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(HPO:0001000) | Abnormality of skin pigmentation | 105 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0012469) | Infantile spasms | 18 / 7739 | ||||
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(OMIM) | Carbohydrate moiety deficiency of secretory glycoproteins, lysosomal enzymes, and probably membrane glycoproteins | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |