{
    "disease_id": "DOID:0111065",
    "recommended_name": {
        "id": "DOID:0111065",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111065",
        "name": "autosomal recessive distal hereditary motor neuronopathy 2",
        "description": "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111065",
            "name": "DSMA2",
            "description": ""
        },
        {
            "id": "DOID:0111065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111065",
            "name": "dHMNJ",
            "description": ""
        },
        {
            "id": "DOID:0111065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111065",
            "name": "distal hereditary motor neuropathy Jerash type",
            "description": ""
        },
        {
            "id": "DOID:0111065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111065",
            "name": "spinal muscular atrophy Jerash type",
            "description": ""
        },
        {
            "id": "DOID:0111065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111065",
            "name": "autosomal recessive distal spinal muscular atrophy 2",
            "description": ""
        },
        {
            "id": "DOID:0111065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111065",
            "name": "distal spinal muscular atrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "autosomal recessive distal spinal muscular atrophy 2",
            "description": "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)."
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "DSMA2",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "autosomal recessive distal spinal muscular atrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "dHMNJ",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "spinal muscular atrophy, distal, autosomal recessive, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "HMNJ",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "MNDJ",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "hereditary motor neuropathy, Jerash type",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "motor neuropathy, distal, Jerash type",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "neuropathy, distal hereditary motor, Jerash type",
            "description": ""
        },
        {
            "id": "MONDO:0011585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "name": "spinal muscular atrophy, distal, autosomal recessive, 2",
            "description": ""
        },
        {
            "id": "MIM:605726",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605726",
            "name": "Neuronopathy, distal hereditary motor, autosomal recessive 2",
            "description": "Neuronopathy, distal hereditary motor, autosomal recessive 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111065"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111065",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111065",
            "categories": []
        },
        {
            "id": "MONDO:0011585",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011585",
            "categories": []
        },
        {
            "id": "MIM:605726",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605726",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZWG9-1",
            "uniprot_ac": "Q7ZWG9",
            "uniprot_id": "SGMR1_DANRE",
            "refseq_ac": "NP_957271",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sigma non-opioid intracellular receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1R",
                    "type": "synonym"
                },
                {
                    "name": "opioid receptor, sigma 1",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma non-opioid intracellular receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma1R",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sigmar1",
                    "type": "recommended"
                },
                {
                    "name": "oprs1",
                    "type": "synonym"
                },
                {
                    "name": "sigmar1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56378",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZWG9-1",
            "evidence": [
                {
                    "id": "0111065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55242-1",
            "uniprot_ac": "O55242",
            "uniprot_id": "SGMR1_MOUSE",
            "refseq_ac": "NP_001273467",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sigma non-opioid intracellular receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1R",
                    "type": "synonym"
                },
                {
                    "name": "opioid receptor, sigma 1",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1 receptor variant SR-1D",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma non-opioid intracellular receptor 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sigma1-receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sigmar1",
                    "type": "recommended"
                },
                {
                    "name": "Oprs1",
                    "type": "synonym"
                },
                {
                    "name": "Sig1R",
                    "type": "synonym"
                },
                {
                    "name": "Sigmar1",
                    "type": "synonym"
                },
                {
                    "name": "sigma1R",
                    "type": "synonym"
                }
            ],
            "record_id": "O55242-1",
            "evidence": [
                {
                    "id": "0111065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99720-1",
            "uniprot_ac": "Q99720",
            "uniprot_id": "SGMR1_HUMAN",
            "refseq_ac": "NP_001269134",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sigma non-opioid intracellular receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Aging-associated gene 8 protein",
                    "type": "synonym"
                },
                {
                    "name": "SIG-1R",
                    "type": "synonym"
                },
                {
                    "name": "SR-BP",
                    "type": "synonym"
                },
                {
                    "name": "SR31747 binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SR31747-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1R",
                    "type": "synonym"
                },
                {
                    "name": "aging-associated gene 8 protein",
                    "type": "synonym"
                },
                {
                    "name": "hSigmaR1",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma non-opioid intracellular receptor 1 isoform 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIGMAR1",
                    "type": "recommended"
                },
                {
                    "name": "AAG8",
                    "type": "synonym"
                },
                {
                    "name": "ALS16",
                    "type": "synonym"
                },
                {
                    "name": "DSMA2",
                    "type": "synonym"
                },
                {
                    "name": "HMNR2",
                    "type": "synonym"
                },
                {
                    "name": "OPRS1",
                    "type": "synonym"
                },
                {
                    "name": "SIG-1R",
                    "type": "synonym"
                },
                {
                    "name": "SIGMAR1",
                    "type": "synonym"
                },
                {
                    "name": "SR-BP1",
                    "type": "synonym"
                },
                {
                    "name": "SR-BP",
                    "type": "synonym"
                },
                {
                    "name": "SRBP",
                    "type": "synonym"
                },
                {
                    "name": "hSigmaR1",
                    "type": "synonym"
                },
                {
                    "name": "sigma1R",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99720-1",
            "evidence": [
                {
                    "id": "605726",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605726"
                },
                {
                    "id": "0111065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32352-1",
            "uniprot_ac": "P32352",
            "uniprot_id": "ERG2_YEAST",
            "refseq_ac": "NP_013929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-8 sterol isomerase ERG2",
                    "type": "recommended"
                },
                {
                    "name": "5.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "C-8 sterol isomerase ERG2",
                    "type": "synonym"
                },
                {
                    "name": "Delta-8--delta-7 sterol isomerase ERG2",
                    "type": "synonym"
                },
                {
                    "name": "Ergosterol biosynthetic protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERG2",
                    "type": "recommended"
                },
                {
                    "name": "END11",
                    "type": "synonym"
                },
                {
                    "name": "ERG2",
                    "type": "synonym"
                },
                {
                    "name": "YM8325.03",
                    "type": "synonym"
                }
            ],
            "record_id": "P32352-1",
            "evidence": [
                {
                    "id": "0111065",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111065"
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        },
        {
            "uniprot_canonical_ac": "Q9R0C9-1",
            "uniprot_ac": "Q9R0C9",
            "uniprot_id": "SGMR1_RAT",
            "refseq_ac": "NP_112258",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sigma non-opioid intracellular receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1R",
                    "type": "synonym"
                },
                {
                    "name": "opioid receptor, sigma 1",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma non-opioid intracellular receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma1R",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sigmar1",
                    "type": "recommended"
                },
                {
                    "name": "Oprs1",
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                },
                {
                    "name": "Sigmar1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0C9-1",
            "evidence": [
                {
                    "id": "0111065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111065"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111065"
}