{
  "id": 15700,
  "label": "cutis laxa, autosomal dominant 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014706",
  "properties": {
    "xrefs": [
      "DOID:0070131",
      "GARD:0016143",
      "MEDGEN:899774",
      "OMIM:616603",
      "UMLS:C4225268"
    ],
    "synonyms": [
      "ADCL3",
      "cutis laxa, autosomal dominant 3",
      "cutis laxa, autosomal dominant type 3",
      "autosomal dominant cutis laxa 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19376,
      "label": "autosomal dominant cutis laxa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        23977
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070142",
          "GARD:0001639",
          "MEDGEN:120630",
          "MESH:C562627",
          "Orphanet:90348",
          "SCTID:111388003",
          "UMLS:C0268350",
          "icd11.foundation:720393698"
        ],
        "synonyms": [
          "ADCL",
          "cutis laxa, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019571"
    },
    {
      "id": 23875,
      "label": "P5CS deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17672,
        17673
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026056"
        ],
        "synonyms": [
          "P5CS deficiency",
          "delta1-pyrroline-5-carboxylate synthetase deficiency"
        ],
        "definition": "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100126"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 19376,
      "label": "autosomal dominant cutis laxa"
    },
    {
      "id": 23875,
      "label": "P5CS deficiency"
    }
  ]
}