{
    "disease_id": "DOID:0111722",
    "recommended_name": {
        "id": "DOID:0111722",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111722",
        "name": "amelogenesis imperfecta type 3C",
        "description": "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111722",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111722",
            "name": "AI3C",
            "description": ""
        },
        {
            "id": "DOID:0111722",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111722",
            "name": "amelogenesis imperfecta type IIIC",
            "description": ""
        },
        {
            "id": "DOID:0111722",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111722",
            "name": "autosomal recessive amelogenesis imperfecta hypocalcification type",
            "description": ""
        },
        {
            "id": "MONDO:0032717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032717",
            "name": "amelogenesis imperfecta, type 3C",
            "description": ""
        },
        {
            "id": "MONDO:0032717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032717",
            "name": "AI3C",
            "description": ""
        },
        {
            "id": "MIM:618386",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618386",
            "name": "Amelogenesis imperfecta 3C",
            "description": "Amelogenesis imperfecta 3C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111722"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111722",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111722",
            "categories": []
        },
        {
            "id": "MONDO:0032717",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032717",
            "categories": []
        },
        {
            "id": "MIM:618386",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618386",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PGY8-1",
            "uniprot_ac": "A0A8M1PGY8",
            "uniprot_id": "A0A8M1PGY8_DANRE",
            "refseq_ac": "NP_996956",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RELT tumor necrosis factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor superfamily member 19L isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor superfamily member 19L precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 19L precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "relt",
                    "type": "recommended"
                },
                {
                    "name": "Tnfrsf19l",
                    "type": "synonym"
                },
                {
                    "name": "relt",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77246",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PGY8-1",
            "evidence": [
                {
                    "id": "0111722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BX43-1",
            "uniprot_ac": "Q8BX43",
            "uniprot_id": "TR19L_MOUSE",
            "refseq_ac": "NP_796047",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 19L",
                    "type": "recommended"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 19L isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 19L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Relt",
                    "type": "recommended"
                },
                {
                    "name": "E430021K24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Relt",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf19l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BX43-1",
            "evidence": [
                {
                    "id": "0111722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969Z4-1",
            "uniprot_ac": "Q969Z4",
            "uniprot_id": "TR19L_HUMAN",
            "refseq_ac": "NP_116260",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 19L",
                    "type": "recommended"
                },
                {
                    "name": "RELT tumor necrosis factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Receptor expressed in lymphoid tissues",
                    "type": "synonym"
                },
                {
                    "name": "receptor expressed in lymphoid tissues",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 19L isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RELT",
                    "type": "recommended"
                },
                {
                    "name": "AI3C",
                    "type": "synonym"
                },
                {
                    "name": "RELT",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF19L",
                    "type": "synonym"
                },
                {
                    "name": "TRLT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969Z4-1",
            "evidence": [
                {
                    "id": "618386",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618386"
                },
                {
                    "id": "0111722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111722"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LK59-1",
            "uniprot_ac": "A0ABK0LK59",
            "uniprot_id": "A0ABK0LK59_RAT",
            "refseq_ac": "XP_006229837",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 19L",
                    "type": "recommended"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 19L isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Relt",
                    "type": "recommended"
                },
                {
                    "name": "Relt",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf19l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LK59-1",
            "evidence": [
                {
                    "id": "0111722",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111722"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111722"
}