{
    "disease_id": "DOID:0110064",
    "recommended_name": {
        "id": "DOID:0110064",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110064",
        "name": "amelogenesis imperfecta type 1H",
        "description": "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110064",
            "name": "AI1H",
            "description": ""
        },
        {
            "id": "DOID:0110064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110064",
            "name": "amelogenesis imperfecta type IH",
            "description": ""
        },
        {
            "id": "MONDO:0014540",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014540",
            "name": "amelogenesis imperfecta type 1H",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene."
        },
        {
            "id": "MONDO:0014540",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014540",
            "name": "AI1H",
            "description": ""
        },
        {
            "id": "MONDO:0014540",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014540",
            "name": "ITGB6 amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0014540",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014540",
            "name": "amelogenesis imperfecta caused by mutation in ITGB6",
            "description": ""
        },
        {
            "id": "MONDO:0014540",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014540",
            "name": "amelogenesis imperfecta, type IH",
            "description": ""
        },
        {
            "id": "MIM:616221",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616221",
            "name": "Amelogenesis imperfecta 1H",
            "description": "Amelogenesis imperfecta 1H"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110064"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110064",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110064",
            "categories": []
        },
        {
            "id": "MONDO:0014540",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014540",
            "categories": []
        },
        {
            "id": "MIM:616221",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616221",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QGX0-1",
            "uniprot_ac": "F1QGX0",
            "uniprot_id": "F1QGX0_DANRE",
            "refseq_ac": "XP_003199474",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin beta",
                    "type": "recommended"
                },
                {
                    "name": "integrin beta-6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "itgb6",
                    "type": "recommended"
                },
                {
                    "name": "itgb6",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QGX0-1",
            "evidence": [
                {
                    "id": "0110064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0T9-1",
            "uniprot_ac": "Q9Z0T9",
            "uniprot_id": "ITB6_MOUSE",
            "refseq_ac": "NP_001153036",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin beta-6",
                    "type": "recommended"
                },
                {
                    "name": "integrin beta-6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itgb6",
                    "type": "recommended"
                },
                {
                    "name": "2210409C20Rik",
                    "type": "synonym"
                },
                {
                    "name": "4831415H04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Itgb6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0T9-1",
            "evidence": [
                {
                    "id": "0110064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18564-1",
            "uniprot_ac": "P18564",
            "uniprot_id": "ITB6_HUMAN",
            "refseq_ac": "NP_000879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin beta-6",
                    "type": "recommended"
                },
                {
                    "name": "integrin beta-6 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "integrin, beta 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITGB6",
                    "type": "recommended"
                },
                {
                    "name": "AI1H",
                    "type": "synonym"
                },
                {
                    "name": "ITGB6",
                    "type": "synonym"
                }
            ],
            "record_id": "P18564-1",
            "evidence": [
                {
                    "id": "616221",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616221"
                },
                {
                    "id": "0110064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYF4-1",
            "uniprot_ac": "Q6AYF4",
            "uniprot_id": "ITB6_RAT",
            "refseq_ac": "NP_001004263",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin beta-6",
                    "type": "recommended"
                },
                {
                    "name": "integrin beta 6",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta-6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itgb6",
                    "type": "recommended"
                },
                {
                    "name": "Itgb6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYF4-1",
            "evidence": [
                {
                    "id": "0110064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11584-1",
            "uniprot_ac": "P11584",
            "uniprot_id": "ITBX_DROME",
            "refseq_ac": "NP_001284998",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin beta-PS",
                    "type": "recommended"
                },
                {
                    "name": "CG1560-PC",
                    "type": "synonym"
                },
                {
                    "name": "Integrin-betaPS",
                    "type": "synonym"
                },
                {
                    "name": "Myospheroid/betaPS integrin",
                    "type": "synonym"
                },
                {
                    "name": "PS integrin beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "PS-beta-integrin",
                    "type": "synonym"
                },
                {
                    "name": "PSbeta-integrin",
                    "type": "synonym"
                },
                {
                    "name": "Position-specific antigen beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Protein myospheroid",
                    "type": "synonym"
                },
                {
                    "name": "Protein olfactory C",
                    "type": "synonym"
                },
                {
                    "name": "beta PS integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-PS integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-PS-Integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-PS1 integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta1 integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta1-integrin",
                    "type": "synonym"
                },
                {
                    "name": "betaIntegrin",
                    "type": "synonym"
                },
                {
                    "name": "betaPS integrin subunit",
                    "type": "synonym"
                },
                {
                    "name": "betaPS integrin",
                    "type": "synonym"
                },
                {
                    "name": "betaPS-Integrin",
                    "type": "synonym"
                },
                {
                    "name": "betaPS.*integrin",
