{
    "disease_id": "DOID:0080581",
    "recommended_name": {
        "id": "DOID:0080581",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080581",
        "name": "hyperekplexia 4",
        "description": "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0044330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044330",
            "name": "hyperekplexia 4",
            "description": "Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400)."
        },
        {
            "id": "MONDO:0044330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044330",
            "name": "hyperekplexia 4",
            "description": ""
        },
        {
            "id": "MONDO:0044330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044330",
            "name": "HKPX4",
            "description": ""
        },
        {
            "id": "MIM:618011",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618011",
            "name": "Hyperekplexia 4",
            "description": "Hyperekplexia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080581"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080581",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080581",
            "categories": []
        },
        {
            "id": "MONDO:0044330",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044330",
            "categories": []
        },
        {
            "id": "MIM:618011",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618011",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q503W7-1",
            "uniprot_ac": "Q503W7",
            "uniprot_id": "ATD1B_DANRE",
            "refseq_ac": "NP_001019592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer mitochondrial transmembrane helix translocase",
                    "type": "recommended"
                },
                {
                    "name": "7.4.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 1-B",
                    "type": "synonym"
                },
                {
                    "name": "outer mitochondrial transmembrane helix translocase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atad1b",
                    "type": "recommended"
                },
                {
                    "name": "atad1b",
                    "type": "synonym"
                },
                {
                    "name": "atad1",
                    "type": "synonym"
                },
                {
                    "name": "bZ1G13.1",
                    "type": "synonym"
                },
                {
                    "name": "si:bz1g13.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc15a10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110042",
                    "type": "synonym"
                }
            ],
            "record_id": "Q503W7-1",
            "evidence": [
                {
                    "id": "0080581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7ZZ25-1",
            "uniprot_ac": "Q7ZZ25",
            "uniprot_id": "ATD1A_DANRE",
            "refseq_ac": "NP_001004640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer mitochondrial transmembrane helix translocase",
                    "type": "recommended"
                },
                {
                    "name": "7.4.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 1-A",
                    "type": "synonym"
                },
                {
                    "name": "outer mitochondrial transmembrane helix translocase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atad1a",
                    "type": "recommended"
                },
                {
                    "name": "ATPase",
                    "type": "synonym"
                },
                {
                    "name": "atad1a",
                    "type": "synonym"
                },
                {
                    "name": "si:zc156n3.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101570",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZZ25-1",
            "evidence": [
                {
                    "id": "0080581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D5T0-1",
            "uniprot_ac": "Q9D5T0",
            "uniprot_id": "ATAD1_MOUSE",
            "refseq_ac": "NP_080763",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer mitochondrial transmembrane helix translocase",
                    "type": "recommended"
                },
                {
                    "name": "7.4.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Thorase",
                    "type": "synonym"
                },
                {
                    "name": "outer mitochondrial transmembrane helix translocase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atad1",
                    "type": "recommended"
                },
                {
                    "name": "4921525H23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atad1",
                    "type": "synonym"
                },
                {
                    "name": "Thorase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D5T0-1",
            "evidence": [
                {
                    "id": "0080581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NBU5-1",
            "uniprot_ac": "Q8NBU5",
            "uniprot_id": "ATAD1_HUMAN",
            "refseq_ac": "NP_001308896",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer mitochondrial transmembrane helix translocase",
                    "type": "recommended"
                },
                {
                    "name": "7.4.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Thorase",
                    "type": "synonym"
                },
                {
                    "name": "hATAD1",
                    "type": "synonym"
                },
                {
                    "name": "outer mitochondrial transmembrane helix translocase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "outer mitochondrial transmembrane helix translocase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATAD1",
                    "type": "recommended"
                },
                {
                    "name": "AFDC1",
                    "type": "synonym"
                },
                {
                    "name": "ATAD1",
                    "type": "synonym"
                },
                {
                    "name": "FNP001",
                    "type": "synonym"
                },
                {
                    "name": "HKPX4",
                    "type": "synonym"
                },
                {
                    "name": "Msp1",
                    "type": "synonym"
                },
                {
                    "name": "THORASE",
                    "type": "synonym"
                },
                {
                    "name": "hATAD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NBU5-1",
            "evidence": [
                {
                    "id": "618011",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618011"
                },
                {
                    "id": "0080581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28737-1",
            "uniprot_ac": "P28737",
            "uniprot_id": "MSP1_YEAST",
            "refseq_ac": "NP_011542",
            "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": "Outer mitochondrial transmembrane helix translocase",
                    "type": "recommended"
                },
                {
                    "name": "7.4.2.-",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial sorting of proteins",
                    "type": "synonym"
                },
                {
                    "name": "Tat-binding homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "protein-degrading AAA family ATPase MSP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSP1",
                    "type": "recommended"
                },
                {
                    "name": "MSP1",
                    "type": "synonym"
                },
                {
                    "name": "YTA4",
                    "type": "synonym"
                }
            ],
            "record_id": "P28737-1",
            "evidence": [
                {
                    "id": "0080581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q505J9-1",
            "uniprot_ac": "Q505J9",
            "uniprot_id": "ATAD1_RAT",
            "refseq_ac": "NP_001030174",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer mitochondrial transmembrane helix translocase",
                    "type": "recommended"
                },
                {
                    "name": "7.4.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family AAA domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuroprotective protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Thorase",
                    "type": "synonym"
                },
                {
                    "name": "neuroprotective protein 6",
                    "type": "synonym"
                },
                {
                    "name": "outer mitochondrial transmembrane helix translocase",
                    "type": "synonym"
                },
                {
                    "name": "thorase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atad1",
                    "type": "recommended"
                },
                {
                    "name": "Ab2-088",
                    "type": "synonym"
                },
                {
                    "name": "Atad1",
                    "type": "synonym"
                },
                {
                    "name": "Npg6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q505J9-1",
            "evidence": [
                {
                    "id": "0080581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3Q1-1",
            "uniprot_ac": "Q9V3Q1",
            "uniprot_id": "Q9V3Q1_DROME",
            "refseq_ac": "NP_609721",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AAA+ ATPase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4701-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DmDM19DC4Z",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS06874.3",
                    "type": "synonym"
                },
                {
                    "name": "CG4701",
                    "type": "synonym"
                },
                {
                    "name": "DmDM19DC4Z",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4701",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3Q1-1",
            "evidence": [
                {
                    "id": "0080581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL02-1",
            "uniprot_ac": "Q9VL02",
            "uniprot_id": "Q9VL02_DROME",
            "refseq_ac": "NP_001285801",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5395-PC",
                    "type": "synonym"
                },
                {
                    "name": "No mitochondrial derivative, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "No mitochondrial derivative, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial sorting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nmd-PC",
                    "type": "synonym"
                },
                {
                    "name": "no mitochondrial derivative, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nmd",
                    "type": "recommended"
                },
                {
                    "name": "CG5395",
                    "type": "synonym"
                },
                {
                    "name": "DmCG5395",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5395",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5395",
                    "type": "synonym"
                },
                {
                    "name": "Msp1",
                    "type": "synonym"
                },
                {
                    "name": "Msp",
                    "type": "synonym"
                },
                {
                    "name": "Nmd",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.79",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.79",
                    "type": "synonym"
                },
                {
                    "name": "l(2)08774",
                    "type": "synonym"
                },
                {
                    "name": "ms(2)4",
                    "type": "synonym"
                },
                {
                    "name": "ms(2)ry4",
                    "type": "synonym"
                },
                {
                    "name": "nmd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL02-1",
            "evidence": [
                {
                    "id": "0080581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080581"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080581"
}