[ { "record_id": "doid.0110941", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0110941", "0110941", "mondo:0009818", "0009818", "mim:259730", "259730" ] }, { "record_id": "doid.0110941", "record_type": "disease", "section": "disease_name", "phraselist": [ "autosomal", "recessive", "osteopetrosis", "autosomal recessive", "recessive osteopetrosis", "osteopetrosis 3", "autosomal recessive osteopetrosis", "recessive osteopetrosis 3", "autosomal recessive osteopetrosis 3", "guibaud vainsel", "vainsel syndrome", "guibaud vainsel syndrome", "carbonic anhydrase", "anhydrase ii", "ii deficiency", "carbonic anhydrase ii", "anhydrase ii deficiency", "carbonic anhydrase ii deficiency", "marble brain", "brain disease", "marble brain disease", "osteopetrosis with", "with renal", "renal tubular", "tubular acidosis", "osteopetrosis with renal", "with renal tubular", "renal tubular acidosis", "osteopetrosis with renal tubular", "with renal tubular acidosis", "osteopetrosis with renal tubular acidosis", "3 with", "osteopetrosis 3 with", "3 with renal", "recessive osteopetrosis 3 with", "osteopetrosis 3 with renal", "3 with renal tubular", "autosomal recessive osteopetrosis 3 with", "recessive osteopetrosis 3 with renal", "osteopetrosis 3 with renal tubular", "3 with renal tubular acidosis", "type 3", "osteopetrosis type", "recessive osteopetrosis type", "osteopetrosis type 3", "autosomal recessive osteopetrosis type", "recessive osteopetrosis type 3", "ca2 osteopetrosis", "osteopetrosis disease", "ca2 osteopetrosis disease", "autosomal recessive osteopetrosis type 3", "anhydrase 2", "2 deficiency", "carbonic anhydrase 2", "anhydrase 2 deficiency", "carbonic anhydrase 2 deficiency", "mixed rta", "mixed renal", "mixed renal tubular", "mixed renal tubular acidosis", "caused by", "by mutation", "mutation in", "in ca2", "disease caused", "caused by mutation", "by mutation in", "mutation in ca2", "disease caused by", "caused by mutation in", "by mutation in ca2", "osteopetrosis disease caused", "disease caused by mutation", "caused by mutation in ca2", "recessive 3", "osteopetrosis autosomal", "autosomal recessive 3", "osteopetrosis autosomal recessive", "recessive 3 with", "osteopetrosis autosomal recessive 3", "autosomal recessive 3 with", "recessive 3 with renal", "recessive type", "autosomal recessive type", "recessive type 3", "autosomal recessive type 3", "osteopetrosis autosomal recessive type", "acidosis type", "tubular acidosis type", "acidosis type 3", "renal tubular acidosis type", "tubular acidosis type 3", "renal tubular acidosis type 3" ] }, { "record_id": "doid.0110941", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "doid.0110941", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0110941", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0110941", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0110941", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0110941", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0110941", "record_type": "disease", "section": "proteins", "phraselist": [ "q9v396", "q9v396 1", "q9v396_drome", "np_523561", "cah1", "bg:ds00941.1", "cah", "cg7820", "dmel\\cg7820", "gh7", "bg:ds00941.1 cah", "cah cg7820", "cg7820 dmel\\cg7820", "dmel\\cg7820 gh7", "bg:ds00941.1 cah cg7820", "cah cg7820 dmel\\cg7820", "cg7820 dmel\\cg7820 gh7", "dmel_cg7820", "q92905", "q92905 1", "csn5_human", "np_006828", "glycoprotein", "cops5", "csn5", "jab1", "mov", "34", "sgn5", "mov 34", "csn5 jab1", "jab1 mov", "34 sgn5", "jab1 mov 34", "mov 34 sgn5", "csn5 jab1 mov", "p00918", "p00918 1", "cah2_human", "np_000058", "ca2", "ca", "ii", "cac", "caii", "car2", "hel", "76", "282", "ca ii", "hel 76", "hel s", "s 282", "ii cac", "cac caii", "caii car2", "car2 hel", "76 hel", "hel s 282", "ca ii cac", "car2 hel 76", "hel 76 hel", "76 hel s", "ii cac caii", "cac caii car2", "caii car2 hel", "hel 76 hel s", "76 hel s 282", "q92051", "q92051 1", "cahz_danre", "np_571185", "cahz", "cah z", "cb588", "id:ibd5016", "wu:cegs2190", "wu:fj65c09", "cah cah", "z cb588", "cb588 id:ibd5016", "id:ibd5016 wu:cegs2190", "wu:cegs2190 wu:fj65c09", "cah cah z", "cah z cb588", "z cb588 id:ibd5016", "cb588 id:ibd5016 wu:cegs2190", "id:ibd5016 wu:cegs2190 wu:fj65c09", "p00920", "p00920 1", "cah2_mouse", "np_033931", "car", "ltw", "lvtw", "car 2", "ltw 5", "lvtw 5", "ca2 caii", "caii car", "2 ltw", "5 lvtw", "caii car 2", "car 2 ltw", "2 ltw 5", "ltw 5 lvtw", "5 lvtw 5", "ca2 caii car", "car 2 ltw 5", "ltw 5 lvtw 5", "p27139", "p27139 1", "cah2_rat", "np_062164" ] }, { "record_id": "doid.0110941", "record_type": "disease", "section": "proteins", "phraselist": [ "carbonic anhydrase", "cg7820 pa", "cah1 pa", "pa cah1", "cg7820 pa cah1", "pa cah1 pa", "cg7820 pa cah1 pa", "anhydrase 1", "carbonic anhydrase 1", "cop9 signalosome", "signalosome complex", "complex subunit", "subunit 5", "cop9 signalosome complex", "signalosome complex subunit", "complex subunit 5", "cop9 signalosome complex