Immunodeficiency 31C
Disease ID: disease_node_20017
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:614162, ORDO:391487 |
|---|---|
| Subclassof | DOID_0050736, DOID_612 |
| Data Source | DOID |
| Synonyms | CANDF7, IMD31C, autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome, autosomal dominant chronic mucocutaneous familial candidiasis, autosomal dominant immunodeficiency 31C, familial candidiasis 7 |
| Doid Label | immunodeficiency 31C |
| Doid Description | A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20017 |
| Doid Id | DOID_0111946 |
| Label | Immunodeficiency 31C |
- Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)