{
  "id": 21512,
  "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024567",
  "properties": {
    "xrefs": [
      "GARD:0018457",
      "MEDGEN:815784",
      "OMIM:615419",
      "Orphanet:700336",
      "UMLS:C3809454"
    ],
    "synonyms": [
      "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies",
      "hypotonia, infantile, with psychomotor retardation and characteristic facies 1",
      "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN",
      "IHPRF1",
      "Ihprf"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene."
  },
  "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"
    }
  ]
}