[ { "record_id": "doid.0060412", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0060412", "0060412", "mondo:0012927", "0012927" ] }, { "record_id": "doid.0060412", "record_type": "disease", "section": "disease_name", "phraselist": [ "chromosome", "1q41", "q42", "deletion", "syndrome", "chromosome 1q41", "1q41 q42", "q42 deletion", "deletion syndrome", "chromosome 1q41 q42", "1q41 q42 deletion", "q42 deletion syndrome", "chromosome 1q41 q42 deletion", "1q41 q42 deletion syndrome", "chromosome 1q41 q42 deletion syndrome", "q42 microdeletion", "microdeletion syndrome", "1q41 q42 microdeletion", "q42 microdeletion syndrome", "1q41 q42 microdeletion syndrome", "1q41q42 microdeletion", "1q41q42 microdeletion syndrome", "del 1", "1 q41q42", "del 1 q41q42", "isolated cases", "syndrome isolated", "deletion syndrome isolated", "syndrome isolated cases", "q42 deletion syndrome isolated", "deletion syndrome isolated cases", "monosomy 1q41", "monosomy 1q41 q42", "monosomy 1q41q42", "deletion 1q41", "deletion 1q41 q42", "holoprosencephaly 10" ] }, { "record_id": "doid.0060412", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "doid.0060412", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0060412", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0060412", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0060412", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0060412", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0060412", "record_type": "disease", "section": "proteins", "phraselist": [ "q86bg1", "q86bg1 1", "q86bg1_drome", "np_788423", "aspp", "cg18375", "daspp", "dmel\\cg18375", "cg18375 daspp", "daspp dmel\\cg18375", "cg18375 daspp dmel\\cg18375", "dmel_cg18375", "q13625", "q13625 1", "aspp2_human", "np_001026855", "glycoprotein", "tp53bp2", "53bp2", "aspp2", "bbp", "p53bp2", "ppp1r13a", "53bp2 aspp2", "aspp2 bbp", "bbp p53bp2", "p53bp2 ppp1r13a", "53bp2 aspp2 bbp", "aspp2 bbp p53bp2", "bbp p53bp2 ppp1r13a", "f1r419", "f1r419 1", "f1r419_danre", "tp53bp2a", "wu:fa09h08", "wu:fb04e08", "zgc:85720", "f1qwn1", "f1qwn1 1", "f1qwn1_danre", "xp_005161866", "tp53bp2b", "si:dkeyp", "34c12.2", "si:dkeyp 34c12.2", "q8cg79", "q8cg79 1", "aspp2_mouse", "np_775554", "trp53bp2", "aspp2 ppp1r13a", "ppp1r13a tp53bp2", "53bp2 aspp2 ppp1r13a", "aspp2 ppp1r13a tp53bp2", "f1m5h6", "f1m5h6 1", "f1m5h6_rat", "np_001414346" ] }, { "record_id": "doid.0060412", "record_type": "disease", "section": "proteins", "phraselist": [ "ankyrin repeat", "sh3 domain", "and proline", "proline rich", "rich region", "region containing", "containing protein", "isoform b", "repeat sh3", "domain and", "and proline rich", "proline rich region", "rich region containing", "region containing protein", "protein isoform", "ankyrin repeat sh3", "repeat sh3 domain", "sh3 domain and", "domain and proline", "and proline rich region", "proline rich region containing", "rich region containing protein", "containing protein isoform", "protein isoform b", "ankyrin repeat sh3 domain", "sh3 domain and proline", "domain and proline rich", "and proline rich region containing", "proline rich region containing protein", "region containing protein isoform", "containing protein isoform b", "cg18375 pb", "aspp pb", "pb aspp", "pb ankyrin", "cg18375 pb aspp", "pb aspp pb", "aspp pb ankyrin", "pb ankyrin repeat", "cg18375 pb aspp pb", "aspp pb ankyrin repeat", "repeat sh3 domain and", "sh3 domain and proline rich", "domain and proline rich region", "apoptosis stimulating", "stimulating of", "of p53", "p53 protein", "protein 2", "apoptosis stimulating of", "stimulating of p53", "of p53 protein", "p53 protein 2", "apoptosis stimulating of p53", "stimulating of p53 protein", "of p53 protein 2", "apoptosis stimulating of p53 protein", "stimulating of p53 protein 2", "bcl2 binding", "binding protein", "tumor suppressor", "suppressor p53", "p53 binding", "stimulating protein", "protein of", "renal carcinoma", "carcinoma antigen", "antigen ny", "ny ren", "ren 51", "bcl2 binding protein", "protein tumor", "tumor suppressor p53", "suppressor p53 binding", "p53 binding protein", "binding protein 2", "2 apoptosis", "apoptosis stimulating protein", "stimulating protein of", "protein of p53", "p53 2", "2 renal", "renal carcinoma antigen", "carcinoma antigen ny", "antigen ny ren", "ny ren 51", "binding protein tumor", "protein tumor suppressor", "tumor suppressor p53 binding", "suppressor p53 binding protein", "p53 binding protein 2", "protein 2 apoptosis", "2 apoptosis stimulating", "apoptosis stimulating protein of", "stimulating protein of p53", "of p53 2", "2 renal carcinoma", "renal carcinoma antigen ny", "carcinoma antigen ny ren", "antigen ny ren 51", "bcl2 binding protein tumor", "binding protein tumor suppressor", "protein tumor suppressor p53", "tumor suppressor p53 binding protein", "suppressor p53 binding protein 2", "binding protein 2 apoptosis", "protein 2 apoptosis stimulating", "2 apoptosis stimulating protein", "apoptosis stimulating protein of p53", "protein of p53 2", "p53 2 renal", "2 renal carcinoma antigen", "renal carcinoma antigen ny ren", "carcinoma antigen ny ren 51", "2 isoform", "isoform 1", "protein 2 isoform", "2 isoform 1", "p53 protein 2 isoform", "protein 2 isoform 1", "of p53 protein 2 isoform", "p53 protein 2 isoform 1", "protein 2a", "2a isoform", "isoform x1", "p53 protein 2a", "protein 2a isoform", "2a isoform x1", "of p53 protein 2a", "p53 protein 2a isoform", "protein 2a isoform x1", "stimulating of p53 protein 2a", "of p53 protein 2a isoform", "p53 protein 2a isoform x1", "tumor protein", "protein p53", "tumor protein p53", "protein p53 binding", "tumor protein p53 binding", "protein p53 binding protein", "binding protein 2a", "tumor protein p53 binding protein", "p53 binding protein 2a", "protein 2b", "2b isoform", "p53 protein 2b", "protein 2b isoform", "2b isoform x1", "of p53 protein 2b", "p53 protein 2b isoform", "protein 2b isoform x1", "stimulating of p53 protein 2b", "of p53 protein 2b isoform", "p53 protein 2b isoform x1", "binding protein 2b", "p53 binding protein 2b", "2 p53bp2", "p53bp2 p53", "2 tumor", "p53bp2 p53 binding", "protein 2 tumor", "2 tumor suppressor", "protein 2 p53bp2", "2 p53bp2 p53", "p53bp2 p53 binding protein", "binding protein 2 tumor", "protein 2 tumor suppressor", "2 tumor suppressor p53", "transformation related", "related protein", "protein 53", "53 binding", "transformation related protein", "related protein 53", "protein 53 binding", "53 binding protein", "transformation related protein 53", "related protein 53 binding", "protein 53 binding protein", "53 binding protein 2", "transformation related protein 53 binding", "related protein 53 binding protein", "protein 53 binding protein 2" ] } ]