{
    "disease_id": "DOID:0050474",
    "recommended_name": {
        "id": "DOID:0050474",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050474",
        "name": "Netherton syndrome",
        "description": "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin."
    },
    "synonyms": [
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Netherton syndrome",
            "description": "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations."
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Coml-Netherton syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Ichthyosis, Netherton Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "NS",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Netherton syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "bamboo hair syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "neth",
            "description": ""
        },
        {
            "id": "MIM:256500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256500",
            "name": "Netherton syndrome",
            "description": "Netherton syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050474"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050474",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050474",
            "categories": []
        },
        {
            "id": "MONDO:0009735",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "categories": []
        },
        {
            "id": "MIM:256500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EZM1-1",
            "uniprot_ac": "E7EZM1",
            "uniprot_id": "E7EZM1_DANRE",
            "refseq_ac": "XP_073782044",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gba1",
                    "type": "recommended"
                },
                {
                    "name": "gba1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EZM1-1",
            "evidence": [
                {
                    "id": "0050474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17439-1",
            "uniprot_ac": "P17439",
            "uniprot_id": "GBA1_MOUSE",
            "refseq_ac": "NP_001070879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal acid glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.46",
                    "type": "synonym"
                },
                {
                    "name": "Acid beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl-beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "D-glucosyl-N-acylsphingosine glucohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal acid GCase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "SGTase",
                    "type": "synonym"
                },
                {
                    "name": "acid beta glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl-beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase, beta, acid",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid GCase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal glycosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba1",
                    "type": "recommended"
                },
                {
                    "name": "GCase",
                    "type": "synonym"
                },
                {
                    "name": "GC",
                    "type": "synonym"
                },
                {
                    "name": "GLUC",
                    "type": "synonym"
                },
                {
                    "name": "Gba1",
                    "type": "synonym"
                },
                {
                    "name": "Gba",
                    "type": "synonym"
                },
                {
                    "name": "betaGC",
                    "type": "synonym"
                }
            ],
            "record_id": "P17439-1",
            "evidence": [
                {
                    "id": "0050474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQ38-1",
            "uniprot_ac": "Q9NQ38",
            "uniprot_id": "ISK5_HUMAN",
            "refseq_ac": "NP_001121170",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease inhibitor Kazal-type 5",
                    "type": "recommended"
                },
                {
                    "name": "LEKTI isoform",
                    "type": "synonym"
                },
                {
                    "name": "LEKTI",
                    "type": "synonym"
                },
                {
                    "name": "Lympho-epithelial Kazal-type-related inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "lympho-epithelial Kazal-type-related inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "lymphoepithelial Kazal-type-related inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 5 isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPINK5",
                    "type": "recommended"
                },
                {
                    "name": "LEKTI",
                    "type": "synonym"
                },
                {
                    "name": "LETKI",
                    "type": "synonym"
                },
                {
                    "name": "NETS",
                    "type": "synonym"
                },
                {
                    "name": "NS",
                    "type": "synonym"
                },
                {
                    "name": "SPINK5",
                    "type": "synonym"
                },
                {
                    "name": "VAKTI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQ38-1",
            "evidence": [
                {
                    "id": "256500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256500"
                },
                {
                    "id": "0050474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZET2-1",
            "uniprot_ac": "D3ZET2",
            "uniprot_id": "D3ZET2_RAT",
            "refseq_ac": "NP_001164077",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine peptidase inhibitor, Kazal type 5",
                    "type": "synonym"
                },
                {
                    "name": "lymphoepithelial Kazal-type-related inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 5-like",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor, Kazal type 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spink5",
                    "type": "recommended"
                },
                {
                    "name": "LEKTI",
                    "type": "synonym"
                },
                {
                    "name": "LETKI",
                    "type": "synonym"
                },
                {
                    "name": "Spink5",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZET2-1",
            "evidence": [
                {
                    "id": "0050474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R3L8-1",
            "uniprot_ac": "M0R3L8",
            "uniprot_id": "M0R3L8_RAT",
            "refseq_ac": "NP_001121111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase, beta, acid",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba1",
                    "type": "recommended"
                },
                {
                    "name": "Gba1",
                    "type": "synonym"
                },
                {
                    "name": "Gba",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R3L8-1",
            "evidence": [
                {
                    "id": "0050474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSK1-1",
