{
    "disease_id": "DOID:0070406",
    "recommended_name": {
        "id": "DOID:0070406",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070406",
        "name": "hypomyelinating leukodystrophy 24",
        "description": "A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34."
    },
    "synonyms": [
        {
            "id": "DOID:0070406",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070406",
            "name": "HLD24",
            "description": ""
        },
        {
            "id": "MONDO:0859242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859242",
            "name": "leukodystrophy, hypomyelinating, 24",
            "description": ""
        },
        {
            "id": "MIM:619851",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619851",
            "name": "Leukodystrophy, hypomyelinating, 24",
            "description": "Leukodystrophy, hypomyelinating, 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070406"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070406",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070406",
            "categories": []
        },
        {
            "id": "MONDO:0859242",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859242",
            "categories": []
        },
        {
            "id": "MIM:619851",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619851",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q0D3-1",
            "uniprot_ac": "A0A8M9Q0D3",
            "uniprot_id": "A0A8M9Q0D3_DANRE",
            "refseq_ac": "XP_021332758",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IH isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp11a",
                    "type": "recommended"
                },
                {
                    "name": "atp11a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q0D3-1",
            "evidence": [
                {
                    "id": "0070406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98197-1",
            "uniprot_ac": "P98197",
            "uniprot_id": "AT11A_MOUSE",
            "refseq_ac": "NP_056619",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase IH",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "9130422H11Rik",
                    "type": "synonym"
                },
                {
                    "name": "ATPase 11A, class VI",
                    "type": "synonym"
                },
                {
                    "name": "ATPase 11A, p type",
                    "type": "synonym"
                },
                {
                    "name": "ATPase IS",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class VI type 11A",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class 1, member h",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase flippase complex alpha subunit ATP11A",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IH isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp11a",
                    "type": "recommended"
                },
                {
                    "name": "4930558F19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atp11a",
                    "type": "synonym"
                },
                {
                    "name": "Atpc1h",
                    "type": "synonym"
                },
                {
                    "name": "Ih",
                    "type": "synonym"
                }
            ],
            "record_id": "P98197-1",
            "evidence": [
                {
                    "id": "0070406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98196-1",
            "uniprot_ac": "P98196",
            "uniprot_id": "AT11A_HUMAN",
            "refseq_ac": "NP_056020",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase IH",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase IS",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class VI type 11A",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class VI, type 11A",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase flippase complex alpha subunit ATP11A",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-translocating ATPase",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IH isoform a",
                    "type": "synonym"
                },
                {
                    "name": "potential phospholipid-transporting ATPase IH",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP11A",
                    "type": "recommended"
                },
                {
                    "name": "ATP11A",
                    "type": "synonym"
                },
                {
                    "name": "ATPIH",
                    "type": "synonym"
                },
                {
                    "name": "ATPIS",
                    "type": "synonym"
                },
                {
                    "name": "AUNA2",
                    "type": "synonym"
                },
                {
                    "name": "DFNA84",
                    "type": "synonym"
                },
                {
                    "name": "HLD24",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1021",
                    "type": "synonym"
                }
            ],
            "record_id": "P98196-1",
            "evidence": [
                {
                    "id": "619851",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619851"
                },
                {
                    "id": "0070406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12674-1",
            "uniprot_ac": "Q12674",
            "uniprot_id": "ATC8_YEAST",
            "refseq_ac": "NP_013885",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable phospholipid-transporting ATPase DNF3",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "APT",
                    "type": "synonym"
                },
                {
                    "name": "Aminophospholipid translocase",
                    "type": "synonym"
                },
                {
                    "name": "PLT",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipid translocase",
                    "type": "synonym"
                },
                {
                    "name": "aminophospholipid-translocating P4-type ATPase DNF3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNF3",
                    "type": "recommended"
                },
                {
                    "name": "DNF3",
                    "type": "synonym"
                },
                {
                    "name": "YM8520.11C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12674-1",
            "evidence": [
                {
                    "id": "0070406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7K5-1",
            "uniprot_ac": "D4A7K5",
            "uniprot_id": "D4A7K5_RAT",
            "refseq_ac": "NP_001100794",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class VI, type 11A",
                    "type": "synonym"
                },
                {
                    "name": "UA20 protein-like",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IH isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp11a",
                    "type": "recommended"
                },
                {
                    "name": "Atp11a",
                    "type": "synonym"
                },
                {
                    "name": "Ua20",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7K5-1",
            "evidence": [
                {
                    "id": "0070406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXG6-1",
            "uniprot_ac": "Q9VXG6",
            "uniprot_id": "Q9VXG6_DROME",
            "refseq_ac": "NP_573125",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "CG4301-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4301",
                    "type": "recommended"
                },
                {
                    "name": "CG4301",
                    "type": "synonym"
                },
                {
                    "name": "DmCG4301",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4301",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4301",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXG6-1",
            "evidence": [
                {
                    "id": "0070406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXG7-1",
            "uniprot_ac": "Q9VXG7",
            "uniprot_id": "Q9VXG7_DROME",
            "refseq_ac": "NP_001259610",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "CG9981-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DmCG9981",
                    "type": "recommended"
                },
                {
                    "name": "CG9981",
                    "type": "synonym"
                },
                {
                    "name": "DmCG9981",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9981",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9981",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXG7-1",
            "evidence": [
                {
                    "id": "0070406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070406"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070406"
}