{
    "disease_id": "DOID:0050441",
    "recommended_name": {
        "id": "DOID:0050441",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050441",
        "name": "mucosulfatidosis",
        "description": "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes."
    },
    "synonyms": [
        {
            "id": "DOID:0050441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050441",
            "name": "Sulfatidosis, Juvenile, Austin Type",
            "description": ""
        },
        {
            "id": "DOID:0050441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050441",
            "name": "multiple sulfatase deficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "mucosulfatidosis",
            "description": "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus."
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "MSD",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "Multiple Sulfatase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "juvenile sulfatidosis, Austin type",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "mucosulfatidosis",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "multiple sulfatase deficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "sulfatidosis, juvenile, Austin type",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "juvenile sulfatidosis",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "multiple sulfatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "sulfatidosis juvenile, Austin type",
            "description": ""
        },
        {
            "id": "MIM:272200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/272200",
            "name": "Multiple sulfatase deficiency",
            "description": "Multiple sulfatase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050441"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050441",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050441",
            "categories": []
        },
        {
            "id": "MONDO:0010088",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "categories": []
        },
        {
            "id": "MIM:272200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/272200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QHA4-1",
            "uniprot_ac": "F1QHA4",
            "uniprot_id": "F1QHA4_DANRE",
            "refseq_ac": "XP_005166098",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formylglycine-generating enzyme",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.7",
                    "type": "synonym"
                },
                {
                    "name": "C-alpha-formylglycine-generating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfatase-modifying factor 1",
                    "type": "synonym"
                },
                {
                    "name": "formylglycine-generating enzyme isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sumf1",
                    "type": "recommended"
                },
                {
                    "name": "sumf1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136465",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QHA4-1",
            "evidence": [
                {
                    "id": "0050441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R0F3-1",
            "uniprot_ac": "Q8R0F3",
            "uniprot_id": "SUMF1_MOUSE",
            "refseq_ac": "NP_666049",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formylglycine-generating enzyme",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.7",
                    "type": "synonym"
                },
                {
                    "name": "C-alpha-formylglycine-generating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "FGE",
                    "type": "synonym"
                },
                {
                    "name": "Sulfatase-modifying factor 1",
                    "type": "synonym"
                },
                {
                    "name": "formylglycine-generating enzyme isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sumf1",
                    "type": "recommended"
                },
                {
                    "name": "FGE",
                    "type": "synonym"
                },
                {
                    "name": "Fge",
                    "type": "synonym"
                },
                {
                    "name": "Sumf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R0F3-1",
            "evidence": [
                {
                    "id": "0050441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15289-1",
            "uniprot_ac": "P15289",
            "uniprot_id": "ARSA_HUMAN",
            "refseq_ac": "NP_000478",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arylsulfatase A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.8",
                    "type": "synonym"
                },
                {
                    "name": "ASA",
                    "type": "synonym"
                },
                {
                    "name": "Cerebroside-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "arylsulfatase A isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "cerebroside-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARSA",
                    "type": "recommended"
                },
                {
                    "name": "ARSA",
                    "type": "synonym"
                },
                {
                    "name": "ASA",
                    "type": "synonym"
                },
                {
                    "name": "MLD",
                    "type": "synonym"
                }
            ],
            "record_id": "P15289-1",
            "evidence": [
                {
                    "id": "272200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/272200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15848-1",
            "uniprot_ac": "P15848",
            "uniprot_id": "ARSB_HUMAN",
            "refseq_ac": "NP_000037",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arylsulfatase B",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.12",
                    "type": "synonym"
                },
                {
                    "name": "ASB",
                    "type": "synonym"
                },
                {
                    "name": "G4S",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-4-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "arylsulfatase B isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARSB",
                    "type": "recommended"
                },
                {
                    "name": "ARSB",
                    "type": "synonym"
                },
                {
                    "name": "ASB",
                    "type": "synonym"
                },
                {
                    "name": "G4S",
                    "type": "synonym"
                },
                {
                    "name": "MPS6",
                    "type": "synonym"
                }
            ],
            "record_id": "P15848-1",
            "evidence": [
                {
                    "id": "272200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/272200"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NBK3-1",
            "uniprot_ac": "Q8NBK3",
            "uniprot_id": "SUMF1_HUMAN",
            "refseq_ac": "NP_001158146",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formylglycine-generating enzyme",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.7",
                    "type": "synonym"
                },
                {
                    "name": "C-alpha-formylglycine-generating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "FGE",
                    "type": "synonym"
                },
                {
                    "name": "FGly-generating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Sulfatase-modifying factor 1",
                    "type": "synonym"
                },
                {
                    "name": "formylglycine-generating enzyme isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SUMF1",
                    "type": "recommended"
                },
                {
                    "name": "AAPA3037",
                    "type": "synonym"
                },
                {
                    "name": "FGE",
                    "type": "synonym"
                },
                {
                    "name": "PRO9852",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0152",
                    "type": "synonym"
                },
                {
                    "name": "SUMF1",
                    "type": "synonym"
                },
                {
                    "name": "UNQ3037",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NBK3-1",
            "evidence": [
                {
                    "id": "0010088",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010088"
                },
                {
                    "id": "272200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/272200"
                },
                {
                    "id": "0050441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7I8-1",
            "uniprot_ac": "D4A7I8",
            "uniprot_id": "D4A7I8_RAT",
            "refseq_ac": "NP_001102109",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formylglycine-generating enzyme",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.7",
                    "type": "synonym"
                },
                {
                    "name": "C-alpha-formylglycine-generating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfatase-modifying factor 1",
                    "type": "synonym"
                },
                {
                    "name": "formylglycine-generating enzyme precursor",
                    "type": "synonym"
                },
                {
                    "name": "formylglycine-generating enzyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sumf1",
                    "type": "recommended"
                },
                {
                    "name": "Sumf1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7I8-1",
            "evidence": [
                {
                    "id": "0050441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0U6-1",
            "uniprot_ac": "Q9W0U6",
            "uniprot_id": "Q9W0U6_DROME",
            "refseq_ac": "NP_612003",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfatase-modifying factor enzyme-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7049-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7049",
                    "type": "recommended"
                },
                {
                    "name": "CG7049",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7049",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7049",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0U6-1",
            "evidence": [
                {
                    "id": "0050441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050441"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050441"
}