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"accession": "DOID:9271",
"name": "ornithine carbamoyltransferase deficiency",
"definition": "[]",
"term_type": "cell line"
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"accession": "DOID:9270",
"name": "alkaptonuria",
"definition": "[]",
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"accession": "DOID:9269",
"name": "maple syrup urine disease",
"definition": "['\"Maple syrup urine disease is a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.\" [URL:http\\\\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease]']",
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"accession": "DOID:9268",
"name": "nonketotic hyperglycinemia",
"definition": "[]",
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"name": "inborn urea cycle disorder",
"definition": "[]",
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"name": "cystinuria",
"definition": "[]",
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"name": "sulfuraminoacidemia",
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"name": "homocystinuria",
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"name": "Congenital cerebellar hypoplasia",
"definition": "[]",
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"name": "colorectal cancer",
"definition": "['A large intestine cancer that is located_in the colon and/or located_in the rectum.', 'Xref MGI.\\nOMIM mapping confirmed by DO. [SN].']",
"term_type": "cell line"
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"accession": "DOID:9252",
"name": "inborn errors of amino acid metabolism",
"definition": "[]",
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"name": "Greig cephalopolysyndactyly syndrome",
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"name": "Alagille syndrome",
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"name": "submandibular gland cancer",
"definition": "[]",
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"accession": "DOID:9169",
"name": "Wiskott-Aldrich syndrome",
"definition": "[]",
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"accession": "DOID:9137",
"name": "neurofibromatosis type 2",
"definition": "[]",
"term_type": "cell line"
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"accession": "DOID:913",
"name": "atrophic muscular disorder",
"definition": "[]",
"term_type": "cell line"
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"accession": "DOID:9119",
"name": "acute myeloid leukemia",
"definition": "['A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.', 'OMIM mapping confirmed by DO. [SN].']",
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"accession": "DOID:906",
"name": "peroxisomal disorder",
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"term_type": "cell line"
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