{
    "disease_id": "DOID:0060341",
    "recommended_name": {
        "id": "DOID:0060341",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060341",
        "name": "agnathia-otocephaly complex",
        "description": "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported."
    },
    "synonyms": [
        {
            "id": "DOID:0060341",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060341",
            "name": "agnathia-holoprosencephaly-situs inversus syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060341",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060341",
            "name": "dysgnathia complex agnathia-holoprosencephaly",
            "description": ""
        },
        {
            "id": "DOID:0060341",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060341",
            "name": "holoprosencephaly-agnathia",
            "description": ""
        },
        {
            "id": "DOID:0060341",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060341",
            "name": "otocephaly",
            "description": ""
        },
        {
            "id": "MONDO:0008740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008740",
            "name": "agnathia-otocephaly complex",
            "description": "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis."
        },
        {
            "id": "MONDO:0008740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008740",
            "name": "agnathia-holoprosencephaly-situs inversus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008740",
            "name": "agnathia-otocephaly complex",
            "description": ""
        },
        {
            "id": "MONDO:0008740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008740",
            "name": "dysgnathia complex agnathia-holoprosencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0008740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008740",
            "name": "holoprosencephaly-agnathia",
            "description": ""
        },
        {
            "id": "MONDO:0008740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008740",
            "name": "otocephaly",
            "description": ""
        },
        {
            "id": "MONDO:0008740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008740",
            "name": "AGOTC",
            "description": ""
        },
        {
            "id": "MONDO:0008740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008740",
            "name": "agnathia-holoprosencephaly",
            "description": ""
        },
        {
            "id": "MIM:202650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/202650",
            "name": "Agnathia-otocephaly complex",
            "description": "Agnathia-otocephaly complex"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060341"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060341",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060341",
            "categories": []
        },
        {
            "id": "MONDO:0008740",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008740",
            "categories": []
        },
        {
            "id": "MIM:202650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/202650",
            "categories": []
        }
    ],
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                },
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                    "name": "Schmalspur protein",
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                    "name": "etID62177.12",
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                    "name": "uncle freddy",
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                    "name": "unf",
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                    "name": "wu:fi32b01",
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                    "name": "Trafficking protein particle complex subunit 10",
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                    "name": "Trafficking protein particle complex subunit TMEM1",
                    "type": "synonym"
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                    "name": "transmembrane protein 1",
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                {
                    "name": "Trappc10",
                    "type": "recommended"
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                    "name": "B230307C21Rik",
                    "type": "synonym"
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                    "name": "Gm870",
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                    "name": "b2b2416Clo",
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                {
                    "name": "b2b2613Clo",
                    "type": "synonym"
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                    "id": "0060341",
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                    "name": "Foxh1",
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                    "id": "0060341",
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                    "name": "Mus musculus",
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                {
                    "name": "Muscle homeobox protein",
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                {
                    "name": "Dmel\\CG9876",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9876",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060341",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFB7-1",
            "uniprot_ac": "Q9VFB7",
            "uniprot_id": "TPC10_DROME",
            "refseq_ac": "NP_650431",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 10",
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                },
                {
                    "name": "CG6623-PA",
                    "type": "synonym"
                },
                {
                    "name": "SIDL-PA",
                    "type": "synonym"
                },
                {
                    "name": "Shal Interactor of Di-Leucine Motif",
                    "type": "synonym"
                },
                {
                    "name": "TRAPP subunit TMEM1",
                    "type": "synonym"
                },
                {
                    "name": "Trafficking protein particle complex subunit TMEM1",
                    "type": "synonym"
                },
                {
                    "name": "Transport protein particle subunit TMEM1",
                    "type": "synonym"
                },
                {
                    "name": "shal interactor of Di-Leucine motif",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIDL",
                    "type": "recommended"
                },
                {
                    "name": "CG6623",
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                },
                {
                    "name": "Dmel\\CG6623",
                    "type": "synonym"
                },
                {
                    "name": "SIDL",
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                },
                {
                    "name": "TRAPPC10",
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                }
            ],
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                {
                    "id": "0060341",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060341"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48553-1",
            "uniprot_ac": "P48553",
            "uniprot_id": "TPC10_HUMAN",
            "refseq_ac": "NP_003265",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 10",
                    "type": "recommended"
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                {
                    "name": "EHOC-1",
                    "type": "synonym"
                },
                {
                    "name": "Epilepsy holoprosencephaly candidate 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein GT334",
                    "type": "synonym"
                },
                {
                    "name": "TRAPP 130 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TRAPP subunit TMEM1",
                    "type": "synonym"
                },
                {
                    "name": "Trafficking protein particle complex subunit TMEM1",
                    "type": "synonym"
                },
                {
                    "name": "Transport protein particle subunit TMEM1",
                    "type": "synonym"
                },
                {
                    "name": "epilepsy holoprosencephaly candidate-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 10",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 10 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 130",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit TMEM1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transport protein particle subunit TMEM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAPPC10",
                    "type": "recommended"
                },
                {
                    "name": "EHOC-1",
                    "type": "synonym"
                },
                {
                    "name": "EHOC1",
                    "type": "synonym"
                },
                {
                    "name": "GT334",
                    "type": "synonym"
                },
                {
                    "name": "NEDMISS",
                    "type": "synonym"
                },
                {
                    "name": "TMEM1",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC10",
                    "type": "synonym"
                },
                {
                    "name": "TRS130",
                    "type": "synonym"
                },
                {
                    "name": "TRS30",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060341",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060341"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75593-1",
            "uniprot_ac": "O75593",
            "uniprot_id": "FOXH1_HUMAN",
            "refseq_ac": "NP_003914",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein H1",
                    "type": "recommended"
                },
                {
                    "name": "Fast-1",
                    "type": "synonym"
                },
                {
                    "name": "Fast-2",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead activin signal transducer 1",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead activin signal transducer 2",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta/activin signal transducer",
                    "type": "synonym"
                },
                {
                    "name": "fast-2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead activin signal transducer 2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead activin signal transducer-1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein H1",
                    "type": "synonym"
                },
                {
                    "name": "hFAST-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXH1",
                    "type": "recommended"
                },
                {
                    "name": "FAST-1",
                    "type": "synonym"
                },
                {
                    "name": "FAST1",
                    "type": "synonym"
                },
                {
                    "name": "FAST2",
                    "type": "synonym"
                },
                {
                    "name": "FOXH1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060341",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060341"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060341"
}