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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00636 | Tetra-amelia syndrome | ... have other anomalies involving the face, eyes, heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia. Recently, it has been reported that RSPO2 mutations cause ... | Congenital malformation |
(TETAMS1) WNT3 [HSA:7473] [KO:K00312] (TETAMS2) RSPO2 [HSA:340419] [KO:K23097] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |