loading...| Preferred Name |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation |
| Synonyms |
NHEJ1 Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C566970 |
| altLabel |
NHEJ1 Syndrome Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, and Sensitivity to Ionizing Radiation due to NHEJ1 Deficiency |
| cui |
C1969799 |
| HM |
D006130 D016511 D008831 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D008831 |
| MDA |
20121105 |
| MeSH Frequency |
0 |
| notation |
C566970 |
| prefLabel |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation |
| SC |
3 |
| Scope Statement |
mutation in NHEJ1 |
| TERMUI |
T826008 T826009 T826007 T826249 T809500 |
| TH |
OMIM (2013) |
| tui |
T047 |