{
    "disease_id": "DOID:0070005",
    "recommended_name": {
        "id": "DOID:0070005",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070005",
        "name": "Seckel syndrome 9",
        "description": "A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070005",
            "name": "SCKL9",
            "description": ""
        },
        {
            "id": "MONDO:0014767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014767",
            "name": "Seckel syndrome 9",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene."
        },
        {
            "id": "MONDO:0014767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014767",
            "name": "SCKL9",
            "description": ""
        },
        {
            "id": "MONDO:0014767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014767",
            "name": "Seckel syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0014767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014767",
            "name": "Seckel syndrome caused by mutation in TRAIP",
            "description": ""
        },
        {
            "id": "MONDO:0014767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014767",
            "name": "Seckel syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014767",
            "name": "TRAIP Seckel syndrome",
            "description": ""
        },
        {
            "id": "MIM:616777",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616777",
            "name": "Seckel syndrome 9",
            "description": "Seckel syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070005"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070005",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070005",
            "categories": []
        },
        {
            "id": "MONDO:0014767",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014767",
            "categories": []
        },
        {
            "id": "MIM:616777",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616777",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VIG6-1",
            "uniprot_ac": "Q8VIG6",
            "uniprot_id": "TRAIP_MOUSE",
            "refseq_ac": "NP_035764",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRAIP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRAIP isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRAIP",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRAIP",
                    "type": "synonym"
                },
                {
                    "name": "TRAF-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Traip",
                    "type": "recommended"
                },
                {
                    "name": "Traip",
                    "type": "synonym"
                },
                {
                    "name": "Trip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VIG6-1",
            "evidence": [
                {
                    "id": "0070005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BWF2-1",
            "uniprot_ac": "Q9BWF2",
            "uniprot_id": "TRAIP_HUMAN",
            "refseq_ac": "NP_005870",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRAIP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRAIP",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 206",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRAIP",
                    "type": "synonym"
                },
                {
                    "name": "TRAF-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "ring finger protein 206",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAIP",
                    "type": "recommended"
                },
                {
                    "name": "RNF206",
                    "type": "synonym"
                },
                {
                    "name": "SCKL9",
                    "type": "synonym"
                },
                {
                    "name": "TRAIP",
                    "type": "synonym"
                },
                {
                    "name": "TRIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BWF2-1",
            "evidence": [
                {
                    "id": "616777",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616777"
                },
                {
                    "id": "0070005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WC52-1",
            "uniprot_ac": "B1WC52",
            "uniprot_id": "B1WC52_RAT",
            "refseq_ac": "NP_001102474",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRAIP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRAIP",
                    "type": "synonym"
                },
                {
                    "name": "TRAF-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Traip",
                    "type": "recommended"
                },
                {
                    "name": "Traip",
                    "type": "synonym"
                }
            ],
            "record_id": "B1WC52-1",
            "evidence": [
                {
                    "id": "0070005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070005"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070005"
}