{
  "id": 19378,
  "label": "autosomal recessive cutis laxa type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019573",
  "properties": {
    "xrefs": [
      "GARD:0019134",
      "MEDGEN:609467",
      "Orphanet:90350",
      "UMLS:C0432337"
    ],
    "synonyms": [
      "ARCL2",
      "cutis laxa with joint laxity and developmental delay"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 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": 17672,
      "label": "inborn disorder of proline metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510,
        19094,
        23517
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021157",
          "MEDGEN:1842611",
          "Orphanet:289866",
          "UMLS:C5681004",
          "icd11.foundation:1707028291"
        ],
        "synonyms": [
          "disorder of proline metabolism",
          "inborn error of proline metabolic process",
          "inborn proline metabolic process disorder",
          "rare inborn error of proline metabolic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of proline metabolic process."
      },
      "child_count": 9,
      "reference_id": "MONDO:0017355"
    },
    {
      "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": 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": 14089,
      "label": "autosomal recessive cutis laxa type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19378,
        24803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070137",
          "GARD:0001641",
          "MEDGEN:414526",
          "MESH:C567855",
          "OMIM:612940",
          "Orphanet:357064",
          "UMLS:C2751987"
        ],
        "synonyms": [
          "ARCL2, progeroid type",
          "ARCL2B",
          "PYCR1 autosomal recessive cutis laxa type 2",
          "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1",
          "autosomal recessive cutis laxa type 2, progeroid type",
          "autosomal recessive cutis laxa type 2B",
          "autosomal recessive cutis laxa type IIB",
          "cutis laxa with progeroid features",
          "cutis laxa, autosomal recessive type 2B",
          "cutis laxa, autosomal recessive, type 2B",
          "cutis laxa, autosomal recessive, type IIB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013051"
    },
    {
      "id": 18307,
      "label": "autosomal recessive cutis laxa type 2A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19378,
        23867,
        24803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070134",
          "GARD:0001638",
          "MEDGEN:82795",
          "OMIM:219200",
          "Orphanet:357058",
          "UMLS:C0268355"
        ],
        "synonyms": [
          "ARCL2A",
          "autosomal recessive cutis laxa type 2A",
          "cutis laxa with Joint laxity and retarded development",
          "cutis laxa with bone dystrophy",
          "cutis laxa with congenital disorder of glycosylation",
          "cutis laxa with growth and developmental delay",
          "cutis laxa, autosomal recessive type 2A",
          "cutis laxa, autosomal recessive, type 2A",
          "cutis laxa, autosomal recessive, type IIA",
          "cutis laxa, debre type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018163"
    },
    {
      "id": 21753,
      "label": "autosomal recessive cutis laxa type 2D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19378
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070129",
          "GARD:0025498",
          "MEDGEN:1376619",
          "OMIM:617403",
          "UMLS:C4479409"
        ],
        "synonyms": [
          "ARCL2D",
          "autosomal recessive cutis laxa type IID",
          "cutis laxa, autosomal recessive, type 2D",
          "cutis laxa, autosomal recessive, type IID"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0027451"
    },
    {
      "id": 21754,
      "label": "autosomal recessive cutis laxa type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19378
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070140",
          "GARD:0025499",
          "MEDGEN:1385755",
          "OMIM:617402",
          "UMLS:C4479387"
        ],
        "synonyms": [
          "ARCL2C",
          "autosomal recessive cutis laxa type IIC",
          "cutis laxa, autosomal recessive, type 2C",
          "cutis laxa, autosomal recessive, type IIC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11."
      },
      "child_count": 0,
      "reference_id": "MONDO:0027462"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 17672,
      "label": "inborn disorder of proline metabolism"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    },
    {
      "id": 23977,
      "label": "inherited cutis laxa"
    }
  ]
}