{
    "disease_id": "DOID:0110812",
    "recommended_name": {
        "id": "DOID:0110812",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110812",
        "name": "hereditary spastic paraplegia 61",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110812",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110812",
            "name": "SPG61",
            "description": ""
        },
        {
            "id": "DOID:0110812",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110812",
            "name": "autosomal recessive spastic paraplegia 61",
            "description": ""
        },
        {
            "id": "DOID:0110812",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110812",
            "name": "autosomal recessive spastic paraplegia type 61",
            "description": ""
        },
        {
            "id": "MONDO:0014304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014304",
            "name": "hereditary spastic paraplegia 61",
            "description": "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1."
        },
        {
            "id": "MONDO:0014304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014304",
            "name": "ARL6IP1 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014304",
            "name": "SPG61",
            "description": ""
        },
        {
            "id": "MONDO:0014304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014304",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1",
            "description": ""
        },
        {
            "id": "MONDO:0014304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014304",
            "name": "autosomal recessive spastic paraplegia type 61",
            "description": ""
        },
        {
            "id": "MONDO:0014304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014304",
            "name": "hereditary spastic paraplegia 61",
            "description": ""
        },
        {
            "id": "MONDO:0014304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014304",
            "name": "hereditary spastic paraplegia type 61",
            "description": ""
        },
        {
            "id": "MONDO:0014304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014304",
            "name": "spastic paraplegia 61, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615685",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615685",
            "name": "Spastic paraplegia 61, autosomal recessive",
            "description": "Spastic paraplegia 61, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110812"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110812",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110812",
            "categories": []
        },
        {
            "id": "MONDO:0014304",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014304",
            "categories": []
        },
        {
            "id": "MIM:615685",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615685",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JKW0-1",
            "uniprot_ac": "Q9JKW0",
            "uniprot_id": "AR6P1_MOUSE",
            "refseq_ac": "NP_062292",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 6-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 6-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation-like factor 6 interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "ARL-6-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Aip-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein TBX2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl6ip1",
                    "type": "recommended"
                },
                {
                    "name": "AIP-6",
                    "type": "synonym"
                },
                {
                    "name": "ARMER",
                    "type": "synonym"
                },
                {
                    "name": "Aip-1",
                    "type": "synonym"
                },
                {
                    "name": "Arl6ip1",
                    "type": "synonym"
                },
                {
                    "name": "Arl6ip",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0069",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKW0-1",
            "evidence": [
                {
                    "id": "0110812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15041-1",
            "uniprot_ac": "Q15041",
            "uniprot_id": "AR6P1_HUMAN",
            "refseq_ac": "NP_001300787",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 6-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ADP ribosylation factor like GTPase 6 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor GTPase 6 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like 6 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 6-interacting protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 6-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ARF like GTPase 6 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ARL-6-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Aip-1",
                    "type": "synonym"
                },
                {
                    "name": "Apoptotic regulator in the membrane of the endoplasmic reticulum",
                    "type": "synonym"
                },
                {
                    "name": "aip-1",
                    "type": "synonym"
                },
                {
                    "name": "apoptotic regulator in the membrane of the endoplasmic reticulum",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARL6IP1",
                    "type": "recommended"
                },
                {
                    "name": "AIP1",
                    "type": "synonym"
                },
                {
                    "name": "ARL6IP1",
                    "type": "synonym"
                },
                {
                    "name": "ARL6IP",
                    "type": "synonym"
                },
                {
                    "name": "ARMER",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0069",
                    "type": "synonym"
                },
                {
                    "name": "SPG61",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15041-1",
            "evidence": [
                {
                    "id": "615685",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615685"
                },
                {
                    "id": "0110812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TMZ5-1",
            "uniprot_ac": "Q7TMZ5",
            "uniprot_id": "Q7TMZ5_RAT",
            "refseq_ac": "NP_942032",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor like GTPase 6 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like 6 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 6-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation-like factor 6-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl6ip1",
                    "type": "recommended"
                },
                {
                    "name": "Arl6ip1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TMZ5-1",
            "evidence": [
                {
                    "id": "0110812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VES1-1",
            "uniprot_ac": "Q9VES1",
            "uniprot_id": "AR6P1_DROME",
            "refseq_ac": "NP_001262647",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 6-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor-like 6 interacting protein 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Arl6IP1-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG10326-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl6IP1",
                    "type": "recommended"
                },
                {
                    "name": "ARL6IP1",
                    "type": "synonym"
                },
                {
                    "name": "Al6IP1",
                    "type": "synonym"
                },
                {
                    "name": "Arl6IP1",
                    "type": "synonym"
                },
                {
                    "name": "CG10326",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10326",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10326",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VES1-1",
            "evidence": [
                {
                    "id": "0110812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110812"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110812"
}