{
    "disease_id": "DOID:0070723",
    "recommended_name": {
        "id": "DOID:0070723",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070723",
        "name": "dyschromatosis, ichthyosis, deafness, and atopic disease",
        "description": "A syndrome characterized by generalized hyperpigmentation with hypopigmented spots, ichthyosis, sensorineural hearing loss, atopic dermatitis, asthma, and allergic rhinitis that has_material_basis_in compound heterozygous mutation in the OSBPL2 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070723",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070723",
            "name": "DIDA",
            "description": ""
        },
        {
            "id": "MONDO:0980712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980712",
            "name": "dyschromatosis, ichthyosis, deafness, and atopic disease",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070723"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070723",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070723",
            "categories": []
        },
        {
            "id": "MONDO:0980712",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980712",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H1P3-1",
            "uniprot_ac": "Q9H1P3",
            "uniprot_id": "OSBL2_HUMAN",
            "refseq_ac": "NP_055650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Oxysterol-binding protein-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ORP-2",
                    "type": "synonym"
                },
                {
                    "name": "OSBP-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol-binding protein-related protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol-binding protein-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OSBPL2",
                    "type": "recommended"
                },
                {
                    "name": "DFNA67",
                    "type": "synonym"
                },
                {
                    "name": "DIDA",
                    "type": "synonym"
                },
                {
                    "name": "DNFA67",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0772",
                    "type": "synonym"
                },
                {
                    "name": "ORP-2",
                    "type": "synonym"
                },
                {
                    "name": "ORP2",
                    "type": "synonym"
                },
                {
                    "name": "OSBPL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H1P3-1",
            "evidence": [
                {
                    "id": "621400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621400"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070723"
}