Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618495
http://purl.bioontology.org/ontology/OMIM/618495
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY |
| Synonyms |
IMD63
INTERLEUKIN 2 RECEPTOR, BETA, DEFICIENCY OF
CD122 DEFICIENCY
IL2RB DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
IMD63
INTERLEUKIN 2 RECEPTOR, BETA, DEFICIENCY OF
CD122 DEFICIENCY
IL2RB DEFICIENCY
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
|
| Gene Symbol |
IMD63
IL2RB
|
| Scope Statement | Patients may die in childhood [MISCELLANEOUS]
Onset in utero or infancy [MISCELLANEOUS]
Caused by mutation in the interleukin 2 receptor, beta gene (IL2RB, 146710.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 22q11.2-q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618495
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193126
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |