[ { "record_id": "doid.0081200", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0081200", "0081200", "mondo:0013785", "0013785", "mim:614499", "614499" ] }, { "record_id": "doid.0081200", "record_type": "disease", "section": "disease_name", "phraselist": [ "autosomal", "recessive", "intellectual", "developmental", "disorder", "34", "autosomal recessive", "recessive intellectual", "intellectual developmental", "developmental disorder", "disorder 34", "autosomal recessive intellectual", "recessive intellectual developmental", "intellectual developmental disorder", "developmental disorder 34", "autosomal recessive intellectual developmental", "recessive intellectual developmental disorder", "intellectual developmental disorder 34", "autosomal recessive intellectual developmental disorder", "recessive intellectual developmental disorder 34", "intellectual disability", "recessive 34", "disability autosomal", "autosomal recessive 34", "intellectual disability autosomal", "disability autosomal recessive", "intellectual disability autosomal recessive", "disability autosomal recessive 34", "cradd autosomal", "recessive non", "non syndromic", "syndromic intellectual", "cradd autosomal recessive", "autosomal recessive non", "recessive non syndromic", "non syndromic intellectual", "syndromic intellectual disability", "cradd autosomal recessive non", "autosomal recessive non syndromic", "recessive non syndromic intellectual", "non syndromic intellectual disability", "cradd autosomal recessive non syndromic", "autosomal recessive non syndromic intellectual", "recessive non syndromic intellectual disability", "disability caused", "caused by", "by mutation", "mutation in", "in cradd", "intellectual disability caused", "disability caused by", "caused by mutation", "by mutation in", "mutation in cradd", "syndromic intellectual disability caused", "intellectual disability caused by", "disability caused by mutation", "caused by mutation in", "by mutation in cradd", "non syndromic intellectual disability caused", "syndromic intellectual disability caused by", "intellectual disability caused by mutation", "disability caused by mutation in", "caused by mutation in cradd", "with variant", "variant lissencephaly", "disorder autosomal", "34 with", "with variant lissencephaly", "developmental disorder autosomal", "disorder autosomal recessive", "recessive 34 with", "34 with variant", "intellectual developmental disorder autosomal", "developmental disorder autosomal recessive", "disorder autosomal recessive 34", "autosomal recessive 34 with", "recessive 34 with variant", "34 with variant lissencephaly", "recessive type", "type 34", "autosomal recessive type", "recessive type 34", "autosomal recessive type 34", "disability autosomal recessive type", "mental retardation", "retardation autosomal", "mental retardation autosomal", "retardation autosomal recessive", "mental retardation autosomal recessive", "retardation autosomal recessive type", "retardation autosomal recessive 34" ] }, { "record_id": "doid.0081200", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0081200", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0081200", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0081200", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0081200", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0081200", "record_type": "disease", "section": "proteins", "phraselist": [ "p78560", "p78560 1", "cradd_human", "np_001307028", "cradd", "mrt34", "raidd", "mrt34 raidd", "q5xjp2", "q5xjp2 1", "q5xjp2_danre", "np_001006066", "zgc:101717", "o88843", "o88843 1", "cradd_mouse", "np_001317067", "a0a8i6agr2", "a0a8i6agr2 1", "a0a8i6agr2_rat", "p37727", "p37727 1", "rae1_rat", "np_058763", "chm", "rep1" ] }, { "record_id": "doid.0081200", "record_type": "disease", "section": "proteins", "phraselist": [ "death domain", "domain containing", "containing protein", "protein cradd", "death domain containing", "domain containing protein", "containing protein cradd", "death domain containing protein", "domain containing protein cradd", "death domain containing protein cradd", "caspase and", "and rip", "rip adapter", "adapter with", "with death", "caspase and rip", "and rip adapter", "rip adapter with", "adapter with death", "with death domain", "caspase and rip adapter", "and rip adapter with", "rip adapter with death", "adapter with death domain", "caspase and rip adapter with", "and rip adapter with death", "rip adapter with death domain", "rip associated", "associated protein", "protein with", "with a", "a death", "rip associated protein", "associated protein with", "protein with a", "with a death", "a death domain", "rip associated protein with", "associated protein with a", "protein with a death", "with a death domain", "rip associated protein with a", "associated protein with a death", "protein with a death domain", "rip adaptor", "adaptor with", "casp2 and", "and ripk1", "ripk1 domain", "containing adaptor", "associated ich1/ced3", "ich1/ced3 homologous", "homologous protein", "death adaptor", "adaptor molecule", "molecule raidd", "cradd/lyz fusion", "and rip adaptor", "rip adaptor with", "adaptor with death", "domain casp2", "casp2 and ripk1", "and ripk1 domain", "ripk1 domain containing", "domain containing adaptor", "containing adaptor with", "domain rip", "rip associated ich1/ced3", "associated ich1/ced3 homologous", "ich1/ced3 homologous protein", "homologous protein with", "protein with death", "domain death", "death adaptor molecule", "adaptor molecule raidd", "raidd death", "cradd cradd/lyz", "caspase and rip adaptor", "and rip adaptor with", "rip adaptor with death", "adaptor with death domain", "death domain casp2", "domain casp2 and", "casp2 and ripk1 domain", "and ripk1 domain containing", "ripk1 domain containing adaptor", "domain containing adaptor with", "containing adaptor with death", "death domain rip", "domain rip associated", "rip associated ich1/ced3 homologous", "associated ich1/ced3 homologous protein", "ich1/ced3 homologous protein with", "homologous protein with death", "protein with death domain", "death domain death", "domain death adaptor", "death adaptor molecule raidd", "molecule raidd death", "raidd death domain", "protein cradd cradd/lyz", "cradd cradd/lyz fusion", "caspase and rip adaptor with", "and rip adaptor with death", "rip adaptor with death domain", "with death domain casp2", "death domain casp2 and", "domain casp2 and ripk1", "casp2 and ripk1 domain containing", "and ripk1 domain containing adaptor", "ripk1 domain containing adaptor with", "domain containing adaptor with death", "containing adaptor with death domain", "with death domain rip", "death domain rip associated", "domain rip associated ich1/ced3", "rip associated ich1/ced3 homologous protein", "associated ich1/ced3 homologous protein with", "ich1/ced3 homologous protein with death", "homologous protein with death domain", "with death domain death", "death domain death adaptor", "domain death adaptor molecule", "adaptor molecule raidd death", "molecule raidd death domain", "raidd death domain containing", "containing protein cradd cradd/lyz", "protein cradd cradd/lyz fusion", "cradd isoform", "isoform 1", "protein cradd isoform", "cradd isoform 1", "containing protein cradd isoform", "protein cradd isoform 1", "domain containing protein cradd isoform", "containing protein cradd isoform 1", "domain rip associated protein", "rab proteins", "proteins geranylgeranyltransferase", "geranylgeranyltransferase component", "component a", "a 1", "rab proteins geranylgeranyltransferase", "proteins geranylgeranyltransferase component", "geranylgeranyltransferase component a", "component a 1", "rab proteins geranylgeranyltransferase component", "proteins geranylgeranyltransferase component a", "geranylgeranyltransferase component a 1", "rab proteins geranylgeranyltransferase component a", "proteins geranylgeranyltransferase component a 1", "choroideremia protein", "protein homolog", "choroideremia protein homolog", "rep 1", "rab escort", "escort protein", "protein 1", "rab escort protein", "escort protein 1", "rab escort protein 1", "1 isoform", "a 1 isoform", "1 isoform 1", "component a 1 isoform", "a 1 isoform 1", "geranylgeranyltransferase component a 1 isoform", "component a 1 isoform 1", "choroideraemia protein", "1 rep", "1 rab", "1 choroideraemia", "choroideraemia protein homolog", "homolog choroidermia", "choroidermia choroideremia", "choroideremia rab", "homolog chm", "chm rab", "a 1 rep", "1 rep 1", "rep 1 rab", "1 rab escort", "protein 1 choroideraemia", "1 choroideraemia protein", "protein homolog choroidermia", "choroideremia rab escort", "1 choroideremia", "protein homolog chm", "chm rab escort", "component a 1 rep", "a 1 rep 1", "rep 1 rab escort", "1 rab escort protein", "escort protein 1 choroideraemia", "protein 1 choroideraemia protein", "1 choroideraemia protein homolog", "choroideraemia protein homolog choroidermia", "homolog choroidermia choroideremia", "choroidermia choroideremia rab", "choroideremia rab escort protein", "protein 1 choroideremia", "1 choroideremia protein", "choroideremia protein homolog chm", "homolog chm rab", "chm rab escort protein" ] } ]