WormBase Tree Display for DO_term: DOID:0111980
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| DOID:0111980 | Name | immunodeficiency 64 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | IMD64 | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0111965 | |||||
| DB_info | Database | OMIM | disease | 618534 | |
| Attribute_of | Gene_by_orthology | WBGene00009100 |
