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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| closeMatch | ||
| database_cross_reference |
DOID:7400 NCIT:C4692 GARD:3904 UMLS:C0398791 OMIM:251260 MedDRA:10067857 Orphanet:647 SCTID:234638009 MESH:D049932 |
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| 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. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0398791 http://identifiers.org/snomedct/234638009 http://purl.obolibrary.org/obo/DOID_7400 http://identifiers.org/mesh/D049932 |
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| has characteristic | ||
| has material basis in germline mutation in | ||
| 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 |
|
| id |
MONDO:0009623 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
Nijmegen breakage syndrome |
|
| notation |
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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| treeView |
http://purl.obolibrary.org/obo/MONDO_0021190 http://purl.obolibrary.org/obo/MONDO_0015161 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021190 http://purl.obolibrary.org/obo/MONDO_0015161 |