[ { "record_id": "doid.0080331", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0080331", "0080331", "mondo:0014890", "0014890", "mim:617055", "617055" ] }, { "record_id": "doid.0080331", "record_type": "disease", "section": "disease_name", "phraselist": [ "cold", "induced", "sweating", "syndrome", "cold induced", "induced sweating", "sweating syndrome", "syndrome 3", "cold induced sweating", "induced sweating syndrome", "sweating syndrome 3", "cold induced sweating syndrome", "induced sweating syndrome 3", "cold induced sweating syndrome 3", "perching syndrome", "klhl7 cold", "klhl7 cold induced", "klhl7 cold induced sweating", "klhl7 cold induced sweating syndrome", "klhl7 related", "related bohring", "bohring opitz", "opitz like/cold", "like/cold induced", "sweating like", "like overlap", "overlap syndrome", "klhl7 related bohring", "related bohring opitz", "bohring opitz like/cold", "opitz like/cold induced", "like/cold induced sweating", "induced sweating like", "sweating like overlap", "like overlap syndrome", "klhl7 related bohring opitz", "related bohring opitz like/cold", "bohring opitz like/cold induced", "opitz like/cold induced sweating", "like/cold induced sweating like", "induced sweating like overlap", "sweating like overlap syndrome", "klhl7 related bohring opitz like/cold", "related bohring opitz like/cold induced", "bohring opitz like/cold induced sweating", "opitz like/cold induced sweating like", "like/cold induced sweating like overlap", "induced sweating like overlap syndrome", "postural and", "and palatal", "palatal abnormalities", "exophthalmos and", "and enteral", "enteral tube", "tube dependency/feeding", "dependency/feeding issues", "respiratory distress", "distress and", "and retinitis", "retinitis pigmentosa", "contractures and", "and camptodactyly", "hypertelorism and", "and hirsutism", "intrauterine growth", "growth retardation", "iugr /growth", "/growth failure", "failure and", "and intellectual", "intellectual disability/developmental", "disability/developmental delay", "nevus flammeus", "flammeus and", "and neurologic", "neurologic malformations", "malformations and", "and facial", "facial gestalt/grimacing", "gestalt/grimacing and", "and genitourinary", "genitourinary abnormalities", "postural and palatal", "and palatal abnormalities", "abnormalities exophthalmos", "exophthalmos and enteral", "and enteral tube", "enteral tube dependency/feeding", "tube dependency/feeding issues", "issues respiratory", "respiratory distress and", "distress and retinitis", "and retinitis pigmentosa", "pigmentosa contractures", "contractures and camptodactyly", "camptodactyly hypertelorism", "hypertelorism and hirsutism", "hirsutism intrauterine", "intrauterine growth retardation", "retardation iugr", "iugr /growth failure", "/growth failure and", "failure and intellectual", "and intellectual disability/developmental", "intellectual disability/developmental delay", "delay nevus", "nevus flammeus and", "flammeus and neurologic", "and neurologic malformations", "neurologic malformations and", "malformations and facial", "and facial gestalt/grimacing", "facial gestalt/grimacing and", "gestalt/grimacing and genitourinary", "and genitourinary abnormalities", "postural and palatal abnormalities", "palatal abnormalities exophthalmos", "abnormalities exophthalmos and", "exophthalmos and enteral tube", "and enteral tube dependency/feeding", "enteral tube dependency/feeding issues", "dependency/feeding issues respiratory", "issues respiratory distress", "respiratory distress and retinitis", "distress and retinitis pigmentosa", "retinitis pigmentosa contractures", "pigmentosa contractures and", "and camptodactyly hypertelorism", "camptodactyly hypertelorism and", "and hirsutism intrauterine", "hirsutism intrauterine growth", "growth retardation iugr", "retardation iugr /growth", "iugr /growth failure and", "/growth failure and intellectual", "failure and intellectual disability/developmental", "and intellectual disability/developmental delay", "disability/developmental delay nevus", "delay nevus flammeus", "nevus flammeus and neurologic", "flammeus and neurologic malformations", "and neurologic malformations and", "neurologic malformations and facial", "malformations and facial gestalt/grimacing", "and facial gestalt/grimacing and", "facial gestalt/grimacing and genitourinary", "gestalt/grimacing and genitourinary abnormalities", "and palatal abnormalities exophthalmos", "palatal abnormalities exophthalmos and", "abnormalities exophthalmos and enteral", "exophthalmos and enteral tube dependency/feeding", "and enteral tube dependency/feeding issues", "tube dependency/feeding issues respiratory", "dependency/feeding issues respiratory distress", "issues respiratory distress and", "respiratory distress and retinitis pigmentosa", "and retinitis pigmentosa contractures", "retinitis pigmentosa contractures and", "pigmentosa contractures and camptodactyly", "contractures and camptodactyly hypertelorism", "and camptodactyly hypertelorism and", "camptodactyly hypertelorism and hirsutism", "hypertelorism and hirsutism intrauterine", "and hirsutism intrauterine growth", "hirsutism intrauterine growth retardation", "intrauterine growth retardation iugr", "growth retardation iugr /growth", "retardation iugr /growth failure", "iugr /growth failure and intellectual", "/growth failure and intellectual disability/developmental", "failure and intellectual disability/developmental delay", "intellectual disability/developmental delay nevus", "disability/developmental delay nevus flammeus", "delay nevus flammeus and", "nevus flammeus and neurologic malformations", "flammeus and neurologic malformations and", "and neurologic malformations and facial", "neurologic malformations and facial gestalt/grimacing", "malformations and facial gestalt/grimacing and", "and facial gestalt/grimacing and genitourinary", "facial gestalt/grimacing and genitourinary abnormalities", "syndrome caused", "caused by", "by mutation", "mutation in", "in klhl7", "sweating syndrome caused", "syndrome caused by", "caused by mutation", "by mutation in", "mutation in klhl7", "induced sweating syndrome caused", "sweating syndrome caused by", "syndrome caused by mutation", "caused by mutation in", "by mutation in klhl7", "cold induced sweating syndrome caused", "induced sweating syndrome caused by", "sweating syndrome caused by mutation", "syndrome caused by mutation in", "caused by mutation in klhl7", "syndrome type", "type 3", "sweating syndrome type", "syndrome type 3", "induced sweating syndrome type", "sweating syndrome type 3", "cold induced sweating syndrome type", "induced sweating syndrome type 3", "crisponi/cold induced", "crisponi/cold induced sweating", "crisponi/cold induced sweating syndrome", "crisponi/cold induced sweating syndrome 3" ] }, { "record_id": "doid.0080331", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0080331", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0080331", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0080331", "record_type": "disease", "section": "proteins", "phraselist": [ "q8ixq5", "q8ixq5 1", "klhl7_human", "np_001026880", "glycoprotein", "klhl7", "ciss3", "klhl6", "perching", "sbbi26", "ciss3 klhl6", "klhl6 perching", "perching sbbi26", "ciss3 klhl6 perching", "klhl6 perching sbbi26", "q8bul5", "q8bul5 1", "klhl7_mouse", "np_080724", "2700038b03rik", "d5ertd363e", "2700038b03rik d5ertd363e", "d5ertd363e sbbi26", "2700038b03rik d5ertd363e sbbi26", "q5xhz6", "q5xhz6 1", "klhl7_rat", "np_001012187" ] }, { "record_id": "doid.0080331", "record_type": "disease", "section": "proteins", "phraselist": [ "kelch like", "like protein", "protein 7", "kelch like protein", "like protein 7", "kelch like protein 7", "like 6", "like 7", "kelch like 6", "6 kelch", "7 kelch/btb", "kelch/btb kelch", "kelch like 7", "like 6 kelch", "6 kelch like", "protein 7 kelch/btb", "kelch/btb kelch like", "kelch like 6 kelch", "like 6 kelch like", "6 kelch like protein", "like protein 7 kelch/btb", "7 kelch/btb kelch", "kelch/btb kelch like 7", "7 isoform", "isoform 1", "protein 7 isoform", "7 isoform 1", "like protein 7 isoform", "protein 7 isoform 1", "kelch like protein 7 isoform", "like protein 7 isoform 1", "btb/poz domain", "domain containing", "containing protein", "btb/poz domain containing", "domain containing protein", "protein kelch", "btb/poz domain containing protein", "containing protein kelch", "protein kelch like", "domain containing protein kelch", "containing protein kelch like", "protein kelch like protein" ] } ]