{
  "id": 15053,
  "label": "microcephalic primordial dwarfism due to ZNF335 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014043",
  "properties": {
    "xrefs": [
      "DOID:0070294",
      "GARD:0017498",
      "MEDGEN:767413",
      "OMIM:615095",
      "Orphanet:329228",
      "SCTID:724141003",
      "UMLS:C3554499"
    ],
    "synonyms": [
      "microcephalic primordial dwarfism, Walsh type",
      "MCPH10",
      "microcephaly 10, primary, autosomal recessive",
      "primary autosomal recessive microcephaly 10"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17129,
      "label": "autosomal recessive primary microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16689,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070296",
          "GARD:0012117",
          "MEDGEN:777995",
          "MESH:C579935",
          "OMIMPS:251200",
          "Orphanet:2512",
          "SCTID:715981004",
          "UMLS:C3711387"
        ],
        "synonyms": [
          "true microcephaly",
          "MCPH",
          "microcephalia vera",
          "microcephaly vera",
          "microcephaly, primary autosomal recessive",
          "microcephaly, primary, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment."
      },
      "child_count": 87,
      "reference_id": "MONDO:0016660"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17129,
      "label": "autosomal recessive primary microcephaly"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}