{
    "disease_id": "DOID:0081448",
    "recommended_name": {
        "id": "DOID:0081448",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081448",
        "name": "cone-rod dystrophy 22",
        "description": "A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0030440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030440",
            "name": "cone-rod dystrophy 22",
            "description": ""
        },
        {
            "id": "MONDO:0030440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030440",
            "name": "CORD22",
            "description": ""
        },
        {
            "id": "MIM:619531",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619531",
            "name": "Cone-rod dystrophy 22",
            "description": "Cone-rod dystrophy 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081448"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081448",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081448",
            "categories": []
        },
        {
            "id": "MONDO:0030440",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030440",
            "categories": []
        },
        {
            "id": "MIM:619531",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619531",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5W6-1",
            "uniprot_ac": "A0ACD6B5W6",
            "uniprot_id": "A0ACD6B5W6_DANRE",
            "refseq_ac": "XP_001918966",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tlcd3bb",
                    "type": "recommended"
                },
                {
                    "name": "tlcd3bb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5W6-1",
            "evidence": [
                {
                    "id": "0081448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BBE5-1",
            "uniprot_ac": "A0A8M2BBE5",
            "uniprot_id": "A0A8M2BBE5_DANRE",
            "refseq_ac": "NP_001417785",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TLC domain ceramide synthase 3Ba",
                    "type": "synonym"
                },
                {
                    "name": "TLC domain containing 3Ba",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 57 member Ba",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tlcd3ba",
                    "type": "recommended"
                },
                {
                    "name": "fam57ba",
                    "type": "synonym"
                },
                {
                    "name": "fb95d07",
                    "type": "synonym"
                },
                {
                    "name": "tlcd3ba",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb95d07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73225",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BBE5-1",
            "evidence": [
                {
                    "id": "0081448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TNV1-1",
            "uniprot_ac": "Q7TNV1",
            "uniprot_id": "TLC3B_MOUSE",
            "refseq_ac": "NP_001139819",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Protein FAM57B",
                    "type": "synonym"
                },
                {
                    "name": "TLC domain-containing protein 3B",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 57, member B",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM57B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tlcd3b",
                    "type": "recommended"
                },
                {
                    "name": "1500016O10Rik",
                    "type": "synonym"
                },
                {
                    "name": "A330104J06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fam57b",
                    "type": "synonym"
                },
                {
                    "name": "Tlcd3b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TNV1-1",
            "evidence": [
                {
                    "id": "0081448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q71RH2-1",
            "uniprot_ac": "Q71RH2",
            "uniprot_id": "TLC3B_HUMAN",
            "refseq_ac": "NP_001305433",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Protein FAM57B",
                    "type": "synonym"
                },
                {
                    "name": "TLC domain 3B",
                    "type": "synonym"
                },
                {
                    "name": "TLC domain ceramide synthase 3B",
                    "type": "synonym"
                },
                {
                    "name": "TLC domain-containing protein 3B",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 57 member B",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM57B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TLCD3B",
                    "type": "recommended"
                },
                {
                    "name": "CORD22",
                    "type": "synonym"
                },
                {
                    "name": "FAM57B",
                    "type": "synonym"
                },
                {
                    "name": "FP1188",
                    "type": "synonym"
                },
                {
                    "name": "TLCD3B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q71RH2-1",
            "evidence": [
                {
                    "id": "619531",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619531"
                },
                {
                    "id": "0081448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M6Q7-1",
            "uniprot_ac": "A0ABK0M6Q7",
            "uniprot_id": "A0ABK0M6Q7_RAT",
            "refseq_ac": "NP_001099766",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TLC domain ceramide synthase 3B",
                    "type": "synonym"
                },
                {
                    "name": "TLC domain containing 3B",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 57, member B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tlcd3b",
                    "type": "recommended"
                },
                {
                    "name": "Fam57b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308215",
                    "type": "synonym"
                },
                {
                    "name": "Tlcd3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M6Q7-1",
            "evidence": [
                {
                    "id": "0081448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3S7-1",
            "uniprot_ac": "Q9V3S7",
            "uniprot_id": "Q9V3S7_DROME",
            "refseq_ac": "NP_572622",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "TLC domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG17841-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG17841",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH12326",
                    "type": "synonym"
                },
                {
                    "name": "CG17841",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17841",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17841",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.12",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3S7-1",
            "evidence": [
                {
                    "id": "0081448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081448"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081448"
}