[ { "record_id": "doid.0050167", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0050167", "0050167", "mondo:0009411", "0009411", "mim:240300", "240300" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoimmune", "polyendocrine", "syndrome", "type", "autoimmune polyendocrine", "polyendocrine syndrome", "syndrome type", "type 1", "autoimmune polyendocrine syndrome", "polyendocrine syndrome type", "syndrome type 1", "autoimmune polyendocrine syndrome type", "polyendocrine syndrome type 1", "autoimmune polyendocrine syndrome type 1", "autoimmune polyglandular", "polyglandular syndrome", "syndrome i", "autoimmune polyglandular syndrome", "polyglandular syndrome i", "autoimmune polyglandular syndrome i", "whitaker syndrome", "autoimmune polyendocrinopathy", "polyendocrinopathy candidiasis", "candidiasis ectodermal", "ectodermal dystrophy", "autoimmune polyendocrinopathy candidiasis", "polyendocrinopathy candidiasis ectodermal", "candidiasis ectodermal dystrophy", "autoimmune polyendocrinopathy candidiasis ectodermal", "polyendocrinopathy candidiasis ectodermal dystrophy", "autoimmune polyendocrinopathy candidiasis ectodermal dystrophy", "aire autoimmune", "aire autoimmune polyendocrinopathy", "apeced syndrome", "aps type", "aps type 1", "polyglandular syndrome type", "autoimmune polyglandular syndrome type", "polyglandular syndrome type 1", "autoimmune polyglandular syndrome type 1", "medac syndrome", "whitaker syndrom", "autoimmune hypoparathyroidism", "hypoparathyroidism chronic", "chronic candidiasis", "candidiasis addison", "addison disease", "disease syndrome", "autoimmune hypoparathyroidism chronic", "hypoparathyroidism chronic candidiasis", "chronic candidiasis addison", "candidiasis addison disease", "addison disease syndrome", "autoimmune hypoparathyroidism chronic candidiasis", "hypoparathyroidism chronic candidiasis addison", "chronic candidiasis addison disease", "candidiasis addison disease syndrome", "autoimmune hypoparathyroidism chronic candidiasis addison", "hypoparathyroidism chronic candidiasis addison disease", "chronic candidiasis addison disease syndrome", "polyendocrinopathy caused", "caused by", "by mutation", "mutation in", "in aire", "autoimmune polyendocrinopathy caused", "polyendocrinopathy caused by", "caused by mutation", "by mutation in", "mutation in aire", "autoimmune polyendocrinopathy caused by", "polyendocrinopathy caused by mutation", "caused by mutation in", "by mutation in aire", "autoimmune polyendocrinopathy caused by mutation", "polyendocrinopathy caused by mutation in", "caused by mutation in aire", "polyendocrinopathy syndrome", "type i", "with or", "or without", "without reversible", "reversible metaphyseal", "metaphyseal dysplasia", "autoimmune polyendocrinopathy syndrome", "i with", "with or without", "or without reversible", "without reversible metaphyseal", "reversible metaphyseal dysplasia", "type i with", "i with or", "with or without reversible", "or without reversible metaphyseal", "without reversible metaphyseal dysplasia", "polyendocrinopathy syndrome type", "syndrome type i", "type i with or", "i with or without", "with or without reversible metaphyseal", "or without reversible metaphyseal dysplasia", "dystrophy syndrome", "ectodermal dystrophy syndrome", "candidiasis ectodermal dystrophy syndrome", "polyendocrinopathy candidiasis ectodermal dystrophy syndrome", "ham syndrome", "hypoparathyroidism addison", "disease mucocutaneous", "mucocutaneous candidiasis", "candidiasis syndrome", "hypoparathyroidism addison disease", "addison disease mucocutaneous", "disease mucocutaneous candidiasis", "mucocutaneous candidiasis syndrome", "hypoparathyroidism addison disease mucocutaneous", "addison disease mucocutaneous candidiasis", "disease mucocutaneous candidiasis syndrome", "hypoparathyroidism addison disease