{
  "id": 16221,
  "label": "neuronopathy, distal hereditary motor, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015362",
  "properties": {
    "xrefs": [
      "DOID:0111198",
      "GARD:0019926",
      "MEDGEN:1787720",
      "OMIMPS:182960",
      "Orphanet:140465",
      "UMLS:C5548212"
    ],
    "synonyms": [
      "autosomal dominant dHMN",
      "autosomal dominant distal hereditary motor neuropathy",
      "autosomal dominant distal spinal muscular atrophy",
      "distal hereditary motor neuropathy, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant form of distal hereditary motor neuropathy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 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"
    }
  ],
  "children": [
    {
      "id": 9743,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16221,
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111200",
          "GARD:0016953",
          "MEDGEN:356618",
          "MESH:C566675",
          "NCIT:C132826",
          "OMIM:182960",
          "Orphanet:139518",
          "UMLS:C1866784"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease, spinal, I",
          "DHMN1",
          "autosomal dominant distal juvenile spinal muscular atrophy type 1",
          "dHMN1",
          "distal hereditary motor neuronopathy type I",
          "neuronopathy, distal hereditary motor, type 1",
          "Charcot-Marie-Tooth disease, spinal, 1",
          "HMN 1",
          "HMN1",
          "neuronopathy, distal hereditary motor, type I",
          "neuropathy, distal hereditary motor, type 1",
          "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008451"
    },
    {
      "id": 11236,
      "label": "hereditary spastic paraplegia 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056,
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110770",
          "GARD:0004219",
          "MEDGEN:419034",
          "MESH:C536644",
          "OMIM:270685",
          "Orphanet:100998",
          "UMLS:C2931276"
        ],
        "synonyms": [
          "BSCL2 hereditary spastic paraplegia",
          "SPG17",
          "Silver spastic paraplegia syndrome",
          "Silver syndrome",
          "autosomal dominant spastic paraplegia type 17",
          "hereditary spastic paraplegia caused by mutation in BSCL2",
          "hereditary spastic paraplegia type 17",
          "spastic paraplegia with amyotrophy of hands and feet",
          "spastic paraplegia-amyotrophy of hands and feet",
          "spastic paraplegia 17",
          "spastic paraplegia 17, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010043"
    },
    {
      "id": 11975,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111215",
          "GARD:0001474",
          "MEDGEN:373984",
          "MESH:C563981",
          "OMIM:600175",
          "Orphanet:1216",
          "SCTID:763067000",
          "UMLS:C1838492"
        ],
        "synonyms": [
          "autosomal dominant benign distal spinal muscular atrophy",
          "autosomal dominant congenital benign spinal muscular atrophy",
          "congenital benign spinal muscular atrophy with contractures",
          "congenital nonprogressive spinal muscular atrophy",
          "HMN8",
          "neuronopathy, distal hereditary motor, type 8",
          "neuronopathy, distal hereditary motor, type VIII",
          "neuropathy, distal hereditary motor, type 8",
          "spinal muscular atrophy, congenital benign, with contractures",
          "spinal muscular atrophy, distal, congenital nonprogressive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010839"
    },
    {
      "id": 16214,
      "label": "distal hereditary motor neuropathy type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111206",
          "GARD:0016954",
          "MEDGEN:777992",
          "MESH:C580044",
          "Orphanet:139525",
          "UMLS:C3711384",
          "icd11.foundation:152961055"
        ],
        "synonyms": [
          "dHMN2",
          "dSMA2",
          "distal spinal muscular atrophy type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015352"
    },
    {
      "id": 16217,
      "label": "distal hereditary motor neuropathy type 7",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111199",
          "GARD:0016960",
          "MEDGEN:1662655",
          "Orphanet:139589",
          "UMLS:C4749653",
          "icd11.foundation:80361835"
        ],
        "synonyms": [
          "dHMN7",
          "distal spinal muscular atrophy with vocal cord paralysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015355"
    },
    {
      "id": 23704,
      "label": "neuronopathy, distal hereditary motor, type 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111212",
          "GARD:0026000",
          "MEDGEN:1617571",
          "OMIM:617721",
          "UMLS:C4540265"
        ],
        "synonyms": [
          "HMN9",
          "neuronopathy, distal hereditary motor, type IX",
          "neuropathy, distal hereditary motor, type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0060585"
    },
    {
      "id": 24078,
      "label": "neuronopathy, distal hereditary motor, type 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111203",
          "GARD:0016955",
          "MEDGEN:318838",
          "MESH:C563443",
          "Orphanet:139536",
          "UMLS:C1833308"
        ],
        "synonyms": [
          "dHMN5",
          "distal HMN V",
          "distal hereditary motor neuropathy type V",
          "distal spinal muscular atrophy type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0100350"
    },
    {
      "id": 25434,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081399",
          "GARD:0026687",
          "MEDGEN:1824007",
          "OMIM:620080",
          "UMLS:C5774234"
        ],
        "synonyms": [
          "neuronopathy, distal hereditary motor, type X"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859300"
    },
    {
      "id": 25765,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081400",
          "GARD:0026889",
          "MEDGEN:1849676",
          "OMIM:620528",
          "UMLS:C5882697"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957875"
    },
    {
      "id": 26189,
      "label": "myopathy, myofibrillar, 13, with rimmed vacuoles",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16221,
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051045",
          "GARD:0027428",
          "MEDGEN:1799560",
          "OMIM:621078",
          "Orphanet:476093",
          "UMLS:C5568137"
        ],
        "synonyms": [
          "HSPB8-associated autosomal dominant rimmed vacuolar myopathy",
          "HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",
          "MFM13",
          "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",
          "limb-girdle rimmed vacuolar myopathy",
          "rimmed vacuoles myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0976133"
    },
    {
      "id": 26195,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051042",
          "GARD:0027432",
          "MEDGEN:1875158",
          "OMIM:621094",
          "UMLS:C5975628"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976226"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 3724,
      "label": "spinal muscular atrophy"
    },
    {
      "id": 18822,
      "label": "distal hereditary motor neuropathy"
    }
  ]
}