{
    "disease_id": "DOID:0060852",
    "recommended_name": {
        "id": "DOID:0060852",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060852",
        "name": "Pierson syndrome",
        "description": "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060852",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060852",
            "name": "microcoria-congenital nephrosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "Pierson syndrome",
            "description": "Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria."
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "Pierson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "microcoria-congenital nephrosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "microcoria - congenital nephrosis",
            "description": ""
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "microcoria - congenital nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MIM:609049",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609049",
            "name": "Pierson syndrome",
            "description": "Pierson syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060852"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060852",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060852",
            "categories": []
        },
        {
            "id": "MONDO:0012184",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "categories": []
        },
        {
            "id": "MIM:609049",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609049",
            "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": "0060852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PL00-1",
            "uniprot_ac": "A0A8M9PL00",
            "uniprot_id": "A0A8M9PL00_DANRE",
            "refseq_ac": "XP_021325579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tensin-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tensin-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tns2a",
                    "type": "recommended"
                },
                {
                    "name": "tns2a",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PKG9-1",
            "uniprot_ac": "A0A8M9PKG9",
            "uniprot_id": "A0A8M9PKG9_DANRE",
            "refseq_ac": "XP_021327488",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tensin-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tensin-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tns2b",
                    "type": "recommended"
                },
                {
                    "name": "tns2b",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060852"
                }
            ]
        },
        {
            "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": "0060852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CGB6-1",
            "uniprot_ac": "Q8CGB6",
            "uniprot_id": "TENS2_MOUSE",
            "refseq_ac": "NP_705761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tensin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "C1 domain-containing phosphatase and tensin homolog",
                    "type": "synonym"
                },
                {
                    "name": "C1 domain-containing phosphatase and tensin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "C1-TEN",
                    "type": "synonym"
                },
                {
                    "name": "Tensin-like C1 domain-containing phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "tensin-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tensin-like C1 domain-containing phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tns2",
                    "type": "recommended"
                },
                {
                    "name": "C1-ten",
                    "type": "synonym"
                },
                {
                    "name": "Tenc1",
                    "type": "synonym"
                },
                {
                    "name": "Tns2",
                    "type": "synonym"
                },
                {
                    "name": "nep",
                    "type": "synonym"
                },
                {
                    "name": "nph",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGB6-1",
            "evidence": [
                {
                    "id": "0060852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060852"
                }
            ]
        },
        {
            "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"
                }
            ],
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                {
                    "name": "LAMB2",
                    "type": "recommended"
                },
                {
                    "name": "LAMB2",
                    "type": "synonym"
                },
                {
                    "name": "LAMS",
                    "type": "synonym"
                },
                {
                    "name": "NPHS5",
                    "type": "synonym"
                },
                {
                    "name": "PIERS",
                    "type": "synonym"
                }
            ],
            "record_id": "P55268-1",
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                {
                    "id": "609049",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609049"
                },
                {
                    "id": "0060852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15800-1",
            "uniprot_ac": "P15800",
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            "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",
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                {
                    "name": "laminin subunit beta-2 precursor",
                    "type": "synonym"
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                {
                    "name": "laminin, beta 2",
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                    "name": "laminin-11 subunit beta",
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                    "name": "laminin-14 subunit beta",
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                {
                    "name": "laminin-15 subunit beta",
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                {
                    "name": "laminin-3 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-4 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-7 subunit beta",
                    "type": "synonym"
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                {
                    "name": "laminin-9 subunit beta",
                    "type": "synonym"
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            ],
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                    "name": "Lamb2",
                    "type": "recommended"
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                {
                    "name": "Lamb2",
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                },
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                    "name": "SLAM",
                    "type": "synonym"
                }
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                    "id": "0060852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060852"
                }
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            "uniprot_canonical_ac": "A0A8I6AQ81-1",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                    "name": "Tensin 2",
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                {
                    "name": "tensin-2 isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "Eif4b",
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                    "name": "Tenc1",
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                    "id": "0060852",
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                }
            ]
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            "uniprot_canonical_ac": "Q9VHC3-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "3R-B",
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                {
                    "name": "CG9379-PD",
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                    "name": "Protein blistery",
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                {
                    "name": "blistery, isoform D",
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                {
                    "name": "by-PD",
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                    "name": "tensin",
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                    "name": "BcDNA:RE65113",
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                    "name": "CG9379",
                    "type": "synonym"
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                    "name": "CT26639",
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                    "id": "0060852",
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                }
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            "uniprot_canonical_ac": "Q92608-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Dedicator of cytokinesis protein 2",
                    "type": "recommended"
                },
                {
                    "name": "dedicator of cyto-kinesis 2",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "DOCK2",
                    "type": "recommended"
                },
                {
                    "name": "DOCK2",
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                },
                {
                    "name": "IMD40",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0209",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63HR2-1",
            "uniprot_ac": "Q63HR2",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Tensin-2",
                    "type": "recommended"
                },
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                    "name": "3.1.3.48",
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                },
                {
                    "name": "C1 domain-containing phosphatase and tensin homolog",
                    "type": "synonym"
                },
                {
                    "name": "C1-TEN",
                    "type": "synonym"
                },
                {
                    "name": "Tensin-like C1 domain-containing phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "tensin like C1 domain containing phosphatase (tensin 2)",
                    "type": "synonym"
                },
                {
                    "name": "tensin-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tensin-like C1 domain-containing phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNS2",
                    "type": "recommended"
                },
                {
                    "name": "C1-TEN",
                    "type": "synonym"
                },
                {
                    "name": "C1TEN",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1075",
                    "type": "synonym"
                },
                {
                    "name": "TENC1",
                    "type": "synonym"
                },
                {
                    "name": "TNS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63HR2-1",
            "evidence": [
                {
                    "id": "0060852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060852"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060852"
}