{
    "disease_id": "DOID:0061099",
    "recommended_name": {
        "id": "DOID:0061099",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061099",
        "name": "Carpenter syndrome 2",
        "description": "A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "MEGF8-related Carpenter syndrome",
            "description": "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene."
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "Carpenter syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "Carpenter syndrome caused by mutation in MEGF8",
            "description": ""
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "Carpenter syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "MEGF8 Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "CRPT2",
            "description": ""
        },
        {
            "id": "MIM:614976",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614976",
            "name": "Carpenter syndrome 2",
            "description": "Carpenter syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061099"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061099",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061099",
            "categories": []
        },
        {
            "id": "MONDO:0013998",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "categories": []
        },
        {
            "id": "MIM:614976",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614976",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QBZ9-1",
            "uniprot_ac": "F1QBZ9",
            "uniprot_id": "F1QBZ9_DANRE",
            "refseq_ac": "XP_005158088",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multiple epidermal growth factor-like domains protein 8",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "megf8",
                    "type": "recommended"
                },
                {
                    "name": "megf8",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QBZ9-1",
            "evidence": [
                {
                    "id": "0061099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60882-1",
            "uniprot_ac": "P60882",
            "uniprot_id": "MEGF8_MOUSE",
            "refseq_ac": "NP_001153872",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multiple epidermal growth factor-like domains protein 8",
                    "type": "recommended"
                },
                {
                    "name": "EGF-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "EGF-like-domain, multiple 4",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Multiple EGF-like domains protein 8",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "multiple EGF-like domains protein 8",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 8 precursor",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Megf8",
                    "type": "recommended"
                },
                {
                    "name": "Egfl4",
                    "type": "synonym"
                },
                {
                    "name": "Megf8",
                    "type": "synonym"
                },
                {
                    "name": "b2b1702.2Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1702Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b288Clo",
                    "type": "synonym"
                },
                {
                    "name": "m687Ddg",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0817",
                    "type": "synonym"
                }
            ],
            "record_id": "P60882-1",
            "evidence": [
                {
                    "id": "0061099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z7M0-1",
            "uniprot_ac": "Q7Z7M0",
            "uniprot_id": "MEGF8_HUMAN",
            "refseq_ac": "NP_001258867",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multiple epidermal growth factor-like domains protein 8",
                    "type": "recommended"
                },
                {
                    "name": "EGF-like domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "EGF-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "EGF-like-domain, multiple 4",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "HBV pre-S2-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HBV pre-s2 binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Multiple EGF-like domains protein 8",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "hepatitis B virus pre-S2-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 8 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEGF8",
                    "type": "recommended"
                },
                {
                    "name": "C19orf49",
                    "type": "synonym"
                },
                {
                    "name": "CRPT2",
                    "type": "synonym"
                },
                {
                    "name": "EGFL4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0817",
                    "type": "synonym"
                },
                {
                    "name": "MEGF8",
                    "type": "synonym"
                },
                {
                    "name": "SBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z7M0-1",
            "evidence": [
                {
                    "id": "614976",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614976"
                },
                {
                    "id": "0061099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYP0-1",
            "uniprot_ac": "Q9QYP0",
            "uniprot_id": "MEGF8_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multiple epidermal growth factor-like domains protein 8",
                    "type": "recommended"
                },
                {
                    "name": "EGF-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Multiple EGF-like domains protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Megf8",
                    "type": "recommended"
                },
                {
                    "name": "Egfl4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYP0-1",
            "evidence": [
                {
                    "id": "0061099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33533-1",
            "uniprot_ac": "P33533",
            "uniprot_id": "OPRD_RAT",
            "refseq_ac": "NP_036749",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-type opioid receptor",
                    "type": "recommended"
                },
                {
                    "name": "D-OR-1",
                    "type": "synonym"
                },
                {
                    "name": "DOR-1",
                    "type": "synonym"
                },
                {
                    "name": "Opioid receptor A",
                    "type": "synonym"
                },
                {
                    "name": "delta-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "opioid receptor A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oprd1",
                    "type": "recommended"
                },
                {
                    "name": "Oprd1",
                    "type": "synonym"
                },
                {
                    "name": "Ror-a",
                    "type": "synonym"
                }
            ],
            "record_id": "P33533-1",
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                {
                    "id": "0061099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLT6-1",
            "uniprot_ac": "Q9VLT6",
            "uniprot_id": "Q9VLT6_DROME",
            "refseq_ac": "NP_609180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7466-PB",
                    "type": "synonym"
                },
                {
                    "name": "Megf8-PB",
                    "type": "synonym"
                },
                {
                    "name": "Multiple EGF like domains 8, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "multiple EGF like domains 8, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Megf8",
                    "type": "recommended"
                },
                {
                    "name": "CG7466",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7466",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7466",
                    "type": "synonym"
                },
                {
                    "name": "Megf8",
                    "type": "synonym"
                },
                {
                    "name": "dMegf8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLT6-1",
            "evidence": [
                {
                    "id": "0061099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061099"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061099"
}