{
    "disease_id": "DOID:0070654",
    "recommended_name": {
        "id": "DOID:0070654",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070654",
        "name": "desmosterolosis",
        "description": "A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32."
    },
    "synonyms": [
        {
            "id": "MONDO:0011217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011217",
            "name": "desmosterolosis",
            "description": "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol."
        },
        {
            "id": "MONDO:0011217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011217",
            "name": "desmosterolosis",
            "description": ""
        },
        {
            "id": "MIM:602398",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602398",
            "name": "Desmosterolosis",
            "description": "Desmosterolosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070654"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070654",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070654",
            "categories": []
        },
        {
            "id": "MONDO:0011217",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011217",
            "categories": []
        },
        {
            "id": "MIM:602398",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602398",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VCH6-1",
            "uniprot_ac": "Q8VCH6",
            "uniprot_id": "DHC24_MOUSE",
            "refseq_ac": "NP_444502",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta(24)-sterol reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.72",
                    "type": "synonym"
                },
                {
                    "name": "24-dehydrocholesterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysterol Delta-24-reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysterol delta-24-reductase",
                    "type": "synonym"
                },
                {
                    "name": "delta(24)-sterol reductase precursor",
                    "type": "synonym"
                },
                {
                    "name": "delta(24)-sterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "seladin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhcr24",
                    "type": "recommended"
                },
                {
                    "name": "2310076D10Rik",
                    "type": "synonym"
                },
                {
                    "name": "5830417J06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dhcr24",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0018",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0018",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCH6-1",
            "evidence": [
                {
                    "id": "0070654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15392-1",
            "uniprot_ac": "Q15392",
            "uniprot_id": "DHC24_HUMAN",
            "refseq_ac": "NP_055577",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta(24)-sterol reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.72",
                    "type": "synonym"
                },
                {
                    "name": "24-dehydrocholesterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "3 beta-hydroxysterol delta 24-reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysterol Delta-24-reductase",
                    "type": "synonym"
                },
                {
                    "name": "3beta-hydroxysterol delta24 reductase",
                    "type": "synonym"
                },
                {
                    "name": "Diminuto/dwarf1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Seladin-1",
                    "type": "synonym"
                },
                {
                    "name": "delta(24)-sterol reductase precursor",
                    "type": "synonym"
                },
                {
                    "name": "delta(24)-sterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "desmosterol-to-cholesterol enzyme",
                    "type": "synonym"
                },
                {
                    "name": "diminuto/dwarf1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "seladin 1",
                    "type": "synonym"
                },
                {
                    "name": "selective AD indicator 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHCR24",
                    "type": "recommended"
                },
                {
                    "name": "DCE",
                    "type": "synonym"
                },
                {
                    "name": "DHCR24",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0018",
                    "type": "synonym"
                },
                {
                    "name": "Nbla03646",
                    "type": "synonym"
                },
                {
                    "name": "SELADIN1",
                    "type": "synonym"
                },
                {
                    "name": "seladin-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15392-1",
            "evidence": [
                {
                    "id": "602398",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602398"
                },
                {
                    "id": "0070654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BQE6-1",
            "uniprot_ac": "Q5BQE6",
            "uniprot_id": "DHC24_RAT",
            "refseq_ac": "NP_001073617",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta(24)-sterol reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.72",
                    "type": "synonym"
                },
                {
                    "name": "24-dehydrocholesterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysterol Delta-24-reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysterol delta-24-reductase",
                    "type": "synonym"
                },
                {
                    "name": "delta(24)-sterol reductase precursor",
                    "type": "synonym"
                },
                {
                    "name": "delta(24)-sterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "seladin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhcr24",
                    "type": "recommended"
                },
                {
                    "name": "Dhcr24",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BQE6-1",
            "evidence": [
                {
                    "id": "0070654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41137-1",
            "uniprot_ac": "P41137",
            "uniprot_id": "ID2_RAT",
            "refseq_ac": "NP_037192",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein inhibitor ID-2",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein inhibitor ID-2",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of DNA binding 2",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of differentiation 2",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of DNA binding 2, HLH protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of DNA binding 2, dominant negative helix-loop-helix protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of differentiation 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Id2",
                    "type": "recommended"
                },
                {
                    "name": "Ac2-300",
                    "type": "synonym"
                },
                {
                    "name": "Id-2",
                    "type": "synonym"
                },
                {
                    "name": "Id2",
                    "type": "synonym"
                }
            ],
            "record_id": "P41137-1",
            "evidence": [
                {
                    "id": "0070654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070654"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070654"
}