{
    "disease_id": "DOID:0050464",
    "recommended_name": {
        "id": "DOID:0050464",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050464",
        "name": "Farber lipogranulomatosis",
        "description": "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition."
    },
    "synonyms": [
        {
            "id": "DOID:0050464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050464",
            "name": "Farber disease",
            "description": ""
        },
        {
            "id": "DOID:0050464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050464",
            "name": "N-laurylsphingosine deacylase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050464",
            "name": "acid ceramidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "Farber lipogranulomatosis",
            "description": "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement."
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "Farber disease",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "Farber lipogranulomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "N-LAURYLSPHINGOSINE deacylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "acid ceramidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "FRBRL",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "Farber's disease",
            "description": ""
        },
        {
            "id": "MIM:228000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228000",
            "name": "Farber lipogranulomatosis",
            "description": "Farber lipogranulomatosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050464"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050464",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050464",
            "categories": []
        },
        {
            "id": "MONDO:0009218",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "categories": []
        },
        {
            "id": "MIM:228000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/228000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WV54-1",
            "uniprot_ac": "Q9WV54",
            "uniprot_id": "ASAH1_MOUSE",
            "refseq_ac": "NP_062708",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acid ceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.23",
                    "type": "synonym"
                },
                {
                    "name": "ACDase",
                    "type": "synonym"
                },
                {
                    "name": "AC",
                    "type": "synonym"
                },
                {
                    "name": "Acid CDase",
                    "type": "synonym"
                },
                {
                    "name": "Acylsphingosine deacylase",
                    "type": "synonym"
                },
                {
                    "name": "N-acylethanolamine hydrolase ASAH1",
                    "type": "synonym"
                },
                {
                    "name": "N-acylsphingosine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "acid CDase",
                    "type": "synonym"
                },
                {
                    "name": "acid ceramidase preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "acid ceramidase",
                    "type": "synonym"
                },
                {
                    "name": "acylsphingosine deacylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Asah1",
                    "type": "recommended"
                },
                {
                    "name": "2310081N20Rik",
                    "type": "synonym"
                },
                {
                    "name": "AC",
                    "type": "synonym"
                },
                {
                    "name": "Asah1",
                    "type": "synonym"
                },
                {
                    "name": "Asah",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WV54-1",
            "evidence": [
                {
                    "id": "0050464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13510-1",
            "uniprot_ac": "Q13510",
            "uniprot_id": "ASAH1_HUMAN",
            "refseq_ac": "NP_001120977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acid ceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.109",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.23",
                    "type": "synonym"
                },
                {
                    "name": "ACDase",
                    "type": "synonym"
                },
                {
                    "name": "AC",
                    "type": "synonym"
                },
                {
                    "name": "Acid CDase",
                    "type": "synonym"
                },
                {
                    "name": "Acylsphingosine deacylase",
                    "type": "synonym"
                },
                {
                    "name": "Glycosylceramide deacylase",
                    "type": "synonym"
                },
                {
                    "name": "N-acylethanolamine hydrolase ASAH1",
                    "type": "synonym"
                },
                {
                    "name": "N-acylsphingosine amidohydrolase (acid ceramidase) 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acylsphingosine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "PHP32",
                    "type": "synonym"
                },
                {
                    "name": "Putative 32 kDa heart protein",
                    "type": "synonym"
                },
                {
                    "name": "acid CDase",
                    "type": "synonym"
                },
                {
                    "name": "acid ceramidase isoform c",
                    "type": "synonym"
                },
                {
                    "name": "acylsphingosine deacylase",
                    "type": "synonym"
                },
                {
                    "name": "glycosylceramide deacylase",
                    "type": "synonym"
                },
                {
                    "name": "putative 32 kDa heart protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ASAH1",
                    "type": "recommended"
                },
                {
                    "name": "ACDase",
                    "type": "synonym"
                },
                {
                    "name": "AC",
                    "type": "synonym"
                },
                {
                    "name": "ASAH1",
                    "type": "synonym"
                },
                {
                    "name": "ASAH",
                    "type": "synonym"
                },
                {
                    "name": "HSD-33",
                    "type": "synonym"
                },
                {
                    "name": "HSD33",
                    "type": "synonym"
                },
                {
                    "name": "PHP32",
                    "type": "synonym"
                },
                {
                    "name": "PHP",
                    "type": "synonym"
                },
                {
                    "name": "SMAPME",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13510-1",
            "evidence": [
                {
                    "id": "0009218",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009218"
                },
                {
                    "id": "228000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/228000"
                },
                {
                    "id": "0050464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P7S1-1",
            "uniprot_ac": "Q6P7S1",
            "uniprot_id": "ASAH1_RAT",
            "refseq_ac": "NP_445859",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acid ceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.23",
                    "type": "synonym"
                },
                {
                    "name": "ACDase",
                    "type": "synonym"
                },
                {
                    "name": "AC",
                    "type": "synonym"
                },
                {
                    "name": "Acid CDase",
                    "type": "synonym"
                },
                {
                    "name": "Acylsphingosine deacylase",
                    "type": "synonym"
                },
                {
                    "name": "N-acylethanolamine hydrolase ASAH1",
                    "type": "synonym"
                },
                {
                    "name": "N-acylsphingosine amidohydrolase (acid ceramidase) 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acylsphingosine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "acid CDase",
                    "type": "synonym"
                },
                {
                    "name": "acid ceramidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "acid ceramidase",
                    "type": "synonym"
                },
                {
                    "name": "acylsphingosine deacylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Asah1",
                    "type": "recommended"
                },
                {
                    "name": "Asah1",
                    "type": "synonym"
                },
                {
                    "name": "Asah",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P7S1-1",
            "evidence": [
                {
                    "id": "0050464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050464"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050464"
}