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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00872 |
Trismus-pseudocamptodactyly syndrome Hecht-Beals syndrome Dutch-Kentucky syndrome |
Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly ... | Congenital malformation | MYH8 [HSA:4626] [KO:K24220] | |
| H02529 | Bone marrow failure syndrome | Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells. | Hematologic disease |
(BMFS1) SRP72 [HSA:6731] [KO:K03108] (BMFS2) ERCC6L2 [HSA:375748] [KO:K20098] (BMFS3) DNAJC21 [HSA:134218] [KO:K09506] (BMFS4) MYSM1 [HSA:114803] [KO:K11865] (BMFS5) TP53 [HSA:7157] [KO:K04451] (BMFS6) MDM4 [HSA:4194] [KO:K10127] (BMFS7) ADH5 [HSA:128] [KO:K00121] (BMFS8) SLC30A7 [HSA:148867] [KO:K14692] (BMFDMS) DUT [HSA:1854] [KO:K01520] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |