{
    "disease_id": "DOID:0060835",
    "recommended_name": {
        "id": "DOID:0060835",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060835",
        "name": "isolated microphthalmia 6",
        "description": "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "DOID:0060835",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060835",
            "name": "MCOP6",
            "description": ""
        },
        {
            "id": "DOID:0060835",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060835",
            "name": "posterior nonsyndromic microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "isolated microphthalmia 6",
            "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. This disease includes cases diagnosed as microphthalmos (specifically as posterior microphthalmos) and nanophthalmos."
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "MCOP6",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "PRSS56 isolated microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "PRSS56-related nanophthalmos",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "isolated microphthalmia caused by mutation in PRSS56",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "isolated microphthalmia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "microphthalmia, isolated type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "microphthalmia, isolated 6",
            "description": ""
        },
        {
            "id": "MIM:613517",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613517",
            "name": "Microphthalmia, isolated, 6",
            "description": "Microphthalmia, isolated, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060835"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060835",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060835",
            "categories": []
        },
        {
            "id": "MONDO:0013293",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "categories": []
        },
        {
            "id": "MIM:613517",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613517",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F2YMG0-1",
            "uniprot_ac": "F2YMG0",
            "uniprot_id": "PRS56_MOUSE",
            "refseq_ac": "NP_081360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease 56",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine 56",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 56 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prss56",
                    "type": "recommended"
                },
                {
                    "name": "1700027L20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Prss56",
                    "type": "synonym"
                }
            ],
            "record_id": "F2YMG0-1",
            "evidence": [
                {
                    "id": "0060835",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060835"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CW18-1",
            "uniprot_ac": "P0CW18",
            "uniprot_id": "PRS56_HUMAN",
            "refseq_ac": "NP_001182058",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease 56",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine 56",
                    "type": "synonym"
                },
                {
                    "name": "putative serine protease 56",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 56 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRSS56",
                    "type": "recommended"
                },
                {
                    "name": "MCOP6",
                    "type": "synonym"
                },
                {
                    "name": "PRSS56",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CW18-1",
            "evidence": [
                {
                    "id": "613517",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613517"
                },
                {
                    "id": "0060835",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060835"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G9L9-1",
            "uniprot_ac": "A0A8I6G9L9",
            "uniprot_id": "A0A8I6G9L9_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": "Serine protease 56",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Prss56",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6G9L9-1",
            "evidence": [
                {
                    "id": "0060835",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060835"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAG9-1",
            "uniprot_ac": "A1ZAG9",
            "uniprot_id": "A1ZAG9_DROME",
            "refseq_ac": "NP_995855",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase S1 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG33459-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HDC06756",
                    "type": "recommended"
                },
                {
                    "name": "CG33459",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33459",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33459",
                    "type": "synonym"
                },
                {
                    "name": "HDC06756",
                    "type": "synonym"
                },
                {
                    "name": "SP238",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAG9-1",
            "evidence": [
                {
                    "id": "0060835",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060835"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060835"
}