{
  "id": 12507,
  "label": "congenital cataracts-facial dysmorphism-neuropathy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011402",
  "properties": {
    "xrefs": [
      "GARD:0016645",
      "ICD9:759.89",
      "MEDGEN:346973",
      "MESH:C565822",
      "OMIM:604168",
      "Orphanet:48431",
      "SCTID:702433001",
      "UMLS:C1858726"
    ],
    "synonyms": [
      "CCFDN",
      "congenital cataracts-facial dysmorphism-neuropathy syndrome",
      "cataract, congenital, with Facial Dysmorphism and neuropathy",
      "congenital cataracts, facial dysmorphism, and neuropathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17364,
      "label": "partial duplication of the short arm of chromosome 16",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:208643",
          "Orphanet:262794",
          "UMLS:C0795861",
          "icd11.foundation:325064766"
        ],
        "synonyms": [
          "partial duplication of chromosome 16p",
          "partial duplication of the short arm of chromosome type 16",
          "partial trisomy of chromosome 16p",
          "partial trisomy of the short arm of chromosome 16",
          "16p duplication",
          "16p trisomy",
          "Duplication 16p",
          "chromosome 16p duplication",
          "partial trisomy 16p",
          "trisomy 16p"
        ],
        "definition": "Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016949"
    },
    {
      "id": 19713,
      "label": "autosomal recessive degenerative and progressive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019415",
          "MEDGEN:1842627",
          "Orphanet:98098",
          "UMLS:C5681515"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020046"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17364,
      "label": "partial duplication of the short arm of chromosome 16"
    },
    {
      "id": 19713,
      "label": "autosomal recessive degenerative and progressive cerebellar ataxia"
    }
  ]
}