{
    "disease_id": "DOID:0111205",
    "recommended_name": {
        "id": "DOID:0111205",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111205",
        "name": "autosomal dominant distal hereditary motor neuronopathy 12",
        "description": "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111205",
            "name": "distal HMN VB",
            "description": ""
        },
        {
            "id": "DOID:0111205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111205",
            "name": "distal spinal muscular atrophy type VB",
            "description": ""
        },
        {
            "id": "DOID:0111205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111205",
            "name": "distal hereditary motor neuronopathy type 5B",
            "description": ""
        },
        {
            "id": "MONDO:0013884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013884",
            "name": "neuronopathy, distal hereditary motor, type 5B",
            "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene."
        },
        {
            "id": "MONDO:0013884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013884",
            "name": "REEP1 neuronopathy, distal hereditary motor",
            "description": ""
        },
        {
            "id": "MONDO:0013884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013884",
            "name": "neuronopathy, distal hereditary motor caused by mutation in REEP1",
            "description": ""
        },
        {
            "id": "MONDO:0013884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013884",
            "name": "HMN5B",
            "description": ""
        },
        {
            "id": "MONDO:0013884",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013884",
            "name": "neuronopathy, distal hereditary motor, type VB",
            "description": ""
        },
        {
            "id": "MIM:614751",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614751",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 12",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111205"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111205",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111205",
            "categories": []
        },
        {
            "id": "MONDO:0013884",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013884",
            "categories": []
        },
        {
            "id": "MIM:614751",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614751",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P9M3-1",
            "uniprot_ac": "A0A8M9P9M3",
            "uniprot_id": "A0A8M9P9M3_DANRE",
            "refseq_ac": "XP_021323143",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein",
                    "type": "recommended"
                },
                {
                    "name": "receptor expression-enhancing protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "reep1",
                    "type": "recommended"
                },
                {
                    "name": "reep1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P9M3-1",
            "evidence": [
                {
                    "id": "0111205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGH4-1",
            "uniprot_ac": "Q8BGH4",
            "uniprot_id": "REEP1_MOUSE",
            "refseq_ac": "NP_848723",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "receptor expression-enhancing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Reep1",
                    "type": "recommended"
                },
                {
                    "name": "D6Ertd253e",
                    "type": "synonym"
                },
                {
                    "name": "Reep1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGH4-1",
            "evidence": [
                {
                    "id": "0111205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H902-1",
            "uniprot_ac": "Q9H902",
            "uniprot_id": "REEP1_HUMAN",
            "refseq_ac": "NP_001158202",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Spastic paraplegia 31 protein",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 31 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "REEP1",
                    "type": "recommended"
                },
                {
                    "name": "C2orf23",
                    "type": "synonym"
                },
                {
                    "name": "DSMA6",
                    "type": "synonym"
                },
                {
                    "name": "HMN5B",
                    "type": "synonym"
                },
                {
                    "name": "HMND12",
                    "type": "synonym"
                },
                {
                    "name": "HMNR6",
                    "type": "synonym"
                },
                {
                    "name": "REEP1",
                    "type": "synonym"
                },
                {
                    "name": "SPG31",
                    "type": "synonym"
                },
                {
                    "name": "Yip2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H902-1",
            "evidence": [
                {
                    "id": "614751",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614751"
                },
                {
                    "id": "0111205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A193-1",
            "uniprot_ac": "D4A193",
            "uniprot_id": "D4A193_RAT",
            "refseq_ac": "NP_001416085",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein",
                    "type": "recommended"
                },
                {
                    "name": "receptor expression-enhancing protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Reep1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305230",
                    "type": "synonym"
                },
                {
                    "name": "Reep1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A193-1",
            "evidence": [
                {
                    "id": "0111205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4JCU3-1",
            "uniprot_ac": "A0A0B4JCU3",
            "uniprot_id": "A0A0B4JCU3_DROME",
            "refseq_ac": "NP_001188988",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42678-PI",
                    "type": "synonym"
                },
                {
                    "name": "REEP1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "REEP1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Receptor expression enhancing protein A, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "ReepA-PI",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression enhancing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression enhancing protein A, isoform I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ReepA",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD42159",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RE29641",
                    "type": "synonym"
                },
                {
                    "name": "CG30190",
                    "type": "synonym"
                },
                {
                    "name": "CG30193",
                    "type": "synonym"
                },
                {
                    "name": "CG42678",
                    "type": "synonym"
                },
                {
                    "name": "CG9848",
                    "type": "synonym"
                },
                {
                    "name": "D-reep1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42678",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42678",
                    "type": "synonym"
                },
                {
                    "name": "REEP1",
                    "type": "synonym"
                },
                {
                    "name": "REEPA",
                    "type": "synonym"
                },
                {
                    "name": "Reep1",
                    "type": "synonym"
                },
                {
                    "name": "ReepA",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.113",
                    "type": "synonym"
                },
                {
                    "name": "reep1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4JCU3-1",
            "evidence": [
                {
                    "id": "0111205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111205"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111205"
}