{
  "id": 10735,
  "label": "Larsen-like syndrome, B3GAT3 type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009511",
  "properties": {
    "xrefs": [
      "DOID:0080575",
      "GARD:0017308",
      "MEDGEN:480034",
      "MESH:C537874",
      "OMIM:245600",
      "Orphanet:284139",
      "UMLS:C3278404"
    ],
    "synonyms": [
      "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects",
      "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome",
      "JDSCD",
      "Larsen syndrome, autosomal recessive",
      "Larsen syndrome, autosomal recessive, formerly",
      "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects",
      "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects",
      "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16168,
      "label": "congenital disorder of glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5212",
          "GARD:0010307",
          "ICD9:271.8",
          "MEDGEN:76469",
          "MESH:D018981",
          "NCIT:C84615",
          "Orphanet:137",
          "SCTID:238049009",
          "UMLS:C0282577"
        ],
        "synonyms": [
          "CDG",
          "carbohydrate deficient glycoprotein syndrome",
          "carbohydrate-deficient glycoprotein syndrome",
          "congenital disorder of glycosylation",
          "carbohydrate-deficient glycoprotein syndromes",
          "congenital disorders of glycosylation"
        ],
        "definition": "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation."
      },
      "child_count": 25,
      "reference_id": "MONDO:0015286"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "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"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16168,
      "label": "congenital disorder of glycosylation"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}