            "uniprot_ac": "Q9VSK1",
            "uniprot_id": "Q9VSK1_DROME",
            "refseq_ac": "NP_729380",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kazal-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG32354-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG7159",
                    "type": "recommended"
                },
                {
                    "name": "BEST:CK01670",
                    "type": "synonym"
                },
                {
                    "name": "CG17355",
                    "type": "synonym"
                },
                {
                    "name": "CG32354",
                    "type": "synonym"
                },
                {
                    "name": "CG7027",
                    "type": "synonym"
                },
                {
                    "name": "CG7159",
                    "type": "synonym"
                },
                {
                    "name": "CK01670",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32354",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32354",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSK1-1",
            "evidence": [
                {
                    "id": "0050474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMY3-1",
            "uniprot_ac": "Q8IMY3",
            "uniprot_id": "Q8IMY3_DROME",
            "refseq_ac": "NP_001097888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "CG31414-PB",
                    "type": "synonym"
                },
                {
                    "name": "Gba1b-PB",
                    "type": "synonym"
                },
                {
                    "name": "glucocerebrosidase 1b, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba1b",
                    "type": "recommended"
                },
                {
                    "name": "CG10299",
                    "type": "synonym"
                },
                {
                    "name": "CG31414",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31414",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31414",
                    "type": "synonym"
                },
                {
                    "name": "GBA1b",
                    "type": "synonym"
                },
                {
                    "name": "GBA",
                    "type": "synonym"
                },
                {
                    "name": "Gba1b",
                    "type": "synonym"
                },
                {
                    "name": "dGBA1b",
                    "type": "synonym"
                },
                {
                    "name": "dGba1",
                    "type": "synonym"
                },
                {
                    "name": "gba2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMY3-1",
            "evidence": [
                {
                    "id": "0050474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCJ4-1",
            "uniprot_ac": "Q9VCJ4",
            "uniprot_id": "Q9VCJ4_DROME",
            "refseq_ac": "NP_651172",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "CG31148-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gba1a-PA",
                    "type": "synonym"
                },
                {
                    "name": "glucocerebrosidase 1a",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba1a",
                    "type": "recommended"
                },
                {
                    "name": "CG10299",
                    "type": "synonym"
                },
                {
                    "name": "CG31148",
                    "type": "synonym"
                },
                {
                    "name": "CT28913",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31148",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31148",
                    "type": "synonym"
                },
                {
                    "name": "GBA1a",
                    "type": "synonym"
                },
                {
                    "name": "GBA",
                    "type": "synonym"
                },
                {
                    "name": "Gba1a",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.234",
                    "type": "synonym"
                },
                {
                    "name": "dGBA1a",
                    "type": "synonym"
                },
                {
                    "name": "dGba1",
                    "type": "synonym"
                },
                {
                    "name": "gba1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCJ4-1",
            "evidence": [
                {
                    "id": "0050474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04062-1",
            "uniprot_ac": "P04062",
            "uniprot_id": "GBA1_HUMAN",
            "refseq_ac": "NP_000148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal acid glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.46",
                    "type": "synonym"
                },
                {
                    "name": "Acid beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "Alglucerase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-GC",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucosylceramidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl-beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "D-glucosyl-N-acylsphingosine glucohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Glucosylceramidase beta 1",
                    "type": "synonym"
                },
                {
                    "name": "Imiglucerase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal acid GCase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "SGTase",
                    "type": "synonym"
                },
                {
                    "name": "acid beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "alglucerase",
                    "type": "synonym"
                },
                {
                    "name": "beta-GC",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucosylceramidase 1",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl-beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase, beta, acid",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "imiglucerase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid GCase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal acid glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal glucocerebrosidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal glycosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GBA1",
                    "type": "recommended"
                },
                {
                    "name": "GBA1",
                    "type": "synonym"
                },
                {
                    "name": "GBA",
                    "type": "synonym"
                },
                {
                    "name": "GCB",
                    "type": "synonym"
                },
                {
                    "name": "GC",
                    "type": "synonym"
                },
                {
                    "name": "GLUC",
                    "type": "synonym"
                }
            ],
            "record_id": "P04062-1",
            "evidence": [
                {
                    "id": "0050474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050474"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050474"
}