{
    "disease_id": "DOID:0050530",
    "recommended_name": {
        "id": "DOID:0050530",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050530",
        "name": "intermediate spinal muscular atrophy",
        "description": "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length 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:0050530",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050530",
            "name": "MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM",
            "description": ""
        },
        {
            "id": "DOID:0050530",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050530",
            "name": "MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE",
            "description": ""
        },
        {
            "id": "DOID:0050530",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050530",
            "name": "SMA II",
            "description": ""
        },
        {
            "id": "DOID:0050530",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050530",
            "name": "SMA2",
            "description": ""
        },
        {
            "id": "DOID:0050530",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050530",
            "name": "spinal muscular atrophy 2",
            "description": ""
        },
        {
            "id": "DOID:0050530",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050530",
            "name": "spinal muscular atrophy type II",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "spinal muscular atrophy, type II",
            "description": "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile 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:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "Intermediate spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "SMA type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "SMA type II",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "SMA-II",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "SMA2",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "chronic infantile spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "chronic spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "muscular atrophy, spinal, infantile chronic form",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "muscular atrophy, spinal, intermediate type",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "spinal muscular atrophy, type II",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "spinal muscular atrophy-2",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "Dubowitz disease",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "SMA II",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "spinal muscular atrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "name": "spinal muscular atrophy type II",
            "description": ""
        },
        {
            "id": "MIM:253550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253550",
            "name": "Spinal muscular atrophy 2",
            "description": "Spinal muscular atrophy 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050530"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050530",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050530",
            "categories": []
        },
        {
            "id": "MONDO:0009673",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009673",
            "categories": []
        },
        {
            "id": "MIM:253550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253550",
            "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": "0050530",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050530"
                }
            ]
        },
        {
            "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": "0050530",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050530"
                }
            ]
        },
        {
            "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": "253550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/253550"
                },
                {
                    "id": "0050530",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050530"
                }
            ]
        },
        {
            "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": "0050530",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050530"
                }
            ]
        },
        {
            "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": "0050530",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050530"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050530"
}