Immunodeficiency 64
Disease ID: disease_node_13338
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| Dbxref | MIM:618534 |
|---|---|
| Subclassof | DOID_0111965, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD64 |
| Doid Label | immunodeficiency 64 |
| Doid Description | A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13338 |
| Doid Id | DOID_0111980 |
| Label | Immunodeficiency 64 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from T Cell, B Cell, And Nk Cell Deficiency(ID:disease_node_13337) (Disease)