{
  "id": 19377,
  "label": "autosomal recessive cutis laxa type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019572",
  "properties": {
    "xrefs": [
      "DOID:0070144",
      "GARD:0008480",
      "MEDGEN:78663",
      "MESH:C536225",
      "Orphanet:90349",
      "PMID:19401719",
      "SCTID:254222002",
      "UMLS:C0268351"
    ],
    "synonyms": [
      "ARCL1",
      "autosomal recessive cutis laxa type 1",
      "autosomal recessive cutis laxa with severe systemic involvement",
      "autosomal recessive cutis laxa, pulmonary emphysema type",
      "autosomal recessive cutis laxa type I",
      "cutis laxa, autosomal recessive type 1",
      "cutis laxa, type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 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": [
    {
      "id": 10303,
      "label": "cutis laxa, autosomal recessive, type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19377
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070135",
          "GARD:0015157",
          "MEDGEN:1846304",
          "MESH:C562628",
          "OMIM:219100",
          "SCTID:59451000",
          "UMLS:C5848058"
        ],
        "synonyms": [
          "ARCL1",
          "ARCL1A",
          "autosomal recessive cutis laxa type IA",
          "cutis laxa, autosomal recessive",
          "cutis laxa, autosomal recessive, type IA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009052"
    },
    {
      "id": 14772,
      "label": "cutis laxa, autosomal recessive, type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19377
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070133",
          "GARD:0015804",
          "MEDGEN:482428",
          "OMIM:614437",
          "UMLS:C3280798"
        ],
        "synonyms": [
          "ARCL1B",
          "autosomal recessive cutis laxa type IB",
          "cutis laxa, autosomal recessive, type IB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013754"
    },
    {
      "id": 25938,
      "label": "cutis laxa, autosomal recessive, type 1d",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19377
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027015",
          "MEDGEN:1857168",
          "OMIM:620780",
          "UMLS:C5935602"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958335"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 23977,
      "label": "inherited cutis laxa"
    }
  ]
}