{
    "disease_id": "DOID:0070399",
    "recommended_name": {
        "id": "DOID:0070399",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070399",
        "name": "hypomyelinating leukodystrophy 18",
        "description": "A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0070399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070399",
            "name": "HLD18",
            "description": ""
        },
        {
            "id": "MONDO:0032730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032730",
            "name": "leukodystrophy, hypomyelinating, 18",
            "description": ""
        },
        {
            "id": "MONDO:0032730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032730",
            "name": "HLD18",
            "description": ""
        },
        {
            "id": "MIM:618404",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618404",
            "name": "Leukodystrophy, hypomyelinating, 18",
            "description": "Leukodystrophy, hypomyelinating, 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070399"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070399",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070399",
            "categories": []
        },
        {
            "id": "MONDO:0032730",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032730",
            "categories": []
        },
        {
            "id": "MIM:618404",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618404",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O09005-1",
            "uniprot_ac": "O09005",
            "uniprot_id": "DEGS1_MOUSE",
            "refseq_ac": "NP_031879",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingolipid delta(4)-desaturase DES1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.19.17",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Degenerative spermatocyte homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroceramide desaturase-1",
                    "type": "synonym"
                },
                {
                    "name": "Retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "degenerative spermatocyte homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dihydroceramide desaturase-1",
                    "type": "synonym"
                },
                {
                    "name": "dihydroceramide desaturase",
                    "type": "synonym"
                },
                {
                    "name": "retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid delta(4)-desaturase DES1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid delta(4)-desaturase DES1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Degs1",
                    "type": "recommended"
                },
                {
                    "name": "Degs1",
                    "type": "synonym"
                },
                {
                    "name": "Degs",
                    "type": "synonym"
                },
                {
                    "name": "Des1",
                    "type": "synonym"
                },
                {
                    "name": "Mdes",
                    "type": "synonym"
                }
            ],
            "record_id": "O09005-1",
            "evidence": [
                {
                    "id": "0070399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15121-1",
            "uniprot_ac": "O15121",
            "uniprot_id": "DEGS1_HUMAN",
            "refseq_ac": "NP_003667",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingolipid delta(4)-desaturase DES1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.19.17",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Cell migration-inducing gene 15 protein",
                    "type": "synonym"
                },
                {
                    "name": "Degenerative spermatocyte homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroceramide desaturase-1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane lipid desaturase",
                    "type": "synonym"
                },
                {
                    "name": "Retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "cell migration-inducing gene 15 protein",
                    "type": "synonym"
                },
                {
                    "name": "degenerative spermatocyte homolog 1, lipid desaturase",
                    "type": "synonym"
                },
                {
                    "name": "degenerative spermatocyte homolog, lipid desaturase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroceramide desaturase 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane fatty acid (lipid) desaturase",
                    "type": "synonym"
                },
                {
                    "name": "membrane lipid desaturase",
                    "type": "synonym"
                },
                {
                    "name": "migration-inducing gene 15 protein",
                    "type": "synonym"
                },
                {
                    "name": "retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid delta 4 desaturase",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid delta(4)-desaturase 1",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid delta(4)-desaturase DES1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DEGS1",
                    "type": "recommended"
                },
                {
                    "name": "DEGS-1",
                    "type": "synonym"
                },
                {
                    "name": "DEGS1",
                    "type": "synonym"
                },
                {
                    "name": "DEGS",
                    "type": "synonym"
                },
                {
                    "name": "DES1",
                    "type": "synonym"
                },
                {
                    "name": "Des-1",
                    "type": "synonym"
                },
                {
                    "name": "FADS7",
                    "type": "synonym"
                },
                {
                    "name": "HLD18",
                    "type": "synonym"
                },
                {
                    "name": "MIG15",
                    "type": "synonym"
                },
                {
                    "name": "MLD",
                    "type": "synonym"
                }
            ],
            "record_id": "O15121-1",
            "evidence": [
                {
                    "id": "618404",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618404"
                },
                {
                    "id": "0070399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R9Z4-1",
            "uniprot_ac": "M0R9Z4",
            "uniprot_id": "M0R9Z4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta(4)-desaturase, sphingolipid 1 like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Degs1l1",
                    "type": "recommended"
                },
                {
                    "name": "LOC498300",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R9Z4-1",
            "evidence": [
                {
                    "id": "0070399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXB2-1",
            "uniprot_ac": "D3ZXB2",
            "uniprot_id": "D3ZXB2_RAT",
            "refseq_ac": "NP_001417712",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingolipid delta(4)-desaturase DES1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.19.17",
                    "type": "synonym"
                },
                {
                    "name": "Degenerative spermatocyte homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroceramide desaturase-1",
                    "type": "synonym"
                },
                {
                    "name": "Retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid delta(4)-desaturase DES1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC289322",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Degs1l2",
                    "type": "recommended"
                },
                {
                    "name": "Degs1l2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564463",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZXB2-1",
            "evidence": [
                {
                    "id": "0070399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIF5-1",
            "uniprot_ac": "Q5XIF5",
            "uniprot_id": "DEGS1_RAT",
            "refseq_ac": "NP_445775",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingolipid delta(4)-desaturase DES1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.19.17",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Degenerative spermatocyte homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Degenerative spermatocyte-like protein RDES",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroceramide desaturase-1",
                    "type": "synonym"
                },
                {
                    "name": "Retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "degenerative spermatocyte homolog 1, lipid desaturase",
                    "type": "synonym"
                },
                {
                    "name": "degenerative spermatocyte-like protein RDES",
                    "type": "synonym"
                },
                {
                    "name": "dihydroceramide desaturase-1",
                    "type": "synonym"
                },
                {
                    "name": "retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid delta(4)-desaturase DES1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Degs1",
                    "type": "recommended"
                },
                {
                    "name": "Degs1",
                    "type": "synonym"
                },
                {
                    "name": "Degs",
                    "type": "synonym"
                },
                {
                    "name": "Des1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIF5-1",
            "evidence": [
                {
                    "id": "0070399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q94515-1",
            "uniprot_ac": "Q94515",
            "uniprot_id": "DEGS1_DROME",
            "refseq_ac": "NP_476594",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingolipid delta(4)-desaturase DES1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.19.17",
                    "type": "synonym"
                },
                {
                    "name": "CG9078-PA",
                    "type": "synonym"
                },
                {
                    "name": "DES-1",
                    "type": "synonym"
                },
                {
                    "name": "Degenerative spermatocyte homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroceramide desaturase-1",
                    "type": "synonym"
                },
                {
                    "name": "degenerating spermatocyte",
                    "type": "synonym"
                },
                {
                    "name": "degenerative spermatocyte",
                    "type": "synonym"
                },
                {
                    "name": "ifc-PA",
                    "type": "synonym"
                },
                {
                    "name": "infertile crescent, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "infertile crescent",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid delta 4 desaturase",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine Delta-4 desaturase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ifc",
                    "type": "recommended"
                },
                {
                    "name": "CG9078",
                    "type": "synonym"
                },
                {
                    "name": "DES-1",
                    "type": "synonym"
                },
                {
                    "name": "Des-1",
                    "type": "synonym"
                },
                {
                    "name": "Des1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9078",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9078",
                    "type": "synonym"
                },
                {
                    "name": "Ifc",
                    "type": "synonym"
                },
                {
                    "name": "des-1",
                    "type": "synonym"
                },
                {
                    "name": "des1",
                    "type": "synonym"
                },
                {
                    "name": "des",
                    "type": "synonym"
                },
                {
                    "name": "ifc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)26Ab",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gdh-2",
                    "type": "synonym"
                },
                {
                    "name": "ms(2)04875",
                    "type": "synonym"
                }
            ],
            "record_id": "Q94515-1",
            "evidence": [
                {
                    "id": "0070399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070399"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070399"
}