subunit", "signalosome complex subunit 5", "cop9 signalosome complex subunit 5", "3.4. .", "38 kda", "kda mov34", "mov34 homolog", "signalosome subunit", "jun activation", "activation domain", "domain binding", "binding protein", "protein 1", "cop9 constitutive", "constitutive photomorphogenic", "photomorphogenic homolog", "homolog subunit", "testis secretory", "secretory sperm", "sperm binding", "protein li", "li 231m", "38 kda mov34", "kda mov34 homolog", "homolog signalosome", "signalosome subunit 5", "5 jun", "jun activation domain", "activation domain binding", "domain binding protein", "binding protein 1", "1 cop9", "cop9 constitutive photomorphogenic", "constitutive photomorphogenic homolog", "photomorphogenic homolog subunit", "homolog subunit 5", "5 testis", "testis secretory sperm", "secretory sperm binding", "sperm binding protein", "binding protein li", "protein li 231m", "38 kda mov34 homolog", "mov34 homolog signalosome", "homolog signalosome subunit", "subunit 5 jun", "5 jun activation", "jun activation domain binding", "activation domain binding protein", "domain binding protein 1", "protein 1 cop9", "1 cop9 constitutive", "cop9 constitutive photomorphogenic homolog", "constitutive photomorphogenic homolog subunit", "photomorphogenic homolog subunit 5", "subunit 5 testis", "5 testis secretory", "testis secretory sperm binding", "secretory sperm binding protein", "sperm binding protein li", "binding protein li 231m", "kda mov34 homolog signalosome", "mov34 homolog signalosome subunit", "homolog signalosome subunit 5", "signalosome subunit 5 jun", "subunit 5 jun activation", "5 jun activation domain", "jun activation domain binding protein", "activation domain binding protein 1", "binding protein 1 cop9", "protein 1 cop9 constitutive", "1 cop9 constitutive photomorphogenic", "cop9 constitutive photomorphogenic homolog subunit", "constitutive photomorphogenic homolog subunit 5", "homolog subunit 5 testis", "subunit 5 testis secretory", "5 testis secretory sperm", "testis secretory sperm binding protein", "secretory sperm binding protein li", "sperm binding protein li 231m", "anhydrase 2", "carbonic anhydrase 2", "ca ii", "carbonate dehydratase", "dehydratase ii", "carbonate dehydratase ii", "anhydrase c", "carbonic anhydrase c", "anhydrase ii", "carbonic anhydrase ii", "cyanamide hydratase", "hydratase ca2", "cyanamide hydratase ca2", "epididymis secretory", "secretory protein", "li 282", "carbonic dehydratase", "anhydrase b", "epididymis luminal", "luminal protein", "protein 76", "ii epididymis", "epididymis secretory protein", "secretory protein li", "protein li 282", "282 carbonic", "dehydratase carbonic", "carbonic anhydrase b", "b carbonic", "c carbonic", "epididymis luminal protein", "luminal protein 76", "76 cyanamide", "dehydratase ii epididymis", "ii epididymis secretory", "epididymis secretory protein li", "secretory protein li 282", "li 282 carbonic", "282 carbonic dehydratase", "carbonic dehydratase carbonic", "dehydratase carbonic anhydrase", "anhydrase b carbonic", "b carbonic anhydrase", "anhydrase c carbonic", "c carbonic anhydrase", "anhydrase ii epididymis", "ii epididymis luminal", "epididymis luminal protein 76", "protein 76 cyanamide", "76 cyanamide hydratase", "carbonate dehydratase ii epididymis", "dehydratase ii epididymis secretory", "ii epididymis secretory protein", "epididymis secretory protein li 282", "protein li 282 carbonic", "li 282 carbonic dehydratase", "carbonic dehydratase carbonic anhydrase", "dehydratase carbonic anhydrase b", "carbonic anhydrase b carbonic", "anhydrase b carbonic anhydrase", "b carbonic anhydrase c", "carbonic anhydrase c carbonic", "anhydrase c carbonic anhydrase", "c carbonic anhydrase ii", "carbonic anhydrase ii epididymis", "anhydrase ii epididymis luminal", "ii epididymis luminal protein", "luminal protein 76 cyanamide", "protein 76 cyanamide hydratase", "76 cyanamide hydratase ca2", "2 isoform", "isoform 1", "anhydrase 2 isoform", "2 isoform 1", "carbonic anhydrase 2 isoform", "anhydrase 2 isoform 1", "carbonic anhydrase 2 isoform 1", "zca2 like", "like b", "dehydratase zcab", "zcab zca2", "zca2 like b", "b ca2b", "carbonate dehydratase zcab", "zcab zca2 like", "like b ca2b", "dehydratase zcab zca2", "zcab zca2 like b", "zca2 like b ca2b", "ii carbonate", "ii cyanamide", "anhydrase ii carbonate", "ii carbonate dehydratase", "dehydratase ii cyanamide", "ii cyanamide hydratase", "carbonic anhydrase ii carbonate", "anhydrase ii carbonate dehydratase", "ii carbonate dehydratase ii", "carbonate dehydratase ii cyanamide", "dehydratase ii cyanamide hydratase", "ii cyanamide hydratase ca2", "ii carbonic", "ca ii carbonate", "dehydratase ii carbonic", "ii carbonic anhydrase", "anhydrase ii cyanamide", "ca ii carbonate dehydratase", "carbonate dehydratase ii carbonic", "dehydratase ii carbonic anhydrase", "ii carbonic anhydrase ii", "carbonic anhydrase ii cyanamide", "anhydrase ii cyanamide hydratase" ] } ]