                    "type": "synonym"
                },
                {
                    "name": "betaPS",
                    "type": "synonym"
                },
                {
                    "name": "beta[[PS]] integrin subunit",
                    "type": "synonym"
                },
                {
                    "name": "beta[[PS]] integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta[[PS]]-integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta[[mys]]-integrin",
                    "type": "synonym"
                },
                {
                    "name": "integrin PSbeta",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta1",
                    "type": "synonym"
                },
                {
                    "name": "integrin betaPS subunit",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta[[PS]] subunit",
                    "type": "synonym"
                },
                {
                    "name": "integrin betaps",
                    "type": "synonym"
                },
                {
                    "name": "integrinbeta",
                    "type": "synonym"
                },
                {
                    "name": "lethal myospheroid",
                    "type": "synonym"
                },
                {
                    "name": "lethal(1)93 pupal",
                    "type": "synonym"
                },
                {
                    "name": "lethal(1)myospheroid",
                    "type": "synonym"
                },
                {
                    "name": "myo-spheroid",
                    "type": "synonym"
                },
                {
                    "name": "myospheriod",
                    "type": "synonym"
                },
                {
                    "name": "myospheroid, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "mys-PC",
                    "type": "synonym"
                },
                {
                    "name": "non-jumper-42",
                    "type": "synonym"
                },
                {
                    "name": "olfactory C",
                    "type": "synonym"
                },
                {
                    "name": "olfactory-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mys",
                    "type": "recommended"
                },
                {
                    "name": "BetaPS-Int",
                    "type": "synonym"
                },
                {
                    "name": "BetaPS",
                    "type": "synonym"
                },
                {
                    "name": "CG1560",
                    "type": "synonym"
                },
                {
                    "name": "CT40473",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1560",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1560",
                    "type": "synonym"
                },
                {
                    "name": "EM28",
                    "type": "synonym"
                },
                {
                    "name": "Integrin beta",
                    "type": "synonym"
                },
                {
                    "name": "ItgbPS",
                    "type": "synonym"
                },
                {
                    "name": "MAb6G11",
                    "type": "synonym"
                },
                {
                    "name": "Mys",
                    "type": "synonym"
                },
                {
                    "name": "PS integrin",
                    "type": "synonym"
                },
                {
                    "name": "PS[[beta]]",
                    "type": "synonym"
                },
                {
                    "name": "PSbeta",
                    "type": "synonym"
                },
                {
                    "name": "PS",
                    "type": "synonym"
                },
                {
                    "name": "bPS",
                    "type": "synonym"
                },
                {
                    "name": "b[[PS]]",
                    "type": "synonym"
                },
                {
                    "name": "beta integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Int",
                    "type": "synonym"
                },
                {
                    "name": "beta-PS-integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-PS",
                    "type": "synonym"
                },
                {
                    "name": "beta-integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-int",
                    "type": "synonym"
                },
                {
                    "name": "beta1",
                    "type": "synonym"
                },
                {
                    "name": "betaInt",
                    "type": "synonym"
                },
                {
                    "name": "betaPS Int",
                    "type": "synonym"
                },
                {
                    "name": "betaPS integrin",
                    "type": "synonym"
                },
                {
                    "name": "betaPS-Integrin",
                    "type": "synonym"
                },
                {
                    "name": "betaPS-integrin",
                    "type": "synonym"
                },
                {
                    "name": "betaPS1",
                    "type": "synonym"
                },
                {
                    "name": "betaPS",
                    "type": "synonym"
                },
                {
                    "name": "beta[[PS]]-integrin",
                    "type": "synonym"
                },
                {
                    "name": "beta[[PS]]",
                    "type": "synonym"
                },
                {
                    "name": "beta[[P]]S",
                    "type": "synonym"
                },
                {
                    "name": "beta[[mys]]",
                    "type": "synonym"
                },
                {
                    "name": "betamys",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta[[PS]]",
                    "type": "synonym"
                },
                {
                    "name": "l(1)7Db",
                    "type": "synonym"
                },
                {
                    "name": "l(1)7Dn",
                    "type": "synonym"
                },
                {
                    "name": "l(1)93p",
                    "type": "synonym"
                },
                {
                    "name": "l(1)968",
                    "type": "synonym"
                },
                {
                    "name": "l(1)DA551",
                    "type": "synonym"
                },
                {
                    "name": "l(1)EM28",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0233",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0281",
                    "type": "synonym"
                },
                {
                    "name": "l(1)mys",
                    "type": "synonym"
                },
                {
                    "name": "mys",
                    "type": "synonym"
                },
                {
                    "name": "nj42",
                    "type": "synonym"
                },
                {
                    "name": "olfC",
                    "type": "synonym"
                }
            ],
            "record_id": "P11584-1",
            "evidence": [
                {
                    "id": "0110064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110064"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110064"
}