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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00944 | Dowling-Degos disease | ... appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and antecubital fossa. There may be comedo-like papules on the back and pitted scars on perioral or facial regions. | Skin disease |
(DDD1) KRT5 [HSA:3852] [KO:K07605] (DDD2) POFUT1 [HSA:23509] [KO:K03691] (DDD4) POGLUT1 [HSA:56983] [KO:K13667] |
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| H01561 |
Chiari malformation Arnold-Chiari syndrome |
... syndrome, is a group of syndromes consisting of different kinds of pathologic conditions of the posterior fossa development. They are congenital in most cases, caused by structural defects in the brain spinal ... | Congenital malformation | ||
| H01678 | Dandy-Walker syndrome | Dandy-Walker syndrome (DWS) is a congenital brain malformation, characterized by posterior fossa cyst, cystic dilatation of the fourth ventricle, cerebellar vermis dysgenesis, and an upwardly displaced ... | Congenital malformation |
ZIC1 [HSA:7545] [KO:K09224] ZIC4 [HSA:84107] [KO:K09225] |
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| H01886 | Van den Ende-Gupta syndrome | ... convex nasal ridge everted lower lip, arachnodactyly, camptodactyly, slender ribs, underdeveloped glenoid fossa, and mild bowing of long bones, while growth and development are normal. The pattern of inheritance ... | Congenital malformation | SCARF2 [HSA:91179] [KO:K24319] |
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