{
    "disease_id": "DOID:0080723",
    "recommended_name": {
        "id": "DOID:0080723",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080723",
        "name": "Kenny-Caffey syndrome type 2",
        "description": "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "autosomal dominant Kenny-Caffey syndrome",
            "description": "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones."
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "KCS2",
            "description": ""
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "Kenny-Caffey syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "Kenny-Caffey syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "Kenny-Caffey syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "name": "dwarfism, cortical thickening of tubular bones and transient hypocalcemia",
            "description": ""
        },
        {
            "id": "MIM:127000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/127000",
            "name": "Kenny-Caffey syndrome 2",
            "description": "Kenny-Caffey syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080723"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080723",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080723",
            "categories": []
        },
        {
            "id": "MONDO:0007478",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007478",
            "categories": []
        },
        {
            "id": "MIM:127000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/127000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JNH5-1",
            "uniprot_ac": "A0AC58JNH5",
            "uniprot_id": "A0AC58JNH5_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease FAM111A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fam111.2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0AC58JNH5-1",
            "evidence": [
                {
                    "id": "0080723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080723"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BD64-1",
            "uniprot_ac": "A0A8M2BD64",
            "uniprot_id": "A0A8M2BD64_DANRE",
            "refseq_ac": "NP_001427840",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease FAM111A isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 111.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fam111.1",
                    "type": "recommended"
                },
                {
                    "name": "fam111.1",
                    "type": "synonym"
                },
                {
                    "name": "fam111.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BD64-1",
            "evidence": [
                {
                    "id": "0080723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080723"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D2L9-1",
            "uniprot_ac": "Q9D2L9",
            "uniprot_id": "F111A_MOUSE",
            "refseq_ac": "NP_001333474",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease FAM111A",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM111A",
                    "type": "synonym"
                },
                {
                    "name": "serine protease FAM111A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine protease FAM111A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fam111a",
                    "type": "recommended"
                },
                {
                    "name": "4632417K18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fam111a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D2L9-1",
            "evidence": [
                {
                    "id": "0080723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080723"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96PZ2-1",
            "uniprot_ac": "Q96PZ2",
            "uniprot_id": "F111A_HUMAN",
            "refseq_ac": "NP_001135991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease FAM111A",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 111 member A",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM111A",
                    "type": "synonym"
                },
                {
                    "name": "serine protease FAM111A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAM111A",
                    "type": "recommended"
                },
                {
                    "name": "FAM111A",
                    "type": "synonym"
                },
                {
                    "name": "GCLEB",
                    "type": "synonym"
                },
                {
                    "name": "KCS2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1895",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96PZ2-1",
            "evidence": [
                {
                    "id": "127000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/127000"
                },
                {
                    "id": "0080723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080723"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A8N0-1",
            "uniprot_ac": "D4A8N0",
            "uniprot_id": "D4A8N0_RAT",
            "refseq_ac": "NP_001102633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAM111 trypsin like peptidase A",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 111, member A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fam111a",
                    "type": "recommended"
                },
                {
                    "name": "Fam111a",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560913",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A8N0-1",
            "evidence": [
                {
                    "id": "0080723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080723"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AL46-1",
            "uniprot_ac": "A0A8I6AL46",
            "uniprot_id": "A0A8I6AL46_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": "FAM111 trypsin like peptidase A like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fam111al1",
                    "type": "recommended"
                },
                {
                    "name": "LOC691074",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AL46-1",
            "evidence": [
                {
                    "id": "0080723",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080723"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080723"
}