{
    "disease_id": "DOID:0110061",
    "recommended_name": {
        "id": "DOID:0110061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110061",
        "name": "amelogenesis imperfecta hypomaturation type 2A3",
        "description": "An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110061",
            "name": "AI2A3",
            "description": ""
        },
        {
            "id": "DOID:0110061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110061",
            "name": "amelogenesis imperfecta hypomaturation type IIA3",
            "description": ""
        },
        {
            "id": "DOID:0110061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110061",
            "name": "amelogenesis imperfecta type IIA3",
            "description": ""
        },
        {
            "id": "MONDO:0013181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013181",
            "name": "amelogenesis imperfecta hypomaturation type 2A3",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene."
        },
        {
            "id": "MONDO:0013181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013181",
            "name": "AI2A3",
            "description": ""
        },
        {
            "id": "MONDO:0013181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013181",
            "name": "WDR72 amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0013181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013181",
            "name": "amelogenesis imperfecta caused by mutation in WDR72",
            "description": ""
        },
        {
            "id": "MONDO:0013181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013181",
            "name": "amelogenesis imperfecta hypomaturation type 2A3",
            "description": ""
        },
        {
            "id": "MONDO:0013181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013181",
            "name": "amelogenesis imperfecta, type IIA3",
            "description": ""
        },
        {
            "id": "MONDO:0013181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013181",
            "name": "amelogenesis imperfecta, hypomaturation type, IIA3",
            "description": ""
        },
        {
            "id": "MIM:613211",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613211",
            "name": "Amelogenesis imperfecta, hypomaturation type, 2A3",
            "description": "Amelogenesis imperfecta, hypomaturation type, 2A3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110061"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110061",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110061",
            "categories": []
        },
        {
            "id": "MONDO:0013181",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013181",
            "categories": []
        },
        {
            "id": "MIM:613211",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613211",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "D3YYM4-1",
            "uniprot_ac": "D3YYM4",
            "uniprot_id": "WDR72_MOUSE",
            "refseq_ac": "NP_001028672",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 72",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 72 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 72",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr72",
                    "type": "recommended"
                },
                {
                    "name": "D230040E23",
                    "type": "synonym"
                },
                {
                    "name": "Wdr72",
                    "type": "synonym"
                }
            ],
            "record_id": "D3YYM4-1",
            "evidence": [
                {
                    "id": "0110061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3MJ13-1",
            "uniprot_ac": "Q3MJ13",
            "uniprot_id": "WDR72_HUMAN",
            "refseq_ac": "NP_877435",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 72",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 72 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 72",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDR72",
                    "type": "recommended"
                },
                {
                    "name": "AI2A3",
                    "type": "synonym"
                },
                {
                    "name": "WDR72",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3MJ13-1",
            "evidence": [
                {
                    "id": "613211",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613211"
                },
                {
                    "id": "0110061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GHQ1-1",
            "uniprot_ac": "A0A8I6GHQ1",
            "uniprot_id": "A0A8I6GHQ1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat domain 72",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr72",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GHQ1-1",
            "evidence": [
                {
                    "id": "0110061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W543-1",
            "uniprot_ac": "Q9W543",
            "uniprot_id": "Q9W543_DROME",
            "refseq_ac": "NP_001284797",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17766-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rabconnectin-3B, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Rabconnectin-3B, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rabconnectin-3beta",
                    "type": "synonym"
                },
                {
                    "name": "Rbcn-3B-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbcn-3B",
                    "type": "recommended"
                },
                {
                    "name": "CG17766",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17766",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17766",
                    "type": "synonym"
                },
                {
                    "name": "EG:86E4.3",
                    "type": "synonym"
                },
                {
                    "name": "FK39",
                    "type": "synonym"
                },
                {
                    "name": "Rbcn-3B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W543-1",
            "evidence": [
                {
                    "id": "0110061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110061"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110061"
}