[ { "record_id": "doid.0111348", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0111348", "0111348", "mondo:0007562", "0007562", "mim:132450", "132450" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "disease_name", "phraselist": [ "multiple", "epiphyseal", "dysplasia", "with", "myopia", "and", "deafness", "multiple epiphyseal", "epiphyseal dysplasia", "dysplasia with", "with myopia", "myopia and", "and deafness", "multiple epiphyseal dysplasia", "epiphyseal dysplasia with", "dysplasia with myopia", "with myopia and", "myopia and deafness", "multiple epiphyseal dysplasia with", "epiphyseal dysplasia with myopia", "dysplasia with myopia and", "with myopia and deafness", "multiple epiphyseal dysplasia with myopia", "epiphyseal dysplasia with myopia and", "dysplasia with myopia and deafness", "dysplasia myopia", "myopia deafness", "deafness syndrome", "epiphyseal dysplasia myopia", "dysplasia myopia deafness", "myopia deafness syndrome", "multiple epiphyseal dysplasia myopia", "epiphyseal dysplasia myopia deafness", "dysplasia myopia deafness syndrome", "multiple epiphyseal dysplasia myopia deafness", "epiphyseal dysplasia myopia deafness syndrome", "beighton type", "dysplasia beighton", "epiphyseal dysplasia beighton", "dysplasia beighton type", "multiple epiphyseal dysplasia beighton", "epiphyseal dysplasia beighton type", "dysplasia multiple", "multiple with", "epiphyseal dysplasia multiple", "multiple with myopia", "dysplasia multiple with", "multiple with myopia and", "and conductive", "conductive deafness", "myopia and conductive", "and conductive deafness", "with myopia and conductive", "myopia and conductive deafness", "with myopia and conductive deafness", "dysplasia with myopia and conductive" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nvc6", "q9nvc6 1", "med17_human", "np_004259", "glycoprotein", "med17", "arc77", "crsp6", "crsp77", "drip80", "srb4", "trap80", "crsp6 crsp77", "crsp77 drip80", "drip80 srb4", "srb4 trap80", "crsp6 crsp77 drip80", "crsp77 drip80 srb4", "drip80 srb4 trap80", "drip77", "p02458", "p02458 2", "co2a1_human", "np_001835", "col2a1", "acg2", "anfh", "anfh1", "aom", "col11a3", "edmmd", "lcpd", "oscdp", "plsdt", "sedc", "sedstn", "semdstwk", "smdalg", "stl1", "vped", "acg2 anfh", "anfh anfh1", "anfh1 aom", "aom col11a3", "col11a3 edmmd", "edmmd lcpd", "lcpd oscdp", "oscdp plsdt", "plsdt sedc", "sedc sedstn", "sedstn semdstwk", "semdstwk smdalg", "smdalg stl1", "stl1 vped", "acg2 anfh anfh1", "anfh anfh1 aom", "anfh1 aom col11a3", "aom col11a3 edmmd", "col11a3 edmmd lcpd", "edmmd lcpd oscdp", "lcpd oscdp plsdt", "oscdp plsdt sedc", "plsdt sedc sedstn", "sedc sedstn semdstwk", "sedstn semdstwk smdalg", "semdstwk smdalg stl1", "smdalg stl1 vped", "b3dlk0", "b3dlk0 1", "b3dlk0_danre", "xp_005166920", "col2a1a", "coll2a1", "fb38c06", "fc10c01", "wu:fb38c06", "wu:fc10c01", "col2a1 coll2a1", "coll2a1 fb38c06", "fb38c06 fc10c01", "fc10c01 wu:fb38c06", "wu:fb38c06 wu:fc10c01", "col2a1 coll2a1 fb38c06", "coll2a1 fb38c06 fc10c01", "fb38c06 fc10c01 wu:fb38c06", "fc10c01 wu:fb38c06 wu:fc10c01", "l0s5l0", "l0s5l0 1", "l0s5l0_danre", "np_001268407", "col2a1b", "im:6788778", "p28481", "p28481 3", "co2a1_mouse", "np_001106987", "col2", "col2a", "del1", "dmm", "lpk", "m100413", "rgsc413", "rgsc856", "col2a 1", "col2 col2a", "col2a col2a", "1 del1", "del1 dmm", "dmm lpk", "lpk m100413", "m100413 rgsc413", "rgsc413 rgsc856", "col2a col2a 1", "col2a 1 del1", "col2 col2a col2a", "1 del1 dmm", "del1 dmm lpk", "dmm lpk m100413", "lpk m100413 rgsc413", "m100413 rgsc413 rgsc856", "p05539", "p05539 1", "co2a1_rat", "np_037061", "cg2a1a", "collii", "cg2a1a collii", "p53563", "p53563 1", "b2cl1_rat", "np_001028842", "bcl2l1", "bcl", "bcl x", "bclx", "blc2l", "xl", "bcl2l", "bcl xl", "x bcl", "xl bcl2l", "bcl2l bclx", "bcl x bcl", "x bcl xl", "bcl xl bcl2l", "bcl x bcl xl", "xl bcl2l bclx" ] }, { "record_id": "doid.0111348", "record_type": "disease", "section": "proteins", "phraselist": [ "mediator of", "of rna", "rna polymerase", "polymerase ii", "ii transcription", "transcription subunit", "subunit 17", "mediator of rna", "of rna polymerase", "rna polymerase ii", "polymerase ii transcription", "ii transcription subunit", "transcription subunit 17", "mediator of rna polymerase", "of rna polymerase ii", "rna polymerase ii transcription", "polymerase ii transcription subunit", "ii transcription subunit 17", "mediator of rna polymerase ii", "of rna polymerase ii transcription", "rna polymerase ii transcription subunit", "polymerase ii transcription subunit 17", "activator recruited", "recruited cofactor", "cofactor 77", "77 kda", "kda component", "activator recruited cofactor", "recruited cofactor 77", "cofactor 77 kda", "77 kda component", "activator recruited cofactor 77", "recruited cofactor 77 kda", "cofactor 77 kda component", "activator recruited cofactor 77 kda", "recruited cofactor 77 kda component", "crsp complex", "complex subunit", "subunit 6", "crsp complex subunit", "complex subunit 6", "crsp complex subunit 6", "cofactor required", "required for", "for sp1", "sp1 transcriptional", "transcriptional activation", "activation subunit", "cofactor required for", "required for sp1", "for sp1 transcriptional", "sp1 transcriptional activation", "transcriptional activation subunit", "activation subunit 6", "cofactor required for sp1", "required for sp1 transcriptional", "for sp1 transcriptional activation", "sp1 transcriptional activation subunit", "transcriptional activation subunit 6", "cofactor required for sp1 transcriptional", "required for sp1 transcriptional activation", "for sp1 transcriptional activation subunit", "sp1 transcriptional activation subunit 6", "mediator complex", "mediator complex subunit", "complex subunit 17", "mediator complex subunit 17", "thyroid hormone", "hormone receptor", "receptor associated", "associated protein", "protein complex", "complex 80", "80 kda", "thyroid hormone receptor", "hormone receptor associated", "receptor associated protein", "associated protein complex", "protein complex 80", "complex 80 kda", "80 kda component", "thyroid hormone receptor associated", "hormone receptor associated protein", "receptor associated protein complex", "associated protein complex 80", "protein complex 80 kda", "complex 80 kda component", "thyroid hormone receptor associated protein", "hormone receptor associated protein complex", "receptor associated protein complex 80", "associated protein complex 80 kda", "protein complex 80 kda component", "transcriptional coactivator", "coactivator crsp77", "transcriptional coactivator crsp77", "vitamin d3", "d3 receptor", "receptor interacting", "interacting protein", "vitamin d3 receptor", "d3 receptor interacting", "receptor interacting protein", "interacting protein complex", "vitamin d3 receptor interacting", "d3 receptor interacting protein", "receptor interacting protein complex", "interacting protein complex 80", "vitamin d3 receptor interacting protein", "d3 receptor interacting protein complex", "receptor interacting protein complex 80", "interacting protein complex 80 kda", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "6 77kda", "77kda epididymis", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "protein arc77", "arc77 crsp", "6 transcriptional", "crsp77 activator", "component vitamin", "component thyroid", "subunit 6 77kda", "77kda epididymis secretory", "epididymis secretory sperm binding", "secretory sperm binding protein", "binding protein arc77", "arc77 crsp complex", "subunit 6 transcriptional", "6 transcriptional coactivator", "coactivator crsp77 activator", "crsp77 activator recruited", "kda component vitamin", "component vitamin d3", "kda component thyroid", "component thyroid hormone", "6 77kda epididymis", "77kda epididymis secretory sperm", "epididymis secretory sperm binding protein", "sperm binding protein arc77", "protein arc77 crsp", "arc77 crsp complex subunit", "complex subunit 6 transcriptional", "subunit 6 transcriptional coactivator", "6 transcriptional coactivator crsp77", "transcriptional coactivator crsp77 activator", "coactivator crsp77 activator recruited", "crsp77 activator recruited cofactor", "77 kda component vitamin", "kda component vitamin d3", "component vitamin d3 receptor", "80 kda component thyroid", "kda component thyroid hormone", "component thyroid hormone receptor", "collagen alpha", "alpha 1", "1 ii", "collagen alpha 1", "alpha 1 ii", "ii chain", "collagen alpha 1 ii", "1 ii chain", "alpha 1 ii chain", "1 type", "type ii", "ii collagen", "alpha 1 type", "1 type ii", "type ii collagen", "alpha 1 type ii", "1 type ii collagen", "alpha 1 type ii collagen", "collagen ii", "1 polypeptide", "cartilage collagen", "stickler syndrome", "ii alpha", "alpha 1 polypeptide", "polypeptide cartilage", "collagen chondrocalcin", "chondrocalcin collagen", "chain alpha", "collagen arthroophthalmopathy", "arthroophthalmopathy progressive", "progressive stickler", "collagen type", "collagen ii alpha", "ii alpha 1", "1 polypeptide cartilage", "polypeptide cartilage collagen", "cartilage collagen chondrocalcin", "chondrocalcin collagen alpha", "chain alpha 1", "ii collagen arthroophthalmopathy", "progressive stickler syndrome", "syndrome collagen", "collagen type ii", "type ii alpha", "collagen ii alpha 1", "ii alpha 1 polypeptide", "alpha 1 polypeptide cartilage", "1 polypeptide cartilage collagen", "collagen chondrocalcin collagen", "chondrocalcin collagen alpha 1", "ii chain alpha", "chain alpha 1 type", "type ii collagen arthroophthalmopathy", "collagen arthroophthalmopathy progressive", "arthroophthalmopathy progressive stickler", "stickler syndrome collagen", "type ii alpha 1", "chain isoform", "isoform 1", "1 precursor", "chain isoform 1", "isoform 1 precursor", "ii chain isoform", "chain isoform 1 precursor", "1 ii chain isoform", "ii chain isoform 1", "col2a1a protein", "alpha 1a", "ii alpha 1a", "type ii alpha 1a", "1a isoform", "isoform x1", "alpha 1a isoform", "1a isoform x1", "alpha 1a isoform x1", "ii alpha 1a isoform", "alpha 1b", "ii alpha 1b", "collagen type ii alpha", "type ii alpha 1b", "1b precursor", "alpha 1b precursor", "ii alpha 1b precursor", "chondrocalcin alpha", "collagen procollagen", "procollagen type", "chondrocalcin alpha 1", "ii collagen procollagen", "procollagen type ii", "chondrocalcin alpha 1 type", "type ii collagen procollagen", "collagen procollagen type", "isoform 2", "2 precursor", "chain isoform 2", "isoform 2 precursor", "chain isoform 2 precursor", "ii chain isoform 2", "procollagen ii", "enhancer region", "procollagen ii alpha", "1 procollagen", "1 collagen", "ii col2a1", "col2a1 gene", "gene enhancer", "collagen procollagen ii", "procollagen ii alpha 1", "alpha 1 procollagen", "alpha 1 collagen", "1 collagen type", "type ii col2a1", "gene enhancer region", "ii collagen procollagen ii", "collagen procollagen ii alpha", "ii alpha 1 procollagen", "1 procollagen type", "alpha 1 collagen type", "1 collagen type ii", "collagen type ii col2a1", "ii col2a1 gene", "col2a1 gene enhancer", "bcl 2", "2 like", "like protein", "protein 1", "bcl 2 like", "2 like protein", "like protein 1", "bcl 2 like protein", "2 like protein 1", "bcl 2 like protein 1", "apoptosis regulator", "regulator bcl", "bcl x", "apoptosis regulator bcl", "regulator bcl x", "apoptosis regulator bcl x", "bcl2 l", "l 1", "bcl2 l 1", "1 isoform", "protein 1 isoform", "1 isoform 2", "like protein 1 isoform", "protein 1 isoform 2", "2 like protein 1 isoform", "like protein 1 isoform 2", "b cell", "cell lymphoma", "lymphoma like", "like x", "lymphoma 2", "1 b", "b cell lymphoma", "cell lymphoma like", "lymphoma like x", "x bcl2", "1 apoptosis", "x b", "cell lymphoma 2", "lymphoma 2 like", "protein 1 b", "1 b cell", "b cell lymphoma like", "cell lymphoma like x", "like x bcl2", "x bcl2 l", "l 1 apoptosis", "1 apoptosis regulator", "bcl x b", "x b cell", "b cell lymphoma 2", "cell lymphoma 2 like", "like protein 1 b", "protein 1 b cell", "1 b cell lymphoma", "b cell lymphoma like x", "lymphoma like x bcl2", "like x bcl2 l", "x bcl2 l 1", "bcl2 l 1 apoptosis", "l 1 apoptosis regulator", "1 apoptosis regulator bcl", "regulator bcl x b", "bcl x b cell", "x b cell lymphoma", "b cell lymphoma 2 like" ] } ]