{
    "disease_id": "DOID:0061297",
    "recommended_name": {
        "id": "DOID:0061297",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061297",
        "name": "Meckel syndrome 12",
        "description": "A Meckel syndrome that has_material_basis_in a compound heterozygous mutation in the KIF14 gene on chromosome 1q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0014552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014552",
            "name": "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome",
            "description": "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise."
        },
        {
            "id": "MONDO:0014552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014552",
            "name": "Meckel syndrome type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014552",
            "name": "MKS12",
            "description": ""
        },
        {
            "id": "MONDO:0014552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014552",
            "name": "Meckel syndrome 12",
            "description": ""
        },
        {
            "id": "MIM:616258",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616258",
            "name": "Meckel syndrome 12",
            "description": "Meckel syndrome 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061297"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061297",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061297",
            "categories": []
        },
        {
            "id": "MONDO:0014552",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014552",
            "categories": []
        },
        {
            "id": "MIM:616258",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616258",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q15058-1",
            "uniprot_ac": "Q15058",
            "uniprot_id": "KIF14_HUMAN",
            "refseq_ac": "NP_001292721",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF14",
                    "type": "recommended"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF14 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF14",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0042",
                    "type": "synonym"
                },
                {
                    "name": "KIF14",
                    "type": "synonym"
                },
                {
                    "name": "MCPH20",
                    "type": "synonym"
                },
                {
                    "name": "MKS12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15058-1",
            "evidence": [
                {
                    "id": "616258",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616258"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061297"
}