{
    "disease_id": "DOID:0080722",
    "recommended_name": {
        "id": "DOID:0080722",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080722",
        "name": "Kenny-Caffey syndrome type 1",
        "description": "A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "autosomal recessive Kenny-Caffey syndrome",
            "description": "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet."
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "Kenny-Caffey syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "Kenny-Caffey syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "KCS1",
            "description": ""
        },
        {
            "id": "MONDO:0009486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "name": "Kenny-Caffey syndrome, type 1",
            "description": ""
        },
        {
            "id": "MIM:244460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/244460",
            "name": "Kenny-Caffey syndrome 1",
            "description": "Kenny-Caffey syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080722"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080722",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080722",
            "categories": []
        },
        {
            "id": "MONDO:0009486",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009486",
            "categories": []
        },
        {
            "id": "MIM:244460",
            "database": "MIM",
            "url": "https://www.omim.org/entry/244460",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5U378-1",
            "uniprot_ac": "Q5U378",
            "uniprot_id": "TBCE_DANRE",
            "refseq_ac": "NP_001035078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone E",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbce",
                    "type": "recommended"
                },
                {
                    "name": "tbce",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123075",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U378-1",
            "evidence": [
                {
                    "id": "0080722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIV8-1",
            "uniprot_ac": "Q8CIV8",
            "uniprot_id": "TBCE_MOUSE",
            "refseq_ac": "NP_848027",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone E",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "progressive motor neuropathy",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbce",
                    "type": "recommended"
                },
                {
                    "name": "2610206D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "C530005D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tbce",
                    "type": "synonym"
                },
                {
                    "name": "pmn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIV8-1",
            "evidence": [
                {
                    "id": "0080722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15813-1",
            "uniprot_ac": "Q15813",
            "uniprot_id": "TBCE_HUMAN",
            "refseq_ac": "NP_001072983",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone E",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone E isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBCE",
                    "type": "recommended"
                },
                {
                    "name": "HRD",
                    "type": "synonym"
                },
                {
                    "name": "KCS1",
                    "type": "synonym"
                },
                {
                    "name": "KCS",
                    "type": "synonym"
                },
                {
                    "name": "PEAMO",
                    "type": "synonym"
                },
                {
                    "name": "TBCE",
                    "type": "synonym"
                },
                {
                    "name": "pac2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15813-1",
            "evidence": [
                {
                    "id": "244460",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/244460"
                },
                {
                    "id": "0080722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39937-1",
            "uniprot_ac": "P39937",
            "uniprot_id": "PAC2_YEAST",
            "refseq_ac": "NP_010922",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein PAC2",
                    "type": "recommended"
                },
                {
                    "name": "Pac2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAC2",
                    "type": "recommended"
                },
                {
                    "name": "PAC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P39937-1",
            "evidence": [
                {
                    "id": "0080722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVQ9-1",
            "uniprot_ac": "Q5FVQ9",
            "uniprot_id": "TBCE_RAT",
            "refseq_ac": "NP_001012161",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone E",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbce",
                    "type": "recommended"
                },
                {
                    "name": "Tbce",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVQ9-1",
            "evidence": [
                {
                    "id": "0080722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z6J5-1",
            "uniprot_ac": "A1Z6J5",
            "uniprot_id": "TBCE_DROME",
            "refseq_ac": "NP_610197",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone E",
                    "type": "recommended"
                },
                {
                    "name": "CG7861-PC",
                    "type": "synonym"
                },
                {
                    "name": "Tbce-PC",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-binding cofactor E, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbce",
                    "type": "recommended"
                },
                {
                    "name": "CG7861",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7861",
                    "type": "synonym"
                },
                {
                    "name": "TBCE",
                    "type": "synonym"
                },
                {
                    "name": "Tbce",
                    "type": "synonym"
                },
                {
                    "name": "dTBCE",
                    "type": "synonym"
                },
                {
                    "name": "tbce",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z6J5-1",
            "evidence": [
                {
                    "id": "0080722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080722"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080722"
}