{
    "disease_id": "DOID:0111651",
    "recommended_name": {
        "id": "DOID:0111651",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111651",
        "name": "ectodermal dysplasia 15",
        "description": "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111651",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111651",
            "name": "ECTD15",
            "description": ""
        },
        {
            "id": "DOID:0111651",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111651",
            "name": "ectodermal dysplasia 15, hypohidrotic/hair type",
            "description": ""
        },
        {
            "id": "MONDO:0032804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032804",
            "name": "ectodermal dysplasia 15, hypohidrotic/hair type",
            "description": ""
        },
        {
            "id": "MONDO:0032804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032804",
            "name": "ECTD15",
            "description": ""
        },
        {
            "id": "MIM:618535",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618535",
            "name": "Ectodermal dysplasia 15, hypohidrotic/hair type",
            "description": "Ectodermal dysplasia 15, hypohidrotic/hair type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111651"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111651",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111651",
            "categories": []
        },
        {
            "id": "MONDO:0032804",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032804",
            "categories": []
        },
        {
            "id": "MIM:618535",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618535",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q15828-1",
            "uniprot_ac": "Q15828",
            "uniprot_id": "CYTM_HUMAN",
            "refseq_ac": "NP_001314",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystatin-M",
                    "type": "recommended"
                },
                {
                    "name": "Cystatin-6",
                    "type": "synonym"
                },
                {
                    "name": "Cystatin-E",
                    "type": "synonym"
                },
                {
                    "name": "cystatin 6",
                    "type": "synonym"
                },
                {
                    "name": "cystatin M/E",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-E",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-M precursor",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-M",
                    "type": "synonym"
                },
                {
                    "name": "cysteine proteinase inhibitor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CST6",
                    "type": "recommended"
                },
                {
                    "name": "CST6",
                    "type": "synonym"
                },
                {
                    "name": "ECTD15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15828-1",
            "evidence": [
                {
                    "id": "618535",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618535"
                },
                {
                    "id": "0111651",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111651"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111651"
}