{
  "id": 15183,
  "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014176",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [
    {
      "id": 15766,
      "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15183
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018458",
          "MEDGEN:907651",
          "OMIM:616801",
          "Orphanet:700333",
          "UMLS:C4225203"
        ],
        "synonyms": [
          "IHPRF2",
          "UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies",
          "hypotonia, infantile, with psychomotor retardation and characteristic facies 2",
          "hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2",
          "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80",
          "hypotonia, infantile, with psychomotor retardation and characteristic facies type 2"
        ],
        "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 UNC80 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014777"
    },
    {
      "id": 15810,
      "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15183
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014823"
    },
    {
      "id": 21512,
      "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15183
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024567"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}