{
  "id": 15810,
  "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014823",
  "properties": {
    "xrefs": [
      "DOID:0060935",
      "GARD:0017896",
      "MEDGEN:1798903",
      "OMIM:616900",
      "Orphanet:488632",
      "UMLS:C5567480"
    ],
    "synonyms": [
      "IHPRF3",
      "hypotonia, infantile, with psychomotor retardation and characteristic facies 3",
      "hypotonia, infantile, with psychomotor retardation and characteristic facies type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 15183,
      "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017609",
          "MEDGEN:1642314",
          "OMIMPS:615419",
          "Orphanet:371364",
          "UMLS:C4706556"
        ],
        "synonyms": [
          "IHPRF",
          "IHPRF syndrome",
          "hypotonia, infantile, with psychomotor retardation and characteristic facies",
          "hypotonia-speech impairment-severe cognitive delay syndrome",
          "infantile hypotonia-psychomotor retardation-characteristic facies syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)."
      },
      "child_count": 9,
      "reference_id": "MONDO:0014176"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 15183,
      "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies"
    }
  ]
}