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"metaphyseal chondrodysplasia retinitis pigmentosa", "chondrodysplasia retinitis pigmentosa syndrome", "metaphyseal chondrodysplasia retinitis pigmentosa syndrome", "rpska", "with", "or", "without", "skeletal", "anomalies", "pigmentosa with", "with or", "or without", "without skeletal", "skeletal anomalies", "retinitis pigmentosa with", "pigmentosa with or", "with or without", "or without skeletal", "without skeletal anomalies", "retinitis pigmentosa with or", "pigmentosa with or without", "with or without skeletal", "or without skeletal anomalies", "retinitis pigmentosa with or without", "pigmentosa with or without skeletal", "with or without skeletal anomalies" ] }, { "record_id": "MONDO:0009598", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009598", "record_type": "disease", "section": "proteins", "phraselist": [ "q6ux04", "q6ux04 1", "cwc27_human", 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"isoform", "tbx15 isoform", "isoform 1", "factor tbx15 isoform", "tbx15 isoform 1", "transcription factor tbx15 isoform", "factor tbx15 isoform 1", "box transcription factor tbx15 isoform", "transcription factor tbx15 isoform 1" ] }, { "record_id": "MONDO:0009864", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0009864", "0009864", "mim:261650", "261650" ] }, { "record_id": "MONDO:0009864", "record_type": "disease", "section": "disease_name", "phraselist": [ "phosphoenolpyruvate", "carboxykinase", "deficiency", "mitochondrial", "phosphoenolpyruvate carboxykinase", "carboxykinase deficiency", "phosphoenolpyruvate carboxykinase deficiency", "deficiency mitochondrial", "carboxykinase deficiency mitochondrial", "phosphoenolpyruvate carboxykinase deficiency mitochondrial", "pepck", "pepck deficiency", "pepck deficiency mitochondrial", "pckdm", "pepck 2", "2 deficiency", "pepck 2 deficiency", "pepck2", "carboxykinase 2", "phosphoenolpyruvate carboxykinase 2", 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"0009865", "mim:261670", "261670" ] }, { "record_id": "MONDO:0009865", "record_type": "disease", "section": "disease_name", "phraselist": [ "glycogen", "storage", "disease", "due", "to", "phosphoglycerate", "mutase", "deficiency", "glycogen storage", "storage disease", "disease due", "due to", "to phosphoglycerate", "phosphoglycerate mutase", "mutase deficiency", "glycogen storage disease", "storage disease due", "disease due to", "due to phosphoglycerate", "to phosphoglycerate mutase", "phosphoglycerate mutase deficiency", "glycogen storage disease due", "storage disease due to", "disease due to phosphoglycerate", "due to phosphoglycerate mutase", "to phosphoglycerate mutase deficiency", "glycogen storage disease due to", "storage disease due to phosphoglycerate", "disease due to phosphoglycerate mutase", "due to phosphoglycerate mutase deficiency", "gsd", "gsd due", "gsd due to", "gsd due to phosphoglycerate", "gsd due to phosphoglycerate mutase", "type", "10", "gsd type", "type 10", 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{ "record_id": "MONDO:0009871", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009871", "record_type": "disease", "section": "proteins", "phraselist": [ "q6mzm0", "q6mzm0 1", "hphl1_human", "np_001092142", "glycoprotein", "hephl1", "hjdd", "zp" ] }, { "record_id": "MONDO:0009871", "record_type": "disease", "section": "proteins", "phraselist": [ "ferroxidase", "hephl1", "ferroxidase hephl1", "1.16.3.1", "hephaestin", "like", "protein", "hephaestin like", "like protein", "protein 1", "hephaestin like protein", "like protein 1", "hephaestin like protein 1", "precursor", "hephl1 precursor", "ferroxidase hephl1 precursor", "zyklopen" ] }, { "record_id": "MONDO:0009874", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0009874", "0009874", "mim:262190", "262190" ] }, { "record_id": "MONDO:0009874", "record_type": "disease", "section": 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"MONDO:0009879", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0009879", "0009879", "mim:262650", "262650" ] }, { "record_id": "MONDO:0009879", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "stature", "due", "to", "growth", "hormone", "qualitative", "anomaly", "short stature", "stature due", "due to", "to growth", "growth hormone", "hormone qualitative", "qualitative anomaly", "short stature due", "stature due to", "due to growth", "to growth hormone", "growth hormone qualitative", "hormone qualitative anomaly", "short stature due to", "stature due to growth", "due to growth hormone", "to growth hormone qualitative", "growth hormone qualitative anomaly", "short stature due to growth", "stature due to growth hormone", "due to growth hormone qualitative", "to growth hormone qualitative anomaly", "kowarski", "syndrome", "kowarski syndrome" ] }, { "record_id": "MONDO:0009879", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009879", "record_type": "disease", "section": "proteins", "phraselist": [ "p01241", "p01241 1", "soma_human", "np_000506", "csh1", "csh2", "gh1", "gh", "gh n", "ghb5", "ghn", "ighd1a", "ighd1b", "ighd2", "hgh", "hgh n" ] }, { "record_id": "MONDO:0009879", "record_type": "disease", "section": "proteins", "phraselist": [ "somatotropin", "gh", "gh n", "growth", "hormone", "growth hormone", "hormone 1", "growth hormone 1", "pituitary", "pituitary growth", "pituitary growth hormone", "b5", "hormone b5", "growth hormone b5", "isoform", "precursor", "somatotropin isoform", "isoform 1", "1 precursor", "somatotropin isoform 1", "isoform 1 precursor", "somatotropin isoform 1 precursor" ] }, { "record_id": "MONDO:0009890", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0009890", "0009890", "mim:263210", "263210" ] }, { "record_id": 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alg9", "alpha 1 2 mannosyltransferase", "1 2 mannosyltransferase alg9", "alpha 1 2 mannosyltransferase alg9", "2.4.1.259", "2.4.1.261", "asparagine", "linked", "glycosylation", "protein", "homolog", "asparagine linked", "linked glycosylation", "glycosylation protein", "protein 9", "9 homolog", "asparagine linked glycosylation", "linked glycosylation protein", "glycosylation protein 9", "protein 9 homolog", "asparagine linked glycosylation protein", "linked glycosylation protein 9", "glycosylation protein 9 homolog", "asparagine linked glycosylation protein 9", "linked glycosylation protein 9 homolog", "disrupted", "in", "bipolar", "disorder", "disrupted in", "in bipolar", "bipolar disorder", "disorder protein", "protein 1", "disrupted in bipolar", "in bipolar disorder", "bipolar disorder protein", "disorder protein 1", "disrupted in bipolar disorder", "in bipolar disorder protein", "bipolar disorder protein 1", "disrupted in bipolar disorder protein", "in bipolar disorder protein 1", "dol", "man:man", "glcnac", "pp", "dol p", "p man:man", "man:man 6", "6 glcnac", "glcnac 2", "pp dol", "dol alpha", "dol p man:man", "p man:man 6", "man:man 6 glcnac", "6 glcnac 2", "2 pp", "pp dol alpha", "dol alpha 1", "dol p man:man 6", "p man:man 6 glcnac", "man:man 6 glcnac 2", "glcnac 2 pp", "2 pp dol", "pp dol alpha 1", "dol alpha 1 2", "dol p man:man 6 glcnac", "p man:man 6 glcnac 2", "6 glcnac 2 pp", "glcnac 2 pp dol", "2 pp dol alpha", "pp dol alpha 1 2", "dol alpha 1 2 mannosyltransferase", "man:man 8", "8 glcnac", "p man:man 8", "man:man 8 glcnac", "8 glcnac 2", "dol p man:man 8", "p man:man 8 glcnac", "man:man 8 glcnac 2", "dol p man:man 8 glcnac", "p man:man 8 glcnac 2", "8 glcnac 2 pp", "isoform", "alg9 isoform", "isoform b", "mannosyltransferase alg9 isoform", "alg9 isoform b", "2 mannosyltransferase alg9 isoform", "mannosyltransferase alg9 isoform b", "1 2 mannosyltransferase alg9 isoform", "2 mannosyltransferase alg9 isoform b", "12", "like", "glycosylation 9", "9 alpha", "alpha 12", "12 mannosyltransferase", "mannosyltransferase like", "like protein", "linked glycosylation 9", "glycosylation 9 alpha", "9 alpha 12", "alpha 12 mannosyltransferase", "12 mannosyltransferase like", "mannosyltransferase like protein", "asparagine linked glycosylation 9", "linked glycosylation 9 alpha", "glycosylation 9 alpha 12", "9 alpha 12 mannosyltransferase", "alpha 12 mannosyltransferase like", "12 mannosyltransferase like protein", "asparagine linked glycosylation 9 alpha", "linked glycosylation 9 alpha 12", "glycosylation 9 alpha 12 mannosyltransferase", "9 alpha 12 mannosyltransferase like", "alpha 12 mannosyltransferase like protein", "s.", "cerevisiae", "s. cerevisiae", "glycosylation 9 homolog", "homolog s.", "cerevisiae alpha", "linked glycosylation 9 homolog", "9 homolog s.", "homolog s. cerevisiae", "s. cerevisiae alpha", "asparagine linked glycosylation 9 homolog", "glycosylation 9 homolog s.", "9 homolog s. cerevisiae", "cerevisiae alpha 1", "yeast", "homolog yeast", "yeast alpha", "9 homolog yeast", "glycosylation 9 homolog yeast", "homolog yeast alpha", "yeast alpha 1", "mannosyltransferase homolog", "2 mannosyltransferase homolog", "9 alpha 1", "1 2 mannosyltransferase homolog", "glycosylation 9 alpha 1", "9 alpha 1 2", "alpha 1 2 mannosyltransferase homolog", "affective", "bipolar affective", "affective disorder", "disorder 1", "in bipolar affective", "bipolar affective disorder", "affective disorder 1", "disrupted in bipolar affective", "in bipolar affective disorder", "bipolar affective disorder 1", "disrupted in bipolar affective disorder", "in bipolar affective disorder 1", "man", "dependent", "p man", "man dependent", "dependent alpha", "dol p man", "p man dependent", "man dependent alpha", "dependent alpha 1", "dol p man dependent", "p man dependent alpha", "man dependent alpha 1", "dependent alpha 1 2", "dol p man dependent alpha", "p man dependent alpha 1", "man dependent alpha 1 2", "dependent alpha 1 2 mannosyltransferase", "dolichyl", "dolichol", "dolichyl p", "pp dolichol", "dolichol alpha", "dolichyl p man:man", "pp dolichol alpha", "dolichol alpha 1", "dolichyl p man:man 6", "2 pp dolichol", "pp dolichol alpha 1", "dolichol alpha 1 2", "dolichyl p man:man 6 glcnac", "glcnac 2 pp dolichol", "2 pp dolichol alpha", "pp dolichol alpha 1 2", "dolichol alpha 1 2 mannosyltransferase", "dolichyl p man:man 8", "dolichyl p man:man 8 glcnac", "loss", "of", "heterozygosity", "11", "chromosomal", "region", "gene", "product", "loss of", "of heterozygosity", "chromosomal region", "region 1", "1 gene", "gene j", "j product", "loss of heterozygosity", "heterozygosity 11", "11 chromosomal", "chromosomal region 1", "region 1 gene", "1 gene j", "gene j product", "of heterozygosity 11", "11 chromosomal region", "chromosomal region 1 gene", "region 1 gene j", "1 gene j product", "loss of heterozygosity 11", "heterozygosity 11 chromosomal", "11 chromosomal region 1", "chromosomal region 1 gene j", "region 1 gene j product" ] }, { "record_id": "MONDO:0009897", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0009897", "0009897", "mim:263570", "263570" ] }, { "record_id": "MONDO:0009897", "record_type": "disease", "section": "disease_name", "phraselist": [ "adult", "polyglucosan", "body", "disease", "adult polyglucosan", "polyglucosan body", "body disease", "adult polyglucosan body", "polyglucosan body disease", "adult polyglucosan body disease", "apbd", "apbn", "disease adult", "body disease adult", "polyglucosan body disease adult", "neuropathy", "form", "body neuropathy", "adult form", "polyglucosan body neuropathy", "neuropathy adult", "body neuropathy adult", "neuropathy adult form", "polyglucosan body neuropathy adult", "body neuropathy adult form" ] }, { "record_id": "MONDO:0009897", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009897", "record_type": "disease", "section": "proteins", "phraselist": [ "q04446", "q04446 1", "glgb_human", "np_000149", "glycoprotein", "gbe1", "apbd", "gbe", "gsd4" ] }, { "record_id": "MONDO:0009897", "record_type": "disease", "section": "proteins", "phraselist": [ "alpha", "glucan", "branching", "enzyme", "1 4", "4 alpha", "alpha glucan", "glucan branching", "branching enzyme", "1 4 alpha", "4 alpha glucan", "alpha glucan branching", "glucan branching enzyme", "1 4 alpha glucan", "4 alpha glucan branching", "alpha glucan branching enzyme", "1 4 alpha glucan branching", "4 alpha glucan branching enzyme", "2.4.1.18", "brancher", "brancher enzyme", "glycogen", "glycogen branching", "glycogen branching enzyme", "amylo", "to", "transglucosidase", "4 to", "to 1", "1 6", "amylo 1", "1 4 to", "4 to 1", "to 1 6", "6 transglucosidase", "amylo 1 4", "1 4 to 1", "4 to 1 6", "1 6 transglucosidase", "amylo 1 4 to", "1 4 to 1 6", "to 1 6 transglucosidase", "transglycosylase", "6 transglycosylase", "1 6 transglycosylase", "to 1 6 transglycosylase", "enzyme 1", "glucan 1", "branching enzyme 1", "glucan 1 4", "glucan 1 4 alpha", "alpha branching" ] }, { "record_id": "MONDO:0009923", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0009923", "0009923", "mim:264600", "264600" ] }, { "record_id": "MONDO:0009923", "record_type": "disease", "section": "disease_name", "phraselist": [ "46", "xy", "disorder", "of", "sex", "development", "due", "to", "alpha", "reductase", "deficiency", "46 xy", "xy disorder", "disorder of", "of sex", "sex development", "development due", "due to", "to 5", "5 alpha", "alpha reductase", "reductase 2", "2 deficiency", "46 xy disorder", "xy disorder of", "disorder of sex", "of sex development", "sex development due", "development due to", "due to 5", "to 5 alpha", "5 alpha reductase", "alpha reductase 2", "reductase 2 deficiency", "46 xy disorder of", "xy disorder of sex", "disorder of sex development", "of sex development due", "sex development due to", "development due to 5", "due to 5 alpha", "to 5 alpha reductase", "5 alpha reductase 2", "alpha reductase 2 deficiency", "46 xy disorder of sex", "xy disorder of sex development", "disorder of sex development due", "of sex development due to", "sex development due to 5", "development due to 5 alpha", "due to 5 alpha reductase", "to 5 alpha reductase 2", "5 alpha reductase 2 deficiency", "oxo", "steroid", "delta", "dehydrogenase", "3 oxo", "oxo 5", "alpha steroid", "steroid delta", "delta 4", "4 dehydrogenase", "dehydrogenase deficiency", "3 oxo 5", "oxo 5 alpha", "5 alpha steroid", "alpha steroid delta", "steroid delta 4", "delta 4 dehydrogenase", "4 dehydrogenase deficiency", "3 oxo 5 alpha", "oxo 5 alpha steroid", "5 alpha steroid delta", "alpha steroid delta 4", "steroid delta 4 dehydrogenase", "delta 4 dehydrogenase deficiency", "3 oxo 5 alpha steroid", "oxo 5 alpha steroid delta", "5 alpha steroid delta 4", "alpha steroid delta 4 dehydrogenase", "steroid delta 4 dehydrogenase deficiency", "dsd", "xy dsd", "dsd due", "46 xy dsd", "xy dsd due", "dsd due to", "46 xy dsd due", "xy dsd due to", "dsd due to 5", "46 xy dsd due to", "xy dsd due to 5", "dsd due to 5 alpha", "steroid reductase", "alpha steroid reductase", "steroid reductase 2", "5 alpha steroid reductase", "alpha steroid reductase 2", "steroid reductase 2 deficiency", "5 alpha steroid reductase 2", "alpha steroid reductase 2 deficiency", "male", "pseudohermaphroditism", "male pseudohermaphroditism", "pseudohermaphroditism due", "male pseudohermaphroditism due", "pseudohermaphroditism due to", "male pseudohermaphroditism due to", "pseudohermaphroditism due to 5", "male pseudohermaphroditism due to 5", "pseudohermaphroditism due to 5 alpha", "pseudovaginal", "perineoscrotal", "hypospadias", "pseudovaginal perineoscrotal", "perineoscrotal hypospadias", "pseudovaginal perineoscrotal hypospadias", "steroid 5", "reductase deficiency", "steroid 5 alpha", "alpha reductase deficiency", "steroid 5 alpha reductase", "5 alpha reductase deficiency", "steroid 5 alpha reductase deficiency", "ppsh" ] }, { "record_id": "MONDO:0009923", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009923", "record_type": "disease", "section": "proteins", "phraselist": [ "p31213", "p31213 1", "s5a2_human", "np_000339", "srd5a2" ] }, { "record_id": "MONDO:0009923", "record_type": "disease", "section": "proteins", "phraselist": [ "oxo", "alpha", "steroid", "dehydrogenase", "3 oxo", "oxo 5", "5 alpha", "alpha steroid", "steroid 4", "4 dehydrogenase", "dehydrogenase 2", "3 oxo 5", "oxo 5 alpha", "5 alpha steroid", "alpha steroid 4", "steroid 4 dehydrogenase", "4 dehydrogenase 2", "3 oxo 5 alpha", "oxo 5 alpha steroid", "5 alpha steroid 4", "alpha steroid 4 dehydrogenase", "steroid 4 dehydrogenase 2", "3 oxo 5 alpha steroid", "oxo 5 alpha steroid 4", "5 alpha steroid 4 dehydrogenase", "alpha steroid 4 dehydrogenase 2", "1.3.1.22", "sr2", "alpha sr2", "5 alpha sr2", "s5ar", "s5ar 2", "sr", "type", "sr type", "type 2", "sr type 2", "reductase", "steroid 5", "alpha reductase", "reductase 2", "steroid 5 alpha", "5 alpha reductase", "alpha reductase 2", "steroid 5 alpha reductase", "5 alpha reductase 2", "steroid 5 alpha reductase 2", "ii", "type ii", "ii 5", "type ii 5", "ii 5 alpha", "type ii 5 alpha", "ii 5 alpha reductase", "type ii 5 alpha reductase", "polypeptide", "delta", "alpha polypeptide", "polypeptide 2", "steroid delta", "delta 4", "dehydrogenase alpha", "alpha 2", "reductase alpha", "alpha polypeptide 2", "2 3", "alpha steroid delta", "steroid delta 4", "delta 4 dehydrogenase", "4 dehydrogenase alpha", "dehydrogenase alpha 2", "alpha reductase alpha", "reductase alpha polypeptide", "polypeptide 2 3", "2 3 oxo", "5 alpha steroid delta", "alpha steroid delta 4", "steroid delta 4 dehydrogenase", "delta 4 dehydrogenase alpha", "4 dehydrogenase alpha 2", "5 alpha reductase alpha", "alpha reductase alpha polypeptide", "reductase alpha polypeptide 2", "alpha polypeptide 2 3", "polypeptide 2 3 oxo", "2 3 oxo 5", "oxo 5 alpha steroid delta", "5 alpha steroid delta 4", "alpha steroid delta 4 dehydrogenase", "steroid delta 4 dehydrogenase alpha", "delta 4 dehydrogenase alpha 2" ] }, { "record_id": "MONDO:0009968", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0009968", "0009968", "mim:267300", "267300" ] }, { "record_id": "MONDO:0009968", "record_type": "disease", "section": "disease_name", "phraselist": [ "renal", "tubular", "acidosis", "distal", "with", "progressive", "sensorineural", "hearing", "loss", "renal tubular", "tubular acidosis", "with progressive", "progressive sensorineural", "sensorineural hearing", "hearing loss", "renal tubular acidosis", "acidosis distal", "distal 2", "2 with", "with progressive sensorineural", "progressive sensorineural hearing", "sensorineural hearing loss", "tubular acidosis distal", "2 with progressive", "with progressive sensorineural hearing", "progressive sensorineural hearing loss", "renal tubular acidosis distal", "acidosis distal 2", "distal 2 with", "2 with progressive sensorineural", "with progressive sensorineural hearing loss", "distal renal", "acidosis 2", "distal renal tubular", "tubular acidosis 2", "acidosis 2 with", "distal renal tubular acidosis", "renal tubular acidosis 2", "tubular acidosis 2 with", "acidosis 2 with progressive", "distal renal tubular acidosis 2", "renal tubular acidosis 2 with", "tubular acidosis 2 with progressive", "acidosis 2 with progressive sensorineural", "2 with progressive sensorineural hearing", "co", "occurrent", "deafness", "acidosis co", "co occurrent", "occurrent with", "with sensorineural", "sensorineural deafness", "tubular acidosis co", "acidosis co occurrent", "co occurrent with", "occurrent with sensorineural", "with sensorineural deafness", "renal tubular acidosis co", "tubular acidosis co occurrent", "acidosis co occurrent with", "co occurrent with sensorineural", "occurrent with sensorineural deafness", "distal renal tubular acidosis co", "renal tubular acidosis co occurrent", "tubular acidosis co occurrent with", "acidosis co occurrent with sensorineural", "co occurrent with sensorineural deafness", "nerve", "progressive nerve", "nerve deafness", "distal with", "with progressive nerve", "progressive nerve deafness", "distal with progressive", "with progressive nerve deafness", "acidosis distal with", "distal with progressive nerve", "ar", "drta", "ar drta", "drta with", "with deafness", "ar drta with", "drta with deafness", "ar drta with deafness", "with hearing", "drta with hearing", "with hearing loss", "ar drta with hearing", "drta with hearing loss", "ar drta with hearing loss", "autosomal", "recessive", "autosomal recessive", "recessive distal", "acidosis with", "autosomal recessive distal", "recessive distal renal", "tubular acidosis with", "acidosis with deafness", "autosomal recessive distal renal", "recessive distal renal tubular", "renal tubular acidosis with", "tubular acidosis with deafness", "autosomal recessive distal renal tubular", "recessive distal renal tubular acidosis", "distal renal tubular acidosis with", "renal tubular acidosis with deafness", "acidosis with hearing", "tubular acidosis with hearing", "acidosis with hearing loss", "renal tubular acidosis with hearing", "tubular acidosis with hearing loss", "acidosis progressive", "tubular acidosis progressive", "acidosis progressive nerve", "renal tubular acidosis progressive", "tubular acidosis progressive nerve", "acidosis progressive nerve deafness", "renal tubular acidosis progressive nerve", "tubular acidosis progressive nerve deafness", "type", "1b", "acidosis type", "type 1b", "tubular acidosis type", "acidosis type 1b", "renal tubular acidosis type", "tubular acidosis type 1b", "renal tubular acidosis type 1b" ] }, { "record_id": "MONDO:0009968", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009968", "record_type": "disease", "section": "proteins", "phraselist": [ "p15313", "p15313 1", "vatb1_human", "np_001683", "atp6v1b1", "atp6b1", "drta2", "rta1b", "vatb", "vma2", "vpp3" ] }, { "record_id": "MONDO:0009968", "record_type": "disease", "section": "proteins", "phraselist": [ "type", "proton", "atpase", "subunit", "kidney", "isoform", "v type", "type proton", "proton atpase", "atpase subunit", "subunit b", "kidney isoform", "v type proton", "type proton atpase", "proton atpase subunit", "atpase subunit b", "b kidney", "v type proton atpase", "type proton atpase subunit", "proton atpase subunit b", "subunit b kidney", "b kidney isoform", "v type proton atpase subunit", "type proton atpase subunit b", "atpase subunit b kidney", "subunit b kidney isoform", "h+", 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"disease_id", "phraselist": [ "mondo:0009970", "0009970", "mim:267430", "267430" ] }, { "record_id": "MONDO:0009970", "record_type": "disease", "section": "disease_name", "phraselist": [ "renal", "tubular", "dysgenesis", "of", "genetic", "origin", "renal tubular", "tubular dysgenesis", "dysgenesis of", "of genetic", "genetic origin", "renal tubular dysgenesis", "tubular dysgenesis of", "dysgenesis of genetic", "of genetic origin", "renal tubular dysgenesis of", "tubular dysgenesis of genetic", "dysgenesis of genetic origin", "renal tubular dysgenesis of genetic", "tubular dysgenesis of genetic origin", "genetic renal", "genetic renal tubular", "genetic renal tubular dysgenesis", "rtd" ] }, { "record_id": "MONDO:0009970", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009970", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009970", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009970", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009970", "record_type": "disease", "section": "proteins", "phraselist": [ "p12821", "p12821 1", "ace_human", "np_000780", "glycoprotein", "ace", "ace1", "cd143", "dcp1", "dcp", "p30556", "p30556 1", "agtr1_human", "np_000676", "agtr1", "ag2s", "agtr1a", "agtr1b", "at1ar", "at1br", "at1b", "at1r", "at1", "at2r1b", "at2r1", "atr1", "hat1r", "p01019", "p01019 1", "angt_human", "np_001369746", "agt", "anhu", "serpina8", "hflt1", "p00797", "p00797 1", "reni_human", "np_000528", "ren", "adtkd4", "hnfj2", "rtd" ] }, { "record_id": "MONDO:0009970", "record_type": "disease", "section": "proteins", "phraselist": [ "angiotensin", "converting", "enzyme", "angiotensin converting", "converting enzyme", "angiotensin converting enzyme", "3.4.15.1", "ace", "cd143", "antigen", "cd143 antigen", "dipeptidyl", "carboxypeptidase", "dipeptidyl carboxypeptidase", "carboxypeptidase i", "dipeptidyl carboxypeptidase i", "kininase", "ii", "kininase ii", "peptidyl", "dipeptidase", "angiotensin i", "i converting", "peptidyl dipeptidase", "dipeptidase a", "angiotensin i converting", "i converting enzyme", "enzyme peptidyl", "peptidyl dipeptidase a", "a 1", "angiotensin i converting enzyme", "converting enzyme peptidyl", "enzyme peptidyl dipeptidase", "dipeptidase a 1", "i converting enzyme peptidyl", "converting enzyme peptidyl dipeptidase", "enzyme peptidyl dipeptidase a", "peptidyl dipeptidase a 1", "isoform", "precursor", "enzyme isoform", "isoform 1", "1 precursor", "converting enzyme isoform", "enzyme isoform 1", 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cysteine", "proteinase inhibitor", "serine or", "cysteine proteinase", "serine or cysteine", "or cysteine proteinase", "cysteine proteinase inhibitor", "or cysteine proteinase inhibitor", "clade", "member", "serpin peptidase", "peptidase inhibitor", "clade a", "member 8", "serpin peptidase inhibitor", "inhibitor clade", "a member", "peptidase inhibitor clade", "inhibitor clade a", "clade a member", "a member 8", "serpin peptidase inhibitor clade", "peptidase inhibitor clade a", "clade a member 8", "renin", "3.4.23.15", "angiotensinogenase", "forming", "angiotensin forming", "forming enzyme", "angiotensin forming enzyme", "renal", "renin precursor", "precursor renal", "renin precursor renal", "preproprotein", "renin preproprotein" ] }, { "record_id": "MONDO:0009998", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0009998", "0009998", "mim:268305", "268305" ] }, { "record_id": "MONDO:0009998", "record_type": "disease", "section": "disease_name", "phraselist": [ "richieri", "costa", "pereira", "syndrome", "richieri costa", "costa pereira", "pereira syndrome", "richieri costa pereira", "costa pereira syndrome", "richieri costa pereira syndrome", "short", "stature", "pierre", "robin", "sequence", "cleft", "mandible", "hand", "anomalies", "clubfoot", "short stature", "stature pierre", "pierre robin", "robin sequence", "sequence cleft", "cleft mandible", "mandible hand", "hand anomalies", "anomalies clubfoot", "clubfoot syndrome", "short stature pierre", "stature pierre robin", "pierre robin sequence", "robin sequence cleft", "sequence cleft mandible", "cleft mandible hand", "mandible hand anomalies", "hand anomalies clubfoot", "anomalies clubfoot syndrome", "short stature pierre robin", "stature pierre robin sequence", "pierre robin sequence cleft", "robin sequence cleft mandible", "sequence cleft mandible hand", "cleft mandible hand anomalies", "mandible hand anomalies clubfoot", "hand anomalies clubfoot syndrome", "short stature pierre robin sequence", "stature pierre robin sequence cleft", "pierre robin sequence cleft mandible", "robin sequence cleft mandible hand", "sequence cleft mandible hand anomalies", "cleft mandible hand anomalies clubfoot", "mandible hand anomalies clubfoot syndrome", "robin syndrome", "syndrome cleft", "pierre robin syndrome", "robin syndrome cleft", "syndrome cleft mandible", "stature pierre robin syndrome", "pierre robin syndrome cleft", "robin syndrome cleft mandible", "syndrome cleft mandible hand", "short stature pierre robin syndrome", "stature pierre robin syndrome cleft", "pierre robin syndrome cleft mandible", "robin syndrome cleft mandible hand", "syndrome cleft mandible hand anomalies", "and", "form", "of", "acrofacial", "dysostosis", "costa and", "and pereira", "pereira form", "form of", "of acrofacial", "acrofacial dysostosis", "richieri costa and", "costa and pereira", "and pereira form", "pereira form of", "form of acrofacial", "of acrofacial dysostosis", "richieri costa and pereira", "costa and pereira form", "and pereira form of", "pereira form of acrofacial", "form of acrofacial dysostosis", "richieri costa and pereira form", "costa and pereira form of", "and pereira form of acrofacial", "pereira form of acrofacial dysostosis", "pre/postaxial", "pre/postaxial hand", "and clubfoot", "stature robin", "mandible pre/postaxial", "pre/postaxial hand anomalies", "anomalies and", "short stature robin", "stature robin sequence", "cleft mandible pre/postaxial", "mandible pre/postaxial hand", "hand anomalies and", "anomalies and clubfoot", "short stature robin sequence", "cleft mandible pre/postaxial hand", "mandible pre/postaxial hand anomalies", "pre/postaxial hand anomalies and", "hand anomalies and clubfoot" ] }, { "record_id": "MONDO:0009998", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0009998", "record_type": "disease", "section": "proteins", "phraselist": [ "p38919", "p38919 1", "if4a3_human", "np_055555", "glycoprotein", "eif4a3", "ddx48", "fal1", "kiaa0111", "muk34", "nmp265", "nuk34", "rcps", "eif", "4a", "iii", "eif 4a", "4a iii", "eif 4a iii", "eif4a", "eif4a iii", "eif4aiii" ] }, { "record_id": "MONDO:0009998", "record_type": "disease", "section": "proteins", "phraselist": [ "eukaryotic", "initiation", "factor", "4a", "iii", "eukaryotic initiation", "initiation factor", "factor 4a", "4a iii", "eukaryotic initiation factor", "initiation factor 4a", "factor 4a iii", "eukaryotic initiation factor 4a", "initiation factor 4a iii", "eukaryotic initiation factor 4a iii", "3.6.4.13", "atp", "dependent", "rna", "helicase", "ddx48", "atp dependent", "dependent rna", "rna helicase", "helicase ddx48", "atp dependent rna", "dependent rna helicase", "rna helicase ddx48", "atp dependent rna helicase", "dependent rna helicase ddx48", "atp dependent rna helicase ddx48", "eif4a", "helicase eif4a", "eif4a 3", "rna helicase eif4a", "helicase eif4a 3", "dependent rna helicase eif4a", "rna helicase eif4a 3", "atp dependent rna helicase eif4a", "dependent rna helicase eif4a 3", "dead", "asp", "glu", "ala", "box", "polypeptide", "48", "asp glu", "glu ala", "ala asp", "box polypeptide", "polypeptide 48", "dead asp", "asp glu ala", "glu ala asp", "asp box", "box polypeptide 48", "dead asp glu", "asp glu ala asp", "ala asp box", "asp box polypeptide", "dead asp glu ala", "glu ala asp box", "ala asp box polypeptide", "asp box polypeptide 48", "protein", "dead box", "box protein", "protein 48", "dead box protein", "box protein 48", "dead box protein 48", "like", "nuk", "34", "4a like", "like nuk", "nuk 34", "factor 4a like", "4a like nuk", "like nuk 34", "initiation factor 4a like", "factor 4a like nuk", "4a like nuk 34", "eukaryotic initiation factor 4a like", "initiation factor 4a like nuk", "factor 4a like nuk 34", "translation", "isoform", "eukaryotic translation", "translation initiation", "4a 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"record_id": "MONDO:0010000", "record_type": "disease", "section": "proteins", "phraselist": [ "q7lg56", "q7lg56 1", "rir2b_human", "np_001165948", "glycoprotein", "rrm2b", "mtdps8a", "mtdps8b", "p53r2", "rcdfrd" ] }, { "record_id": "MONDO:0010000", "record_type": "disease", "section": "proteins", "phraselist": [ "ribonucleoside", "diphosphate", "reductase", "subunit", "m2", "ribonucleoside diphosphate", "diphosphate reductase", "reductase subunit", "subunit m2", "m2 b", "ribonucleoside diphosphate reductase", "diphosphate reductase subunit", "reductase subunit m2", "subunit m2 b", "ribonucleoside diphosphate reductase subunit", "diphosphate reductase subunit m2", "reductase subunit m2 b", "ribonucleoside diphosphate reductase subunit m2", "diphosphate reductase subunit m2 b", "1.17.4.1", "tp53", "inducible", "ribonucleotide", "tp53 inducible", "inducible ribonucleotide", "ribonucleotide reductase", "reductase m2", "tp53 inducible ribonucleotide", "inducible ribonucleotide reductase", 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"section": "proteins", "phraselist": [ "transcription", "factor", "sox", "transcription factor", "factor sox", "sox 3", "transcription factor sox", "factor sox 3", "transcription factor sox 3", "sry", "sex", "determining", "region", "box", "sex determining", "determining region", "region y", "box 3", "sry sex", "sex determining region", "determining region y", "y box", "sry sex determining", "sex determining region y", "region y box", "y box 3", "sry sex determining region", "determining region y box", "region y box 3", "sry box", "sry box 3" ] }, { "record_id": "MONDO:0010275", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0010275", "0010275", "mim:300232", "300232" ] }, { "record_id": "MONDO:0010275", "record_type": "disease", "section": "disease_name", "phraselist": [ "spondyloepimetaphyseal", "dysplasia", "bieganski", "type", "spondyloepimetaphyseal dysplasia", "bieganski type", "dysplasia bieganski", "spondyloepimetaphyseal dysplasia bieganski", 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{ "record_id": "MONDO:0011141", "record_type": "disease", "section": "disease_name", "phraselist": [ "megaloblastic", "anemia", "folate", "responsive", "megaloblastic anemia", "folate responsive", "anemia folate", "megaloblastic anemia folate", "anemia folate responsive", "megaloblastic anemia folate responsive", "megaf", "level", "in", "erythrocytes", "folate level", "level in", "in erythrocytes", "folate level in", "level in erythrocytes", "folate level in erythrocytes" ] }, { "record_id": "MONDO:0011141", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011141", "record_type": "disease", "section": "proteins", "phraselist": [ "p41440", "p41440 1", "s19a1_human", "np_001192135", "glycoprotein", "slc19a1", "chmd", "flot1", "folt", "ifc", "ifc 1", "ifc1", "imd114", "megaf", "refc", "rfc1", "rfc", "rft", "rft 1", "hrfc", "hslc19a1" ] }, { "record_id": 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"plin4_human", "np_001354797", "glycoprotein", "plin4", "kiaa1881", "mdrv", "mrupav", "s3", "12", "s3 12" ] }, { "record_id": "MONDO:0011155", "record_type": "disease", "section": "proteins", "phraselist": [ "perilipin", "perilipin 4", "adipocyte", "protein", "s3", "12", "adipocyte protein", "protein s3", "s3 12", "adipocyte protein s3", "protein s3 12", "adipocyte protein s3 12", "muscular", "dystrophy", "with", "rimmed", "vacuoles", "muscular dystrophy", "with rimmed", "rimmed vacuoles", "dystrophy with", "with rimmed vacuoles", "muscular dystrophy with", "dystrophy with rimmed", "muscular dystrophy with rimmed", "dystrophy with rimmed vacuoles", "isoform", "4 isoform", "isoform 2", "perilipin 4 isoform", "4 isoform 2", "perilipin 4 isoform 2" ] }, { "record_id": "MONDO:0011163", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0011163", "0011163", "mim:601887", "601887" ] }, { "record_id": "MONDO:0011163", "record_type": "disease", "section": "disease_name", "phraselist": [ "malignant", "hyperthermia", "susceptibility", "to", "malignant hyperthermia", "susceptibility to", "hyperthermia susceptibility", "to 5", "malignant hyperthermia susceptibility", "hyperthermia susceptibility to", "susceptibility to 5", "malignant hyperthermia susceptibility to", "cacna1s", "of", "anaesthesia", "cacna1s malignant", "hyperthermia of", "of anaesthesia", "cacna1s malignant hyperthermia", "malignant hyperthermia of", "hyperthermia of anaesthesia", "cacna1s malignant hyperthermia of", "malignant hyperthermia of anaesthesia", "cacna1s malignant hyperthermia of anaesthesia", "anesthesia", "of anesthesia", "hyperthermia of anesthesia", "malignant hyperthermia of anesthesia", "cacna1s malignant hyperthermia of anesthesia", "caused", "by", "mutation", "in", "anaesthesia caused", "caused by", "by mutation", "mutation in", "in cacna1s", "of anaesthesia caused", "anaesthesia caused by", "caused by mutation", "by mutation in", "mutation in cacna1s", "hyperthermia of 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"infantile myoclonus epilepsy", "familial infantile myoclonus epilepsy", "epilepsy infantile", "infantile familial", "myoclonic epilepsy infantile", "epilepsy infantile familial", "epilepsy familial", "myoclonic epilepsy familial", "epilepsy familial infantile", "myoclonic epilepsy familial infantile" ] }, { "record_id": "MONDO:0011506", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011506", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ulp9", "q9ulp9 1", "tbc24_human", "np_065756", "glycoprotein", "tbc1d24", "dee16", "dfna65", "dfnb86", "doors", "eiee16", "eim", "eprpdc", "fime", "kiaa1171", "tldc6" ] }, { "record_id": "MONDO:0011506", "record_type": "disease", "section": "proteins", "phraselist": [ "tbc1", "domain", "family", "member", "24", "tbc1 domain", "domain family", "family member", "member 24", "tbc1 domain family", 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}, { "record_id": "MONDO:0011510", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0011510", "0011510", "mim:605039", "605039" ] }, { "record_id": "MONDO:0011510", "record_type": "disease", "section": "disease_name", "phraselist": [ "bohring", "opitz", "syndrome", "bohring opitz", "opitz syndrome", "bohring opitz syndrome", "bohring syndrome", "bos", "bos syndrome", "like", "c like", "like syndrome", "c like syndrome", "oberklaid", "danks", "oberklaid danks", "danks syndrome", "oberklaid danks syndrome", "trigonocephaly", "opitz trigonocephaly", "trigonocephaly like", "opitz trigonocephaly like", "trigonocephaly like syndrome", "opitz trigonocephaly like syndrome", "bops" ] }, { "record_id": "MONDO:0011510", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011510", "record_type": "disease", "section": "proteins", "phraselist": [ "q8ixj9", "q8ixj9 1", "asxl1_human", "np_056153", "glycoprotein", "asxl1", "bops", "kiaa0978", "mds" ] }, { "record_id": "MONDO:0011510", "record_type": "disease", "section": "proteins", "phraselist": [ "polycomb", "group", "protein", "asxl1", "polycomb group", "group protein", "protein asxl1", "polycomb group protein", "group protein asxl1", "polycomb group protein asxl1", "additional", "sex", "combs", "like", "additional sex", "sex combs", "combs like", "like protein", "protein 1", "additional sex combs", "sex combs like", "combs like protein", "like protein 1", "additional sex combs like", "sex combs like protein", "combs like protein 1", "additional sex combs like protein", "sex combs like protein 1", "transcriptional", "regulator", "like 1", "transcriptional regulator", "combs like 1", "1 transcriptional", "sex combs like 1", "like 1 transcriptional", "1 transcriptional regulator", "additional sex combs like 1", "combs like 1 transcriptional", "like 1 transcriptional regulator", 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"pseudohyperaldosteronism", "type", "pseudohyperaldosteronism type", "type 2", "pseudohyperaldosteronism type 2", "early", "onset", "hypertension", "with", "exacerbation", "in", "pregnancy", "early onset", "onset hypertension", "hypertension with", "with exacerbation", "exacerbation in", "in pregnancy", "early onset hypertension", "onset hypertension with", "hypertension with exacerbation", "with exacerbation in", "exacerbation in pregnancy", "early onset hypertension with", "onset hypertension with exacerbation", "hypertension with exacerbation in", "with exacerbation in pregnancy", "early onset hypertension with exacerbation", "onset hypertension with exacerbation in", "hypertension with exacerbation in pregnancy", "due", "to", "gain", "of", "function", "mutations", "the", "mineralocorticoid", "receptor", "hypertension due", "due to", "to gain", "gain of", "of function", "function mutations", "mutations in", "in the", "the mineralocorticoid", "mineralocorticoid receptor", 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"mineralocorticoid", "receptor", "mineralocorticoid receptor", "mr", "nuclear", "subfamily", "group", "member", "nuclear receptor", "receptor subfamily", "subfamily 3", "3 group", "group c", "c member", "member 2", "nuclear receptor subfamily", "receptor subfamily 3", "subfamily 3 group", "3 group c", "group c member", "c member 2", "nuclear receptor subfamily 3", "receptor subfamily 3 group", "subfamily 3 group c", "3 group c member", "group c member 2", "nuclear receptor subfamily 3 group", "receptor subfamily 3 group c", "subfamily 3 group c member", "3 group c member 2", "aldosterone", "aldosterone receptor", "receptor 1", "mineralocorticoid receptor 1", "receptor 2", "mineralocorticoid receptor 2", "delta", "receptor delta", "mineralocorticoid receptor delta", "isoform", "receptor isoform", "isoform 1", "mineralocorticoid receptor isoform", "receptor isoform 1", "mineralocorticoid receptor isoform 1" ] }, { "record_id": "MONDO:0011518", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0011518", "0011518", "mim:605130", "605130" ] }, { "record_id": "MONDO:0011518", "record_type": "disease", "section": "disease_name", "phraselist": [ "wiedemann", "steiner", "syndrome", "wiedemann steiner", "steiner syndrome", "wiedemann steiner syndrome", "hypertrichosis", "short", "stature", "facial", "dysmorphism", "developmental", "delay", "hypertrichosis short", "short stature", "stature facial", "facial dysmorphism", "dysmorphism developmental", "developmental delay", "delay syndrome", "hypertrichosis short stature", "short stature facial", "stature facial dysmorphism", "facial dysmorphism developmental", "dysmorphism developmental delay", "developmental delay syndrome", "hypertrichosis short stature facial", "short stature facial dysmorphism", "stature facial dysmorphism developmental", "facial dysmorphism developmental delay", "dysmorphism developmental delay syndrome", "hypertrichosis short stature facial dysmorphism", "short stature facial 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"species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011518", "record_type": "disease", "section": "proteins", "phraselist": [ "q03164", "q03164 1", "kmt2a_human", "np_001184033", "glycoprotein", "kmt2a", "all", "all 1", "all1", "cxxc7", "gas7", "hrx", "htrx1", "htrx", "mll1a", "mll1", "mll", "trx1", "wdsts" ] }, { "record_id": "MONDO:0011518", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "lysine", "methyltransferase", "2a", "histone lysine", "lysine n", "n methyltransferase", "methyltransferase 2a", "histone lysine n", "lysine n methyltransferase", "n methyltransferase 2a", "histone lysine n methyltransferase", "lysine n methyltransferase 2a", "histone lysine n methyltransferase 2a", "2.1.1.", "2.1.1.364", "all", "all 1", "acute", "lymphocytic", "acute lymphocytic", "lymphocytic 1", "acute lymphocytic 1", "terminal", "cleavage", "product", "of", "180", "kda", "c 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"bisphosphate 3 kinase catalytic subunit", "3 kinase catalytic subunit alpha", "kinase catalytic subunit alpha isoform", "2.7.1.137", "2.7.1.153", "2.7.11.1", "pi3", "p110", "pi3 kinase", "kinase p110", "p110 subunit", "pi3 kinase p110", "kinase p110 subunit", "p110 subunit alpha", "pi3 kinase p110 subunit", "kinase p110 subunit alpha", "pi3 kinase p110 subunit alpha", "kinase subunit", "pi3 kinase subunit", "kinase subunit alpha", "pi3 kinase subunit alpha", "pi3k", "pi3k alpha", "pi3kalpha", "110", "kda", "kinase 110", "110 kda", "kda catalytic", "3 kinase 110", "kinase 110 kda", "110 kda catalytic", "kda catalytic subunit", "bisphosphate 3 kinase 110", "3 kinase 110 kda", "kinase 110 kda catalytic", "110 kda catalytic subunit", "kda catalytic subunit alpha", "5 bisphosphate 3 kinase 110", "bisphosphate 3 kinase 110 kda", "3 kinase 110 kda catalytic", "kinase 110 kda catalytic subunit", "110 kda catalytic subunit alpha", "phosphoinositide", "phosphoinositide 3", "kinase alpha", "phosphoinositide 3 kinase", "3 kinase alpha", "phosphoinositide 3 kinase alpha", "polypeptide", "catalytic alpha", "alpha polypeptide", "kinase catalytic alpha", "catalytic alpha polypeptide", "phosphoinositide 3 kinase catalytic", "3 kinase catalytic alpha", "kinase catalytic alpha polypeptide", "phosphoinositide 3 kinase catalytic alpha", "3 kinase catalytic alpha polypeptide", "ptdins", "ptdins 3", "ptdins 3 kinase", "3 kinase subunit", "ptdins 3 kinase subunit", "3 kinase subunit alpha", "ptdins 3 kinase subunit alpha", "subunit p110", "p110 alpha", "kinase subunit p110", "subunit p110 alpha", "3 kinase subunit p110", "kinase subunit p110 alpha", "ptdins 3 kinase subunit p110", "3 kinase subunit p110 alpha", "serine/threonine", "protein", "pik3ca", "serine/threonine protein", "protein kinase", "kinase pik3ca", "serine/threonine protein kinase", "protein kinase pik3ca", "serine/threonine protein kinase pik3ca", "mutant", "mutant phosphatidylinositol", "mutant phosphatidylinositol 4", "mutant phosphatidylinositol 4 5", "mutant phosphatidylinositol 4 5 bisphosphate", "p110alpha", "kd", "phosphatidylinositol 3", "110 kd", "phosphatidylinositol 3 kinase", "catalytic 110", "kd alpha", "catalytic 110 kd", "110 kd alpha", "phosphatidylinositol 3 kinase catalytic", "kinase catalytic 110" ] }, { "record_id": "MONDO:0011725", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0011725", "0011725", "mim:606785", "606785" ] }, { "record_id": "MONDO:0011725", "record_type": "disease", "section": "disease_name", "phraselist": [ "crigler", "najjar", "syndrome", "type", "crigler najjar", "najjar syndrome", "syndrome type", "type 2", "crigler najjar syndrome", "najjar syndrome type", "syndrome type 2", "crigler najjar syndrome type", "najjar syndrome type 2", "crigler najjar syndrome type 2", "arias", "arias syndrome", "ugt", "deficiency", "ugt deficiency", "deficiency type", "ugt deficiency type", "deficiency type 2", "ugt deficiency type 2", "bilirubin", "uridinediphosphate", "glucuronosyltransferase", "bilirubin uridinediphosphate", "uridinediphosphate glucuronosyltransferase", "glucuronosyltransferase deficiency", "bilirubin uridinediphosphate glucuronosyltransferase", "uridinediphosphate glucuronosyltransferase deficiency", "glucuronosyltransferase deficiency type", "bilirubin uridinediphosphate glucuronosyltransferase deficiency", "uridinediphosphate glucuronosyltransferase deficiency type", "glucuronosyltransferase deficiency type 2", "bilirubin uridinediphosphate glucuronosyltransferase deficiency type", "uridinediphosphate glucuronosyltransferase deficiency type 2", "bilirubin ugt", "bilirubin ugt deficiency", "bilirubin ugt deficiency type", "bilirubin ugt deficiency type 2", "hereditary", "unconjugated", "hyperbilirubinemia", "hereditary unconjugated", "unconjugated hyperbilirubinemia", "hyperbilirubinemia type", "hereditary unconjugated hyperbilirubinemia", "unconjugated hyperbilirubinemia type", "hyperbilirubinemia type 2", "hereditary unconjugated hyperbilirubinemia type", "unconjugated hyperbilirubinemia type 2", "hereditary unconjugated hyperbilirubinemia type 2", "syndrome 2", "najjar syndrome 2", "crigler najjar syndrome 2" ] }, { "record_id": "MONDO:0011725", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011725", "record_type": "disease", "section": "proteins", "phraselist": [ "p22309", "p22309 1", "ud11_human", "np_000454", "glycoprotein", "ugt1a1", "biliqtl1", "gnt1", "hug", "br1", "hug br1", "udpgt", "udpgt 1", "1 1", "udpgt 1 1", "ugt1a", "ugt1" ] }, { "record_id": "MONDO:0011725", "record_type": "disease", "section": "proteins", "phraselist": [ "udp", "glucuronosyltransferase", "1a1", "udp glucuronosyltransferase", "glucuronosyltransferase 1a1", "udp glucuronosyltransferase 1a1", "2.4.1.17", "bilirubin", "specific", "udpgt", "isozyme", "bilirubin specific", 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"disease", "section": "disease_id", "phraselist": [ "mondo:0011732", "0011732", "mim:606835", "606835" ] }, { "record_id": "MONDO:0011732", "record_type": "disease", "section": "disease_name", "phraselist": [ "familial", "digital", "arthropathy", "brachydactyly", "familial digital", "digital arthropathy", "arthropathy brachydactyly", "familial digital arthropathy", "digital arthropathy brachydactyly", "familial digital arthropathy brachydactyly", "fdab", "brachydactyly familial", "arthropathy brachydactyly familial", "digital arthropathy brachydactyly familial" ] }, { "record_id": "MONDO:0011732", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011732", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hba0", "q9hba0 1", "trpv4_human", "np_001170899", "glycoprotein", "trpv4", "bcym3", "cmt2c", "hmsn2c", "otrpc4", "smal", "spsma", "ssqtl1", "trp12", "vrl2", "vroac" ] }, { "record_id": "MONDO:0011732", "record_type": "disease", "section": "proteins", "phraselist": [ "transient", "receptor", "potential", "cation", "channel", "subfamily", "member", "transient receptor", "receptor potential", "potential cation", "cation channel", "channel subfamily", "subfamily v", "v member", "member 4", "transient receptor potential", "receptor potential cation", "potential cation channel", "cation channel subfamily", "channel subfamily v", "subfamily v member", "v member 4", "transient receptor potential cation", "receptor potential cation channel", "potential cation channel subfamily", "cation channel subfamily v", "channel subfamily v member", "subfamily v member 4", "transient receptor potential cation channel", "receptor potential cation channel subfamily", "potential cation channel subfamily v", "cation channel subfamily v member", "channel subfamily v member 4", "osm9", "like", "osm9 like", "like transient", "potential 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"pancreatic carcinoma caused", "carcinoma caused by", "caused by mutation", "by mutation in", "mutation in palld", "familial pancreatic carcinoma caused", "pancreatic carcinoma caused by", "carcinoma caused by mutation", "caused by mutation in", "by mutation in palld", "familial pancreatic carcinoma caused by", "pancreatic carcinoma caused by mutation", "carcinoma caused by mutation in", "caused by mutation in palld", "type", "type 1", "to type", "susceptibility to type", "to type 1", "susceptibility to type 1", "cancer 1", "pancreatic cancer 1" ] }, { "record_id": "MONDO:0011739", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011739", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wx93", "q8wx93 1", "palld_human", "np_001159580", "glycoprotein", "palld", "cgi", "151", "cgi 151", "cgi151", "kiaa0992", "myn", "pnca1", "sih002" ] }, { "record_id": "MONDO:0011739", "record_type": "disease", "section": "proteins", "phraselist": [ "palladin", "sih002", "sarcoma", "antigen", "ny", "sar", "77", "sarcoma antigen", "antigen ny", "ny sar", "sar 77", "sarcoma antigen ny", "antigen ny sar", "ny sar 77", "sarcoma antigen ny sar", "antigen ny sar 77", "sarcoma antigen ny sar 77", "myoneurin", "isoform", "palladin isoform", "isoform 1", "palladin isoform 1" ] }, { "record_id": "MONDO:0011744", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0011744", "0011744", "mim:606893", "606893" ] }, { "record_id": "MONDO:0011744", "record_type": "disease", "section": "disease_name", "phraselist": [ "primary", "intraosseous", "venous", "malformation", "primary intraosseous", "intraosseous venous", "venous malformation", "primary intraosseous venous", "intraosseous venous malformation", "primary intraosseous venous malformation", "hemangioma", "intraosseous hemangioma", "osseous", "osseous venous", "osseous venous 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"disease_name", "phraselist": [ "multiple", "epiphyseal", "dysplasia", "al", "gazali", "type", "multiple epiphyseal", "epiphyseal dysplasia", "al gazali", "gazali type", "multiple epiphyseal dysplasia", "dysplasia al", "al gazali type", "epiphyseal dysplasia al", "dysplasia al gazali", "multiple epiphyseal dysplasia al", "epiphyseal dysplasia al gazali", "dysplasia al gazali type", "macrocephaly", "distinctive", "facies", "syndrome", "dysplasia macrocephaly", "macrocephaly distinctive", "distinctive facies", "facies syndrome", "epiphyseal dysplasia macrocephaly", "dysplasia macrocephaly distinctive", "macrocephaly distinctive facies", "distinctive facies syndrome", "multiple epiphyseal dysplasia macrocephaly", "epiphyseal dysplasia macrocephaly distinctive", "dysplasia macrocephaly distinctive facies", "macrocephaly distinctive facies syndrome", "multiple epiphyseal dysplasia macrocephaly distinctive", "epiphyseal dysplasia macrocephaly distinctive facies", "dysplasia macrocephaly distinctive facies syndrome", "agbk", "bakalinova", "gazali bakalinova", "bakalinova syndrome", "al gazali bakalinova", "gazali bakalinova syndrome", "al gazali bakalinova syndrome" ] }, { "record_id": "MONDO:0011778", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011778", "record_type": "disease", "section": "proteins", "phraselist": [ "q2m1p5", "q2m1p5 1", "kif7_human", "np_940927", "glycoprotein", "kif7", "acls", "agbk", "hls2", "jbts12", "mmedf", "pro539", "unq340" ] }, { "record_id": "MONDO:0011778", "record_type": "disease", "section": "proteins", "phraselist": [ "kinesin", "like", "protein", "kif7", "kinesin like", "like protein", "protein kif7", "kinesin like protein", "like protein kif7", "kinesin like protein kif7", "eqyk340" ] }, { "record_id": "MONDO:0011790", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0011790", "0011790", "mim:607196", "607196" ] }, { "record_id": "MONDO:0011790", "record_type": "disease", "section": "disease_name", "phraselist": [ "amish", "lethal", "microcephaly", "amish lethal", "lethal microcephaly", "amish lethal microcephaly", "mcpha", "type", "amish type", "microcephaly amish", "microcephaly amish type" ] }, { "record_id": "MONDO:0011790", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011790", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hc21", "q9hc21 1", "tpc_human", "np_001119593", "glycoprotein", "slc25a19", "dnc", "mcpha", "mtppt", "mup1", "thmd3", "thmd4", "tpc" ] }, { "record_id": "MONDO:0011790", "record_type": "disease", "section": "proteins", "phraselist": [ "mitochondrial", "thiamine", "pyrophosphate", "carrier", "mitochondrial thiamine", "thiamine pyrophosphate", "pyrophosphate carrier", "mitochondrial 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"disease_id", "phraselist": [ "mondo:0011946", "0011946", "mim:608022", "608022" ] }, { "record_id": "MONDO:0011946", "record_type": "disease", "section": "disease_name", "phraselist": [ "diaphanospondylodysostosis", "vertebral", "ossification", "defect", "in", "with", "nephrogenic", "rests", "vertebral ossification", "defect in", "with nephrogenic", "nephrogenic rests", "ossification defect", "in with", "with nephrogenic rests", "vertebral ossification defect", "ossification defect in", "defect in with", "in with nephrogenic", "vertebral ossification defect in", "defect in with nephrogenic", "in with nephrogenic rests" ] }, { "record_id": "MONDO:0011946", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011946", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n8u9", "q8n8u9 1", "bmper_human", "np_597725", "glycoprotein", "bmper", "crim3", "cv", "cv 2", "cv2", "kiaa1965" ] }, { "record_id": "MONDO:0011946", "record_type": "disease", "section": "proteins", "phraselist": [ "bmp", "binding", "endothelial", "regulator", "protein", "bmp binding", "binding endothelial", "endothelial regulator", "regulator protein", "bmp binding endothelial", "binding endothelial regulator", "endothelial regulator protein", "bmp binding endothelial regulator", "binding endothelial regulator protein", "bmp binding endothelial regulator protein", "precursor", "regulator precursor", "precursor protein", "endothelial regulator precursor", "regulator precursor protein", "binding endothelial regulator precursor", "endothelial regulator precursor protein", "bmp binding endothelial regulator precursor", "binding endothelial regulator precursor protein", "isoform", "protein isoform", "isoform a", "a precursor", "regulator protein isoform", "protein isoform a", "isoform a precursor", "endothelial regulator protein isoform", "regulator protein 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"endothelial cell precursor derived regulator", "crossveinless", "protein crossveinless", "crossveinless 2", "protein crossveinless 2", "hcv2" ] }, { "record_id": "MONDO:0011953", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0011953", "0011953", "mim:608033", "608033" ] }, { "record_id": "MONDO:0011953", "record_type": "disease", "section": "disease_name", "phraselist": [ "familial", "acute", "necrotizing", "encephalopathy", "familial acute", "acute necrotizing", "necrotizing encephalopathy", "familial acute necrotizing", "acute necrotizing encephalopathy", "familial acute necrotizing encephalopathy", "adane", "infection", "induced", "susceptibility", "to", "infection induced", "susceptibility to", "encephalopathy acute", "acute infection", "induced 3", "3 susceptibility", "acute infection induced", "infection induced 3", "3 susceptibility to", "encephalopathy acute infection", "induced 3 susceptibility", "type", "type 3", "induced susceptibility", "to 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"susceptibility to acute necrotizing encephalopathy", "to infection", "susceptibility to infection", "to infection induced", "susceptibility to infection induced", "to infection induced acute", "susceptibility to infection induced acute", "to infection induced acute encephalopathy" ] }, { "record_id": "MONDO:0011953", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011953", "record_type": "disease", "section": "proteins", "phraselist": [ "p49792", "p49792 1", "rbp2_human", "np_006258", "glycoprotein", "ranbp2", "adane", "ane1", "iiae3", "nup358", "trp1", "trp2" ] }, { "record_id": "MONDO:0011953", "record_type": "disease", "section": "proteins", "phraselist": [ "e3", "sumo", "protein", "ligase", "ranbp2", "e3 sumo", "sumo protein", "protein ligase", "ligase ranbp2", "e3 sumo protein", "sumo protein ligase", "protein ligase ranbp2", "e3 sumo protein 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"periventricular heterotopia", "heterotopia with", "with microcephaly", "autosomal recessive", "periventricular heterotopia with", "heterotopia with microcephaly", "microcephaly autosomal", "periventricular heterotopia with microcephaly", "with microcephaly autosomal", "microcephaly autosomal recessive", "heterotopia with microcephaly autosomal", "with microcephaly autosomal recessive", "arphm", "nodular", "periventricular nodular", "nodular heterotopia", "heterotopia 2", "periventricular nodular heterotopia", "nodular heterotopia 2", "periventricular nodular heterotopia 2" ] }, { "record_id": "MONDO:0011966", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011966", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y6d5", "q9y6d5 1", "big2_human", "np_006411", "glycoprotein", "arfgef2", "arfgep2", "big2", "pvnh2", "dj1164i10.1" ] }, { "record_id": "MONDO:0011966", "record_type": "disease", "section": "proteins", "phraselist": [ "brefeldin", "inhibited", "guanine", "nucleotide", "exchange", "protein", "brefeldin a", "a inhibited", "inhibited guanine", "guanine nucleotide", "nucleotide exchange", "exchange protein", "protein 2", "brefeldin a inhibited", "a inhibited guanine", "inhibited guanine nucleotide", "guanine nucleotide exchange", "nucleotide exchange protein", "exchange protein 2", "brefeldin a inhibited guanine", "a inhibited guanine nucleotide", "inhibited guanine nucleotide exchange", "guanine nucleotide exchange protein", "nucleotide exchange protein 2", "brefeldin a inhibited guanine nucleotide", "a inhibited guanine nucleotide exchange", "inhibited guanine nucleotide exchange protein", "guanine nucleotide exchange protein 2", "adp", "ribosylation", "factor", "adp ribosylation", "ribosylation factor", "factor guanine", "exchange factor", "factor 2", "adp ribosylation factor", "ribosylation factor 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"disease", "section": "disease_id", "phraselist": [ "mondo:0011973", "0011973", "mim:608118", "608118" ] }, { "record_id": "MONDO:0011973", "record_type": "disease", "section": "disease_name", "phraselist": [ "zinc", "deficiency", "transient", "neonatal", "zinc deficiency", "transient neonatal", "deficiency transient", "zinc deficiency transient", "deficiency transient neonatal", "zinc deficiency transient neonatal", "tnzd" ] }, { "record_id": "MONDO:0011973", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011973", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bri3", "q9bri3 2", "znt2_human", "np_001004434", "slc30a2", "pp12488", "tnzd", "znt2", "znt", "znt 2" ] }, { "record_id": "MONDO:0011973", "record_type": "disease", "section": "proteins", "phraselist": [ "proton", "coupled", "zinc", "antiporter", "slc30a2", "proton coupled", 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"carrier family 30 zinc", "family 30 zinc transporter", "zinc transporter member", "transporter member 2" ] }, { "record_id": "MONDO:0011982", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0011982", "0011982", "mim:608175", "608175" ] }, { "record_id": "MONDO:0011982", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoimmune", "thyroid", "disease", "susceptibility", "to", "autoimmune thyroid", "thyroid disease", "susceptibility to", "autoimmune thyroid disease", "disease susceptibility", "to 3", "thyroid disease susceptibility", "disease susceptibility to", "susceptibility to 3", "autoimmune thyroid disease susceptibility", "thyroid disease susceptibility to", "type", "type 3", "to type", "susceptibility to type", "to type 3", "susceptibility to type 3", "aitd3", "disease 3", "thyroid disease 3", "autoimmune thyroid disease 3" ] }, { "record_id": "MONDO:0011982", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011982", "record_type": "disease", "section": "proteins", "phraselist": [ "p01266", "p01266 1", "thyg_human", "np_003226", "glycoprotein", "tg", "aitd3", "tgn" ] }, { "record_id": "MONDO:0011982", "record_type": "disease", "section": "proteins", "phraselist": [ "thyroglobulin", "tg", "precursor", "thyroglobulin precursor", "thyroid", "hormones", "thyroid hormones" ] }, { "record_id": "MONDO:0011986", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0011986", "0011986", "mim:608189", "608189" ] }, { "record_id": "MONDO:0011986", "record_type": "disease", "section": "disease_name", "phraselist": [ "tropical", "pancreatitis", "tropical pancreatitis", "tcp", "calcific", "chronic", "tropical calcific", "calcific chronic", "chronic pancreatitis", "tropical calcific chronic", "calcific chronic pancreatitis", "tropical calcific chronic pancreatitis", "calcific pancreatitis", "tropical calcific pancreatitis" ] }, { "record_id": "MONDO:0011986", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0011986", "record_type": "disease", "section": "proteins", "phraselist": [ "p00995", "p00995 1", "isk1_human", "np_003113", "spink1", "pctt", "psti", "spink3", "tati", "tcp" ] }, { "record_id": "MONDO:0011986", "record_type": "disease", "section": "proteins", "phraselist": [ "serine", "protease", "inhibitor", "kazal", "type", "serine protease", "protease inhibitor", "inhibitor kazal", "kazal type", "type 1", "serine protease inhibitor", "protease inhibitor kazal", "inhibitor kazal type", "kazal type 1", "serine protease inhibitor kazal", "protease inhibitor kazal type", "inhibitor kazal type 1", "serine protease inhibitor kazal type", "protease inhibitor kazal type 1", "pancreatic", "secretory", "trypsin", "pancreatic 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guanine", "guanine nucleotide", "nucleotide exchange", "exchange factor", "factor 10", "rho guanine nucleotide", "guanine nucleotide exchange", "nucleotide exchange factor", "exchange factor 10", "rho guanine nucleotide exchange", "guanine nucleotide exchange factor", "nucleotide exchange factor 10", "rho guanine nucleotide exchange factor", "guanine nucleotide exchange factor 10", "gef", "factor gef", "gef 10", "exchange factor gef", "nucleotide exchange factor gef", "factor gef 10", "isoform", "10 isoform", "isoform 2", "factor 10 isoform", "10 isoform 2", "exchange factor 10 isoform", "factor 10 isoform 2", "nucleotide exchange factor 10 isoform", "exchange factor 10 isoform 2" ] }, { "record_id": "MONDO:0012039", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0012039", "0012039", "mim:608446", "608446" ] }, { "record_id": "MONDO:0012039", "record_type": "disease", "section": "disease_name", "phraselist": [ "myocardial", "infarction", "susceptibility", 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"phraselist": [ "low", "density", "lipoprotein", "receptor", "related", "protein", "low density", "density lipoprotein", "lipoprotein receptor", "receptor related", "related protein", "protein 8", "low density lipoprotein", "density lipoprotein receptor", "lipoprotein receptor related", "receptor related protein", "related protein 8", "low density lipoprotein receptor", "density lipoprotein receptor related", "lipoprotein receptor related protein", "receptor related protein 8", "low density lipoprotein receptor related", "density lipoprotein receptor related protein", "lipoprotein receptor related protein 8", "apoe", "apoe receptor", "receptor 2", "apoe receptor 2", "apolipoprotein", "apolipoprotein e", "e receptor", "apolipoprotein e receptor", "e receptor 2", "apolipoprotein e receptor 2", "lrp", "lrp 8", "8 apolipoprotein", "protein 8 apolipoprotein", "8 apolipoprotein e", "related protein 8 apolipoprotein", "protein 8 apolipoprotein e", "8 apolipoprotein e receptor", "isoform", "precursor", "8 isoform", "isoform 4", "4 precursor", "protein 8 isoform", "8 isoform 4", "isoform 4 precursor", "related protein 8 isoform", "protein 8 isoform 4", "8 isoform 4 precursor", "receptor related protein 8 isoform", "related protein 8 isoform 4", "protein 8 isoform 4 precursor" ] }, { "record_id": "MONDO:0012044", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0012044", "0012044", "mim:608471", "608471" ] }, { "record_id": "MONDO:0012044", "record_type": "disease", "section": "disease_name", "phraselist": [ "corneal", "dystrophy", "lattice", "type", "3a", "corneal dystrophy", "lattice type", "type 3a", "dystrophy lattice", "lattice type 3a", "corneal dystrophy lattice", "dystrophy lattice type", "corneal dystrophy lattice type", "dystrophy lattice type 3a", "cdl3a", "iiia", "type iiia", "lattice type iiia", "dystrophy lattice type iiia", "lattice corneal", "dystrophy type", "lattice corneal dystrophy", "corneal dystrophy type", "dystrophy type 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{ "record_id": "MONDO:0012183", "record_type": "disease", "section": "proteins", "phraselist": [ "cyclin", "dependent", "kinase", "cyclin dependent", "dependent kinase", "kinase 4", "cyclin dependent kinase", "dependent kinase 4", "cyclin dependent kinase 4", "2.7.11.22", "cell", "division", "protein", "cell division", "division protein", "protein kinase", "cell division protein", "division protein kinase", "protein kinase 4", "cell division protein kinase", "division protein kinase 4", "cell division protein kinase 4", "psk", "j3", "psk j3" ] }, { "record_id": "MONDO:0012190", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0012190", "0012190", "mim:609057", "609057" ] }, { "record_id": "MONDO:0012190", "record_type": "disease", "section": "disease_name", "phraselist": [ "epidermolysis", "bullosa", "simplex", "with", "nephropathy", "and", "deafness", "epidermolysis bullosa", "bullosa simplex", "simplex 7", "with nephropathy", "nephropathy and", "and 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"endothelial cell tetraspan antigen", "cell tetraspan antigen 3", "platelet endothelial cell tetraspan antigen", "endothelial cell tetraspan antigen 3" ] }, { "record_id": "MONDO:0012192", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0012192", "0012192", "mim:609069", "609069" ] }, { "record_id": "MONDO:0012192", "record_type": "disease", "section": "disease_name", "phraselist": [ "permanent", "neonatal", "diabetes", "mellitus", "pancreatic", "and", "cerebellar", "agenesis", "syndrome", "permanent neonatal", "neonatal diabetes", "diabetes mellitus", "mellitus pancreatic", "pancreatic and", "and cerebellar", "cerebellar agenesis", "agenesis syndrome", "permanent neonatal diabetes", "neonatal diabetes mellitus", "diabetes mellitus pancreatic", "mellitus pancreatic and", "pancreatic and cerebellar", "and cerebellar agenesis", "cerebellar agenesis syndrome", "permanent neonatal diabetes mellitus", "neonatal diabetes mellitus pancreatic", "diabetes mellitus 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urogenital malformation syndrome", "b cell immunodeficiency limb anomaly", "cell immunodeficiency limb anomaly urogenital", "immunodeficiency limb anomaly urogenital malformation", "limb anomaly urogenital malformation syndrome", "bilu", "bilu syndrome", "hoffman", "hoffman syndrome" ] }, { "record_id": "MONDO:0012243", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0012243", "record_type": "disease", "section": "proteins", "phraselist": [ "q02880", "q02880 1", "top2b_human", "np_001059", "glycoprotein", "top2b", "bilu", "topiib", "top2beta" ] }, { "record_id": "MONDO:0012243", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "topoisomerase", "beta", "dna topoisomerase", "topoisomerase 2", "2 beta", "dna topoisomerase 2", "topoisomerase 2 beta", "dna topoisomerase 2 beta", "5.6.2.2", "isoform", "beta isoform", "isoform 2", "2 beta 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"MONDO:0012258", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0012258", "record_type": "disease", "section": "proteins", "phraselist": [ "p13647", "p13647 1", "k2c5_human", "np_000415", "glycoprotein", "krt5", "ck5", "ddd1", "ddd", "ebs1", "ebs2a", "ebs2b", "ebs2c", "ebs2d", "ebs2e", "ebs2f", "ebs2", "k5", "krt5a" ] }, { "record_id": "MONDO:0012258", "record_type": "disease", "section": "proteins", "phraselist": [ "keratin", "type", "ii", "cytoskeletal", "type ii", "ii cytoskeletal", "cytoskeletal 5", "keratin type", "type ii cytoskeletal", "ii cytoskeletal 5", "keratin type ii", "type ii cytoskeletal 5", "keratin type ii cytoskeletal", "58", "kda", "cytokeratin", "58 kda", "kda cytokeratin", "58 kda cytokeratin", "ck", "ck 5", "cytokeratin 5", "k5", "keratin 5", "kb5", "ii keratin", "keratin kb5", "type ii keratin", "ii keratin kb5", "type ii keratin 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"5 epidermolysis bullosa simplex", "epidermolysis bullosa simplex dowling", "bullosa simplex dowling meara/kobner/weber", "simplex dowling meara/kobner/weber cockayne", "5 type", "keratin 5 type", "5 type ii", "keratin 5 type ii" ] }, { "record_id": "MONDO:0012271", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0012271", "0012271", "mim:609432", "609432" ] }, { "record_id": "MONDO:0012271", "record_type": "disease", "section": "disease_name", "phraselist": [ "mesoaxial", "synostotic", "syndactyly", "with", "phalangeal", "reduction", "mesoaxial synostotic", "synostotic syndactyly", "syndactyly with", "with phalangeal", "phalangeal reduction", "mesoaxial synostotic syndactyly", "synostotic syndactyly with", "syndactyly with phalangeal", "with phalangeal reduction", "mesoaxial synostotic syndactyly with", "synostotic syndactyly with phalangeal", "syndactyly with phalangeal reduction", "mesoaxial synostotic syndactyly with phalangeal", "synostotic syndactyly 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"galactosylxylosylprotein", "galactosylxylosylprotein 3", "3 beta", "beta galactosyltransferase", "galactosylxylosylprotein 3 beta", "3 beta galactosyltransferase", "galactosylxylosylprotein 3 beta galactosyltransferase", "udp", "gal:betagal", "udp gal:betagal", "gal:betagal beta", "udp gal:betagal beta", "gal:betagal beta 1", "udp gal:betagal beta 1", "gal:betagal beta 1 3", "udp gal:betagal beta 1 3", "gal:betagal beta 1 3 galactosyltransferase", "polypeptide", "galactosyltransferase polypeptide", "polypeptide 6", "3 galactosyltransferase polypeptide", "galactosyltransferase polypeptide 6", "1 3 galactosyltransferase polypeptide", "3 galactosyltransferase polypeptide 6", "beta 1 3 galactosyltransferase polypeptide", "1 3 galactosyltransferase polypeptide 6", "gal:betaglcnac", "udp gal:betaglcnac", "gal:betaglcnac beta", "udp gal:betaglcnac beta", "gal:betaglcnac beta 1", "udp gal:betaglcnac beta 1", "gal:betaglcnac beta 1 3", "udp gal:betaglcnac beta 1 3", "gal:betaglcnac beta 1 3 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"rhegmatogenous retinal detachment autosomal", "retinal detachment autosomal dominant", "rhegmatogenous retinal detachment autosomal dominant" ] }, { "record_id": "MONDO:0012287", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0012287", "record_type": "disease", "section": "proteins", "phraselist": [ "p02458", "p02458 2", "co2a1_human", "np_001835", "glycoprotein", "col2a1", "acg2", "anfh1", "anfh", "aom", "col11a3", "edmmd", "lcpd", "oscdp", "plsdt", "sedc", "sedstn", "semdstwk", "smdalg", "stl1", "vped" ] }, { "record_id": "MONDO:0012287", "record_type": "disease", "section": "proteins", "phraselist": [ "collagen", "alpha", "ii", "chain", "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", "type", "1 type", "type ii", "ii collagen", "alpha 1 type", "1 type ii", "type 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receptor like 14" ] }, { "record_id": "MONDO:0012323", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0012323", "0012323", "mim:609638", "609638" ] }, { "record_id": "MONDO:0012323", "record_type": "disease", "section": "disease_name", "phraselist": [ "lethal", "acantholytic", "epidermolysis", "bullosa", "lethal acantholytic", "acantholytic epidermolysis", "epidermolysis bullosa", "lethal acantholytic epidermolysis", "acantholytic epidermolysis bullosa", "lethal acantholytic epidermolysis bullosa", "laeb", "ebla", "bullosa lethal", "epidermolysis bullosa lethal", "bullosa lethal acantholytic", "epidermolysis bullosa lethal acantholytic" ] }, { "record_id": "MONDO:0012323", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0012323", "record_type": "disease", "section": "proteins", "phraselist": [ "p15924", "p15924 1", "desp_human", 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[ "q9y616", "q9y616 1", "irak3_human", "np_001135995", "glycoprotein", "irak3", "asrt5", "irakm" ] }, { "record_id": "MONDO:0012607", "record_type": "disease", "section": "proteins", "phraselist": [ "interleukin", "receptor", "associated", "kinase", "interleukin 1", "1 receptor", "receptor associated", "associated kinase", "kinase 3", "interleukin 1 receptor", "1 receptor associated", "receptor associated kinase", "associated kinase 3", "interleukin 1 receptor associated", "1 receptor associated kinase", "receptor associated kinase 3", "interleukin 1 receptor associated kinase", "1 receptor associated kinase 3", "il", "il 1", "kinase m", "il 1 receptor", "associated kinase m", "il 1 receptor associated", "receptor associated kinase m", "il 1 receptor associated kinase", "1 receptor associated kinase m", "irak", "irak 3", "irak m", "inactive", "inactive il", "inactive il 1", "inactive il 1 receptor", "inactive il 1 receptor associated", "isoform", "3 isoform", "isoform b", "kinase 3 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"q6pi48", "q6pi48 1", "sydm_human", "np_060592", "glycoprotein", "dars2", "asprs", "cmt2ll", "lbsl", "mt", "mt asprs", "mtasprs" ] }, { "record_id": "MONDO:0012622", "record_type": "disease", "section": "proteins", "phraselist": [ "aspartate", "trna", "ligase", "mitochondrial", "trna ligase", "aspartate trna", "ligase mitochondrial", "aspartate trna ligase", "trna ligase mitochondrial", "6.1.1.12", "asprs", "aspartyl", "synthetase", "aspartyl trna", "trna synthetase", "aspartyl trna synthetase", "ligase 2", "trna ligase 2", "2 mitochondrial", "aspartate trna ligase 2", "ligase 2 mitochondrial", "trna ligase 2 mitochondrial", "isoform", "mitochondrial isoform", "isoform 1", "mitochondrial isoform 1", "ligase mitochondrial isoform", "trna ligase mitochondrial isoform", "ligase mitochondrial isoform 1", "synthetase mitochondrial", "trna synthetase mitochondrial", "aspartyl trna synthetase mitochondrial" ] }, { "record_id": "MONDO:0012634", "record_type": "disease", "section": 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protein", "protein 9", "btb/poz domain containing", "domain containing protein", "containing protein 9", "btb/poz domain containing protein", "domain containing protein 9", "btb/poz domain containing protein 9", "btb", "poz", "containing 9", "btb poz", "poz domain", "domain containing 9", "poz domain containing", "btb poz domain", "poz domain containing 9", "isoform", "9 isoform", "isoform a", "protein 9 isoform", "9 isoform a", "containing protein 9 isoform", "protein 9 isoform a", "domain containing protein 9 isoform", "containing protein 9 isoform a" ] }, { "record_id": "MONDO:0012648", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0012648", "0012648", "mim:611283", "611283" ] }, { "record_id": "MONDO:0012648", "record_type": "disease", "section": "disease_name", "phraselist": [ "isobutyryl", "coa", "dehydrogenase", "deficiency", "isobutyryl coa", "coa dehydrogenase", "dehydrogenase deficiency", "isobutyryl coa dehydrogenase", "coa dehydrogenase 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"barrett", "esophagus", "and", "cardiac", "abnormalities", "pseudoobstruction chronic", "chronic idiopathic", "idiopathic intestinal", "intestinal with", "with barrett", "barrett esophagus", "esophagus and", "and cardiac", "cardiac abnormalities", "pseudoobstruction chronic idiopathic", "chronic idiopathic intestinal", "idiopathic intestinal with", "intestinal with barrett", "with barrett esophagus", "barrett esophagus and", "esophagus and cardiac", "and cardiac abnormalities", "pseudoobstruction chronic idiopathic intestinal", "chronic idiopathic intestinal with", "idiopathic intestinal with barrett", "intestinal with barrett esophagus", "with barrett esophagus and", "barrett esophagus and cardiac", "esophagus and cardiac abnormalities", "pseudoobstruction chronic idiopathic intestinal with", "chronic idiopathic intestinal with barrett", "idiopathic intestinal with barrett esophagus", "intestinal with barrett esophagus and", "with barrett esophagus and cardiac", "barrett esophagus and cardiac abnormalities", "oesophagus", "barrett oesophagus", "oesophagus and", "with barrett oesophagus", "barrett oesophagus and", "oesophagus and cardiac", "intestinal with barrett oesophagus", "with barrett oesophagus and", "barrett oesophagus and cardiac", "oesophagus and cardiac abnormalities", "idiopathic intestinal with barrett oesophagus", "intestinal with barrett oesophagus and", "with barrett oesophagus and cardiac", "barrett oesophagus and cardiac abnormalities", "visceral", "neuromyopathy", "familial", "megaduodenum", "visceral neuromyopathy", "neuromyopathy familial", "familial with", "with pseudoobstruction", "pseudoobstruction megaduodenum", "megaduodenum barrett", "visceral neuromyopathy familial", "neuromyopathy familial with", "familial with pseudoobstruction", "with pseudoobstruction megaduodenum", "pseudoobstruction megaduodenum barrett", "megaduodenum barrett esophagus", "visceral neuromyopathy familial with", "neuromyopathy familial with pseudoobstruction", "familial with pseudoobstruction megaduodenum", "with pseudoobstruction megaduodenum barrett", "pseudoobstruction megaduodenum barrett esophagus", "megaduodenum barrett esophagus and", "visceral neuromyopathy familial with pseudoobstruction", "neuromyopathy familial with pseudoobstruction megaduodenum", "familial with pseudoobstruction megaduodenum barrett", "with pseudoobstruction megaduodenum barrett esophagus", "pseudoobstruction megaduodenum barrett esophagus and", "megaduodenum barrett esophagus and cardiac", "megaduodenum barrett oesophagus", "pseudoobstruction megaduodenum barrett oesophagus", "megaduodenum barrett oesophagus and", "with pseudoobstruction megaduodenum barrett oesophagus", "pseudoobstruction megaduodenum barrett oesophagus and", "megaduodenum barrett oesophagus and cardiac" ] }, { "record_id": "MONDO:0012657", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] 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"calvarial hyperostosis", "insufficiency dyserythropoietic", "anemia calvarial", "calvarial hyperostosis syndrome", "pancreatic insufficiency dyserythropoietic", "insufficiency dyserythropoietic anemia", "dyserythropoietic anemia calvarial", "anemia calvarial hyperostosis", "pancreatic insufficiency dyserythropoietic anemia", "dyserythropoietic anemia calvarial hyperostosis", "anemia calvarial hyperostosis syndrome", "exocrine", "and", "exocrine pancreatic", "anemia and", "and calvarial", "exocrine pancreatic insufficiency", "dyserythropoietic anemia and", "anemia and calvarial", "and calvarial hyperostosis", "exocrine pancreatic insufficiency dyserythropoietic", "insufficiency dyserythropoietic anemia and", "dyserythropoietic anemia and calvarial", "anemia and calvarial hyperostosis", "exocrine pancreatic insufficiency dyserythropoietic anemia", "pancreatic insufficiency dyserythropoietic anemia and", "insufficiency dyserythropoietic anemia and calvarial", "dyserythropoietic anemia and calvarial hyperostosis" ] }, { "record_id": "MONDO:0012992", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0012992", "record_type": "disease", "section": "proteins", "phraselist": [ "q96kj9", "q96kj9 1", "cox42_human", "np_115998", "glycoprotein", "cox4i2", "cox4", "cox4 2", "cox4b", "cox4l2", "coxiv", "coxiv 2", "dj857m17.2" ] }, { "record_id": "MONDO:0012992", "record_type": "disease", "section": "proteins", "phraselist": [ "cytochrome", "oxidase", "subunit", "isoform", "mitochondrial", "cytochrome c", "c oxidase", "oxidase subunit", "subunit 4", "4 isoform", "isoform 2", "cytochrome c oxidase", "c oxidase subunit", "oxidase subunit 4", "subunit 4 isoform", "4 isoform 2", "2 mitochondrial", "cytochrome c oxidase subunit", "c oxidase subunit 4", "oxidase subunit 4 isoform", "subunit 4 isoform 2", "isoform 2 mitochondrial", "cytochrome c oxidase 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"species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013013", "record_type": "disease", "section": "proteins", "phraselist": [ "p05305", "p05305 1", "edn1_human", "np_001161791", "glycoprotein", "edn1", "arcnd3", "et1", "hdlcq7", "ppet1", "qme" ] }, { "record_id": "MONDO:0013013", "record_type": "disease", "section": "proteins", "phraselist": [ "endothelin", "endothelin 1", "ppet1", "preproendothelin", "preproendothelin 1", "isoform", "preproprotein", "1 isoform", "isoform 2", "2 preproprotein", "endothelin 1 isoform", "1 isoform 2", "isoform 2 preproprotein", "endothelin 1 isoform 2", "1 isoform 2 preproprotein", "endothelin 1 isoform 2 preproprotein" ] }, { "record_id": "MONDO:0013014", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013014", "0013014", "mim:612813", "612813" ] }, { "record_id": "MONDO:0013014", "record_type": "disease", "section": "disease_name", "phraselist": [ "spondyloepimetaphyseal", "dysplasia", "aggrecan", "type", "spondyloepimetaphyseal dysplasia", "aggrecan type", "dysplasia aggrecan", "spondyloepimetaphyseal dysplasia aggrecan", "dysplasia aggrecan type", "spondyloepimetaphyseal dysplasia aggrecan type", "semd", "semd aggrecan", "semd aggrecan type", "semdag" ] }, { "record_id": "MONDO:0013014", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013014", "record_type": "disease", "section": "proteins", "phraselist": [ "p16112", "p16112 1", "pgca_human", "np_037359", "glycoprotein", "acan", "agc1", "agcan", "cspg1", "cspgcp", "msk16", "sedk", "ssoaod" ] }, { "record_id": "MONDO:0013014", "record_type": "disease", "section": "proteins", "phraselist": [ "aggrecan", "core", "protein", "aggrecan core", "core protein", "aggrecan core protein", "cspcp", "cartilage", "specific", "proteoglycan", "cartilage specific", "specific proteoglycan", "proteoglycan core", "cartilage specific proteoglycan", "specific proteoglycan core", "proteoglycan core protein", "cartilage specific proteoglycan core", "specific proteoglycan core protein", "cartilage specific proteoglycan core protein", "chondroitin", "sulfate", "chondroitin sulfate", "sulfate proteoglycan", "proteoglycan 1", "chondroitin sulfate proteoglycan", "sulfate proteoglycan 1", "chondroitin sulfate proteoglycan 1", "protein 1", "sulfate proteoglycan core", "core protein 1", "chondroitin sulfate proteoglycan core", "sulfate proteoglycan core protein", "proteoglycan core protein 1", "chondroitin sulfate proteoglycan core protein", "sulfate proteoglycan core protein 1", "isoform", "precursor", "protein isoform", "isoform 2", "2 precursor", "core protein isoform", "protein isoform 2", "isoform 2 precursor", "aggrecan core protein isoform", "core protein isoform 2", "protein isoform 2 precursor", "aggrecan core protein isoform 2", "core protein isoform 2 precursor", "large", "aggregating", "large aggregating", "aggregating proteoglycan", "large aggregating proteoglycan" ] }, { "record_id": "MONDO:0013019", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013019", "0013019" ] }, { "record_id": "MONDO:0013019", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "spondyloepimetaphyseal", "dysplasia", "pakistani", "type", "obsolete spondyloepimetaphyseal", "spondyloepimetaphyseal dysplasia", "pakistani type", "obsolete spondyloepimetaphyseal dysplasia", "dysplasia pakistani", "spondyloepimetaphyseal dysplasia pakistani", "dysplasia pakistani type", "obsolete spondyloepimetaphyseal dysplasia pakistani", "spondyloepimetaphyseal dysplasia pakistani type" ] }, { "record_id": "MONDO:0013019", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013019", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013019", "record_type": "disease", "section": "proteins", "phraselist": [ "o95340", "o95340 1", "paps2_human", "np_001015880", "glycoprotein", "papss2", "atpsk2", "bcym4", "sk2", "q96l58", "q96l58 1", "b3gt6_human", "np_542172", "b3galt6", "algaz", "edsp2", "edsspd2", "semdjl1", "beta3galt6" ] }, { "record_id": "MONDO:0013019", "record_type": "disease", "section": "proteins", "phraselist": [ "bifunctional", "3'", "phosphoadenosine", "5'", "phosphosulfate", "synthase", "bifunctional 3'", "3' phosphoadenosine", "phosphoadenosine 5'", "5' phosphosulfate", "phosphosulfate synthase", "synthase 2", "bifunctional 3' phosphoadenosine", "3' phosphoadenosine 5'", "phosphoadenosine 5' phosphosulfate", "5' phosphosulfate synthase", "phosphosulfate synthase 2", "bifunctional 3' phosphoadenosine 5'", "3' phosphoadenosine 5' phosphosulfate", "phosphoadenosine 5' phosphosulfate synthase", "5' phosphosulfate synthase 2", "bifunctional 3' phosphoadenosine 5' phosphosulfate", "3' phosphoadenosine 5' phosphosulfate synthase", "phosphoadenosine 5' phosphosulfate synthase 2", "prime", "3 prime", "prime phosphoadenosine", "phosphoadenosine 5", "5 prime", "prime phosphosulfate", "3 prime phosphoadenosine", "prime phosphoadenosine 5", "phosphoadenosine 5 prime", "5 prime phosphosulfate", "prime phosphosulfate synthase", "3 prime phosphoadenosine 5", "prime phosphoadenosine 5 prime", "phosphoadenosine 5 prime phosphosulfate", "5 prime phosphosulfate synthase", "prime phosphosulfate synthase 2", "3 prime phosphoadenosine 5 prime", "prime phosphoadenosine 5 prime phosphosulfate", "phosphoadenosine 5 prime phosphosulfate synthase", "5 prime phosphosulfate synthase 2", "aps", "kinase", "aps kinase", "atp", "sulfurylase/aps", "atp sulfurylase/aps", "sulfurylase/aps kinase", "kinase 2", "atp sulfurylase/aps kinase", "sulfurylase/aps kinase 2", "atp sulfurylase/aps kinase 2", "sulfurylase/adenosine", "atp sulfurylase/adenosine", "sulfurylase/adenosine 5'", "phosphosulfate kinase", "atp sulfurylase/adenosine 5'", "sulfurylase/adenosine 5' phosphosulfate", "5' phosphosulfate kinase", "atp sulfurylase/adenosine 5' phosphosulfate", "sulfurylase/adenosine 5' phosphosulfate kinase", "atp sulfurylase/adenosine 5' phosphosulfate kinase", "sulfurylase", "atp sulfurylase", "adenosine", "phosphotransferase", "adenosine 5'", "phosphosulfate 3'", "3' phosphotransferase", "adenosine 5' phosphosulfate", "5' phosphosulfate 3'", "phosphosulfate 3' phosphotransferase", "adenosine 5' phosphosulfate 3'", "5' phosphosulfate 3' phosphotransferase", "adenosine 5' phosphosulfate 3' phosphotransferase", "adenylylsulfate", "adenylylsulfate 3'", "adenylylsulfate 3' phosphotransferase", "paps", "paps synthase", "paps synthase 2", "synthetase", "paps synthetase", "synthetase 2", "paps synthetase 2", "papss", "papss 2", "sat", "sk", "sk 2", "sk2", "sulfate", "adenylate", "transferase", "sulfate adenylate", "adenylate transferase", "sulfate adenylate transferase", "sulfurylase kinase", "sulfurylase kinase 2", "adenylyl", "adenylyl sulfate", "sulfate kinase", "adenylyl sulfate kinase", "isoform", "2 isoform", "isoform b", "synthase 2 isoform", "2 isoform b", "phosphosulfate synthase 2 isoform", "synthase 2 isoform b", "5' phosphosulfate synthase 2 isoform", "phosphosulfate synthase 2 isoform b", "synthethase", "phosphosulfate synthethase", "synthethase 2", "5' phosphosulfate synthethase", "phosphosulfate synthethase 2", "phosphoadenosine 5' phosphosulfate synthethase", "5' phosphosulfate synthethase 2", "3' phosphoadenosine 5' phosphosulfate synthethase", "phosphoadenosine 5' phosphosulfate synthethase 2", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "adenylyltransferase", "sulfate adenylyltransferase", "beta", "galactosyltransferase", "beta 1", "1 3", "3 galactosyltransferase", "galactosyltransferase 6", "beta 1 3", "1 3 galactosyltransferase", "3 galactosyltransferase 6", "beta 1 3 galactosyltransferase", "1 3 galactosyltransferase 6", "beta 1 3 galactosyltransferase 6", "2.4.1.134", "galtase", "3 galtase", "galtase 6", "1 3 galtase", "3 galtase 6", "beta 1 3 galtase", "1 3 galtase 6", "beta 1 3 galtase 6", "beta3gal", "t6", "beta3gal t6", "beta3galt6", "gag", "galtii", "gag galtii", "ii", "galactosyltransferase ii", "galactosylxylosylprotein", "galactosylxylosylprotein 3", "3 beta", "beta galactosyltransferase", "galactosylxylosylprotein 3 beta", "3 beta galactosyltransferase", "galactosylxylosylprotein 3 beta galactosyltransferase", "udp", "gal:betagal", "udp gal:betagal", "gal:betagal beta", "udp gal:betagal beta", "gal:betagal beta 1", "udp gal:betagal beta 1", "gal:betagal beta 1 3", "udp gal:betagal beta 1 3", "gal:betagal beta 1 3 galactosyltransferase", "polypeptide", "galactosyltransferase polypeptide", "polypeptide 6", "3 galactosyltransferase polypeptide", "galactosyltransferase polypeptide 6", "1 3 galactosyltransferase polypeptide", "3 galactosyltransferase polypeptide 6", "beta 1 3 galactosyltransferase polypeptide", "1 3 galactosyltransferase polypeptide 6", "gal:betaglcnac", "udp gal:betaglcnac", "gal:betaglcnac beta", "udp gal:betaglcnac beta", "gal:betaglcnac beta 1", "udp gal:betaglcnac beta 1", "gal:betaglcnac beta 1 3", "udp gal:betaglcnac beta 1 3", "gal:betaglcnac beta 1 3 galactosyltransferase", "precursor", "6 precursor", "galactosyltransferase 6 precursor", "3 galactosyltransferase 6 precursor", "1 3 galactosyltransferase 6 precursor" ] }, { "record_id": "MONDO:0013022", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013022", "0013022", "mim:612853", "612853" ] }, { "record_id": "MONDO:0013022", "record_type": "disease", "section": "disease_name", "phraselist": [ "restless", "legs", "syndrome", "susceptibility", "to", "restless legs", "legs syndrome", "susceptibility to", "restless legs syndrome", "syndrome susceptibility", "to 7", "legs syndrome susceptibility", "syndrome susceptibility to", "susceptibility to 7", "restless legs syndrome susceptibility", "legs syndrome susceptibility to", "rls7", "syndrome 7", "legs syndrome 7", "restless legs syndrome 7" ] }, { "record_id": "MONDO:0013022", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013022", "record_type": "disease", "section": "proteins", "phraselist": [ "o00470", "o00470 1", "meis1_human", "np_002389", "glycoprotein", "meis1" ] }, { "record_id": "MONDO:0013022", "record_type": "disease", "section": "proteins", "phraselist": [ "homeobox", "protein", "meis1", "homeobox protein", "protein meis1", "homeobox protein meis1", "myeloid", "ecotropic", "viral", "integration", "site", "homolog", "myeloid ecotropic", "ecotropic viral", "viral integration", "integration site", "site 1", "1 homolog", "meis1 myeloid", "myeloid ecotropic viral", "ecotropic viral integration", "viral integration site", "integration site 1", "site 1 homolog", "meis1 myeloid ecotropic", "myeloid ecotropic viral integration", "ecotropic viral integration site", "viral integration site 1", "integration site 1 homolog", "meis1 myeloid ecotropic viral", "myeloid ecotropic viral integration site", "ecotropic viral integration site 1", "viral integration site 1 homolog", "wugsc:h_nh0444b04.1", "leukemogenic", "leukemogenic homolog", "homolog protein", "leukemogenic homolog protein" ] }, { "record_id": "MONDO:0013040", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013040", "0013040", "mim:612922", "612922" ] }, { "record_id": "MONDO:0013040", "record_type": "disease", "section": "disease_name", "phraselist": [ "atypical", "hemolytic", "uremic", "syndrome", "with", "mcp/cd46", "anomaly", "atypical hemolytic", "hemolytic uremic", "uremic syndrome", "syndrome with", "with mcp/cd46", "mcp/cd46 anomaly", "atypical hemolytic uremic", "hemolytic uremic syndrome", "uremic syndrome with", "syndrome with mcp/cd46", "with mcp/cd46 anomaly", "atypical hemolytic uremic syndrome", "hemolytic uremic syndrome with", "uremic syndrome with mcp/cd46", "syndrome with mcp/cd46 anomaly", "atypical hemolytic uremic syndrome with", "hemolytic uremic syndrome with mcp/cd46", "uremic syndrome with mcp/cd46 anomaly", "hus", "d hus", "hus with", "d hus with", "hus with mcp/cd46", "d hus with mcp/cd46", "hus with mcp/cd46 anomaly", "d hus with mcp/cd46 anomaly", "ahus", "ahus with", "ahus with mcp/cd46", "ahus with mcp/cd46 anomaly", "atypical hus", "atypical hus 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"mannosyltransferase", "subunit", "dolichol phosphate", "phosphate mannosyltransferase", "mannosyltransferase subunit", "subunit 3", "dolichol phosphate mannosyltransferase", "phosphate mannosyltransferase subunit", "mannosyltransferase subunit 3", "dolichol phosphate mannosyltransferase subunit", "phosphate mannosyltransferase subunit 3", "dolichol phosphate mannosyltransferase subunit 3", "dpm", "synthase", "complex", "dpm synthase", "synthase complex", "complex subunit", "dpm synthase complex", "synthase complex subunit", "complex subunit 3", "dpm synthase complex subunit", "synthase complex subunit 3", "dpm synthase complex subunit 3", "synthase subunit", "dpm synthase subunit", "synthase subunit 3", "dpm synthase subunit 3", "mannose", "phosphate mannose", "mannose synthase", "dolichol phosphate mannose", "phosphate mannose synthase", "mannose synthase subunit", "dolichol phosphate mannose synthase", "phosphate mannose synthase subunit", "mannose synthase subunit 3", "dolichol phosphate mannose synthase subunit", "phosphate mannose synthase subunit 3", "dolichyl", "beta", "dolichyl phosphate", "phosphate beta", "beta d", "d mannosyltransferase", "dolichyl phosphate beta", "phosphate beta d", "beta d mannosyltransferase", "d mannosyltransferase subunit", "dolichyl phosphate beta d", "phosphate beta d mannosyltransferase", "beta d mannosyltransferase subunit", "d mannosyltransferase subunit 3", "dolichyl phosphate beta d mannosyltransferase", "phosphate beta d mannosyltransferase subunit", "beta d mannosyltransferase subunit 3", "mpd", "mpd synthase", "mpd synthase subunit", "mpd synthase subunit 3", "mannose p", "p dolichol", "dolichol synthase", "mannose p dolichol", "p dolichol synthase", "dolichol synthase subunit", "mannose p dolichol synthase", "p dolichol synthase subunit", "dolichol synthase subunit 3", "mannose p dolichol synthase subunit", "p dolichol synthase subunit 3", "prostin", "prostin 1", "isoform", "3 isoform", "isoform 1", "subunit 3 isoform", "3 isoform 1", "mannosyltransferase subunit 3 isoform", "subunit 3 isoform 1", "phosphate mannosyltransferase subunit 3 isoform", "mannosyltransferase subunit 3 isoform 1", "polypeptide", "mannosyltransferase polypeptide", "polypeptide 3", "dolichyl phosphate mannosyltransferase", "phosphate mannosyltransferase polypeptide", "mannosyltransferase polypeptide 3", "dolichyl phosphate mannosyltransferase polypeptide", "phosphate mannosyltransferase polypeptide 3", "dolichyl phosphate mannosyltransferase polypeptide 3", "testicular", "tissue", "protein", "li", "58", "testicular tissue", "tissue protein", "protein li", "li 58", "testicular tissue protein", "tissue protein li", "protein li 58", "testicular tissue protein li", "tissue protein li 58", "testicular tissue protein li 58" ] }, { "record_id": "MONDO:0013050", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013050", "0013050", "mim:612938", "612938" ] }, { "record_id": "MONDO:0013050", "record_type": "disease", "section": "disease_name", "phraselist": [ "lethal", "polymalformative", "syndrome", "boissel", "type", "lethal polymalformative", "polymalformative syndrome", "boissel type", "lethal polymalformative syndrome", "syndrome boissel", "polymalformative syndrome boissel", "syndrome boissel type", "lethal polymalformative syndrome boissel", "polymalformative syndrome boissel type", "growth", "retardation", "developmental", "delay", "facial", "dysmorphism", "growth retardation", "developmental delay", "facial dysmorphism", "retardation developmental", "delay facial", "growth retardation developmental", "retardation developmental delay", "developmental delay facial", "delay facial dysmorphism", "growth retardation developmental delay", "developmental delay facial dysmorphism", "gdfd", "and", "and facial", "delay and", "and facial dysmorphism", "developmental delay and", "delay and facial", "developmental delay and facial", "delay and facial dysmorphism" ] }, { "record_id": "MONDO:0013050", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013050", "record_type": "disease", "section": "proteins", "phraselist": [ "q9c0b1", "q9c0b1 1", "fto_human", "np_001073901", "glycoprotein", "fto", "alkbh9", "bmiq14", "gdfd", "ifex9", "kiaa1752" ] }, { "record_id": "MONDO:0013050", "record_type": "disease", "section": "proteins", "phraselist": [ "alpha", "ketoglutarate", "dependent", "dioxygenase", "fto", "alpha ketoglutarate", "ketoglutarate dependent", "dependent dioxygenase", "dioxygenase fto", "alpha ketoglutarate dependent", "ketoglutarate dependent dioxygenase", "dependent dioxygenase fto", "alpha ketoglutarate dependent dioxygenase", "ketoglutarate dependent dioxygenase fto", "alpha ketoglutarate dependent dioxygenase fto", "1.14.11.", "1.14.11.53", "alkb", "homolog", "alkb homolog", "homolog 9", "alkb homolog 9", "fat", "mass", "and", "obesity", "associated", "protein", "fat mass", "mass and", "and obesity", "obesity associated", "associated protein", "fat mass and", "mass and obesity", "and obesity associated", "obesity associated protein", "fat mass and obesity", "mass and obesity associated", "and obesity associated protein", "fat mass and obesity associated", "mass and obesity associated protein", "u6", "small", "nuclear", "rna", "2'", "methyladenosine", "demethylase", "u6 small", "small nuclear", "nuclear rna", "2' o", "o methyladenosine", "methyladenosine n", "n 6", "demethylase fto", "u6 small nuclear", "small nuclear rna", "rna 2'", "2' o methyladenosine", "o methyladenosine n", "methyladenosine n 6", "u6 small nuclear rna", "nuclear rna 2'", "rna 2' o", "2' o methyladenosine n", "o methyladenosine n 6", "small nuclear rna 2'", "nuclear rna 2' o", "rna 2' o methyladenosine", "2' o methyladenosine n 6", "6 demethylase", "rna n", "methyladenosine demethylase", "nuclear rna n", "rna n 6", "6 methyladenosine", "methyladenosine demethylase fto", "small nuclear rna n", "nuclear rna n 6", "n 6 methyladenosine", "6 methyladenosine demethylase", "u6 small nuclear rna n", "small nuclear rna n 6", "rna n 6 methyladenosine", "n 6 methyladenosine demethylase", "6 methyladenosine demethylase fto", "isoform", "fto isoform", "isoform 3", "dioxygenase fto isoform", "fto isoform 3", "dependent dioxygenase fto isoform", "dioxygenase fto isoform 3", "ketoglutarate dependent dioxygenase fto isoform", "dependent dioxygenase fto isoform 3", "intragenic", "exon", "containing", "transcript", "intragenic fto", "fto exon", "exon 9", "9 containing", "containing transcript", "intragenic fto exon", "fto exon 9", "exon 9 containing", "9 containing transcript", "intragenic fto exon 9", "fto exon 9 containing", "exon 9 containing transcript", "intragenic fto exon 9 containing", "fto exon 9 containing transcript", "m6a", "m6a m", "m demethylase", "m6a m demethylase", "m demethylase fto", "m6a m 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fibrillation 2", "familial paroxysmal ventricular fibrillation", "paroxysmal ventricular fibrillation 2", "familial paroxysmal ventricular fibrillation 2" ] }, { "record_id": "MONDO:0013063", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013063", "record_type": "disease", "section": "proteins", "phraselist": [ "p42658", "p42658 1", "dpp6_human", "np_570629", "glycoprotein", "dpp6", "dpl1", "dppx", "mrd33", "vf2" ] }, { "record_id": "MONDO:0013063", "record_type": "disease", "section": "proteins", "phraselist": [ "type", "potassium", "channel", "modulatory", "protein", "dpp6", "a type", "type potassium", "potassium channel", "channel modulatory", "modulatory protein", "protein dpp6", "a type potassium", "type potassium channel", "potassium channel modulatory", "channel modulatory protein", "modulatory protein dpp6", "a type potassium channel", "type potassium channel modulatory", "potassium channel modulatory protein", "channel modulatory protein dpp6", "a type potassium channel modulatory", "type potassium channel modulatory protein", "potassium channel modulatory protein dpp6", "isoform", "dpp6 isoform", "isoform 1", "protein dpp6 isoform", "dpp6 isoform 1", "modulatory protein dpp6 isoform", "protein dpp6 isoform 1", "channel modulatory protein dpp6 isoform", "modulatory protein dpp6 isoform 1", "dpp", "vi", "dpp vi", "dppx", "dipeptidyl", "aminopeptidase", "like", "dipeptidyl aminopeptidase", "aminopeptidase like", "like protein", "protein 6", "dipeptidyl aminopeptidase like", "aminopeptidase like protein", "like protein 6", "dipeptidyl aminopeptidase like protein", "aminopeptidase like protein 6", "dipeptidyl aminopeptidase like protein 6", "related", "aminopeptidase related", "related protein", "dipeptidyl aminopeptidase related", "aminopeptidase related protein", "dipeptidyl aminopeptidase related protein", "peptidase", "dipeptidyl peptidase", "peptidase 6", "dipeptidyl peptidase 6", "iv", "peptidase iv", "iv like", "dipeptidyl peptidase iv", "peptidase iv like", "iv like protein", "dipeptidyl peptidase iv like", "peptidase iv like protein", "dipeptidyl peptidase iv like protein", "peptidase vi", "dipeptidyl peptidase vi", "aminopeptidase iv", "iv related", "dipeptidyl aminopeptidase iv", "aminopeptidase iv related", "iv related protein", "dipeptidyl aminopeptidase iv related", "aminopeptidase iv related protein", "dipeptidyl aminopeptidase iv related protein", "peptidase iv related", "dipeptidyl peptidase iv related", "peptidase iv related protein", "dipeptidyl peptidase iv related protein" ] }, { "record_id": "MONDO:0013074", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013074", "0013074", "mim:613001", "613001" ] }, { "record_id": "MONDO:0013074", "record_type": "disease", "section": "disease_name", "phraselist": [ "encephalocraniocutaneous", "lipomatosis", "encephalocraniocutaneous lipomatosis", "eccl", "fishman", "syndrome", "fishman syndrome", "haberland", "haberland syndrome", "somatic", "mosaic", "somatic mosaic", "lipomatosis somatic", "encephalocraniocutaneous lipomatosis somatic", "lipomatosis somatic mosaic", "encephalocraniocutaneous lipomatosis somatic mosaic" ] }, { "record_id": "MONDO:0013074", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013074", "record_type": "disease", "section": "proteins", "phraselist": [ "p11362", "p11362 1", "fgfr1_human", "np_001167534", "glycoprotein", "fgfr1", "bfgfr", "cd331", "cek", "eccl", "fgfbr", "fgfr", "fgfr 1", "flg", "flt", "flt 2", "flt2", "hbgfr", "hh2", "hrtfds", "kal2", "sam", "n sam", "ogd", "bfgf", "bfgf r", "r 1", "bfgf r 1" ] }, { "record_id": "MONDO:0013074", "record_type": "disease", "section": "proteins", "phraselist": [ "fibroblast", "growth", "factor", "receptor", "fibroblast growth", "growth factor", "factor receptor", "receptor 1", "fibroblast growth factor", "growth factor receptor", "factor receptor 1", "fibroblast growth factor receptor", "growth factor receptor 1", "fibroblast growth factor receptor 1", "2.7.10.1", "bfgfr", "basic", "basic fibroblast", "basic fibroblast growth", "basic fibroblast growth factor", "basic fibroblast growth factor receptor", "fgfr", "fgfr 1", "fgfr1/plag1", "fusion", "fgfr1/plag1 fusion", "flt", "flt 2", "fms", "like", "tyrosine", "kinase", "fms like", "like tyrosine", "tyrosine kinase", "kinase 2", "fms like tyrosine", "like tyrosine kinase", "tyrosine kinase 2", "fms like tyrosine kinase", "like tyrosine kinase 2", "fms like tyrosine kinase 2", "sam", "n sam", "bfgf", "bfgf r", "r 1", "bfgf r 1", "isoform", "10", "precursor", "1 isoform", "isoform 10", "10 precursor", "receptor 1 isoform", "1 isoform 10", "isoform 10 precursor", "factor receptor 1 isoform", "receptor 1 isoform 10", "1 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"record_type": "disease", "section": "proteins", "phraselist": [ "q8iwu9", "q8iwu9 1", "tph2_human", "np_775489", "glycoprotein", "tph2", "adhd7", "ntph" ] }, { "record_id": "MONDO:0013076", "record_type": "disease", "section": "proteins", "phraselist": [ "tryptophan", "hydroxylase", "tryptophan 5", "5 hydroxylase", "hydroxylase 2", "tryptophan 5 hydroxylase", "5 hydroxylase 2", "tryptophan 5 hydroxylase 2", "1.14.16.4", "neuronal", "neuronal tryptophan", "tryptophan hydroxylase", "neuronal tryptophan hydroxylase", "monooxygenase", "5 monooxygenase", "monooxygenase 2", "tryptophan 5 monooxygenase", "5 monooxygenase 2", "tryptophan 5 monooxygenase 2" ] }, { "record_id": "MONDO:0013077", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013077", "0013077", "mim:613005", "613005" ] }, { "record_id": "MONDO:0013077", "record_type": "disease", "section": "disease_name", "phraselist": [ "santos", "syndrome", "santos syndrome" ] }, { "record_id": "MONDO:0013077", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013077", "record_type": "disease", "section": "proteins", "phraselist": [ "o00755", "o00755 1", "wnt7a_human", "np_004616", "glycoprotein", "wnt7a", "santos", "wnt", "7a", "wnt 7a" ] }, { "record_id": "MONDO:0013077", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "wnt", "7a", "protein wnt", "wnt 7a", "protein wnt 7a", "precursor", "7a precursor", "wnt 7a precursor", "protein wnt 7a precursor", "proto", "oncogene", "wnt7a", "proto oncogene", "oncogene wnt7a", "wnt7a protein", "proto oncogene wnt7a", "oncogene wnt7a protein", "proto oncogene wnt7a protein", "wingless", "type", "mmtv", "integration", "site", "family", "member", "wingless type", "type mmtv", "mmtv integration", "integration site", "site family", "member 7a", "wingless type mmtv", "type mmtv integration", "mmtv 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"proteins", "phraselist": [ "p51160", "p51160 1", "pde6c_human", "np_006195", "glycoprotein", "pde6c", "achm5", "cod4", "pdea2" ] }, { "record_id": "MONDO:0013129", "record_type": "disease", "section": "proteins", "phraselist": [ "cone", "cgmp", "specific", "3'", "5'", "cyclic", "phosphodiesterase", "subunit", "alpha'", "cone cgmp", "cgmp specific", "specific 3'", "3' 5'", "5' cyclic", "cyclic phosphodiesterase", "phosphodiesterase subunit", "subunit alpha'", "cone cgmp specific", "cgmp specific 3'", "specific 3' 5'", "3' 5' cyclic", "5' cyclic phosphodiesterase", "cyclic phosphodiesterase subunit", "phosphodiesterase subunit alpha'", "cone cgmp specific 3'", "cgmp specific 3' 5'", "specific 3' 5' cyclic", "3' 5' cyclic phosphodiesterase", "5' cyclic phosphodiesterase subunit", "cyclic phosphodiesterase subunit alpha'", "cone cgmp specific 3' 5'", "cgmp specific 3' 5' cyclic", "specific 3' 5' cyclic phosphodiesterase", "3' 5' cyclic phosphodiesterase subunit", "5' cyclic 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melanocyte", "alpha melanocyte stimulating", "alpha melanocyte stimulating hormone", "alpha melanocyte stimulating hormone receptor", "melanotropin", "melanotropin receptor" ] }, { "record_id": "MONDO:0013136", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013136", "0013136", "mim:613102", "613102" ] }, { "record_id": "MONDO:0013136", "record_type": "disease", "section": "disease_name", "phraselist": [ "hereditary", "hypotrichosis", "with", "recurrent", "skin", "vesicles", "hereditary hypotrichosis", "hypotrichosis with", "with recurrent", "recurrent skin", "skin vesicles", "hereditary hypotrichosis with", "hypotrichosis with recurrent", "with recurrent skin", "recurrent skin vesicles", "hereditary hypotrichosis with recurrent", "hypotrichosis with recurrent skin", "with recurrent skin vesicles", "hereditary hypotrichosis with recurrent skin", "hypotrichosis with recurrent skin vesicles", "and", "hypotrichosis and", "and recurrent", "hypotrichosis and 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"section": "proteins", "phraselist": [ "q9ubr1", "q9ubr1 1", "bup1_human", "np_057411", "upb1", "bup1" ] }, { "record_id": "MONDO:0013164", "record_type": "disease", "section": "proteins", "phraselist": [ "beta", "ureidopropionase", "beta ureidopropionase", "3.5.1.6", "bup", "bup 1", "alanine", "synthase", "beta alanine", "alanine synthase", "beta alanine synthase", "carbamoyl", "amidohydrolase", "n carbamoyl", "carbamoyl beta", "alanine amidohydrolase", "n carbamoyl beta", "carbamoyl beta alanine", "beta alanine amidohydrolase", "n carbamoyl beta alanine", "carbamoyl beta alanine amidohydrolase", "n carbamoyl beta alanine amidohydrolase", "ureidopropionase beta" ] }, { "record_id": "MONDO:0013185", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013185", "0013185" ] }, { "record_id": "MONDO:0013185", "record_type": "disease", "section": "disease_name", "phraselist": [ "leprosy", "susceptibility", "to", "susceptibility to", "leprosy susceptibility", "to 5", 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"thyrotoxic periodic paralysis 2" ] }, { "record_id": "MONDO:0013193", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013193", "record_type": "disease", "section": "proteins", "phraselist": [ "b7u540", "b7u540 1", "kcj18_human", "np_001181887", "kcnj18", "kir2.6", "ttpp2" ] }, { "record_id": "MONDO:0013193", "record_type": "disease", "section": "proteins", "phraselist": [ "inward", "rectifier", "potassium", "channel", "18", "inward rectifier", "rectifier potassium", "potassium channel", "channel 18", "inward rectifier potassium", "rectifier potassium channel", "potassium channel 18", "inward rectifier potassium channel", "rectifier potassium channel 18", "inward rectifier potassium channel 18", "kir2.6", "rectifier k", "k +", "channel kir2.6", "inward rectifier k", "rectifier k +", "+ channel", "inward rectifier k +", "k + channel", "+ channel kir2.6", 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"channel subfamily j", "potassium voltage gated channel", "voltage gated channel subfamily", "gated channel subfamily j", "channel subfamily j member", "potassium voltage gated channel subfamily", "voltage gated channel subfamily j", "gated channel subfamily j member", "channel subfamily j member 18", "thyrotoxic", "periodic", "paralysis", "susceptibility", "ion", "thyrotoxic periodic", "periodic paralysis", "paralysis susceptibility", "susceptibility ion", "ion channel", "thyrotoxic periodic paralysis", "periodic paralysis susceptibility", "paralysis susceptibility ion", "susceptibility ion channel", "thyrotoxic periodic paralysis susceptibility", "periodic paralysis susceptibility ion", "paralysis susceptibility ion channel", "thyrotoxic periodic paralysis susceptibility ion", "periodic paralysis susceptibility ion channel" ] }, { "record_id": "MONDO:0013214", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013214", "0013214", "mim:613291", "613291" ] }, { "record_id": "MONDO:0013214", "record_type": "disease", "section": "disease_name", "phraselist": [ "bile", "acid", "malabsorption", "primary", "bile acid", "acid malabsorption", "bile acid malabsorption", "malabsorption primary", "primary 1", "acid malabsorption primary", "bile acid malabsorption primary", "malabsorption primary 1", "pbam" ] }, { "record_id": "MONDO:0013214", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013214", "record_type": "disease", "section": "proteins", "phraselist": [ "q12908", "q12908 1", "ntcp2_human", "np_000443", "glycoprotein", "slc10a2", "asbt", "ibat", "isbt", "ntcp2", "pbam1", "pbam" ] }, { "record_id": "MONDO:0013214", "record_type": "disease", "section": "proteins", "phraselist": [ "ileal", "sodium/bile", "acid", "cotransporter", "ileal sodium/bile", "sodium/bile acid", "acid cotransporter", "ileal sodium/bile acid", "sodium/bile acid cotransporter", "ileal sodium/bile acid cotransporter", "asbt", "apical", "sodium", "dependent", "bile", "transporter", "apical sodium", "sodium dependent", "dependent bile", "bile acid", "acid transporter", "apical sodium dependent", "sodium dependent bile", "dependent bile acid", "bile acid transporter", "apical sodium dependent bile", "sodium dependent bile acid", "dependent bile acid transporter", "apical sodium dependent bile acid", "sodium dependent bile acid transporter", "ibat", "isbt", "na", "/bile", "ileal na", "na +", "+ /bile", "/bile acid", "ileal na +", "na + /bile", "+ /bile acid", "/bile acid cotransporter", "ileal na + /bile", "na + /bile acid", "+ /bile acid cotransporter", "ileal na + /bile acid", "na + /bile acid cotransporter", "ileal sodium", "ileal sodium dependent", "ileal sodium dependent bile", "ileal sodium dependent bile acid", "dependent ileal", "ileal bile", "+ dependent", "dependent ileal bile", "ileal bile acid", "na + dependent", "+ 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"ileal apical", "ileal apical sodium", "ileal apical sodium dependent", "ileal apical sodium dependent bile", "cotransporter family", "10 sodium/bile", "acid cotransporter family", "family 10 sodium/bile", "10 sodium/bile acid", "sodium/bile acid cotransporter family", "family member", "carrier family 10 sodium/bile", "family 10 sodium/bile acid", "10 sodium/bile acid cotransporter", "cotransporter family member", "family member 2", "cotransporter member", "acid cotransporter member", "cotransporter member 2" ] }, { "record_id": "MONDO:0013226", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013226", "0013226", "mim:613328", "613328" ] }, { "record_id": "MONDO:0013226", "record_type": "disease", "section": "disease_name", "phraselist": [ "combined", "immunodeficiency", "with", "faciooculoskeletal", "anomalies", "combined immunodeficiency", "immunodeficiency with", "with faciooculoskeletal", "faciooculoskeletal anomalies", "combined immunodeficiency with", "immunodeficiency with faciooculoskeletal", "with faciooculoskeletal anomalies", "combined immunodeficiency with faciooculoskeletal", "immunodeficiency with faciooculoskeletal anomalies", "combined immunodeficiency with faciooculoskeletal anomalies", "roifman", "chitayat", "syndrome", "roifman chitayat", "chitayat syndrome", "roifman chitayat syndrome", "digenic", "syndrome digenic", "chitayat syndrome digenic", "roifman chitayat syndrome digenic" ] }, { "record_id": "MONDO:0013226", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013226", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013226", "record_type": "disease", "section": "proteins", "phraselist": [ "o00329", "o00329 1", "pk3cd_human", "np_005017", "glycoprotein", 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methylmalonate", "delay due to methylmalonate semialdehyde", "due to methylmalonate semialdehyde dehydrogenase", "to methylmalonate semialdehyde dehydrogenase deficiency", "mmsdhd" ] }, { "record_id": "MONDO:0013579", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013579", "record_type": "disease", "section": "proteins", "phraselist": [ "q02252", "q02252 1", "mmsa_human", "np_001265522", "glycoprotein", "aldh6a1", "mmsadha", "mmsdh" ] }, { "record_id": "MONDO:0013579", "record_type": "disease", "section": "proteins", "phraselist": [ "methylmalonate", "semialdehyde/malonate", "semialdehyde", "dehydrogenase", "acylating", "mitochondrial", "methylmalonate semialdehyde/malonate", "semialdehyde/malonate semialdehyde", "semialdehyde dehydrogenase", "methylmalonate semialdehyde/malonate semialdehyde", "semialdehyde/malonate semialdehyde dehydrogenase", 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"MONDO:0013583", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y6n6", "q9y6n6 1", "lamc3_human", "np_006050", "glycoprotein", "lamc3", "occm" ] }, { "record_id": "MONDO:0013583", "record_type": "disease", "section": "proteins", "phraselist": [ "laminin", "subunit", "gamma", "laminin subunit", "subunit gamma", "gamma 3", "laminin subunit gamma", "subunit gamma 3", "laminin subunit gamma 3", "12", "laminin 12", "12 subunit", "laminin 12 subunit", "12 subunit gamma", "laminin 12 subunit gamma", "14", "laminin 14", "14 subunit", "laminin 14 subunit", "14 subunit gamma", "laminin 14 subunit gamma", "15", "laminin 15", "15 subunit", "laminin 15 subunit", "15 subunit gamma", "laminin 15 subunit gamma", "precursor", "3 precursor", "gamma 3 precursor", "subunit gamma 3 precursor", "laminin subunit gamma 3 precursor", "laminin gamma", "laminin gamma 3" ] }, { "record_id": "MONDO:0013586", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013586", "0013586" ] }, { "record_id": "MONDO:0013586", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "chitotriosidase", "deficiency", "obsolete chitotriosidase", "chitotriosidase deficiency", "obsolete chitotriosidase deficiency", "chitd" ] }, { "record_id": "MONDO:0013586", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013586", "record_type": "disease", "section": "proteins", "phraselist": [ "q13231", "q13231 1", "chit1_human", "np_001243054", "glycoprotein", "chit1", "chi3", "chitd", "chit" ] }, { "record_id": "MONDO:0013586", "record_type": "disease", "section": "proteins", "phraselist": [ "chitotriosidase", "chitotriosidase 1", "3.2.1.14", "chitinase", "chitinase 1", "1 chitotriosidase", "chitinase 1 chitotriosidase", "isoform", "precursor", "1 isoform", "isoform 2", "2 precursor", "chitotriosidase 1 isoform", "1 isoform 2", "isoform 2 precursor", "chitotriosidase 1 isoform 2", "1 isoform 2 precursor", "chitotriosidase 1 isoform 2 precursor", "plasma", "methylumbelliferyl", "tetra", "acetylchitotetraoside", "hydrolase", "plasma methylumbelliferyl", "methylumbelliferyl tetra", "tetra n", "n acetylchitotetraoside", "acetylchitotetraoside hydrolase", "plasma methylumbelliferyl tetra", "methylumbelliferyl tetra n", "tetra n acetylchitotetraoside", "n acetylchitotetraoside hydrolase", "plasma methylumbelliferyl tetra n", "methylumbelliferyl tetra n acetylchitotetraoside", "tetra n acetylchitotetraoside hydrolase", "plasma methylumbelliferyl tetra n acetylchitotetraoside", "methylumbelliferyl tetra n acetylchitotetraoside hydrolase" ] }, { "record_id": "MONDO:0013587", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013587", "0013587", "mim:614128", "614128" ] }, { "record_id": "MONDO:0013587", "record_type": "disease", "section": "disease_name", "phraselist": [ "glycogen", 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"record_id": "MONDO:0013595", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013595", "record_type": "disease", "section": "proteins", "phraselist": [ "p53004", "p53004 1", "biea_human", "np_000703", "glycoprotein", "blvra", "blvr", "bvra", "bvralpha", "bvr" ] }, { "record_id": "MONDO:0013595", "record_type": "disease", "section": "proteins", "phraselist": [ "biliverdin", "reductase", "biliverdin reductase", "reductase a", "biliverdin reductase a", "1.3.1.24", "bvr", "bvr a", "ix", "alpha", "biliverdin ix", "ix alpha", "alpha reductase", "biliverdin ix alpha", "ix alpha reductase", "biliverdin ix alpha reductase", "ixalpha", "reductase ixalpha", "biliverdin reductase ixalpha", "testis", "tissue", "sperm", "binding", "protein", "li", "61n", "testis tissue", "tissue sperm", "sperm binding", "binding protein", "protein li", "li 61n", "testis tissue sperm", 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"species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013615", "record_type": "disease", "section": "proteins", "phraselist": [ "q14626", "q14626 1", "i11ra_human", "np_001136256", "glycoprotein", "il11ra", "crsda" ] }, { "record_id": "MONDO:0013615", "record_type": "disease", "section": "proteins", "phraselist": [ "interleukin", "11", "receptor", "subunit", "alpha", "interleukin 11", "11 receptor", "receptor subunit", "subunit alpha", "interleukin 11 receptor", "11 receptor subunit", "receptor subunit alpha", "interleukin 11 receptor subunit", "11 receptor subunit alpha", "interleukin 11 receptor subunit alpha", "il", "il 11", "il 11 receptor", "il 11 receptor subunit", "il 11 receptor subunit alpha", "11r", "il 11r", "11r subunit", "il 11r subunit", "11r subunit alpha", "il 11r subunit alpha", "11r alpha", "il 11r alpha", "11ra", "il 11ra", "receptor alpha", "11 receptor alpha", "interleukin 11 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segment dysgenesis syndrome", "craniofacial anomalies and anterior segment", "anomalies and anterior segment dysgenesis", "and anterior segment dysgenesis syndrome", "caasds" ] }, { "record_id": "MONDO:0013618", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013618", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nzr4", "q9nzr4 1", "vsx1_human", "np_001243200", "glycoprotein", "vsx1", "caasds", "ktcn1", "ktcn", "ppcd1", "ppcd", "ppd", "rinx" ] }, { "record_id": "MONDO:0013618", "record_type": "disease", "section": "proteins", "phraselist": [ "visual", "system", "homeobox", "visual system", "system homeobox", "homeobox 1", "visual system homeobox", "system homeobox 1", "visual system homeobox 1", "homeodomain", "protein", "rinx", "homeodomain protein", "protein rinx", "homeodomain protein rinx", "retinal", "inner", "nuclear", "layer", "retinal inner", "inner nuclear", "nuclear layer", "layer homeobox", "homeobox protein", "retinal inner nuclear", "inner nuclear layer", "nuclear layer homeobox", "layer homeobox protein", "retinal inner nuclear layer", "inner nuclear layer homeobox", "nuclear layer homeobox protein", "retinal inner nuclear layer homeobox", "inner nuclear layer homeobox protein", "transcription", "factor", "vsx1", "transcription factor", "factor vsx1", "transcription factor vsx1", "homolog", "chx10", "like", "1 homolog", "chx10 like", "homeobox 1 homolog", "homolog chx10", "system homeobox 1 homolog", "1 homolog chx10", "homolog chx10 like", "visual system homeobox 1 homolog", "homeobox 1 homolog chx10", "1 homolog chx10 like", "isoform", "1 isoform", "isoform c", "homeobox 1 isoform", "1 isoform c", "system homeobox 1 isoform", "homeobox 1 isoform c", "visual system homeobox 1 isoform", "system homeobox 1 isoform c" ] }, { "record_id": "MONDO:0013630", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013630", "0013630", "mim:614209", "614209" ] }, { "record_id": "MONDO:0013630", "record_type": "disease", "section": "disease_name", "phraselist": [ "meckel", "syndrome", "type", "meckel syndrome", "type 9", "syndrome type", "meckel syndrome type", "syndrome type 9", "meckel syndrome type 9", "b9d1", "b9d1 meckel", "b9d1 meckel syndrome", "caused", "by", "mutation", "in", "syndrome caused", "caused by", "by mutation", "mutation in", "in b9d1", "meckel syndrome caused", "syndrome caused by", "caused by mutation", "by mutation in", "mutation in b9d1", "meckel syndrome caused by", "syndrome caused by mutation", "caused by mutation in", "by mutation in b9d1", "meckel syndrome caused by mutation", "syndrome caused by mutation in", "caused by mutation in b9d1", "syndrome 9", "meckel syndrome 9", "mks9" ] }, { "record_id": "MONDO:0013633", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013633", "0013633", "mim:614212", "614212" ] }, { "record_id": "MONDO:0013633", "record_type": "disease", "section": "disease_name", "phraselist": [ "encephalopathy", "acute", "infection", "induced", "susceptibility", "to", "infection induced", "susceptibility to", "encephalopathy acute", "acute infection", "induced susceptibility", "to 4", "acute infection induced", "infection induced susceptibility", "induced susceptibility to", "susceptibility to 4", "encephalopathy acute infection", "infection induced susceptibility to", "cpt2", "cpt2 encephalopathy", "cpt2 encephalopathy acute", "caused", "by", "mutation", "in", "induced caused", "caused by", "by mutation", "mutation in", "in cpt2", "infection induced caused", "induced caused by", "caused by mutation", "by mutation in", "mutation in cpt2", "infection induced caused by", "induced caused by mutation", "caused by mutation in", "by mutation in cpt2", "acute infection induced caused", "infection induced caused by mutation", "induced caused by mutation in", "caused by mutation 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"tnf r55", "tnfar", "tnfr1", "tnfr55", "tnfr60", "p55", "p55 r", "p60" ] }, { "record_id": "MONDO:0013893", "record_type": "disease", "section": "proteins", "phraselist": [ "tumor", "necrosis", "factor", "receptor", "superfamily", "member", "1a", "tumor necrosis", "necrosis factor", "factor receptor", "receptor superfamily", "superfamily member", "member 1a", "tumor necrosis factor", "necrosis factor receptor", "factor receptor superfamily", "receptor superfamily member", "superfamily member 1a", "tumor necrosis factor receptor", "necrosis factor receptor superfamily", "factor receptor superfamily member", "receptor superfamily member 1a", "tumor necrosis factor receptor superfamily", "necrosis factor receptor superfamily member", "factor receptor superfamily member 1a", "tnf", "r1", "tnf r1", "ri", "tnf ri", "tnfr", "tnfr i", "receptor 1", "factor receptor 1", "necrosis factor receptor 1", "tumor necrosis factor receptor 1", "type", "receptor type", "type i", "factor receptor type", 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necrosis factor alpha", "necrosis factor alpha receptor", "tumor necrosis factor alpha receptor" ] }, { "record_id": "MONDO:0013894", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013894", "0013894", "mim:614813", "614813" ] }, { "record_id": "MONDO:0013894", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "stature", "onychodysplasia", "facial", "dysmorphism", "hypotrichosis", "syndrome", "short stature", "stature onychodysplasia", "onychodysplasia facial", "facial dysmorphism", "dysmorphism hypotrichosis", "hypotrichosis syndrome", "short stature onychodysplasia", "stature onychodysplasia facial", "onychodysplasia facial dysmorphism", "facial dysmorphism hypotrichosis", "dysmorphism hypotrichosis syndrome", "short stature onychodysplasia facial", "stature onychodysplasia facial dysmorphism", "onychodysplasia facial dysmorphism hypotrichosis", "facial dysmorphism hypotrichosis syndrome", "short stature onychodysplasia facial dysmorphism", "stature onychodysplasia facial dysmorphism hypotrichosis", "onychodysplasia facial dysmorphism hypotrichosis syndrome", "soft", "soft syndrome", "and", "and hypotrichosis", "dysmorphism and", "facial dysmorphism and", "dysmorphism and hypotrichosis", "facial dysmorphism and hypotrichosis" ] }, { "record_id": "MONDO:0013894", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013894", "record_type": "disease", "section": "proteins", "phraselist": [ "q8nbt0", "q8nbt0 1", "poc1a_human", "np_001155052", "poc1a", "pix2", "soft", "wdr51a" ] }, { "record_id": "MONDO:0013894", "record_type": "disease", "section": "proteins", "phraselist": [ "poc1", "centriolar", "protein", "homolog", "poc1 centriolar", "centriolar protein", "protein homolog", "homolog a", "poc1 centriolar protein", "centriolar protein homolog", "protein homolog a", "poc1 centriolar 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"record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013921", "0013921", "mim:614850", "614850" ] }, { "record_id": "MONDO:0013921", "record_type": "disease", "section": "disease_name", "phraselist": [ "herpes", "simplex", "encephalitis", "susceptibility", "to", "herpes simplex", "simplex encephalitis", "susceptibility to", "herpes simplex encephalitis", "encephalitis susceptibility", "to 4", "simplex encephalitis susceptibility", "encephalitis susceptibility to", "susceptibility to 4", "herpes simplex encephalitis susceptibility", "simplex encephalitis susceptibility to", "type", "type 4", "to type", "susceptibility to type", "to type 4", "susceptibility to type 4", "ticam1", "ticam1 herpes", "ticam1 herpes simplex", "ticam1 herpes simplex encephalitis", "caused", "by", "mutation", "in", "encephalitis caused", "caused by", "by mutation", "mutation in", "in ticam1", "simplex encephalitis caused", "encephalitis caused by", "caused by mutation", "by mutation in", "mutation in ticam1", "herpes simplex encephalitis caused", "simplex encephalitis caused by", "encephalitis caused by mutation", "caused by mutation in", "by mutation in ticam1", "herpes simplex encephalitis caused by", "simplex encephalitis caused by mutation", "encephalitis caused by mutation in", "caused by mutation in ticam1", "iiae6", "encephalopathy", "acute", "infection", "induced", "specific", "infection induced", "herpes specific", "encephalopathy acute", "acute infection", "induced 6", "6 herpes", "acute infection induced", "infection induced 6", "6 herpes specific", "encephalopathy acute infection", "induced 6 herpes" ] }, { "record_id": "MONDO:0013921", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013921", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iuc6", "q8iuc6 1", "tcam1_human", "np_891549", "glycoprotein", "ticam1", "iiae6", "myd88", "myd88 3", "prvtirb", "ticam", "ticam 1", "trif" ] }, { "record_id": "MONDO:0013921", "record_type": "disease", "section": "proteins", "phraselist": [ "tir", "domain", "containing", "adapter", "molecule", "tir domain", "domain containing", "containing adapter", "adapter molecule", "molecule 1", "tir domain containing", "domain containing adapter", "containing adapter molecule", "adapter molecule 1", "tir domain containing adapter", "domain containing adapter molecule", "containing adapter molecule 1", "tir domain containing adapter molecule", "domain containing adapter molecule 1", "myd88", "myd88 3", "proline", "rich", "vinculin", "and", "protein", "proline rich", "vinculin and", "and tir", "containing protein", "protein b", "rich vinculin", "vinculin and tir", "and tir domain", "domain containing protein", "containing protein b", "proline rich vinculin", "rich vinculin and", "vinculin and tir domain", "and tir domain containing", "tir domain containing 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"MONDO:0013925", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013925", "0013925", "mim:614857", "614857" ] }, { "record_id": "MONDO:0013925", "record_type": "disease", "section": "disease_name", "phraselist": [ "methylmalonic", "acidemia", "with", "homocystinuria", "type", "cblj", "methylmalonic acidemia", "acidemia with", "with homocystinuria", "type cblj", "methylmalonic acidemia with", "acidemia with homocystinuria", "homocystinuria type", "methylmalonic acidemia with homocystinuria", "with homocystinuria type", "homocystinuria type cblj", "acidemia with homocystinuria type", "with homocystinuria type cblj", "defects", "cblj defects", "cobalamin", "defect", "cobalamin j", "j defect", "cobalamin j defect", "combined", "in", "adenosylcobalamin", "and", "methylcobalamin", "synthesis", "combined defect", "defect in", "in adenosylcobalamin", "adenosylcobalamin and", "and methylcobalamin", "methylcobalamin synthesis", "combined defect in", "defect in 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homocystinuria", "homocystinuria cblj", "methylmalonic aciduria and homocystinuria", "and homocystinuria cblj", "homocystinuria cblj type", "aciduria and homocystinuria cblj", "and homocystinuria cblj type", "and homocystinuria type", "aciduria and homocystinuria type", "and homocystinuria type cblj", "methylmalonic aciduria and homocystinuria type", "aciduria and homocystinuria type cblj" ] }, { "record_id": "MONDO:0013925", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0013925", "record_type": "disease", "section": "proteins", "phraselist": [ "o14678", "o14678 1", "abcd4_human", "np_005041", "abcd4", "abc41", "est352188", "mahcj", "p70r", "p79r", "pmp69", "pxmp1l" ] }, { "record_id": "MONDO:0013925", "record_type": "disease", "section": "proteins", "phraselist": [ "lysosomal", "cobalamin", "transporter", "abcd4", "lysosomal cobalamin", "cobalamin 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member", "sub family d ald", "ald member 4", "p70r", "pmp69", "pmp70", "related", "protein", "pmp70 related", "related protein", "pmp70 related protein", "pxmp1", "pxmp1 l", "membrane", "like", "peroxisomal membrane", "membrane protein", "protein 1", "1 like", "peroxisomal membrane protein", "membrane protein 1", "protein 1 like", "peroxisomal membrane protein 1", "membrane protein 1 like", "peroxisomal membrane protein 1 like", "protein 69", "membrane protein 69", "peroxisomal membrane protein 69", "isoform", "abcd4 isoform", "isoform a", "transporter abcd4 isoform", "abcd4 isoform a", "cobalamin transporter abcd4 isoform", "transporter abcd4 isoform a", "lysosomal cobalamin transporter abcd4 isoform", "cobalamin transporter abcd4 isoform a" ] }, { "record_id": "MONDO:0013934", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0013934", "0013934", "mim:614868", "614868" ] }, { "record_id": "MONDO:0013934", "record_type": "disease", "section": "disease_name", "phraselist": [ "combined", "immunodeficiency", "due", "to", "stk4", "deficiency", "combined immunodeficiency", "immunodeficiency due", "due to", "to stk4", "stk4 deficiency", "combined immunodeficiency due", "immunodeficiency due to", "due to stk4", "to stk4 deficiency", "combined immunodeficiency due to", "immunodeficiency due to stk4", "due to stk4 deficiency", "combined immunodeficiency due to stk4", "immunodeficiency due to stk4 deficiency", "cid", "cid due", "cid due to", "cid due to stk4", "cid due to stk4 deficiency", "mst1", "mst1 deficiency", "cell", "recurrent", "infections", "autoimmunity", "and", "cardiac", "malformations", "t cell", "cell immunodeficiency", "recurrent infections", "and cardiac", "cardiac malformations", "t cell immunodeficiency", "immunodeficiency recurrent", "infections autoimmunity", "autoimmunity and", "and cardiac malformations", "cell immunodeficiency recurrent", "immunodeficiency recurrent infections", "recurrent infections autoimmunity", 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"sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014464", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014464", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014464", "record_type": "disease", "section": "proteins", "phraselist": [ "q16698", "q16698 1", "decr_human", "np_001317504", "glycoprotein", "decr1", "decr", "nadph", "sdr18c1", "q4g0n4", "q4g0n4 1", "nadk2_human", "np_001078880", "nadk2", "c5orf33", "decrd", "mnadk", "nadkd1", "q9udr5", "q9udr5 1", "aass_human", "np_005754", "aass", "lkr/sdh", "lkrsdh", "lorsdh", "q06787", "q06787 1", "fmr1_human", "np_001172004", "fmr1", "fmrp", "fraxa", "pof1", "pofx", "pof" ] }, { "record_id": "MONDO:0014464", "record_type": "disease", "section": "proteins", 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"alpha aminoadipate semialdehyde synthase", "lysine", "oxoglutarate", "lysine 2", "2 oxoglutarate", "oxoglutarate reductase", "lysine 2 oxoglutarate", "2 oxoglutarate reductase", "lysine 2 oxoglutarate reductase", "ketoglutarate", "/saccharopine", "dehydrogenase", "lysine ketoglutarate", "ketoglutarate reductase", "reductase /saccharopine", "/saccharopine dehydrogenase", "lysine ketoglutarate reductase", "ketoglutarate reductase /saccharopine", "reductase /saccharopine dehydrogenase", "lysine ketoglutarate reductase /saccharopine", "ketoglutarate reductase /saccharopine dehydrogenase", "lysine ketoglutarate reductase /saccharopine dehydrogenase", "saccharopine", "glutamate", "forming", "saccharopine dehydrogenase", "nad +", "l glutamate", "glutamate forming", "dehydrogenase nad", "l glutamate forming", "saccharopine dehydrogenase nad", "dehydrogenase nad +", "+ l", "saccharopine dehydrogenase nad +", "nad + l", "+ l glutamate", "nadp", "nadp +", "l lysine", "lysine forming", "dehydrogenase nadp", "l lysine forming", "saccharopine dehydrogenase nadp", "dehydrogenase nadp +", "saccharopine dehydrogenase nadp +", "nadp + l", "+ l lysine", "fragile", "messenger", "ribonucleoprotein", "fragile x", "x messenger", "messenger ribonucleoprotein", "ribonucleoprotein 1", "fragile x messenger", "x messenger ribonucleoprotein", "messenger ribonucleoprotein 1", "fragile x messenger ribonucleoprotein", "x messenger ribonucleoprotein 1", "fragile x messenger ribonucleoprotein 1", "fmrp", "translational", "regulator", "fmrp translational", "translational regulator", "regulator 1", "fmrp translational regulator", "translational regulator 1", "fmrp translational regulator 1", "fmr", "protein fmr", "fmr 1", "protein fmr 1", "iso6", "1 isoform", "isoform iso6", "ribonucleoprotein 1 isoform", "1 isoform iso6", "messenger ribonucleoprotein 1 isoform", "ribonucleoprotein 1 isoform iso6", "x messenger ribonucleoprotein 1 isoform", "messenger ribonucleoprotein 1 isoform iso6", "synaptic", "functional", "fmr1", "synaptic functional", "functional regulator", "regulator fmr1", "synaptic functional regulator", "functional regulator fmr1", "synaptic functional regulator fmr1" ] }, { "record_id": "MONDO:0014472", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014472", "0014472", "mim:616050", "616050" ] }, { "record_id": "MONDO:0014472", "record_type": "disease", "section": "disease_name", "phraselist": [ "periodic", "fever", "infantile", "enterocolitis", "autoinflammatory", "syndrome", "periodic fever", "fever infantile", "infantile enterocolitis", "enterocolitis autoinflammatory", "autoinflammatory syndrome", "periodic fever infantile", "fever infantile enterocolitis", "infantile enterocolitis autoinflammatory", "enterocolitis autoinflammatory syndrome", "periodic fever infantile enterocolitis", "fever infantile enterocolitis autoinflammatory", "infantile enterocolitis autoinflammatory syndrome", "periodic fever infantile 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with macrophage activation", "with macrophage activation syndrome", "related autoinflammatory syndrome with macrophage", "autoinflammatory syndrome with macrophage activation", "syndrome with macrophage activation syndrome", "related infantile", "nlrc4 related infantile", "related infantile enterocolitis", "nlrc4 related infantile enterocolitis", "related infantile enterocolitis autoinflammatory", "nlrc4 related infantile enterocolitis autoinflammatory", "related infantile enterocolitis autoinflammatory syndrome", "related macrophage", "nlrc4 related macrophage", "related macrophage activation", "nlrc4 related macrophage activation", "related macrophage activation syndrome", "nlrc4 related macrophage activation syndrome", "aifec" ] }, { "record_id": "MONDO:0014472", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014472", "record_type": "disease", 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protein", "card lrr and", "lrr and nacht containing", "ced", "like", "clan", "ced 4", "4 like", "like protein", "protein clan", "ced 4 like", "4 like protein", "like protein clan", "ced 4 like protein", "4 like protein clan", "ced 4 like protein clan", "caspase", "recruitment", "12", "caspase recruitment", "recruitment domain", "protein 12", "caspase recruitment domain", "recruitment domain containing", "containing protein 12", "caspase recruitment domain containing", "recruitment domain containing protein", "domain containing protein 12", "caspase recruitment domain containing protein", "recruitment domain containing protein 12", "ice", "protease", "activating", "factor", "ice protease", "protease activating", "activating factor", "ice protease activating", "protease activating factor", "ice protease activating factor", "ipaf", "isoform", "4 isoform", "isoform a", "protein 4 isoform", "4 isoform a", "containing protein 4 isoform", "protein 4 isoform a", "domain containing protein 4 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"and card domain containing", "card domain containing 4", "binding oligomerization domain leucine", "oligomerization domain leucine rich", "domain leucine rich repeat", "leucine rich repeat and card", "rich repeat and card domain", "repeat and card domain containing", "and card domain containing 4" ] }, { "record_id": "MONDO:0014479", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014479", "0014479", "mim:616063", "616063" ] }, { "record_id": "MONDO:0014479", "record_type": "disease", "section": "disease_name", "phraselist": [ "porokeratosis", "disseminated", "superficial", "actinic", "type", "porokeratosis 8", "disseminated superficial", "superficial actinic", "actinic type", "8 disseminated", "disseminated superficial actinic", "superficial actinic type", "porokeratosis 8 disseminated", "8 disseminated superficial", "disseminated superficial actinic type", "porokeratosis 8 disseminated superficial", "8 disseminated superficial actinic", "porok8" ] }, { "record_id": "MONDO:0014479", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014479", "record_type": "disease", "section": "proteins", "phraselist": [ "q9byt1", "q9byt1 1", "s17a9_human", "np_001289572", "glycoprotein", "slc17a9", "c20orf59", "porok8", "vnut" ] }, { "record_id": "MONDO:0014479", "record_type": "disease", "section": "proteins", "phraselist": [ "voltage", "gated", "purine", "nucleotide", "uniporter", "slc17a9", "voltage gated", "gated purine", "purine nucleotide", "nucleotide uniporter", "uniporter slc17a9", "voltage gated purine", "gated purine nucleotide", "purine nucleotide uniporter", "nucleotide uniporter slc17a9", "voltage gated purine nucleotide", "gated purine nucleotide uniporter", "purine nucleotide uniporter slc17a9", "voltage gated purine nucleotide uniporter", "gated purine nucleotide uniporter slc17a9", "solute", "carrier", "family", "17", "member", "solute carrier", "carrier family", "family 17", "17 member", "member 9", "solute carrier family", "carrier family 17", "family 17 member", "17 member 9", "solute carrier family 17", "carrier family 17 member", "family 17 member 9", "solute carrier family 17 member", "carrier family 17 member 9", "vnut", "vesicular", "transporter", "vesicular nucleotide", "nucleotide transporter", "vesicular nucleotide transporter", "17 vesicular", "family 17 vesicular", "17 vesicular nucleotide", "transporter member", "carrier family 17 vesicular", "family 17 vesicular nucleotide", "17 vesicular nucleotide transporter", "nucleotide transporter member", "transporter member 9", "transporter slc17a9", "nucleotide transporter slc17a9", "vesicular nucleotide transporter slc17a9", "isoform", "slc17a9 isoform", "isoform 2", "uniporter slc17a9 isoform", "slc17a9 isoform 2", "nucleotide uniporter slc17a9 isoform", "uniporter slc17a9 isoform 2", "purine nucleotide uniporter slc17a9 isoform", "nucleotide uniporter slc17a9 isoform 2" ] }, { "record_id": "MONDO:0014483", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014483", "0014483", "mim:616079", "616079" ] }, { "record_id": "MONDO:0014483", "record_type": "disease", "section": "disease_name", "phraselist": [ "retinal", "dystrophy", "with", "inner", "dysfunction", "and", "ganglion", "cell", "anomalies", "retinal dystrophy", "dystrophy with", "with inner", "inner retinal", "retinal dysfunction", "dysfunction and", "and ganglion", "ganglion cell", "cell anomalies", "retinal dystrophy with", "dystrophy with inner", "with inner retinal", "inner retinal dysfunction", "retinal dysfunction and", "dysfunction and ganglion", "and ganglion cell", "ganglion cell anomalies", "retinal dystrophy with inner", "dystrophy with inner retinal", "with inner retinal dysfunction", "inner retinal dysfunction and", "retinal dysfunction and ganglion", "dysfunction and ganglion cell", "and ganglion cell 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"section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014483", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y287", "q9y287 1", "itm2b_human", "np_068839", "glycoprotein", "itm2b", "abri", "bri2", "bricd2b", "bri", "e25b", "e3", "16", "e3 16", "fbd", "rdgca", "imbri2" ] }, { "record_id": "MONDO:0014483", "record_type": "disease", "section": "proteins", "phraselist": [ "integral", "membrane", "protein", "2b", "integral membrane", "membrane protein", "protein 2b", "integral membrane protein", "membrane protein 2b", "integral membrane protein 2b", "abri/adan", "amyloid", "peptide", "abri/adan amyloid", "amyloid peptide", "abri/adan amyloid peptide", "abri23", "brichos", "domain", "containing", "brichos domain", "domain containing", "containing 2b", "brichos domain containing", "domain containing 2b", "brichos domain containing 2b", "bri", "terminal", "c terminal", "terminal peptide", "c terminal peptide", "immature", "bri2", "immature bri2", "mature", "mature bri2", "p23", "p23 peptide", "e25b", "protein e25b", "transmembrane", "transmembrane protein", "protein bri", "transmembrane protein bri", "epididymis", "secretory", "sperm", "binding", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "imbri2", "mbri2" ] }, { "record_id": "MONDO:0014488", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014488", "0014488", "mim:616087", "616087" ] }, { "record_id": "MONDO:0014488", "record_type": "disease", "section": "disease_name", "phraselist": [ "diabetes", "mellitus", "noninsulin", "dependent", "diabetes mellitus", "noninsulin dependent", "mellitus noninsulin", "dependent 5", "diabetes mellitus 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"record_id": "MONDO:0014704", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014704", "record_type": "disease", "section": "proteins", "phraselist": [ "p09619", "p09619 1", "pgfrb_human", "np_002600", "glycoprotein", "pdgfrb", "cd140b", "ibgc4", "imf1", "jtk12", "kogs", "opdkd", "pdgfr", "pdgfr 1", "pdgfr1", "pentt" ] }, { "record_id": "MONDO:0014704", "record_type": "disease", "section": "proteins", "phraselist": [ "platelet", "derived", "growth", "factor", "receptor", "beta", "platelet derived", "derived growth", "growth factor", "factor receptor", "receptor beta", "platelet derived growth", "derived growth factor", "growth factor receptor", "factor receptor beta", "platelet derived growth factor", "derived growth factor receptor", "growth factor receptor beta", "platelet derived growth factor receptor", "derived growth factor receptor beta", 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"diap1", "drf1", "lfhl1", "scbms", "hdia1", "mdia1" ] }, { "record_id": "MONDO:0014714", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "diaphanous", "homolog", "protein diaphanous", "diaphanous homolog", "homolog 1", "protein diaphanous homolog", "diaphanous homolog 1", "protein diaphanous homolog 1", "drf1", "related", "formin", "diaphanous related", "related formin", "formin 1", "diaphanous related formin", "related formin 1", "diaphanous related formin 1", "mammalian", "mammalian diaphanous", "mammalian diaphanous related", "mammalian diaphanous related formin", "mammalian diaphanous related formin 1", "isoform", "1 isoform", "isoform 2", "homolog 1 isoform", "1 isoform 2", "diaphanous homolog 1 isoform", "homolog 1 isoform 2", "protein diaphanous homolog 1 isoform", "diaphanous homolog 1 isoform 2" ] }, { "record_id": "MONDO:0014716", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014716", "0014716", "mim:616638", "616638" ] }, { "record_id": "MONDO:0014716", "record_type": "disease", "section": "disease_name", "phraselist": [ "macrocephaly", "intellectual", "disability", "neurodevelopmental", "disorder", "small", "thorax", "syndrome", "macrocephaly intellectual", "intellectual disability", "disability neurodevelopmental", "neurodevelopmental disorder", "disorder small", "small thorax", "thorax syndrome", "macrocephaly intellectual disability", "intellectual disability neurodevelopmental", "disability neurodevelopmental disorder", "neurodevelopmental disorder small", "disorder small thorax", "small thorax syndrome", "macrocephaly intellectual disability neurodevelopmental", "intellectual disability neurodevelopmental disorder", "disability neurodevelopmental disorder small", "neurodevelopmental disorder small thorax", "disorder small thorax syndrome", "macrocephaly intellectual disability neurodevelopmental disorder", "intellectual disability neurodevelopmental disorder small", "disability 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"glutaredoxin 5 homolog", "precursor", "mitochondrial precursor", "5 mitochondrial precursor", "protein 5 mitochondrial precursor" ] }, { "record_id": "MONDO:0014806", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014806", "0014806", "mim:616866", "616866" ] }, { "record_id": "MONDO:0014806", "record_type": "disease", "section": "disease_name", "phraselist": [ "spinal", "muscular", "atrophy", "with", "congenital", "bone", "fractures", "spinal muscular", "muscular atrophy", "atrophy with", "with congenital", "congenital bone", "bone fractures", "fractures 1", "spinal muscular atrophy", "muscular atrophy with", "atrophy with congenital", "with congenital bone", "congenital bone fractures", "bone fractures 1", "spinal muscular atrophy with", "muscular atrophy with congenital", "atrophy with congenital bone", "with congenital bone fractures", "congenital bone fractures 1", "spinal muscular atrophy with congenital", "muscular atrophy with congenital bone", 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"disease", "section": "proteins", "phraselist": [ "activating", "signal", "cointegrator", "complex", "subunit", "activating signal", "signal cointegrator", "cointegrator 1", "1 complex", "complex subunit", "subunit 1", "activating signal cointegrator", "signal cointegrator 1", "cointegrator 1 complex", "1 complex subunit", "complex subunit 1", "activating signal cointegrator 1", "signal cointegrator 1 complex", "cointegrator 1 complex subunit", "1 complex subunit 1", "activating signal cointegrator 1 complex", "signal cointegrator 1 complex subunit", "cointegrator 1 complex subunit 1", "asc", "p50", "asc 1", "subunit p50", "asc 1 complex", "complex subunit p50", "asc 1 complex subunit", "1 complex subunit p50", "asc 1 complex subunit p50", "trip4", "trip4 complex", "trip4 complex subunit", "trip4 complex subunit p50", "isoform", "1 isoform", "isoform b", "subunit 1 isoform", "1 isoform b", "complex subunit 1 isoform", "subunit 1 isoform b", "1 complex subunit 1 isoform", "complex 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multiple", "multiple types susceptibility", "types susceptibility to" ] }, { "record_id": "MONDO:0014809", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014809", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ujv9", "q9ujv9 1", "ddx41_human", "np_001308661", "glycoprotein", "ddx41", "abs", "mplpf" ] }, { "record_id": "MONDO:0014809", "record_type": "disease", "section": "proteins", "phraselist": [ "probable", "atp", "dependent", "rna", "helicase", "ddx41", "probable atp", "atp dependent", "dependent rna", "rna helicase", "helicase ddx41", "probable atp dependent", "atp dependent rna", "dependent rna helicase", "rna helicase ddx41", "probable atp dependent rna", "atp dependent rna helicase", "dependent rna helicase ddx41", "probable atp dependent rna helicase", "atp dependent rna helicase ddx41", "3.6.4.13", "abstrakt", "dead", "asp", "glu", "ala", "box", "polypeptide", "41", "asp glu", "glu ala", "ala asp", "box polypeptide", "polypeptide 41", "dead asp", "asp glu ala", "glu ala asp", "asp box", "box polypeptide 41", "dead asp glu", "asp glu ala asp", "ala asp box", "asp box polypeptide", "dead asp glu ala", "glu ala asp box", "ala asp box polypeptide", "asp box polypeptide 41", "protein", "dead box", "box protein", "protein 41", "dead box protein", "box protein 41", "dead box protein 41", "homolog", "protein abstrakt", "abstrakt homolog", "box protein abstrakt", "protein abstrakt homolog", "dead box protein abstrakt", "box protein abstrakt homolog", "dead box protein abstrakt homolog", "isoform", "ddx41 isoform", "isoform 2", "helicase ddx41 isoform", "ddx41 isoform 2", "rna helicase ddx41 isoform", "helicase ddx41 isoform 2", "dependent rna helicase ddx41 isoform", "rna helicase ddx41 isoform 2", "putative", "putative rna", "putative rna helicase" ] }, { "record_id": "MONDO:0014816", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014816", "0014816", "mim:616890", "616890" ] }, { "record_id": "MONDO:0014816", "record_type": "disease", "section": "disease_name", "phraselist": [ "split", "foot", "malformation", "mesoaxial", "polydactyly", "syndrome", "split foot", "foot malformation", "malformation mesoaxial", "mesoaxial polydactyly", "polydactyly syndrome", "split foot malformation", "foot malformation mesoaxial", "malformation mesoaxial polydactyly", "mesoaxial polydactyly syndrome", "split foot malformation mesoaxial", "foot malformation mesoaxial polydactyly", "malformation mesoaxial polydactyly syndrome", "split foot malformation mesoaxial polydactyly", "foot malformation mesoaxial polydactyly syndrome", "sfmmp", "with", "malformation with", "with mesoaxial", "foot malformation with", "malformation with mesoaxial", "with mesoaxial polydactyly", "split foot malformation with", "foot malformation with mesoaxial", "malformation with mesoaxial polydactyly", "split 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"abnormalities sensorineural hearing loss syndrome" ] }, { "record_id": "MONDO:0014816", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014816", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nyl2", "q9nyl2 1", "m3k20_human", "np_057737", "glycoprotein", "map3k20", "azk", "cnm6", "hccs4", "mlk7", "mltkalpha", "mltkbeta", "mltk", "mlt", "mrk", "sfmmp", "zak", "mlklak", "pk" ] }, { "record_id": "MONDO:0014816", "record_type": "disease", "section": "proteins", "phraselist": [ "mitogen", "activated", "protein", "kinase", "20", "mitogen activated", "activated protein", "protein kinase", "kinase kinase", "kinase 20", "mitogen activated protein", "activated protein kinase", "protein kinase kinase", "kinase kinase kinase", "kinase kinase 20", "mitogen activated protein kinase", "activated protein kinase kinase", "protein kinase kinase 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"lineage kinase related kinase mrk", "kinase related kinase mrk beta", "sterile alpha motif and leucine", "alpha motif and leucine zipper", "motif and leucine zipper containing" ] }, { "record_id": "MONDO:0014821", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014821", "0014821", "mim:616897", "616897" ] }, { "record_id": "MONDO:0014821", "record_type": "disease", "section": "disease_name", "phraselist": [ "complex", "lethal", "osteochondrodysplasia", "complex lethal", "lethal osteochondrodysplasia", "complex lethal osteochondrodysplasia", "symoens", "barnes", "gistelinck", "type", "symoens barnes", "barnes gistelinck", "gistelinck type", "osteochondrodysplasia symoens", "symoens barnes gistelinck", "barnes gistelinck type", "lethal osteochondrodysplasia symoens", "osteochondrodysplasia symoens barnes", "symoens barnes gistelinck type", "complex lethal osteochondrodysplasia symoens", "lethal osteochondrodysplasia symoens barnes", "osteochondrodysplasia 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oxoglutarate", "proline 2 oxoglutarate 4", "2 oxoglutarate 4 dioxygenase", "oxoglutarate 4 dioxygenase subunit", "4 dioxygenase subunit alpha", "dioxygenase subunit alpha 2", "procollagen proline 2 oxoglutarate 4", "proline 2 oxoglutarate 4 dioxygenase", "2 oxoglutarate 4 dioxygenase subunit", "oxoglutarate 4 dioxygenase subunit alpha", "4 dioxygenase subunit alpha 2", "collagen", "collagen prolyl", "hydroxylase alpha", "alpha ii", "collagen prolyl 4", "4 hydroxylase alpha", "hydroxylase alpha ii", "collagen prolyl 4 hydroxylase", "prolyl 4 hydroxylase alpha", "4 hydroxylase alpha ii", "collagen prolyl 4 hydroxylase alpha", "prolyl 4 hydroxylase alpha ii", "lncrna", "promotes", "epithelial", "mesenchymal", "transition", "lncrna promotes", "promotes epithelial", "epithelial mesenchymal", "mesenchymal transition", "lncrna promotes epithelial", "promotes epithelial mesenchymal", "epithelial mesenchymal transition", "lncrna promotes epithelial mesenchymal", "promotes epithelial mesenchymal 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protein 4", "hepatocellular carcinoma associated protein 4", "mage", "g1", "antigen", "mage g1", "g1 antigen", "mage g1 antigen", "melanoma", "melanoma associated", "associated antigen", "antigen g1", "melanoma associated antigen", "associated antigen g1", "melanoma associated antigen g1", "nse3", "smc5", "smc6", "complex", "component", "nse3 homolog", "smc5 smc6", "smc6 complex", "complex component", "homolog smc5", "smc5 smc6 complex", "smc6 complex component", "nse3 homolog smc5", "homolog smc5 smc6", "smc5 smc6 complex component", "nse3 homolog smc5 smc6", "homolog smc5 smc6 complex", "necdin", "like", "necdin like", "like protein", "protein 2", "necdin like protein", "like protein 2", "necdin like protein 2", "smc", "non smc", "smc element", "non smc element", "smc element 3", "non smc element 3", "smc element 3 homolog", "non smc element 3 homolog", "hca4", "protein hca4", "associated protein hca4", "carcinoma associated protein hca4", "hepatocellular carcinoma associated protein hca4", "family", "melanoma antigen", "family g", "antigen family", "g 1", "melanoma antigen family", "antigen family g", "family g 1", "melanoma antigen family g", "like 2", "necdin like 2", "2 smc5", "like 2 smc5", "2 smc5 smc6", "necdin like 2 smc5", "like 2 smc5 smc6", "2 smc5 smc6 complex", "gene", "like gene", "gene 2", "necdin like gene", "like gene 2", "necdin like gene 2" ] }, { "record_id": "MONDO:0014989", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014989", "0014989", "mim:617251", "617251" ] }, { "record_id": "MONDO:0014989", "record_type": "disease", "section": "disease_name", "phraselist": [ "uncombable", "hair", "syndrome", "uncombable hair", "hair syndrome", "syndrome 2", "uncombable hair syndrome", "hair syndrome 2", "uncombable hair syndrome 2", "tgm3", "tgm3 uncombable", "tgm3 uncombable hair", "tgm3 uncombable hair syndrome", "uhs2", "2 uhs2", "syndrome 2 uhs2", "hair syndrome 2 uhs2", "caused", "by", "mutation", "in", "syndrome 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"record_id": "MONDO:0014989", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "glutamine", "gamma", "glutamyltransferase", "protein glutamine", "glutamine gamma", "gamma glutamyltransferase", "glutamyltransferase e", "protein glutamine gamma", "glutamine gamma glutamyltransferase", "gamma glutamyltransferase e", "protein glutamine gamma glutamyltransferase", "glutamine gamma glutamyltransferase e", "protein glutamine gamma glutamyltransferase e", "2.3.2.13", "polypeptide", "e polypeptide", "polypeptide protein", "e polypeptide protein", "polypeptide protein glutamine", "e polypeptide protein glutamine", "polypeptide protein glutamine gamma", "tg", "tg e", "tge", "tgase", "tgase e", "tgase 3", "transglutaminase", "transglutaminase e", "transglutaminase 3" ] }, { "record_id": "MONDO:0014990", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0014990", "0014990", "mim:617252", "617252" ] }, { "record_id": "MONDO:0014990", "record_type": 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"hypotonia seizures and", "seizures and absent language", "ndhsal", "language ndhsal", "absent language ndhsal", "and absent language ndhsal" ] }, { "record_id": "MONDO:0014995", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014995", "record_type": "disease", "section": "proteins", "phraselist": [ "q9p2p5", "q9p2p5 1", "hecw2_human", "np_065811", "glycoprotein", "hecw2", "kiaa1301", "ndhsal", "nedl2" ] }, { "record_id": "MONDO:0014995", "record_type": "disease", "section": "proteins", "phraselist": [ "e3", "ubiquitin", "protein", "ligase", "hecw2", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase hecw2", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase hecw2", "e3 ubiquitin protein ligase", "ubiquitin protein ligase hecw2", "e3 ubiquitin protein ligase hecw2", "2.3.2.26", "isoform", "hecw2 isoform", "isoform 1", "ligase 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"human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0014999", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h772", "q9h772 1", "grem2_human", "np_071914", "glycoprotein", "grem2", "cktsf1b2", "dand3", "prdc", "sthag9" ] }, { "record_id": "MONDO:0014999", "record_type": "disease", "section": "proteins", "phraselist": [ "gremlin", "gremlin 2", "cysteine", "knot", "superfamily", "bmp", "antagonist", "cysteine knot", "knot superfamily", "superfamily 1", "bmp antagonist", "antagonist 2", "cysteine knot superfamily", "knot superfamily 1", "1 bmp", "bmp antagonist 2", "cysteine knot superfamily 1", "superfamily 1 bmp", "1 bmp antagonist", "knot superfamily 1 bmp", "superfamily 1 bmp antagonist", "1 bmp antagonist 2", "dan", "domain", "family", "member", "dan domain", "domain family", "family member", "member 3", "dan domain family", "domain family member", "family member 3", "dan domain family member", "domain family member 3", "dan domain family 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group diego", "group diego system", "obsolete blood group diego", "blood group diego system", "di" ] }, { "record_id": "MONDO:0020610", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020610", "record_type": "disease", "section": "proteins", "phraselist": [ "p02730", "p02730 1", "b3at_human", "np_000333", "glycoprotein", "slc4a1", "ae1", "bnd3", "cd233", "chc", "di", "empb3", "epb3", "fr", "rta1a", "sao", "sph4", "sw", "wd1", "wd", "wr" ] }, { "record_id": "MONDO:0020610", "record_type": "disease", "section": "proteins", "phraselist": [ "band", "anion", "transport", "protein", "band 3", "3 anion", "anion transport", "transport protein", "band 3 anion", "3 anion transport", "anion transport protein", "band 3 anion transport", "3 anion transport protein", "band 3 anion transport protein", "ae", "ae 1", "exchange", "anion exchange", "exchange protein", "protein 1", "anion exchange protein", "exchange protein 1", "anion exchange protein 1", "exchanger", "anion exchanger", "exchanger 1", "anion exchanger 1", "froese", "blood", "group", "froese blood", "blood group", "froese blood group", "solute", "carrier", "family", "member", "solute carrier", "carrier family", "family 4", "4 member", "member 1", "solute carrier family", "carrier family 4", "family 4 member", "4 member 1", "solute carrier family 4", "carrier family 4 member", "family 4 member 1", "solute carrier family 4 member", "carrier family 4 member 1", "swann", "swann blood", "swann blood group", "waldner", "waldner blood", "waldner blood group", "wright", "wright blood", "wright blood group", "3 anion exchanger", "band 3 anion exchanger", "erythrocyte", "membrane", "erythrocyte membrane", "membrane protein", "protein band", "erythrocyte membrane protein", "membrane protein band", "protein band 3", "erythrocyte membrane protein band", "membrane protein band 3", "erythrocyte membrane protein band 3", "erythroid", "erythroid anion", "erythroid anion exchange", "erythroid anion exchange protein", "diego", "diego blood", "4 anion", "1 diego", "diego blood group", "family 4 anion", "4 anion exchanger", "exchanger member", "member 1 diego", "1 diego blood", "carrier family 4 anion", "family 4 anion exchanger", "anion exchanger member", "exchanger member 1", "member 1 diego blood", "1 diego blood group", "1 erythrocyte", "3 diego", "member 1 erythrocyte", "1 erythrocyte membrane", "band 3 diego", "3 diego blood", "anion exchanger member 1", "member 1 erythrocyte membrane", "1 erythrocyte membrane protein", "protein band 3 diego", "band 3 diego blood", "3 diego blood group", "number", "number 1", "exchanger number", "anion exchanger number", "exchanger number 1", "anion exchanger number 1" ] }, { "record_id": "MONDO:0020611", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020611", "0020611" ] }, { "record_id": "MONDO:0020611", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "kell", "system", "obsolete blood", "blood group", "kell system", "obsolete blood group", "group kell", "blood group kell", "group kell system", "obsolete blood group kell", "blood group kell system", "kel" ] }, { "record_id": "MONDO:0020611", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020611", "record_type": "disease", "section": "proteins", "phraselist": [ "p23276", "p23276 1", "kell_human", "np_000411", "glycoprotein", "kel", "cd238", "ece3", "kell" ] }, { "record_id": "MONDO:0020611", "record_type": "disease", "section": "proteins", "phraselist": [ "kell", "blood", "group", "glycoprotein", "kell blood", "blood group", "group glycoprotein", "kell blood group", "blood group glycoprotein", "kell blood group glycoprotein", "3.4.24.", "antigen", "group antigen", "blood group antigen", "kell blood group antigen", "protein", "group protein", "blood group protein", "kell blood group protein", "metallo", "endopeptidase", "metallo endopeptidase", "group metallo", "blood group metallo", "group metallo endopeptidase", "kell blood group metallo", "blood group metallo endopeptidase", "kell glycoprotein", "bloodgroup", "kel", "bloodgroup kel", "kel protein", "bloodgroup kel protein" ] }, { "record_id": "MONDO:0020612", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020612", "0020612" ] }, { "record_id": "MONDO:0020612", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "kidd", "system", "obsolete blood", "blood group", "kidd system", "obsolete blood group", "group kidd", "blood group kidd", "group kidd system", "obsolete blood group kidd", "blood group kidd system", "jk" ] }, { "record_id": "MONDO:0020612", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020612", "record_type": "disease", "section": "proteins", "phraselist": [ "q13336", "q13336 1", "ut1_human", "np_001122060", "glycoprotein", "slc14a1", "hut11a", "hut11", "hst1341", "jk", "jk a", "jk b", "rach1", "rach2", "ut", "b1", "ut b1", "ut1", "ute" ] }, { "record_id": "MONDO:0020612", "record_type": "disease", "section": "proteins", "phraselist": [ "urea", "transporter", "urea transporter", "transporter 1", "urea transporter 1", "kidd", "blood", "group", "antigen", "kidd blood", "blood group", "group antigen", "kidd blood group", "blood group antigen", "kidd blood group antigen", "slc14a1", "jk", "slc14a1 jk", "solute", "carrier", "family", "14", "member", "solute carrier", "carrier family", "family 14", "14 member", "member 1", "solute carrier family", "carrier family 14", "family 14 member", "14 member 1", "solute carrier family 14", "carrier family 14 member", "family 14 member 1", "solute carrier family 14 member", "carrier family 14 member 1", "erythrocyte", "transporter erythrocyte", "urea transporter erythrocyte", "mutant", "mutant kidd", "mutant kidd blood", "mutant kidd blood group", "mutant kidd blood group antigen", "14 urea", "1 kidd", "family 14 urea", "14 urea transporter", "transporter member", "member 1 kidd", "1 kidd blood", "carrier family 14 urea", "family 14 urea transporter", "urea transporter member", "transporter member 1", "member 1 kidd blood", "1 kidd blood group", "isoform", "1 isoform", "isoform 1", "transporter 1 isoform", "1 isoform 1", "urea transporter 1 isoform", "transporter 1 isoform 1", "urea transporter 1 isoform 1", "glycoprotein", "transporter jk", "jk glycoprotein", "urea transporter jk", "transporter jk glycoprotein", "urea transporter jk glycoprotein", "b1", "transporter b1", "urea transporter b1" ] }, { "record_id": "MONDO:0020614", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020614", "0020614" ] }, { "record_id": "MONDO:0020614", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "lutheran", "system", "obsolete blood", "blood group", "lutheran system", "obsolete blood group", "group lutheran", "blood group lutheran", "group lutheran system", "obsolete blood group lutheran", "blood group lutheran system", "auberger", "auberger system", "group auberger", "blood group auberger", "group auberger system", "blood group auberger system", "lu" ] }, { "record_id": "MONDO:0020614", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020614", "record_type": "disease", "section": "proteins", "phraselist": [ "p50895", "p50895 1", "bcam_human", "np_001013275", "glycoprotein", "bcam", "au", "cam", "b cam", "cd239", "f8/g253", "lu", "msk19" ] }, { "record_id": "MONDO:0020614", "record_type": "disease", "section": "proteins", "phraselist": [ "basal", "cell", "adhesion", "molecule", "basal cell", "cell adhesion", "adhesion molecule", "basal cell adhesion", "cell adhesion molecule", "basal cell adhesion molecule", "auberger", "antigen", "auberger b", "b antigen", "auberger b antigen", "cam", "surface", "glycoprotein", "b cam", "cam cell", "cell surface", "surface glycoprotein", "b cam cell", "cam cell surface", "cell surface glycoprotein", "b cam cell surface", "cam cell surface glycoprotein", "b cam cell surface glycoprotein", "b cell", "b cell adhesion", "b cell adhesion molecule", "f8/g253", "f8/g253 antigen", "lutheran", "lutheran antigen", "blood", "group", "lutheran blood", "blood group", "group glycoprotein", "lutheran blood group", "blood group glycoprotein", "lutheran blood group glycoprotein", "variant", "luga", "group variant", "variant luga", "blood group variant", "group variant luga", "lutheran blood group variant", "blood group variant luga", "lutheran blood group variant luga", "lu", "and", "au", "groups", "lu and", "and au", "au blood", "blood groups", "molecule lu", "lu and au", "and au blood", "au blood groups", "adhesion molecule lu", "molecule lu and", "lu and au blood", "and au blood groups", "cell adhesion molecule lu", "adhesion molecule lu and", "molecule lu and au", "lu and au blood groups", "isoform", "precursor", "molecule isoform", "isoform 2", "2 precursor", "adhesion molecule isoform", "molecule isoform 2", "isoform 2 precursor", "cell adhesion molecule isoform", "adhesion molecule isoform 2", "molecule isoform 2 precursor", "basal cell adhesion molecule isoform", "cell adhesion molecule isoform 2", "adhesion molecule isoform 2 precursor" ] }, { "record_id": "MONDO:0020615", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020615", "0020615" ] }, { "record_id": "MONDO:0020615", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "system", "landsteiner", "wiener", "obsolete blood", "blood group", "group system", "landsteiner wiener", "obsolete blood group", "blood group system", "system landsteiner", "obsolete blood group system", "group system landsteiner", "system landsteiner wiener", "blood group system landsteiner", "group system landsteiner wiener", "group landsteiner", "blood group landsteiner", "group landsteiner wiener", "blood group landsteiner wiener", "lw" ] }, { "record_id": "MONDO:0020615", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020615", "record_type": "disease", "section": "proteins", "phraselist": [ "q14773", "q14773 1", "icam4_human", "np_001034221", "glycoprotein", "icam4", "cd242", "lw" ] }, { "record_id": "MONDO:0020615", "record_type": "disease", "section": "proteins", "phraselist": [ "intercellular", "adhesion", "molecule", "intercellular adhesion", "adhesion molecule", "molecule 4", "intercellular adhesion molecule", "adhesion molecule 4", "intercellular adhesion molecule 4", "cd242", "antigen", "cd242 antigen", "icam", "icam 4", "lw", "lw antigen", "antigen a", "lw antigen a", "blood", "group", "protein", "lw blood", "blood group", "group protein", "lw blood group", "blood group protein", "lw blood group protein", "landsteiner", "wiener", "landsteiner wiener", "wiener blood", "group antigen", "landsteiner wiener blood", "wiener blood group", "blood group antigen", "group antigen a", "landsteiner wiener blood group", "wiener blood group antigen", "blood group antigen a", "landsteiner wiener blood group antigen", "wiener blood group antigen a", "glycoprotein", "group glycoprotein", "blood group glycoprotein", "wiener blood group glycoprotein", "landsteiner wiener blood group glycoprotein", "bloodgroup", "bloodgroup lw", "lw protein", "bloodgroup lw protein", "4 lw", "molecule 4 lw", "4 lw blood", "adhesion molecule 4 lw", "molecule 4 lw blood", "4 lw blood group", "isoform", "precursor", "4 isoform", "isoform 3", "3 precursor", "molecule 4 isoform", "4 isoform 3", "isoform 3 precursor", "adhesion molecule 4 isoform", "molecule 4 isoform 3", "4 isoform 3 precursor", "intercellular adhesion molecule 4 isoform", "adhesion molecule 4 isoform 3", "molecule 4 isoform 3 precursor" ] }, { "record_id": "MONDO:0020616", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020616", "0020616" ] }, { "record_id": "MONDO:0020616", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "mn", "obsolete blood", "blood group", "obsolete blood group", "group mn", "blood group mn", "obsolete blood group mn", "mnss", "system", "mnss system", "group mnss", "blood group mnss", "group mnss system", "blood group mnss system" ] }, { "record_id": "MONDO:0020616", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020616", "record_type": "disease", "section": "proteins", "phraselist": [ "p02724", "p02724 1", "glpa_human", "np_001295119", "glycoprotein", "gypa", "cd235a", "gpa", "gperik", "gpsat", "hgpmiv", "hgpmixi", "hgpsta", "hgpsta c", "mns", "mn", "pas", "pas 2" ] }, { "record_id": "MONDO:0020616", "record_type": "disease", "section": "proteins", "phraselist": [ "glycophorin", "glycophorin a", "mn", "sialoglycoprotein", "mn sialoglycoprotein", "mi.v", "glycoprotein", "24", "aa", "mi.v glycoprotein", "24 aa", "glycoprotein 24", "mi.v glycoprotein 24", "glycoprotein 24 aa", "mi.v glycoprotein 24 aa", "pas", "pas 2", "alpha", "sialoglycoprotein alpha", "erythroid", "lineage", "specific", "membrane", "erythroid lineage", "lineage specific", "specific membrane", "membrane sialoglycoprotein", "erythroid lineage specific", "lineage specific membrane", "specific membrane sialoglycoprotein", "erythroid lineage specific membrane", "lineage specific membrane sialoglycoprotein", "erythroid lineage specific membrane sialoglycoprotein", "blood", "group", "mn blood", "blood group", "a mn", "mn blood group", "glycophorin a mn", "a mn blood", "glycophorin a mn blood", "a mn blood group", "gpa", "a gpa", "glycophorin a gpa", "erik", "glycophorin erik", "mii", "glycophorin mii", "miv", "glycophorin miv", "sat", "glycophorin sat", "sta", "type", "glycophorin sta", "sta type", "type c", "glycophorin sta type", "sta type c", "glycophorin sta type c", "isoform", "precursor", "a isoform", "isoform 3", "3 precursor", "glycophorin a isoform", "a isoform 3", "isoform 3 precursor", "glycophorin a isoform 3", "a isoform 3 precursor", "glycophorin a isoform 3 precursor", "recombinant", "miltenberger", "dr", "recombinant glycophorin", "a b", "b miltenberger", "miltenberger dr", "recombinant glycophorin a", "glycophorin a b", "a b miltenberger", "b miltenberger dr", "recombinant glycophorin a b", "glycophorin a b miltenberger", "a b miltenberger dr", "recombinant glycophorin a b miltenberger", "glycophorin a b miltenberger dr" ] }, { "record_id": "MONDO:0020617", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020617", "0020617" ] }, { "record_id": "MONDO:0020617", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "ok", "obsolete blood", "blood group", "obsolete blood group", "group ok", "blood group ok", "obsolete blood group ok" ] }, { "record_id": "MONDO:0020617", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020617", "record_type": "disease", "section": "proteins", "phraselist": [ "p35613", "p35613 1", "basi_human", "np_001309172", "glycoprotein", "bsg", "5f7", "cd147", "emmprin", "emprin", "hab18g", "ok", "pro21383", "tcsf" ] }, { "record_id": "MONDO:0020617", "record_type": "disease", "section": "proteins", "phraselist": [ "basigin", "5f7", "collagenase", "stimulatory", "factor", "collagenase stimulatory", "stimulatory factor", "collagenase stimulatory factor", "emmprin", "extracellular", "matrix", "metalloproteinase", "inducer", "extracellular matrix", "matrix metalloproteinase", "metalloproteinase inducer", "extracellular matrix metalloproteinase", "matrix metalloproteinase inducer", "extracellular matrix metalloproteinase inducer", "hab18g", "hepatoma", "associated", "antigen", "hepatoma associated", "associated antigen", "hepatoma associated antigen", "leukocyte", "activation", "m6", "leukocyte activation", "activation antigen", "antigen m6", "leukocyte activation antigen", "activation antigen m6", "leukocyte activation antigen m6", "ok", "blood", "group", "ok blood", "blood group", "group antigen", "ok blood group", "blood group antigen", "ok blood group antigen", "tcsf", "tumor", "cell", "derived", "tumor cell", "cell derived", "derived collagenase", "tumor cell derived", "cell derived collagenase", "derived collagenase stimulatory", "tumor cell derived collagenase", "cell derived collagenase stimulatory", "derived collagenase stimulatory factor", "tumor cell derived collagenase stimulatory", "cell derived collagenase stimulatory factor", "isoform", "precursor", "basigin isoform", "isoform 2", "2 precursor", "basigin isoform 2", "isoform 2 precursor", "basigin isoform 2 precursor" ] }, { "record_id": "MONDO:0020619", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020619", "0020619" ] }, { "record_id": "MONDO:0020619", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "langereis", "system", "obsolete blood", "blood group", "langereis system", "obsolete blood group", "group langereis", "blood group langereis", "group langereis system", "obsolete blood group langereis", "blood group langereis system", "lan" ] }, { "record_id": "MONDO:0020619", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020619", "record_type": "disease", "section": "proteins", "phraselist": [ "q9np58", "q9np58 1", "abcb6_human", "np_005680", "glycoprotein", "abcb6", "abc", "lan", "mtabc3", "prp", "umat" ] }, { "record_id": "MONDO:0020619", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "binding", "cassette", "sub", "family", "member", "atp binding", "binding cassette", "cassette sub", "sub family", "family b", "b member", "member 6", "atp binding cassette", "binding cassette sub", "cassette sub family", "sub family b", "family b member", "b member 6", "atp binding cassette sub", "binding cassette sub family", "cassette sub family b", "sub family b member", "family b member 6", "atp binding cassette sub family", "binding cassette sub family b", "cassette sub family b member", "sub family b member 6", "7.6.2.5", "abc", "type", "heme", "transporter", "abcb6", "abc type", "type heme", "heme transporter", "transporter abcb6", "abc type heme", "type heme transporter", "heme transporter abcb6", "abc type heme transporter", "type heme transporter abcb6", "abc type heme transporter abcb6", "subfamily", "langereis", "blood", "group", "cassette subfamily", "subfamily b", "langereis blood", "blood group", "binding cassette subfamily", "cassette subfamily b", "subfamily b member", "6 langereis", "langereis blood group", "atp binding cassette subfamily", "binding cassette subfamily b", "cassette subfamily b member", "subfamily b member 6", "member 6 langereis", "6 langereis blood", "atp binding cassette subfamily b", "binding cassette subfamily b member", "cassette subfamily b member 6", "b member 6 langereis", "member 6 langereis blood", "6 langereis blood group", "half", "cassette half", "half transporter", "binding cassette half", "cassette half transporter", "atp binding cassette half", "binding cassette half transporter", "atp binding cassette half transporter", "isoform", "6 isoform", "isoform 1", "member 6 isoform", "6 isoform 1", "b member 6 isoform", "member 6 isoform 1", "family b member 6 isoform", "b member 6 isoform 1", "mdr/tap", "b mdr/tap", "family b mdr/tap", "mdr/tap member", "sub family b mdr/tap", "mdr/tap member 6", "mitochondrial", "mitochondrial abc", "abc transporter", "transporter 3", "mitochondrial abc transporter", "abc transporter 3", "mitochondrial abc transporter 3", "mt", "mt abc", "mt abc transporter", "mt abc transporter 3", "glycoprotein", "related", "protein", "p glycoprotein", "glycoprotein related", "related protein", "p glycoprotein related", "glycoprotein related protein", "p glycoprotein related protein", "ubiquitously", "expressed", "mammalian", "ubiquitously expressed", "expressed mammalian", "mammalian abc", "abc half", "ubiquitously expressed mammalian", "expressed mammalian abc", "mammalian abc half", "abc half transporter", "ubiquitously expressed mammalian abc", "expressed mammalian abc half", "mammalian abc half transporter", "ubiquitously expressed mammalian abc half", "expressed mammalian abc half transporter" ] }, { "record_id": "MONDO:0020620", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020620", "0020620" ] }, { "record_id": "MONDO:0020620", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "ss", "obsolete blood", "blood group", "obsolete blood group", "group ss", "blood group ss", "obsolete blood group ss" ] }, { "record_id": "MONDO:0020620", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020620", "record_type": "disease", "section": "proteins", "phraselist": [ "p06028", "p06028 1", "glpb_human", "np_001291311", "glycoprotein", "gypb", "cd235b", "gpb", "gyp", "mns", "pas", "pas 3", "ss" ] }, { "record_id": "MONDO:0020620", "record_type": "disease", "section": "proteins", "phraselist": [ "glycophorin", "glycophorin b", "pas", "pas 3", "ss", "active", "sialoglycoprotein", "ss active", "active sialoglycoprotein", "ss active sialoglycoprotein", "delta", "sialoglycoprotein delta", "blood", "group", "ss blood", "blood group", "ss blood group", "ss sialoglycoprotein", "system", "mnss", "mur", "like", "group system", "system mnss", "mur like", "blood group system", "group system mnss", "mnss mur", "blood group system mnss", "system mnss mur", "mnss mur like", "group system mnss mur", "system mnss mur like", "st", "type", "st a", "type e", "mnss st", "a type", "system mnss st", "mnss st a", "st a type", "a type e", "group system mnss st", "system mnss st a", "st a type e", "type f", "a type f", "st a type f", "antigen", "b blood", "group antigen", "glycophorin b blood", "b blood group", "blood group antigen", "glycophorin b blood group", "b blood group antigen", "glycophorin b blood group antigen", "mit+", "system ss", "group system ss", "ss s", "s mit+", "blood group system ss", "system ss s", "b blood group system", "group system ss s", "ss s mit+", "hop", "glycophorin hop", "isoform", "b isoform", "isoform 2", "glycophorin b isoform", "b isoform 2", "glycophorin b isoform 2", "hybrid", "kip", "hybrid glycophorin", "glycophorin kip", "hybrid glycophorin kip" ] }, { "record_id": "MONDO:0020621", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020621", "0020621" ] }, { "record_id": "MONDO:0020621", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "scianna", "system", "obsolete blood", "blood group", "scianna system", "obsolete blood group", "group scianna", "blood group scianna", "group scianna system", "obsolete blood group scianna", "blood group scianna system", "sc" ] }, { "record_id": "MONDO:0020621", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020621", "record_type": "disease", "section": "proteins", "phraselist": [ "q96pl5", "q96pl5 1", "ermap_human", "np_001017922", "glycoprotein", "ermap", "btn5", "pro2801", "rd", "sc" ] }, { "record_id": "MONDO:0020621", "record_type": "disease", "section": "proteins", "phraselist": [ "erythroid", "membrane", "associated", "protein", "erythroid membrane", "membrane associated", "associated protein", "erythroid membrane associated", "membrane associated protein", "erythroid membrane associated protein", "radin", "blood", "group", "rd", "radin blood", "blood group", "radin blood group", "group rd", "blood group rd", "radin blood group rd", "antigen", "group antigen", "blood group antigen", "radin blood group antigen", "scianna", "sc", "scianna blood", "scianna blood group", "group sc", "blood group sc", "scianna blood group sc", "scianna blood group antigen", "precursor", "protein precursor", "associated protein precursor", "membrane associated protein precursor", "erythroid membrane associated protein precursor", "hermap" ] }, { "record_id": "MONDO:0020624", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020624", "0020624" ] }, { "record_id": "MONDO:0020624", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "waldner", "type", "obsolete blood", "blood group", "waldner type", "obsolete blood group", "group waldner", "blood group waldner", "group waldner type", "obsolete blood group waldner", "blood group waldner type", "wd" ] }, { "record_id": "MONDO:0020624", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020624", "record_type": "disease", "section": "proteins", "phraselist": [ "p02730", "p02730 1", "b3at_human", "np_000333", "glycoprotein", "slc4a1", "ae1", "bnd3", "cd233", "chc", "di", "empb3", "epb3", "fr", "rta1a", "sao", "sph4", "sw", "wd1", "wd", "wr" ] }, { "record_id": "MONDO:0020624", "record_type": "disease", "section": "proteins", "phraselist": [ "band", "anion", "transport", "protein", "band 3", "3 anion", "anion transport", "transport protein", "band 3 anion", "3 anion transport", "anion transport protein", "band 3 anion transport", "3 anion transport protein", "band 3 anion transport protein", "ae", "ae 1", "exchange", "anion exchange", "exchange protein", "protein 1", "anion exchange protein", "exchange protein 1", "anion exchange protein 1", "exchanger", "anion exchanger", "exchanger 1", "anion exchanger 1", "froese", "blood", "group", "froese blood", "blood group", "froese blood group", "solute", "carrier", "family", "member", "solute carrier", "carrier family", "family 4", "4 member", "member 1", "solute carrier family", "carrier family 4", "family 4 member", "4 member 1", "solute carrier family 4", "carrier family 4 member", "family 4 member 1", "solute carrier family 4 member", "carrier family 4 member 1", "swann", "swann blood", "swann blood group", "waldner", "waldner blood", "waldner blood group", "wright", "wright blood", "wright blood group", "3 anion exchanger", "band 3 anion exchanger", "erythrocyte", "membrane", "erythrocyte membrane", "membrane protein", "protein band", "erythrocyte membrane protein", "membrane protein band", "protein band 3", "erythrocyte membrane protein band", "membrane protein band 3", "erythrocyte membrane protein band 3", "erythroid", "erythroid anion", "erythroid anion exchange", "erythroid anion exchange protein", "diego", "diego blood", "4 anion", "1 diego", "diego blood group", "family 4 anion", "4 anion exchanger", "exchanger member", "member 1 diego", "1 diego blood", "carrier family 4 anion", "family 4 anion exchanger", "anion exchanger member", "exchanger member 1", "member 1 diego blood", "1 diego blood group", "1 erythrocyte", "3 diego", "member 1 erythrocyte", "1 erythrocyte membrane", "band 3 diego", "3 diego blood", "anion exchanger member 1", "member 1 erythrocyte membrane", "1 erythrocyte membrane protein", "protein band 3 diego", "band 3 diego blood", "3 diego blood group", "number", "number 1", "exchanger number", "anion exchanger number", "exchanger number 1", "anion exchanger number 1" ] }, { "record_id": "MONDO:0020625", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020625", "0020625" ] }, { "record_id": "MONDO:0020625", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "wright", "antigen", "obsolete blood", "blood group", "wright antigen", "obsolete blood group", "group wright", "blood group wright", "group wright antigen", "obsolete blood group wright", "blood group wright antigen", "wr" ] }, { "record_id": "MONDO:0020625", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020625", "record_type": "disease", "section": "proteins", "phraselist": [ "p02730", "p02730 1", "b3at_human", "np_000333", "glycoprotein", "slc4a1", "ae1", "bnd3", "cd233", "chc", "di", "empb3", "epb3", "fr", "rta1a", "sao", "sph4", "sw", "wd1", "wd", "wr" ] }, { "record_id": "MONDO:0020625", "record_type": "disease", "section": "proteins", "phraselist": [ "band", "anion", "transport", "protein", "band 3", "3 anion", "anion transport", "transport protein", "band 3 anion", "3 anion transport", "anion transport protein", "band 3 anion transport", "3 anion transport protein", "band 3 anion transport protein", "ae", "ae 1", "exchange", "anion exchange", "exchange protein", "protein 1", "anion exchange protein", "exchange protein 1", "anion exchange protein 1", "exchanger", "anion exchanger", "exchanger 1", "anion exchanger 1", "froese", "blood", "group", "froese blood", "blood group", "froese blood group", "solute", "carrier", "family", "member", "solute carrier", "carrier family", "family 4", "4 member", "member 1", "solute carrier family", "carrier family 4", "family 4 member", "4 member 1", "solute carrier family 4", "carrier family 4 member", "family 4 member 1", "solute carrier family 4 member", "carrier family 4 member 1", "swann", "swann blood", "swann blood group", "waldner", "waldner blood", "waldner blood group", "wright", "wright blood", "wright blood group", "3 anion exchanger", "band 3 anion exchanger", "erythrocyte", "membrane", "erythrocyte membrane", "membrane protein", "protein band", "erythrocyte membrane protein", "membrane protein band", "protein band 3", "erythrocyte membrane protein band", "membrane protein band 3", "erythrocyte membrane protein band 3", "erythroid", "erythroid anion", "erythroid anion exchange", "erythroid anion exchange protein", "diego", "diego blood", "4 anion", "1 diego", "diego blood group", "family 4 anion", "4 anion exchanger", "exchanger member", "member 1 diego", "1 diego blood", "carrier family 4 anion", "family 4 anion exchanger", "anion exchanger member", "exchanger member 1", "member 1 diego blood", "1 diego blood group", "1 erythrocyte", "3 diego", "member 1 erythrocyte", "1 erythrocyte membrane", "band 3 diego", "3 diego blood", "anion exchanger member 1", "member 1 erythrocyte membrane", "1 erythrocyte membrane protein", "protein band 3 diego", "band 3 diego blood", "3 diego blood group", "number", "number 1", "exchanger number", "anion exchanger number", "exchanger number 1", "anion exchanger number 1" ] }, { "record_id": "MONDO:0020626", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020626", "0020626" ] }, { "record_id": "MONDO:0020626", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "yt", "blood", "group", "antigen", "obsolete yt", "yt blood", "blood group", "group antigen", "obsolete yt blood", "yt blood group", "blood group antigen", "obsolete yt blood group", "yt blood group antigen", "obsolete yt blood group antigen", "system", "yt system", "group yt", "blood group yt", "group yt system", "blood group yt system" ] }, { "record_id": "MONDO:0020626", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020626", "record_type": "disease", "section": "proteins", "phraselist": [ "p22303", "p22303 1", "aces_human", "np_000656", "glycoprotein", "ache", "acee", "arache", "n ache", "yt" ] }, { "record_id": "MONDO:0020626", "record_type": "disease", "section": "proteins", "phraselist": [ "acetylcholinesterase", "3.1.1.7", "ache", "yt", "blood", "group", "yt blood", "blood group", "yt blood group", "cartwright", "cartwright blood", "acetylcholinesterase cartwright", "cartwright blood group", "acetylcholinesterase cartwright blood", "acetylcholinesterase cartwright blood group", "isoform", "e4", "e6", "precursor", "acetylcholinesterase isoform", "isoform e4", "e4 e6", "e6 precursor", "acetylcholinesterase isoform e4", "isoform e4 e6", "e4 e6 precursor", "acetylcholinesterase isoform e4 e6", "isoform e4 e6 precursor", "acetylcholinesterase isoform e4 e6 precursor", "apoptosis", "related", "apoptosis related", "related acetylcholinesterase", "apoptosis related acetylcholinesterase" ] }, { "record_id": "MONDO:0020628", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020628", "0020628", "mim:618097", "618097" ] }, { "record_id": "MONDO:0020628", "record_type": "disease", "section": "disease_name", "phraselist": [ "microcephaly", "growth", "restriction", "and", "increased", "sister", "chromatid", "exchange", "growth restriction", "and increased", "increased sister", "sister chromatid", "chromatid exchange", "exchange 2", "microcephaly growth", "restriction and", "and increased sister", "increased sister chromatid", "sister chromatid exchange", "chromatid exchange 2", "microcephaly growth restriction", "growth restriction and", "restriction and increased", "and increased sister chromatid", "increased sister chromatid exchange", "sister chromatid exchange 2", "growth restriction and increased", "restriction and increased sister", "and increased sister chromatid exchange", "increased sister chromatid exchange 2", "mgrisce2" ] }, { "record_id": "MONDO:0020628", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020628", "record_type": "disease", "section": "proteins", "phraselist": [ "q13472", "q13472 1", "top3a_human", "np_001307688", "glycoprotein", "top3a", "mgrisce2", "peob5", "top3", "zgrf7" ] }, { "record_id": "MONDO:0020628", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "topoisomerase", "alpha", "dna topoisomerase", "topoisomerase 3", "3 alpha", "dna topoisomerase 3", "topoisomerase 3 alpha", "dna topoisomerase 3 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"phraselist": [ "microcephaly", "facial", "dysmorphism", "renal", "agenesis", "and", "ambiguous", "genitalia", "syndrome", "facial dysmorphism", "renal agenesis", "and ambiguous", "ambiguous genitalia", "genitalia syndrome", "microcephaly facial", "dysmorphism renal", "agenesis and", "and ambiguous genitalia", "ambiguous genitalia syndrome", "microcephaly facial dysmorphism", "facial dysmorphism renal", "dysmorphism renal agenesis", "renal agenesis and", "agenesis and ambiguous", "and ambiguous genitalia syndrome", "facial dysmorphism renal agenesis", "renal agenesis and ambiguous", "agenesis and ambiguous genitalia", "mfrg" ] }, { "record_id": "MONDO:0020647", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020647", "record_type": "disease", "section": "proteins", "phraselist": [ "q2vpk5", "q2vpk5 1", "ctu2_human", "np_001012777", "glycoprotein", "ctu2", "c16orf84", "mfrg", "ncs2", "upf0432" ] }, { "record_id": "MONDO:0020647", "record_type": "disease", "section": "proteins", "phraselist": [ "cytoplasmic", "trna", "thiolation", "protein", "cytoplasmic trna", "trna 2", "2 thiolation", "thiolation protein", "protein 2", "cytoplasmic trna 2", "trna 2 thiolation", "2 thiolation protein", "thiolation protein 2", "cytoplasmic trna 2 thiolation", "trna 2 thiolation protein", "2 thiolation protein 2", "cytoplasmic trna 2 thiolation protein", "trna 2 thiolation protein 2", "cytosolic", "thiouridylase", "subunit", "cytosolic thiouridylase", "thiouridylase subunit", "subunit 2", "cytosolic thiouridylase subunit", "thiouridylase subunit 2", "cytosolic thiouridylase subunit 2", "isoform", "2 isoform", "isoform 1", "protein 2 isoform", "2 isoform 1", "thiolation protein 2 isoform", "protein 2 isoform 1", "2 thiolation protein 2 isoform", "thiolation protein 2 isoform 1", "homolog", "2 homolog", "subunit 2 homolog", "thiouridylase subunit 2 homolog", "cytosolic thiouridylase subunit 2 homolog" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020705", "0020705", "mim:182940", "182940" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "disease_name", "phraselist": [ "neural", "tube", "defects", "susceptibility", "to", "neural tube", "tube defects", "susceptibility to", "neural tube defects", "defects susceptibility", "tube defects susceptibility", "defects susceptibility to", "neural tube defects susceptibility", "tube defects susceptibility to", "spina", "bifida", "spina bifida", "bifida susceptibility", "spina bifida susceptibility", "bifida susceptibility to", "spina bifida susceptibility to", "ntd" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "proteins", "phraselist": [ "q96mt3", "q96mt3 1", "pric1_human", "np_001138353", "glycoprotein", "prickle1", "epm1b", "rilp", "q9nyf0", "q9nyf0 1", "dact1_human", "np_001072988", "dact1", "dapper1", "dapper", "dpr1", "frodo", "hdpr1", "hng3", "tbs2", "thyex3", "q8tew0", "q8tew0 1", "pard3_human", "np_001171714", "pard3", "asip", "baz", "par3a", "par3alpha", "par3", "pard", "pard 3", "pard3a", "ppp1r118", "se2", "5l16", "se2 5l16", "5lt1", "se2 5lt1", "5t2", "se2 5t2", "q14160", "q14160 3", "scrib_human", "np_056171", "scrib", "crib1", "kiaa0147", "lap4", "scrb1", "scrib1", "vartul", "oscrib", "q9ulk5", "q9ulk5 1", "vang2_human", "np_065068", "vangl2", "kiaa1215", "lpp1", "ltap", "stb1", "stbm1", "stbm", "q8taa9", "q8taa9 1", "vang1_human", "np_001165882", "vangl1", "kitenin", "lpp2", "stb2", "stbm2", "o15178", "o15178 1", "tbxt_human", "np_001257413", "tbxt", "sava", "tft", "q9nyq6", "q9nyq6 1", "celr1_human", "np_055061", "celsr1", "adgrc1", "cdhf9", "fmi2", "hfmi2", "lmphm9", "me2", "yns", "q9h2d1", "q9h2d1 1", "s2532_human", "np_110407", "slc25a32", "glyb", "mftc", "mft", "rrei" ] }, { "record_id": "MONDO:0020705", "record_type": "disease", "section": "proteins", "phraselist": [ "prickle", "like", "protein", "prickle like", "like protein", "protein 1", "prickle like protein", "like protein 1", "prickle like protein 1", "rest", "re", "silencing", "transcription", "factor", "/nrsf", "neuron", "restrictive", "silencer", 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carcinoma novel gene", "carcinoma novel gene 3", "novel gene 3 protein", "hepatocellular carcinoma novel gene 3", "carcinoma novel gene 3 protein", "isoform", "1 isoform", "isoform 2", "homolog 1 isoform", "1 isoform 2", "dapper homolog 1 isoform", "homolog 1 isoform 2", "dapper homolog 1 isoform 2", "beta", "of beta", "beta catenin", "antagonist of beta", "of beta catenin", "catenin homolog", "antagonist of beta catenin", "beta catenin homolog", "catenin homolog 1", "dapper antagonist of beta", "of beta catenin homolog", "beta catenin homolog 1", "hdpr1", "heptacellular", "heptacellular carcinoma", "heptacellular carcinoma novel", "heptacellular carcinoma novel gene", "heptacellular carcinoma novel gene 3", "partitioning", "defective", "partitioning defective", "defective 3", "3 homolog", "partitioning defective 3", "defective 3 homolog", "partitioning defective 3 homolog", "asip", "atypical", "pkc", "isotype", "specific", "atypical pkc", "pkc isotype", "isotype specific", "specific interacting", "interacting protein", "atypical pkc isotype", "pkc isotype specific", "isotype specific interacting", "specific interacting protein", "atypical pkc isotype specific", "pkc isotype specific interacting", "isotype specific interacting protein", "atypical pkc isotype specific interacting", "pkc isotype specific interacting protein", "ctcl", "tumor", "antigen", "se2", "ctcl tumor", "tumor antigen", "antigen se2", "se2 5", "ctcl tumor antigen", "tumor antigen se2", "antigen se2 5", "ctcl tumor antigen se2", "tumor antigen se2 5", "ctcl tumor antigen se2 5", "par", "par 3", "par3", "alpha", "par3 alpha", "pard", "pard 3", "bazooka", "family", "cell", "polarity", "regulator", "3 family", "family cell", "cell polarity", "polarity regulator", "regulator alpha", "par 3 family", "3 family cell", "family cell polarity", "cell polarity regulator", "polarity regulator alpha", "par 3 family cell", "3 family cell polarity", "family cell polarity regulator", "cell polarity regulator alpha", "par 3 family cell polarity", "3 family cell polarity regulator", "family cell polarity regulator alpha", "3 partitioning", "par 3 partitioning", "3 partitioning defective", "par 3 partitioning defective", "3 partitioning defective 3", "par 3 partitioning defective 3", "3 partitioning defective 3 homolog", "homolog isoform", "3 homolog isoform", "homolog isoform 2", "defective 3 homolog isoform", "3 homolog isoform 2", "partitioning defective 3 homolog isoform", "defective 3 homolog isoform 2", "phosphatase", "regulatory", "subunit", "118", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 118", "protein phosphatase 1", "1 regulatory", "regulatory subunit 118", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 118", "scribble", "protein scribble", "scribble homolog", "protein scribble homolog", "lap4", "protein lap4", "hscrib", "isoform b", "scribble homolog 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transcription", "box transcription factor", "transcription factor t", "t box transcription factor", "box transcription factor t", "t box transcription factor t", "brachyury", "brachyury protein", "protein t", "t brachyury", "brachyury transcription", "t brachyury transcription", "brachyury transcription factor", "t brachyury transcription factor", "brachyury homolog", "t brachyury homolog", "t isoform", "factor t isoform", "t isoform 2", "transcription factor t isoform", "factor t isoform 2", "box transcription factor t isoform", "transcription factor t isoform 2", "cadherin", "egf", "lag", "seven", "pass", "type", "receptor", "cadherin egf", "egf lag", "lag seven", "seven pass", "pass g", "g type", "type receptor", "receptor 1", "cadherin egf lag", "egf lag seven", "lag seven pass", "seven pass g", "pass g type", "g type receptor", "type receptor 1", "cadherin egf lag seven", "egf lag seven pass", "lag seven pass g", "seven pass g type", "pass g type receptor", "g type receptor 1", "cadherin egf lag seven pass", "egf lag seven pass g", "lag seven pass g type", "seven pass g type receptor", "pass g type receptor 1", "member", "cadherin family", "family member", "member 9", "cadherin family member", "family member 9", "cadherin family member 9", "flamingo", "flamingo homolog", "homolog 2", "flamingo homolog 2", "adhesion", "coupled", "c1", "adhesion g", "g protein", "protein coupled", "coupled receptor", "receptor c1", "adhesion g protein", "g protein coupled", "protein coupled receptor", "coupled receptor c1", "adhesion g protein coupled", "g protein coupled receptor", "protein coupled receptor c1", "adhesion g protein coupled receptor", "g protein coupled receptor c1", "precursor", "2 precursor", "receptor 1 isoform", "isoform 2 precursor", "type receptor 1 isoform", "receptor 1 isoform 2", "1 isoform 2 precursor", "g type receptor 1 isoform", "type receptor 1 isoform 2", "receptor 1 isoform 2 precursor", "1 flamingo", "homolog drosophila", "receptor 1 flamingo", "1 flamingo homolog", "flamingo homolog drosophila", "type receptor 1 flamingo", "receptor 1 flamingo homolog", "hfmi2", "protocadherin", "protocadherin flamingo", "flamingo 2", "protocadherin flamingo 2", "solute", "carrier", "25", "32", "solute carrier", "carrier family", "family 25", "25 member", "member 32", "solute carrier family", "carrier family 25", "family 25 member", "25 member 32", "solute carrier family 25", "carrier family 25 member", "family 25 member 32", "solute carrier family 25 member", "carrier family 25 member 32", "glycine", "auxotroph", "complementation", "hamster", "glycine auxotroph", "auxotroph b", "complementation of", "of hamster", "glycine auxotroph b", "b complementation", "complementation of hamster", "auxotroph b complementation", "b complementation of", "glycine auxotroph b complementation", "auxotroph b complementation of", "b complementation of hamster", "mitochondrial", "fad", "transporter", "mitochondrial fad", "fad transporter", "mitochondrial fad transporter", "complementing", "glycine b", "b complementing", "glycine b complementing", "folate", "transporter/carrier", "mitochondrial folate", "folate transporter/carrier", "mitochondrial folate transporter/carrier", "folate carrier", "25 mitochondrial", "mitochondrial folate carrier", "family 25 mitochondrial", "25 mitochondrial folate", "carrier member", "carrier family 25 mitochondrial", "family 25 mitochondrial folate", "25 mitochondrial folate carrier", "folate carrier member", "carrier member 32" ] }, { "record_id": "MONDO:0020715", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020715", "0020715", "mim:146500", "146500" ] }, { "record_id": "MONDO:0020715", "record_type": "disease", "section": "disease_name", "phraselist": [ "multiple", "system", "atrophy", "susceptibility", "to", "multiple system", "system atrophy", "atrophy 1", "susceptibility to", "multiple system atrophy", "system atrophy 1", "1 susceptibility", "multiple system atrophy 1", 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"polyprenyltransferase mitochondrial", "hydroxybenzoate polyprenyltransferase mitochondrial", "4 hydroxybenzoate polyprenyltransferase mitochondrial", "2.5.1.39", "hb", "4 hb", "hb polyprenyltransferase", "4 hb polyprenyltransferase", "decaprenyltransferase", "hydroxybenzoate decaprenyltransferase", "4 hydroxybenzoate decaprenyltransferase", "isoform", "mitochondrial isoform", "isoform 1", "mitochondrial isoform 1", "polyprenyltransferase mitochondrial isoform", "hydroxybenzoate polyprenyltransferase mitochondrial isoform", "polyprenyltransferase mitochondrial isoform 1", "coq2", "homolog", "coq2 homolog", "phb:ppt", "phb:polyprenyltransferase", "para", "para hydroxybenzoate", "para hydroxybenzoate polyprenyltransferase", "coenzyme", "q2", "coenzyme q2", "q2 4", "coenzyme q2 4", "q2 4 hydroxybenzoate", "coenzyme q2 4 hydroxybenzoate", "q2 4 hydroxybenzoate polyprenyltransferase", "coenzyme q2 4 hydroxybenzoate polyprenyltransferase", "prenyltransferase", "q2 homolog", "coenzyme q2 homolog", "homolog prenyltransferase", "q2 homolog prenyltransferase", "coenzyme q2 homolog prenyltransferase", "hcoq2", "para hydroxybenzoate polyprenyltransferase mitochondrial" ] }, { "record_id": "MONDO:0020718", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020718", "0020718", "mim:615237", "615237" ] }, { "record_id": "MONDO:0020718", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "short", "bowel", "syndrome", "autosomal", "recessive", "congenital short", "short bowel", "bowel syndrome", "autosomal recessive", "congenital short bowel", "short bowel syndrome", "syndrome autosomal", "congenital short bowel syndrome", "bowel syndrome autosomal", "syndrome autosomal recessive", "short bowel syndrome autosomal", "bowel syndrome autosomal recessive", "csbs", "syndrome 1", "bowel syndrome 1", "short bowel syndrome 1", "congenital short bowel syndrome 1", "due", "to", "clmp", "variation", "syndrome due", "due to", "to clmp", "clmp variation", "bowel syndrome due", "syndrome due to", "due to clmp", "to clmp variation", "short bowel syndrome due", "bowel syndrome due to", "syndrome due to clmp", "due to clmp variation", "congenital short bowel syndrome due", "short bowel syndrome due to", "bowel syndrome due to clmp", "syndrome due to clmp variation" ] }, { "record_id": "MONDO:0020718", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020718", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h6b4", "q9h6b4 1", "clmp_human", "np_079045", "glycoprotein", "clmp", "acam", "asam", "csbm", "csbs", "pro363" ] }, { "record_id": "MONDO:0020718", "record_type": "disease", "section": "proteins", "phraselist": [ "cxadr", "like", "membrane", "protein", "cxadr like", "like membrane", "membrane protein", "cxadr like membrane", "like membrane protein", "cxadr like membrane protein", "adipocyte", "adhesion", "molecule", "adipocyte adhesion", "adhesion molecule", "adipocyte adhesion molecule", "car", "car like", "car like membrane", "car like membrane protein", "precursor", "protein precursor", "membrane protein precursor", "like membrane protein precursor", "cxadr like membrane protein precursor", "coxsackie", "and", "adenovirus", "receptor", "and adenovirus", "adenovirus receptor", "receptor like", "coxsackie and", "and adenovirus receptor", "adenovirus receptor like", "receptor like membrane", "coxsackie and adenovirus", "and adenovirus receptor like", "adenovirus receptor like membrane", "receptor like membrane protein", "coxsackie and adenovirus receptor", "and adenovirus receptor like membrane", "adenovirus receptor like membrane protein", "specific", "adipocyte specific", "specific adhesion", "adipocyte specific adhesion", "specific adhesion molecule", "adipocyte specific adhesion molecule" ] }, { "record_id": "MONDO:0020728", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020728", "0020728", "mim:220150", "220150" ] }, { "record_id": "MONDO:0020728", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypouricemia", "renal", "renal 1", "hypouricemia renal", "hypouricemia renal 1", "rhuc1", "type", "type 1", "renal type", "renal type 1", "hypouricemia renal type" ] }, { "record_id": "MONDO:0020728", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020728", "record_type": "disease", "section": "proteins", "phraselist": [ "q96s37", "q96s37 1", "s22ac_human", "np_001263255", "glycoprotein", "slc22a12", "oat4l", "oatl4", "pro34004", "rst", "uat", "urat1", "hurat1" ] }, { "record_id": "MONDO:0020728", "record_type": "disease", "section": "proteins", "phraselist": [ "solute", "carrier", "family", "22", "member", "12", "solute carrier", 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"record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020734", "0020734", "mim:612874", "612874" ] }, { "record_id": "MONDO:0020734", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "erythrocyte", "amp", "deaminase", "deficiency", "obsolete erythrocyte", "erythrocyte amp", "amp deaminase", "deaminase deficiency", "obsolete erythrocyte amp", "erythrocyte amp deaminase", "amp deaminase deficiency", "obsolete erythrocyte amp deaminase", "erythrocyte amp deaminase deficiency", "obsolete erythrocyte amp deaminase deficiency", "erythrocytic", "deficiency erythrocytic", "deaminase deficiency erythrocytic", "amp deaminase deficiency erythrocytic", "adenosine", "monophosphate", "type", "adenosine monophosphate", "monophosphate deaminase", "deficiency erythrocyte", "erythrocyte type", "adenosine monophosphate deaminase", "monophosphate deaminase deficiency", "deaminase deficiency erythrocyte", "deficiency erythrocyte type", "adenosine monophosphate deaminase deficiency", "monophosphate deaminase deficiency erythrocyte", "deaminase deficiency erythrocyte type", "adenosine monophosphate deaminase deficiency erythrocyte", "monophosphate deaminase deficiency erythrocyte type" ] }, { "record_id": "MONDO:0020734", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020734", "record_type": "disease", "section": "proteins", "phraselist": [ "q01432", "q01432 1", "ampd3_human", "np_000471", "glycoprotein", "ampd3" ] }, { "record_id": "MONDO:0020734", "record_type": "disease", "section": "proteins", "phraselist": [ "amp", "deaminase", "amp deaminase", "deaminase 3", "amp deaminase 3", "3.5.4.6", "aminohydrolase", "amp aminohydrolase", "isoform", "1a", "3 isoform", "isoform 1a", "deaminase 3 isoform", "3 isoform 1a", "amp deaminase 3 isoform", "deaminase 3 isoform 1a", "amp deaminase 3 isoform 1a", "deaminase isoform", "isoform e", "amp deaminase isoform", "deaminase isoform e", "amp deaminase isoform e", "erythrocyte", "erythrocyte amp", "erythrocyte amp deaminase", "adenosine", "monophosphate", "adenosine monophosphate", "monophosphate deaminase", "adenosine monophosphate deaminase", "monophosphate deaminase isoform", "adenosine monophosphate deaminase isoform", "monophosphate deaminase isoform e", "type", "erythrocyte type", "type amp", "erythrocyte type amp", "type amp deaminase", "erythrocyte type amp deaminase", "specific", "erythrocyte specific", "specific amp", "erythrocyte specific amp", "specific amp deaminase", "erythrocyte specific amp deaminase", "myoadenylate", "myoadenylate deaminase" ] }, { "record_id": "MONDO:0020736", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020736", "0020736", "mim:191480", "191480" ] }, { "record_id": "MONDO:0020736", "record_type": "disease", "section": "disease_name", "phraselist": [ "uncombable", "hair", "syndrome", "uncombable hair", "hair syndrome", "syndrome 1", "uncombable hair syndrome", "hair syndrome 1", "uncombable hair syndrome 1", "uhs1" ] }, { "record_id": "MONDO:0020736", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020736", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ulw8", "q9ulw8 1", "padi3_human", "np_057317", "padi3", "pad3", "pdi3", "uhs1" ] }, { "record_id": "MONDO:0020736", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "arginine", "deiminase", "type", "protein arginine", "arginine deiminase", "deiminase type", "type 3", "protein arginine deiminase", "arginine deiminase type", "deiminase type 3", "protein arginine deiminase type", "arginine deiminase type 3", "protein arginine deiminase type 3", "3.5.3.15", "peptidylarginine", "iii", "peptidylarginine deiminase", "deiminase iii", "peptidylarginine deiminase iii", "type iii", "deiminase type iii", "arginine deiminase type iii", "protein arginine deiminase type iii", "peptidyl", "peptidyl arginine", "peptidyl arginine deiminase", "peptidyl arginine deiminase type" ] }, { "record_id": "MONDO:0020745", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020745", "0020745", "mim:115000", "115000" ] }, { "record_id": "MONDO:0020745", "record_type": "disease", "section": "disease_name", "phraselist": [ "ventricular", "arrhythmias", "due", "to", "cardiac", "ryanodine", "receptor", "calcium", "release", "deficiency", "syndrome", "ventricular arrhythmias", "arrhythmias due", "due to", "to cardiac", "cardiac ryanodine", "ryanodine receptor", "receptor calcium", "calcium release", "release deficiency", "deficiency syndrome", "ventricular arrhythmias due", "arrhythmias due to", "due to cardiac", "to cardiac ryanodine", "cardiac ryanodine receptor", "ryanodine receptor calcium", "receptor calcium 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"record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0020745", "record_type": "disease", "section": "proteins", "phraselist": [ "q92736", "q92736 1", "ryr2_human", "np_001026", "glycoprotein", "ryr2", "arvc2", "arvd2", "ryr", "ryr 2", "vacrds", "vtsip" ] }, { "record_id": "MONDO:0020745", "record_type": "disease", "section": "proteins", "phraselist": [ "ryanodine", "receptor", "ryanodine receptor", "receptor 2", "ryanodine receptor 2", "cardiac", "muscle", "calcium", "release", "channel", "cardiac muscle", "muscle ryanodine", "receptor calcium", "calcium release", "release channel", "cardiac muscle ryanodine", "muscle ryanodine receptor", "ryanodine receptor calcium", "receptor calcium release", "calcium release channel", "cardiac muscle ryanodine receptor", "muscle ryanodine receptor calcium", "ryanodine receptor calcium release", "receptor calcium release channel", "cardiac muscle ryanodine receptor calcium", "muscle ryanodine receptor calcium release", "ryanodine receptor calcium release channel", "ryr", "ryr 2", "ryr2", "type", "type 2", "2 ryanodine", "type 2 ryanodine", "2 ryanodine receptor", "type 2 ryanodine receptor", "cardiac type", "type ryanodine", "cardiac type ryanodine", "type ryanodine receptor", "cardiac type ryanodine receptor", "hryr", "hryr 2", "islet", "islet type", "islet type ryanodine", "islet type ryanodine receptor", "kidney", "kidney type", "kidney type ryanodine", "kidney type ryanodine receptor", "2 cardiac", "receptor 2 cardiac", "ryanodine receptor 2 cardiac" ] }, { "record_id": "MONDO:0020750", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0020750", "0020750", "mim:618193", "618193" ] }, { "record_id": "MONDO:0020750", "record_type": "disease", "section": "disease_name", "phraselist": [ "polycystic", "lipomembranous", "osteodysplasia", "with", "sclerosing", 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a b miltenberger dr", "platelet", "platelet glycoprotein", "glycoprotein 4", "platelet glycoprotein 4", "cd36", "collagen", "thrombospondin", "cd36 antigen", "collagen type", "type i", "i receptor", "thrombospondin receptor", "antigen collagen", "collagen type i", "type i receptor", "receptor thrombospondin", "cd36 antigen collagen", "antigen collagen type", "collagen type i receptor", "i receptor thrombospondin", "receptor thrombospondin receptor", "cd36 antigen collagen type", "antigen collagen type i", "type i receptor thrombospondin", "i receptor thrombospondin receptor", "transcript", "cd36 molecule", "cd36 blood", "molecule cd36", "cd36 blood group", "group transcript", "cd36 molecule cd36", "molecule cd36 blood", "blood group transcript", "cd36 molecule cd36 blood", "molecule cd36 blood group", "cd36 blood group transcript", "molecule thrombospondin", "cd36 molecule thrombospondin", "molecule thrombospondin receptor", "cd36 molecule thrombospondin receptor", "fat", "fatty", "acid", "translocase", "fatty acid", "acid translocase", "fatty acid translocase", "gpiiib", "gpiv", "iiib", "glycoprotein iiib", "leukocyte", "differentiation", "leukocyte differentiation", "differentiation antigen", "antigen cd36", "leukocyte differentiation antigen", "differentiation antigen cd36", "leukocyte differentiation antigen cd36", "iv", "pas iv", "pas 4", "4 protein", "pas 4 protein", "platelet collagen", "collagen receptor", "platelet collagen receptor", "glycoprotein iv", "platelet glycoprotein iv", "cluster", "determinant", "36", "cluster determinant", "determinant 36", "cluster determinant 36", "4 isoform", "glycoprotein 4 isoform", "4 isoform 1", "platelet glycoprotein 4 isoform", "glycoprotein 4 isoform 1", "platelet glycoprotein 4 isoform 1", "scavenger", "class", "scavenger receptor", "receptor class", "class b", "member 3", "scavenger receptor class", "receptor class b", "b member", "scavenger receptor class b", "class b member", "b member 3", "receptor class b member", "class b member 3", "complement", "complement receptor", "receptor type", "type 1", "complement receptor type", "receptor type 1", "complement receptor type 1", "c3", "c3 binding", "c3 binding protein", "c3b/c4b", "c3b/c4b receptor", "cd35", "cd35 antigen", "knops", "knops blood", "knops blood group", "knops blood group antigen", "component", "3b/4b", "complement component", "component 3b/4b", "3b/4b receptor", "1 knops", "complement component 3b/4b", "3b/4b receptor 1", "receptor 1 knops", "1 knops blood", "component 3b/4b receptor", "receptor 1 knops blood", "1 knops blood group", "complement receptor 1", "isoform s", "s precursor", "type 1 isoform", "1 isoform s", "isoform s precursor", "receptor type 1 isoform", "type 1 isoform s", "1 isoform s precursor", "complement receptor type 1 isoform", "receptor type 1 isoform s", "type 1 isoform s precursor", "nitric", "oxide", "synthase", "nitric oxide", "oxide synthase", "nitric oxide synthase", "synthase inducible", "oxide synthase inducible", "nitric oxide synthase inducible", "1.14.13.39", "hep", "nos", "hep nos", "hepatocyte", "hepatocyte nos", "no", "inducible no", "no synthase", "inducible no synthase", "inducible nos", "ii", "nos type", "type ii", "nos type ii", "peptidyl", "cysteine", "nitrosylase", "nos2", "peptidyl cysteine", "cysteine s", "s nitrosylase", "nitrosylase nos2", "peptidyl cysteine s", "cysteine s nitrosylase", "s nitrosylase nos2", "peptidyl cysteine s nitrosylase", "cysteine s nitrosylase nos2", "peptidyl cysteine s nitrosylase nos2", "inos", "synthase 2", "oxide synthase 2", "2 inducible", "nitric oxide synthase 2", "synthase 2 inducible", "oxide synthase 2 inducible", "2a", "hepatocytes", "synthase 2a", "oxide synthase 2a", "2a inducible", "inducible hepatocytes", "nitric oxide synthase 2a", "synthase 2a inducible", "oxide synthase 2a inducible", "2a inducible hepatocytes", "macrophage", "synthase macrophage", "oxide synthase macrophage", "nitric oxide synthase macrophage", "hemoglobin", "subunit", "beta", "hemoglobin subunit", "subunit beta", "hemoglobin subunit beta", "globin", "beta globin", "hb", "monza", "hb monza", "monza protein", "hb monza protein", "chain", "hemoglobin beta", "beta chain", "hemoglobin beta chain", "globin chain", "beta globin chain", "beta subunit", "hemoglobin beta subunit", "tumor", "necrosis", "factor", "tumor necrosis", "necrosis factor", "tumor necrosis factor", "apc1", "apc1 protein", "cachectin", "terminal", "fragment", "n terminal", "terminal fragment", "n terminal fragment", "ntf", "tnf", "derived", "macrophage derived", "tnf macrophage", "tnf macrophage derived", "monocyte", "monocyte derived", "tnf monocyte", "tnf monocyte derived", "tnf alpha", "tnf a", "ligand", "superfamily", "factor ligand", "ligand superfamily", "superfamily member", "member 2", "necrosis factor ligand", "factor ligand superfamily", "ligand superfamily member", "superfamily member 2", "tumor necrosis factor ligand", "necrosis factor ligand superfamily", "factor ligand superfamily member", "ligand superfamily member 2", "tumor necrosis factor ligand superfamily", "necrosis factor ligand superfamily member", "factor ligand superfamily member 2", "1f", "ligand 1f", "factor ligand 1f", "necrosis factor ligand 1f", "tumor necrosis factor ligand 1f", "factor alpha", "necrosis factor alpha", "tumor necrosis factor alpha", "necrotic", "tumor necrotic", "necrotic factor", "tumor necrotic factor", "necrotic factor alpha", "tumor necrotic factor alpha", "glycophorin c", "gpd", "gerbich", "gerbich antigen", "gerbich blood", "gerbich blood group", "gerbich blood group antigen", "glycoconnectin", "glycophorin d", "glycoprotein beta", "2'", "pas 2'", "sialoglycoprotein d", "c isoform", "glycophorin c isoform", "c isoform 3", "glycophorin c isoform 3", "low", "affinity", "immunoglobulin", "gamma", "fc", "region", "low affinity", "affinity immunoglobulin", "immunoglobulin gamma", "gamma fc", "fc region", "region receptor", "receptor ii", "ii b", "low affinity immunoglobulin", "affinity immunoglobulin gamma", "immunoglobulin gamma fc", "gamma fc region", "fc region receptor", "region receptor ii", "receptor ii b", "low affinity immunoglobulin gamma", "affinity immunoglobulin gamma fc", "immunoglobulin gamma fc region", "gamma fc region receptor", "fc region receptor ii", "region receptor ii b", "low affinity immunoglobulin gamma fc", "affinity immunoglobulin gamma fc region", "immunoglobulin gamma fc region receptor", "gamma fc region receptor ii", "fc region receptor ii b", "cdw32", "igg", "iib", "fc fragment", "fragment of", "of igg", "igg receptor", "receptor iib", "fc fragment of", "fragment of igg", "of igg receptor", "igg receptor iib", "fc fragment of igg", "fragment of igg receptor", "of igg receptor iib", "fc fragment of igg receptor", "fragment of igg receptor iib", "cd32", "affinity ii", "igg low", "low affinity ii", "ii receptor", "for cd32", "of igg low", "igg low affinity", "affinity ii receptor", "ii 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