{
  "id": 24642,
  "label": "RAB18 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700247",
  "properties": {
    "xrefs": [
      "GARD:0026395",
      "MEDGEN:1650928",
      "UMLS:C4750414"
    ],
    "synonyms": [
      "Warburg micro spectrum"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080636",
          "GARD:0020342",
          "MEDGEN:1826052",
          "OMIMPS:309800",
          "Orphanet:202948",
          "UMLS:C5679782"
        ],
        "synonyms": [
          "microphthalmia, syndromic",
          "syndrome associated with microphthalmia",
          "syndromic microphthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that is part of a larger syndrome."
      },
      "child_count": 57,
      "reference_id": "MONDO:0016073"
    }
  ],
  "children": [
    {
      "id": 17118,
      "label": "Warburg micro syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16087,
        18774,
        24642
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060237",
          "GARD:0005534",
          "MEDGEN:1781286",
          "NORD:1898",
          "OMIMPS:600118",
          "Orphanet:2510",
          "UMLS:C5442005"
        ],
        "synonyms": [
          "WARBM",
          "Warburg micro syndrome",
          "micro syndrome",
          "microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism",
          "microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016649"
    },
    {
      "id": 21280,
      "label": "Martsolf syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24642
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025377",
          "MEDGEN:208658",
          "OMIMPS:212720",
          "UMLS:C0796037"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0023910"
    }
  ],
  "roots": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia"
    }
  ]
}