Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adenosine deaminase deficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Bubble boy disease | ClinVar | PMID:11133745 more ... | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:11313270, PMID:16276422 | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion more ... | ClinVar | PMID:11133745 more ... | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion more ... | ClinVar | PMID:25741868, PMID:28492532 | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion more ... | ClinVar | PMID:25741868 more ... | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion more ... | ClinVar | PMID:25741868 | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion more ... | ClinVar | PMID:11133745 more ... | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion more ... | ClinVar | PMID:11133745 more ... | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion more ... | ClinVar | PMID:11133745 more ... | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:11121059 more ... | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by OMIM:609889 | ClinVar | PMID:16276422 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:25741868, PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:17075247 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:28492532, PMID:28769923 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:20956421 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11313270 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:16960852 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745, PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:25741868 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:26457731 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:16960852 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:24290284, PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:18463379, PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:17572155 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:21624848 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:25741868 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:10701853 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11313270 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:18442948, PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:26186701, PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:16960852 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11313270 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:24033266 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:21664875, PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:16960852 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:10891452 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11313270 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:17572155 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:24290284 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:16960852, PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:20109747 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11313270 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11313270 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:25739914 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:16960852 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:24290284 more ... | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:15908971, PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:28492532 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by OMIM:233650 | ClinVar | PMID:20489056 | combined cellular and humoral immune defects with granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by OMIM:233650 | ClinVar | PMID:18463379 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:15908971, PMID:28492532 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:17075247 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:16960852 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11121059 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:16960852 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11133745, PMID:28492532 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:25741868 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:20956421 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11121059 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11313270, PMID:16276422 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:10606976 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11121059 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:25741868 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:9630231 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:28492532 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:25741868, PMID:28492532 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11133745 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:24033266 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:26186701, PMID:28492532 | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11133745 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:17572155 more ... | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | | histiocytic sarcoma | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11133745 more ... | intellectual disability | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | microcephaly | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | primary ciliary dyskinesia | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:25741868, PMID:28492532 | primary immunodeficiency disease | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases | ClinVar | PMID:17572155 more ... | primary immunodeficiency disease | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases | ClinVar | PMID:25741868 | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency disease | ClinVar | PMID:11133745 more ... | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar | PMID:11133745 more ... | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar | PMID:11133745 more ... | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency disease | ClinVar | PMID:24290284, PMID:28492532 | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar | PMID:26186701, PMID:28492532 | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar | PMID:28492532 | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency disease | ClinVar | PMID:11133745 more ... | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immunodeficiency | ClinVar | | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar | PMID:25741868, PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar | PMID:11133745 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:20956421 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:16960852 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:11133745 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:16960852 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:25741868 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:25741868, PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative | ClinVar | PMID:17572155 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:25741868 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:24033266 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency more ... | ClinVar | PMID:10891452 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:11133745 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency more ... | ClinVar | | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative | ClinVar | PMID:11313270, PMID:16276422 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency more ... | ClinVar | PMID:11133745, PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:11133745 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative | ClinVar | PMID:8810255 | | |||||||||||||||
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References
References - curated
| 1. | Fang M, etal., Behav Brain Res. 2013 Jan 1;236(1):200-9. doi: 10.1016/j.bbr.2012.09.002. Epub 2012 Sep 8. |
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Additional References at PubMed
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Genomics
