{
  "id": 10576,
  "label": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009344",
  "properties": {
    "xrefs": [
      "GARD:0000584",
      "MEDGEN:344653",
      "MESH:C535615",
      "OMIM:235760",
      "Orphanet:2153",
      "SCTID:721223002",
      "UMLS:C1856110"
    ],
    "synonyms": [
      "Al Gazali-Donnai-Muller syndrome",
      "Al-Gazali-Donnai-Mueller syndrome",
      "Hirschsprung disease with hypoplastic nails and dysmorphic facial features",
      "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988."
  },
  "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": 20415,
      "label": "intestinal motility disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:586448",
          "UMLS:C0400865"
        ],
        "synonyms": [
          "disorder of intestinal motility"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A disease that has its basis in the disruption of intestinal motility."
      },
      "child_count": 15,
      "reference_id": "MONDO:0021189"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 20415,
      "label": "intestinal motility disease"
    }
  ]
}