{
    "disease_id": "DOID:0060445",
    "recommended_name": {
        "id": "DOID:0060445",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060445",
        "name": "congenital stromal corneal dystrophy",
        "description": "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth."
    },
    "synonyms": [
        {
            "id": "DOID:0060445",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060445",
            "name": "CSCD",
            "description": ""
        },
        {
            "id": "DOID:0060445",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060445",
            "name": "congenital hereditary stromal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012401",
            "name": "congenital stromal corneal dystrophy",
            "description": "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss."
        },
        {
            "id": "MONDO:0012401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012401",
            "name": "CSCD",
            "description": ""
        },
        {
            "id": "MONDO:0012401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012401",
            "name": "Witschel dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012401",
            "name": "congenital hereditary stromal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012401",
            "name": "congenital stromal corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012401",
            "name": "corneal dystrophy, congenital stromal",
            "description": ""
        },
        {
            "id": "MIM:610048",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610048",
            "name": "Corneal dystrophy, congenital stromal",
            "description": "Corneal dystrophy, congenital stromal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060445"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060445",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060445",
            "categories": []
        },
        {
            "id": "MONDO:0012401",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012401",
            "categories": []
        },
        {
            "id": "MIM:610048",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610048",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P28654-1",
            "uniprot_ac": "P28654",
            "uniprot_id": "PGS2_MOUSE",
            "refseq_ac": "NP_001177380",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Decorin",
                    "type": "recommended"
                },
                {
                    "name": "Bone proteoglycan II",
                    "type": "synonym"
                },
                {
                    "name": "PG-S2",
                    "type": "synonym"
                },
                {
                    "name": "PG40",
                    "type": "synonym"
                },
                {
                    "name": "bone proteoglycan II",
                    "type": "synonym"
                },
                {
                    "name": "decorin preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dcn",
                    "type": "recommended"
                },
                {
                    "name": "DC",
                    "type": "synonym"
                },
                {
                    "name": "DSPG2",
                    "type": "synonym"
                },
                {
                    "name": "Dcn",
                    "type": "synonym"
                },
                {
                    "name": "PG40",
                    "type": "synonym"
                },
                {
                    "name": "PGII",
                    "type": "synonym"
                },
                {
                    "name": "PGS2",
                    "type": "synonym"
                },
                {
                    "name": "SLRR1B",
                    "type": "synonym"
                }
            ],
            "record_id": "P28654-1",
            "evidence": [
                {
                    "id": "0060445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07585-1",
            "uniprot_ac": "P07585",
            "uniprot_id": "PGS2_HUMAN",
            "refseq_ac": "NP_001911",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Decorin",
                    "type": "recommended"
                },
                {
                    "name": "Bone proteoglycan II",
                    "type": "synonym"
                },
                {
                    "name": "PG-S2",
                    "type": "synonym"
                },
                {
                    "name": "PG40",
                    "type": "synonym"
                },
                {
                    "name": "bone proteoglycan II",
                    "type": "synonym"
                },
                {
                    "name": "decorin isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "dermatan sulphate proteoglycans II",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan core protein",
                    "type": "synonym"
                },
                {
                    "name": "small leucine-rich protein 1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCN",
                    "type": "recommended"
                },
                {
                    "name": "CSCD",
                    "type": "synonym"
                },
                {
                    "name": "DCN",
                    "type": "synonym"
                },
                {
                    "name": "DSPG2",
                    "type": "synonym"
                },
                {
                    "name": "PG40",
                    "type": "synonym"
                },
                {
                    "name": "PGII",
                    "type": "synonym"
                },
                {
                    "name": "PGS2",
                    "type": "synonym"
                },
                {
                    "name": "SLRR1B",
                    "type": "synonym"
                }
            ],
            "record_id": "P07585-1",
            "evidence": [
                {
                    "id": "610048",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610048"
                },
                {
                    "id": "0060445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01129-1",
            "uniprot_ac": "Q01129",
            "uniprot_id": "PGS2_RAT",
            "refseq_ac": "NP_077043",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Decorin",
                    "type": "recommended"
                },
                {
                    "name": "Bone proteoglycan II",
                    "type": "synonym"
                },
                {
                    "name": "DSPG",
                    "type": "synonym"
                },
                {
                    "name": "Dermatan sulfate proteoglycan-II",
                    "type": "synonym"
                },
                {
                    "name": "PG-S2",
                    "type": "synonym"
                },
                {
                    "name": "PG40",
                    "type": "synonym"
                },
                {
                    "name": "bone proteoglycan II",
                    "type": "synonym"
                },
                {
                    "name": "decorin precursor",
                    "type": "synonym"
                },
                {
                    "name": "dermatan sulfate proteoglycan-II (decorin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dcn",
                    "type": "recommended"
                },
                {
                    "name": "Dcn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01129-1",
            "evidence": [
                {
                    "id": "0060445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22771-1",
            "uniprot_ac": "P22771",
            "uniprot_id": "GLRA2_RAT",
            "refseq_ac": "NP_036700",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Glycine receptor alpha 2 subunit (glycine receptor, neonatal)",
                    "type": "synonym"
                },
                {
                    "name": "Glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glra2",
                    "type": "recommended"
                },
                {
                    "name": "Glra2",
                    "type": "synonym"
                },
                {
                    "name": "RNNEOGLY",
                    "type": "synonym"
                }
            ],
            "record_id": "P22771-1",
            "evidence": [
                {
                    "id": "0060445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060445"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060445"
}