{
    "disease_id": "DOID:0110178",
    "recommended_name": {
        "id": "DOID:0110178",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110178",
        "name": "Charcot-Marie-Tooth disease axonal type 2V",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110178",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110178",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
            "description": ""
        },
        {
            "id": "DOID:0110178",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110178",
            "name": "CMT2V",
            "description": ""
        },
        {
            "id": "DOID:0110178",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110178",
            "name": "Charcot-Marie-Tooth neuropathy type 2V",
            "description": ""
        },
        {
            "id": "DOID:0110178",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110178",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
            "description": ""
        },
        {
            "id": "MONDO:0014665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014665",
            "name": "Charcot-Marie-Tooth disease axonal type 2V",
            "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene."
        },
        {
            "id": "MONDO:0014665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014665",
            "name": "CMT2V",
            "description": ""
        },
        {
            "id": "MONDO:0014665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014665",
            "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
            "description": ""
        },
        {
            "id": "MONDO:0014665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014665",
            "name": "NAGLU Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0014665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014665",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014665",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
            "description": ""
        },
        {
            "id": "MONDO:0014665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014665",
            "name": "hereditary adult-onset painful axonal polyneuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0014665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014665",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
            "description": ""
        },
        {
            "id": "MIM:616491",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616491",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2V"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110178"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110178",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110178",
            "categories": []
        },
        {
            "id": "MONDO:0014665",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014665",
            "categories": []
        },
        {
            "id": "MIM:616491",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616491",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5D7-1",
            "uniprot_ac": "A0ACD6B5D7",
            "uniprot_id": "A0ACD6B5D7_DANRE",
            "refseq_ac": "XP_688608",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-N-acetylglucosaminidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.50",
                    "type": "synonym"
                },
                {
                    "name": "alpha-N-acetylglucosaminidase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "naglu",
                    "type": "recommended"
                },
                {
                    "name": "naglu",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5D7-1",
            "evidence": [
                {
                    "id": "0110178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88325-1",
            "uniprot_ac": "O88325",
            "uniprot_id": "O88325_MOUSE",
            "refseq_ac": "NP_038820",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-N-acetylglucosaminidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.50",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyl-glucosaminidase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-N-acetylglucosaminidase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-N-acetylglucosaminidase, lysosomal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naglu",
                    "type": "recommended"
                },
                {
                    "name": "Naglu",
                    "type": "synonym"
                }
            ],
            "record_id": "O88325-1",
            "evidence": [
                {
                    "id": "0110178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54802-1",
            "uniprot_ac": "P54802",
            "uniprot_id": "ANAG_HUMAN",
            "refseq_ac": "NP_000254",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-N-acetylglucosaminidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.50",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyl-alpha-glucosaminidase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminidase, alpha",
                    "type": "synonym"
                },
                {
                    "name": "NAG",
                    "type": "synonym"
                },
                {
                    "name": "alpha-N-acetylglucosaminidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-N-acetylglucosaminidase",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAGLU",
                    "type": "recommended"
                },
                {
                    "name": "CMT2V",
                    "type": "synonym"
                },
                {
                    "name": "MPS-IIIB",
                    "type": "synonym"
                },
                {
                    "name": "MPS3B",
                    "type": "synonym"
                },
                {
                    "name": "NAGLU",
                    "type": "synonym"
                },
                {
                    "name": "NAG",
                    "type": "synonym"
                },
                {
                    "name": "UFHSD1",
                    "type": "synonym"
                },
                {
                    "name": "UFHSD",
                    "type": "synonym"
                }
            ],
            "record_id": "P54802-1",
            "evidence": [
                {
                    "id": "616491",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616491"
                },
                {
                    "id": "0110178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZL3-1",
            "uniprot_ac": "D3ZZL3",
            "uniprot_id": "D3ZZL3_RAT",
            "refseq_ac": "NP_001413972",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-N-acetylglucosaminidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.50",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminidase, alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha-N-acetylglucosaminidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naglu",
                    "type": "recommended"
                },
                {
                    "name": "Naglu",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564228",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZL3-1",
            "evidence": [
                {
                    "id": "0110178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLL5-1",
            "uniprot_ac": "Q9VLL5",
            "uniprot_id": "Q9VLL5_DROME",
            "refseq_ac": "NP_001260251",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-N-acetylglucosaminidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.50",
                    "type": "synonym"
                },
                {
                    "name": "CG13397-PB",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyl-alpha-glucosaminidase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Naglu-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naglu",
                    "type": "recommended"
                },
                {
                    "name": "172F5T",
                    "type": "synonym"
                },
                {
                    "name": "CG13397",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13397",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13397",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:172F5T",
                    "type": "synonym"
                },
                {
                    "name": "Naglu",
                    "type": "synonym"
                },
                {
                    "name": "anon-sts19",
                    "type": "synonym"
                },
                {
                    "name": "dNAGLU",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLL5-1",
            "evidence": [
                {
                    "id": "0110178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110178"
}