loading...| Preferred Name | Nijmegen Breakage Syndrome | |
| Synonyms |
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|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038519 |
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| Database_Cross_Reference |
MTH:NOCODE MEDCIN:339842 CSP:5005-0018 MSH:D049932 OMIM:251260 NDFRT:N0000171677 SNOMEDCT_US:234638009 OMIM:602667 NCI:C4692 JABL:486 DO:DOID:7400 RCD:X20Ie MDR:10067857 |
|
| label |
Nijmegen Breakage Syndrome |
|
| MCID |
MC00140479 |
|
| PMOID |
PMO:00038519 |
|
| prefixIRI |
pmo:PMO_00038519 |
|
| prefLabel |
Nijmegen Breakage Syndrome |
|
| Synonym |
NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE Seemanova syndrome II Nijmegen breakage syndrome SEEMANOVA SYNDROME II Seemanova Syndrome Variant V1s, Ataxia-Telangiectasia Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence Ataxia-Telangiectasia Variant V1s ATAXIA-TELANGIECTASIA VARIANT V1 NIJMEGEN BREAKAGE SYNDROME Nijmegen breakage syndrome (NBS) Syndrome, Berlin Breakage IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY chromosomal breakage-immunodeficiency syndrome AT-V1 Nijmegen Breakage Syndrome [Disease/Finding] immunodeficiency microcephaly, normal intelligence At-V1 Seemanova Syndrome 2 Variant 1s, Ataxia-Telangiectasia Ataxia-Telangiectasia Variant V1 Variant V1, Ataxia-Telangiectasia Seemanova Syndrome II Ataxia-Telangiectasia Variant 1s Syndrome, Nijmegen Breakage Ataxia-Telangiectasia Variant 1 Microcephaly, normal intelligence and immunodeficiency NBS - Nijmegen breakage syndrome Seemanova syndrome 2 Ataxia Telangiectasia Variant 1 Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies Berlin breakage syndrome Seemanova syndrome NBS - Nijmegen breakage syndr NBS Ataxia Telangiectasia Variant V1 MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES microcephaly, normal intelligence, and immunodeficiency (diagnosis) microcephaly, normal intelligence, and immunodeficiency Breakage Syndrome, Berlin Microcephaly, normal intelligence and immunodeficiency (disorder) BERLIN BREAKAGE SYNDROME BBS Microceph+norm intel+immunodef Immunodeficiency, Microcephaly, And Chromosomal Instability Berlin Breakage Syndrome Breakage Syndrome, Nijmegen |
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| Tree Number |
T9.11.1.17.1 |
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| subClassOf |