{
  "id": 4423,
  "label": "motor peripheral neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002316",
  "properties": {
    "xrefs": [
      "DOID:2477",
      "ICD9:356.9",
      "MEDGEN:82885",
      "NCIT:C3500",
      "SCTID:95663000",
      "UMLS:C0271683"
    ],
    "synonyms": [
      "peripheral motor neuropathy",
      "HSMN",
      "HSMN - hereditary sensory and motor neuropathy",
      "hereditary motor and sensory neuropathy",
      "neuropathic muscular atrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Inflammation or degeneration of the peripheral motor nerves."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 6950,
      "label": "peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5512,
        18957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:870",
          "EFO:0003100",
          "MEDGEN:18386",
          "MedDRA:10034606",
          "NCIT:C119734",
          "NCIT:C4731",
          "SCTID:302226006",
          "SCTID:386033004",
          "UMLS:C0031117"
        ],
        "synonyms": [
          "neuropathy",
          "peripheral nerve disorder",
          "peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005244"
    }
  ],
  "children": [
    {
      "id": 5854,
      "label": "motor nerve neuritis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4257,
        4423
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:683",
          "GARD:0023772",
          "MEDGEN:68610",
          "UMLS:C0235025"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Inflammation of the peripheral motor nerves."
      },
      "child_count": 2,
      "reference_id": "MONDO:0004004"
    },
    {
      "id": 6098,
      "label": "glossopharyngeal motor neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        4690
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7558",
          "GARD:0023908",
          "MEDGEN:155662",
          "NCIT:C27212",
          "UMLS:C0751942"
        ],
        "synonyms": [
          "glossopharyngeal nerve motor peripheral neuropathy",
          "motor peripheral neuropathy of glossopharyngeal nerve"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0004279"
    },
    {
      "id": 12011,
      "label": "Charcot-Marie-Tooth disease type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        18959,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080067",
          "GARD:0009208",
          "MEDGEN:1648461",
          "OMIM:600361",
          "Orphanet:64751",
          "SCTID:76043009",
          "UMLS:C4721916"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease-pyramidal features syndrome",
          "HMSN 5",
          "hereditary motor and sensory neuropathy type 5",
          "CMT with pyramidal features",
          "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant",
          "Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant",
          "HMSN5",
          "hereditary motor and sensory neuropathy 5",
          "hereditary motor and sensory neuropathy V",
          "peroneal muscular atrophy with pyramidal features, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010877"
    },
    {
      "id": 12128,
      "label": "neuropathy, hereditary motor and sensory, type 6A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        16413,
        19358
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018091",
          "OMIM:601152"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease, type 6",
          "neuropathy, hereditary motor and sensory, type 6",
          "peripheral neuropathy and optic atrophy",
          "Charcot-Marie-Tooth disease, type 6A",
          "HMSN6A",
          "MFN2 hereditary motor and sensory neuropathy type 6",
          "hereditary motor and sensory neuropathy VIA",
          "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2",
          "neuropathy, hereditary motor and sensory, type VIA",
          "HMSN 6A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011002"
    },
    {
      "id": 12571,
      "label": "hereditary motor and sensory neuropathy, Okinawa type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4423,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010131",
          "MEDGEN:346886",
          "MESH:C535717",
          "OMIM:604484",
          "Orphanet:90117",
          "UMLS:C1858338"
        ],
        "synonyms": [
          "HMSNP",
          "hereditary motor and sensory neuropathy, proximal type",
          "HMSNO",
          "hereditary motor and sensory neuropathy, proximal type, formerly",
          "neuropathy, hereditary motor and sensory, Okinawa type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic."
      },
      "child_count": 2,
      "reference_id": "MONDO:0011468"
    },
    {
      "id": 12632,
      "label": "Charcot-Marie-Tooth disease type 4G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        17928,
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110196",
          "GARD:0010132",
          "MEDGEN:343122",
          "MESH:C535813",
          "OMIM:605285",
          "Orphanet:99953",
          "SCTID:715799004",
          "UMLS:C1854449",
          "icd11.foundation:995395080"
        ],
        "synonyms": [
          "CMT4G",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1",
          "HK1 Charcot-Marie-Tooth disease type 4",
          "HMSNR",
          "hereditary motor and sensory neuropathy, Russe type",
          "Charcot-Marie-Tooth disease, autosomal recessive, type 4G",
          "Charcot-Marie-Tooth disease, type 4G",
          "Charcot-Marie-Tooth neuropathy, type 4G",
          "neuropathy, hereditary motor and sensory, Russe type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011534"
    },
    {
      "id": 12728,
      "label": "Charcot-Marie-Tooth disease axonal type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110182",
          "GARD:0001250",
          "MEDGEN:342947",
          "OMIM:606071",
          "Orphanet:99937",
          "SCTID:717010007",
          "UMLS:C1853710"
        ],
        "synonyms": [
          "CMT2C",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4",
          "HMSN2C",
          "TRPV4 Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2C",
          "CMT 2C",
          "Charcot Marie Tooth disease type 2C",
          "Charcot-Marie-Tooth disease type 2C",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C",
          "Charcot-Marie-Tooth disease, axonal, type 2C",
          "Charcot-Marie-Tooth neuropathy, type 2C",
          "HMSN 2 C",
          "HMSN 2C",
          "hereditary motor and sensory neuropathy 2 C",
          "hereditary motor and sensory neuropathy, type 2C",
          "hereditary motor and sensory neuropathy, type IIC"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011633"
    },
    {
      "id": 15666,
      "label": "neuropathy, hereditary motor and sensory, type 6B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        19358
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018092",
          "MEDGEN:895482",
          "OMIM:616505",
          "UMLS:C4225302"
        ],
        "synonyms": [
          "CMT6B",
          "Charcot-Marie-Tooth disease, type 6B",
          "HMSN 6B",
          "HMSN6B",
          "SLC25A46 hereditary motor and sensory neuropathy type 6",
          "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46",
          "neuropathy, hereditary motor and sensory, type 6B",
          "neuropathy, hereditary motor and sensory, type VIB"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014671"
    },
    {
      "id": 25397,
      "label": "peripheral motor neuropathy, childhood-onset, biotin-responsive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026682",
          "MEDGEN:1809728",
          "OMIM:619903",
          "UMLS:C5676997"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859255"
    }
  ],
  "roots": [
    {
      "id": 6950,
      "label": "peripheral neuropathy"
    }
  ]
}