{
    "disease_id": "DOID:0081395",
    "recommended_name": {
        "id": "DOID:0081395",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081395",
        "name": "Harel-Yoon syndrome",
        "description": "A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0081395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081395",
            "name": "Ocular anomalies-axonal neuropathy-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "Harel-Yoon syndrome",
            "description": "A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy."
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "HAYOS",
            "description": ""
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "Harel-Yoon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "Harel-Yoon syndrome; HAYOS",
            "description": ""
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "optic atrophy-peripheral neuropathy-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MIM:617183",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617183",
            "name": "Harel-Yoon syndrome",
            "description": "Harel-Yoon syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081395"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081395",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081395",
            "categories": []
        },
        {
            "id": "MONDO:0014958",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "categories": []
        },
        {
            "id": "MIM:617183",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617183",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q925I1-1",
            "uniprot_ac": "Q925I1",
            "uniprot_id": "ATD3A_MOUSE",
            "refseq_ac": "NP_849534",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase family AAA domain-containing protein 3A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "AAA-ATPase TOB3",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 3A",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atad3a",
                    "type": "recommended"
                },
                {
                    "name": "2400004H09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atad3a",
                    "type": "synonym"
                },
                {
                    "name": "Atad3",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1273",
                    "type": "synonym"
                },
                {
                    "name": "Tob3",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1273",
                    "type": "synonym"
                }
            ],
            "record_id": "Q925I1-1",
            "evidence": [
                {
                    "id": "0081395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVI7-2",
            "uniprot_ac": "Q9NVI7",
            "uniprot_id": "ATD3A_HUMAN",
            "refseq_ac": "NP_001164006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase family AAA domain-containing protein 3A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 3A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 3A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATAD3A",
                    "type": "recommended"
                },
                {
                    "name": "ATAD3A",
                    "type": "synonym"
                },
                {
                    "name": "HAYOS",
                    "type": "synonym"
                },
                {
                    "name": "PHRINL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVI7-2",
            "evidence": [
                {
                    "id": "617183",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617183"
                },
                {
                    "id": "0081395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3KRE0-1",
            "uniprot_ac": "Q3KRE0",
            "uniprot_id": "ATD3A_RAT",
            "refseq_ac": "NP_001030094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase family AAA domain-containing protein 3A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 3A",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atad3a",
                    "type": "recommended"
                },
                {
                    "name": "Atad3a",
                    "type": "synonym"
                },
                {
                    "name": "Atad3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3KRE0-1",
            "evidence": [
                {
                    "id": "0081395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEX6-1",
            "uniprot_ac": "Q9VEX6",
            "uniprot_id": "ATD3A_DROME",
            "refseq_ac": "NP_001247135",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase family AAA domain-containing protein 3A homolog",
                    "type": "recommended"
                },
                {
                    "name": "Belphegor protein",
                    "type": "synonym"
                },
                {
                    "name": "CG6815-PB",
                    "type": "synonym"
                },
                {
                    "name": "belphegor, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "belphegor",
                    "type": "synonym"
                },
                {
                    "name": "bor-PB",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic protein 89BC",
                    "type": "synonym"
                },
                {
                    "name": "denuded",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bor",
                    "type": "recommended"
                },
                {
                    "name": "ATAD3A",
                    "type": "synonym"
                },
                {
                    "name": "Bor",
                    "type": "synonym"
                },
                {
                    "name": "CG6815",
                    "type": "synonym"
                },
                {
                    "name": "CP89BC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6815",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6815",
                    "type": "synonym"
                },
                {
                    "name": "bor",
                    "type": "synonym"
                },
                {
                    "name": "dATAD3A",
                    "type": "synonym"
                },
                {
                    "name": "dAtad3a",
                    "type": "synonym"
                },
                {
                    "name": "denuded",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEX6-1",
            "evidence": [
                {
                    "id": "0081395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T2N8-1",
            "uniprot_ac": "Q5T2N8",
            "uniprot_id": "ATD3C_HUMAN",
            "refseq_ac": "NP_001034300",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase family AAA domain-containing protein 3C",
                    "type": "recommended"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 3C",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family, AAA domain containing 3A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATAD3C",
                    "type": "recommended"
                },
                {
                    "name": "ATAD3C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T2N8-1",
            "evidence": [
                {
                    "id": "0081395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T9A4-1",
            "uniprot_ac": "Q5T9A4",
            "uniprot_id": "ATD3B_HUMAN",
            "refseq_ac": "NP_001304167",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase family AAA domain-containing protein 3B",
                    "type": "recommended"
                },
                {
                    "name": "AAA-ATPase TOB3",
                    "type": "synonym"
                },
                {
                    "name": "AAA-TOB3",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 3B isoform AAA-TOB3s precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 3B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATAD3B",
                    "type": "recommended"
                },
                {
                    "name": "AAA-TOB3",
                    "type": "synonym"
                },
                {
                    "name": "ATAD3B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1273",
                    "type": "synonym"
                },
                {
                    "name": "TOB3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T9A4-1",
            "evidence": [
                {
                    "id": "0081395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081395"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081395"
}