{
    "disease_id": "DOID:0110056",
    "recommended_name": {
        "id": "DOID:0110056",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110056",
        "name": "amelogenesis imperfecta type 1C",
        "description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM)."
    },
    "synonyms": [
        {
            "id": "DOID:0110056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110056",
            "name": "autosomal recessive amelogenesis imperfecta local hypoplastic type",
            "description": ""
        },
        {
            "id": "DOID:0110056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110056",
            "name": "AI1C",
            "description": ""
        },
        {
            "id": "DOID:0110056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110056",
            "name": "amelogenesis imperfecta type IC",
            "description": ""
        },
        {
            "id": "DOID:0110056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110056",
            "name": "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion",
            "description": ""
        },
        {
            "id": "MONDO:0008770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008770",
            "name": "amelogenesis imperfecta type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0008770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008770",
            "name": "AI1C",
            "description": ""
        },
        {
            "id": "MONDO:0008770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008770",
            "name": "amelogenesis imperfecta, type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0008770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008770",
            "name": "amelogenesis imperfecta, type IC",
            "description": ""
        },
        {
            "id": "MIM:204650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/204650",
            "name": "Amelogenesis imperfecta 1C",
            "description": "Amelogenesis imperfecta 1C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110056"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110056",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110056",
            "categories": []
        },
        {
            "id": "MONDO:0008770",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008770",
            "categories": []
        },
        {
            "id": "MIM:204650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/204650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O55196-1",
            "uniprot_ac": "O55196",
            "uniprot_id": "ENAM_MOUSE",
            "refseq_ac": "NP_059496",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enamelin",
                    "type": "recommended"
                },
                {
                    "name": "enamelin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Enam",
                    "type": "recommended"
                },
                {
                    "name": "Enam",
                    "type": "synonym"
                },
                {
                    "name": "abte",
                    "type": "synonym"
                }
            ],
            "record_id": "O55196-1",
            "evidence": [
                {
                    "id": "0110056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88879-1",
            "uniprot_ac": "O88879",
            "uniprot_id": "APAF_MOUSE",
            "refseq_ac": "NP_001036023",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptotic protease-activating factor 1",
                    "type": "recommended"
                },
                {
                    "name": "APAF-1",
                    "type": "synonym"
                },
                {
                    "name": "apoptotic protease-activating factor 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "apoptotic protease-activating factor 1",
                    "type": "synonym"
                },
                {
                    "name": "forebrain overgrowth",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apaf1",
                    "type": "recommended"
                },
                {
                    "name": "6230400I06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Apaf-1",
                    "type": "synonym"
                },
                {
                    "name": "Apaf1l",
                    "type": "synonym"
                },
                {
                    "name": "Apaf1",
                    "type": "synonym"
                },
                {
                    "name": "fog",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0413",
                    "type": "synonym"
                }
            ],
            "record_id": "O88879-1",
            "evidence": [
                {
                    "id": "0110056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRM1-1",
            "uniprot_ac": "Q9NRM1",
            "uniprot_id": "ENAM_HUMAN",
            "refseq_ac": "NP_114095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enamelin",
                    "type": "recommended"
                },
                {
                    "name": "amelogenesis imperfecta 2, hypocalcification (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "enamelin isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENAM",
                    "type": "recommended"
                },
                {
                    "name": "ADAI",
                    "type": "synonym"
                },
                {
                    "name": "AI1C",
                    "type": "synonym"
                },
                {
                    "name": "AIH2",
                    "type": "synonym"
                },
                {
                    "name": "ENAM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRM1-1",
            "evidence": [
                {
                    "id": "204650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/204650"
                },
                {
                    "id": "0110056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZIB0-1",
            "uniprot_ac": "D3ZIB0",
            "uniprot_id": "D3ZIB0_RAT",
            "refseq_ac": "NP_001099471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enamelin",
                    "type": "synonym"
                },
                {
                    "name": "enamelin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Enam",
                    "type": "recommended"
                },
                {
                    "name": "Enam",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZIB0-1",
            "evidence": [
                {
                    "id": "0110056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10687-1",
            "uniprot_ac": "P10687",
            "uniprot_id": "PLCB1_RAT",
            "refseq_ac": "NP_001071109",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-154",
                    "type": "synonym"
                },
                {
                    "name": "PLC-I",
                    "type": "synonym"
                },
                {
                    "name": "PLC-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-I",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-beta1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C, beta 1 (phosphoinositide-specific)",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C-I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcb1",
                    "type": "recommended"
                },
                {
                    "name": "PLC'1",
                    "type": "synonym"
                },
                {
                    "name": "PLCbeta1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphb",
                    "type": "synonym"
                },
                {
                    "name": "Plcb1",
                    "type": "synonym"
                },
                {
                    "name": "RATPHOSPHB",
                    "type": "synonym"
                }
            ],
            "record_id": "P10687-1",
            "evidence": [
                {
                    "id": "0110056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110056"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110056"
}