{
    "disease_id": "DOID:0111548",
    "recommended_name": {
        "id": "DOID:0111548",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111548",
        "name": "ring dermoid of cornea",
        "description": "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25."
    },
    "synonyms": [
        {
            "id": "DOID:0111548",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111548",
            "name": "RDC",
            "description": ""
        },
        {
            "id": "DOID:0111548",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111548",
            "name": "ring dermoid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "ring dermoid of cornea",
            "description": "Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition."
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "Ring dermoid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "ring dermoid of cornea",
            "description": ""
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "RDC",
            "description": ""
        },
        {
            "id": "MONDO:0008387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "name": "bilateral, annular limbal dermoids with corneal and conjunctival extension",
            "description": ""
        },
        {
            "id": "MIM:180550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180550",
            "name": "Ring dermoid of cornea",
            "description": "Ring dermoid of cornea"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111548"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111548",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111548",
            "categories": []
        },
        {
            "id": "MONDO:0008387",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008387",
            "categories": []
        },
        {
            "id": "MIM:180550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/180550",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9W5Z2-1",
            "uniprot_ac": "Q9W5Z2",
            "uniprot_id": "PITX2_DANRE",
            "refseq_ac": "NP_571050",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor 2a",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "pitx2b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pitx2",
                    "type": "recommended"
                },
                {
                    "name": "pitx2a",
                    "type": "synonym"
                },
                {
                    "name": "pitx2b",
                    "type": "synonym"
                },
                {
                    "name": "pitx2c",
                    "type": "synonym"
                },
                {
                    "name": "pitx2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110508",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W5Z2-1",
            "evidence": [
                {
                    "id": "0111548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111548"
                }
            ]
        },
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            "uniprot_canonical_ac": "P97474-1",
            "uniprot_ac": "P97474",
            "uniprot_id": "PITX2_MOUSE",
            "refseq_ac": "NP_001035967",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "ALL1-responsive protein ARP1",
                    "type": "synonym"
                },
                {
                    "name": "BRX1 homeoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Bicoid-related homeobox protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "Orthodenticle-like homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Solurshin",
                    "type": "synonym"
                },
                {
                    "name": "bicoid-related homeobox protein 1",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle-like homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor Munc 30",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "solurshin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitx2",
                    "type": "recommended"
                },
                {
                    "name": "9430085M16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arp1",
                    "type": "synonym"
                },
                {
                    "name": "Brx1b",
                    "type": "synonym"
                },
                {
                    "name": "Brx1",
                    "type": "synonym"
                },
                {
                    "name": "Munc30",
                    "type": "synonym"
                },
                {
                    "name": "Otlx2",
                    "type": "synonym"
                },
                {
                    "name": "Pitx2",
                    "type": "synonym"
                },
                {
                    "name": "Ptx2",
                    "type": "synonym"
                },
                {
                    "name": "Rgs",
                    "type": "synonym"
                },
                {
                    "name": "Rieg",
                    "type": "synonym"
                }
            ],
            "record_id": "P97474-1",
            "evidence": [
                {
                    "id": "0111548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99697-1",
            "uniprot_ac": "Q99697",
            "uniprot_id": "PITX2_HUMAN",
            "refseq_ac": "NP_000316",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "ALL1-responsive protein ARP1",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "RIEG bicoid-related homeobox transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Solurshin",
                    "type": "synonym"
                },
                {
                    "name": "all1-responsive gene 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "rieg bicoid-related homeobox transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "solurshin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PITX2",
                    "type": "recommended"
                },
                {
                    "name": "ARP1",
                    "type": "synonym"
                },
                {
                    "name": "ASGD4",
                    "type": "synonym"
                },
                {
                    "name": "Brx1",
                    "type": "synonym"
                },
                {
                    "name": "IDG2",
                    "type": "synonym"
                },
                {
                    "name": "IGDS2",
                    "type": "synonym"
                },
                {
                    "name": "IGDS",
                    "type": "synonym"
                },
                {
                    "name": "IHG2",
                    "type": "synonym"
                },
                {
                    "name": "IRID2",
                    "type": "synonym"
                },
                {
                    "name": "Otlx2",
                    "type": "synonym"
                },
                {
                    "name": "PITX2",
                    "type": "synonym"
                },
                {
                    "name": "PTX2",
                    "type": "synonym"
                },
                {
                    "name": "RGS",
                    "type": "synonym"
                },
                {
                    "name": "RIEG1",
                    "type": "synonym"
                },
                {
                    "name": "RIEG",
                    "type": "synonym"
                },
                {
                    "name": "RS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99697-1",
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                    "id": "180550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/180550"
                },
                {
                    "id": "0111548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0W1-1",
            "uniprot_ac": "Q9R0W1",
            "uniprot_id": "PITX2_RAT",
            "refseq_ac": "NP_001035970",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "rPtx2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitx2",
                    "type": "recommended"
                },
                {
                    "name": "Pitx-2",
                    "type": "synonym"
                },
                {
                    "name": "Pitx2c",
                    "type": "synonym"
                },
                {
                    "name": "Pitx2",
                    "type": "synonym"
                },
                {
                    "name": "Ptx2",
                    "type": "synonym"
                }
            ],
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                    "id": "0111548",
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                }
            ]
        },
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            "uniprot_canonical_ac": "O18400-1",
            "uniprot_ac": "O18400",
            "uniprot_id": "PITX_DROME",
            "refseq_ac": "NP_733410",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
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                    "name": "Pituitary homeobox homolog Ptx1",
                    "type": "recommended"
                },
                {
                    "name": "CG1447-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-PTX1",
                    "type": "synonym"
                },
                {
                    "name": "Ptx1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ptx1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Ptx1",
                    "type": "recommended"
                },
                {
                    "name": "CG1447",
                    "type": "synonym"
                },
                {
                    "name": "D-Ptx1",
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                },
                {
                    "name": "Dmel\\CG1447",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1447",
                    "type": "synonym"
                },
                {
                    "name": "Ptx1",
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                },
                {
                    "name": "Ptx",
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                },
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                    "name": "ptx1",
                    "type": "synonym"
                }
            ],
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                    "id": "0111548",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111548"
                }
            ]
        },
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            "uniprot_canonical_ac": "P50402-1",
            "uniprot_ac": "P50402",
            "uniprot_id": "EMD_HUMAN",
            "refseq_ac": "NP_000108",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Emerin",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "emerin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMD",
                    "type": "recommended"
                },
                {
                    "name": "CMD3C",
                    "type": "synonym"
                },
                {
                    "name": "EDMD",
                    "type": "synonym"
                },
                {
                    "name": "EMD",
                    "type": "synonym"
                },
                {
                    "name": "LEMD5",
                    "type": "synonym"
                },
                {
                    "name": "STA",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0111548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111548"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111548"
}