{
    "disease_id": "DOID:0081396",
    "recommended_name": {
        "id": "DOID:0081396",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081396",
        "name": "neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome",
        "description": "A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33."
    },
    "synonyms": [
        {
            "id": "DOID:0081396",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081396",
            "name": "PHRINL syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032931",
            "name": "pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal",
            "description": ""
        },
        {
            "id": "MONDO:0032931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032931",
            "name": "fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032931",
            "name": "fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032931",
            "name": "PHRINL",
            "description": ""
        },
        {
            "id": "MIM:618810",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618810",
            "name": "Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal",
            "description": "Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081396"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081396",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081396",
            "categories": []
        },
        {
            "id": "MONDO:0032931",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032931",
            "categories": []
        },
        {
            "id": "MIM:618810",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618810",
            "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": "0081396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081396"
                }
            ]
        },
        {
            "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": "618810",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618810"
                },
                {
                    "id": "0081396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081396"
                }
            ]
        },
        {
            "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": "0081396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081396"
                }
            ]
        },
        {
            "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": "0081396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081396"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081396"
}