{
    "disease_id": "DOID:0070746",
    "recommended_name": {
        "id": "DOID:0070746",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070746",
        "name": "HELIX syndrome",
        "description": "A syndrome characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia that has_material_basis_in homozygous mutation in the CLDN10 gene on chromosome 13q32."
    },
    "synonyms": [
        {
            "id": "DOID:0070746",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070746",
            "name": "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia",
            "description": ""
        },
        {
            "id": "MONDO:0060564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060564",
            "name": "HELIX syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060564",
            "name": "HELIX",
            "description": ""
        },
        {
            "id": "MONDO:0060564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060564",
            "name": "HELIX syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060564",
            "name": "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome",
            "description": ""
        },
        {
            "id": "MIM:617671",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617671",
            "name": "HELIX syndrome",
            "description": "HELIX syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070746"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070746",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070746",
            "categories": []
        },
        {
            "id": "MONDO:0060564",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060564",
            "categories": []
        },
        {
            "id": "MIM:617671",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617671",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P78369-1",
            "uniprot_ac": "P78369",
            "uniprot_id": "CLD10_HUMAN",
            "refseq_ac": "NP_001153572",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-10",
                    "type": "recommended"
                },
                {
                    "name": "OSP-like protein",
                    "type": "synonym"
                },
                {
                    "name": "OSP-like",
                    "type": "synonym"
                },
                {
                    "name": "Oligodendrocyte-specific protein-like",
                    "type": "synonym"
                },
                {
                    "name": "claudin-10 isoform a_i1",
                    "type": "synonym"
                },
                {
                    "name": "oligodendrocyte-specific protein-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLDN10",
                    "type": "recommended"
                },
                {
                    "name": "CLDN10",
                    "type": "synonym"
                },
                {
                    "name": "CPETRL3",
                    "type": "synonym"
                },
                {
                    "name": "HELIX",
                    "type": "synonym"
                },
                {
                    "name": "OSP-L",
                    "type": "synonym"
                },
                {
                    "name": "OSPL",
                    "type": "synonym"
                }
            ],
            "record_id": "P78369-1",
            "evidence": [
                {
                    "id": "617671",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617671"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070746"
}