{
    "disease_id": "DOID:0111591",
    "recommended_name": {
        "id": "DOID:0111591",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111591",
        "name": "congenital heart defects, hamartomas of tongue, and polysyndactyly",
        "description": "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15."
    },
    "synonyms": [
        {
            "id": "DOID:0111591",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111591",
            "name": "CHDTHP",
            "description": ""
        },
        {
            "id": "DOID:0111591",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111591",
            "name": "Ostravik-Lindemann-Solberg syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111591",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111591",
            "name": "heart defect-tongue hamartoma-polysyndactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009008",
            "name": "heart defect - tongue hamartoma - polysyndactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009008",
            "name": "Ostravik-Lindemann-Solberg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009008",
            "name": "heart defect - tongue hamartoma - polysyndactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009008",
            "name": "CHDTHP",
            "description": ""
        },
        {
            "id": "MONDO:0009008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009008",
            "name": "Orstavik Lindemann Solberg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009008",
            "name": "congenital heart defects, hamartomas of tongue, and polysyndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0009008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009008",
            "name": "heart defect, tongue hamartoma and polysyndactyly",
            "description": ""
        },
        {
            "id": "MIM:217085",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/217085",
            "name": "Congenital heart defects, hamartomas of tongue, and polysyndactyly",
            "description": "Congenital heart defects, hamartomas of tongue, and polysyndactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111591"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111591",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111591",
            "categories": []
        },
        {
            "id": "MONDO:0009008",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009008",
            "categories": []
        },
        {
            "id": "MIM:217085",
            "database": "MIM",
            "url": "https://www.omim.org/entry/217085",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C456-1",
            "uniprot_ac": "Q8C456",
            "uniprot_id": "FRITZ_MOUSE",
            "refseq_ac": "NP_663400",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein fritz homolog",
                    "type": "recommended"
                },
                {
                    "name": "Homolog-13",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein fritz homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein C2orf86 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mFrtz",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdpcp",
                    "type": "recommended"
                },
                {
                    "name": "Frtz",
                    "type": "synonym"
                },
                {
                    "name": "Wdpcp",
                    "type": "synonym"
                },
                {
                    "name": "homolog-13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C456-1",
            "evidence": [
                {
                    "id": "0111591",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111591"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95876-1",
            "uniprot_ac": "O95876",
            "uniprot_id": "FRITZ_HUMAN",
            "refseq_ac": "NP_001036157",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein fritz homolog",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 15 protein",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein fritz homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein C2orf86",
                    "type": "synonym"
                },
                {
                    "name": "ciliogenesis and planar polarity effector 5",
                    "type": "synonym"
                },
                {
                    "name": "ciliogenesis and planar polarity effector complex subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "hFRTZ",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDPCP",
                    "type": "recommended"
                },
                {
                    "name": "BBS15",
                    "type": "synonym"
                },
                {
                    "name": "C2orf86",
                    "type": "synonym"
                },
                {
                    "name": "CHDTHP",
                    "type": "synonym"
                },
                {
                    "name": "CPLANE5",
                    "type": "synonym"
                },
                {
                    "name": "FRITZ",
                    "type": "synonym"
                },
                {
                    "name": "FRTZ",
                    "type": "synonym"
                },
                {
                    "name": "WDPCP",
                    "type": "synonym"
                }
            ],
            "record_id": "O95876-1",
            "evidence": [
                {
                    "id": "217085",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/217085"
                },
                {
                    "id": "0111591",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111591"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WC10-1",
            "uniprot_ac": "B1WC10",
            "uniprot_id": "FRITZ_RAT",
            "refseq_ac": "NP_001121009",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein fritz homolog",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein fritz homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdpcp",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309501",
                    "type": "synonym"
                },
                {
                    "name": "Wdpcp",
                    "type": "synonym"
                }
            ],
            "record_id": "B1WC10-1",
            "evidence": [
                {
                    "id": "0111591",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111591"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ36-1",
            "uniprot_ac": "Q9VQ36",
            "uniprot_id": "FRITZ_DROME",
            "refseq_ac": "NP_001259879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing and planar cell polarity effector protein fritz",
                    "type": "recommended"
                },
                {
                    "name": "CG17657-PB",
                    "type": "synonym"
                },
                {
                    "name": "fritz, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "frtz-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frtz",
                    "type": "recommended"
                },
                {
                    "name": "CG17657",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17657",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17657",
                    "type": "synonym"
                },
                {
                    "name": "Frtz",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.105",
                    "type": "synonym"
                },
                {
                    "name": "frtz",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ36-1",
            "evidence": [
                {
                    "id": "0111591",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111591"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111591"
}