{
  "id": 14832,
  "label": "trichohepatoenteric syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013818",
  "properties": {
    "xrefs": [
      "DOID:0111416",
      "GARD:0015819",
      "MEDGEN:482919",
      "OMIM:614602",
      "UMLS:C3281289"
    ],
    "synonyms": [
      "SKIV2L tricho-hepato-enteric syndrome",
      "Trichohepatoenteric syndrome 2",
      "Trichohepatoenteric syndrome type 2",
      "tricho-hepato-enteric syndrome caused by mutation in SKIV2L",
      "THES2",
      "TRICHOHEPATOENTERIC syndrome 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10352,
      "label": "trichohepatoenteric syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6756,
        21247,
        25666
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111414",
          "GARD:0005258",
          "MEDGEN:347405",
          "OMIMPS:222470",
          "Orphanet:84064",
          "SCTID:703406006",
          "UMLS:C1857276",
          "icd11.foundation:1470910753"
        ],
        "synonyms": [
          "SD/THE",
          "Tricho-hepato-enteric syndrome",
          "Trichohepatoenteric syndrome",
          "Trichohepatoenteric syndrome type 1",
          "phenotypic diarrhea",
          "phenotypic diarrhoea",
          "syndromic diarrhea",
          "syndromic diarrhea/Tricho-hepato-enteric syndrome",
          "syndromic diarrhoea",
          "Syndromatic diarrhea",
          "Syndromatic diarrhoea",
          "THES1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009105"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10352,
      "label": "trichohepatoenteric syndrome"
    }
  ]
}