{
    "disease_id": "DOID:0110062",
    "recommended_name": {
        "id": "DOID:0110062",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110062",
        "name": "amelogenesis imperfecta hypomaturation type 2A4",
        "description": "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110062",
            "name": "AI2A4",
            "description": ""
        },
        {
            "id": "DOID:0110062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110062",
            "name": "amelogenesis imperfecta hypomaturation type IIA4",
            "description": ""
        },
        {
            "id": "DOID:0110062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110062",
            "name": "amelogenesis imperfecta type IIA4",
            "description": ""
        },
        {
            "id": "MONDO:0013906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013906",
            "name": "amelogenesis imperfecta hypomaturation type 2A4",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene."
        },
        {
            "id": "MONDO:0013906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013906",
            "name": "AI2A4",
            "description": ""
        },
        {
            "id": "MONDO:0013906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013906",
            "name": "ODAPH amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0013906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013906",
            "name": "amelogenesis imperfecta caused by mutation in ODAPH",
            "description": ""
        },
        {
            "id": "MONDO:0013906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013906",
            "name": "amelogenesis imperfecta, type IIA4",
            "description": ""
        },
        {
            "id": "MONDO:0013906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013906",
            "name": "amelogenesis imperfecta, hypomaturation type, IIA4",
            "description": ""
        },
        {
            "id": "MIM:614832",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614832",
            "name": "Amelogenesis imperfecta, hypomaturation type, 2A4",
            "description": "Amelogenesis imperfecta, hypomaturation type, 2A4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110062"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110062",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110062",
            "categories": []
        },
        {
            "id": "MONDO:0013906",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013906",
            "categories": []
        },
        {
            "id": "MIM:614832",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614832",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "J3QNT8-1",
            "uniprot_ac": "J3QNT8",
            "uniprot_id": "J3QNT8_MOUSE",
            "refseq_ac": "NP_001171048",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Odontogenesis associated phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "odontogenesis associated phosphoprotein precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odaph",
                    "type": "recommended"
                },
                {
                    "name": "Gm1045-a",
                    "type": "synonym"
                },
                {
                    "name": "Gm1045-b",
                    "type": "synonym"
                },
                {
                    "name": "Gm1045",
                    "type": "synonym"
                },
                {
                    "name": "Odaph",
                    "type": "synonym"
                }
            ],
            "record_id": "J3QNT8-1",
            "evidence": [
                {
                    "id": "0110062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q17RF5-1",
            "uniprot_ac": "Q17RF5",
            "uniprot_id": "ODAPH_HUMAN",
            "refseq_ac": "NP_001193910",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Odontogenesis associated phosphoprotein",
                    "type": "recommended"
                },
                {
                    "name": "amelogenesis imperfecta type IIA4",
                    "type": "synonym"
                },
                {
                    "name": "odontogenesis associated phosphoprotein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C4orf26",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ODAPH",
                    "type": "recommended"
                },
                {
                    "name": "AI2A4",
                    "type": "synonym"
                },
                {
                    "name": "C4orf26",
                    "type": "synonym"
                },
                {
                    "name": "ODAPH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q17RF5-1",
            "evidence": [
                {
                    "id": "614832",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614832"
                },
                {
                    "id": "0110062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LSZ2-1",
            "uniprot_ac": "A0ABK0LSZ2",
            "uniprot_id": "A0ABK0LSZ2_RAT",
            "refseq_ac": "NP_001386514",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Odontogenesis associated phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "odontogenesis-associated phosphoprotein precursor",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C4orf26 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odaph",
                    "type": "recommended"
                },
                {
                    "name": "Odaph",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LSZ2-1",
            "evidence": [
                {
                    "id": "0110062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110062"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110062"
}