{
    "disease_id": "DOID:0111197",
    "recommended_name": {
        "id": "DOID:0111197",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111197",
        "name": "autosomal recessive distal hereditary motor neuronopathy",
        "description": "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance."
    },
    "synonyms": [
        {
            "id": "DOID:0111197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111197",
            "name": "autosomal recessive distal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "autosomal recessive distal spinal muscular atrophy 1",
            "description": "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features."
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "DSMA1",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "IGHMBP2 spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "SIANRF",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "SMARD1",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "Spinal Muscular Atrophy with Respiratory Distress",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "autosomal recessive distal spinal muscular atrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "autosomal recessive distal spinal muscular atrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "autosomal recessive spinal muscular atrophy with respiratory distress",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "dHMN6",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "dSMA1",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "diaphragmatic spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "distal hereditary motor neuropathy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "distal-HMN type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "severe infantile axonal neuropathy with respiratory failure type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "spinal muscular atrophy caused by mutation in IGHMBP2",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "spinal muscular atrophy with respiratory distress type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "spinal muscular atrophy, distal, autosomal recessive, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "HMN VI",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "neuronopathy, distal hereditary motor, type VI",
            "description": ""
        },
        {
            "id": "MONDO:0011436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "name": "spinal muscular atrophy, distal, autosomal recessive, 1",
            "description": ""
        },
        {
            "id": "MIM:604320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604320",
            "name": "Neuronopathy, distal hereditary motor, autosomal recessive 1",
            "description": "Neuronopathy, distal hereditary motor, autosomal recessive 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0081425",
            "label": "autosomal recessive distal hereditary motor neuronopathy 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081426",
            "label": "autosomal recessive distal hereditary motor neuronopathy 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081427",
            "label": "autosomal recessive distal hereditary motor neuronopathy 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081428",
            "label": "autosomal recessive distal hereditary motor neuronopathy 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081429",
            "label": "autosomal recessive distal hereditary motor neuronopathy 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111064",
            "label": "autosomal recessive distal hereditary motor neuronopathy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111065",
            "label": "autosomal recessive distal hereditary motor neuronopathy 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111213",
            "label": "autosomal recessive distal hereditary motor neuronopathy 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111214",
            "label": "autosomal recessive distal hereditary motor neuronopathy 5",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111197",
        "DOID:0081429",
        "DOID:0111214",
        "DOID:0111213",
        "DOID:0081428",
        "DOID:0081425",
        "DOID:0081427",
        "DOID:0081426",
        "DOID:0111065",
        "DOID:0111064"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111197",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111197",
            "categories": []
        },
        {
            "id": "MONDO:0011436",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011436",
            "categories": []
        },
        {
            "id": "MIM:604320",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604320",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P38935-1",
            "uniprot_ac": "P38935",
            "uniprot_id": "SMBP2_HUMAN",
            "refseq_ac": "NP_002171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein SMUBP-2",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "5.6.2.5",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "DNA and RNA 5'-3' helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein SMUBP-2",
                    "type": "synonym"
                },
                {
                    "name": "GF-1",
                    "type": "synonym"
                },
                {
                    "name": "Glial factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin mu-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cardiac transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "glial factor 1",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin mu binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, AN1-type domain 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IGHMBP2",
                    "type": "recommended"
                },
                {
                    "name": "CATF1",
                    "type": "synonym"
                },
                {
                    "name": "CMT2S",
                    "type": "synonym"
                },
                {
                    "name": "HCSA",
                    "type": "synonym"
                },
                {
                    "name": "HMN6",
                    "type": "synonym"
                },
                {
                    "name": "HMNR1",
                    "type": "synonym"
                },
                {
                    "name": "IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "SMARD1",
                    "type": "synonym"
                },
                {
                    "name": "SMBP2",
                    "type": "synonym"
                },
                {
                    "name": "SMUBP2",
                    "type": "synonym"
                },
                {
                    "name": "ZFAND7",
                    "type": "synonym"
                }
            ],
            "record_id": "P38935-1",
            "evidence": [
                {
                    "id": "604320",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604320"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111197"
}