{
    "disease_id": "DOID:0070644",
    "recommended_name": {
        "id": "DOID:0070644",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070644",
        "name": "hereditary spastic paraplegia 92",
        "description": "A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070644",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070644",
            "name": "SPG92",
            "description": ""
        },
        {
            "id": "DOID:0070644",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070644",
            "name": "autosomal recessive spastic paraplegia 92",
            "description": ""
        },
        {
            "id": "MONDO:0975746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975746",
            "name": "spastic paraplegia 92, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620911",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620911",
            "name": "Spastic paraplegia 92, autosomal recessive",
            "description": "Spastic paraplegia 92, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070644"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070644",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070644",
            "categories": []
        },
        {
            "id": "MONDO:0975746",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975746",
            "categories": []
        },
        {
            "id": "MIM:620911",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620911",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6ZM51-1",
            "uniprot_ac": "Q6ZM51",
            "uniprot_id": "FICD_DANRE",
            "refseq_ac": "NP_001017794",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein adenylyltransferase FICD",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.108",
                    "type": "synonym"
                },
                {
                    "name": "AMPylator FICD",
                    "type": "synonym"
                },
                {
                    "name": "FIC domain containing",
                    "type": "synonym"
                },
                {
                    "name": "FIC domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin interacting protein E",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate-protein transferase FICD",
                    "type": "synonym"
                },
                {
                    "name": "protein adenylyltransferase FICD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ficd",
                    "type": "recommended"
                },
                {
                    "name": "ficd",
                    "type": "synonym"
                },
                {
                    "name": "fk44h08",
                    "type": "synonym"
                },
                {
                    "name": "hype",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-191d15.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk44h08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110336",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZM51-1",
            "evidence": [
                {
                    "id": "0070644",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070644"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BIX9-1",
            "uniprot_ac": "Q8BIX9",
            "uniprot_id": "FICD_MOUSE",
            "refseq_ac": "NP_001010825",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein adenylyltransferase FICD",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.108",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "AMPylator FICD",
                    "type": "synonym"
                },
                {
                    "name": "De-AMPylase FICD",
                    "type": "synonym"
                },
                {
                    "name": "FIC domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate-protein transferase FICD",
                    "type": "synonym"
                },
                {
                    "name": "de-AMPylase FICD",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin interacting protein E",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin interactor protein E",
                    "type": "synonym"
                },
                {
                    "name": "protein adenylyltransferase FICD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ficd",
                    "type": "recommended"
                },
                {
                    "name": "D5Ertd40e",
                    "type": "synonym"
                },
                {
                    "name": "Ficd",
                    "type": "synonym"
                },
                {
                    "name": "Hype",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BIX9-1",
            "evidence": [
                {
                    "id": "0070644",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070644"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BVA6-1",
            "uniprot_ac": "Q9BVA6",
            "uniprot_id": "FICD_HUMAN",
            "refseq_ac": "NP_009007",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein adenylyltransferase FICD",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.108",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "AMPylator FICD",
                    "type": "synonym"
                },
                {
                    "name": "De-AMPylase FICD",
                    "type": "synonym"
                },
                {
                    "name": "FIC domain containing",
                    "type": "synonym"
                },
                {
                    "name": "FIC domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "HIP-13",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin interacting protein E",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin yeast partner E",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin-interacting protein 13",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin-interacting protein E",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate-protein transferase FICD",
                    "type": "synonym"
                },
                {
                    "name": "de-AMPylase FICD",
                    "type": "synonym"
                },
                {
                    "name": "fic S-phase protein cell division homolog",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin interactor protein E",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin yeast partner E",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-interacting protein 13",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-interacting protein E",
                    "type": "synonym"
                },
                {
                    "name": "protein adenylyltransferase FICD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FICD",
                    "type": "recommended"
                },
                {
                    "name": "FICD",
                    "type": "synonym"
                },
                {
                    "name": "HIP13",
                    "type": "synonym"
                },
                {
                    "name": "HYPE",
                    "type": "synonym"
                },
                {
                    "name": "PRO9857",
                    "type": "synonym"
                },
                {
                    "name": "SPG92",
                    "type": "synonym"
                },
                {
                    "name": "UNQ3041",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BVA6-1",
            "evidence": [
                {
                    "id": "620911",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620911"
                },
                {
                    "id": "0070644",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070644"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY47-1",
            "uniprot_ac": "Q6AY47",
            "uniprot_id": "FICD_RAT",
            "refseq_ac": "NP_001010946",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein adenylyltransferase FICD",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.108",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "AMPylator FICD",
                    "type": "synonym"
                },
                {
                    "name": "De-AMPylase FICD",
                    "type": "synonym"
                },
                {
                    "name": "FIC domain containing",
                    "type": "synonym"
                },
                {
                    "name": "FIC domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate-protein transferase FICD",
                    "type": "synonym"
                },
                {
                    "name": "de-AMPylase FICD",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin interactor protein E",
                    "type": "synonym"
                },
                {
                    "name": "protein adenylyltransferase FICD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ficd",
                    "type": "recommended"
                },
                {
                    "name": "Ficd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY47-1",
            "evidence": [
                {
                    "id": "0070644",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070644"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8SWV6-1",
            "uniprot_ac": "Q8SWV6",
            "uniprot_id": "FICD_DROME",
            "refseq_ac": "NP_609026",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein adenylyltransferase Fic",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.108",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG9523-PA",
                    "type": "synonym"
                },
                {
                    "name": "De-AMPylase Fic",
                    "type": "synonym"
                },
                {
                    "name": "Fic domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Fic-PA",
                    "type": "synonym"
                },
                {
                    "name": "dFic",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k11101",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fic",
                    "type": "recommended"
                },
                {
                    "name": "CG9523",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9523",
                    "type": "synonym"
                },
                {
                    "name": "Fic",
                    "type": "synonym"
                },
                {
                    "name": "fic",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k11101",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8SWV6-1",
            "evidence": [
                {
                    "id": "0070644",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070644"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070644"
}