{
  "id": 10755,
  "label": "Miller-Dieker lissencephaly syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009532",
  "properties": {
    "xrefs": [
      "DECIPHER:21",
      "DOID:0060469",
      "GARD:0003669",
      "ICD9:758.33",
      "MEDGEN:78538",
      "MedDRA:10068361",
      "NANDO:1201083",
      "NCIT:C124852",
      "OMIM:247200",
      "Orphanet:531",
      "SCTID:253148005",
      "UMLS:C0265219"
    ],
    "synonyms": [
      "Miller-Dieker lissencephaly syndrome",
      "Miller-Dieker syndrome",
      "lissencephaly due to 17p13.3 deletion",
      "monosomy 17p13.3",
      "telomeric deletion 17p",
      "MDLS",
      "Miller-Dieker syndrome chromosome region",
      "chromosome 17P13.3 deletion syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16079,
      "label": "classic lissencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005049",
          "MEDGEN:98463",
          "NANDO:1201068",
          "NANDO:1201069",
          "Orphanet:102009",
          "UMLS:C0431375",
          "icd11.foundation:570001324"
        ],
        "synonyms": [
          "lissencephaly type 1",
          "ILS",
          "lissencephaly classic",
          "lissencephaly sequence isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015146"
    },
    {
      "id": 20965,
      "label": "chromosome 17p deletion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17304
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020817",
          "MEDGEN:1842221",
          "MESH:C538045",
          "NCIT:C36499",
          "Orphanet:261965",
          "UMLS:C5679671",
          "icd11.foundation:527787991"
        ],
        "synonyms": [
          "chromosome 17p deletion",
          "partial deletion of chromosome 17p",
          "partial deletion of the short arm of chromosome 17",
          "partial monosomy of chromosome 17p",
          "partial monosomy of the short arm of chromosome 17",
          "partial monosomy of the short arm of chromosome type 17",
          "17p deletion",
          "17p monosomy",
          "17p- syndrome",
          "chromosome 17p deletion syndrome",
          "del(17p)",
          "deletion 17p",
          "deletion 17p syndrome",
          "interstitial deletion 17p",
          "loss of chromosome 17p",
          "monosomy 17p",
          "partial monosomy 17p"
        ],
        "definition": "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17."
      },
      "child_count": 4,
      "reference_id": "MONDO:0022754"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16079,
      "label": "classic lissencephaly"
    },
    {
      "id": 20965,
      "label": "chromosome 17p deletion"
    }
  ]
}