mucocutaneous candidiasis", "addison disease mucocutaneous candidiasis syndrome", "multiple endocrine", "endocrine deficiency", "deficiency addison", "disease candidiasis", "multiple endocrine deficiency", "endocrine deficiency addison", "deficiency addison disease", "addison disease candidiasis", "disease candidiasis syndrome", "multiple endocrine deficiency addison", "endocrine deficiency addison disease", "deficiency addison disease candidiasis", "addison disease candidiasis syndrome", "multiple endocrine deficiency addison disease", "endocrine deficiency addison disease candidiasis", "deficiency addison disease candidiasis syndrome", "polyglandular autoimmune", "autoimmune syndrome", "polyglandular autoimmune syndrome", "autoimmune syndrome type", "polyglandular autoimmune syndrome type", "autoimmune syndrome type 1", "polyglandular autoimmune syndrome type 1", "aps 1", "pga 1", "polyendocrine syndrome type i", "autoimmune polyendocrinopathy syndrome type", "polyendocrinopathy syndrome type 1", "autoimmune polyendocrinopathy syndrome type 1", "autosomal dominant", "i autosomal", "type i autosomal", "i autosomal dominant", "polyendocrinopathy syndrome type i", "type i autosomal dominant", "polyendocrinopathy type", "autoimmune polyendocrinopathy type", "polyendocrinopathy type 1", "autoimmune polyendocrinopathy type 1", "dystrophy apeced", "ectodermal dystrophy apeced", "candidiasis ectodermal dystrophy apeced", "hypoadrenocorticism with", "with hypoparathyroidism", "hypoparathyroidism and", "and superficial", "superficial moniliasis", "hypoadrenocorticism with hypoparathyroidism", "with hypoparathyroidism and", "hypoparathyroidism and superficial", "and superficial moniliasis", "hypoadrenocorticism with hypoparathyroidism and", "with hypoparathyroidism and superficial", "hypoparathyroidism and superficial moniliasis", "hypoadrenocorticism with hypoparathyroidism and superficial", "with hypoparathyroidism and superficial moniliasis", "polyglandular deficiency", "deficiency syndrome", "persian jewish", "jewish type", "polyglandular deficiency syndrome", "syndrome persian", "persian jewish type", "deficiency syndrome persian", "syndrome persian jewish", "polyglandular deficiency syndrome persian", "deficiency syndrome persian jewish", "syndrome persian jewish type", "syndrome 1", "polyendocrine syndrome 1", "1 with", "autoimmune polyendocrine syndrome 1", "syndrome 1 with", "1 with or", "polyendocrine syndrome 1 with", "syndrome 1 with or", "1 with or without" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "proteins", "phraselist": [ "p01286", "p01286 1", "slib_human", "np_001171660", "ghrh", "ghrf", "grf", "inn", "ghrf grf", "grf inn", "ghrf grf inn", "p01241", "p01241 1", "soma_human", "np_000506", "csh1", "csh2", "gh1", "gh", "ghb5", "ghn", "hgh", "ighd1a", "ighd1b", "ighd2", "gh n", "hgh n", "gh gh", "n ghb5", "ghb5 ghn", "ghn hgh", "n ighd1a", "ighd1a ighd1b", "ighd1b ighd2", "gh gh n", "gh n ghb5", "ghn hgh n", "hgh n ighd1a", "n ghb5 ghn", "ghb5 ghn hgh", "n ighd1a ighd1b", "ighd1a ighd1b ighd2", "hcg_1749481", "o43918", "o43918 1", "aire_human", "np_000374", "aire", "aire1", "apeced", "aps1", "apsi", "pga1", "aire1 apeced", "apeced aps1", "aps1 apsi", "apsi pga1", "aire1 apeced aps1", "apeced aps1 apsi", "aps1 apsi pga1", "a8hg42", "a8hg42 1", "a8hg42_danre", "np_001103484", "glycoprotein", "si:dkey", "261l2.5", "si:dkey 261l2.5", "a0a181", "a0a181 1", "a0a181_danre", "np_001073561", "q1jq34", "q1jq34 1", "q1jq34_danre", "np_001018328", "ghl", "a0ab32u2d2", "a0ab32u2d2 1", "a0ab32u2d2_danre", "smtlb", "slb", "q330l3", "q330l3 1", "q330l3_danre", "np_001032795", "smtla", "sla", "q9z0e3", "q9z0e3 1", "aire_mouse", "np_001258478", "p06880", "p06880 1", "soma_mouse", "np_032143", "ghb1", "gh1 ghb1", "p16043", "p16043 1", "slib_mouse", "np_001316612", "d3zv49", "d3zv49 