{
  "id": 16220,
  "label": "hereditary motor and sensory neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015358",
  "properties": {
    "xrefs": [
      "GARD:0012685",
      "ICD10CM:G60.0",
      "MEDGEN:45066",
      "MESH:D015417",
      "NANDO:2200855",
      "Orphanet:140450",
      "SCTID:398100001",
      "UMLS:C0027888",
      "icd11.foundation:1538134578"
    ],
    "synonyms": [
      "HMSN"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [
    {
      "id": 10077,
      "label": "polyneuropathy-hand defect syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16220,
        16223
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002589",
          "MEDGEN:349240",
          "MESH:C535624",
          "OMIM:207740",
          "Orphanet:2926",
          "UMLS:C1859752"
        ],
        "synonyms": [
          "Hamanishi Ueba Tsuji syndrome",
          "Hamanishi-Ueba-Tsuji syndrome",
          "aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy",
          "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy",
          "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathy",
          "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy",
          "digital extensor muscle aplasia-polyneuropathy",
          "polyneuropathy, hand defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008809"
    },
    {
      "id": 12319,
      "label": "hereditary thermosensitive neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016731",
          "MEDGEN:355568",
          "MESH:C566575",
          "OMIM:602107",
          "Orphanet:84093",
          "SCTID:715645004",
          "UMLS:C1865856",
          "icd11.foundation:1124144144"
        ],
        "synonyms": [
          "neuropathy, hereditary thermosensitive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011197"
    },
    {
      "id": 13069,
      "label": "autosomal dominant slowed nerve conduction velocity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016962",
          "MEDGEN:330829",
          "MESH:C564269",
          "OMIM:608236",
          "Orphanet:140481",
          "SCTID:764854006",
          "UMLS:C1842357"
        ],
        "synonyms": [
          "autosomal dominant slowed nerve conduction velocity",
          "slowed nerve conduction velocity, AD",
          "SNCV",
          "slowed nerve conduction velocity, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011998"
    },
    {
      "id": 17575,
      "label": "hereditary sensorimotor neuropathy with hyperelastic skin",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011010",
          "MEDGEN:1678654",
          "Orphanet:280598",
          "UMLS:C5190690",
          "icd11.foundation:691133799"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017237"
    },
    {
      "id": 18737,
      "label": "demyelinating hereditary motor and sensory neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16220,
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021952",
          "MEDGEN:1843348",
          "Orphanet:476116",
          "UMLS:C5680106"
        ],
        "synonyms": [
          "demyelinating HMSN",
          "demyelinating hereditary motor and sensory neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018776"
    },
    {
      "id": 19356,
      "label": "severe early-onset axonal neuropathy due to MFN2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019123",
          "MEDGEN:1641956",
          "Orphanet:90118",
          "SCTID:766977007",
          "UMLS:C4707897"
        ],
        "synonyms": [
          "AR-CMT2, Ouvrier type",
          "SEOAN due to MFN2 deficiency",
          "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019549"
    },
    {
      "id": 19357,
      "label": "hereditary motor and sensory neuropathy with acrodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019124",
          "MEDGEN:1669448",
          "Orphanet:90119",
          "UMLS:C4749729"
        ],
        "synonyms": [
          "AR-CMT2 with acrodystrophy",
          "HMSN with acrodystrophy",
          "autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy",
          "autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019550"
    },
    {
      "id": 19358,
      "label": "hereditary motor and sensory neuropathy type 6",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080068",
          "GARD:0016787",
          "MEDGEN:140747",
          "Orphanet:90120",
          "UMLS:C0393807",
          "icd11.foundation:467894833"
        ],
        "synonyms": [
          "CMT6",
          "Charcot-Marie-Tooth disease type 6",
          "hereditary motor and sensory neuropathy type 6",
          "peripheral neuropathy and optic atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0019551"
    }
  ],
  "roots": [
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}