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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/608971
http://purl.bioontology.org/ontology/OMIM/608971
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 104, SEVERE COMBINED |
| Synonyms |
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
IMD104
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
IMD104
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 104, SEVERE COMBINED
|
| Gene Symbol |
IL7R
IMD104
IL7RA
CD127
|
| Scope Statement | Onset in early infancy [MISCELLANEOUS]
Caused by mutation in the interleukin 7 receptor gene (IL7R, 146661.0003) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
Incomplete penetrance (in some families) [MISCELLANEOUS]
Variable expressivity (in some families) [MISCELLANEOUS]
Hematopoietic bone marrow transplant may be curative [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 608971
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5676890
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |