{
    "disease_id": "DOID:0111898",
    "recommended_name": {
        "id": "DOID:0111898",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111898",
        "name": "CK syndrome",
        "description": "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111898",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111898",
            "name": "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010441",
            "name": "CK syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010441",
            "name": "CK syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010441",
            "name": "CK syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010441",
            "name": "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010441",
            "name": "mental retardation, X-linked, with thin body habitus and cortical malformation",
            "description": ""
        },
        {
            "id": "MIM:300831",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300831",
            "name": "CK syndrome",
            "description": "CK syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111898"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111898",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111898",
            "categories": []
        },
        {
            "id": "MONDO:0010441",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010441",
            "categories": []
        },
        {
            "id": "MIM:300831",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300831",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R1J0-1",
            "uniprot_ac": "Q9R1J0",
            "uniprot_id": "NSDHL_MOUSE",
            "refseq_ac": "NP_035071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.170",
                    "type": "synonym"
                },
                {
                    "name": "NAD(P)-dependent steroid dehydrogenase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "bare patches",
                    "type": "synonym"
                },
                {
                    "name": "sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating",
                    "type": "synonym"
                },
                {
                    "name": "striated",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsdhl",
                    "type": "recommended"
                },
                {
                    "name": "Bpa",
                    "type": "synonym"
                },
                {
                    "name": "H105E3",
                    "type": "synonym"
                },
                {
                    "name": "Nsdhl",
                    "type": "synonym"
                },
                {
                    "name": "Str",
                    "type": "synonym"
                },
                {
                    "name": "XAP104",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1J0-1",
            "evidence": [
                {
                    "id": "0111898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111898"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15738-1",
            "uniprot_ac": "Q15738",
            "uniprot_id": "NSDHL_HUMAN",
            "refseq_ac": "NP_001123237",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.170",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysteroid dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)",
                    "type": "synonym"
                },
                {
                    "name": "NAD(P) dependent steroid dehydrogenase-like protein transcript",
                    "type": "synonym"
                },
                {
                    "name": "Protein H105e3",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein H105e3",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 31E, member 1",
                    "type": "synonym"
                },
                {
                    "name": "sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSDHL",
                    "type": "recommended"
                },
                {
                    "name": "H105E3",
                    "type": "synonym"
                },
                {
                    "name": "NSDHL",
                    "type": "synonym"
                },
                {
                    "name": "SDR31E1",
                    "type": "synonym"
                },
                {
                    "name": "XAP104",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15738-1",
            "evidence": [
                {
                    "id": "300831",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300831"
                },
                {
                    "id": "0111898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111898"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53199-1",
            "uniprot_ac": "P53199",
            "uniprot_id": "ERG26_YEAST",
            "refseq_ac": "NP_011514",
            "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": "Sterol-4-alpha-carboxylate 3-dehydrogenase ERG26, decarboxylating",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.170",
                    "type": "synonym"
                },
                {
                    "name": "C-3 sterol dehydrogenase ERG26",
                    "type": "synonym"
                },
                {
                    "name": "C-4 decarboxylase ERG26",
                    "type": "synonym"
                },
                {
                    "name": "Ergosterol biosynthetic protein 26",
                    "type": "synonym"
                },
                {
                    "name": "sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERG26",
                    "type": "recommended"
                },
                {
                    "name": "ERG26",
                    "type": "synonym"
                }
            ],
            "record_id": "P53199-1",
            "evidence": [
                {
                    "id": "0111898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111898"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PPL3-1",
            "uniprot_ac": "Q5PPL3",
            "uniprot_id": "NSDHL_RAT",
            "refseq_ac": "NP_001009399",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.170",
                    "type": "synonym"
                },
                {
                    "name": "NAD(P) dependent steroid dehydrogenase-like",
                    "type": "synonym"
                },
                {
                    "name": "sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsdhl",
                    "type": "recommended"
                },
                {
                    "name": "Nsdhl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PPL3-1",
            "evidence": [
                {
                    "id": "0111898",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111898"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111898"
}