loading...| Preferred Name | Nijmegen breakage syndrome | |
| Synonyms |
Nonsyndromal microcephaly, autosomal recessive, with normal intelligence immunodeficiency, microcephaly, and chromosomal instability microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies Seemanova syndrome 2 microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies ataxia-telangiectasia variant V2 Nonsyndromal microcephaly autosomal recessive with normal intelligence microcephaly immunodeficiency lymphoreticuloma ataxia-telangiectasia variant V1 microcephaly-immunodeficiency-lymphoreticuloma syndrome immunodeficiency-microcephaly-chromosomal instability syndrome Seemanova syndrome type 2 ataxia-telangiectasia, variant 1 Nijmegen breakage syndrome Berlin breakage syndrome Seemanova syndrome microcephaly, normal intelligence and immunodeficiency AT V1 NBs |
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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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009623 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009623 |
|
| database_cross_reference |
MedDRA:10067857 icd11.foundation:1925662580 NANDO:1200332 NANDO:2200706 OMIM:251260 Orphanet:647 MEDGEN:140771 SCTID:234638009 UMLS:C0398791 MESH:D049932 DOID:7400 GARD:3904 NCIT:C4692 |
|
| 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. |
|
| has_exact_synonym |
microcephaly-immunodeficiency-lymphoreticuloma syndrome immunodeficiency-microcephaly-chromosomal instability syndrome Seemanova syndrome type 2 ataxia-telangiectasia, variant 1 Nijmegen breakage syndrome Berlin breakage syndrome Seemanova syndrome microcephaly, normal intelligence and immunodeficiency AT V1 NBs |
|
| has_related_synonym |
Nonsyndromal microcephaly, autosomal recessive, with normal intelligence immunodeficiency, microcephaly, and chromosomal instability microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies Seemanova syndrome 2 microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies ataxia-telangiectasia variant V2 Nonsyndromal microcephaly autosomal recessive with normal intelligence microcephaly immunodeficiency lymphoreticuloma ataxia-telangiectasia variant V1 |
|
| id |
MONDO:0009623 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Nijmegen breakage syndrome |
|
| notation |
MONDO:0009623 |
|
| preferred label |
Nijmegen breakage syndrome |
|
| prefLabel |
Nijmegen breakage syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome |
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| skos_closeMatch | ||
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0398791 http://identifiers.org/snomedct/234638009 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1925662580 http://purl.obolibrary.org/obo/DOID_7400 http://identifiers.org/medgen/140771 http://identifiers.org/mesh/D049932 |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0008499 http://purl.obolibrary.org/obo/MONDO_0015161 |