[ { "record_id": "doid.0060179", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0060179", "0060179", "mondo:0010653", "0010653", "mim:309500", "309500" ] }, { "record_id": "doid.0060179", "record_type": "disease", "section": "disease_name", "phraselist": [ "renpenning", "syndrome", "renpenning syndrome", "golabi ito", "ito hall", "hall syndrome", "golabi ito hall", "ito hall syndrome", "golabi ito hall syndrome", "x linked", "linked intellectual", "intellectual disability", "renpenning type", "x linked intellectual", "linked intellectual disability", "disability renpenning", "x linked intellectual disability", "intellectual disability renpenning", "disability renpenning type", "linked intellectual disability renpenning", "intellectual disability renpenning type", "linked mental", "mental retardation", "retardation renpenning", "x linked mental", "linked mental retardation", "mental retardation renpenning", "retardation renpenning type", "x linked mental retardation", "linked mental retardation renpenning", "mental retardation renpenning type", "x linked mental retardation renpenning", "linked mental retardation renpenning type", "retardation with", "with spastic", "spastic diplegia", "mental retardation with", "retardation with spastic", "with spastic diplegia", "linked mental retardation with", "mental retardation with spastic", "retardation with spastic diplegia", "x linked mental retardation with", "linked mental retardation with spastic", "mental retardation with spastic diplegia", "syndromic x", "retardation 8", "syndromic x linked", "mental retardation 8", "syndromic x linked mental", "linked mental retardation 8", "syndromic x linked mental retardation", "x linked mental retardation 8", "disability due", "due to", "to pqbp1", "pqbp1 mutations", "intellectual disability due", "disability due to", "due to pqbp1", "to pqbp1 mutations", "linked intellectual disability due", "intellectual disability due to", "disability due to pqbp1", "due to pqbp1 mutations", "x linked intellectual disability due", "linked intellectual disability due to", "intellectual disability due to pqbp1", "disability due to pqbp1 mutations", "sutherland haan", "haan x", "retardation syndrome", "sutherland haan x", "haan x linked", "mental retardation syndrome", "sutherland haan x linked", "haan x linked mental", "linked mental retardation syndrome", "sutherland haan x linked mental", "haan x linked mental retardation", "x linked mental retardation syndrome", "syndrome type", "type 1", "renpenning syndrome type", "syndrome type 1", "renpenning syndrome type 1", "disability syndrome", "intellectual disability syndrome", "haan x linked intellectual", "linked intellectual disability syndrome", "sutherland haan x linked intellectual", "haan x linked intellectual disability", "x linked intellectual disability syndrome", "x linked intellectual disability renpenning", "linked intellectual disability renpenning type", "disability with", "intellectual disability with", "disability with spastic", "linked intellectual disability with", "intellectual disability with spastic", "disability with spastic diplegia", "x linked intellectual disability with", "linked intellectual disability with spastic", "intellectual disability with spastic diplegia", "linked recessive", "syndrome x", "x linked recessive", "renpenning syndrome x", "syndrome x linked", "renpenning syndrome x linked", "syndrome x linked recessive", "disability 8", "intellectual disability 8", "syndromic x linked intellectual", "linked intellectual disability 8", "syndromic x linked intellectual disability", "x linked intellectual disability 8", "syndrome 1", "renpenning syndrome 1", "haan syndrome", "sutherland haan syndrome", "disability syndromic", "syndromic 3", "intellectual disability syndromic", "disability syndromic 3", "linked intellectual disability syndromic", "intellectual disability syndromic 3", "x linked intellectual disability syndromic", "linked intellectual disability syndromic 3", "retardation syndromic", "mental retardation syndromic", "retardation syndromic 3", "linked mental retardation syndromic", "mental retardation syndromic 3", "x linked mental retardation syndromic", "linked mental retardation syndromic 3", "linked 55", "disability x", "x linked 55", "intellectual disability x", "disability x linked", "intellectual disability x linked", "disability x linked 55", "linked renpenning", "x linked renpenning", "linked renpenning type", "x linked renpenning type", "disability x linked renpenning", "linked syndromic", "x linked syndromic", "linked syndromic 3", "x linked syndromic 3", "syndromic 8", "linked syndromic 8", "x linked syndromic 8", "linked with", "x linked with", "linked with spastic", "x linked with spastic", "linked with spastic diplegia", "retardation x", "mental retardation x", "retardation x linked", "mental retardation x linked", "retardation x linked 55", "retardation x linked renpenning" ] }, { "record_id": "doid.0060179", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "doid.0060179", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0060179", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0060179", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0060179", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0060179", "record_type": "disease", "section": "proteins", "phraselist": [ "q9vby6", "q9vby6 1", "q9vby6_drome", "np_651331", "pqbp1", "cg11820", "dmel\\cg11820", "dpqbp", "dpqbp1", "pqbp", "dpqbp 1", "pqbp 1", "cg11820 dmel\\cg11820", "dmel\\cg11820 dpqbp", "1 dpqbp1", "dpqbp1 dpqbp1", "dpqbp1 pqbp", "dmel\\cg11820 dpqbp 1", "dpqbp 1 dpqbp1", "dpqbp1 pqbp 1", "cg11820 dmel\\cg11820 dpqbp", "1 dpqbp1 dpqbp1", "dpqbp1 dpqbp1 pqbp", "dmel_cg11820", "q91vj5", "q91vj5 1", "pqbp1_mouse", "np_001239457", "npw38", "sfc2", "npw38 pqbp", "1 sfc2", "npw38 pqbp 1", "pqbp 1 sfc2", "o60828", "o60828 1", "pqbp1_human", "np_001027553", "glycoprotein", "jm26", "mrx2", "mrx55", "mrxs3", "mrxs8", "rens1", "shs", "mrx2 mrx55", "mrx55 mrxs3", "mrxs3 mrxs8", "mrxs8 npw38", "npw38 rens1", "rens1 shs", "mrx2 mrx55 mrxs3", "mrx55 mrxs3 mrxs8", "mrxs3 mrxs8 npw38", "mrxs8 npw38 rens1", "npw38 rens1 shs", "q6dh51", "q6dh51 1", "q6dh51_danre", "np_001002435", "pqbp1l", "si:dz150f13.4", "zgc:92646", "pqbp1l si:dz150f13.4", "si:dz150f13.4 zgc:92646", "pqbp1l si:dz150f13.4 zgc:92646", "q6pct5", "q6pct5 1", "pqbp1_rat", "np_001013979" ] }, { "record_id": "doid.0060179", "record_type": "disease", "section": "proteins", "phraselist": [ "cg11820 pa", "pqbp1 pa", "pa pqbp1", "cg11820 pa pqbp1", "pa pqbp1 pa", "cg11820 pa pqbp1 pa", "poly glutamine", "glutamine tract", "tract binding", "binding protein", "protein 1", "poly glutamine tract", "glutamine tract binding", "tract binding protein", "binding protein 1", "poly glutamine tract binding", "glutamine tract binding protein", "tract binding protein 1", "poly glutamine tract binding protein", "glutamine tract binding protein 1", "polyglutamine binding", "polyglutamine binding protein", "polyglutamine binding protein 1", "38 kda", "kda nuclear", "nuclear protein", "protein containing", "containing a", "a ww", "ww domain", "38 kda nuclear", "kda nuclear protein", "nuclear protein containing", "protein containing a", "containing a ww", "a ww domain", "38 kda nuclear protein", "kda nuclear protein containing", "nuclear protein containing a", "protein containing a ww", "containing a ww domain", "38 kda nuclear protein containing", "kda nuclear protein containing a", "nuclear protein containing a ww", "protein containing a ww domain", "pqbp 1", "polyglutamine tract", "polyglutamine tract binding", "polyglutamine tract binding protein", "polyglutamine tract binding protein 1", "scurfy candidate", "candidate 2", "1 38", "domain scurfy", "scurfy candidate 2", "protein 1 38", "1 38 kda", "ww domain scurfy", "domain scurfy candidate", "binding protein 1 38", "protein 1 38 kda", "1 38 kda nuclear", "a ww domain scurfy", "ww domain scurfy candidate", "domain scurfy candidate 2", "1 isoform", "isoform 1", "protein 1 isoform", "1 isoform 1", "binding protein 1 isoform", "protein 1 isoform 1", "polyglutamine binding protein 1 isoform", "binding protein 1 isoform 1", "1 polyglutamine", "pqbp 1 polyglutamine", "1 polyglutamine tract", "pqbp 1 polyglutamine tract", "1 polyglutamine tract binding" ] } ]