{
    "disease_id": "DOID:0110055",
    "recommended_name": {
        "id": "DOID:0110055",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110055",
        "name": "amelogenesis imperfecta type 3A",
        "description": "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110055",
            "name": "ADHCAI",
            "description": ""
        },
        {
            "id": "DOID:0110055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110055",
            "name": "amelogenesis imperfecta hypomineralization type",
            "description": ""
        },
        {
            "id": "DOID:0110055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110055",
            "name": "amelogenesis imperfecta type III",
            "description": ""
        },
        {
            "id": "DOID:0110055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110055",
            "name": "autosomal dominant amelogenesis imperfecta hypocalcification type",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "amelogenesis imperfecta, type 3A",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene."
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "amelogenesis imperfecta hypomineralization type",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "amelogenesis imperfecta type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "amelogenesis imperfecta type III",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "ADHCAI",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "AI3",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "FAM83H amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "amelogenesis imperfecta caused by mutation in FAM83H",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "amelogenesis imperfecta, type 3A",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "AI3A",
            "description": ""
        },
        {
            "id": "MONDO:0007538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "name": "amelogenesis imperfecta, type III",
            "description": ""
        },
        {
            "id": "MIM:130900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/130900",
            "name": "Amelogenesis imperfecta 3A",
            "description": "Amelogenesis imperfecta 3A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110055"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110055",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110055",
            "categories": []
        },
        {
            "id": "MONDO:0007538",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007538",
            "categories": []
        },
        {
            "id": "MIM:130900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/130900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R9L2-1",
            "uniprot_ac": "F1R9L2",
            "uniprot_id": "F1R9L2_DANRE",
            "refseq_ac": "XP_693814",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein fam83ha",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein fam83ha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fam83ha",
                    "type": "recommended"
                },
                {
                    "name": "fam83ha",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R9L2-1",
            "evidence": [
                {
                    "id": "0110055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1LVV0-1",
            "uniprot_ac": "Q1LVV0",
            "uniprot_id": "FA83H_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FAM83H",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "fam83hb",
                    "type": "recommended"
                },
                {
                    "name": "fam83h",
                    "type": "recommended"
                },
                {
                    "name": "fa03f11",
                    "type": "synonym"
                },
                {
                    "name": "fam83h",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-199g17.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa03f11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LVV0-1",
            "evidence": [
                {
                    "id": "0110055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q148V8-1",
            "uniprot_ac": "Q148V8",
            "uniprot_id": "FA83H_MOUSE",
            "refseq_ac": "NP_001161725",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FAM83H",
                    "type": "recommended"
                },
                {
                    "name": "family with sequence similarity 83, member H",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM83H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fam83h",
                    "type": "recommended"
                },
                {
                    "name": "Fam83h",
                    "type": "synonym"
                },
                {
                    "name": "Sack1h",
                    "type": "synonym"
                }
            ],
            "record_id": "Q148V8-1",
            "evidence": [
                {
                    "id": "0110055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZRV2-1",
            "uniprot_ac": "Q6ZRV2",
            "uniprot_id": "FA83H_HUMAN",
            "refseq_ac": "NP_940890",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FAM83H",
                    "type": "recommended"
                },
                {
                    "name": "family with sequence similarity 83 member H",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM83H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAM83H",
                    "type": "recommended"
                },
                {
                    "name": "AI3A",
                    "type": "synonym"
                },
                {
                    "name": "AI3",
                    "type": "synonym"
                },
                {
                    "name": "FAM83H",
                    "type": "synonym"
                },
                {
                    "name": "SACK1H",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZRV2-1",
            "evidence": [
                {
                    "id": "130900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/130900"
                },
                {
                    "id": "0110055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K8J4-1",
            "uniprot_ac": "A0A0G2K8J4",
            "uniprot_id": "A0A0G2K8J4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Family with sequence similarity 83, member H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fam83h",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K8J4-1",
            "evidence": [
                {
                    "id": "0110055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110055"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110055"
}