{
  "id": 22641,
  "label": "neuropathy, congenital hypomelinating",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0033352",
  "properties": {
    "xrefs": [
      "GARD:0025794",
      "MEDGEN:97965",
      "OMIMPS:605253",
      "UMLS:C0393818"
    ],
    "synonyms": [
      "CHN"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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": 12625,
      "label": "Charcot-Marie-Tooth disease type 4E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911,
        22641
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110195",
          "GARD:0009203",
          "MEDGEN:1648303",
          "MESH:C535301",
          "NORD:1506",
          "OMIM:605253",
          "Orphanet:99951",
          "SCTID:763135001",
          "UMLS:C4721436",
          "icd11.foundation:225958466"
        ],
        "synonyms": [
          "CMT4E",
          "Charcot-Marie-Tooth disease type 4E",
          "Neuropathy, Congenital Hypomyelination",
          "autosomal recessive congenital hypomyelinating neuropathy",
          "hypomyelinating neuropathy, congenital, 1",
          "CHN",
          "CHN1",
          "CMT 4E",
          "Charcot Marie Tooth disease type 4E",
          "Charcot-Marie-Tooth disease, type 4E",
          "Charcot-Marie-Tooth neuropathy, type 4E",
          "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE",
          "congenital hypomyelinating neuropathy (CHN)",
          "congenital hypomyelination neuropathy",
          "hypomyelination, Severe congenital",
          "neuropathy, congenital hypomyelinating",
          "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive",
          "neuropathy, congenital hypomyelinating, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011527"
    },
    {
      "id": 20166,
      "label": "neuropathy, congenital hypomyelinating, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22641
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025242",
          "MEDGEN:1648446",
          "OMIM:618184",
          "UMLS:C4722277"
        ],
        "synonyms": [
          "CHN2",
          "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2",
          "hypomyelinating neuropathy, congenital, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020765"
    },
    {
      "id": 20167,
      "label": "neuropathy, congenital hypomyelinating, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22641,
        24772
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018567",
          "MEDGEN:1648417",
          "OMIM:618186",
          "UMLS:C4748608"
        ],
        "synonyms": [
          "CHN3",
          "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3",
          "hypomyelinating neuropathy, congenital, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020766"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}