{
    "disease_id": "DOID:0111549",
    "recommended_name": {
        "id": "DOID:0111549",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111549",
        "name": "aplasia of lacrimal and salivary glands",
        "description": "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12."
    },
    "synonyms": [
        {
            "id": "DOID:0111549",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111549",
            "name": "congenital absence of lacrimal puncta and salivary glands",
            "description": ""
        },
        {
            "id": "DOID:0111549",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111549",
            "name": "ALSG",
            "description": ""
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "aplasia of lacrimal and salivary glands",
            "description": "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation."
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "ALSG",
            "description": ""
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "aplasia of lacrimal and salivary glands",
            "description": ""
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "congenital absence of lacrimal puncta and salivary glands",
            "description": ""
        },
        {
            "id": "MIM:180920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180920",
            "name": "Aplasia of lacrimal and salivary glands",
            "description": "Aplasia of lacrimal and salivary glands"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111549"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111549",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111549",
            "categories": []
        },
        {
            "id": "MONDO:0008397",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "categories": []
        },
        {
            "id": "MIM:180920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/180920",
            "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": "0111549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111549"
                }
            ]
        },
        {
            "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": "180920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/180920"
                },
                {
                    "id": "0111549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111549"
                }
            ]
        },
        {
            "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": "0111549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111549"
                }
            ]
        },
        {
            "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": "0111549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111549"
                }
            ]
        },
        {
            "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": "0111549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111549"
                }
            ]
        },
        {
            "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": "0111549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111549"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111549"
}