loading...| Preferred Name |
immunodeficiency 14 |
| Synonyms |
senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation IMD14 activated PI3K-delta syndrome PASLI disease APDS |
| Definitions |
A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111936 |
| database_cross_reference |
ORDO:397596 UMLS_CUI:C3714976 SNOMEDCT_US_2022_09_01:711480000 NCI:C176015 OMIM:615513 GARD:11983 MESH:C585640 |
| definition |
A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. |
| has exact synonym |
senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation IMD14 activated PI3K-delta syndrome PASLI disease APDS |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111936 |
| in_subset | |
| label |
immunodeficiency 14 |
| notation |
DOID:0111936 |
| prefLabel |
immunodeficiency 14 |
| subClassOf |