{
    "disease_id": "DOID:0080950",
    "recommended_name": {
        "id": "DOID:0080950",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080950",
        "name": "alopecia-mental retardation syndrome 4",
        "description": "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0030009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030009",
            "name": "alopecia-intellectual disability syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0030009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030009",
            "name": "ALOPECIA-MENTAL RETARDATION SYNDROME 4",
            "description": ""
        },
        {
            "id": "MONDO:0030009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030009",
            "name": "APMR4",
            "description": ""
        },
        {
            "id": "MONDO:0030009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030009",
            "name": "alopecia-intellectual disability syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0030009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030009",
            "name": "alopecia-mental retardation syndrome 4",
            "description": ""
        },
        {
            "id": "MIM:618840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618840",
            "name": "Alopecia-intellectual disability syndrome 4",
            "description": "Alopecia-intellectual disability syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080950"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080950",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080950",
            "categories": []
        },
        {
            "id": "MONDO:0030009",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030009",
            "categories": []
        },
        {
            "id": "MIM:618840",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618840",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BLN5-1",
            "uniprot_ac": "Q8BLN5",
            "uniprot_id": "LSS_MOUSE",
            "refseq_ac": "NP_666118",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lanosterol synthase",
                    "type": "recommended"
                },
                {
                    "name": "2,3-epoxysqualene--lanosterol cyclase",
                    "type": "synonym"
                },
                {
                    "name": "5.4.99.7",
                    "type": "synonym"
                },
                {
                    "name": "OSC",
                    "type": "synonym"
                },
                {
                    "name": "Oxidosqualene--lanosterol cyclase",
                    "type": "synonym"
                },
                {
                    "name": "lanosterol synthase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "oxidosqualene--lanosterol cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lss",
                    "type": "recommended"
                },
                {
                    "name": "2810025N20Rik",
                    "type": "synonym"
                },
                {
                    "name": "D10Ertd116e",
                    "type": "synonym"
                },
                {
                    "name": "Lss",
                    "type": "synonym"
                },
                {
                    "name": "Osc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BLN5-1",
            "evidence": [
                {
                    "id": "0080950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48449-1",
            "uniprot_ac": "P48449",
            "uniprot_id": "LSS_HUMAN",
            "refseq_ac": "NP_001001438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lanosterol synthase",
                    "type": "recommended"
                },
                {
                    "name": "2,3-epoxysqualene--lanosterol cyclase",
                    "type": "synonym"
                },
                {
                    "name": "2,3-epoxysqualene-lanosterol cyclase",
                    "type": "synonym"
                },
                {
                    "name": "5.4.99.7",
                    "type": "synonym"
                },
                {
                    "name": "OSC",
                    "type": "synonym"
                },
                {
                    "name": "Oxidosqualene--lanosterol cyclase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "hOSC",
                    "type": "synonym"
                },
                {
                    "name": "lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)",
                    "type": "synonym"
                },
                {
                    "name": "lanosterol synthase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "oxidosqualene--lanosterol cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LSS",
                    "type": "recommended"
                },
                {
                    "name": "APMR4",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT44",
                    "type": "synonym"
                },
                {
                    "name": "HYPT14",
                    "type": "synonym"
                },
                {
                    "name": "LSS",
                    "type": "synonym"
                },
                {
                    "name": "OSC",
                    "type": "synonym"
                }
            ],
            "record_id": "P48449-1",
            "evidence": [
                {
                    "id": "618840",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618840"
                },
                {
                    "id": "0080950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38604-1",
            "uniprot_ac": "P38604",
            "uniprot_id": "ERG7_YEAST",
            "refseq_ac": "NP_011939",
            "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": "Lanosterol synthase ERG7",
                    "type": "recommended"
                },
                {
                    "name": "2,3-epoxysqualene--lanosterol cyclase ERG7",
                    "type": "synonym"
                },
                {
                    "name": "5.4.99.7",
                    "type": "synonym"
                },
                {
                    "name": "Ergosterol biosynthetic protein 7",
                    "type": "synonym"
                },
                {
                    "name": "OSC",
                    "type": "synonym"
                },
                {
                    "name": "Oxidosqualene--lanosterol cyclase ERG7",
                    "type": "synonym"
                },
                {
                    "name": "lanosterol synthase ERG7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERG7",
                    "type": "recommended"
                },
                {
                    "name": "ERG7",
                    "type": "synonym"
                }
            ],
            "record_id": "P38604-1",
            "evidence": [
                {
                    "id": "0080950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48450-1",
            "uniprot_ac": "P48450",
            "uniprot_id": "LSS_RAT",
            "refseq_ac": "NP_112311",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lanosterol synthase",
                    "type": "recommended"
                },
                {
                    "name": "2,3-epoxysqualene--lanosterol cyclase",
                    "type": "synonym"
                },
                {
                    "name": "2,3-oxidosqualene: lanosterol cyclase",
                    "type": "synonym"
                },
                {
                    "name": "5.4.99.7",
                    "type": "synonym"
                },
                {
                    "name": "OSC",
                    "type": "synonym"
                },
                {
                    "name": "Oxidosqualene--lanosterol cyclase",
                    "type": "synonym"
                },
                {
                    "name": "lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)",
                    "type": "synonym"
                },
                {
                    "name": "lanosterol synthase",
                    "type": "synonym"
                },
                {
                    "name": "oxidosqualene--lanosterol cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lss",
                    "type": "recommended"
                },
                {
                    "name": "Spatc1l",
                    "type": "recommended"
                },
                {
                    "name": "Lss",
                    "type": "synonym"
                },
                {
                    "name": "Osc",
                    "type": "synonym"
                },
                {
                    "name": "Spatc1l",
                    "type": "synonym"
                }
            ],
            "record_id": "P48450-1",
            "evidence": [
                {
                    "id": "0080950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080950"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080950"
}