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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/601457
http://purl.bioontology.org/ontology/OMIM/601457
|
|---|---|
| Preferred Name | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE |
| Synonyms |
SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
|
|---|---|
| prefLabel | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
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| Gene Symbol | RAG2
|
| notation | 601457
|
| Scope Statement | Caused by mutations in the recombinase activating gene 1 (RAG1, {179615.0001)} [MOLECULAR BASIS]
Caused by mutations in the recombinase activating gene 2 (RAG2, 179616.0001) [MOLECULAR BASIS]
Presents at 2 to 3 months of age [MISCELLANEOUS]
Death within several months if untreated [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| Moved from | 202500
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 11p13
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| tui | T047
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| cui | C1832322
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