{
    "disease_id": "DOID:0050436",
    "recommended_name": {
        "id": "DOID:0050436",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050436",
        "name": "mulibrey nanism",
        "description": "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050436",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050436",
            "name": "MUL",
            "description": ""
        },
        {
            "id": "DOID:0050436",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050436",
            "name": "Mulibrey growth disorder",
            "description": ""
        },
        {
            "id": "DOID:0050436",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050436",
            "name": "Muscle-Liver-Brain-Eye Nanism",
            "description": ""
        },
        {
            "id": "DOID:0050436",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050436",
            "name": "PERICARDIAL CONSTRICTION AND GROWTH FAILURE",
            "description": ""
        },
        {
            "id": "DOID:0050436",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050436",
            "name": "Perheentupa Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009664",
            "name": "mulibrey nanism",
            "description": "A prenatal onset growth disorder with multiorgan manifestations."
        },
        {
            "id": "MONDO:0009664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009664",
            "name": "MUL",
            "description": ""
        },
        {
            "id": "MONDO:0009664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009664",
            "name": "Perheentupa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009664",
            "name": "mulibrey dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0009664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009664",
            "name": "mulibrey nanism",
            "description": ""
        },
        {
            "id": "MONDO:0009664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009664",
            "name": "muscle-liver-brain-eye nanism",
            "description": ""
        },
        {
            "id": "MONDO:0009664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009664",
            "name": "pericardial constriction and growth failure",
            "description": ""
        },
        {
            "id": "MONDO:0009664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009664",
            "name": "pericardial constriction-growth failure syndrome",
            "description": ""
        },
        {
            "id": "MIM:253250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253250",
            "name": "Mulibrey nanism",
            "description": "Mulibrey nanism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050436"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050436",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050436",
            "categories": []
        },
        {
            "id": "MONDO:0009664",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009664",
            "categories": []
        },
        {
            "id": "MIM:253250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B767-1",
            "uniprot_ac": "A0ACD6B767",
            "uniprot_id": "A0ACD6B767_DANRE",
            "refseq_ac": "XP_009303770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIM37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trim37",
                    "type": "recommended"
                },
                {
                    "name": "trim37",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B767-1",
            "evidence": [
                {
                    "id": "0050436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PCX9-1",
            "uniprot_ac": "Q6PCX9",
            "uniprot_id": "TRI37_MOUSE",
            "refseq_ac": "NP_932104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIM37",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM37 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM37",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM37",
                    "type": "synonym"
                },
                {
                    "name": "TRAF encompassing factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 37",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trim37",
                    "type": "recommended"
                },
                {
                    "name": "1110032A10Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810004E07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0898",
                    "type": "synonym"
                },
                {
                    "name": "MUL",
                    "type": "synonym"
                },
                {
                    "name": "TEF3",
                    "type": "synonym"
                },
                {
                    "name": "Trim37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PCX9-1",
            "evidence": [
                {
                    "id": "0050436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94972-1",
            "uniprot_ac": "O94972",
            "uniprot_id": "TRI37_HUMAN",
            "refseq_ac": "NP_001005207",
            "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 TRIM37",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM37 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM37",
                    "type": "synonym"
                },
                {
                    "name": "Mulibrey nanism protein",
                    "type": "synonym"
                },
                {
                    "name": "RING-B-box-coiled-coil protein",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM37",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 37",
                    "type": "synonym"
                },
                {
                    "name": "mulibrey nanism protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIM37",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0898",
                    "type": "synonym"
                },
                {
                    "name": "MUL",
                    "type": "synonym"
                },
                {
                    "name": "POB1",
                    "type": "synonym"
                },
                {
                    "name": "TEF3",
                    "type": "synonym"
                },
                {
                    "name": "TRIM37",
                    "type": "synonym"
                }
            ],
            "record_id": "O94972-1",
            "evidence": [
                {
                    "id": "253250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/253250"
                },
                {
                    "id": "0050436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LE63-1",
            "uniprot_ac": "A0ABK0LE63",
            "uniprot_id": "A0ABK0LE63_RAT",
            "refseq_ac": "XP_006247161",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIM37",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM37 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM37",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trim37",
                    "type": "recommended"
                },
                {
                    "name": "Trim37",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LE63-1",
            "evidence": [
                {
                    "id": "0050436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050436"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050436"
}