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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00551 | Alagille syndrome | ... including pulmonic stenosis/ peripheral pulmonary stenosis and tetralogy of Fallot. Affected individuals show typical facies and abnormal butterfly vertebrae as well. Mutations in the Notch pathway cause ALGS. | Congenital malformation |
(ALGS1) JAG1 [HSA:182] [KO:K06052] (ALGS2) NOTCH2 [HSA:4853] [KO:K20994] |
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| H01890 |
Pattern dystrophies of the retinal pigment epithelium Patterned macular dystrophy Butterfly-shaped macular dystrophy |
Patterned macular dystrophy (MDPT) represent a group of autosomal dominant heterogeneous disorders characterized by the development of a variety of patterns of yellow-orange-grayish pigment deposition ... | Nervous system disease |
(MDPT1) PRPH2 [HSA:5961] [KO:K17343] (MDPT2) CTNNA1 [HSA:1495] [KO:K05691] (MDPT3) MAPKAPK3 [HSA:7867] [KO:K04444] |
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| H02487 | Diencephalic-mesencephalic junction dysplasia syndrome | ... (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial sections on MRI. Patients displayed severe cognitive impairment ... | Congenital malformation |
(DMJDS1) PCDH12 [HSA:51294] [KO:K16499] (DMJDS2) GSX2 [HSA:170825] [KO:K09310] |
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