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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0002655) | Spondyloepiphyseal dysplasia | 21 / 7739 | ||||
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(HPO:0007809) | Punctate corneal dystrophy | 2 / 7739 | ||||
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(OMIM) | No loss of vision | 1 / 7739 | ||||
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(OMIM) | Marked disorganization of dermal collagen fibrils by EM | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |