{
    "disease_id": "DOID:0070523",
    "recommended_name": {
        "id": "DOID:0070523",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070523",
        "name": "peeling skin syndrome 4",
        "description": "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070523",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070523",
            "name": "PSS4",
            "description": ""
        },
        {
            "id": "DOID:0070523",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070523",
            "name": "ichthyosis bullosa of Siemens-like",
            "description": ""
        },
        {
            "id": "MONDO:0011937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011937",
            "name": "peeling skin syndrome 4",
            "description": "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene."
        },
        {
            "id": "MONDO:0011937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011937",
            "name": "CSTA peeling skin syndrome",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011937",
            "name": "peeling skin syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0011937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011937",
            "name": "peeling skin syndrome caused by mutation in CSTA",
            "description": ""
        },
        {
            "id": "MONDO:0011937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011937",
            "name": "peeling skin syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011937",
            "name": "PSS4",
            "description": ""
        },
        {
            "id": "MIM:607936",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607936",
            "name": "Peeling skin syndrome 4",
            "description": "Peeling skin syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070523"
    ],
    "unlinked_id_list": [],
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        {
            "id": "DOID:0070523",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070523",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0011937",
            "categories": []
        },
        {
            "id": "MIM:607936",
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            "url": "https://www.omim.org/entry/607936",
            "categories": []
        }
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                {
                    "name": "Stefin A2-like 3",
                    "type": "synonym"
                },
                {
                    "name": "stefin A2-like 3",
                    "type": "synonym"
                },
                {
                    "name": "stefin-2-like",
                    "type": "synonym"
                },
                {
                    "name": "stefin-3-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stfa2l3",
                    "type": "recommended"
                },
                {
                    "name": "Stfa2l3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L0K2-1",
            "evidence": [
                {
                    "id": "0070523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64654-1",
            "uniprot_ac": "Q64654",
            "uniprot_id": "CP51A_RAT",
            "refseq_ac": "NP_037073",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lanosterol 14-alpha demethylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.154",
                    "type": "synonym"
                },
                {
                    "name": "CYP51",
                    "type": "synonym"
                },
                {
                    "name": "CYPLI",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrom P450 Lanosterol 14 alpha-demethylase",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 51A1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450-14DM",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P45014DM",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450LI",
                    "type": "synonym"
                },
                {
                    "name": "LDM",
                    "type": "synonym"
                },
                {
                    "name": "P450-14DM",
                    "type": "synonym"
                },
                {
                    "name": "P45014DM",
                    "type": "synonym"
                },
                {
                    "name": "P450LI",
                    "type": "synonym"
                },
                {
                    "name": "Sterol 14-alpha demethylase P450",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 51A1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 Lanosterol 14 alpha-demethylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily 51",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-14DM",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P45014DM",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450LI",
                    "type": "synonym"
                },
                {
                    "name": "lanosterol 14-alpha demethylase",
                    "type": "synonym"
                },
                {
                    "name": "sterol 14-alpha demethylase P450",
                    "type": "synonym"
                },
                {
                    "name": "sterol 14-alpha demethylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp51a1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp51a1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp51",
                    "type": "synonym"
                },
                {
                    "name": "RATCP14DM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64654-1",
            "evidence": [
                {
                    "id": "0070523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070523"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070523"
}