loading...| Preferred Name | Nijmegen breakage syndrome | |
| Synonyms |
immunodeficiency, microcephaly, and chromosomal instability ataxia-telangiectasia variant V1 microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies ataxia-telangiectasia variant V2 Nonsyndromal microcephaly autosomal recessive with normal intelligence microcephaly immunodeficiency lymphoreticuloma Seemanova syndrome 2 Nonsyndromal microcephaly, autosomal recessive, with normal intelligence microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies Nijmegen breakage syndrome AT V1 NBs Berlin breakage syndrome Seemanova syndrome Seemanova syndrome type 2 ataxia-telangiectasia, variant 1 microcephaly-immunodeficiency-lymphoreticuloma syndrome immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly, normal intelligence and immunodeficiency |
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| Definitions |
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009623 |
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| altLabel |
immunodeficiency, microcephaly, and chromosomal instability ataxia-telangiectasia variant V1 microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies ataxia-telangiectasia variant V2 Nonsyndromal microcephaly autosomal recessive with normal intelligence microcephaly immunodeficiency lymphoreticuloma Seemanova syndrome 2 Nonsyndromal microcephaly, autosomal recessive, with normal intelligence microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies Nijmegen breakage syndrome AT V1 NBs Berlin breakage syndrome Seemanova syndrome Seemanova syndrome type 2 ataxia-telangiectasia, variant 1 microcephaly-immunodeficiency-lymphoreticuloma syndrome immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly, normal intelligence and immunodeficiency |
|
| definition |
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. |
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| has characteristic | ||
| has_exact_synonym |
Nijmegen breakage syndrome AT V1 NBs Berlin breakage syndrome Seemanova syndrome Seemanova syndrome type 2 ataxia-telangiectasia, variant 1 microcephaly-immunodeficiency-lymphoreticuloma syndrome immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly, normal intelligence and immunodeficiency |
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| has_related_synonym |
immunodeficiency, microcephaly, and chromosomal instability ataxia-telangiectasia variant V1 microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies ataxia-telangiectasia variant V2 Nonsyndromal microcephaly autosomal recessive with normal intelligence microcephaly immunodeficiency lymphoreticuloma Seemanova syndrome 2 Nonsyndromal microcephaly, autosomal recessive, with normal intelligence microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies |
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| label |
Nijmegen breakage syndrome |
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| prefixIRI |
MONDO:0009623 |
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| prefLabel |
Nijmegen breakage syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome |
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| textual definition |
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021190 http://purl.obolibrary.org/obo/MONDO_0015161 |