Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/615577
http://purl.bioontology.org/ontology/OMIM/615577
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY, COMMON VARIABLE, 10 |
| Synonyms |
CVID10
DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY
IMMUNODEFICIENCY, COMMON VARIABLE, WITH CENTRAL ADRENAL INSUFFICIENCY
DAVID
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CVID10
DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY
IMMUNODEFICIENCY, COMMON VARIABLE, WITH CENTRAL ADRENAL INSUFFICIENCY
DAVID
|
|---|---|
| prefLabel | IMMUNODEFICIENCY, COMMON VARIABLE, 10
|
| Gene Symbol |
NFKB2
LYT10
CVID10
|
| notation | 615577
|
| Scope Statement | Variable manifestations [MISCELLANEOUS]
Caused by mutation in the nuclear factor kappa-beta, subunit 2 gene (NFKB2, 164012.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Onset in childhood [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 10q24
|
| tui | T047
|
| cui | C3809991
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |