{
    "disease_id": "DOID:0111210",
    "recommended_name": {
        "id": "DOID:0111210",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111210",
        "name": "autosomal dominant distal hereditary motor neuronopathy 6",
        "description": "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32."
    },
    "synonyms": [
        {
            "id": "DOID:0111210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111210",
            "name": "HMN IID",
            "description": ""
        },
        {
            "id": "DOID:0111210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111210",
            "name": "HMN2D",
            "description": ""
        },
        {
            "id": "DOID:0111210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111210",
            "name": "distal hereditary motor neuropathy type IID",
            "description": ""
        },
        {
            "id": "DOID:0111210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111210",
            "name": "distal spinal muscular atrophy with calf predominance",
            "description": ""
        },
        {
            "id": "DOID:0111210",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111210",
            "name": "distal hereditary motor neuronopathy type 2D",
            "description": ""
        },
        {
            "id": "MONDO:0014259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014259",
            "name": "neuronopathy, distal hereditary motor, type 2D",
            "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene."
        },
        {
            "id": "MONDO:0014259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014259",
            "name": "FBXO38 neuronopathy, distal hereditary motor",
            "description": ""
        },
        {
            "id": "MONDO:0014259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014259",
            "name": "neuronopathy, distal hereditary motor caused by mutation in FBXO38",
            "description": ""
        },
        {
            "id": "MONDO:0014259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014259",
            "name": "HMN2D",
            "description": ""
        },
        {
            "id": "MONDO:0014259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014259",
            "name": "neuronopathy, distal hereditary motor, type IID",
            "description": ""
        },
        {
            "id": "MIM:615575",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615575",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 6",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111210"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111210",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111210",
            "categories": []
        },
        {
            "id": "MONDO:0014259",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014259",
            "categories": []
        },
        {
            "id": "MIM:615575",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615575",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2P7-1",
            "uniprot_ac": "E7F2P7",
            "uniprot_id": "E7F2P7_DANRE",
            "refseq_ac": "NP_001420015",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 38",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fbxo38",
                    "type": "recommended"
                },
                {
                    "name": "fbxo38",
                    "type": "synonym"
                },
                {
                    "name": "fc18a08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc18a08",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2P7-1",
            "evidence": [
                {
                    "id": "0111210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BMI0-1",
            "uniprot_ac": "Q8BMI0",
            "uniprot_id": "FBX38_MOUSE",
            "refseq_ac": "NP_598897",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 38",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 38 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 38",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein modulating KLF7 activity",
                    "type": "synonym"
                },
                {
                    "name": "MoKA",
                    "type": "synonym"
                },
                {
                    "name": "Modulator of KLF7 activity",
                    "type": "synonym"
                },
                {
                    "name": "modulator of KLF7 activity",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxo38",
                    "type": "recommended"
                },
                {
                    "name": "6030410I24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fbxo38",
                    "type": "synonym"
                },
                {
                    "name": "Moka",
                    "type": "synonym"
                },
                {
                    "name": "SP329",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BMI0-1",
            "evidence": [
                {
                    "id": "0111210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PIJ6-1",
            "uniprot_ac": "Q6PIJ6",
            "uniprot_id": "FBX38_HUMAN",
            "refseq_ac": "NP_001258652",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 38",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 38 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 38",
                    "type": "synonym"
                },
                {
                    "name": "modulator of KLF7 activity homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBXO38",
                    "type": "recommended"
                },
                {
                    "name": "FBXO38",
                    "type": "synonym"
                },
                {
                    "name": "Fbx38",
                    "type": "synonym"
                },
                {
                    "name": "HMN2D",
                    "type": "synonym"
                },
                {
                    "name": "HMND6",
                    "type": "synonym"
                },
                {
                    "name": "MOKA",
                    "type": "synonym"
                },
                {
                    "name": "SP329",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PIJ6-1",
            "evidence": [
                {
                    "id": "615575",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615575"
                },
                {
                    "id": "0111210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111210"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZIK8-1",
            "uniprot_ac": "D3ZIK8",
            "uniprot_id": "D3ZIK8_RAT",
            "refseq_ac": "NP_001358950",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 38",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein 38",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxo38",
                    "type": "recommended"
                },
                {
                    "name": "Fbxo38",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZIK8-1",
            "evidence": [
                {
                    "id": "0111210",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111210"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111210"
}