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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0007504) | Diffuse slow skin atrophy | 1 / 7739 | ||||
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(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(OMIM) | Congenital, slowly progressive perceptive deafness | 1 / 7739 | ||||
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(OMIM) | Localized traumatic blistering | 1 / 7739 | ||||
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(OMIM) | Finger ridge pattern loss | 1 / 7739 | ||||
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(MedDRA:10030995) | Oral mucosal blistering | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |