[ { "record_id": "doid.0080697", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0080697", "0080697", "mondo:0010222", "0010222", "mim:300000", "300000" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "disease_name", "phraselist": [ "opitz", "gbbb", "syndrome", "opitz gbbb", "gbbb syndrome", "opitz gbbb syndrome", "opitz g/bbb", "g/bbb syndrome", "opitz g/bbb syndrome", "syndrome type", "type i", "gbbb syndrome type", "syndrome type i", "opitz gbbb syndrome type", "gbbb syndrome type i", "opitz gbbb syndrome type i", "x linked", "linked opitz", "x linked opitz", "linked opitz g/bbb", "x linked opitz g/bbb", "linked opitz g/bbb syndrome", "x linked opitz g/bbb syndrome", "syndrome x", "g/bbb syndrome x", "syndrome x linked", "opitz g/bbb syndrome x", "g/bbb syndrome x linked", "linked recessive", "i x", "x linked recessive", "type i x", "i x linked", "type i x linked", "i x linked recessive", "opitz bbb/g", "bbb/g syndrome", "linked opitz bbb/g", "opitz bbb/g syndrome", "x linked opitz bbb/g", "linked opitz bbb/g syndrome", "x linked opitz bbb/g syndrome", "opitz syndrome", "linked opitz syndrome", "x linked opitz syndrome", "opitz bbbg", "bbbg syndrome", "type 1", "opitz bbbg syndrome", "bbbg syndrome type", "syndrome type 1", "opitz bbbg syndrome type", "bbbg syndrome type 1", "gbbb syndrome x", "opitz gbbb syndrome x", "gbbb syndrome x linked", "gbbb syndrome type 1", "opitz syndrome x", "opitz syndrome x linked", "opitz g", "g syndrome", "opitz g syndrome", "g syndrome type", "opitz g syndrome type", "g syndrome type 1", "hypertelorism with", "with esophageal", "esophageal abnormality", "abnormality and", "and hypospadias", "hypertelorism with esophageal", "with esophageal abnormality", "esophageal abnormality and", "abnormality and hypospadias", "hypertelorism with esophageal abnormality", "with esophageal abnormality and", "esophageal abnormality and hypospadias", "hypertelorism with esophageal abnormality and", "with esophageal abnormality and hypospadias", "hypertelorism hypospadias", "hypospadias syndrome", "hypertelorism hypospadias syndrome", "telecanthus hypospadias", "telecanthus hypospadias syndrome" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "proteins", "phraselist": [ "m9mri4", "m9mri4 1", "trim9_drome", "np_001188786", "trim9", "cg31721", "asap", "cg13145", "cg6256", "dmel\\cg31721", "dtrim9", "asap asap", "asap cg13145", "cg13145 cg31721", "cg31721 cg31721", "cg31721 cg6256", "cg6256 dmel\\cg31721", "dmel\\cg31721 dtrim9", "dtrim9 trim9", "asap asap cg13145", "asap cg13145 cg31721", "cg13145 cg31721 cg31721", "cg31721 cg31721 cg6256", "cg31721 cg6256 dmel\\cg31721", "cg6256 dmel\\cg31721 dtrim9", "dmel\\cg31721 dtrim9 trim9", "p24462", "p24462 1", "cp3a7_human", "np_000756", "glycoprotein", "cyp3a7", "cp37", "cypiiia7", "450", "hfl33", "450111a7", "p450", "hfla", "p450hlp2", "p 450", "450 hfl33", "p 450111a7", "p450 hfla", "cp37 cypiiia7", "cypiiia7 p", "p 450 hfl33", "450111a7 p450", "hfla p450hlp2", "cypiiia7 p 450", "hfl33 p", "p 450111a7 p450", "450111a7 p450 hfla", "p450 hfla p450hlp2", "cp37 cypiiia7 p", "cypiiia7 p 450 hfl33", "450 hfl33 p", "hfl33 p 450111a7", "p 450111a7 p450 hfla", "q6zta4", "q6zta4 3", "tri67_human", "np_001004342", "trim67", "tnl", "q9c026", "q9c026 1", "trim9_human", "np_055978", "kiaa0282", "rnf91", "spring", "rnf91 spring", "o15344", "o15344 1", "tri18_human", "np_000372", "mid1", "bbbg1", "fxy", "gbbb", "gbbb1", "midin", "ogs1", "os", "osx", "rnf59", "trim18", "xprf", "znfxy", "bbbg1 fxy", "fxy gbbb", "gbbb gbbb1", "gbbb1 midin", "midin ogs1", "ogs1 os", "os osx", "osx rnf59", "rnf59 trim18", "trim18 xprf", "xprf znfxy", "bbbg1 fxy gbbb", "fxy gbbb gbbb1", "gbbb gbbb1 midin", "gbbb1 midin ogs1", "midin ogs1 os", "ogs1 os osx", "os osx rnf59", "osx rnf59 trim18", "rnf59 trim18 xprf", "trim18 xprf znfxy", "a0a8m3awb4", "a0a8m3awb4 1", "a0a8m3awb4_danre", "xp_002663478", "a0a8m2b3c6", "a0a8m2b3c6 1", "a0a8m2b3c6_danre", "xp_005157040", "fj48c11", "wu:fj48c11", "zgc:77357", "fj48c11 wu:fj48c11", "wu:fj48c11 zgc:77357", "fj48c11 wu:fj48c11 zgc:77357", "o70583", "o70583 1", "tri18_mouse", "np_001277433", "61b3", "dxhxs1141", "61b3 r", "r dxhxs1141", "dxhxs1141 fxy", "fxy trim18", "61b3 r dxhxs1141", "r dxhxs1141 fxy", "dxhxs1141 fxy trim18", "q8c7m3", "q8c7m3 1", "trim9_mouse", "np_001103672", "q505d9", "q505d9 1", "tri67_mouse", "np_941034", "d130049o21rik", "d130049o21rik tnl", "p82458", "p82458 1", "tri18_rat", "np_075216", "midline1", "fxy midline1", "q91zy8", "q91zy8 1", "trim9_rat", "np_569104", "d3ztx1", "d3ztx1 1", "d3ztx1_rat", "np_001129187", "rgd1560667" ] }, { "record_id": "doid.0080697", "record_type": "disease", "section": "proteins", "phraselist": [ "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase trim9", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase trim9", "e3 ubiquitin protein ligase", "ubiquitin protein ligase trim9", "e3 ubiquitin protein ligase trim9", "anomalies in", "in sensory", "sensory axon", "axon patterning", "patterning protein", "anomalies in sensory", "in sensory axon", "sensory axon patterning", "axon patterning protein", "anomalies in sensory axon", "in sensory axon patterning", "sensory axon patterning protein", "anomalies in sensory axon patterning", "in sensory axon patterning protein", "cg31721 pb", "trim9 pb", "pb trim9", "pb anomalies", "cg31721 pb trim9", "pb trim9 pb", "trim9 pb anomalies", "pb anomalies in", "cg31721 pb trim9 pb", "trim9 pb anomalies in", "pb anomalies in sensory", "ring type", "type e3", "ubiquitin transferase", "transferase trim9", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase trim9", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase trim9", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase trim9", "tripartite motif", "motif containing", "containing protein", "protein 9", "tripartite motif containing", "motif containing protein", "containing protein 9", "tripartite motif containing protein", "motif containing protein 9", "tripartite motif containing protein 9", "containing 9", "isoform b", "motif containing 9", "9 isoform", "tripartite motif containing 9", "containing 9 isoform", "9 isoform b", "motif containing 9 isoform", "containing 9 isoform b", "cytochrome p450", "p450 3a7", "cytochrome p450 3a7", "p450 hfla", "cytochrome p450 hfla", "aryl hydrocarbon", "hydrocarbon hydroxylase", "microsomal monooxygenase", "xenobiotic monooxygenase", "flavoprotein linked", "linked monooxygenase", "subfamily iiia", "polypeptide 7", "family 3", "subfamily a", "aryl hydrocarbon hydroxylase", "hydroxylase microsomal", "monooxygenase xenobiotic", "monooxygenase flavoprotein", "flavoprotein linked monooxygenase", "monooxygenase cytochrome", "p450 subfamily", "iiia polypeptide", "7 cytochrome", "hfla cytochrome", "p450 family", "3 subfamily", "a polypeptide", "hydrocarbon hydroxylase microsomal", "hydroxylase microsomal monooxygenase", "microsomal monooxygenase xenobiotic", "monooxygenase xenobiotic monooxygenase", "xenobiotic monooxygenase flavoprotein", "monooxygenase flavoprotein linked", "linked monooxygenase cytochrome", "monooxygenase cytochrome p450", "cytochrome p450 subfamily", "p450 subfamily iiia", "subfamily iiia polypeptide", "iiia polypeptide 7", "polypeptide 7 cytochrome", "7 cytochrome p450", "p450 hfla cytochrome", "hfla cytochrome p450", "cytochrome p450 family", "p450 family 3", "family 3 subfamily", "3 subfamily a", "subfamily a polypeptide", "a polypeptide 7", "aryl hydrocarbon hydroxylase microsomal", "hydrocarbon hydroxylase microsomal monooxygenase", "microsomal monooxygenase xenobiotic monooxygenase", "xenobiotic monooxygenase flavoprotein linked", "monooxygenase flavoprotein linked monooxygenase", "flavoprotein linked monooxygenase cytochrome", "linked monooxygenase cytochrome p450", "cytochrome p450 subfamily iiia", "subfamily iiia polypeptide 7", "polypeptide 7 cytochrome p450", "7 cytochrome p450 hfla", "cytochrome p450 hfla cytochrome", "p450 hfla cytochrome p450", "cytochrome p450 family 3", "family 3 subfamily a", "subfamily a polypeptide 7", "protein 67", "containing protein 67", "motif containing protein 67", "tripartite motif containing protein 67", "trim9 like", "like protein", "protein tnl", "trim9 like protein", "like protein tnl", "tnl tripartite", "trim9 like protein tnl", "protein tnl tripartite", "tnl tripartite motif", "like protein tnl tripartite", "protein tnl tripartite motif", "tnl tripartite motif containing", "67 isoform", "isoform 1", "protein 67 isoform", "67 isoform 1", "containing protein 67 isoform", "protein 67 isoform 1", "motif containing protein 67 isoform", "containing protein 67 isoform 1", "trim9 isoform", "ligase trim9 isoform", "trim9 isoform 1", "protein ligase trim9 isoform", "ligase trim9 isoform 1", "ubiquitin protein ligase trim9 isoform", "protein ligase trim9 isoform 1", "ring finger", "finger protein", "protein 91", "ring finger protein", "finger protein 91", "ring finger protein 91", "homolog of", "of rat", "rat ring", "finger spring", "snap 25", "25 interacting", "interacting ring", "homolog of rat", "of rat ring", "rat ring finger", "ring finger spring", "spring tripartite", "9 e3", "trim9 ring", "91 ring", "trim9 snap", "snap 25 interacting", "25 interacting ring", "interacting ring finger", "homolog of rat ring", "of rat ring finger", "rat ring finger spring", "finger spring tripartite", "spring tripartite motif", "protein 9 e3", "9 e3 ubiquitin", "ligase trim9 ring", "trim9 ring finger", "protein 91 ring", "91 ring type", "transferase trim9 snap", "trim9 snap 25", "snap 25 interacting ring", "25 interacting ring finger", "interacting ring finger protein", "homolog of rat ring finger", "of rat ring finger spring", "ring finger spring tripartite", "finger spring tripartite motif", "spring tripartite motif containing", "containing protein 9 e3", "protein 9 e3 ubiquitin", "9 e3 ubiquitin protein", "protein ligase trim9 ring", "ligase trim9 ring finger", "trim9 ring finger protein", "finger protein 91 ring", "protein 91 ring type", "91 ring type e3", "ubiquitin transferase trim9 snap", "transferase trim9 snap 25", "trim9 snap 25 interacting", "snap 25 interacting ring finger", "25 interacting ring finger protein", "ligase midline", "midline 1", "protein ligase midline", "ligase midline 1", "ubiquitin protein ligase midline", "protein ligase midline 1", "e3 ubiquitin protein ligase midline", "ubiquitin protein ligase midline 1", "1 isoform", "midline 1 isoform", "1 isoform 1", "ligase midline 1 isoform", "midline 1 isoform 1", "protein ligase midline 1 isoform", "ligase midline 1 isoform 1", "putative transcription", "transcription factor", "factor xprf", "putative transcription factor", "transcription factor xprf", "putative transcription factor xprf", "protein 59", "finger protein 59", "ring finger protein 59", "protein midline", "finger protein midline", "protein midline 1", "ring finger protein midline", "finger protein midline 1", "ring finger protein midline 1", "transferase midline", "ubiquitin transferase midline", "transferase midline 1", "e3 ubiquitin transferase midline", "ubiquitin transferase midline 1", "type e3 ubiquitin transferase midline", "e3 ubiquitin transferase midline 1", "protein 18", "containing protein 18", "motif containing protein 18", "tripartite motif containing protein 18", "motif protein", "protein trim18", "zinc finger", "finger on", "on x", "x and", "and y", "1 ring", "opitz/bbb syndrome", "xprf tripartite", "tripartite motif protein", "motif protein trim18", "trim18 zinc", "zinc finger on", "finger on x", "on x and", "x and y", "y mouse", "mouse homolog", "of tripartite", "18 ring", "59 midline", "midline 1 ring", "1 ring finger", "protein ring", "1 e3", "1 opitz/bbb", "syndrome ring", "factor xprf tripartite", "xprf tripartite motif", "tripartite motif protein trim18", "protein trim18 zinc", "trim18 zinc finger", "zinc finger on x", "finger on x and", "on x and y", "and y mouse", "mouse homolog of", "homolog of tripartite", "of tripartite motif", "protein 18 ring", "18 ring finger", "protein 59 midline", "59 midline 1", "midline 1 ring finger", "1 ring finger protein", "finger protein ring", "protein ring finger", "midline 1 e3", "1 e3 ubiquitin", "midline 1 opitz/bbb", "1 opitz/bbb syndrome", "opitz/bbb syndrome ring", "syndrome ring type", "transcription factor xprf tripartite", "factor xprf tripartite motif", "xprf tripartite motif protein", "motif protein trim18 zinc", "protein trim18 zinc finger", "trim18 zinc finger on", "zinc finger on x and", "finger on x and y", "x and y mouse", "y mouse homolog", "homolog of tripartite motif", "of tripartite motif containing", "containing protein 18 ring", "protein 18 ring finger", "18 ring finger protein", "finger protein 59 midline", "protein 59 midline 1", "59 midline 1 ring", "midline 1 ring finger protein", "ring finger protein ring", "finger protein ring finger", "protein ring finger protein", "protein midline 1 e3", "midline 1 e3 ubiquitin", "1 e3 ubiquitin protein", "ligase midline 1 opitz/bbb", "midline 1 opitz/bbb syndrome", "opitz/bbb syndrome ring type", "syndrome ring type e3", "isoform x1", "1 isoform x1", "midline 1 isoform x1", "ligase midline 1 isoform x1", "trim9 isoform x1", "ligase trim9 isoform x1", "protein ligase trim9 isoform x1", "isoform 2", "1 isoform 2", "midline 1 isoform 2", "ligase midline 1 isoform 2", "midin tripartite", "midin tripartite motif", "1 ring type", "midin tripartite motif containing", "ligase midline 1 ring", "midline 1 ring type", "1 ring type e3", "trim9 isoform 2", "ligase trim9 isoform 2", "protein ligase trim9 isoform 2", "trim9 ring type", "ligase trim9 ring type", "trim9 ring type e3", "in rat", "rat only", "only on", "18 finger", "y in", "in rat only", "rat only on", "only on x", "1 midline", "protein 18 finger", "18 finger on", "and y in", "y in rat", "in rat only on", "rat only on x", "x ring", "midline 1 midline", "1 midline 1", "containing protein 18 finger", "protein 18 finger on", "18 finger on x", "x and y in", "and y in rat", "y in rat only", "in rat only on x", "on x ring", "x ring finger", "ligase midline 1 midline", "midline 1 midline 1", "protein tripartite", "motif protein 9", "9 spring", "spring ring", "ligase trim9 snap", "finger protein tripartite", "protein tripartite motif", "tripartite motif protein 9", "protein 9 spring", "spring ring type", "protein ligase trim9 snap", "ligase trim9 snap 25", "ring finger protein tripartite", "finger protein tripartite motif", "protein tripartite motif protein", "motif protein 9 spring", "9 spring ring", "spring ring type e3" ] } ]