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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00551 | Alagille syndrome | Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and ... | Congenital malformation |
(ALGS1) JAG1 [HSA:182] [KO:K06052] (ALGS2) NOTCH2 [HSA:4853] [KO:K20994] |
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| H00623 | Hajdu-Cheney syndrome | Hajdu-Cheney syndrome (HJCYS) is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull ... | Musculoskeletal disease | NOTCH2 [HSA:4853] [KO:K20994] | |
| H01577 | Essential tremor | Essential tremor (ET) is a neurological disorder that is considered to be one of the most common adult-onset movement disorders. ET is typically characterized by rhythmic, involuntary shaking of one or ... | Nervous system disease |
(ETM1) DRD3 [HSA:1814] [KO:K04146] (ETM4) FUS [HSA:2521] [KO:K13098] (ETM5) TENM4 [HSA:26011] [KO:K24473] (ETM6) NOTCH2NLC [HSA:100996717] [KO:K24466] |
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| H02513 | Oculopharyngodistal myopathy | Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and ... | Musculoskeletal disease |
(OPDM1) LRP12 [HSA:29967] [KO:K20050] (OPDM2) GIPC1 [HSA:10755] [KO:K20056] (OPDM3) NOTCH2NLC [HSA:100996717] [KO:K24466] (OPDM4) RILPL1 [HSA:353116] [KO:K20173] |
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