{
    "disease_id": "DOID:0060807",
    "recommended_name": {
        "id": "DOID:0060807",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060807",
        "name": "syndromic X-linked intellectual disability Najm type",
        "description": "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0060807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060807",
            "name": "mental retardation and microcephaly with pontine and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "DOID:0060807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060807",
            "name": "MICPCH",
            "description": ""
        },
        {
            "id": "DOID:0060807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060807",
            "name": "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "syndromic X-linked intellectual disability Najm type",
            "description": "A rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development."
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "MICPCH",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "MICPCH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "intellectual disability and microcephaly with pontine and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "mental retardation and microcephaly with pontine and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "mental retardation, X-linked, syndromic, Najm type",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "syndromic X-linked intellectual disability Najm type",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "name": "microcephaly with pontine and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MIM:300749",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300749",
            "name": "Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia",
            "description": "Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060807"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060807",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060807",
            "categories": []
        },
        {
            "id": "MONDO:0010417",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010417",
            "categories": []
        },
        {
            "id": "MIM:300749",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300749",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0A8M6Z057",
            "uniprot_id": "A0A8M6Z057_DANRE",
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                    "taxid": 7955,
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                }
            ],
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                    "name": "Peripheral plasma membrane protein CASK",
                    "type": "recommended"
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                {
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                }
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                    "name": "caska",
                    "type": "recommended"
                },
                {
                    "name": "caska",
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                },
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                {
                    "name": "wu:fb70g06",
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                }
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        },
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                }
            ],
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                },
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                    "type": "synonym"
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                    "type": "synonym"
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                {
                    "name": "csnk1dl",
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                {
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                },
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                    "name": "zgc:63971",
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                    "id": "0060807",
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            ]
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                }
            ],
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                    "name": "Casein kinase I isoform delta-B",
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            ],
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                    "name": "csnk1db",
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                    "id": "0060807",
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                }
            ],
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                    "type": "synonym"
                },
                {
                    "name": "Ribosomal protein L10",
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                {
                    "name": "associated with tumor suppression, cell growth, differentiation, development and apoptosis",
                    "type": "synonym"
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                {
                    "name": "large ribosomal subunit protein uL16",
                    "type": "synonym"
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                }
            ],
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                    "name": "rpl10",
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                },
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                },
                {
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                    "name": "fa93d03",
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                },
                {
                    "name": "rpl10",
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                {
                    "name": "wu:fa93d03",
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                {
                    "name": "zgc:56154",
                    "type": "synonym"
                }
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                    "id": "0060807",
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        },
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            "uniprot_canonical_ac": "O70589-1",
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                }
            ],
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                {
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                {
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                    "name": "Lin-2",
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                    "name": "tau",
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                    "id": "0060807",
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            ],
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                {
                    "name": "Large ribosomal subunit protein uL16-like",
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                {
                    "name": "60S ribosomal protein L10-like",
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                    "name": "Rpl10l",
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                {
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                    "id": "0060807",
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                {
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                    "id": "0060807",
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                    "name": "CASK ortholog",
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                {
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                    "name": "CG6703-PD",
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                    "name": "Calcium/calmodulin-dependent protein kinase",
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                {
                    "name": "calmodulin-dependent kinase",
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                {
                    "name": "camguk",
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                {
                    "name": "dCASK",
                    "type": "synonym"
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            ],
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                    "name": "CASK",
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                    "name": "CAKI",
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                    "name": "CAMGUK",
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                {
                    "name": "CASK-beta",
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                    "name": "CASK",
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                    "name": "CG13412",
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                {
                    "name": "CG13413",
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                    "name": "CG6703",
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                    "name": "CMG/CASK",
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                    "name": "CMG",
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                    "name": "CaSK",
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                    "name": "Caki",
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                {
                    "name": "CamGUK",
                    "type": "synonym"
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                    "name": "CamguK",
                    "type": "synonym"
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                {
                    "name": "Camguk",
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                    "name": "Cask",
                    "type": "synonym"
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                    "name": "Cmg",
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                    "name": "DLin-2",
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                {
                    "name": "Dmel\\CG6703",
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                    "name": "RE09582p",
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                    "name": "caki",
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                    "name": "camguk",
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                    "name": "cask",
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                {
                    "name": "cmg",
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                {
                    "name": "dCASK",
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                    "id": "0060807",
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                    "name": "Discs overgrown protein kinase",
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                {
                    "name": "CG2048-PD",
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                {
                    "name": "Protein double-time",
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                    "name": "casein kinase 1",
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                    "name": "casein kinase I epsilon",
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                {
                    "name": "casein kinase iepsilon",
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                {
                    "name": "dco-PD",
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                {
                    "name": "disc overgrown",
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                {
                    "name": "discs overgrown, isoform D",
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                {
                    "name": "discs overgrown",
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                {
                    "name": "double time",
                    "type": "synonym"
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                {
                    "name": "double-time",
                    "type": "synonym"
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                {
                    "name": "doubletime",
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                    "name": "dco",
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                    "name": "01",
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                    "name": "02",
                    "type": "synonym"
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                {
                    "name": "0538/13",
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                {
                    "name": "0915/10",
                    "type": "synonym"
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                {
                    "name": "09",
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                {
                    "name": "10",
                    "type": "synonym"
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                {
                    "name": "1396/02",
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                    "name": "13",
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                {
                    "name": "1447/01",
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                    "name": "1460/09",
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                    "name": "CG2048",
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                    "name": "CK1delta/epsilon",
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                {
                    "name": "CK1epsilon",
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                    "name": "CK1",
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                    "name": "CKIepsilon",
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                    "name": "CKIe",
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                    "name": "DBT/CK1epsilon",
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                    "name": "DBT",
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                    "name": "ck1epsilon",
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                    "name": "dCKIepsilon",
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                    "name": "dbt",
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                    "name": "ddbt",
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                    "name": "l(3)S144701",
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                    "name": "l(3)rK215",
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    "biomarkers": [],
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}