{
    "disease_id": "DOID:0110183",
    "recommended_name": {
        "id": "DOID:0110183",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110183",
        "name": "Charcot-Marie-Tooth disease type 4C",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110183",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110183",
            "name": "CMT4C",
            "description": ""
        },
        {
            "id": "DOID:0110183",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110183",
            "name": "Charcot-Marie-Tooth neuropathy type 4C",
            "description": ""
        },
        {
            "id": "DOID:0110183",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110183",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth disease type 4C",
            "description": "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported."
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "CMT4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth disease type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "SH3TC2 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "CMT 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot Marie Tooth disease type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth disease, type 4C",
            "description": ""
        },
        {
            "id": "MIM:601596",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601596",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4C",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 4C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110183"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110183",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110183",
            "categories": []
        },
        {
            "id": "MONDO:0011113",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "categories": []
        },
        {
            "id": "MIM:601596",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601596",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T7U2-1",
            "uniprot_ac": "A0AB32T7U2",
            "uniprot_id": "A0AB32T7U2_DANRE",
            "refseq_ac": "XP_068069483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sh3tc2",
                    "type": "recommended"
                },
                {
                    "name": "sh3tc2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T7U2-1",
            "evidence": [
                {
                    "id": "0110183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80VA5-1",
            "uniprot_ac": "Q80VA5",
            "uniprot_id": "S3TC2_MOUSE",
            "refseq_ac": "NP_766216",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 domain and tetratricopeptide repeat-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "SH3 domain and tetratricopeptide repeat-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SH3 domain and tetratricopeptide repeats-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh3tc2",
                    "type": "recommended"
                },
                {
                    "name": "D430044G18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1985",
                    "type": "synonym"
                },
                {
                    "name": "Sh3tc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80VA5-1",
            "evidence": [
                {
                    "id": "0110183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TF17-1",
            "uniprot_ac": "Q8TF17",
            "uniprot_id": "S3TC2_HUMAN",
            "refseq_ac": "NP_078853",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 domain and tetratricopeptide repeat-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "SH3 domain and tetratricopeptide repeat-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SH3 domain and tetratricopeptide repeats-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SH3TC2",
                    "type": "recommended"
                },
                {
                    "name": "CMT4C",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1985",
                    "type": "synonym"
                },
                {
                    "name": "MNMN",
                    "type": "synonym"
                },
                {
                    "name": "PP12494",
                    "type": "synonym"
                },
                {
                    "name": "SH3TC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TF17-1",
            "evidence": [
                {
                    "id": "601596",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601596"
                },
                {
                    "id": "0110183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M9P6-1",
            "uniprot_ac": "F1M9P6",
            "uniprot_id": "F1M9P6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 domain and tetratricopeptide repeats 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh3tc2",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M9P6-1",
            "evidence": [
                {
                    "id": "0110183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110183"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110183"
}