{
    "disease_id": "DOID:0080331",
    "recommended_name": {
        "id": "DOID:0080331",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080331",
        "name": "cold-induced sweating syndrome 3",
        "description": "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "PERCHING syndrome",
            "description": "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene."
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "CISS3",
            "description": ""
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "KLHL7 cold-induced sweating syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "PERCHING",
            "description": ""
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "cold-induced sweating syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "cold-induced sweating syndrome caused by mutation in KLHL7",
            "description": ""
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "cold-induced sweating syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "CRISPONI/cold-induced sweating syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "name": "Crisponi/cold-induced sweating syndrome 3",
            "description": ""
        },
        {
            "id": "MIM:617055",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617055",
            "name": "Perching syndrome",
            "description": "Perching syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080331"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080331",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080331",
            "categories": []
        },
        {
            "id": "MONDO:0014890",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014890",
            "categories": []
        },
        {
            "id": "MIM:617055",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617055",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BUL5-1",
            "uniprot_ac": "Q8BUL5",
            "uniprot_id": "KLHL7_MOUSE",
            "refseq_ac": "NP_080724",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain containing protein; kelch-like protein 7",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 7 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klhl7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2700038B03Rik; D5Ertd363e; SBBI26",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Klhl7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080331",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IXQ5-1",
            "uniprot_ac": "Q8IXQ5",
            "uniprot_id": "KLHL7_HUMAN",
            "refseq_ac": "NP_001026880",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "kelch-like 6; kelch-like protein 7; kelch/BTB; kelch-like 7",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 7 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KLHL7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CISS3; KLHL6; PERCHING; SBBI26",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "KLHL7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080331",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080331"
                },
                {
                    "id": "617055",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XHZ6-1",
            "uniprot_ac": "Q5XHZ6",
            "uniprot_id": "KLHL7_RAT",
            "refseq_ac": "NP_001012187",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "kelch-like 7",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klhl7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Klhl7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080331",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080331"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080331"
}