{
  "id": 16222,
  "label": "neuronopathy, distal hereditary motor, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015363",
  "properties": {
    "xrefs": [
      "DOID:0111197",
      "GARD:0019927",
      "MEDGEN:1779821",
      "OMIMPS:604320",
      "Orphanet:140468",
      "UMLS:C5548369"
    ],
    "synonyms": [
      "autosomal recessive dHMN",
      "autosomal recessive dSMA",
      "autosomal recessive distal hereditary motor neuropathy",
      "autosomal recessive distal spinal muscular atrophy",
      "distal hereditary motor neuropathy, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive form of distal hereditary motor neuropathy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 12541,
      "label": "autosomal recessive distal spinal muscular atrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3724,
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111064",
          "GARD:0008592",
          "ICD9:335.19",
          "MEDGEN:388083",
          "MESH:C536880",
          "NORD:1994",
          "OMIM:604320",
          "Orphanet:98920",
          "SCTID:711483003",
          "UMLS:C1858517"
        ],
        "synonyms": [
          "DSMA1",
          "IGHMBP2 spinal muscular atrophy",
          "SIANRF",
          "SMARD1",
          "Spinal Muscular Atrophy with Respiratory Distress",
          "autosomal recessive distal spinal muscular atrophy 1",
          "autosomal recessive distal spinal muscular atrophy type 1",
          "autosomal recessive spinal muscular atrophy with respiratory distress",
          "dHMN6",
          "dSMA1",
          "diaphragmatic spinal muscular atrophy",
          "distal hereditary motor neuropathy type 6",
          "distal-HMN type 6",
          "severe infantile axonal neuropathy with respiratory failure type 1",
          "spinal muscular atrophy caused by mutation in IGHMBP2",
          "spinal muscular atrophy with respiratory distress type 1",
          "spinal muscular atrophy, distal, autosomal recessive, type 1",
          "HMN 6",
          "HMN VI",
          "Hmn6",
          "neuronopathy, Severe infantile axonal, with respiratory failure",
          "neuronopathy, distal hereditary motor, type 6",
          "neuronopathy, distal hereditary motor, type VI",
          "severe infantile axonal neuropathy with respiratory failure",
          "spinal muscular atrophy with respiratory distress 1",
          "spinal muscular atrophy, diaphragmatic",
          "spinal muscular atrophy, distal, autosomal recessive, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011436"
    },
    {
      "id": 12681,
      "label": "autosomal recessive distal spinal muscular atrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3724,
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111065",
          "GARD:0010133",
          "MEDGEN:344189",
          "MESH:C535715",
          "OMIM:605726",
          "Orphanet:139552",
          "SCTID:763533003",
          "UMLS:C1854023"
        ],
        "synonyms": [
          "DSMA2",
          "autosomal recessive distal spinal muscular atrophy type 2",
          "dHMNJ",
          "spinal muscular atrophy, distal, autosomal recessive, type 2",
          "HMNJ",
          "MNDJ",
          "distal hereditary motor neuropathy, Jerash type",
          "hereditary motor neuropathy, Jerash type",
          "motor neuropathy, distal, Jerash type",
          "neuronopathy, distal hereditary motor, Jerash type",
          "neuropathy, distal hereditary motor, Jerash type",
          "spinal muscular atrophy, Jerash type",
          "spinal muscular atrophy, distal, autosomal recessive, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011585"
    },
    {
      "id": 12855,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3724,
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111211",
          "GARD:0016956",
          "MEDGEN:337659",
          "MESH:C564626",
          "OMIM:607088",
          "Orphanet:139547",
          "UMLS:C1846823"
        ],
        "synonyms": [
          "autosomal recessive distal spinal muscular atrophy type 3",
          "dHMN3 and dHMN4",
          "dSMA3",
          "distal hereditary motor neuropathy type 3 and type 4",
          "distal spinal muscular atrophy type 3",
          "spinal muscular atrophy, chronic distal, autosomal recessive",
          "HMN 3",
          "HMN 4",
          "dHMN3",
          "dHMN4",
          "neuronopathy, distal hereditary motor, type 3",
          "neuronopathy, distal hereditary motor, type 4",
          "neuropathy, distal hereditary motor, type 4",
          "spinal muscular atrophy, distal, autosomal recessive, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011771"
    },
    {
      "id": 13655,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3724,
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111213",
          "GARD:0017101",
          "MEDGEN:369682",
          "MESH:C567023",
          "OMIM:611067",
          "Orphanet:206580",
          "UMLS:C1970211"
        ],
        "synonyms": [
          "DSMA4",
          "autosomal recessive distal spinal muscular atrophy type 4",
          "autosomal recessive lower motor neuron disease with childhood onset",
          "dSMA4",
          "distal spinal muscular atrophy type 4",
          "neuronopathy, distal hereditary motor, autosomal recessive 4",
          "spinal muscular atrophy, distal, autosomal recessive, type 4",
          "spinal muscular atrophy, distal, autosomal recessive, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012608"
    },
    {
      "id": 14958,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3724,
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111214",
          "GARD:0017421",
          "MEDGEN:1667915",
          "OMIM:614881",
          "Orphanet:314485",
          "UMLS:C4749918"
        ],
        "synonyms": [
          "DSMA5",
          "Young adult-onset dHMN",
          "autosomal recessive distal spinal muscular atrophy type 5",
          "dSMA5",
          "spinal muscular atrophy, distal, autosomal recessive, type 5",
          "young adult-onset distal hereditary motor neuropathy",
          "spinal muscular atrophy, distal, autosomal recessive, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013947"
    },
    {
      "id": 21831,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081427",
          "GARD:0025518",
          "MEDGEN:1714781",
          "OMIM:618912",
          "Orphanet:700508",
          "UMLS:C5394466"
        ],
        "synonyms": [
          "SORDD",
          "sorbitol dehydrogenase deficiency",
          "sorbitol dehydrogenase deficiency with peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030055"
    },
    {
      "id": 22164,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081426",
          "GARD:0018444",
          "MEDGEN:1786836",
          "OMIM:619216",
          "UMLS:C5543119"
        ],
        "synonyms": [
          "HMNMYO",
          "neuropathy, hereditary motor, with myopathic features"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030977"
    },
    {
      "id": 23381,
      "label": "early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222,
        18404,
        19713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017914",
          "MEDGEN:1798874",
          "Orphanet:496756",
          "UMLS:C5567451"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044651"
    },
    {
      "id": 25417,
      "label": "spinal muscular atrophy, distal, autosomal recessive, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081425",
          "GARD:0026685",
          "MEDGEN:1823974",
          "OMIM:620011",
          "UMLS:C5774201"
        ],
        "synonyms": [
          "DSMA6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859279"
    },
    {
      "id": 25764,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081428",
          "GARD:0026888",
          "MEDGEN:1850177",
          "OMIM:620402",
          "UMLS:C5882672"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957874"
    },
    {
      "id": 25766,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081429",
          "GARD:0026890",
          "MEDGEN:1846713",
          "OMIM:620542",
          "UMLS:C5882703"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957876"
    },
    {
      "id": 25836,
      "label": "COQ7-related distal hereditary motor neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222,
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026944",
          "MEDGEN:1863922",
          "Orphanet:658778",
          "UMLS:C5925143"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958129"
    },
    {
      "id": 26073,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027204",
          "MEDGEN:1856205",
          "OMIM:620854",
          "UMLS:C5935630"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971150"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18822,
      "label": "distal hereditary motor neuropathy"
    }
  ]
}