{
  "id": 16753,
  "label": "neuromuscular disease caused by qualitative or quantitative defects of perlecan",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016151",
  "properties": {
    "xrefs": [
      "GARD:0020398",
      "MEDGEN:1842752",
      "Orphanet:207101",
      "UMLS:C5680831"
    ],
    "synonyms": [
      "qualitative or quantitative defects of perlecan"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020388",
          "MEDGEN:1842598",
          "Orphanet:207049",
          "UMLS:C5680807"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0016139"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 10384,
      "label": "Silverman-Handmaker type dyssegmental dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16753,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090032",
          "GARD:0002026",
          "ICD9:759.89",
          "MEDGEN:347372",
          "MESH:C537998",
          "OMIM:224410",
          "Orphanet:1865",
          "SCTID:93132001",
          "UMLS:C1857100"
        ],
        "synonyms": [
          "Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type",
          "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type",
          "DDSH",
          "dyssegmental dwarfism Silverman-Handmaker type",
          "dyssegmental dwarfism, Silverman-Handmaker type",
          "dyssegmental dysplasia Silverman-Handmaker type",
          "dyssegmental dysplasia, Silverman-Handmaker type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009140"
    },
    {
      "id": 10930,
      "label": "Schwartz-Jampel syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16753,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000250",
          "ICD10CM:G71.13",
          "ICD9:759.89",
          "MEDGEN:19892",
          "NANDO:1200224",
          "NANDO:2100235",
          "NANDO:2200876",
          "NCIT:C35008",
          "NORD:1697",
          "Orphanet:800",
          "SCTID:29145002",
          "UMLS:C0036391",
          "icd11.foundation:1725668060"
        ],
        "synonyms": [
          "Aberfeld syndrome",
          "Catel-Hempel syndrome",
          "Catel-Hempel type dysostosis enchondralis metaepiphysaria",
          "Osteochondromuscular dystrophy",
          "SJS",
          "Schwartz Jampel Syndrome",
          "Schwartz-Jampel syndrome",
          "Schwartz-Jampel-Aberfeld syndrome",
          "burton skeletal dysplasia",
          "burton syndrome",
          "dysostosis enchondralis metaepiphysaria, Catel-Hempel type",
          "myotonic chondrodystrophy",
          "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies",
          "osteochondromuscular dystrophy",
          "Schwartz Jampel Aberfeld syndrome",
          "Schwartz Jampel syndrome",
          "myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities",
          "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009717"
    }
  ],
  "roots": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}