{
    "disease_id": "DOID:0060234",
    "recommended_name": {
        "id": "DOID:0060234",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060234",
        "name": "Carpenter syndrome",
        "description": "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly."
    },
    "synonyms": [
        {
            "id": "DOID:0060234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060234",
            "name": "acrocephalopolysyndactyly type II",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "RAB23-related Carpenter syndrome",
            "description": "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene."
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "ACPS 2",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "acrocephalopolysyndactyly type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome caused by mutation in RAB23",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "RAB23 Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "RAB23-related Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "CRPT1",
            "description": ""
        },
        {
            "id": "MIM:201000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201000",
            "name": "Carpenter syndrome 1",
            "description": "Carpenter syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061098",
            "label": "Carpenter syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061099",
            "label": "Carpenter syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060234",
        "DOID:0061098",
        "DOID:0061099"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060234",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060234",
            "categories": []
        },
        {
            "id": "MONDO:0008710",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "categories": []
        },
        {
            "id": "MIM:201000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/201000",
            "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": "0060234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060234"
                }
            ]
        },
        {
            "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": "0060234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULC3-1",
            "uniprot_ac": "Q9ULC3",
            "uniprot_id": "RAB23_HUMAN",
            "refseq_ac": "NP_001265595",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-23",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "RAB family small GTP binding protein RAB 23",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB23",
                    "type": "recommended"
                },
                {
                    "name": "CRPT1",
                    "type": "synonym"
                },
                {
                    "name": "HSPC137",
                    "type": "synonym"
                },
                {
                    "name": "RAB23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULC3-1",
            "evidence": [
                {
                    "id": "201000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/201000"
                }
            ]
        },
        {
            "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": "0060234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060234"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "0060234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060234"
                }
            ]
        },
        {
            "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": "0060234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060234"
                }
            ]
        },
        {
            "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": "0060234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060234"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060234"
}