loading...| Preferred Name |
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION |
|
| Synonyms |
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/602450 |
|
| altLabel |
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL RS-SCID SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY SCIDA |
|
| cui |
C1865373 C1865370 C1865371 |
|
| Gene Locus |
10p |
|
| Gene Symbol |
DCLRE1C SCIDA ARTEMIS |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU005464 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU005462 http://purl.bioontology.org/ontology/OMIM/MTHU002638 http://purl.bioontology.org/ontology/OMIM/MTHU005465 http://purl.bioontology.org/ontology/OMIM/MTHU023338 http://purl.bioontology.org/ontology/OMIM/MTHU005461 http://purl.bioontology.org/ontology/OMIM/MTHU005467 http://purl.bioontology.org/ontology/OMIM/MTHU005466 http://purl.bioontology.org/ontology/OMIM/MTHU005469 http://purl.bioontology.org/ontology/OMIM/MTHU000081 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
602450 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION |
|
| Scope Statement |
Some patients may present with isolated antibody deficiency [MISCELLANEOUS] Onset in early childhood [MISCELLANEOUS] Variable phenotype [MISCELLANEOUS] Caused by mutation in the DNA cross-link repair protein 1C (DCLRE1C, 605988.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |