{
  "id": 10553,
  "label": "Hallermann-Streiff syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009318",
  "properties": {
    "xrefs": [
      "DOID:4534",
      "GARD:0000288",
      "MEDGEN:5414",
      "MESH:D006210",
      "NANDO:2200973",
      "NCIT:C84746",
      "NORD:1888",
      "OMIM:234100",
      "Orphanet:2108",
      "SCTID:7903009",
      "UMLS:C0018522"
    ],
    "synonyms": [
      "FranC'ois dyscephalic syndrome",
      "Francois dyscephalic syndrome",
      "François dyscephalic syndrome",
      "Hallermann syndrome",
      "Hallermann's syndrome",
      "Hallermann-Streiff syndrome",
      "oculomandibulofacial syndrome",
      "HSS",
      "Hallermann Streiff Francois syndrome",
      "Hallermann Streiff syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026426"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death."
      },
      "child_count": 26,
      "reference_id": "MONDO:0800063"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder"
    }
  ]
}