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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00507 | Dyskeratosis congenita | Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while ... | Ribosomopathy |
(DKCX) DKC1 [HSA:1736] [KO:K11131] (DKCA1) TERC [HSA:7012] [KO:K22183] (DKCA2/B4) TERT [HSA:7015] [KO:K11126] (DKCA3/A5) TINF2 [HSA:26277] [KO:K11112] (DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136] (DKCA6/B7) ACD [HSA:65057] [KO:K11114] (DKCB1) NOP10 [HSA:55505] [KO:K11130] (DKCB2) NHP2 [HSA:55651] [KO:K11129] (DKCB3) WRAP53 [HSA:55135] [KO:K23314] (DKCB6) PARN [HSA:5073] [KO:K01148] (DKCB8) DCLRE1B [HSA:64858] [KO:K15341] (DKCD) TYMS [HSA:7298] [KO:K00560] |
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| H00921 |
Revesz syndrome Dyskeratosis congenita, autosomal dominant 5 Exudative retinopathy with bone marrow failure |
Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation ... | Congenital malformation | TINF2 [HSA:26277] [KO:K11112] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |