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| created at |
2021-12-22 03:08:20 UTC |
| updated at |
2021-12-22 07:06:09 UTC |
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MONDO_bioport_pref_name
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183,974 entries
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There is 0 pattern entry.
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type II alpha-Mannosidosis
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C565418 |
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infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase hyperuricemia
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C565489 |
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hypohidrosis with abnormal palmar dermal ridges
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C565481 |
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antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis lymphopenic hypergammaglobulinemia
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C565427 |
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split hairs, and amino aciduria ichthyosis
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C565471 |
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Ascaris lumbricoides caused disease or disorder
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5654 |
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KPC with associated malformations
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C565455 |
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keratoconus posticus circumscriptus with associated malformations
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C565455 |
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congenital anterior cervical, with peripheral sensory and motor neuropathy hypertrichosis
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C565492 |
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pseudoarylsulfatase a deficiency
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C565403 |
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immunodeficiency, partial combined, with absence of HLA determinants and beta-2-microglobulin from lymphocytes
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C565468 |
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congenital, with central diabetes insipidus hypopituitarism
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C565477 |
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idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
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15654 |
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combined congenital deficiency of intrinsic factor and r binder
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C565461 |
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autosomal recessive congenital analgesia
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C565467 |
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