{
    "disease_id": "DOID:0060282",
    "recommended_name": {
        "id": "DOID:0060282",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060282",
        "name": "persistent hyperplastic primary vitreous",
        "description": "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development."
    },
    "synonyms": [
        {
            "id": "MONDO:0009097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009097",
            "name": "persistent hyperplastic primary vitreous, autosomal recessive",
            "description": "Autosomal recessive form of persistent hyperplastic primary vitreous."
        },
        {
            "id": "MONDO:0009097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009097",
            "name": "autosomal recessive persistent hyperplastic primary vitreous",
            "description": ""
        },
        {
            "id": "MONDO:0009097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009097",
            "name": "persistent hyperplastic primary vitreous, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009097",
            "name": "PHPVAR",
            "description": ""
        },
        {
            "id": "MONDO:0009097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009097",
            "name": "persistent foetal vasculature",
            "description": ""
        },
        {
            "id": "MONDO:0012653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012653",
            "name": "persistent hyperplastic primary vitreous, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0012653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012653",
            "name": "PHPVAD",
            "description": ""
        },
        {
            "id": "MONDO:0012653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012653",
            "name": "persistent hyperplastic primary vitreous, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:221900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/221900",
            "name": "Persistent hyperplastic primary vitreous, autosomal recessive",
            "description": "Persistent hyperplastic primary vitreous, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060282"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060282",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060282",
            "categories": []
        },
        {
            "id": "MONDO:0009097",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009097",
            "categories": []
        },
        {
            "id": "MONDO:0012653",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012653",
            "categories": []
        },
        {
            "id": "MIM:221900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/221900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8AW52-1",
            "uniprot_ac": "Q8AW52",
            "uniprot_id": "ATOH7_DANRE",
            "refseq_ac": "NP_571707",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor atoh7",
                    "type": "recommended"
                },
                {
                    "name": "Atonal bHLH transcription factor 7",
                    "type": "synonym"
                },
                {
                    "name": "Helix-loop-helix protein zATH-5",
                    "type": "synonym"
                },
                {
                    "name": "Protein atonal homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "Protein atonal homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "Protein lakritz",
                    "type": "synonym"
                },
                {
                    "name": "helix-loop-helix protein zATH-5",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "protein lakritz",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor atoh7",
                    "type": "synonym"
                },
                {
                    "name": "zATH5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atoh7",
                    "type": "recommended"
                },
                {
                    "name": "ath5",
                    "type": "synonym"
                },
                {
                    "name": "atoh7",
                    "type": "synonym"
                },
                {
                    "name": "lak",
                    "type": "synonym"
                },
                {
                    "name": "si:packtrz.1",
                    "type": "synonym"
                },
                {
                    "name": "zath5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8AW52-1",
            "evidence": [
                {
                    "id": "0060282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2E5-1",
            "uniprot_ac": "Q9Z2E5",
            "uniprot_id": "ATOH7_MOUSE",
            "refseq_ac": "NP_058560",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Atoh7",
                    "type": "recommended"
                },
                {
                    "name": "Atonal bHLH transcription factor 7",
                    "type": "synonym"
                },
                {
                    "name": "Helix-loop-helix protein mATH-5",
                    "type": "synonym"
                },
                {
                    "name": "Protein atonal homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "helix-loop-helix protein mATH-5",
                    "type": "synonym"
                },
                {
                    "name": "mATH5",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Atoh7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Atoh7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atoh7",
                    "type": "recommended"
                },
                {
                    "name": "Ath5",
                    "type": "synonym"
                },
                {
                    "name": "Atoh7",
                    "type": "synonym"
                },
                {
                    "name": "Math5",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2E5-1",
            "evidence": [
                {
                    "id": "0060282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N100-1",
            "uniprot_ac": "Q8N100",
            "uniprot_id": "ATOH7_HUMAN",
            "refseq_ac": "NP_660161",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor ATOH7",
                    "type": "recommended"
                },
                {
                    "name": "Atonal bHLH transcription factor 7",
                    "type": "synonym"
                },
                {
                    "name": "Class A basic helix-loop-helix protein 13",
                    "type": "synonym"
                },
                {
                    "name": "Protein atonal homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "atonal homolog bHLH transcription factor 7",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa13",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 13",
