{
    "disease_id": "DOID:0080380",
    "recommended_name": {
        "id": "DOID:0080380",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080380",
        "name": "nephrotic syndrome type 5",
        "description": "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p."
    },
    "synonyms": [
        {
            "id": "DOID:0080380",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080380",
            "name": "nephrotic syndrome type 5, with or without ocular abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0013621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013621",
            "name": "LAMB2-related infantile-onset nephrotic syndrome",
            "description": "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal."
        },
        {
            "id": "MONDO:0013621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013621",
            "name": "mesangial sclerosis, diffuse renal, with ocular abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0013621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013621",
            "name": "NPHS5",
            "description": ""
        },
        {
            "id": "MONDO:0013621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013621",
            "name": "nephrotic syndrome, type 5, with or without ocular abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0013621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013621",
            "name": "LAMB2-related infantile-onset nephrotic syndrome",
            "description": "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal."
        },
        {
            "id": "MONDO:0013621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013621",
            "name": "mesangial sclerosis, diffuse renal, with ocular abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0013621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013621",
            "name": "NPHS5",
            "description": ""
        },
        {
            "id": "MONDO:0013621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013621",
            "name": "nephrotic syndrome, type 5, with or without ocular abnormalities",
            "description": ""
        },
        {
            "id": "MIM:614199",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614199",
            "name": "Nephrotic syndrome 5, with or without ocular abnormalities",
            "description": "Nephrotic syndrome 5, with or without ocular abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080380"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080380",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080380",
            "categories": []
        },
        {
            "id": "MONDO:0013621",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013621",
            "categories": []
        },
        {
            "id": "MIM:614199",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614199",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B8V2-1",
            "uniprot_ac": "A0A8M2B8V2",
            "uniprot_id": "A0A8M2B8V2_DANRE",
            "refseq_ac": "XP_005162102",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit beta-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lamb2",
                    "type": "recommended"
                },
                {
                    "name": "lamb2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-32e6.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B8V2-1",
            "evidence": [
                {
                    "id": "0080380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61292-1",
            "uniprot_ac": "Q61292",
            "uniprot_id": "LAMB2_MOUSE",
            "refseq_ac": "NP_032509",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "Laminin S",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-11 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-14 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-15 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-3 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-4 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-7 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-9 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "S-LAM beta",
                    "type": "synonym"
                },
                {
                    "name": "S-laminin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "laminin-11 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-14 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-15 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-3 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-4 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-7 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-9 subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lamb2",
                    "type": "recommended"
                },
                {
                    "name": "Lamb-2",
                    "type": "synonym"
                },
                {
                    "name": "Lamb2",
                    "type": "synonym"
                },
                {
                    "name": "Lams",
                    "type": "synonym"
                },
                {
                    "name": "npht",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61292-1",
            "evidence": [
                {
                    "id": "0080380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55268-1",
            "uniprot_ac": "P55268",
            "uniprot_id": "LAMB2_HUMAN",
            "refseq_ac": "NP_002283",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "Laminin B1s chain",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-11 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-14 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-15 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-3 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-4 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-7 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-9 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "S-LAM beta",
                    "type": "synonym"
                },
                {
                    "name": "S-laminin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin B1s chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin S",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin, beta 2 (laminin S)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAMB2",
                    "type": "recommended"
                },
                {
                    "name": "LAMB2",
                    "type": "synonym"
                },
                {
                    "name": "LAMS",
                    "type": "synonym"
                },
                {
                    "name": "NPHS5",
                    "type": "synonym"
                },
                {
                    "name": "PIERS",
                    "type": "synonym"
                }
            ],
            "record_id": "P55268-1",
            "evidence": [
                {
                    "id": "614199",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614199"
                },
                {
                    "id": "0080380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15800-1",
            "uniprot_ac": "P15800",
            "uniprot_id": "LAMB2_RAT",
            "refseq_ac": "NP_037106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "Laminin chain B3",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-11 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-14 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-15 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-3 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-4 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-7 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-9 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "S-LAM beta",
                    "type": "synonym"
                },
                {
                    "name": "S-laminin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin chain B3",
                    "type": "synonym"
                },
                {
                    "name": "laminin chain beta 2",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin, beta 2",
                    "type": "synonym"
                },
                {
                    "name": "laminin-11 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-14 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-15 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-3 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-4 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-7 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-9 subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lamb2",
                    "type": "recommended"
                },
                {
                    "name": "Lamb2",
                    "type": "synonym"
                },
                {
                    "name": "SLAM",
                    "type": "synonym"
                }
            ],
            "record_id": "P15800-1",
            "evidence": [
                {
                    "id": "0080380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92608-1",
            "uniprot_ac": "Q92608",
            "uniprot_id": "DOCK2_HUMAN",
            "refseq_ac": "NP_004937",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 2",
                    "type": "recommended"
                },
                {
                    "name": "dedicator of cyto-kinesis 2",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DOCK2",
                    "type": "recommended"
                },
                {
                    "name": "DOCK2",
                    "type": "synonym"
                },
                {
                    "name": "IMD40",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0209",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92608-1",
            "evidence": [
                {
                    "id": "0080380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080380"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080380"
}