{
    "disease_id": "DOID:0081370",
    "recommended_name": {
        "id": "DOID:0081370",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081370",
        "name": "LADD syndrome",
        "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers."
    },
    "synonyms": [
        {
            "id": "DOID:0081370",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081370",
            "name": "lacrimoauriculodentodigital syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081370",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081370",
            "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100302",
            "name": "LADD syndrome 1",
            "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene."
        },
        {
            "id": "MONDO:0100302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100302",
            "name": "LADD1",
            "description": ""
        },
        {
            "id": "MONDO:0100302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100302",
            "name": "lacrimoauriculodentodigital syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:149730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/149730",
            "name": "Lacrimo-auriculo-dento-digital syndrome 1",
            "description": "Lacrimo-auriculo-dento-digital syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0050331",
            "label": "lacrimoauriculodentodigital syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081371",
            "label": "lacrimoauriculodentodigital syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081372",
            "label": "lacrimoauriculodentodigital syndrome 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081372",
        "DOID:0050331",
        "DOID:0081371",
        "DOID:0081370"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081370",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081370",
            "categories": []
        },
        {
            "id": "MONDO:0100302",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100302",
            "categories": []
        },
        {
            "id": "MIM:149730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/149730",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P21802-1",
            "uniprot_ac": "P21802",
            "uniprot_id": "FGFR2_HUMAN",
            "refseq_ac": "NP_000132",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "BEK fibroblast growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-2",
                    "type": "synonym"
                },
                {
                    "name": "K-sam",
                    "type": "synonym"
                },
                {
                    "name": "KGFR",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "bacteria-expressed kinase",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine kinase, receptor like 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGFR2",
                    "type": "recommended"
                },
                {
                    "name": "BBDS",
                    "type": "synonym"
                },
                {
                    "name": "BEK",
                    "type": "synonym"
                },
                {
                    "name": "BFR-1",
                    "type": "synonym"
                },
                {
                    "name": "CD332",
                    "type": "synonym"
                },
                {
                    "name": "CEK3",
                    "type": "synonym"
                },
                {
                    "name": "CFD1",
                    "type": "synonym"
                },
                {
                    "name": "ECT1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR2",
                    "type": "synonym"
                },
                {
                    "name": "JWS",
                    "type": "synonym"
                },
                {
                    "name": "K-SAM",
                    "type": "synonym"
                },
                {
                    "name": "KGFR",
                    "type": "synonym"
                },
                {
                    "name": "KSAM",
                    "type": "synonym"
                },
                {
                    "name": "TK14",
                    "type": "synonym"
                },
                {
                    "name": "TK25",
                    "type": "synonym"
                }
            ],
            "record_id": "P21802-1",
            "evidence": [
                {
                    "id": "149730",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/149730"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081370"
}