{
  "id": 10077,
  "label": "polyneuropathy-hand defect syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008809",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16220,
      "label": "hereditary motor and sensory neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748
      ],
      "type_id": 0,
      "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)"
      },
      "child_count": 8,
      "reference_id": "MONDO:0015358"
    },
    {
      "id": 16223,
      "label": "hereditary sensory and autonomic neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4428,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050548",
          "GARD:0012688",
          "ICD9:356.2",
          "MEDGEN:14355",
          "MESH:D009477",
          "NCIT:C125386",
          "OMIMPS:162400",
          "Orphanet:140471",
          "SCTID:11442006",
          "UMLS:C0027889",
          "icd11.foundation:1091217288"
        ],
        "synonyms": [
          "CIP",
          "HSAN",
          "congenital insensitivity to pain",
          "congenital pain insensitivity",
          "hereditary sensory and autonomic neuropathy",
          "hereditary sensory neuropathy",
          "hereditary sensory peripheral neuropathy",
          "indifference to pain, Congenital, autosomal recessive",
          "hereditary sensory autonomic neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015364"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16220,
      "label": "hereditary motor and sensory neuropathy"
    },
    {
      "id": 16223,
      "label": "hereditary sensory and autonomic neuropathy"
    }
  ]
}