{
    "disease_id": "DOID:0110054",
    "recommended_name": {
        "id": "DOID:0110054",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110054",
        "name": "amelogenesis imperfecta type 1A",
        "description": "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110054",
            "name": "AI1A",
            "description": ""
        },
        {
            "id": "DOID:0110054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110054",
            "name": "amelogenesis imperfecta hypoplastic type IA",
            "description": ""
        },
        {
            "id": "DOID:0110054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110054",
            "name": "amelogenesis imperfecta type IA",
            "description": ""
        },
        {
            "id": "MONDO:0007094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007094",
            "name": "amelogenesis imperfecta type 1A",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene."
        },
        {
            "id": "MONDO:0007094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007094",
            "name": "AI1A",
            "description": ""
        },
        {
            "id": "MONDO:0007094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007094",
            "name": "LAMB3 amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0007094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007094",
            "name": "amelogenesis imperfecta caused by mutation in LAMB3",
            "description": ""
        },
        {
            "id": "MONDO:0007094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007094",
            "name": "amelogenesis imperfecta local hypoplastic",
            "description": ""
        },
        {
            "id": "MONDO:0007094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007094",
            "name": "amelogenesis imperfecta, type IA",
            "description": ""
        },
        {
            "id": "MONDO:0007094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007094",
            "name": "local hypoplastic amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MIM:104530",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/104530",
            "name": "Amelogenesis imperfecta 1A",
            "description": "Amelogenesis imperfecta 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110054"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110054",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110054",
            "categories": []
        },
        {
            "id": "MONDO:0007094",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007094",
            "categories": []
        },
        {
            "id": "MIM:104530",
            "database": "MIM",
            "url": "https://www.omim.org/entry/104530",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61087-1",
            "uniprot_ac": "Q61087",
            "uniprot_id": "LAMB3_MOUSE",
            "refseq_ac": "NP_001264857",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "Epiligrin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Kalinin B1 chain",
                    "type": "synonym"
                },
                {
                    "name": "Kalinin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-5 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Nicein subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "epiligrin subunit bata",
                    "type": "synonym"
                },
                {
                    "name": "epiligrin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "kalinin B1 chain",
                    "type": "synonym"
                },
                {
                    "name": "kalinin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "laminin-5 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nicein subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nicein, 125kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lamb3",
                    "type": "recommended"
                },
                {
                    "name": "Lamb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61087-1",
            "evidence": [
                {
                    "id": "0110054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13751-1",
            "uniprot_ac": "Q13751",
            "uniprot_id": "LAMB3_HUMAN",
            "refseq_ac": "NP_000219",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "Epiligrin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Kalinin B1 chain",
                    "type": "synonym"
                },
                {
                    "name": "Kalinin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin B1k chain",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-5 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Nicein subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "epiligrin subunit bata",
                    "type": "synonym"
                },
                {
                    "name": "epiligrin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "kalinin B1 chain",
                    "type": "synonym"
                },
                {
                    "name": "kalinin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "kalinin-140kDa",
                    "type": "synonym"
                },
                {
                    "name": "laminin B1k chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin S B3 chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin beta 3",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))",
                    "type": "synonym"
                },
                {
                    "name": "laminin-5 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nicein subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nicein-125kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAMB3",
                    "type": "recommended"
                },
                {
                    "name": "AI1A",
                    "type": "synonym"
                },
                {
                    "name": "BM600-125KDA",
                    "type": "synonym"
                },
                {
                    "name": "JEB1A",
                    "type": "synonym"
                },
                {
                    "name": "JEB1B",
                    "type": "synonym"
                },
                {
                    "name": "LAM5",
                    "type": "synonym"
                },
                {
                    "name": "LAMB3",
                    "type": "synonym"
                },
                {
                    "name": "LAMNB1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13751-1",
            "evidence": [
                {
                    "id": "104530",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/104530"
                },
                {
                    "id": "0110054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LPI5-1",
            "uniprot_ac": "F1LPI5",
            "uniprot_id": "F1LPI5_RAT",
            "refseq_ac": "NP_001094311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "Epiligrin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Kalinin B1 chain",
                    "type": "synonym"
                },
                {
                    "name": "Kalinin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-5 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Nicein subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin, beta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lamb3",
                    "type": "recommended"
                },
                {
                    "name": "Lamb3",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LPI5-1",
            "evidence": [
                {
                    "id": "0110054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110054"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110054"
}