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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00086 | Hyper IgM syndromes, autosomal recessive type | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... | Immune system disease |
(HIGM1) CD40LG [HSA:959] [KO:K03161] (HIGM2) AICDA [HSA:57379] [KO:K10989] (HIGM3) CD40 [HSA:958] [KO:K03160] (HIGM5) UNG [HSA:7374] [KO:K03648] |
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| H00917 | Congenital dyserythropoietic anemia | Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid ... | Hematologic disease |
(CDAIA) CDAN1 [HSA:146059] [KO:K19531] (CDAIB) CDIN1 [HSA:84529] [KO:K24865] (CDAII) SEC23B [HSA:10483] [KO:K14006] (CDAIIIA) KIF23 [HSA:9493] [KO:K17387] (CDAIIIB) RACGAP1 [HSA:29127] [KO:K16733] (CDAIV) KLF1 [HSA:10661] [KO:K09204] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |