loading...| Preferred Name |
SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION |
| Synonyms |
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION |
| ID |
http://purl.bioontology.org/ontology/OMIM/611291 |
| altLabel |
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY NHEJ1 SYNDROME |
| cui |
C1969799 |
| Gene Locus |
2q35 |
| Gene Symbol |
XLF NHEJ1 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
611291 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C566970 | Medical Subject Headings | CUI | |
| http://purl.bioontology.org/ontology/MESH/C566970 | Medical Subject Headings | LOOM |