{
    "disease_id": "DOID:0061189",
    "recommended_name": {
        "id": "DOID:0061189",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061189",
        "name": "neuronal ceroid lipofuscinosis 15",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0030947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030947",
            "name": "neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0030947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030947",
            "name": "CONRIBA",
            "description": ""
        },
        {
            "id": "MONDO:0030947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030947",
            "name": "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities",
            "description": ""
        },
        {
            "id": "MIM:619173",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619173",
            "name": "Ceroid lipofuscinosis, neuronal, 15",
            "description": "Ceroid lipofuscinosis, neuronal, 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061189"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061189",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061189",
            "categories": []
        },
        {
            "id": "MONDO:0030947",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030947",
            "categories": []
        },
        {
            "id": "MIM:619173",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619173",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F798-1",
            "uniprot_ac": "E7F798",
            "uniprot_id": "E7F798_DANRE",
            "refseq_ac": "XP_009302552",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein",
                    "type": "recommended"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clcn6",
                    "type": "recommended"
                },
                {
                    "name": "clcn6",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F798-1",
            "evidence": [
                {
                    "id": "0061189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35454-1",
            "uniprot_ac": "O35454",
            "uniprot_id": "CLCN6_MOUSE",
            "refseq_ac": "NP_036059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 6",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transport protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ClC-6",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride transport protein 6",
                    "type": "synonym"
                },
                {
                    "name": "clC-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn6",
                    "type": "recommended"
                },
                {
                    "name": "Clc6",
                    "type": "synonym"
                },
                {
                    "name": "Clcn6",
                    "type": "synonym"
                }
            ],
            "record_id": "O35454-1",
            "evidence": [
                {
                    "id": "0061189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51797-1",
            "uniprot_ac": "P51797",
            "uniprot_id": "CLCN6_HUMAN",
            "refseq_ac": "NP_001243888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 6",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transport protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ClC-6",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride transport protein 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN6",
                    "type": "recommended"
                },
                {
                    "name": "CLC-6",
                    "type": "synonym"
                },
                {
                    "name": "CLCN6",
                    "type": "synonym"
                },
                {
                    "name": "CONRIBA",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0046",
                    "type": "synonym"
                }
            ],
            "record_id": "P51797-1",
            "evidence": [
                {
                    "id": "619173",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619173"
                },
                {
                    "id": "0061189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A3H5-1",
            "uniprot_ac": "D4A3H5",
            "uniprot_id": "D4A3H5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn6",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A3H5-1",
            "evidence": [
                {
                    "id": "0061189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29293-1",
            "uniprot_ac": "P29293",
            "uniprot_id": "ACRO_RAT",
            "refseq_ac": "NP_036622",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acrosin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.10",
                    "type": "synonym"
                },
                {
                    "name": "acrosin precursor",
                    "type": "synonym"
                },
                {
                    "name": "acrosin prepropeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acr",
                    "type": "recommended"
                },
                {
                    "name": "Acro",
                    "type": "synonym"
                },
                {
                    "name": "Acr",
                    "type": "synonym"
                }
            ],
            "record_id": "P29293-1",
            "evidence": [
                {
                    "id": "0061189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061189"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061189"
}