{
    "disease_id": "DOID:0111199",
    "recommended_name": {
        "id": "DOID:0111199",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111199",
        "name": "autosomal dominant distal hereditary motor neuronopathy 7",
        "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "DHMN7A",
            "description": ""
        },
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "DHMNVPy",
            "description": ""
        },
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "HMN VIIA",
            "description": ""
        },
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "HMN7A",
            "description": ""
        },
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "Harper-Young myopath",
            "description": ""
        },
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "dHMN7",
            "description": ""
        },
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "distal hereditary motor neuropathy type VIIA",
            "description": ""
        },
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "distal spinal muscular atrophy with vocal cord paralysis",
            "description": ""
        },
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "distal spinal muscular atrophy with vocal cord paralysis type 7A",
            "description": ""
        },
        {
            "id": "DOID:0111199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "name": "distal hereditary motor neuronopathy type 7",
            "description": ""
        },
        {
            "id": "MONDO:0008024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008024",
            "name": "neuronopathy, distal hereditary motor, type 7A",
            "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene."
        },
        {
            "id": "MONDO:0008024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008024",
            "name": "SLC5A7 neuronopathy, distal hereditary motor",
            "description": ""
        },
        {
            "id": "MONDO:0008024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008024",
            "name": "neuronopathy, distal hereditary motor caused by mutation in SLC5A7",
            "description": ""
        },
        {
            "id": "MONDO:0008024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008024",
            "name": "HMN7A",
            "description": ""
        },
        {
            "id": "MONDO:0008024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008024",
            "name": "neuronopathy, distal hereditary motor, type VIIA",
            "description": ""
        },
        {
            "id": "MIM:158580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158580",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 7",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111199"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111199",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111199",
            "categories": []
        },
        {
            "id": "MONDO:0008024",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008024",
            "categories": []
        },
        {
            "id": "MIM:158580",
            "database": "MIM",
            "url": "https://www.omim.org/entry/158580",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6Q2-1",
            "uniprot_ac": "A0ACD6B6Q2",
            "uniprot_id": "A0ACD6B6Q2_DANRE",
            "refseq_ac": "XP_021332411",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 7",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc5a7a",
                    "type": "recommended"
                },
                {
                    "name": "slc5a7a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6Q2-1",
            "evidence": [
                {
                    "id": "0111199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGY9-1",
            "uniprot_ac": "Q8BGY9",
            "uniprot_id": "SC5A7_MOUSE",
            "refseq_ac": "NP_071308",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CHT",
                    "type": "synonym"
                },
                {
                    "name": "Hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 7",
                    "type": "synonym"
                },
                {
                    "name": "hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a7",
                    "type": "recommended"
                },
                {
                    "name": "CHT1",
                    "type": "synonym"
                },
                {
                    "name": "Cht1",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGY9-1",
            "evidence": [
                {
                    "id": "0111199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZV3-1",
            "uniprot_ac": "Q9GZV3",
            "uniprot_id": "SC5A7_HUMAN",
            "refseq_ac": "NP_001291934",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CHT",
                    "type": "synonym"
                },
                {
                    "name": "Hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "Motor neuronopathy, distal hereditary, type VIIA",
                    "type": "synonym"
                },
                {
                    "name": "Motor neuronopathy, distal hereditary, with vocal cord paresis",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 7",
                    "type": "synonym"
                },
                {
                    "name": "hCHT1",
                    "type": "synonym"
                },
                {
                    "name": "hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/choline cotransporter), member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC5A7",
                    "type": "recommended"
                },
                {
                    "name": "CHT1",
                    "type": "synonym"
                },
                {
                    "name": "CHT",
                    "type": "synonym"
                },
                {
                    "name": "CMS20",
                    "type": "synonym"
                },
                {
                    "name": "DHMNVP",
                    "type": "synonym"
                },
                {
                    "name": "HMN7A",
                    "type": "synonym"
                },
                {
                    "name": "HMND7",
                    "type": "synonym"
                },
                {
                    "name": "SLC5A7",
                    "type": "synonym"
                },
                {
                    "name": "hCHT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZV3-1",
            "evidence": [
                {
                    "id": "158580",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/158580"
                },
                {
                    "id": "0111199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JMD7-1",
            "uniprot_ac": "Q9JMD7",
            "uniprot_id": "SC5A7_RAT",
            "refseq_ac": "NP_445973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CHT",
                    "type": "synonym"
                },
                {
                    "name": "Hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 7",
                    "type": "synonym"
                },
                {
                    "name": "hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "rCHT1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (choline transporter), member 7",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/choline cotransporter), member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a7",
                    "type": "recommended"
                },
                {
                    "name": "Cht1",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a7",
                    "type": "synonym"
                },
                {
                    "name": "rCHT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JMD7-1",
            "evidence": [
                {
                    "id": "0111199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE46-1",
            "uniprot_ac": "Q9VE46",
            "uniprot_id": "SC5A7_DROME",
            "refseq_ac": "NP_650743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "High-affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG7708-PA",
                    "type": "synonym"
                },
                {
                    "name": "ChT-PA",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ChT",
                    "type": "recommended"
                },
                {
                    "name": "CG7708",
                    "type": "synonym"
                },
                {
                    "name": "ChT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7708",
                    "type": "synonym"
                },
                {
                    "name": "dSLC5A15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE46-1",
            "evidence": [
                {
                    "id": "0111199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111199"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111199"
}