{
  "id": 13775,
  "label": "Temple-Baraitser syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012735",
  "properties": {
    "xrefs": [
      "GARD:0009441",
      "MEDGEN:395636",
      "MESH:C567516",
      "OMIM:611816",
      "Orphanet:420561",
      "UMLS:C2678486"
    ],
    "synonyms": [
      "TMBTS",
      "Temple-Baraitser syndrome",
      "severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome",
      "intellectual disability, severe, and absent nails of hallux and pollex",
      "mental retardation, severe, and absent nails of hallux and pollex",
      "severe intellectual disability and absent nails of hallux and pollex",
      "severe mental retardation and absent nails of hallux and pollex"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24211,
      "label": "KCNH1 associated disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027274"
        ],
        "synonyms": [
          "KCNH1 related disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100485"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24211,
      "label": "KCNH1 associated disorder"
    }
  ]
}