{
    "disease_id": "DOID:0050529",
    "recommended_name": {
        "id": "DOID:0050529",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050529",
        "name": "adult spinal muscular atrophy",
        "description": "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons."
    },
    "synonyms": [
        {
            "id": "DOID:0050529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050529",
            "name": "SMA4",
            "description": ""
        },
        {
            "id": "DOID:0050529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050529",
            "name": "SPINAL MUSCULAR ATROPHY, ADULT FORM",
            "description": ""
        },
        {
            "id": "DOID:0050529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050529",
            "name": "SPINAL MUSCULAR ATROPHY, TYPE IV",
            "description": ""
        },
        {
            "id": "DOID:0050529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050529",
            "name": "spinal muscular atrophy 4",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "spinal muscular atrophy, type IV",
            "description": "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "SMA type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "SMA type IV",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "SMA-IV",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "SMA4",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "spinal muscular atrophy of adults",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "spinal muscular atrophy, adult form",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "spinal muscular atrophy, type IV",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "spinal muscular atrophy-4",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "SMA 4",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "adult-onset spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "spinal muscular atrophy 4",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "spinal muscular atrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "name": "spinal muscular atrophy, proximal, adult, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:271150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/271150",
            "name": "Spinal muscular atrophy 4",
            "description": "Spinal muscular atrophy 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050529"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050529",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050529",
            "categories": []
        },
        {
            "id": "MONDO:0010056",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010056",
            "categories": []
        },
        {
            "id": "MIM:271150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/271150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9W6S8-1",
            "uniprot_ac": "Q9W6S8",
            "uniprot_id": "SMN1_DANRE",
            "refseq_ac": "NP_571266",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Survival motor neuron protein 1",
                    "type": "recommended"
                },
                {
                    "name": "survival motor neuron 1",
                    "type": "synonym"
                },
                {
                    "name": "survival motor neuron protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smn1",
                    "type": "recommended"
                },
                {
                    "name": "fa12d01",
                    "type": "synonym"
                },
                {
                    "name": "smn1",
                    "type": "synonym"
                },
                {
                    "name": "smn",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa12d01",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W6S8-1",
            "evidence": [
                {
                    "id": "0050529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97801-1",
            "uniprot_ac": "P97801",
            "uniprot_id": "SMN_MOUSE",
            "refseq_ac": "NP_001239558",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Survival motor neuron protein",
                    "type": "recommended"
                },
                {
                    "name": "survival motor neuron protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "survival motor neuron protein",
                    "type": "synonym"
                },
                {
                    "name": "survival of motor neuron protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smn1",
                    "type": "recommended"
                },
                {
                    "name": "Gemin1",
                    "type": "synonym"
                },
                {
                    "name": "Smn1",
                    "type": "synonym"
                },
                {
                    "name": "Smn",
                    "type": "synonym"
                }
            ],
            "record_id": "P97801-1",
            "evidence": [
                {
                    "id": "0050529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16637-1",
            "uniprot_ac": "Q16637",
            "uniprot_id": "SMN_HUMAN",
            "refseq_ac": "NP_000335",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Survival motor neuron protein",
                    "type": "recommended"
                },
                {
                    "name": "Component of gems 1",
                    "type": "synonym"
                },
                {
                    "name": "Gemin-1",
                    "type": "synonym"
                },
                {
                    "name": "component of gems 1",
                    "type": "synonym"
                },
                {
                    "name": "gemin-1",
                    "type": "synonym"
                },
                {
                    "name": "survival motor neuron 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "survival motor neuron protein isoform d",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain containing 16A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMN1",
                    "type": "recommended"
                },
                {
                    "name": "SMN2",
                    "type": "recommended"
                },
                {
                    "name": "BCD541",
                    "type": "synonym"
                },
                {
                    "name": "GEMIN1",
                    "type": "synonym"
                },
                {
                    "name": "SMA1",
                    "type": "synonym"
                },
                {
                    "name": "SMA2",
                    "type": "synonym"
                },
                {
                    "name": "SMA3",
                    "type": "synonym"
                },
                {
                    "name": "SMA4",
                    "type": "synonym"
                },
                {
                    "name": "SMA@",
                    "type": "synonym"
                },
                {
                    "name": "SMA",
                    "type": "synonym"
                },
                {
                    "name": "SMN1",
                    "type": "synonym"
                },
                {
                    "name": "SMN2",
                    "type": "synonym"
                },
                {
                    "name": "SMNC",
                    "type": "synonym"
                },
                {
                    "name": "SMNT",
                    "type": "synonym"
                },
                {
                    "name": "SMN",
                    "type": "synonym"
                },
                {
                    "name": "T-BCD541",
                    "type": "synonym"
                },
                {
                    "name": "TDRD16A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16637-1",
            "evidence": [
                {
                    "id": "271150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/271150"
                },
                {
                    "id": "0050529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35876-1",
            "uniprot_ac": "O35876",
            "uniprot_id": "SMN_RAT",
            "refseq_ac": "NP_071954",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Survival motor neuron protein",
                    "type": "recommended"
                },
                {
                    "name": "survival motor neuron 1",
                    "type": "synonym"
                },
                {
                    "name": "survival motor neuron protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smn1",
                    "type": "recommended"
                },
                {
                    "name": "Smn1",
                    "type": "synonym"
                },
                {
                    "name": "Smn",
                    "type": "synonym"
                }
            ],
            "record_id": "O35876-1",
            "evidence": [
                {
                    "id": "0050529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV74-1",
            "uniprot_ac": "Q9VV74",
            "uniprot_id": "SMN_DROME",
            "refseq_ac": "NP_001261954",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Survival motor neuron protein",
                    "type": "recommended"
                },
                {
                    "name": "CG16725-PB",
                    "type": "synonym"
                },
                {
                    "name": "Smn-PB",
                    "type": "synonym"
                },
                {
                    "name": "survival motor neuron, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "survival motor neuron",
                    "type": "synonym"
                },
                {
                    "name": "survival of motor neurons",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smn",
                    "type": "recommended"
                },
                {
                    "name": "CG16725",
                    "type": "synonym"
                },
                {
                    "name": "DmSMN",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16725",
                    "type": "synonym"
                },
                {
                    "name": "SMN",
                    "type": "synonym"
                },
                {
                    "name": "Smn",
                    "type": "synonym"
                },
                {
                    "name": "dSMN",
                    "type": "synonym"
                },
                {
                    "name": "dSmn",
                    "type": "synonym"
                },
                {
                    "name": "l(3)73Ao",
                    "type": "synonym"
                },
                {
                    "name": "smn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV74-1",
            "evidence": [
                {
                    "id": "0050529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050529"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050529"
}