1", "d3zv49_rat", "np_001421546", "p01244", "p01244 1", "soma_rat", "np_001030020", "rnghgp", "gh ghb1", "ghb1 rnghgp", "gh ghb1 rnghgp", "p09916", "p09916 1", "slib_rat", "np_113765" ] }, { "record_id": "doid.0050167", "record_type": "disease", "section": "proteins", "phraselist": [ "growth hormone", "hormone releasing", "releasing factor", "growth hormone releasing", "hormone releasing factor", "growth hormone releasing factor", "releasing hormone", "hormone releasing hormone", "growth hormone releasing hormone", "somatoliberin isoform", "isoform 2", "2 preproprotein", "somatoliberin isoform 2", "isoform 2 preproprotein", "somatoliberin isoform 2 preproprotein", "somatoliberin sermorelin", "sermorelin somatocrinin", "somatocrinin somatorelin", "somatorelin growth", "somatorelin growth hormone", "somatoliberin sermorelin somatocrinin", "sermorelin somatocrinin somatorelin", "somatocrinin somatorelin growth", "somatorelin growth hormone releasing", "gh n", "hormone 1", "growth hormone 1", "pituitary growth", "pituitary growth hormone", "hormone b5", "hormone somatotropin", "somatotropin growth", "growth hormone b5", "growth hormone somatotropin", "somatotropin growth hormone", "pituitary growth hormone somatotropin", "hormone somatotropin growth", "somatotropin growth hormone b5", "somatotropin isoform", "isoform 1", "1 precursor", "somatotropin isoform 1", "isoform 1 precursor", "somatotropin isoform 1 precursor", "autoimmune regulator", "apeced protein", "autoimmune polyendocrinopathy", "polyendocrinopathy candidiasis", "candidiasis ectodermal", "ectodermal dystrophy", "dystrophy protein", "autoimmune polyendocrinopathy candidiasis", "polyendocrinopathy candidiasis ectodermal", "candidiasis ectodermal dystrophy", "ectodermal dystrophy protein", "autoimmune polyendocrinopathy candidiasis ectodermal", "polyendocrinopathy candidiasis ectodermal dystrophy", "candidiasis ectodermal dystrophy protein", "autoimmune polyendocrinopathy candidiasis ectodermal dystrophy", "polyendocrinopathy candidiasis ectodermal dystrophy protein", "somatoliberin precursor", "somatotropin precursor", "somatolactin beta", "beta isoform", "isoform x1", "somatolactin beta isoform", "beta isoform x1", "somatolactin beta isoform x1", "somatolactin alpha", "alpha precursor", "somatolactin alpha precursor", "protein homolog", "apeced protein homolog", "dystrophy protein homolog", "ectodermal dystrophy protein homolog", "candidiasis ectodermal dystrophy protein homolog", "regulator aire1a", "autoimmune regulator aire1a", "aire1a autoimmune", "homolog apeced", "homolog autoimmune", "regulator autoimmune", "regulator aire1a autoimmune", "aire1a autoimmune polyendocrinopathy", "protein homolog apeced", "homolog apeced protein", "protein homolog autoimmune", "homolog autoimmune regulator", "autoimmune regulator autoimmune", "regulator autoimmune polyendocrinopathy", "autoimmune regulator aire1a autoimmune", "regulator aire1a autoimmune polyendocrinopathy", "aire1a autoimmune polyendocrinopathy candidiasis", "dystrophy protein homolog apeced", "protein homolog apeced protein", "homolog apeced protein homolog", "apeced protein homolog autoimmune", "protein homolog autoimmune regulator", "autoimmune regulator autoimmune polyendocrinopathy", "regulator autoimmune polyendocrinopathy candidiasis", "regulator isoform", "autoimmune regulator isoform", "regulator isoform 2", "autoimmune regulator isoform 2", "hormone b1", "growth hormone b1", "somatotropin growth hormone b1", "somatoliberin preproprotein", "somatoliberin growth", "somatoliberin growth hormone", "somatoliberin growth hormone releasing", "regulator isoform 1", "autoimmune regulator isoform 1", "somatoliberin grf", "grf growth", "grf growth hormone", "somatoliberin grf growth", "grf growth hormone releasing" ] } ]