{
  "id": 21302,
  "label": "hereditary motor neuron disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024257",
  "properties": {
    "xrefs": [
      "GARD:0019478",
      "MEDGEN:78728",
      "Orphanet:98505",
      "SCTID:49793008",
      "UMLS:C0270763"
    ],
    "synonyms": [
      "genetic anterior horn cell disease",
      "genetic motor neuron disease",
      "hereditary motor neuron disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 19749,
      "label": "motor neuron disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        18957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:231",
          "EFO:0003782",
          "GARD:0019477",
          "ICD10CM:G12.2",
          "ICD9:335.2",
          "ICD9:335.8",
          "ICD9:335.9",
          "MEDGEN:38785",
          "MESH:D016472",
          "MedDRA:10028003",
          "Orphanet:98503",
          "SCTID:37340000",
          "UMLS:C0085084",
          "icd11.foundation:661720689"
        ],
        "synonyms": [
          "anterior horn cell disease",
          "disease of motor neuron",
          "disease or disorder of motor neuron",
          "disorder of motor neuron",
          "motor neuron disease",
          "motor neuron disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological disease involving the motor neuron."
      },
      "child_count": 8,
      "reference_id": "MONDO:0020128"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    }
  ],
  "children": [
    {
      "id": 2768,
      "label": "prenatal-onset spinal muscular atrophy with congenital bone fractures",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16094,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017882",
          "MEDGEN:1798941",
          "OMIMPS:616866",
          "Orphanet:486811",
          "UMLS:C5567518"
        ],
        "synonyms": [
          "SMABF",
          "spinal muscular atrophy with congenital bone fractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0000209"
    },
    {
      "id": 3724,
      "label": "spinal muscular atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5143,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12377",
          "EFO:0008525",
          "GARD:0007674",
          "ICD9:335.1",
          "ICD9:335.10",
          "ICD9:335.19",
          "MEDGEN:7755",
          "MESH:D009134",
          "NANDO:1200003",
          "NANDO:2100231",
          "NANDO:2200853",
          "NCIT:C85075",
          "OMIMPS:253300",
          "SCTID:5262007",
          "UMLS:C0026847",
          "icd11.foundation:71074342"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 38,
      "reference_id": "MONDO:0001516"
    },
    {
      "id": 6868,
      "label": "familial amyotrophic lateral sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6718,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0001356",
          "GARD:0024155",
          "MEDGEN:1642547",
          "OMIMPS:105400",
          "UMLS:C4551993"
        ],
        "synonyms": [
          "hereditary amyotrophic lateral sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005144"
    },
    {
      "id": 9704,
      "label": "neurogenic scapuloperoneal syndrome, Kaeser type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16774,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111551",
          "GARD:0010312",
          "MEDGEN:356670",
          "MESH:C566695",
          "OMIM:181400",
          "Orphanet:85146",
          "UMLS:C1867005"
        ],
        "synonyms": [
          "Kaeser syndrome",
          "stark-Kaeser syndrome",
          "SCPNK",
          "scapuloperoneal syndrome, neurogenic type, of Kaeser",
          "scapuloperoneal syndrome, neurogenic, Kaeser type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008407"
    },
    {
      "id": 10156,
      "label": "riboflavin transporter deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050694",
          "GARD:0009993",
          "MEDGEN:1634394",
          "MESH:C537111",
          "NORD:1960",
          "OMIMPS:211530",
          "Orphanet:97229",
          "SCTID:699866005",
          "UMLS:C4551777"
        ],
        "synonyms": [
          "Brown-Vialetto-van Laere syndrome",
          "Fazio-Londe syndrome",
          "disorder of riboflavin transmembrane transporter activity",
          "riboflavin transmembrane transporter activity disease",
          "sensorineural hearing loss-pontobulbar palsy syndrome",
          "Brown-Vialetto-Van Laere syndrome 1",
          "BVVLS",
          "BVVLS1",
          "pontobulbar palsy and neurosensory deafness",
          "progressive bulbar palsy with sensorineural deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008891"
    },
    {
      "id": 12003,
      "label": "motor neuron disease with dementia and ophthalmoplegia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024759",
          "MEDGEN:324986",
          "MESH:C563954",
          "OMIM:600333",
          "UMLS:C1838253"
        ],
        "synonyms": [
          "motor neuron disease with dementia and ophthalmoplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010869"
    },
    {
      "id": 18300,
      "label": "lateral sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:230",
          "GARD:0010684",
          "ICD10CM:G12.23",
          "ICD9:335.24",
          "MEDGEN:57591",
          "MedDRA:10036704",
          "NANDO:1200008",
          "NCIT:C129933",
          "Orphanet:35689",
          "SCTID:81211007",
          "UMLS:C0154682",
          "icd11.foundation:1686688462"
        ],
        "synonyms": [
          "PLS",
          "adult-onset PLS",
          "adult-onset primary lateral sclerosis",
          "primary lateral sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018155"
    },
    {
      "id": 18822,
      "label": "distal hereditary motor neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012683",
          "MEDGEN:98274",
          "Orphanet:53739",
          "SCTID:230247001",
          "UMLS:C0393541"
        ],
        "synonyms": [
          "dHMN",
          "dSMA",
          "distal spinal muscular atrophy",
          "neuronopathy, distal hereditary motor"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018894"
    },
    {
      "id": 23968,
      "label": "ALS2-related motor neuron disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026088"
        ],
        "synonyms": [
          "Alsin-related motor neuron disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100227"
    }
  ],
  "roots": [
    {
      "id": 19749,
      "label": "motor neuron disorder"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease"
    }
  ]
}