{
  "id": 17118,
  "label": "Warburg micro syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016649",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 18774,
      "label": "lissencephaly spectrum disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        20383,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050453",
          "GARD:0012291",
          "HP:0001339",
          "MEDGEN:78604",
          "MESH:D054082",
          "MedDRA:10048911",
          "NANDO:1200574",
          "NANDO:2200817",
          "NCIT:C103921",
          "NORD:1374",
          "OMIMPS:607432",
          "Orphanet:48471",
          "SCTID:204036008",
          "UMLS:C0266463"
        ],
        "synonyms": [
          "Lissencephaly",
          "lissencephaly",
          "lissencephaly (disease)",
          "lissencephaly spectrum disorders",
          "Broad gyri of cerebrum",
          "large gyri of cerebrum",
          "macrogyria",
          "pachygyria"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis."
      },
      "child_count": 42,
      "reference_id": "MONDO:0018838"
    },
    {
      "id": 24642,
      "label": "RAB18 deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16704
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700247"
    }
  ],
  "children": [
    {
      "id": 11958,
      "label": "Warburg micro syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110716",
          "GARD:0024758",
          "MEDGEN:333142",
          "OMIM:600118",
          "UMLS:C1838625"
        ],
        "synonyms": [
          "RAB3GAP1 Warburg micro syndrome",
          "WARBM1",
          "Warburg micro syndrome 1",
          "Warburg micro syndrome caused by mutation in RAB3GAP1",
          "Warburg micro syndrome type 1",
          "WARBURG micro syndrome 1",
          "micro syndrome"
        ],
        "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": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010822"
    },
    {
      "id": 14663,
      "label": "Warburg micro syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110718",
          "GARD:0015778",
          "MEDGEN:481833",
          "OMIM:614222",
          "UMLS:C3280203"
        ],
        "synonyms": [
          "RAB18 Warburg micro syndrome",
          "WARBM3",
          "Warburg micro syndrome 3",
          "Warburg micro syndrome caused by mutation in RAB18",
          "Warburg micro syndrome type 3",
          "micro syndrome 3",
          "WARBURG micro syndrome 3"
        ],
        "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": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013638"
    },
    {
      "id": 14666,
      "label": "Warburg micro syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110717",
          "GARD:0015780",
          "MEDGEN:481844",
          "OMIM:614225",
          "UMLS:C3280214"
        ],
        "synonyms": [
          "RAB3GAP2 Warburg micro syndrome",
          "WARBM2",
          "Warburg micro syndrome 2",
          "Warburg micro syndrome caused by mutation in RAB3GAP2",
          "Warburg micro syndrome type 2",
          "micro syndrome 2",
          "WARBURG micro syndrome 2"
        ],
        "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": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013641"
    },
    {
      "id": 15300,
      "label": "Warburg micro syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110719",
          "GARD:0015998",
          "MEDGEN:816595",
          "OMIM:615663",
          "UMLS:C3810265"
        ],
        "synonyms": [
          "TBC1D20 Warburg micro syndrome",
          "WARBM4",
          "Warburg micro syndrome 4",
          "Warburg micro syndrome caused by mutation in TBC1D20",
          "Warburg micro syndrome type 4",
          "WARBURG micro syndrome 4"
        ],
        "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": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014296"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders"
    },
    {
      "id": 24642,
      "label": "RAB18 deficiency"
    }
  ]
}