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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00516 | Cleft lip and/or cleft palate | Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies. These clefts are one of the most common congenital malformations that can arise as part of a syndrome ... | Congenital malformation |
(OFC5) MSX1 [HSA:4487] [KO:K09341] (OFC6) IRF6 [HSA:3664] [KO:K10154] (OFC7) NECTIN1 [HSA:5818] [KO:K06081] (OFC8/RHS) TP63 [HSA:8626] [KO:K10149] (OFC10) SUMO1 [HSA:7341] [KO:K12160] (OFC11) BMP4 [HSA:652] [KO:K04662] (OFC15) DLX4 [HSA:1748] [KO:K09314] |
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| H02170 | Microphthalmia, syndromic | Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal ... | Congenital malformation |
(MCOPS1) NAA10 [HSA:8260] [KO:K20791] (MCOPS2) BCOR [HSA:54880] [KO:K23215] (MCOPS3) SOX2 [HSA:6657] [KO:K16796] (MCOPS5) OTX2 [HSA:5015] [KO:K18490] (MCOPS6) BMP4 [HSA:652] [KO:K04662] (MCOPS7) HCCS [HSA:3052] [KO:K01764] (MCOPS9) STRA6 [HSA:64220] [KO:K23088] (MCOPS11) VAX1 [HSA:11023] [KO:K09318] (MCOPS12) RARB [HSA:5915] [KO:K08528] (MCOPS13) HMGB3 [HSA:3149] [KO:K11296] (MCOPS14) MAB21L2 [HSA:10586] (MCOPS15) TENM3 [HSA:55714] [KO:K24473] (MCOPS16) RAX [HSA:30062] [KO:K09332] |
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