{
    "disease_id": "DOID:0110876",
    "recommended_name": {
        "id": "DOID:0110876",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110876",
        "name": "holoprosencephaly 7",
        "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110876",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110876",
            "name": "HPE7",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "holoprosencephaly 7",
            "description": "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene."
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "HPE7",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "PTCH1 holoprosencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "holoprosencephaly 7",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "holoprosencephaly caused by mutation in PTCH1",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "holoprosencephaly type 7",
            "description": ""
        },
        {
            "id": "MIM:610828",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610828",
            "name": "Holoprosencephaly 7",
            "description": "Holoprosencephaly 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110876"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110876",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110876",
            "categories": []
        },
        {
            "id": "MONDO:0012562",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "categories": []
        },
        {
            "id": "MIM:610828",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610828",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R8E2-1",
            "uniprot_ac": "F1R8E2",
            "uniprot_id": "F1R8E2_DANRE",
            "refseq_ac": "NP_001292471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein patched homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "leprechaun",
                    "type": "synonym"
                },
                {
                    "name": "patched 2",
                    "type": "synonym"
                },
                {
                    "name": "protein patched homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptch1",
                    "type": "recommended"
                },
                {
                    "name": "lep",
                    "type": "synonym"
                },
                {
                    "name": "ptc1",
                    "type": "synonym"
                },
                {
                    "name": "ptc2",
                    "type": "synonym"
                },
                {
                    "name": "ptch1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R8E2-1",
            "evidence": [
                {
                    "id": "0110876",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110876"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61115-1",
            "uniprot_ac": "Q61115",
            "uniprot_id": "PTC1_MOUSE",
            "refseq_ac": "NP_032983",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein patched homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "PTC1",
                    "type": "synonym"
                },
                {
                    "name": "PTC",
                    "type": "synonym"
                },
                {
                    "name": "Ptch1 protein +12b",
                    "type": "synonym"
                },
                {
                    "name": "mesenchymal dysplasia",
                    "type": "synonym"
                },
                {
                    "name": "protein patched homolog 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "protein patched homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptch1",
                    "type": "recommended"
                },
                {
                    "name": "A230106A15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ptc1",
                    "type": "synonym"
                },
                {
                    "name": "Ptch1",
                    "type": "synonym"
                },
                {
                    "name": "Ptch",
                    "type": "synonym"
                },
                {
                    "name": "Ptc",
                    "type": "synonym"
                },
                {
                    "name": "mes",
                    "type": "synonym"
                },
                {
                    "name": "wig",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61115-1",
            "evidence": [
                {
                    "id": "0110876",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110876"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13635-1",
            "uniprot_ac": "Q13635",
            "uniprot_id": "PTC1_HUMAN",
            "refseq_ac": "NP_000255",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein patched homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "PTC1",
                    "type": "synonym"
                },
                {
                    "name": "PTC",
                    "type": "synonym"
                },
                {
                    "name": "protein patched homolog 1 isoform L",
                    "type": "synonym"
                },
                {
                    "name": "protein patched homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTCH1",
                    "type": "recommended"
                },
                {
                    "name": "BCNS1",
                    "type": "synonym"
                },
                {
                    "name": "BCNS",
                    "type": "synonym"
                },
                {
                    "name": "NBCCS",
                    "type": "synonym"
                },
                {
                    "name": "PTC1",
                    "type": "synonym"
                },
                {
                    "name": "PTCH1",
                    "type": "synonym"
                },
                {
                    "name": "PTCH",
                    "type": "synonym"
                },
                {
                    "name": "PTC",
                    "type": "synonym"
                },
                {
                    "name": "SLC65B1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13635-1",
            "evidence": [
                {
                    "id": "610828",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610828"
                },
                {
                    "id": "0110876",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110876"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18502-1",
            "uniprot_ac": "P18502",
            "uniprot_id": "PTC_DROME",
            "refseq_ac": "NP_523661",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein patched",
                    "type": "recommended"
                },
                {
                    "name": "CG2411-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hedgehog receptor ptc",
                    "type": "synonym"
                },
                {
                    "name": "compaction defects 4",
                    "type": "synonym"
                },
                {
                    "name": "confused",
                    "type": "synonym"
                },
                {
                    "name": "patched",
                    "type": "synonym"
                },
                {
                    "name": "patch",
                    "type": "synonym"
                },
                {
                    "name": "ptc-PA",
                    "type": "synonym"
                },
                {
                    "name": "rubberneck",
                    "type": "synonym"
                },
                {
                    "name": "tufted",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptc",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH36596",
                    "type": "synonym"
                },
                {
                    "name": "CG2411",
                    "type": "synonym"
                },
                {
                    "name": "Conf",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2411",
                    "type": "synonym"
                },
                {
                    "name": "PTC",
                    "type": "synonym"
                },
                {
                    "name": "Patched",
                    "type": "synonym"
                },
                {
                    "name": "Ptc_Dm",
                    "type": "synonym"
                },
                {
                    "name": "Ptch",
                    "type": "synonym"
                },
                {
                    "name": "Ptc",
                    "type": "synonym"
                },
                {
                    "name": "com4",
                    "type": "synonym"
                },
                {
                    "name": "dPtc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k02507",
                    "type": "synonym"
                },
                {
                    "name": "pat",
                    "type": "synonym"
                },
                {
                    "name": "ptch",
                    "type": "synonym"
                },
                {
                    "name": "ptc",
                    "type": "synonym"
                },
                {
                    "name": "rubr",
                    "type": "synonym"
                },
                {
                    "name": "tuf",
                    "type": "synonym"
                }
            ],
            "record_id": "P18502-1",
            "evidence": [
                {
                    "id": "0110876",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110876"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110876"
}