{
    "disease_id": "DOID:0061112",
    "recommended_name": {
        "id": "DOID:0061112",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061112",
        "name": "retinitis pigmentosa 95",
        "description": "A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0061112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061112",
            "name": "RP95",
            "description": ""
        },
        {
            "id": "MONDO:0859308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859308",
            "name": "retinitis pigmentosa 95",
            "description": ""
        },
        {
            "id": "MIM:620102",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620102",
            "name": "Retinitis pigmentosa 95",
            "description": "Retinitis pigmentosa 95"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061112"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061112",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061112",
            "categories": []
        },
        {
            "id": "MONDO:0859308",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859308",
            "categories": []
        },
        {
            "id": "MIM:620102",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620102",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96IS3-1",
            "uniprot_ac": "Q96IS3",
            "uniprot_id": "RAX2_HUMAN",
            "refseq_ac": "NP_001306003",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retina and anterior neural fold homeobox protein 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Q50-type retinal homeobox protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Retina and anterior neural fold homeobox-like protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "retina and anterior neural fold homeobox like 1; Q50-type retinal homeobox protein; retina and anterior neural fold homeobox-like protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "retina and anterior neural fold homeobox protein 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAX2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ARMD6; CORD11; QRX; RAXL1; RP95",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "QRX",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAX2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RAXL1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "620102",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620102"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061112"
}