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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615513
http://purl.bioontology.org/ontology/OMIM/615513
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT |
| Synonyms |
APDS1
IMD14A
p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY
PASLI
ACTIVATED PI3K-DELTA SYNDROME 1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
APDS1
IMD14A
p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY
PASLI
ACTIVATED PI3K-DELTA SYNDROME 1
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT
|
| Gene Symbol |
PIK3CD
IMD14A
APDS
IMD14B
ROCHIS
|
| Scope Statement | Caused by mutation in the phosphatidylinositol 3-kinase, catalytic subunit delta gene (PIK3CD, 602839.0001) [MOLECULAR BASIS]
Onset in infancy or early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p36.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615513
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C3714976
C5907821
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |