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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01904 |
Microphthalmia with linear skin defects syndrome Linear skin defects with multiple congenital anomalies MIDAS syndrome |
... seizures, and cardiac anomalies. The clinical manifestations vary among affected individuals. Mutations in HCCS, COX7B, and NDUFB11, that encode crucial components of the mitochondrial respiratory chain (MRC) ... | Congenital malformation |
(LSDMCA1) HCCS [HSA:3052] [KO:K01764] (LSDMCA2) COX7B [HSA:1349] [KO:K02271] (LSDMCA3) NDUFB11 [HSA:54539] [KO:K11351] |
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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] [KO:K23092] (MCOPS15) TENM3 [HSA:55714] [KO:K24473] (MCOPS16) RAX [HSA:30062] [KO:K09332] |
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