{
    "disease_id": "DOID:0111780",
    "recommended_name": {
        "id": "DOID:0111780",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111780",
        "name": "TARP syndrome",
        "description": "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111780",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111780",
            "name": "Pierre Robin syndrome-congenital heart defect-talipes syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111780",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111780",
            "name": "TARPS",
            "description": ""
        },
        {
            "id": "DOID:0111780",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111780",
            "name": "Pierre Robin sequence-congenital heart defect-talipes syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111780",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111780",
            "name": "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "TARP syndrome",
            "description": "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months."
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "Pierre Robin sequence-congenital heart defect-talipes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "Pierre Robin syndrome-congenital heart defect-talipes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "TARP syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "tarp syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "Pierre Robin sequence - congenital heart defect - talipes",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "Pierre Robin syndrome - congenital heart defect - talipes",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "TARPS",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava",
            "description": ""
        },
        {
            "id": "MIM:311900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/311900",
            "name": "TARP syndrome",
            "description": "TARP syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111780"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111780",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111780",
            "categories": []
        },
        {
            "id": "MONDO:0010711",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "categories": []
        },
        {
            "id": "MIM:311900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/311900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R9N7-1",
            "uniprot_ac": "F1R9N7",
            "uniprot_id": "F1R9N7_DANRE",
            "refseq_ac": "XP_009294839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein 10 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rbm10",
                    "type": "recommended"
                },
                {
                    "name": "rbm10",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R9N7-1",
            "evidence": [
                {
                    "id": "0111780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99KG3-1",
            "uniprot_ac": "Q99KG3",
            "uniprot_id": "RBM10_MOUSE",
            "refseq_ac": "NP_001161247",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein 10",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 10",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 10 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Ribosome biogenesis inhibitor MINAS-60",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbm10",
                    "type": "recommended"
                },
                {
                    "name": "E430039K10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0122",
                    "type": "synonym"
                },
                {
                    "name": "MINAS-60",
                    "type": "synonym"
                },
                {
                    "name": "Rbm10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99KG3-1",
            "evidence": [
                {
                    "id": "0111780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98175-1",
            "uniprot_ac": "P98175",
            "uniprot_id": "RBM10_HUMAN",
            "refseq_ac": "NP_001191397",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein 10",
                    "type": "recommended"
                },
                {
                    "name": "G patch domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "G-patch domain containing 9",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein 10",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 10 isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein S1-1",
                    "type": "synonym"
                },
                {
                    "name": "S1-1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "g patch domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger RANBP2-type containing 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RBM10",
                    "type": "recommended"
                },
                {
                    "name": "DXS8237E",
                    "type": "synonym"
                },
                {
                    "name": "GPATC9",
                    "type": "synonym"
                },
                {
                    "name": "GPATCH9",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0122",
                    "type": "synonym"
                },
                {
                    "name": "MINAS-60",
                    "type": "synonym"
                },
                {
                    "name": "RBM10",
                    "type": "synonym"
                },
                {
                    "name": "S1-1",
                    "type": "synonym"
                },
                {
                    "name": "TARPS",
                    "type": "synonym"
                },
                {
                    "name": "ZRANB5",
                    "type": "synonym"
                }
            ],
            "record_id": "P98175-1",
            "evidence": [
                {
                    "id": "311900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/311900"
                },
                {
                    "id": "0111780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70501-1",
            "uniprot_ac": "P70501",
            "uniprot_id": "RBM10_RAT",
            "refseq_ac": "NP_690600",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein 10",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 10",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 10",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein S1-1",
                    "type": "synonym"
                },
                {
                    "name": "S1-1 protein from liver",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbm10",
                    "type": "recommended"
                },
                {
                    "name": "Rbm10",
                    "type": "synonym"
                }
            ],
            "record_id": "P70501-1",
            "evidence": [
                {
                    "id": "0111780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A023GRW3-1",
            "uniprot_ac": "A0A023GRW3",
            "uniprot_id": "A0A023GRW3_DROME",
            "refseq_ac": "NP_608583",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein 5-A",
                    "type": "recommended"
                },
                {
                    "name": "CG4896-PD",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4896",
                    "type": "recommended"
                },
                {
                    "name": "CG4896",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4896",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4896",
                    "type": "synonym"
                },
                {
                    "name": "cg4896",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A023GRW3-1",
            "evidence": [
                {
                    "id": "0111780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPY4-1",
            "uniprot_ac": "Q9VPY4",
            "uniprot_id": "Q9VPY4_DROME",
            "refseq_ac": "NP_001259859",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein 5-A",
                    "type": "recommended"
                },
                {
                    "name": "CG4887-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4887",
                    "type": "recommended"
                },
                {
                    "name": "CG4887",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4887",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4887",
                    "type": "synonym"
                },
                {
                    "name": "cg4887",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPY4-1",
            "evidence": [
                {
                    "id": "0111780",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111780"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111780"
}