{
    "disease_id": "DOID:0090144",
    "recommended_name": {
        "id": "DOID:0090144",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090144",
        "name": "Donnai-Barrow syndrome",
        "description": "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "syndrome of ocular and facial anomalies, telecanthus and deafness",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "DBS/FOAR syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "FOAR syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "Holmes-Schepens syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "facio-oculo-acoustico-renal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "faciooculoacousticorenal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "diaphragmatic hernia-exomphalos-hypertelorism syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "Donnai-Barrow syndrome",
            "description": "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common."
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "DBS/FOAR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "Donnai-Barrow syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "FOAR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "Holmes-Schepens syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "diaphragmatic hernia-exomphalos-hypertelorism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "facio-oculo-acoustico-renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "faciooculoacousticorenal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "syndrome of ocular and facial anomalies, telecanthus and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria",
            "description": ""
        },
        {
            "id": "MIM:222448",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222448",
            "name": "Donnai-Barrow syndrome",
            "description": "Donnai-Barrow syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090144"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090144",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "categories": []
        },
        {
            "id": "MONDO:0009104",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "categories": []
        },
        {
            "id": "MIM:222448",
            "database": "MIM",
            "url": "https://www.omim.org/entry/222448",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q8X3-1",
            "uniprot_ac": "A0A8M9Q8X3",
            "uniprot_id": "A0A8M9Q8X3_DANRE",
            "refseq_ac": "XP_021335953",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Glycoprotein 330",
                    "type": "synonym"
                },
                {
                    "name": "Megalin",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrp2b",
                    "type": "recommended"
                },
                {
                    "name": "lrp2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q8X3-1",
            "evidence": [
                {
                    "id": "0090144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NV12-1",
            "uniprot_ac": "A0A8M1NV12",
            "uniprot_id": "A0A8M1NV12_DANRE",
            "refseq_ac": "NP_001181916",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Glycoprotein 330",
                    "type": "synonym"
                },
                {
                    "name": "Megalin",
                    "type": "synonym"
                },
                {
                    "name": "gp330b",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 2a precursor",
                    "type": "synonym"
                },
                {
                    "name": "megalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrp2a",
                    "type": "recommended"
                },
                {
                    "name": "im:680590",
                    "type": "synonym"
                },
                {
                    "name": "lrp2a",
                    "type": "synonym"
                },
                {
                    "name": "lrp2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NV12-1",
            "evidence": [
                {
                    "id": "0090144",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2ARV4-1",
            "uniprot_ac": "A2ARV4",
            "uniprot_id": "LRP2_MOUSE",
            "refseq_ac": "NP_001074557",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Glycoprotein 330",
                    "type": "synonym"
                },
                {
                    "name": "LRP-2",
                    "type": "synonym"
                },
                {
                    "name": "Megalin",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 330",
                    "type": "synonym"
                },
                {
                    "name": "gp330",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp2",
                    "type": "recommended"
                },
                {
                    "name": "D230004K18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gp330",
                    "type": "synonym"
                },
                {
                    "name": "Lrp2",
                    "type": "synonym"
                },
                {
                    "name": "Megalin",
                    "type": "synonym"
                },
                {
                    "name": "b2b1625.2Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "A2ARV4-1",
            "evidence": [
                {
                    "id": "0090144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98164-1",
            "uniprot_ac": "P98164",
            "uniprot_id": "LRP2_HUMAN",
            "refseq_ac": "NP_004516",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Glycoprotein 330",
                    "type": "synonym"
                },
                {
                    "name": "Heymann nephritis antigen homolog",
                    "type": "synonym"
                },
                {
                    "name": "LRP-2",
                    "type": "synonym"
                },
                {
                    "name": "Megalin",
                    "type": "synonym"
                },
                {
                    "name": "calcium sensor protein",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 330",
                    "type": "synonym"
                },
                {
                    "name": "gp330",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "megalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP2",
                    "type": "recommended"
                },
                {
                    "name": "DBS",
                    "type": "synonym"
                },
                {
                    "name": "GP330",
                    "type": "synonym"
                },
                {
                    "name": "LRP-2",
                    "type": "synonym"
                },
                {
                    "name": "LRP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P98164-1",
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                {
                    "id": "222448",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/222448"
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                {
                    "id": "0090144",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98158-1",
            "uniprot_ac": "P98158",
            "uniprot_id": "LRP2_RAT",
            "refseq_ac": "NP_110454",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Glycoprotein 330",
                    "type": "synonym"
                },
                {
                    "name": "LRP-2",
                    "type": "synonym"
                },
                {
                    "name": "Megalin",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 330",
                    "type": "synonym"
                },
                {
                    "name": "gp330",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "megalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp2",
                    "type": "recommended"
                },
                {
                    "name": "Lrp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P98158-1",
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                {
                    "id": "0090144",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JTM7-1",
            "uniprot_ac": "A8JTM7",
            "uniprot_id": "A8JTM7_DROME",
            "refseq_ac": "NP_001096924",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42611-PA",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Megalin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Megalin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Megalin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Megalin, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "megalin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "mgl-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mgl",
                    "type": "recommended"
                },
                {
                    "name": "CG12139",
                    "type": "synonym"
                },
                {
                    "name": "CG12654",
                    "type": "synonym"
                },
                {
                    "name": "CG15316",
                    "type": "synonym"
                },
                {
                    "name": "CG34339",
                    "type": "synonym"
                },
                {
                    "name": "CG34352",
                    "type": "synonym"
                },
                {
                    "name": "CG42611",
                    "type": "synonym"
                },
                {
                    "name": "CT7830",
                    "type": "synonym"
                },
                {
                    "name": "Dm CG34352",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42611",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42611",
                    "type": "synonym"
                },
                {
                    "name": "LDLR",
                    "type": "synonym"
                },
                {
                    "name": "LRP-2",
                    "type": "synonym"
                },
                {
                    "name": "Megalin",
                    "type": "synonym"
                },
                {
                    "name": "Mgl",
                    "type": "synonym"
                },
                {
                    "name": "SOSIE",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.108",
                    "type": "synonym"
                },
                {
                    "name": "lrp2",
                    "type": "synonym"
                },
                {
                    "name": "megalin",
                    "type": "synonym"
                },
                {
                    "name": "mgl",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JTM7-1",
            "evidence": [
                {
                    "id": "0090144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090144"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090144"
}