{
  "id": 14773,
  "label": "PYCR1-related de Barsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013755",
  "properties": {
    "xrefs": [
      "DOID:0070138",
      "GARD:0017340",
      "MEDGEN:482429",
      "OMIM:614438",
      "Orphanet:293633",
      "UMLS:C3280799"
    ],
    "synonyms": [
      "ARCL3B",
      "PYCR1 de Barsy syndrome",
      "PYCR1 deficiency",
      "de Barsy syndrome caused by mutation in PYCR1",
      "pyrroline-5-carboxylate reductase 1 deficiency",
      "autosomal recessive cutis laxa type IIIB",
      "cutis laxa, autosomal recessive, type 3B",
      "cutis laxa, autosomal recessive, type IIIB"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17850,
      "label": "de Barsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        19146
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070143",
          "GARD:0000049",
          "MEDGEN:82794",
          "MESH:C535990",
          "NORD:1034",
          "Orphanet:2962",
          "PMID:18388779",
          "SCTID:238826008",
          "UMLS:C0268354"
        ],
        "synonyms": [
          "De Barsy syndrome",
          "cutis laxa-corneal clouding-intellectual disability syndrome",
          "progeroid syndrome, De Barsy type",
          "autosomal recessive cutis laxa type III",
          "corneal clouding, cutis laxa and intellectual disability",
          "corneal clouding, cutis laxa and mental retardation",
          "cutis laxa growth deficiency syndrome",
          "progeroid syndrome of de Barsy",
          "progeroid syndrome, de Barsy type"
        ],
        "definition": "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017569"
    },
    {
      "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": 17850,
      "label": "de Barsy syndrome"
    },
    {
      "id": 23977,
      "label": "inherited cutis laxa"
    }
  ]
}