berlin breakage syndrome immunodeficiency-microcephaly-chromosomal instability syndrome Seemanova syndrome type 2 |
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| Definitions |
A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_7400 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:234638009 UMLS_CUI:C0398791 MESH:D049932 GARD:3904 MIM:251260 NCI:C4692 ORDO:647 |
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| definition |
A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. |
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| has exact synonym |
ataxia-telangiectasia variant microcephaly-immunodeficiency-lymphoreticuloma syndrome Microcephaly, normal intelligence and immunodeficiency Seemanova syndrome II NBS Berlin breakage syndrome immunodeficiency-microcephaly-chromosomal instability syndrome Seemanova syndrome type 2 |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:7400 |
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| in_subset | ||
| label |
Nijmegen breakage syndrome |
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| notation |
DOID:7400 |
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| prefLabel |
Nijmegen breakage syndrome |
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| subClassOf |