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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]
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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