{
    "disease_id": "DOID:0111064",
    "recommended_name": {
        "id": "DOID:0111064",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111064",
        "name": "autosomal recessive distal hereditary motor neuronopathy 1",
        "description": "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "spinal muscular atrophy with respiratory distress type 1",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "DSMA1",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "SIANRF",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "SMARD1",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "dHMN6",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "diaphragmatic spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "distal hereditary motor neuropathy type 6",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "distal-HMN type 6",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "autosomal recessive distal spinal muscular atrophy 1",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "severe infantile axonal neuropathy with respiratory failure type 1",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "autosomal recessive spinal muscular atrophy with respiratory distress",
            "description": ""
        },
        {
            "id": "DOID:0111064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "name": "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 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_list": [
        "DOID:0111064"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111064",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111064",
            "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": "M9MM98-1",
            "uniprot_ac": "M9MM98",
            "uniprot_id": "M9MM98_DANRE",
            "refseq_ac": "NP_001038365",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein SMUBP-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein SMUBP-2",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin mu binding protein 2, like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ighmbp2",
                    "type": "recommended"
                },
                {
                    "name": "ighmbp2l",
                    "type": "synonym"
                },
                {
                    "name": "ighmbp2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-238n5.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110400",
                    "type": "synonym"
                }
            ],
            "record_id": "M9MM98-1",
            "evidence": [
                {
                    "id": "0111064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40694-1",
            "uniprot_ac": "P40694",
            "uniprot_id": "SMBP2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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": "CATF1",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA and RNA 5'-3' helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin mu-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ighmbp2",
                    "type": "recommended"
                },
                {
                    "name": "Smbp-2",
                    "type": "synonym"
                },
                {
                    "name": "Smbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P40694-1",
            "evidence": [
                {
                    "id": "0111064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111064"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0111064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34243-1",
            "uniprot_ac": "P34243",
            "uniprot_id": "HCS1_YEAST",
            "refseq_ac": "NP_012908",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase alpha-associated DNA helicase A",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent 5'-3' DNA helicase HCS1",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HCS1",
                    "type": "recommended"
                },
                {
                    "name": "DIP1",
                    "type": "synonym"
                },
                {
                    "name": "HCS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P34243-1",
            "evidence": [
                {
                    "id": "0111064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQN5-1",
            "uniprot_ac": "Q9EQN5",
            "uniprot_id": "SMBP2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "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": "AEP",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase IGHMBP2",
                    "type": "synonym"
                },
                {
                    "name": "Antifreeze enhancer-binding protein ortholog",
                    "type": "synonym"
                },
                {
                    "name": "DNA and RNA 5'-3' helicase IGHMBP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ighmbp2",
                    "type": "recommended"
                },
                {
                    "name": "Smbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQN5-1",
            "evidence": [
                {
                    "id": "0111064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111064"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111064"
}