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(HPO:0000202) | Oral cleft | rare [HPO] | 120 / 7739 | |||
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(HPO:0000504) | Abnormality of vision | common [HPO] | 12503095 | IBIS | 22 / 7739 | |
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(HPO:0000528) | Anophthalmia | rare [HPO] | 12503095 | IBIS | 42 / 7739 | |
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(HPO:0000568) | Microphthalmia | hallmark [HPO] | 183 / 7739 | |||
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(HPO:0001360) | Holoprosencephaly | rare [HPO] | 29 / 7739 | |||
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(HPO:0007633) | Bilateral microphthalmos | 13 / 7739 | ||||
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(HPO:0007748) | Irido-fundal coloboma | hallmark [HPO] | 3 / 7739 | |||
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(HPO:0000612) | Iris coloboma | 116 / 7739 | ||||
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(OMIM) | Coloboma, choreoretinal | 1 / 7739 | ||||
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(OMIM) | Coloboma, uveoretinal | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0003829) | Incomplete penetrance | 85 / 7739 |