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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00915 |
Tuberous sclerosis complex Bourneville-Pringle disease |
Tuberous sclerosis complex (TSC), also known as Bourneville-Pringle disease, is a rare, slowly progressive genetic disorder characterized by pervasive benign tumors in most organ systems including the ... | Congenital malformation |
(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
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| H01312 | Enteroaggregative Escherichia coli (EAEC) infection | ... small intestine via aggregative adherence fimbriae. The adherent rods resemble stacked bricks and result in shortening of microvilli. Approximately 40% of EAEC strains produce a heat-stable toxin, EAST1. | Bacterial infectious disease | ||
| H01805 |
Tricho-hepato-enteric syndrome Syndromic diarrhea |
... enteropathy presenting with early-onset severe intractable diarrhea and associated with non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific histological ... | Congenital malformation |
(THES1) SKIC3 [HSA:9652] [KO:K12600] (THES2) SKIC2 [HSA:6499] [KO:K12599] |
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| H02655 | Retinal dystrophy and microvillus inclusion disease | Retinal dystrophy and microvillus inclusion disease (RDMVID) is a novel syndrome characterized by early-onset severe retinal dystrophy and hereditary diarrhea. It has been reported that mutations in the ... | Congenital malformation | STX3 [HSA:6809] [KO:K08486] |
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