Immunodeficiency 38
Disease ID: disease_node_20451
Connections displayed (default: 10).
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| Dbxref | MIM:616126, ORDO:319563 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | IMD38, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, autosomal recessive ISG15 deficiency, immunodeficiency 38 with basal ganglia calcification, immunodeficiency 38, mycobacteriosis, autosomal recessive |
| Doid Label | immunodeficiency 38 |
| Doid Description | A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20451 |
| Doid Id | DOID_0111934 |
| Label | Immunodeficiency 38 |
- Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)