{
    "disease_id": "DOID:0090003",
    "recommended_name": {
        "id": "DOID:0090003",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090003",
        "name": "agenesis of the corpus callosum with peripheral neuropathy",
        "description": "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0090003",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090003",
            "name": "Andermann syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090003",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090003",
            "name": "Charlevoix disease",
            "description": ""
        },
        {
            "id": "DOID:0090003",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090003",
            "name": "corpus callosum agenesis-neuronopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of the corpus callosum with peripheral neuropathy",
            "description": "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait."
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "Andermann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "Charlevoix disease",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of the corpus callosum with peripheral neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "corpus callosum agenesis-neuronopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "hereditary motor and sensory neuropathy with agenesis of the corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "peripheral neuropathy associated with agenesis of the corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "ACCPN",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "HMSN/ACC",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of corpus callosum with neuronopathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of corpus callosum with peripheral neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of corpus callosum with polyneuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "corpus callosum agenesis neuronopathy",
            "description": ""
        },
        {
            "id": "MIM:218000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218000",
            "name": "Agenesis of the corpus callosum, with peripheral neuropathy",
            "description": "Agenesis of the corpus callosum, with peripheral neuropathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090003"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090003",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090003",
            "categories": []
        },
        {
            "id": "MONDO:0000902",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "categories": []
        },
        {
            "id": "MIM:218000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/218000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q924N4-1",
            "uniprot_ac": "Q924N4",
            "uniprot_id": "S12A6_MOUSE",
            "refseq_ac": "NP_598410",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 6",
                    "type": "recommended"
                },
                {
                    "name": "Electroneutral potassium-chloride cotransporter 3",
                    "type": "synonym"
                },
                {
                    "name": "K-Cl cotransporter 3",
                    "type": "synonym"
                },
                {
                    "name": "electroneutral potassium-chloride cotransporter 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 6 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc12a6",
                    "type": "recommended"
                },
                {
                    "name": "9530023I19Rik",
                    "type": "synonym"
                },
                {
                    "name": "KCC3",
                    "type": "synonym"
                },
                {
                    "name": "Kcc3",
                    "type": "synonym"
                },
                {
                    "name": "Slc12a6",
                    "type": "synonym"
                },
                {
                    "name": "gaxp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924N4-1",
            "evidence": [
                {
                    "id": "0090003",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090003"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHW9-1",
            "uniprot_ac": "Q9UHW9",
            "uniprot_id": "S12A6_HUMAN",
            "refseq_ac": "NP_001035959",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 6",
                    "type": "recommended"
                },
                {
                    "name": "Electroneutral potassium-chloride cotransporter 3",
                    "type": "synonym"
                },
                {
                    "name": "K-Cl cotransporter 3",
                    "type": "synonym"
                },
                {
                    "name": "electroneutral potassium-chloride cotransporter 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium chloride cotransporter 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium chloride cotransporter KCC3a-S3",
                    "type": "synonym"
                },
                {
                    "name": "potassium-chloride transporter-3a",
                    "type": "synonym"
                },
                {
                    "name": "potassium-chloride transporter-3b",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (potassium/chloride transporter), member 6",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (potassium/chloride transporters), member 6",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 6 isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC12A6",
                    "type": "recommended"
                },
                {
                    "name": "ACCPN",
                    "type": "synonym"
                },
                {
                    "name": "CMT2II",
                    "type": "synonym"
                },
                {
                    "name": "KCC3A",
                    "type": "synonym"
                },
                {
                    "name": "KCC3B",
                    "type": "synonym"
                },
                {
                    "name": "KCC3",
                    "type": "synonym"
                },
                {
                    "name": "SLC12A6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHW9-1",
            "evidence": [
                {
                    "id": "218000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/218000"
                },
                {
                    "id": "0090003",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090003"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6N7-1",
            "uniprot_ac": "G3V6N7",
            "uniprot_id": "G3V6N7_RAT",
            "refseq_ac": "XP_006234772",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12, member 6",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 6 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc12a6",
                    "type": "recommended"
                },
                {
                    "name": "Kcc3",
                    "type": "synonym"
                },
                {
                    "name": "Slc12a6",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6N7-1",
            "evidence": [
                {
                    "id": "0090003",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090003"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LGD3-1",
            "uniprot_ac": "A0A0B4LGD3",
            "uniprot_id": "A0A0B4LGD3_DROME",
            "refseq_ac": "NP_001286795",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5594-PG",
                    "type": "synonym"
                },
                {
                    "name": "E(sda)J",
                    "type": "synonym"
                },
                {
                    "name": "Kazachoc, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "kazachoc, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "kcc-PG",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 60A-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcc",
                    "type": "recommended"
                },
                {
                    "name": "2R8",
                    "type": "synonym"
                },
                {
                    "name": "BEST:CK01510",
                    "type": "synonym"
                },
                {
                    "name": "CG2768",
                    "type": "synonym"
                },
                {
                    "name": "CG5594",
                    "type": "synonym"
                },
                {
                    "name": "CK01510",
                    "type": "synonym"
                },
                {
                    "name": "DmKCC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5594",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5594",
                    "type": "synonym"
                },
                {
                    "name": "E(sda)J",
                    "type": "synonym"
                },
                {
                    "name": "KCC",
                    "type": "synonym"
                },
                {
                    "name": "Kcc",
                    "type": "synonym"
                },
                {
                    "name": "Line J",
                    "type": "synonym"
                },
                {
                    "name": "kcc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)60A-C",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_17605",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LGD3-1",
            "evidence": [
                {
                    "id": "0090003",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090003"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090003"
}