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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00642 |
Lacrimo-auriculo-dento-digital syndrome LADD syndrome Levy-Hollister syndrome |
Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterized by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness ... | Congenital malformation |
(LADD1) FGFR2 [HSA:2263] [KO:K05093] (LADD2) FGFR3 [HSA:2261] [KO:K05094] (LADD3) FGF10 [HSA:2255] [KO:K04358] |
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| H01097 | Spastic quadriplegic cerebral palsy | ... associated with cognitive, sensorial, and behavioural disturbances. It is thought that a half of idiopathic cerebral palsy cases are caused by genetic factors, such as mutations in GAD1, KANK1, and ADD3. | Nervous system disease |
(CPSQ1) GAD1 [HSA:2571] [KO:K01580] (CPSQ2) KANK1 [HSA:23189] [KO:K22808] (CPSQ3) ADD3 [HSA:120] [KO:K18622] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |