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is", "congenital disorder", "disorder of", "of glycosylation", "type is", "is congenital", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "cdg is congenital", "is congenital disorder", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type is", "cdg is congenital disorder", "is congenital disorder of", "disorder of glycosylation type", "of glycosylation type is", "alg13 cdg" ] }, { "record_id": "GLY_000230_1_4", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9h553", "q9h553 1", "11933", "mondo:0011933", "0011933", "1914731" ] }, { "record_id": "GLY_000230_1_4", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "cdg ii", "congenital disorder", "disorder of", "of glycosylation", "type ii", "ii congenital", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "cdg ii congenital", "ii congenital disorder", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type ii", "cdg ii congenital disorder", "ii congenital disorder of", "disorder of glycosylation type", "of glycosylation type ii", "alg2 cdg" ] }, { "record_id": "GLY_000230_1_5", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q92685", "q92685 1", "10998", "mondo:0010998", "0010998", "1098592" ] }, { "record_id": "GLY_000230_1_5", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "cdg id", "congenital disorder", "disorder of", "of glycosylation", "type id", "id congenital", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "cdg id congenital", "id congenital disorder", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type id", "cdg id congenital disorder", "id congenital disorder of", "disorder of glycosylation type", "of glycosylation type id", "alg3 cdg" ] }, { "record_id": "GLY_000230_1_6", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9y672", "q9y672 1", "11291", "mondo:0011291", "0011291", "2444031" ] }, { "record_id": "GLY_000230_1_6", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "cdg ic", "congenital disorder", "disorder of", "of glycosylation", "type ic", "ic congenital", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "cdg ic congenital", "ic congenital disorder", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type ic", "cdg ic congenital disorder", "ic congenital disorder of", "disorder of glycosylation type", "of glycosylation type ic", "alg6 cdg", "type 1c", "glycosylation type 1c", "of glycosylation type 1c", "congenital disorder of glycosylation type", "disorder of glycosylation type 1c" ] }, { "record_id": "GLY_000230_1_7", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9bvk2", 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glycosylation", "glycosylation type", "cdg il congenital", "il congenital disorder", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type il", "cdg il congenital disorder", "il congenital disorder of", "disorder of glycosylation type", "of glycosylation type il", "alg9 cdg" ] }, { "record_id": "GLY_000230_1_9", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q15904", "q15904 1", "10504", "mondo:0010504", "0010504", "109629" ] }, { "record_id": "GLY_000230_1_9", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "immunodeficiency 47", "imd47immunodeficiency type", "type 47", "primary immunodeficiency", "immunodeficiency disease", "disease caused", "caused by", "by mutation", "mutation in", "in atp6ap1", "atp6ap1 primary", "47 imd47immunodeficiency", "imd47immunodeficiency type 47", "47 primary", "primary immunodeficiency disease", "immunodeficiency disease caused", "disease caused by", 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immunodeficiency", "in atp6ap1 immunodeficiency 47", "47 imd47 atp6ap1", "imd47 atp6ap1 primary immunodeficiency", "atp6ap1 cdg" ] }, { "record_id": "GLY_000230_1_10", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "o75787", "o75787 1", "10319", "mondo:0010319", "0010319", "1917745" ] }, { "record_id": "GLY_000230_1_10", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "mental retardation", "x linked", "hedera type", "linked mental", "retardation with", "with epilepsy", "retardation x", "linked syndromic", "syndromic hedera", "type mrxe", "mrxe mrxsh", "mrxsh x", "x linked mental", "linked mental retardation", "mental retardation with", "retardation with epilepsy", "mental retardation x", "retardation x linked", "x linked syndromic", "syndromic hedera type", "hedera type mrxe", "mrxsh x linked", "x linked mental retardation", "linked mental retardation with", "mental retardation with epilepsy", "mental retardation 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"text", "phraselist": [ "cutis laxa", "autosomal recessive", "type iid", "recessive cutis", "laxa type", "type 2d", "laxa autosomal", "recessive type", "iid arcl2d", "arcl2d autosomal", "autosomal recessive cutis", "recessive cutis laxa", "cutis laxa type", "laxa type iid", "iid cutis", "cutis laxa autosomal", "laxa autosomal recessive", "autosomal recessive type", "recessive type iid", "type iid arcl2d", "arcl2d autosomal recessive", "autosomal recessive cutis laxa", "recessive cutis laxa type", "cutis laxa type iid", "type iid cutis", "iid cutis laxa", "recessive type 2d", "cutis laxa autosomal recessive", "autosomal recessive type iid", "iid arcl2d autosomal", "arcl2d autosomal recessive cutis", "autosomal recessive cutis laxa type", "recessive cutis laxa type iid", "laxa type iid cutis", "type iid cutis laxa", "autosomal recessive type 2d", "atp6v1a cdg", "laxa type 2d", "cutis laxa type 2d", "recessive cutis laxa type 2d" ] }, { "record_id": "GLY_000230_1_12", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "p36543", "p36543 1", "27462", "mondo:0027462", "0027462", "894326" ] }, { "record_id": "GLY_000230_1_12", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "autosomal recessive", "recessive cutis", "cutis laxa", "laxa type", "type iic", "type 2c", "autosomal recessive cutis", "recessive cutis laxa", "cutis laxa type", "laxa type iic", "iic arcl2c", "arcl2c cutis", "laxa autosomal", "recessive type", "2c cutis", "autosomal recessive cutis laxa", "recessive cutis laxa type", "cutis laxa type iic", "type iic arcl2c", "arcl2c cutis laxa", "cutis laxa autosomal", "laxa autosomal recessive", "autosomal recessive type", "recessive type 2c", "type 2c cutis", "2c cutis laxa", "recessive type iic", "autosomal recessive cutis laxa type", "recessive cutis laxa type iic", "laxa type iic arcl2c", "iic arcl2c cutis", "cutis laxa autosomal recessive", "autosomal recessive type 2c", "type 2c cutis laxa", "autosomal recessive type iic", "atp6v1e1 cdg", "laxa type 2c", "cutis laxa type 2c", "recessive cutis laxa type 2c" ] }, { "record_id": "GLY_000230_1_13", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9y487", "q9y487 1", "18163", "mondo:0018163", "0018163", "104855" ] }, { "record_id": "GLY_000230_1_13", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "v atpase", "atpase a2", "a2 subunit", "subunit defect", "debre type", "type cutis", "cutis laxa", "autosomal recessive", "type iia", "atp6voa2 defect", "laxa type", "type ii", "v atpase a2", "atpase a2 subunit", "a2 subunit defect", "defect debre", "debre type cutis", "type cutis laxa", "laxa cutis", "laxa autosomal", "recessive type", "iia arcl2a", "defect cutis", "cutis laxa type", "laxa type ii", "v atpase a2 subunit", "atpase a2 subunit defect", "subunit defect debre", "defect debre type", "debre type cutis laxa", "cutis laxa cutis", "laxa cutis 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"record_id": "GLY_000230_1_14", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "congenital muscular", "muscular dystrophy", "mddga11 muscular", "dystrophy dystroglycanopathy", "congenital with", "with brain", "brain and", "and eye", "eye anomalies", "type a", "b3galnt2 muscular", "a caused", "caused by", "by mutation", "mutation in", "in b3galnt2", "congenital muscular dystrophy", "dystrophy mddga11", "mddga11 muscular dystrophy", "muscular dystrophy dystroglycanopathy", "dystroglycanopathy congenital", "congenital with brain", "with brain and", "brain and eye", "and eye anomalies", "a 11", "11 b3galnt2", "b3galnt2 muscular dystrophy", "dystroglycanopathy type", "a muscular", "type a caused", "a caused by", "caused by mutation", "by mutation in", "mutation in b3galnt2", "muscular dystrophy mddga11", "dystrophy mddga11 muscular", "mddga11 muscular dystrophy dystroglycanopathy", "dystrophy dystroglycanopathy congenital", "dystroglycanopathy congenital 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caused", "type a caused by mutation", "a caused by mutation in", "caused by mutation in b3galnt2", "b3galnt2 cdg" ] }, { "record_id": "GLY_000230_1_15", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q6y288", "q6y288 1", "9856", "mondo:0009856", "0009856", "2685903" ] }, { "record_id": "GLY_000230_1_15", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "peters plus", "plus syndrome", "krause kivlin", "kivlin syndrome", "peters anomaly", "anomaly with", "with short", "short limb", "limb dwarfism", "peters plus syndrome", "syndrome krause", "krause kivlin syndrome", "syndrome peters", "peters anomaly with", "anomaly with short", "with short limb", "short limb dwarfism", "plus syndrome krause", "syndrome krause kivlin", "kivlin syndrome peters", "syndrome peters anomaly", "peters anomaly with short", "anomaly with short limb", "with short limb dwarfism", "peters plus syndrome krause", "plus syndrome krause kivlin", "syndrome krause kivlin syndrome", "krause kivlin syndrome peters", "kivlin syndrome peters anomaly", "syndrome peters anomaly with", "peters anomaly with short limb", "anomaly with short limb dwarfism", "b3galtl cdg", "alg13 cdg" ] }, { "record_id": "GLY_000230_1_16", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "o94766", "o94766 1", "9511", "mondo:0009511", "0009511", "1919977" ] }, { "record_id": "GLY_000230_1_16", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "multiple joint", "joint dislocations", "dislocations short", "short stature", "stature craniofacial", "craniofacial dysmorphism", "dysmorphism congenital", "congenital heart", "heart defects", "defects syndrome", "multiple joint dislocations", "joint dislocations short", "dislocations short stature", "short stature craniofacial", "stature craniofacial dysmorphism", "craniofacial dysmorphism congenital", "dysmorphism congenital heart", "congenital heart defects", "heart defects syndrome", "multiple joint dislocations short", "joint dislocations short stature", "dislocations short stature craniofacial", "short stature craniofacial dysmorphism", "stature craniofacial dysmorphism congenital", "craniofacial dysmorphism congenital heart", "dysmorphism congenital heart defects", "congenital heart defects syndrome", "multiple joint dislocations short stature", "joint dislocations short stature craniofacial", "dislocations short stature craniofacial dysmorphism", "short stature craniofacial dysmorphism congenital", "stature craniofacial dysmorphism congenital heart", "craniofacial dysmorphism congenital heart defects", "dysmorphism congenital heart defects syndrome", "b3gat3 cdg", "larsen like", "like syndrome", "b3gat3 type", "larsen like syndrome", "syndrome b3gat3", "like syndrome b3gat3", "syndrome b3gat3 type", "larsen like syndrome b3gat3", "like syndrome b3gat3 type" ] }, { "record_id": "GLY_000230_1_17", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q6y288", "q6y288 1", "9856", "mondo:0009856", "0009856", "2685903" ] }, { "record_id": "GLY_000230_1_17", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "peters anomaly", "anomaly short", "short limb", "limb dwarfism", "dwarfism syndrome", "krause van", "van schooneveld", "schooneveld kivlin", "kivlin syndrome", "peters plus", "plus syndrome", "krause kivlin", "anomaly with", "with short", "peters anomaly short", "anomaly short limb", "short limb dwarfism", "limb dwarfism syndrome", "syndrome krause", "krause van schooneveld", "van schooneveld kivlin", "schooneveld kivlin syndrome", "syndrome peters", "peters plus syndrome", "krause kivlin syndrome", "peters anomaly with", "anomaly with short", "with short limb", "peters anomaly short limb", "anomaly short limb dwarfism", "short limb dwarfism syndrome", "dwarfism syndrome krause", "syndrome krause van", "krause van schooneveld 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"q00973 1", "12213", "mondo:0012213", "0012213", "1342057" ] }, { "record_id": "GLY_000230_1_18", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "autosomal recessive", "recessive spastic", "spastic paraplegia", "paraplegia type", "type 26", "hereditary spastic", "gm2 synthase", "synthase deficiency", "paraplegia 26", "autosomal recessive spastic", "recessive spastic paraplegia", "spastic paraplegia type", "paraplegia type 26", "26 hereditary", "hereditary spastic paraplegia", "26 gm2", "gm2 synthase deficiency", "deficiency spg26", "spg26 autosomal", "spastic paraplegia 26", "autosomal recessive spastic paraplegia", "recessive spastic paraplegia type", "spastic paraplegia type 26", "type 26 hereditary", "26 hereditary spastic", "hereditary spastic paraplegia type", "type 26 gm2", "26 gm2 synthase", "synthase deficiency spg26", "spg26 autosomal recessive", "recessive spastic paraplegia 26", "autosomal recessive spastic paraplegia type", "recessive spastic 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multiple", "ext1/ext2 cdg" ] }, { "record_id": "GLY_000230_1_39", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q93063", "q93063 1", "5508", "mondo:0005508", "0005508", "108050" ] }, { "record_id": "GLY_000230_1_39", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "hereditary multiple", "multiple osteochondromas", "multiple exostoses", "multiple cartilaginous", "cartilaginous exostoses", "type 2", "type 1", "hereditary multiple osteochondromas", "osteochondromas hmo", "hereditary multiple exostoses", "exostoses hme", "multiple cartilaginous exostoses", "exostoses exostoses", "exostoses multiple", "multiple type", "2 exostoses", "multiple osteochondromas hmo", "hmo hereditary", "multiple exostoses hme", "hme multiple", "cartilaginous exostoses exostoses", "multiple type 2", "type 2 exostoses", "multiple type 1", "hereditary multiple osteochondromas hmo", "hmo hereditary multiple", "hereditary multiple exostoses 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kidney disease caused by", "kidney disease caused by mutation", "disease caused by mutation in", "caused by mutation in ganab", "mutation in ganab pkd3", "ganab cdg" ] }, { "record_id": "GLY_000230_1_43", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q96ij6", "q96ij6 1", "14219", "mondo:0014219", "0014219", "1916330" ] }, { "record_id": "GLY_000230_1_43", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "gmppa cdg", "and mental", "mental retardation", "retardation syndrome", "cdg alacrima", "alacrima achalasia", "achalasia and", "and mental retardation", "mental retardation syndrome", "syndrome aamr", "aamr aamr", "gmppa cdg alacrima", "achalasia and mental", "and mental retardation syndrome", "retardation syndrome aamr", "cdg alacrima achalasia", "alacrima achalasia and", "achalasia and mental retardation", "mental retardation syndrome aamr", "syndrome aamr aamr" ] }, { "record_id": "GLY_000230_1_44", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "a4d126", "a4d126 1", "13835", "mondo:0013835", "0013835", "1923097" ] }, { "record_id": "GLY_000230_1_44", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "ispd muscular", "muscular dystrophy", "dystrophy dystroglycanopathy", "type a", "congenital with", "with brain", "brain and", "and eye", "eye anomalies", "a caused", "caused by", "by mutation", "mutation in", "in ispd", "ispd muscular dystrophy", "muscular dystrophy dystroglycanopathy", "dystroglycanopathy type", "a muscular", "dystroglycanopathy congenital", "congenital with brain", "with brain and", "brain and eye", "and eye anomalies", "a 7", "7 muscular", "type a caused", "a caused by", "caused by mutation", "by mutation in", "mutation in ispd", "ispd muscular dystrophy dystroglycanopathy", "dystrophy dystroglycanopathy type", "dystroglycanopathy type a", "type a muscular", "a muscular dystrophy", "dystrophy 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"phraselist": [ "gly_000230", "o95461", "o95461 1", "12138", "mondo:0012138", "0012138", "1342270" ] }, { "record_id": "GLY_000230_1_45", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "congenital muscular", "muscular dystrophy", "dystrophy type", "type 1d", "dystrophy dystroglycanopathy", "congenital with", "with mental", "mental retardation", "type b", "congenital muscular dystrophy", "muscular dystrophy type", "dystrophy type 1d", "1d cmd1d", "dystrophy congenital", "congenital type", "1d mdc1d", "muscular dystrophy dystroglycanopathy", "dystroglycanopathy congenital", "congenital with mental", "with mental retardation", "b 6", "6 mddgb6", "congenital muscular dystrophy type", "muscular dystrophy type 1d", "type 1d cmd1d", "cmd1d muscular", "muscular dystrophy congenital", "congenital type 1d", "type 1d mdc1d", "mdc1d muscular", "dystrophy dystroglycanopathy congenital", "dystroglycanopathy congenital with", "congenital with mental retardation", 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"congenital disorder of glycosylation", "of glycosylation type", "glycosylation type iia", "type iia cdg", "iia cdg iia", "disorder of glycosylation type", "of glycosylation type iia", "type iia cdg iia", "mgat2 cdg" ] }, { "record_id": "GLY_000230_1_48", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q13724", "q13724 1", "11629", "mondo:0011629", "0011629", "1929872" ] }, { "record_id": "GLY_000230_1_48", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "congenital disorder", "disorder of", "of glycosylation", "type iib", "cdg iib", "mogs cdg", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "iib cdg", "iib mogs", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type iib", "type iib cdg", "iib cdg iib", "cdg iib mogs", "iib mogs cdg", "disorder of glycosylation type", "of glycosylation type iib", "type iib cdg iib", "cdg iib mogs cdg", "gcs1 cdg" ] }, { 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"protein losing enteropathy hepatic", "losing enteropathy hepatic fibrosis", "enteropathy hepatic fibrosis syndrome", "mannosephosphate isomerase deficiency cdg", "isomerase deficiency cdg ib", "cdg ib congenital disorder", "ib congenital disorder of", "disorder of glycosylation type", "of glycosylation type ib", "type ib saguenay lac", "ib saguenay lac saint", "saguenay lac saint jean syndrome", "saint jean syndrome protein", "jean syndrome protein losing", "syndrome protein losing enteropathy", "protein losing enteropathy hepatic fibrosis", "losing enteropathy hepatic fibrosis syndrome", "mpi cdg" ] }, { "record_id": "GLY_000230_1_51", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9nr45", "q9nr45 1", "12495", "mondo:0012495", "0012495", "2149820" ] }, { "record_id": "GLY_000230_1_51", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "nans deficiency", "spondyloepimetaphyseal dysplasia", "dysplasia genevieve", 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"GLY_000230_1_53", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "mental retardation", "autosomal recessive", "recessive 42", "mrt42pgap1 autosomal", "recessive non", "non syndromic", "syndromic intellectual", "intellectual disability", "disability caused", "caused by", "by mutation", "mutation in", "in pgap1", "recessive type", "type 42", "retardation autosomal", "autosomal recessive 42", "42 mrt42pgap1", "mrt42pgap1 autosomal recessive", "autosomal recessive non", "recessive non syndromic", "non syndromic intellectual", "syndromic intellectual disability", "disability autosomal", "intellectual disability caused", "disability caused by", "caused by mutation", "by mutation in", "mutation in pgap1", "pgap1 mental", "autosomal recessive type", "recessive type 42", "mental retardation autosomal", "retardation autosomal recessive", "recessive 42 mrt42pgap1", "42 mrt42pgap1 autosomal", "mrt42pgap1 autosomal recessive non", "autosomal recessive non syndromic", 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mutation", "disability caused by mutation in", "caused by mutation in pgap1", "mutation in pgap1 mental", "in pgap1 mental retardation", "retardation autosomal recessive type", "pgap1 cdg", "disability autosomal recessive 42" ] }, { "record_id": "GLY_000230_1_54", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q96fm1", "q96fm1 1", "14318", "mondo:0014318", "0014318", "2444461" ] }, { "record_id": "GLY_000230_1_54", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "hyperphosphatasia with", "with mental", "mental retardation", "retardation syndrome", "syndrome 4", "hpmrs4hyperphosphatasia intellectual", "intellectual disability", "disability syndrome", "syndrome caused", "caused by", "by mutation", "mutation in", "in pgap3", "pgap3 hyperphosphatasia", "hyperphosphatasia intellectual", "syndrome type", "type 4", "hyperphosphatasia with mental", "with mental retardation", "mental retardation syndrome", "retardation 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syndrome", "disability syndrome hyperphosphatasia", "syndrome hyperphosphatasia with", "mental retardation syndrome type", "retardation syndrome type 4", "type 4 hyperphosphatasia", "4 hyperphosphatasia with", "hyperphosphatasia with mental retardation syndrome", "with mental retardation syndrome 4", "retardation syndrome 4 hpmrs4hyperphosphatasia", "syndrome 4 hpmrs4hyperphosphatasia intellectual", "4 hpmrs4hyperphosphatasia intellectual disability", "hpmrs4hyperphosphatasia intellectual disability syndrome caused", "intellectual disability syndrome caused by", "disability syndrome caused by mutation", "syndrome caused by mutation in", "caused by mutation in pgap3", "mutation in pgap3 pgap3", "in pgap3 pgap3 hyperphosphatasia", "pgap3 pgap3 hyperphosphatasia intellectual", "pgap3 hyperphosphatasia intellectual disability syndrome", "intellectual disability syndrome hyperphosphatasia", "disability syndrome hyperphosphatasia with", "syndrome hyperphosphatasia with mental", "with mental retardation syndrome type", "mental retardation syndrome type 4", "syndrome type 4 hyperphosphatasia", "type 4 hyperphosphatasia with", "4 hyperphosphatasia with mental", "pgap3 cdg", "with intellectual", "hyperphosphatasia with intellectual", "with intellectual disability", "disability syndrome 4", "hyperphosphatasia with intellectual disability", "with intellectual disability syndrome", "intellectual disability syndrome 4", "hyperphosphatasia with intellectual disability syndrome", "with intellectual disability syndrome 4" ] }, { "record_id": "GLY_000230_1_55", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "p36871", "p36871 1", "13968", "mondo:0013968", "0013968", "97565" ] }, { "record_id": "GLY_000230_1_55", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "cdg it", "congenital disorder", "disorder of", "of glycosylation", "type it", "it congenital", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "cdg it congenital", "it congenital disorder", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type it", "cdg it congenital disorder", "it congenital disorder of", "disorder of glycosylation type", "of glycosylation type it", "pgm1 cdg" ] }, { "record_id": "GLY_000230_1_56", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "o95394", "o95394 1", "14353", "mondo:0014353", "0014353", "97566" ] }, { "record_id": "GLY_000230_1_56", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "mmunodeficiency vasculitis", "vasculitis myoclonus", "myoclonus syndrome", "immunodeficiency 23", "phosphoglucomutase 3", "3 deficiency", "immunodeficiency with", "with hyper", "hyper ige", "ige and", "and cognitive", "cognitive impairment", "phosphoglucomutase deficiency", "deficiency type", "type 3", "mmunodeficiency vasculitis myoclonus", "vasculitis myoclonus syndrome", "syndrome immunodeficiency", "23 immunodeficiency", "23 imd23", "imd23 phosphoglucomutase", "phosphoglucomutase 3 deficiency", "deficiency imd23", "imd23 immunodeficiency", "immunodeficiency with hyper", "with hyper ige", "hyper ige and", "ige and cognitive", "and cognitive impairment", "impairment phosphoglucomutase", "phosphoglucomutase deficiency type", "deficiency type 3", "mmunodeficiency vasculitis myoclonus syndrome", "myoclonus syndrome immunodeficiency", "syndrome immunodeficiency 23", "immunodeficiency 23 immunodeficiency", "23 immunodeficiency 23", "immunodeficiency 23 imd23", "imd23 phosphoglucomutase 3", "3 deficiency imd23", "imd23 immunodeficiency with", "immunodeficiency with hyper ige", "with hyper ige and", "hyper ige and cognitive", "ige and cognitive impairment", "cognitive impairment phosphoglucomutase", "impairment phosphoglucomutase deficiency", "phosphoglucomutase deficiency type 3", "vasculitis myoclonus syndrome immunodeficiency", "myoclonus syndrome immunodeficiency 23", "immunodeficiency 23 immunodeficiency 23", "23 imd23 phosphoglucomutase", "imd23 phosphoglucomutase 3 deficiency", "phosphoglucomutase 3 deficiency imd23", "deficiency imd23 immunodeficiency", "imd23 immunodeficiency with hyper", "immunodeficiency with hyper ige and", "with hyper ige and cognitive", "hyper ige and cognitive impairment", "and cognitive impairment phosphoglucomutase", "cognitive impairment phosphoglucomutase deficiency", "impairment phosphoglucomutase deficiency type", "pgm3 cdg" ] }, { "record_id": "GLY_000230_1_57", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q92535", "q92535 1", "40500", "mondo:0040500", "0040500", "1914542" ] }, { "record_id": "GLY_000230_1_57", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "glycosylphosphatidylinositol biosynthesis", "biosynthesis defect", "defect 16", "mental retardation", "autosomal recessive", "recessive 62", "gpibd16 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"mrt53early onset", "onset epilepsy", "epilepsy intellectual", "intellectual disability", "disability brain", "brain anomalies", "anomalies syndrome", "glycosylphosphatidylinositol biosynthesis", "biosynthesis defect", "defect 13", "pigg cdg", "congenital disorder", "disorder of", "of glycosylation", "glycosylation due", "due to", "to pigg", "pigg deficiency", "recessive type", "type 53", "retardation autosomal", "autosomal recessive 53", "53 mrt53early", "mrt53early onset epilepsy", "onset epilepsy intellectual", "epilepsy intellectual disability", "intellectual disability brain", "disability brain anomalies", "brain anomalies syndrome", "syndrome glycosylphosphatidylinositol", "glycosylphosphatidylinositol biosynthesis defect", "biosynthesis defect 13", "13 gpibd13", "gpibd13 pigg", "cdg congenital", "congenital disorder of", "disorder of glycosylation", "of glycosylation due", "glycosylation due to", "due to pigg", "to pigg deficiency", "deficiency mental", "autosomal recessive 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recessive", "intellectual disability autosomal recessive", "disability autosomal recessive 53" ] }, { "record_id": "GLY_000230_1_59", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q14442", "q14442 1", "60724", "mondo:0060724", "0060724", "99463" ] }, { "record_id": "GLY_000230_1_59", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "glycosylphosphatidylinositol biosynthesis", "biosynthesis defect", "defect 17", "glycosylphosphatidylinositol biosynthesis defect", "biosynthesis defect 17", "17 gpibd17", "gpibd17 gpibd17", "glycosylphosphatidylinositol biosynthesis defect 17", "defect 17 gpibd17", "biosynthesis defect 17 gpibd17", "17 gpibd17 gpibd17", "pigh cdg" ] }, { "record_id": "GLY_000230_1_60", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9y2b2", "q9y2b2 1", "10221", "mondo:0010221", "0010221", "2681271" ] }, { "record_id": "GLY_000230_1_60", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "chime syndrome", "zunich kaye", "kaye syndrome", "pigl cdg", "congenital disorder", "disorder of", "of glycosylation", "glycosylation due", "due to", "to pigl", "pigl deficiency", "neuroectodermal dysplasia", "chime type", "coloboma congenital", "congenital heart", "heart disease", "disease ichthyosiform", "ichthyosiform dermatosis", "dermatosis intellectual", "intellectual disability", "disability ear", "ear anomalies", "anomalies syndrome", "neuroectodermal syndrome", "zunich type", "syndrome zunich", "zunich kaye syndrome", "syndrome pigl", "cdg congenital", "congenital disorder of", "disorder of glycosylation", "of glycosylation due", "glycosylation due to", "due to pigl", "to pigl deficiency", "deficiency neuroectodermal", "dysplasia chime", "type coloboma", "coloboma congenital heart", "congenital heart disease", "heart disease ichthyosiform", "disease ichthyosiform dermatosis", "ichthyosiform dermatosis 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syndrome neuroectodermal", "syndrome neuroectodermal syndrome", "neuroectodermal syndrome zunich", "syndrome zunich type", "chime syndrome zunich kaye", "syndrome zunich kaye syndrome", "zunich kaye syndrome pigl", "kaye syndrome pigl cdg", "pigl cdg congenital disorder", "cdg congenital disorder of", "congenital disorder of glycosylation due", "disorder of glycosylation due to", "of glycosylation due to pigl", "glycosylation due to pigl deficiency", "to pigl deficiency neuroectodermal", "pigl deficiency neuroectodermal dysplasia", "neuroectodermal dysplasia chime type", "chime type coloboma congenital", "type coloboma congenital heart", "coloboma congenital heart disease ichthyosiform", "congenital heart disease ichthyosiform dermatosis", "heart disease ichthyosiform dermatosis intellectual", "disease ichthyosiform dermatosis intellectual disability", "ichthyosiform dermatosis intellectual disability ear", "dermatosis intellectual disability ear anomalies", "intellectual disability ear anomalies syndrome", "ear anomalies syndrome neuroectodermal", "anomalies syndrome neuroectodermal syndrome", "neuroectodermal syndrome zunich type" ] }, { "record_id": "GLY_000230_1_61", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9h3s5", "q9h3s5 1", "12465", "mondo:0012465", "0012465", "1914806" ] }, { "record_id": "GLY_000230_1_61", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "autosomal recessive", "recessive gpi", "gpi anchor", "anchor deficiency", "glycosylphosphatidylinositol deficiency", "autosomal recessive gpi", "recessive gpi anchor", "gpi anchor deficiency", "deficiency glycosylphosphatidylinositol", "autosomal recessive gpi anchor", "recessive gpi anchor deficiency", "anchor deficiency glycosylphosphatidylinositol", "deficiency glycosylphosphatidylinositol deficiency", "autosomal recessive gpi anchor deficiency", "gpi anchor deficiency glycosylphosphatidylinositol", "anchor deficiency glycosylphosphatidylinositol deficiency", "pigm cdg", "hypercoagulability syndrome", "syndrome due", "due to", "to glycosylphosphatidylinositol", "hypercoagulability syndrome due", "syndrome due to", "due to glycosylphosphatidylinositol", "to glycosylphosphatidylinositol deficiency", "hypercoagulability syndrome due to", "syndrome due to glycosylphosphatidylinositol", "due to glycosylphosphatidylinositol deficiency", "hypercoagulability syndrome due to glycosylphosphatidylinositol", "syndrome due to glycosylphosphatidylinositol deficiency" ] }, { "record_id": "GLY_000230_1_62", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q8teq8", "q8teq8 1", "13882", "mondo:0013882", "0013882", "1861452" ] }, { "record_id": "GLY_000230_1_62", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "pigo hyperphosphatasia", "hyperphosphatasia intellectual", "intellectual disability", "disability syndrome", "syndrome caused", "caused by", "by mutation", "mutation in", "in pigo", "hyperphosphatasia with", "with mental", "mental retardation", "retardation syndrome", "syndrome 2", "syndrome type", "type 2", "pigo hyperphosphatasia intellectual", "hyperphosphatasia intellectual disability", "intellectual disability syndrome", "syndrome hyperphosphatasia", "disability syndrome caused", "syndrome caused by", "caused by mutation", "by mutation in", "mutation in pigo", "hyperphosphatasia with mental", "with mental retardation", "mental retardation syndrome", "retardation syndrome 2", "2 hyperphosphatasia", "retardation syndrome type", "syndrome type 2", "pigo hyperphosphatasia intellectual disability", "hyperphosphatasia intellectual disability syndrome", "disability syndrome hyperphosphatasia", "syndrome hyperphosphatasia intellectual", "intellectual disability syndrome caused", "disability syndrome caused by", "syndrome caused by mutation", "caused by mutation in", "by mutation in pigo", "in pigo hyperphosphatasia", "pigo hyperphosphatasia with", "hyperphosphatasia with mental retardation", "with mental retardation syndrome", "mental retardation syndrome 2", "syndrome 2 hyperphosphatasia", "2 hyperphosphatasia with", "mental retardation syndrome type", "retardation syndrome type 2", "pigo hyperphosphatasia intellectual disability syndrome", "intellectual disability syndrome hyperphosphatasia", "disability syndrome hyperphosphatasia intellectual", "syndrome hyperphosphatasia intellectual disability", "hyperphosphatasia intellectual disability syndrome caused", "intellectual disability syndrome caused by", "disability syndrome caused by mutation", "syndrome caused by mutation in", "caused by mutation in pigo", "mutation in pigo hyperphosphatasia", "in pigo hyperphosphatasia with", "pigo hyperphosphatasia with mental", "hyperphosphatasia with mental retardation syndrome", "with mental retardation syndrome 2", "retardation syndrome 2 hyperphosphatasia", "syndrome 2 hyperphosphatasia with", "2 hyperphosphatasia with mental", "with mental retardation syndrome type", "mental retardation syndrome type 2", "pigo cdg", "with intellectual", "hyperphosphatasia with intellectual", "with intellectual disability", "disability syndrome 2", "hyperphosphatasia with intellectual disability", "with intellectual disability syndrome", "intellectual disability syndrome 2", "hyperphosphatasia with intellectual disability syndrome", "with intellectual disability syndrome 2" ] }, { "record_id": "GLY_000230_1_63", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "p57054", "p57054 1", "33364", "mondo:0033364", "0033364", "1860433" ] }, { "record_id": "GLY_000230_1_63", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "epileptic encephalopathy", "early infantile", "glycosylphosphatidylinositol biosynthesis", "biosynthesis defect", "defect 14", "infantile epileptic", "encephalopathy 55", "encephalopathy early", "infantile 55", "55 eiee55", "eiee55 glycosylphosphatidylinositol", "glycosylphosphatidylinositol biosynthesis defect", "biosynthesis defect 14", "14 eiee55", "eiee55 infantile", "infantile epileptic encephalopathy", "epileptic encephalopathy 55", "epileptic encephalopathy early", "encephalopathy early infantile", "early infantile 55", "eiee55 glycosylphosphatidylinositol biosynthesis", "glycosylphosphatidylinositol biosynthesis defect 14", "defect 14 eiee55", "eiee55 infantile epileptic", "infantile epileptic encephalopathy 55", "epileptic encephalopathy early infantile", "infantile 55 eiee55", "55 eiee55 glycosylphosphatidylinositol", "eiee55 glycosylphosphatidylinositol biosynthesis defect", "biosynthesis defect 14 eiee55", "14 eiee55 infantile", "eiee55 infantile epileptic encephalopathy", "pigp cdg" ] }, { "record_id": "GLY_000230_1_64", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q969n2", "q969n2 1", "14165", "mondo:0014165", "0014165", "1926178" ] }, { "record_id": "GLY_000230_1_64", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "mcahs type", "type 3", "multiple congenital", "congenital anomalies", "anomalies hypotonia", "hypotonia seizures", "seizures syndrome", "syndrome type", "congenital anomalies/dysmorphic", "anomalies/dysmorphic syndrome", "syndrome intellectual", "intellectual disability", "disability caused", "caused by", "by mutation", "mutation in", "in pigt", "congenital disorder", "disorder of", "of glycosylation", "glycosylation due", "due to", "to pigt", "pigt deficiency", "pigt cdg", "syndrome 3", "pigt multiple", "mcahs type 3", "3 multiple", "multiple congenital anomalies", "congenital anomalies hypotonia", "anomalies hypotonia seizures", "hypotonia seizures syndrome", "seizures syndrome type", "syndrome type 3", "multiple congenital anomalies/dysmorphic", "congenital anomalies/dysmorphic syndrome", "anomalies/dysmorphic syndrome intellectual", "syndrome intellectual disability", "intellectual disability caused", "disability caused by", "caused by mutation", "by mutation in", "mutation in pigt", "pigt congenital", "congenital disorder of", "disorder of glycosylation", "of glycosylation due", "glycosylation due to", "due to pigt", "to pigt deficiency", "deficiency pigt", "cdg multiple", "seizures syndrome 3", "3 pigt", "pigt multiple congenital", "type 3 multiple", "3 multiple congenital", "multiple congenital anomalies hypotonia", "congenital anomalies hypotonia seizures", "anomalies hypotonia seizures syndrome", "hypotonia seizures syndrome type", "seizures syndrome type 3", "multiple congenital anomalies/dysmorphic syndrome", "congenital anomalies/dysmorphic syndrome intellectual", "anomalies/dysmorphic syndrome intellectual disability", "syndrome intellectual disability caused", "intellectual disability caused by", "disability caused by mutation", "caused by mutation in", "by mutation in pigt", "in pigt congenital", "pigt congenital disorder", "congenital disorder of glycosylation", "disorder of glycosylation due", "of glycosylation due to", "glycosylation due to pigt", "due to pigt deficiency", "pigt deficiency pigt", "deficiency pigt cdg", "pigt cdg multiple", "cdg multiple congenital", "hypotonia seizures syndrome 3", "syndrome 3 pigt", "3 pigt multiple", "pigt multiple congenital anomalies/dysmorphic", "mcahs type 3 multiple", "type 3 multiple congenital", "3 multiple congenital anomalies", "multiple congenital anomalies hypotonia seizures", "congenital anomalies hypotonia seizures syndrome", "anomalies hypotonia seizures syndrome type", "hypotonia seizures syndrome type 3", "syndrome type 3 multiple", "3 multiple congenital anomalies/dysmorphic", "multiple congenital anomalies/dysmorphic syndrome intellectual", "congenital anomalies/dysmorphic syndrome intellectual disability", "anomalies/dysmorphic syndrome intellectual disability caused", "syndrome intellectual disability caused by", "intellectual disability caused by mutation", "disability caused by mutation in", "caused by mutation in pigt", "mutation in pigt congenital", "in pigt congenital disorder", "pigt congenital disorder of", "congenital disorder of glycosylation due", "disorder of glycosylation due to", "of glycosylation due to pigt", "glycosylation due to pigt deficiency", "to pigt deficiency pigt", "pigt deficiency pigt cdg", "pigt cdg multiple congenital", "cdg multiple congenital anomalies", "anomalies hypotonia seizures syndrome 3", "seizures syndrome 3 pigt", "syndrome 3 pigt multiple", "3 pigt multiple congenital", "pigt multiple congenital anomalies/dysmorphic syndrome" ] }, { "record_id": "GLY_000230_1_65", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q969n2", "q969n2 1", "14166", "mondo:0014166", "0014166", "1926178" ] }, { "record_id": "GLY_000230_1_65", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "paroxysmal nocturnal", "nocturnal hemoglobinuria", "hemoglobinuria caused", "caused by", "by mutation", "mutation in", "in pigt", "hemoglobinuria 2", "pigt paroxysmal", "hemoglobinuria type", "type 2", "paroxysmal nocturnal hemoglobinuria", "nocturnal hemoglobinuria caused", "hemoglobinuria caused by", "caused by mutation", "by mutation in", "mutation in pigt", "nocturnal hemoglobinuria 2", "2 pigt", "pigt paroxysmal nocturnal", "hemoglobinuria paroxysmal", "nocturnal hemoglobinuria type", "hemoglobinuria type 2", "paroxysmal nocturnal hemoglobinuria caused", "nocturnal hemoglobinuria caused by", "hemoglobinuria caused by mutation", "caused by mutation in", "by mutation in pigt", "in pigt paroxysmal", "paroxysmal nocturnal hemoglobinuria 2", "hemoglobinuria 2 pigt", "2 pigt paroxysmal", "pigt paroxysmal nocturnal hemoglobinuria", "nocturnal hemoglobinuria paroxysmal", "hemoglobinuria paroxysmal nocturnal", "paroxysmal nocturnal hemoglobinuria type", "nocturnal hemoglobinuria type 2", "paroxysmal nocturnal hemoglobinuria caused by", "nocturnal hemoglobinuria caused by mutation", "hemoglobinuria caused by mutation in", "caused by mutation in pigt", "mutation in pigt paroxysmal", "in pigt paroxysmal nocturnal", "nocturnal hemoglobinuria 2 pigt", "hemoglobinuria 2 pigt paroxysmal", "2 pigt paroxysmal nocturnal", "paroxysmal nocturnal hemoglobinuria paroxysmal", "nocturnal hemoglobinuria paroxysmal nocturnal", "hemoglobinuria paroxysmal nocturnal hemoglobinuria", "paroxysmal nocturnal hemoglobinuria type 2", "pigt cdg" ] }, { "record_id": "GLY_000230_1_66", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q7z7b1", "q7z7b1 1", "14457", "mondo:0014457", "0014457", "1917575" ] }, { "record_id": "GLY_000230_1_66", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "hyperphosphatasia with", "with mental", "mental retardation", "retardation syndrome", "syndrome type", "type 5", "syndrome 5", "pigw hyperphosphatasia", "hyperphosphatasia intellectual", "intellectual disability", "disability syndrome", "syndrome caused", "caused by", "by mutation", "mutation in", "in pigwglycosylphosphatidylinositol", "pigwglycosylphosphatidylinositol biosynthesis", "biosynthesis defect", "defect 11", "hyperphosphatasia with mental", "with mental retardation", "mental retardation syndrome", "retardation syndrome type", "syndrome type 5", "5 hyperphosphatasia", "retardation syndrome 5", "5 pigw", "pigw hyperphosphatasia intellectual", "hyperphosphatasia intellectual disability", "intellectual disability syndrome", "syndrome hyperphosphatasia", "disability syndrome caused", "syndrome caused by", "caused by mutation", "by mutation in", "mutation in pigwglycosylphosphatidylinositol", "in pigwglycosylphosphatidylinositol biosynthesis", "pigwglycosylphosphatidylinositol biosynthesis defect", "biosynthesis defect 11", "11 gpibd11", "hyperphosphatasia with mental retardation", "with mental retardation syndrome", "mental retardation syndrome type", "retardation syndrome type 5", "type 5 hyperphosphatasia", "5 hyperphosphatasia with", "mental retardation syndrome 5", "syndrome 5 pigw", "5 pigw hyperphosphatasia", "pigw hyperphosphatasia intellectual disability", "hyperphosphatasia intellectual disability syndrome", "disability syndrome hyperphosphatasia", "syndrome hyperphosphatasia intellectual", "intellectual disability syndrome caused", "disability syndrome caused by", "syndrome caused by mutation", "caused by mutation in", "by mutation in pigwglycosylphosphatidylinositol", "mutation in pigwglycosylphosphatidylinositol biosynthesis", "in pigwglycosylphosphatidylinositol biosynthesis defect", "pigwglycosylphosphatidylinositol biosynthesis defect 11", "defect 11 gpibd11", "hyperphosphatasia with mental retardation syndrome", "with mental retardation syndrome type", "mental retardation syndrome type 5", "syndrome type 5 hyperphosphatasia", "type 5 hyperphosphatasia with", "5 hyperphosphatasia with mental", "with mental retardation syndrome 5", "retardation syndrome 5 pigw", "syndrome 5 pigw hyperphosphatasia", "5 pigw hyperphosphatasia intellectual", "pigw hyperphosphatasia intellectual disability syndrome", "intellectual disability syndrome hyperphosphatasia", "disability syndrome hyperphosphatasia intellectual", "syndrome hyperphosphatasia intellectual disability", "hyperphosphatasia intellectual disability syndrome caused", "intellectual disability syndrome caused by", "disability syndrome caused by mutation", "syndrome caused by mutation in", "caused by mutation in pigwglycosylphosphatidylinositol", "by mutation in pigwglycosylphosphatidylinositol biosynthesis", "mutation in pigwglycosylphosphatidylinositol biosynthesis defect", "in pigwglycosylphosphatidylinositol biosynthesis defect 11", "biosynthesis defect 11 gpibd11", "pigw cdg", "with intellectual", "hyperphosphatasia with intellectual", "with intellectual disability", "disability syndrome 5", "hyperphosphatasia with intellectual disability", "with intellectual disability syndrome", "intellectual disability syndrome 5", "hyperphosphatasia with intellectual disability syndrome", "with intellectual disability syndrome 5" ] }, { "record_id": "GLY_000230_1_67", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q3muy2", "q3muy2 1", "14780", "mondo:0014780", "0014780", "1913518" ] }, { "record_id": "GLY_000230_1_67", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "hyperphosphatasia with", "with mental", "mental retardation", "retardation syndrome", "syndrome type", "type 6", "hyperphosphatasia intellectual", "intellectual disability", "disability syndrome", "syndrome caused", "caused by", "by mutation", "mutation in", "in pigy", "pigy hyperphosphatasia", "syndrome 6", "hyperphosphatasia with mental", "with mental retardation", "mental retardation syndrome", "retardation syndrome type", "syndrome type 6", "6 hpmrs6", "hpmrs6 hyperphosphatasia", "hyperphosphatasia 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"mental retardation syndrome type 6", "syndrome type 6 hpmrs6", "6 hpmrs6 hyperphosphatasia", "hpmrs6 hyperphosphatasia intellectual disability", "hyperphosphatasia intellectual disability syndrome caused", "intellectual disability syndrome caused by", "disability syndrome caused by mutation", "syndrome caused by mutation in", "caused by mutation in pigy", "mutation in pigy pigy", "in pigy pigy hyperphosphatasia", "pigy pigy hyperphosphatasia intellectual", "pigy hyperphosphatasia intellectual disability syndrome", "intellectual disability syndrome hyperphosphatasia", "disability syndrome hyperphosphatasia with", "syndrome hyperphosphatasia with mental", "with mental retardation syndrome 6", "pigy cdg", "with intellectual", "hyperphosphatasia with intellectual", "with intellectual disability", "disability syndrome 6", "hyperphosphatasia with intellectual disability", "with intellectual disability syndrome", "intellectual disability syndrome 6", "syndrome 6 hpmrs6", "hyperphosphatasia 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"human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "poglut1 dowling", "dowling degos", "degos disease", "disease type", "type 4", "disease caused", "caused by", "by mutation", "mutation in", "in poglut1", "disease 4", "poglut1 dowling degos", "dowling degos disease", "disease dowling", "degos disease type", "disease type 4", "4 dowling", "degos disease caused", "disease caused by", "caused by mutation", "by mutation in", "mutation in poglut1", "degos disease 4", "poglut1 dowling degos disease", "degos disease dowling", "disease dowling degos", "dowling degos disease type", "degos disease type 4", "type 4 dowling", "4 dowling degos", "dowling degos disease caused", "degos disease caused by", "disease caused by mutation", "caused by mutation in", "by mutation in poglut1", "in poglut1 dowling", "dowling degos disease 4", "dowling degos disease dowling", "degos disease dowling degos", "disease dowling degos disease", "dowling degos disease type 4", "disease type 4 dowling", "type 4 dowling degos", "4 dowling degos disease", "dowling degos disease caused by", "degos disease caused by mutation", "disease caused by mutation in", "caused by mutation in poglut1", "mutation in poglut1 dowling", "in poglut1 dowling degos", "poglut1 cdg" ] }, { "record_id": "GLY_000230_1_71", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q8wza1", "q8wza1 1", "14023", "mondo:0014023", "0014023", "1915523" ] }, { "record_id": "GLY_000230_1_71", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "muscle eye", "eye brain", "brain disease", "muscular dystrophy", "dystrophy dystroglycanopathy", "congenital with", "with brain", "brain and", "and eye", "eye anomalies", "type a", "muscle eye brain", "eye brain disease", "disease meb", "muscular dystrophy dystroglycanopathy", "dystroglycanopathy congenital", "congenital with brain", "with brain and", "brain and eye", "and eye anomalies", "a 3", "3 mddga3", "muscle eye 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"muscular dystrophy with", "dystrophy with intellectual", "with intellectual disability", "intellectual disability and", "disability and severe", "and severe epilepsy", "congenital muscular dystrophy with", "muscular dystrophy with intellectual", "dystrophy with intellectual disability", "with intellectual disability and", "intellectual disability and severe", "disability and severe epilepsy", "congenital muscular dystrophy with intellectual", "muscular dystrophy with intellectual disability", "dystrophy with intellectual disability and", "with intellectual disability and severe", "intellectual disability and severe epilepsy" ] }, { "record_id": "GLY_000230_1_72", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q8nat1", "q8nat1 1", "13904", "mondo:0013904", "0013904", "2143424" ] }, { "record_id": "GLY_000230_1_72", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "muscular dystrophy", "dystrophy 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girdle", "autosomal recessive", "recessive 24", "lgmdr24muscular dystrophy", "dystrophy dystroglycanopathy", "pomgnt2 related", "related muscular", "dystrophy limb", "girdle autosomal", "autosomal recessive 24", "24 lgmdr24muscular", "lgmdr24muscular dystrophy dystroglycanopathy", "dystroglycanopathy limb", "girdle pomgnt2", "pomgnt2 related muscular", "related muscular dystrophy", "muscular dystrophy limb", "dystrophy limb girdle", "limb girdle autosomal", "girdle autosomal recessive", "recessive 24 lgmdr24muscular", "24 lgmdr24muscular dystrophy", "dystrophy dystroglycanopathy limb", "dystroglycanopathy limb girdle", "limb girdle pomgnt2", "girdle pomgnt2 related", "pomgnt2 related muscular dystrophy", "muscular dystrophy limb girdle", "limb girdle autosomal recessive", "girdle autosomal recessive 24", "autosomal recessive 24 lgmdr24muscular", "recessive 24 lgmdr24muscular dystrophy", "24 lgmdr24muscular dystrophy dystroglycanopathy", "lgmdr24muscular dystrophy dystroglycanopathy 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congenital", "dystroglycanopathy congenital with", "congenital with brain and", "with brain and eye", "brain and eye anomalies", "anomalies type", "type a 12", "12 muscular dystrophy", "dystrophy dystroglycanopathy type", "dystroglycanopathy type a", "type a caused by", "a caused by mutation", "caused by mutation in", "by mutation in pomk", "in pomk pomk", "pomk pomk muscular", "pomk muscular dystrophy dystroglycanopathy", "muscular dystrophy dystroglycanopathy congenital", "dystrophy dystroglycanopathy congenital with", "dystroglycanopathy congenital with brain", "congenital with brain and eye", "with brain and eye anomalies", "eye anomalies type", "anomalies type a", "a 12 muscular", "12 muscular dystrophy dystroglycanopathy", "muscular dystrophy dystroglycanopathy type", "dystrophy dystroglycanopathy type a", "dystroglycanopathy type a caused", "type a caused by mutation", "a caused by mutation in", "caused by mutation in pomk", "mutation in pomk pomk", "in pomk pomk muscular", "pomk pomk muscular dystrophy", "pomk cdg" ] }, { "record_id": "GLY_000230_1_76", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9y6a1", "q9y6a1 1", "14023", "mondo:0014023", "0014023", "2138994" ] }, { "record_id": "GLY_000230_1_76", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "walker warburg", "warburg syndrome", "muscular dystrophy", "dystrophy dystroglycanopathy", "congenital with", "with brain", "brain and", "and eye", "eye anomalies", "type a", "walker warburg syndrome", "syndrome wws", "muscular dystrophy dystroglycanopathy", "dystroglycanopathy congenital", "congenital with brain", "with brain and", "brain and eye", "and eye anomalies", "a 1", "1 mddga1", "a 2", "2 mddga2", "warburg syndrome wws", "wws muscular", "dystrophy dystroglycanopathy congenital", "dystroglycanopathy congenital with", "congenital with brain and", "with brain and eye", "brain and eye anomalies", "anomalies type", "type a 1", "mddga1 muscular", "type a 2", "walker warburg syndrome wws", "wws muscular dystrophy", "muscular dystrophy dystroglycanopathy congenital", "dystrophy dystroglycanopathy congenital with", "dystroglycanopathy congenital with brain", "congenital with brain and eye", "with brain and eye anomalies", "eye anomalies type", "anomalies type a", "a 1 mddga1", "mddga1 muscular dystrophy", "a 2 mddga2", "pomt1/pomt2 cdg", "cong. muscular", "dystrophy spectrum", "cdg cong.", "cong. muscular dystrophy", "muscular dystrophy spectrum", "pomt1/pomt2 cdg cong.", "cdg cong. muscular", "cong. muscular dystrophy spectrum", "pomt1/pomt2 cdg cong. muscular", "cdg cong. muscular dystrophy", "congenital muscular", "dystrophy with", "with intellectual", "intellectual disability", "disability and", "and severe", "severe epilepsy", "congenital muscular dystrophy", "muscular dystrophy with", "dystrophy with intellectual", "with intellectual disability", "intellectual disability and", "disability and severe", "and severe epilepsy", "congenital muscular dystrophy with", "muscular dystrophy with intellectual", "dystrophy with intellectual disability", "with intellectual disability and", "intellectual disability and severe", "disability and severe epilepsy", "congenital muscular dystrophy with intellectual", "muscular dystrophy with intellectual disability", "dystrophy with intellectual disability and", "with intellectual disability and severe", "intellectual disability and severe epilepsy" ] }, { "record_id": "GLY_000230_1_77", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9uky4", "q9uky4 1", "14023", "mondo:0014023", "0014023", "2444430" ] }, { "record_id": "GLY_000230_1_77", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "walker warburg", "warburg syndrome", "muscular dystrophy", "dystrophy dystroglycanopathy", "congenital with", "with brain", "brain and", "and eye", "eye anomalies", "type a", "walker warburg syndrome", 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muscular", "cong. muscular dystrophy spectrum", "pomt1/pomt2 cdg cong. muscular", "cdg cong. muscular dystrophy", "congenital muscular", "dystrophy with", "with intellectual", "intellectual disability", "disability and", "and severe", "severe epilepsy", "congenital muscular dystrophy", "muscular dystrophy with", "dystrophy with intellectual", "with intellectual disability", "intellectual disability and", "disability and severe", "and severe epilepsy", "congenital muscular dystrophy with", "muscular dystrophy with intellectual", "dystrophy with intellectual disability", "with intellectual disability and", "intellectual disability and severe", "disability and severe epilepsy", "congenital muscular dystrophy with intellectual", "muscular dystrophy with intellectual disability", "dystrophy with intellectual disability and", "with intellectual disability and severe", "intellectual disability and severe epilepsy" ] }, { "record_id": "GLY_000230_1_78", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "p14314", "p14314 1", "8265", "mondo:0008265", "0008265", "107877" ] }, { "record_id": "GLY_000230_1_78", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "isolated congenital", "congenital polycystic", "polycystic liver", "liver disease", "autosomal dominant", "dominant polycystic", "nonsyndromic polycystic", "nonsyndromic congenital", "adpcld isolated", "isolated congenital polycystic", "congenital polycystic liver", "polycystic liver disease", "disease autosomal", "autosomal dominant polycystic", "dominant polycystic liver", "disease nonsyndromic", "nonsyndromic polycystic liver", "disease disease", "nonsyndromic congenital polycystic", "disease pcld", "adpcld isolated congenital", "isolated congenital polycystic liver", "congenital polycystic liver disease", "liver disease autosomal", "disease autosomal dominant", "autosomal dominant polycystic liver", "dominant polycystic liver disease", "liver disease 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"mondo:0014270", "0014270", "105124" ] }, { "record_id": "GLY_000230_1_88", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "cdg syndrome", "syndrome type", "type iw", "congenital disorder", "disorder of", "of glycosylation", "glycosylation type", "type 1w", "cdg iw", "cdg syndrome type", "syndrome type iw", "iw congenital", "congenital disorder of", "disorder of glycosylation", "of glycosylation type", "glycosylation type 1w", "1w cdg", "iw cdg1w", "cdg1w congenital", "glycosylation type iw", "cdg syndrome type iw", "type iw congenital", "iw congenital disorder", "congenital disorder of glycosylation", "disorder of glycosylation type", "of glycosylation type 1w", "type 1w cdg", "1w cdg iw", "cdg iw cdg1w", "cdg1w congenital disorder", "of glycosylation type iw", "syndrome type iw congenital", "type iw congenital disorder", "iw congenital disorder of", "congenital disorder of glycosylation type", "disorder of glycosylation type 1w", "glycosylation type 1w 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"progressive early", "onset with", "with brain atrophy", "brain atrophy and", "atrophy and spasticity", "spasticity pebas", "pebas encephalopathy", "progressive early onset", "early onset with", "onset with brain", "with brain atrophy and", "brain atrophy and spasticity", "and spasticity pebas", "encephalopathy progressive early", "early onset with brain", "onset with brain atrophy", "with brain atrophy and spasticity", "atrophy and spasticity pebas", "spasticity pebas encephalopathy", "pebas encephalopathy progressive", "trappc12 cdg", "onset progressive", "progressive encephalopathy", "encephalopathy hearing", "hearing loss", "loss pons", "pons hypoplasia", "hypoplasia brain", "atrophy syndrome", "early onset progressive", "onset progressive encephalopathy", "progressive encephalopathy hearing", "encephalopathy hearing loss", "hearing loss pons", "loss pons hypoplasia", "pons hypoplasia brain", "hypoplasia brain atrophy", "brain atrophy syndrome", "early onset progressive 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"nedmeba neurodevelopmental", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly epilepsy", "epilepsy and", "and brain atrophy", "atrophy nedmeba", "nedmeba neurodevelopmental disorder", "neurodevelopmental disorder with microcephaly", "with microcephaly epilepsy", "epilepsy and brain", "brain atrophy nedmeba", "nedmeba neurodevelopmental disorder with", "disorder with microcephaly epilepsy", "microcephaly epilepsy and", "epilepsy and brain atrophy", "and brain atrophy nedmeba", "trappc6b cdg" ] }, { "record_id": "GLY_000230_1_95", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q15643", "q15643 1", "8701", "mondo:0008701", "0008701", "1924393" ] }, { "record_id": "GLY_000230_1_95", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "achondrogenesis houston", "houston harris", "harris type", "achondrogenesis houston harris", "houston harris type", "type achondrogenesis", "achondrogenesis 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oligosaccharyltransferase tusc3", "oligosaccharyltransferase tusc3 subunit defect", "mental retardation autosomal recessive", "retardation autosomal recessive 7", "autosomal recessive 7 mrt7", "mrt7 mental retardation", "retardation autosomal recessive 22", "autosomal recessive 22 oligosaccharyltransferase", "recessive 22 oligosaccharyltransferase tusc3", "22 oligosaccharyltransferase tusc3 subunit", "tusc3 cdg", "intellectual disability", "disability autosomal", "intellectual disability autosomal", "disability autosomal recessive", "intellectual disability autosomal recessive", "disability autosomal recessive 7" ] }, { "record_id": "GLY_000230_1_97", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q7z7g8", "q7z7g8 1", "8999", "mondo:0008999", "0008999", "1916380" ] }, { "record_id": "GLY_000230_1_97", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "cohen syndrome", "coh1cutis verticis", "verticis gyrata", "retinitis pigmentosa", "and sensorineural", "sensorineural deafness", "syndrome coh1cutis", "coh1cutis verticis gyrata", "gyrata retinitis", "pigmentosa and", "and sensorineural deafness", "deafness cohen", "cohen syndrome coh1cutis", "syndrome coh1cutis verticis", "verticis gyrata retinitis", "gyrata retinitis pigmentosa", "retinitis pigmentosa and", "pigmentosa and sensorineural", "sensorineural deafness cohen", "deafness cohen syndrome", "cohen syndrome coh1cutis verticis", "syndrome coh1cutis verticis gyrata", "coh1cutis verticis gyrata retinitis", "verticis gyrata retinitis pigmentosa", "retinitis pigmentosa and sensorineural", "pigmentosa and sensorineural deafness", "and sensorineural deafness cohen", "sensorineural deafness cohen syndrome", "vps13b cdg" ] }, { "record_id": "GLY_000230_1_98", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q86y38", "q86y38 1", "18273", "mondo:0018273", "0018273", "2451073" ] }, { "record_id": "GLY_000230_1_98", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "xylt1 cdg", "pseudoxanthoma elasticum", "gronblad strandberg", "strandberg touraine", "touraine syndrome", "hereditary pseudoxanthoma", "inherited or", "or acquired", "strandberg syndrome", "cdg pseudoxanthoma", "elasticum pxe", "pxe xylt1", "xylt1 gronblad", "gronblad strandberg touraine", "strandberg touraine syndrome", "syndrome hereditary", "hereditary pseudoxanthoma elasticum", "elasticum inherited", "inherited or acquired", "gronblad strandberg syndrome", "syndrome pxe", "xylt1 cdg pseudoxanthoma", "cdg pseudoxanthoma elasticum", "pseudoxanthoma elasticum pxe", "xylt1 gronblad strandberg", "gronblad strandberg touraine syndrome", "touraine syndrome hereditary", "syndrome hereditary pseudoxanthoma", "pseudoxanthoma elasticum inherited", "elasticum inherited or", "acquired gronblad", "strandberg syndrome pxe", "xylt1 cdg pseudoxanthoma elasticum", "elasticum pxe xylt1", "pxe xylt1 gronblad", "xylt1 gronblad strandberg touraine", "strandberg touraine syndrome hereditary", "touraine syndrome hereditary pseudoxanthoma", "syndrome hereditary pseudoxanthoma elasticum", "hereditary pseudoxanthoma elasticum inherited", "pseudoxanthoma elasticum inherited or", "elasticum inherited or acquired", "or acquired gronblad", "acquired gronblad strandberg", "gronblad strandberg syndrome pxe" ] }, { "record_id": "GLY_000230_1_99", "filename": "human_protein_disease_cdg", "fieldtype": "id", "phraselist": [ "gly_000230", "q9h1b5", "q9h1b5 1", "11604", "mondo:0011604", "0011604", "2444797" ] }, { "record_id": "GLY_000230_1_99", "filename": "human_protein_disease_cdg", "fieldtype": "text", "phraselist": [ "pseudoxanthoma elasticum", "caused by", "by xylt2", "spondyloocular syndrome", "syndrome spondyloocular", "elasticum pxe", "pxe caused", "caused by xylt2", "xylt2 spondyloocular", "spondyloocular syndrome spondyloocular", "syndrome spondyloocular syndrome", "syndrome sos", "sos spondyloocular", "pseudoxanthoma elasticum pxe", "pxe caused by", "by xylt2 spondyloocular", "xylt2 spondyloocular syndrome", "spondyloocular syndrome spondyloocular syndrome", "spondyloocular syndrome sos", "sos spondyloocular syndrome", "elasticum pxe caused", "pxe caused by xylt2", "caused by xylt2 spondyloocular", "by xylt2 spondyloocular syndrome", "xylt2 spondyloocular syndrome spondyloocular", "syndrome spondyloocular syndrome sos", "syndrome sos spondyloocular", "xylt2 cdg", "spondylo ocular", "ocular syndrome", "spondylo ocular syndrome" ] } ]