Preferred Name | Nijmegen breakage syndrome | |
Synonyms |
Immunodeficiency - microcephaly - chromosomal instability Ataxia-telangiectasia, variant 1 AT V1 NBS Berlin breakage syndrome Microcephaly - immunodeficiency - lymphoreticuloma Seemanova syndrome type 2 |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_2823 |
|
ageOfOnset |
Neonatal/infancy |
|
altLabel |
Immunodeficiency - microcephaly - chromosomal instability Ataxia-telangiectasia, variant 1 AT V1 NBS Berlin breakage syndrome Microcephaly - immunodeficiency - lymphoreticuloma Seemanova syndrome type 2 |
|
id_MedDRA |
10067857 |
|
id_Medline |
neant |
|
id_MeSH |
C531759 D049932 |
|
id_MIM |
251260 |
|
id_Orpha |
647 |
|
id_SNOMEDCT |
234638009 |
|
id_UMLS |
C0398791 C2930831 |
|
inheritance |
Autosomal recessive |
|
patType |
malformation syndrome |
|
prefixIRI |
hrdo:pat_id_2823 |
|
prefLabel |
Nijmegen breakage syndrome |
|
prevalence |
Unknown |
|
subClassOf |
Create mapping