{
    "disease_id": "DOID:0110357",
    "recommended_name": {
        "id": "DOID:0110357",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110357",
        "name": "retinitis pigmentosa 35",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110357",
            "name": "RP35",
            "description": ""
        },
        {
            "id": "MONDO:0012463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012463",
            "name": "retinitis pigmentosa 35",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene."
        },
        {
            "id": "MONDO:0012463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012463",
            "name": "RP35",
            "description": ""
        },
        {
            "id": "MONDO:0012463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012463",
            "name": "SEMA4A retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0012463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012463",
            "name": "retinitis pigmentosa 35",
            "description": ""
        },
        {
            "id": "MONDO:0012463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012463",
            "name": "retinitis pigmentosa caused by mutation in SEMA4A",
            "description": ""
        },
        {
            "id": "MONDO:0012463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012463",
            "name": "retinitis pigmentosa type 35",
            "description": ""
        },
        {
            "id": "MONDO:0012463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012463",
            "name": "RP 35",
            "description": ""
        },
        {
            "id": "MIM:610282",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610282",
            "name": "Retinitis pigmentosa 35",
            "description": "Retinitis pigmentosa 35"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110357"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110357",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110357",
            "categories": []
        },
        {
            "id": "MONDO:0012463",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012463",
            "categories": []
        },
        {
            "id": "MIM:610282",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610282",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BHW0-1",
            "uniprot_ac": "A0A8M2BHW0",
            "uniprot_id": "A0A8M2BHW0_DANRE",
            "refseq_ac": "XP_005170153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-4A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-4A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sema4ab",
                    "type": "recommended"
                },
                {
                    "name": "sema4ab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BHW0-1",
            "evidence": [
                {
                    "id": "0110357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62178-1",
            "uniprot_ac": "Q62178",
            "uniprot_id": "SEM4A_MOUSE",
            "refseq_ac": "NP_001156961",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-4A",
                    "type": "recommended"
                },
                {
                    "name": "Sema B",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-B",
                    "type": "synonym"
                },
                {
                    "name": "sema B",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-4A precursor",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-4A",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sema4a",
                    "type": "recommended"
                },
                {
                    "name": "SemB",
                    "type": "synonym"
                },
                {
                    "name": "Sema4a",
                    "type": "synonym"
                },
                {
                    "name": "Semab",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62178-1",
            "evidence": [
                {
                    "id": "0110357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H3S1-1",
            "uniprot_ac": "Q9H3S1",
            "uniprot_id": "SEM4A_HUMAN",
            "refseq_ac": "NP_001180229",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-4A",
                    "type": "recommended"
                },
                {
                    "name": "Sema B",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-B",
                    "type": "synonym"
                },
                {
                    "name": "sema B",
                    "type": "synonym"
                },
                {
                    "name": "sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-4A isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEMA4A",
                    "type": "recommended"
                },
                {
                    "name": "CORD10",
                    "type": "synonym"
                },
                {
                    "name": "PRO1317",
                    "type": "synonym"
                },
                {
                    "name": "RP35",
                    "type": "synonym"
                },
                {
                    "name": "SEMA4A",
                    "type": "synonym"
                },
                {
                    "name": "SEMAB",
                    "type": "synonym"
                },
                {
                    "name": "SEMB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H3S1-1",
            "evidence": [
                {
                    "id": "610282",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610282"
                },
                {
                    "id": "0110357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7F3I7-1",
            "uniprot_ac": "F7F3I7",
            "uniprot_id": "F7F3I7_RAT",
            "refseq_ac": "NP_001012078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-4A",
                    "type": "recommended"
                },
                {
                    "name": "Semaphorin-B",
                    "type": "synonym"
                },
                {
                    "name": "sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-4A precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sema4a",
                    "type": "recommended"
                },
                {
                    "name": "Sema4a",
                    "type": "synonym"
                }
            ],
            "record_id": "F7F3I7-1",
            "evidence": [
                {
                    "id": "0110357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24323-1",
            "uniprot_ac": "Q24323",
            "uniprot_id": "SEM2A_DROME",
            "refseq_ac": "NP_477507",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-2A",
                    "type": "recommended"
                },
                {
                    "name": "CG4700-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-Semaphorin II",
                    "type": "synonym"
                },
                {
                    "name": "Sema II",
                    "type": "synonym"
                },
                {
                    "name": "Sema-2a",
                    "type": "synonym"
                },
                {
                    "name": "Sema2a-PA",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-II",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin 2a, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin 2a",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin II",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin",
                    "type": "synonym"
                },
                {
                    "name": "semiphorin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sema2a",
                    "type": "recommended"
                },
                {
                    "name": "112/40",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD09561",
                    "type": "synonym"
                },
                {
                    "name": "CG4700",
                    "type": "synonym"
                },
                {
                    "name": "CT14922",
                    "type": "synonym"
                },
                {
                    "name": "D-Sema II",
                    "type": "synonym"
                },
                {
                    "name": "D-Sema-II",
                    "type": "synonym"
                },
                {
                    "name": "D-Sema2a",
                    "type": "synonym"
                },
                {
                    "name": "D-SemaII",
                    "type": "synonym"
                },
                {
                    "name": "D-semaII",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4700",
                    "type": "synonym"
                },
                {
                    "name": "Dsema-II",
                    "type": "synonym"
                },
                {
                    "name": "Sema-2a",
                    "type": "synonym"
                },
                {
                    "name": "Sema2a",
                    "type": "synonym"
                },
                {
                    "name": "SemaII",
                    "type": "synonym"
                },
                {
                    "name": "dSema-II",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03021",
                    "type": "synonym"
                },
                {
                    "name": "sema 2a",
                    "type": "synonym"
                },
                {
                    "name": "sema II",
                    "type": "synonym"
                },
                {
                    "name": "sema-2a",
                    "type": "synonym"
                },
                {
                    "name": "sema-II",
                    "type": "synonym"
                },
                {
                    "name": "sema2a",
                    "type": "synonym"
                },
                {
                    "name": "semaII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24323-1",
            "evidence": [
                {
                    "id": "0110357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110357"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110357"
}