{
    "disease_id": "DOID:0060641",
    "recommended_name": {
        "id": "DOID:0060641",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060641",
        "name": "endocrine-cerebro-osteodysplasia syndrome",
        "description": "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase."
    },
    "synonyms": [
        {
            "id": "DOID:0060641",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060641",
            "name": "ECO syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012980",
            "name": "endocrine-cerebro-osteodysplasia syndrome",
            "description": "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality."
        },
        {
            "id": "MONDO:0012980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012980",
            "name": "ECO syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012980",
            "name": "ECO",
            "description": ""
        },
        {
            "id": "MONDO:0012980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012980",
            "name": "endocrine-CEREBROOSTEODYSPLASIA",
            "description": ""
        },
        {
            "id": "MIM:612651",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612651",
            "name": "Endocrine-cerebroosteodysplasia",
            "description": "Endocrine-cerebroosteodysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060641"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060641",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060641",
            "categories": []
        },
        {
            "id": "MONDO:0012980",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012980",
            "categories": []
        },
        {
            "id": "MIM:612651",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612651",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JKV2-1",
            "uniprot_ac": "Q9JKV2",
            "uniprot_id": "CILK1_MOUSE",
            "refseq_ac": "NP_001157252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase ICK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "MAK-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "MRK",
                    "type": "synonym"
                },
                {
                    "name": "intestinal cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "mICK",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase ICK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cilk1",
                    "type": "recommended"
                },
                {
                    "name": "2210420N10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cilk1",
                    "type": "synonym"
                },
                {
                    "name": "Ick",
                    "type": "synonym"
                },
                {
                    "name": "Mrk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKV2-1",
            "evidence": [
                {
                    "id": "0060641",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060641"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UPZ9-1",
            "uniprot_ac": "Q9UPZ9",
            "uniprot_id": "CILK1_HUMAN",
            "refseq_ac": "NP_055735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase ICK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Ciliogenesis associated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "LCK2",
                    "type": "synonym"
                },
                {
                    "name": "Laryngeal cancer kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "MAK-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "MRK",
                    "type": "synonym"
                },
                {
                    "name": "hICK",
                    "type": "synonym"
                },
                {
                    "name": "iciliogenesis associated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "intestinal cell (MAK-like) kinase",
                    "type": "synonym"
                },
                {
                    "name": "intestinal cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "laryngeal cancer kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase ICK isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase ICK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CILK1",
                    "type": "recommended"
                },
                {
                    "name": "CED6",
                    "type": "synonym"
                },
                {
                    "name": "CILK1",
                    "type": "synonym"
                },
                {
                    "name": "ECO",
                    "type": "synonym"
                },
                {
                    "name": "EJM10",
                    "type": "synonym"
                },
                {
                    "name": "ICK",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0936",
                    "type": "synonym"
                },
                {
                    "name": "LCK2",
                    "type": "synonym"
                },
                {
                    "name": "MRK",
                    "type": "synonym"
                },
                {
                    "name": "hICK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UPZ9-1",
            "evidence": [
                {
                    "id": "612651",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612651"
                },
                {
                    "id": "0060641",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060641"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32581-1",
            "uniprot_ac": "P32581",
            "uniprot_id": "IME2_YEAST",
            "refseq_ac": "NP_012429",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meiosis induction protein kinase IME2/SME1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase IME2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IME2",
                    "type": "recommended"
                },
                {
                    "name": "IME2",
                    "type": "synonym"
                },
                {
                    "name": "J0817",
                    "type": "synonym"
                },
                {
                    "name": "SME1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32581-1",
            "evidence": [
                {
                    "id": "0060641",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060641"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62726-1",
            "uniprot_ac": "Q62726",
            "uniprot_id": "CILK1_RAT",
            "refseq_ac": "NP_620241",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase ICK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "MAK-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "MRK",
                    "type": "synonym"
                },
                {
                    "name": "heart serine-threonine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "intestinal cell (MAK-like) kinase",
                    "type": "synonym"
                },
                {
                    "name": "intestinal cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase ICK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cilk1",
                    "type": "recommended"
                },
                {
                    "name": "Cilk1",
                    "type": "synonym"
                },
                {
                    "name": "Ick",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62726-1",
            "evidence": [
                {
                    "id": "0060641",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060641"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL64-1",
            "uniprot_ac": "Q9VL64",
            "uniprot_id": "Q9VL64_DROME",
            "refseq_ac": "NP_723501",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG42366-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IME2",
                    "type": "recommended"
                },
                {
                    "name": "CG31711",
                    "type": "synonym"
                },
                {
                    "name": "CG31878",
                    "type": "synonym"
                },
                {
                    "name": "CG42366",
                    "type": "synonym"
                },
                {
                    "name": "CG4588",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42366",
                    "type": "synonym"
                },
                {
                    "name": "IME2",
                    "type": "synonym"
                },
                {
                    "name": "MAK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL64-1",
            "evidence": [
                {
                    "id": "0060641",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060641"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060641"
}