{
    "disease_id": "DOID:0050943",
    "recommended_name": {
        "id": "DOID:0050943",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050943",
        "name": "spastic ataxia 4",
        "description": "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "spastic ataxia 4",
            "description": "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene."
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "MTPAP autosomal recessive spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "SPAX4",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "autosomal recessive spastic ataxia caused by mutation in MTPAP",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "autosomal recessive spastic ataxia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "spastic ataxia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "autosomal recessive spastic ataxia - optic atrophy - dysarthria",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "autosomal recessive spastic ataxia 4",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "spastic ataxia 4, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:613672",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613672",
            "name": "Spastic ataxia 4, autosomal recessive",
            "description": "Spastic ataxia 4, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050943"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050943",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050943",
            "categories": []
        },
        {
            "id": "MONDO:0013354",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "categories": []
        },
        {
            "id": "MIM:613672",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613672",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB40E6A7-1",
            "uniprot_ac": "A0AB40E6A7",
            "uniprot_id": "A0AB40E6A7_DANRE",
            "refseq_ac": "XP_021335997",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(A) RNA polymerase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "poly(A) RNA polymerase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtpap",
                    "type": "recommended"
                },
                {
                    "name": "mtpap",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB40E6A7-1",
            "evidence": [
                {
                    "id": "0050943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050943"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D0D3-1",
            "uniprot_ac": "Q9D0D3",
            "uniprot_id": "PAPD1_MOUSE",
            "refseq_ac": "NP_080433",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(A) RNA polymerase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.19",
                    "type": "synonym"
                },
                {
                    "name": "PAP associated domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "PAP-associated domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PAP",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "poly(A) RNA polymerase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "poly(A) RNA polymerase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide adenylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtpap",
                    "type": "recommended"
                },
                {
                    "name": "0610027A18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mtpap",
                    "type": "synonym"
                },
                {
                    "name": "Papd1",
                    "type": "synonym"
                },
                {
                    "name": "Tent6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0D3-1",
            "evidence": [
                {
                    "id": "0050943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050943"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVV4-1",
            "uniprot_ac": "Q9NVV4",
            "uniprot_id": "PAPD1_HUMAN",
            "refseq_ac": "NP_060579",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(A) RNA polymerase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.19",
                    "type": "synonym"
                },
                {
                    "name": "PAP-associated domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PAP",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TUTase 1",
                    "type": "synonym"
                },
                {
                    "name": "Terminal uridylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "mtPAP",
                    "type": "synonym"
                },
                {
                    "name": "poly(A) RNA polymerase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "terminal uridylyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTPAP",
                    "type": "recommended"
                },
                {
                    "name": "MTPAP",
                    "type": "synonym"
                },
                {
                    "name": "PAPD1",
                    "type": "synonym"
                },
                {
                    "name": "SPAX4",
                    "type": "synonym"
                },
                {
                    "name": "TENT6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVV4-1",
            "evidence": [
                {
                    "id": "613672",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613672"
                },
                {
                    "id": "0050943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050943"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZPN5-1",
            "uniprot_ac": "D3ZPN5",
            "uniprot_id": "D3ZPN5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial poly(A) polymerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtpap",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZPN5-1",
            "evidence": [
                {
                    "id": "0050943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050943"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46102-1",
            "uniprot_ac": "O46102",
            "uniprot_id": "PAPD1_DROME",
            "refseq_ac": "NP_001259129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(A) RNA polymerase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.19",
                    "type": "synonym"
                },
                {
                    "name": "3' terminal uridylyl transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "CG11418-PC",
                    "type": "synonym"
                },
                {
                    "name": "DmMTPAP",
                    "type": "synonym"
                },
                {
                    "name": "MTPAP-PC",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial poly(A) polymerase, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTPAP",
                    "type": "recommended"
                },
                {
                    "name": "CG11418",
                    "type": "synonym"
                },
                {
                    "name": "DmMTPAP",
                    "type": "synonym"
                },
                {
                    "name": "DmNP_569904",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11418",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11418",
                    "type": "synonym"
                },
                {
                    "name": "EG:8D8.8",
                    "type": "synonym"
                },
                {
                    "name": "MTPAP",
                    "type": "synonym"
                },
                {
                    "name": "SD27341p",
                    "type": "synonym"
                },
                {
                    "name": "TUTase1",
                    "type": "synonym"
                },
                {
                    "name": "dmmtpap",
                    "type": "synonym"
                }
            ],
            "record_id": "O46102-1",
            "evidence": [
                {
                    "id": "0050943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050943"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050943"
}