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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.
acute cerebral gaucher disease
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C531689 |
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HSMN - hereditary sensory and motor neuropathy
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http://purl.obolibrary.org/obo/MONDO_0002316 |
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double inguinal hernia
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C563164 |
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hearing loss, high frequency
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D006316 |
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hearing loss, high-frequency
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D006316 |
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cauda equina intradural extramedullary astrocytoma
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3163 |
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AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)
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20316 |
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caroli disease isolated
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C531647 |
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caroli disease, isolated
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C531647 |
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RBM20 familial isolated dilated cardiomyopathy
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13168 |
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maculopapular cutaneous mastocytosis
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19316 |
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acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
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20316 |
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muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
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13161 |
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muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
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13162 |
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autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1
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13161 |
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