{
    "disease_id": "DOID:0081231",
    "recommended_name": {
        "id": "DOID:0081231",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081231",
        "name": "autosomal recessive intellectual developmental disorder 70",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0032729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032729",
            "name": "intellectual developmental disorder, autosomal recessive 70",
            "description": ""
        },
        {
            "id": "MONDO:0032729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032729",
            "name": "MRT70",
            "description": ""
        },
        {
            "id": "MIM:618402",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618402",
            "name": "Intellectual developmental disorder, autosomal recessive 70",
            "description": "Intellectual developmental disorder, autosomal recessive 70"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081231"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081231",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081231",
            "categories": []
        },
        {
            "id": "MONDO:0032729",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032729",
            "categories": []
        },
        {
            "id": "MIM:618402",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618402",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T9U9-1",
            "uniprot_ac": "A0AB32T9U9",
            "uniprot_id": "A0AB32T9U9_DANRE",
            "refseq_ac": "NP_998112",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/Arginine-related protein 53",
                    "type": "synonym"
                },
                {
                    "name": "serine/Arginine-related protein 53 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rsrc1",
                    "type": "recommended"
                },
                {
                    "name": "rsrc1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85700",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T9U9-1",
            "evidence": [
                {
                    "id": "0081231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DBU6-1",
            "uniprot_ac": "Q9DBU6",
            "uniprot_id": "RSRC1_MOUSE",
            "refseq_ac": "NP_080098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/Arginine-related protein 53",
                    "type": "recommended"
                },
                {
                    "name": "Arginine/serine-rich coiled-coil protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SRrp53",
                    "type": "synonym"
                },
                {
                    "name": "arginine/serine-rich coiled-coil protein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/Arginine-related protein 53 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/Arginine-related protein 53",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsrc1",
                    "type": "recommended"
                },
                {
                    "name": "1200013F24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rsrc1",
                    "type": "synonym"
                },
                {
                    "name": "SRrp53",
                    "type": "synonym"
                },
                {
                    "name": "Srrp53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBU6-1",
            "evidence": [
                {
                    "id": "0081231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96IZ7-1",
            "uniprot_ac": "Q96IZ7",
            "uniprot_id": "RSRC1_HUMAN",
            "refseq_ac": "NP_001258763",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/Arginine-related protein 53",
                    "type": "recommended"
                },
                {
                    "name": "Arginine/serine-rich coiled-coil protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SRrp53",
                    "type": "synonym"
                },
                {
                    "name": "arginine/serine-rich coiled-coil 1",
                    "type": "synonym"
                },
                {
                    "name": "arginine/serine-rich coiled-coil protein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/Arginine-related protein 53 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/Arginine-related protein 53",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSRC1",
                    "type": "recommended"
                },
                {
                    "name": "BM-011",
                    "type": "synonym"
                },
                {
                    "name": "MRT70",
                    "type": "synonym"
                },
                {
                    "name": "RSRC1",
                    "type": "synonym"
                },
                {
                    "name": "SFRS21",
                    "type": "synonym"
                },
                {
                    "name": "SRRP53",
                    "type": "synonym"
                },
                {
                    "name": "SRrp53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96IZ7-1",
            "evidence": [
                {
                    "id": "618402",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618402"
                },
                {
                    "id": "0081231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PPJ2-1",
            "uniprot_ac": "Q5PPJ2",
            "uniprot_id": "RSRC1_RAT",
            "refseq_ac": "NP_001014194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/Arginine-related protein 53",
                    "type": "recommended"
                },
                {
                    "name": "Arginine/serine-rich coiled-coil protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SRrp53",
                    "type": "synonym"
                },
                {
                    "name": "arginine/serine-rich coiled-coil 1",
                    "type": "synonym"
                },
                {
                    "name": "arginine/serine-rich coiled-coil protein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/Arginine-related protein 53",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsrc1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1304968",
                    "type": "synonym"
                },
                {
                    "name": "Rsrc1",
                    "type": "synonym"
                },
                {
                    "name": "SRrp53",
                    "type": "synonym"
                },
                {
                    "name": "Srrp53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PPJ2-1",
            "evidence": [
                {
                    "id": "0081231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081231"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081231"
}