{
    "disease_id": "DOID:0110995",
    "recommended_name": {
        "id": "DOID:0110995",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110995",
        "name": "Joubert syndrome 26",
        "description": "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110995",
            "name": "JBTS26",
            "description": ""
        },
        {
            "id": "MONDO:0014771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014771",
            "name": "Joubert syndrome 26",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene."
        },
        {
            "id": "MONDO:0014771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014771",
            "name": "JBTS26",
            "description": ""
        },
        {
            "id": "MONDO:0014771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014771",
            "name": "Joubert syndrome 26",
            "description": ""
        },
        {
            "id": "MONDO:0014771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014771",
            "name": "Joubert syndrome caused by mutation in KIAA0556",
            "description": ""
        },
        {
            "id": "MONDO:0014771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014771",
            "name": "Joubert syndrome type 26",
            "description": ""
        },
        {
            "id": "MONDO:0014771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014771",
            "name": "KIAA0556 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:616784",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616784",
            "name": "Joubert syndrome 26",
            "description": "Joubert syndrome 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110995"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110995",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110995",
            "categories": []
        },
        {
            "id": "MONDO:0014771",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014771",
            "categories": []
        },
        {
            "id": "MIM:616784",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616784",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C753-1",
            "uniprot_ac": "Q8C753",
            "uniprot_id": "KATIP_MOUSE",
            "refseq_ac": "NP_001074491",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Katanin-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "katanin-interacting protein isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Katnip",
                    "type": "recommended"
                },
                {
                    "name": "D430042O09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Katnip",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0556",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C753-1",
            "evidence": [
                {
                    "id": "0110995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60303-1",
            "uniprot_ac": "O60303",
            "uniprot_id": "KATIP_HUMAN",
            "refseq_ac": "NP_056017",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Katanin-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "katanin-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KATNIP",
                    "type": "recommended"
                },
                {
                    "name": "JBTS26",
                    "type": "synonym"
                },
                {
                    "name": "KATNIP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0556",
                    "type": "synonym"
                }
            ],
            "record_id": "O60303-1",
            "evidence": [
                {
                    "id": "616784",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616784"
                },
                {
                    "id": "0110995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LX85-1",
            "uniprot_ac": "F1LX85",
            "uniprot_id": "F1LX85_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": "Katanin interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Katnip",
                    "type": "recommended"
                },
                {
                    "name": "LOC361646",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LX85-1",
            "evidence": [
                {
                    "id": "0110995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110995"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110995"
}