{
    "disease_id": "DOID:0111527",
    "recommended_name": {
        "id": "DOID:0111527",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111527",
        "name": "spinal muscular atrophy with progressive myoclonic epilepsy",
        "description": "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22."
    },
    "synonyms": [
        {
            "id": "DOID:0111527",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111527",
            "name": "Jankovic-Rivera syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111527",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111527",
            "name": "SMA-PME",
            "description": ""
        },
        {
            "id": "DOID:0111527",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111527",
            "name": "SMAPME",
            "description": ""
        },
        {
            "id": "DOID:0111527",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111527",
            "name": "hereditary myoclonus-progressive distal muscular atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome",
            "description": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus."
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "Jankovic-Rivera syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "hereditary myoclonus-progressive distal muscular atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "Jankovic Rivera syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "SMAPME",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "hereditary myoclonus and progressive distal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "myoclonus hereditary progressive distal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "name": "spinal muscular atrophy with progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MIM:159950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/159950",
            "name": "Spinal muscular atrophy with progressive myoclonic epilepsy",
            "description": "Spinal muscular atrophy with progressive myoclonic epilepsy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111527"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111527",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111527",
            "categories": []
        },
        {
            "id": "MONDO:0008045",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008045",
            "categories": []
        },
        {
            "id": "MIM:159950",
            "database": "MIM",
            "url": "https://www.omim.org/entry/159950",
            "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": "0111527",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111527"
                }
            ]
        },
        {
            "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": "159950",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/159950"
                },
                {
                    "id": "0111527",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111527"
                }
            ]
        },
        {
            "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": "0111527",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111527"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111527"
}