                    "type": "synonym"
                },
                {
                    "name": "helix-loop-helix protein hATH-5",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor ATOH7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATOH7",
                    "type": "recommended"
                },
                {
                    "name": "ATH5",
                    "type": "synonym"
                },
                {
                    "name": "ATOH7",
                    "type": "synonym"
                },
                {
                    "name": "BHLHA13",
                    "type": "synonym"
                },
                {
                    "name": "Math5",
                    "type": "synonym"
                },
                {
                    "name": "NCRNA",
                    "type": "synonym"
                },
                {
                    "name": "PHPVAR",
                    "type": "synonym"
                },
                {
                    "name": "RNANC",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N100-1",
            "evidence": [
                {
                    "id": "221900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/221900"
                },
                {
                    "id": "0060282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LH80-1",
            "uniprot_ac": "A0ABK0LH80",
            "uniprot_id": "A0ABK0LH80_RAT",
            "refseq_ac": "NP_001163953",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atonal bHLH transcription factor 7",
                    "type": "synonym"
                },
                {
                    "name": "atonal homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor ATOH7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atoh7",
                    "type": "recommended"
                },
                {
                    "name": "Atoh7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LH80-1",
            "evidence": [
                {
                    "id": "0060282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y0A7-1",
            "uniprot_ac": "Q9Y0A7",
            "uniprot_id": "AMOS_DROME",
            "refseq_ac": "NP_477446",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Basic helix-loop-helix transcription factor amos",
                    "type": "recommended"
                },
                {
                    "name": "Absent MD neurons and olfactory sensilla protein",
                    "type": "synonym"
                },
                {
                    "name": "Amos protein",
                    "type": "synonym"
                },
                {
                    "name": "CG10393-PA",
                    "type": "synonym"
                },
                {
                    "name": "Reduced olfactory organs protein",
                    "type": "synonym"
                },
                {
                    "name": "Rough eye protein",
                    "type": "synonym"
                },
                {
                    "name": "Rough-eye",
                    "type": "synonym"
                },
                {
                    "name": "absent MD neurons and olfactory sensilla",
                    "type": "synonym"
                },
                {
                    "name": "absent MD neurons",
                    "type": "synonym"
                },
                {
                    "name": "amos-PA",
                    "type": "synonym"
                },
                {
                    "name": "rough eye",
                    "type": "synonym"
                },
                {
                    "name": "tufted",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "amos",
                    "type": "recommended"
                },
                {
                    "name": "Amos",
                    "type": "synonym"
                },
                {
                    "name": "CG10393",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10393",
                    "type": "synonym"
                },
                {
                    "name": "Roi",
                    "type": "synonym"
                },
                {
                    "name": "Tft",
                    "type": "synonym"
                },
                {
                    "name": "amos",
                    "type": "synonym"
                },
                {
                    "name": "asolo",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa10",
                    "type": "synonym"
                },
                {
                    "name": "rolo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y0A7-1",
            "evidence": [
                {
                    "id": "0060282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48987-1",
            "uniprot_ac": "P48987",
            "uniprot_id": "ATO_DROME",
            "refseq_ac": "NP_731223",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein atonal",
                    "type": "recommended"
                },
                {
                    "name": "CG7508-PA",
                    "type": "synonym"
                },
                {
                    "name": "ato-PA",
                    "type": "synonym"
                },
                {
                    "name": "atonal",
                    "type": "synonym"
                },
                {
                    "name": "atona",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ato",
                    "type": "recommended"
                },
                {
                    "name": "ATO",
                    "type": "synonym"
                },
                {
                    "name": "Ato",
                    "type": "synonym"
                },
                {
                    "name": "At",
                    "type": "synonym"
                },
                {
                    "name": "CG7508",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7508",
                    "type": "synonym"
                },
                {
                    "name": "ato1",
                    "type": "synonym"
                },
                {
                    "name": "ato[Dm]",
                    "type": "synonym"
                },
                {
                    "name": "ato",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa10",
                    "type": "synonym"
                }
            ],
            "record_id": "P48987-1",
            "evidence": [
                {
                    "id": "0060282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060282"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060282"
}