{
    "disease_id": "DOID:0080606",
    "recommended_name": {
        "id": "DOID:0080606",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080606",
        "name": "anterior segment dysgenesis 1",
        "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "anterior segment dysgenesis 1",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "anterior segment dysgenesis 1",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "anterior segment dysgenesis 1, multiple subtypes",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "ASGD1",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "ASMD",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "anterior segment mesenchymal dysgenesis",
            "description": ""
        },
        {
            "id": "MIM:107250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/107250",
            "name": "Anterior segment dysgenesis 1",
            "description": "Anterior segment dysgenesis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080606"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080606",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080606",
            "categories": []
        },
        {
            "id": "MONDO:0007138",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "categories": []
        },
        {
            "id": "MIM:107250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/107250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6QU75-1",
            "uniprot_ac": "Q6QU75",
            "uniprot_id": "PITX3_DANRE",
            "refseq_ac": "NP_991238",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 3",
                    "type": "recommended"
                },
                {
                    "name": "Bicoid-like homeodomain transcription factor Pitx3",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "bicoid-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pitx3",
                    "type": "recommended"
                },
                {
                    "name": "pitx3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-196H17.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109716",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6QU75-1",
            "evidence": [
                {
                    "id": "0080606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35160-1",
            "uniprot_ac": "O35160",
            "uniprot_id": "PITX3_MOUSE",
            "refseq_ac": "NP_032878",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 3",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitx3",
                    "type": "recommended"
                },
                {
                    "name": "Pitx3",
                    "type": "synonym"
                },
                {
                    "name": "Ptx3",
                    "type": "synonym"
                },
                {
                    "name": "ak",
                    "type": "synonym"
                },
                {
                    "name": "aphakia",
                    "type": "synonym"
                }
            ],
            "record_id": "O35160-1",
            "evidence": [
                {
                    "id": "0080606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75364-1",
            "uniprot_ac": "O75364",
            "uniprot_id": "PITX3_HUMAN",
            "refseq_ac": "NP_005020",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 3",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PITX3",
                    "type": "recommended"
                },
                {
                    "name": "ASGD1",
                    "type": "synonym"
                },
                {
                    "name": "ASMD",
                    "type": "synonym"
                },
                {
                    "name": "ASOD",
                    "type": "synonym"
                },
                {
                    "name": "CTPP4",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT11",
                    "type": "synonym"
                },
                {
                    "name": "PITX3",
                    "type": "synonym"
                },
                {
                    "name": "PTX3",
                    "type": "synonym"
                }
            ],
            "record_id": "O75364-1",
            "evidence": [
                {
                    "id": "107250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/107250"
                },
                {
                    "id": "0080606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04116-1",
            "uniprot_ac": "Q04116",
            "uniprot_id": "YHP1_YEAST",
            "refseq_ac": "NP_010739",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein YHP1",
                    "type": "recommended"
                },
                {
                    "name": "Yhp1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YHP1",
                    "type": "recommended"
                },
                {
                    "name": "D9461.36",
                    "type": "synonym"
                },
                {
                    "name": "YHP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04116-1",
            "evidence": [
                {
                    "id": "0080606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P81062-1",
            "uniprot_ac": "P81062",
            "uniprot_id": "PITX3_RAT",
            "refseq_ac": "NP_062120",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 3",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PTX3",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitx3",
                    "type": "recommended"
                },
                {
                    "name": "Pitx3",
                    "type": "synonym"
                },
                {
                    "name": "Ptx3",
                    "type": "synonym"
                }
            ],
            "record_id": "P81062-1",
            "evidence": [
                {
                    "id": "0080606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080606"
                }
            ]
        },
        {
            "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": [
                {
                    "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": [
                {
                    "name": "Ptx1",
                    "type": "recommended"
                },
                {
                    "name": "CG1447",
                    "type": "synonym"
                },
                {
                    "name": "D-Ptx1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1447",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1447",
                    "type": "synonym"
                },
                {
                    "name": "Ptx1",
                    "type": "synonym"
                },
                {
                    "name": "Ptx",
                    "type": "synonym"
                },
                {
                    "name": "ptx1",
                    "type": "synonym"
                }
            ],
            "record_id": "O18400-1",
            "evidence": [
                {
                    "id": "0080606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KZI7-1",
            "uniprot_ac": "Q7KZI7",
            "uniprot_id": "MARK2_HUMAN",
            "refseq_ac": "NP_001156768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase MARK2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.26",
                    "type": "synonym"
                },
                {
                    "name": "ELKL motif kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "EMK-1",
                    "type": "synonym"
                },
                {
                    "name": "MAP/microtubule affinity-regulating kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "PAR1 homolog b",
                    "type": "synonym"
                },
                {
                    "name": "PAR1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Par-1b",
                    "type": "synonym"
                },
                {
                    "name": "Par1b",
                    "type": "synonym"
                },
                {
                    "name": "Ser/Thr protein kinase PAR-1B",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase EMK",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MARK2 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MARK2",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 117",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MARK2",
                    "type": "recommended"
                },
                {
                    "name": "EMK-1",
                    "type": "synonym"
                },
                {
                    "name": "EMK1",
                    "type": "synonym"
                },
                {
                    "name": "MARK2",
                    "type": "synonym"
                },
                {
                    "name": "MRD76",
                    "type": "synonym"
                },
                {
                    "name": "PAR-1",
                    "type": "synonym"
                },
                {
                    "name": "Par-1b",
                    "type": "synonym"
                },
                {
                    "name": "Par1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KZI7-1",
            "evidence": [
                {
                    "id": "0080606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080606"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080606"
}