{
    "disease_id": "DOID:0050656",
    "recommended_name": {
        "id": "DOID:0050656",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050656",
        "name": "pseudo-TORCH syndrome 1",
        "description": "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "microcephaly-intracranial calcification-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "bilateral band-like calcification with polymicrogyria",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "BLC-PMG",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "BLCPMG",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "Baraitser-Brett-Piesowicz syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "Baraitser-Reardon syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "PTORCH1",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "band-like calcification with simplified gyration and polymicrogyria",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "pseudo-TORCH syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "pseudo-TORCH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "PTORCH1",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "pseudo-TORCH syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "pseudo-TORCH syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:251290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251290",
            "name": "Pseudo-TORCH syndrome 1",
            "description": "Pseudo-TORCH syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050656"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050656",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "categories": []
        },
        {
            "id": "MONDO:0020789",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "categories": []
        },
        {
            "id": "MIM:251290",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251290",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R799-1",
            "uniprot_ac": "F1R799",
            "uniprot_id": "F1R799_DANRE",
            "refseq_ac": "NP_997997",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Occludin",
                    "type": "recommended"
                },
                {
                    "name": "occludin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "oclna",
                    "type": "recommended"
                },
                {
                    "name": "oclna",
                    "type": "synonym"
                },
                {
                    "name": "ocln",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd23h10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi13c01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113992",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56359",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R799-1",
            "evidence": [
                {
                    "id": "0050656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2BGQ3-1",
            "uniprot_ac": "A2BGQ3",
            "uniprot_id": "A2BGQ3_DANRE",
            "refseq_ac": "XP_005171901",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Occludin b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "occludin b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "oclnb",
                    "type": "recommended"
                },
                {
                    "name": "oclnb",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk83f10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101820",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BGQ3-1",
            "evidence": [
                {
                    "id": "0050656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61146-1",
            "uniprot_ac": "Q61146",
            "uniprot_id": "OCLN_MOUSE",
            "refseq_ac": "NP_032782",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Occludin",
                    "type": "recommended"
                },
                {
                    "name": "occludin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ocln",
                    "type": "recommended"
                },
                {
                    "name": "Ocln",
                    "type": "synonym"
                },
                {
                    "name": "Ocl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61146-1",
            "evidence": [
                {
                    "id": "0050656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16625-1",
            "uniprot_ac": "Q16625",
            "uniprot_id": "OCLN_HUMAN",
            "refseq_ac": "NP_001192183",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Occludin",
                    "type": "recommended"
                },
                {
                    "name": "occludin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase 1, regulatory subunit 115",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OCLN",
                    "type": "recommended"
                },
                {
                    "name": "BLCPMG",
                    "type": "synonym"
                },
                {
                    "name": "OCLN",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R115",
                    "type": "synonym"
                },
                {
                    "name": "PTORCH1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16625-1",
            "evidence": [
                {
                    "id": "251290",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251290"
                },
                {
                    "id": "0050656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LD49-1",
            "uniprot_ac": "A0ABK0LD49",
            "uniprot_id": "A0ABK0LD49_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MARVEL domain containing 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Marveld2",
                    "type": "recommended"
                },
                {
                    "name": "Ocln",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LD49-1",
            "evidence": [
                {
                    "id": "0050656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050656"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050656"
}