{
  "id": 14153,
  "label": "RIN2 syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013115",
  "properties": {
    "xrefs": [
      "GARD:0017120",
      "MEDGEN:416526",
      "MESH:C567770",
      "OMIM:613075",
      "Orphanet:217335",
      "SCTID:723367005",
      "UMLS:C2751321"
    ],
    "synonyms": [
      "MACS syndrome",
      "RIN2 deficiency",
      "RIN2 syndrome",
      "macrocephaly-alopecia-cutis laxa-scoliosis syndrome",
      "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome",
      "macrocephaly, alopecia, cutis laxa, and scoliosis",
      "tall forehead, sparse hair, skin hyperextensibility, and scoliosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23977,
      "label": "inherited cutis laxa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026092",
          "MEDGEN:609465",
          "OMIMPS:123700",
          "UMLS:C0432334"
        ],
        "synonyms": [
          "hereditary cutis laxa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of cutis laxa that is inherited."
      },
      "child_count": 28,
      "reference_id": "MONDO:0100237"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23977,
      "label": "inherited cutis laxa"
    }
  ]
}