{
    "disease_id": "DOID:0081372",
    "recommended_name": {
        "id": "DOID:0081372",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081372",
        "name": "lacrimoauriculodentodigital syndrome 3",
        "description": "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12."
    },
    "synonyms": [
        {
            "id": "DOID:0081372",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081372",
            "name": "Lacrimo-auriculo-dento-digital syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0859578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859578",
            "name": "lacrimoauriculodentodigital syndrome 3",
            "description": ""
        },
        {
            "id": "MIM:620193",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620193",
            "name": "Lacrimo-auriculo-dento-digital syndrome 3",
            "description": "Lacrimo-auriculo-dento-digital syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081372"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081372",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081372",
            "categories": []
        },
        {
            "id": "MONDO:0859578",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859578",
            "categories": []
        },
        {
            "id": "MIM:620193",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620193",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35565-1",
            "uniprot_ac": "O35565",
            "uniprot_id": "FGF10_MOUSE",
            "refseq_ac": "NP_032028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 10",
                    "type": "recommended"
                },
                {
                    "name": "FGF-10",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte growth factor 2",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 5a",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte growth factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf10",
                    "type": "recommended"
                },
                {
                    "name": "AEY17",
                    "type": "synonym"
                },
                {
                    "name": "Fgf-10",
                    "type": "synonym"
                },
                {
                    "name": "Fgf10",
                    "type": "synonym"
                },
                {
                    "name": "Fgf5a",
                    "type": "synonym"
                },
                {
                    "name": "Gsfaey17",
                    "type": "synonym"
                }
            ],
            "record_id": "O35565-1",
            "evidence": [
                {
                    "id": "0081372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081372"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15520-1",
            "uniprot_ac": "O15520",
            "uniprot_id": "FGF10_HUMAN",
            "refseq_ac": "NP_004456",
            "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 10",
                    "type": "recommended"
                },
                {
                    "name": "FGF-10",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte growth factor 2",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte growth factor 2",
                    "type": "synonym"
                },
                {
                    "name": "produced by fibroblasts of urinary bladder lamina propria",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF10",
                    "type": "recommended"
                },
                {
                    "name": "FGF10",
                    "type": "synonym"
                },
                {
                    "name": "LADD3",
                    "type": "synonym"
                }
            ],
            "record_id": "O15520-1",
            "evidence": [
                {
                    "id": "620193",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620193"
                },
                {
                    "id": "0081372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081372"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70492-1",
            "uniprot_ac": "P70492",
            "uniprot_id": "FGF10_RAT",
            "refseq_ac": "NP_037083",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 10",
                    "type": "recommended"
                },
                {
                    "name": "FGF-10",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 5a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf10",
                    "type": "recommended"
                },
                {
                    "name": "FGF-10",
                    "type": "synonym"
                },
                {
                    "name": "Fgf10",
                    "type": "synonym"
                },
                {
                    "name": "Fgf5a",
                    "type": "synonym"
                }
            ],
            "record_id": "P70492-1",
            "evidence": [
                {
                    "id": "0081372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081372"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11685-1",
            "uniprot_ac": "P11685",
            "uniprot_id": "PSPC_RAT",
            "refseq_ac": "NP_059038",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Surfactant protein C",
                    "type": "recommended"
                },
                {
                    "name": "Pulmonary surfactant-associated protein C",
                    "type": "synonym"
                },
                {
                    "name": "Pulmonary surfactant-associated proteolipid SPL(Val)",
                    "type": "synonym"
                },
                {
                    "name": "SP-C",
                    "type": "synonym"
                },
                {
                    "name": "Surfactant, pulmonary-associated protein C",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated protein C",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated proteolipid SPL(Val)",
                    "type": "synonym"
                },
                {
                    "name": "surfactant associated protein C",
                    "type": "synonym"
                },
                {
                    "name": "surfactant protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sftpc",
                    "type": "recommended"
                },
                {
                    "name": "SP-C",
                    "type": "synonym"
                },
                {
                    "name": "Sftp2",
                    "type": "synonym"
                },
                {
                    "name": "Sftpc",
                    "type": "synonym"
                }
            ],
            "record_id": "P11685-1",
            "evidence": [
                {
                    "id": "0081372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081372"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDT9-1",
            "uniprot_ac": "Q9VDT9",
            "uniprot_id": "Q9VDT9_DROME",
            "refseq_ac": "NP_732452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor",
                    "type": "recommended"
                },
                {
                    "name": "CG4608-PA",
                    "type": "synonym"
                },
                {
                    "name": "FGF",
                    "type": "synonym"
                },
                {
                    "name": "bnl-PA",
                    "type": "synonym"
                },
                {
                    "name": "branchless, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "branchless",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor protein",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor)",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bnl",
                    "type": "recommended"
                },
                {
                    "name": "BNL",
                    "type": "synonym"
                },
                {
                    "name": "Bnl/FGF",
                    "type": "synonym"
                },
                {
                    "name": "Bnl",
                    "type": "synonym"
                },
                {
                    "name": "Branchless",
                    "type": "synonym"
                },
                {
                    "name": "CG4608",
                    "type": "synonym"
                },
                {
                    "name": "DFGF",
                    "type": "synonym"
                },
                {
                    "name": "DmBnl",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4608",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4608",
                    "type": "synonym"
                },
                {
                    "name": "FGF-2",
                    "type": "synonym"
                },
                {
                    "name": "FGF",
                    "type": "synonym"
                },
                {
                    "name": "bnl",
                    "type": "synonym"
                },
                {
                    "name": "dFGF",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06916",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDT9-1",
            "evidence": [
                {
                    "id": "0081372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081372"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15528-1",
            "uniprot_ac": "O15528",
            "uniprot_id": "CP27B_HUMAN",
            "refseq_ac": "NP_000776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.18",
                    "type": "synonym"
                },
                {
                    "name": "1alpha(OH)ase",
                    "type": "synonym"
                },
                {
                    "name": "25 hydroxyvitamin D3-1-alpha hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25-OHD-1 alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25-hydroxyvitamin D(3) 1-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Calcidiol 1-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 subfamily XXVIIB polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450C1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450VD1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome p450 27B1",
                    "type": "synonym"
                },
                {
                    "name": "VD3 1A hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "calcidiol 1-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 subfamily XXVIIB polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 27, subfamily B, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450C1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450VD1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome p450 27B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP27B1",
                    "type": "recommended"
                },
                {
                    "name": "CP2B",
                    "type": "synonym"
                },
                {
                    "name": "CYP1ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "CYP1alpha",
                    "type": "synonym"
                },
                {
                    "name": "CYP1",
                    "type": "synonym"
                },
                {
                    "name": "CYP27B1",
                    "type": "synonym"
                },
                {
                    "name": "CYP27B",
                    "type": "synonym"
                },
                {
                    "name": "P450c1",
                    "type": "synonym"
                },
                {
                    "name": "PDDR",
                    "type": "synonym"
                },
                {
                    "name": "VDD1",
                    "type": "synonym"
                },
                {
                    "name": "VDDRI",
                    "type": "synonym"
                },
                {
                    "name": "VDDR",
                    "type": "synonym"
                }
            ],
            "record_id": "O15528-1",
            "evidence": [
                {
                    "id": "0081372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081372"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081372"
}