{
    "disease_id": "DOID:0060304",
    "recommended_name": {
        "id": "DOID:0060304",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060304",
        "name": "dyschromatosis universalis hereditaria",
        "description": "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution."
    },
    "synonyms": [
        {
            "id": "MONDO:0012993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012993",
            "name": "dyschromatosis universalis hereditaria 2",
            "description": ""
        },
        {
            "id": "MONDO:0012993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012993",
            "name": "dyschromatosis universalis hereditaria 2",
            "description": ""
        },
        {
            "id": "MONDO:0012993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012993",
            "name": "DUH2",
            "description": ""
        },
        {
            "id": "MONDO:0014169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014169",
            "name": "dyschromatosis universalis hereditaria 3",
            "description": "Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene."
        },
        {
            "id": "MONDO:0014169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014169",
            "name": "ABCB6 dyschromatosis universalis hereditaria",
            "description": ""
        },
        {
            "id": "MONDO:0014169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014169",
            "name": "dyschromatosis universalis hereditaria 3",
            "description": ""
        },
        {
            "id": "MONDO:0014169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014169",
            "name": "dyschromatosis universalis hereditaria caused by mutation in ABCB6",
            "description": ""
        },
        {
            "id": "MONDO:0014169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014169",
            "name": "dyschromatosis universalis hereditaria type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014169",
            "name": "DUH3",
            "description": ""
        },
        {
            "id": "MONDO:0024524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024524",
            "name": "dyschromatosis universalis hereditaria 1",
            "description": ""
        },
        {
            "id": "MONDO:0024524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024524",
            "name": "DUH1",
            "description": ""
        },
        {
            "id": "MONDO:0024524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024524",
            "name": "dyschromatosis universalis hereditaria 1",
            "description": ""
        },
        {
            "id": "MIM:615402",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615402",
            "name": "Dyschromatosis universalis hereditaria 3",
            "description": "Dyschromatosis universalis hereditaria 3"
        },
        {
            "id": "MIM:127500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/127500",
            "name": "Dyschromatosis universalis hereditaria 1",
            "description": "Dyschromatosis universalis hereditaria 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060304"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060304",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060304",
            "categories": []
        },
        {
            "id": "MONDO:0012993",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012993",
            "categories": []
        },
        {
            "id": "MONDO:0014169",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014169",
            "categories": []
        },
        {
            "id": "MONDO:0024524",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024524",
            "categories": []
        },
        {
            "id": "MIM:615402",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615402",
            "categories": []
        },
        {
            "id": "MIM:127500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/127500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BF06-1",
            "uniprot_ac": "A0A8M2BF06",
            "uniprot_id": "A0A8M2BF06_DANRE",
            "refseq_ac": "XP_005167575",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family B member 6",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.5",
                    "type": "synonym"
                },
                {
                    "name": "ABC-type heme transporter ABCB6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcb6b",
                    "type": "recommended"
                },
                {
                    "name": "abcb6b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BF06-1",
            "evidence": [
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QCK2-1",
            "uniprot_ac": "F1QCK2",
            "uniprot_id": "F1QCK2_DANRE",
            "refseq_ac": "XP_005160347",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family B member 6",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.5",
                    "type": "synonym"
                },
                {
                    "name": "ABC-type heme transporter ABCB6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcb6a",
                    "type": "recommended"
                },
                {
                    "name": "abcb6a",
                    "type": "synonym"
                },
                {
                    "name": "abcb6",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QCK2-1",
            "evidence": [
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58I375-1",
            "uniprot_ac": "A0AC58I375",
            "uniprot_id": "A0AC58I375_DANRE",
            "refseq_ac": "NP_001429142",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterile alpha motif domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "SAM and SH3 domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "SAM and SH3 domain-containing protein 1a isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sash1a",
                    "type": "recommended"
                },
                {
                    "name": "fi33a01",
                    "type": "synonym"
                },
                {
                    "name": "ik:tdsubc_2e1",
                    "type": "synonym"
                },
                {
                    "name": "sash1a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-264g21.1",
                    "type": "synonym"
                },
                {
                    "name": "tdsubc_2e1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi33a01",
                    "type": "synonym"
                },
                {
                    "name": "xx:tdsubc_2e1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I375-1",
            "evidence": [
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DC29-1",
            "uniprot_ac": "Q9DC29",
            "uniprot_id": "ABCB6_MOUSE",
            "refseq_ac": "NP_076221",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family B member 6",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.5",
                    "type": "synonym"
                },
                {
                    "name": "ABC-type heme transporter ABCB6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 6, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcb6",
                    "type": "recommended"
                },
                {
                    "name": "1200005B17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Abcb6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DC29-1",
            "evidence": [
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59808-1",
            "uniprot_ac": "P59808",
            "uniprot_id": "SASH1_MOUSE",
            "refseq_ac": "NP_780364",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SAM and SH3 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "SAM and SH3 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "putative adapter and scaffold protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sash1",
                    "type": "recommended"
                },
                {
                    "name": "1100001C18Rik",
                    "type": "synonym"
                },
                {
                    "name": "2500002E12Rik",
                    "type": "synonym"
                },
                {
                    "name": "A330076K04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sash1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0790",
                    "type": "synonym"
                }
            ],
            "record_id": "P59808-1",
            "evidence": [
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NP58-1",
            "uniprot_ac": "Q9NP58",
            "uniprot_id": "ABCB6_HUMAN",
            "refseq_ac": "NP_005680",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family B member 6",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.5",
                    "type": "synonym"
                },
                {
                    "name": "ABC-type heme transporter ABCB6",
                    "type": "synonym"
                },
                {
                    "name": "ATP binding cassette subfamily B member 6 (Langereis blood group)",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette half-transporter",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ABC transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "Mt-ABC transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "P-glycoprotein-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitously-expressed mammalian ABC half transporter",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ABC transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "mt-ABC transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously-expressed mammalian ABC half transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCB6",
                    "type": "recommended"
                },
                {
                    "name": "ABCB6",
                    "type": "synonym"
                },
                {
                    "name": "ABC",
                    "type": "synonym"
                },
                {
                    "name": "LAN",
                    "type": "synonym"
                },
                {
                    "name": "MTABC3",
                    "type": "synonym"
                },
                {
                    "name": "PRP",
                    "type": "synonym"
                },
                {
                    "name": "UMAT",
                    "type": "synonym"
                },
                {
                    "name": "umat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NP58-1",
            "evidence": [
                {
                    "id": "615402",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615402"
                },
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94885-1",
            "uniprot_ac": "O94885",
            "uniprot_id": "SASH1_HUMAN",
            "refseq_ac": "NP_056093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SAM and SH3 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Proline-glutamate repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "SAM and SH3 domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SAM and SH3 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "proline-glutamate repeat-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SASH1",
                    "type": "recommended"
                },
                {
                    "name": "CAPOK",
                    "type": "synonym"
                },
                {
                    "name": "DUH1",
                    "type": "synonym"
                },
                {
                    "name": "DUH",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0790",
                    "type": "synonym"
                },
                {
                    "name": "PEPE1",
                    "type": "synonym"
                },
                {
                    "name": "SASH1",
                    "type": "synonym"
                },
                {
                    "name": "SH3D6A",
                    "type": "synonym"
                },
                {
                    "name": "dJ323M4.1",
                    "type": "synonym"
                }
            ],
            "record_id": "O94885-1",
            "evidence": [
                {
                    "id": "127500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/127500"
                },
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70595-1",
            "uniprot_ac": "O70595",
            "uniprot_id": "ABCB6_RAT",
            "refseq_ac": "NP_542149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
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                    "name": "ATP-binding cassette sub-family B member 6",
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                },
                {
                    "name": "7.6.2.5",
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                },
                {
                    "name": "ABC-type heme transporter ABCB6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 6, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily B (MDR/TAP), member 6",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitously-expressed mammalian ABC half transporter",
                    "type": "synonym"
                },
                {
                    "name": "mammalian mitochondrial ABC protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously-expressed mammalian ABC half transporter",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Abcb6",
                    "type": "recommended"
                },
                {
                    "name": "Abcb6",
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                },
                {
                    "name": "MTABC3",
                    "type": "synonym"
                },
                {
                    "name": "Umat",
                    "type": "synonym"
                }
            ],
            "record_id": "O70595-1",
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                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GLI1-1",
            "uniprot_ac": "A0A8I6GLI1",
            "uniprot_id": "A0A8I6GLI1_RAT",
            "refseq_ac": "XP_038957407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SAM and SH3 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "SAM and SH3 domain-containing protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sash1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1566017",
                    "type": "synonym"
                },
                {
                    "name": "Sash1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GLI1-1",
            "evidence": [
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF20-1",
            "uniprot_ac": "Q9VF20",
            "uniprot_id": "Q9VF20_DROME",
            "refseq_ac": "NP_650503",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family B member 6",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.5",
                    "type": "synonym"
                },
                {
                    "name": "ABC-type heme transporter ABCB6",
                    "type": "synonym"
                },
                {
                    "name": "CG4225-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hmt-1-PA",
                    "type": "synonym"
                },
                {
                    "name": "heavy metal tolerance factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmt-1",
                    "type": "recommended"
                },
                {
                    "name": "ABCB6",
                    "type": "synonym"
                },
                {
                    "name": "CG4225",
                    "type": "synonym"
                },
                {
                    "name": "DmCG4225",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4225",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4225",
                    "type": "synonym"
                },
                {
                    "name": "EP(3)3387",
                    "type": "synonym"
                },
                {
                    "name": "HMT-1",
                    "type": "synonym"
                },
                {
                    "name": "Hmt-1",
                    "type": "synonym"
                },
                {
                    "name": "hmt-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF20-1",
            "evidence": [
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KHV7-1",
            "uniprot_ac": "A0A0B4KHV7",
            "uniprot_id": "A0A0B4KHV7_DROME",
            "refseq_ac": "NP_001262827",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterile alpha motif domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "CG31163-PI",
                    "type": "synonym"
                },
                {
                    "name": "SKIP-PI",
                    "type": "synonym"
                },
                {
                    "name": "shal K[+] channel interacting protein, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "shal K[+] channel interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "skal K[+] channel interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SKIP",
                    "type": "recommended"
                },
                {
                    "name": "CG13863",
                    "type": "synonym"
                },
                {
                    "name": "CG13864",
                    "type": "synonym"
                },
                {
                    "name": "CG31163",
                    "type": "synonym"
                },
                {
                    "name": "CG5736",
                    "type": "synonym"
                },
                {
                    "name": "CG7086",
                    "type": "synonym"
                },
                {
                    "name": "CG7087",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31163",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31163",
                    "type": "synonym"
                },
                {
                    "name": "SKIP",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KHV7-1",
            "evidence": [
                {
                    "id": "0060304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060304"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060304"
}