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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| 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 |
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