{
  "id": 10304,
  "label": "ALDH18A1-related de Barsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009053",
  "properties": {
    "xrefs": [
      "DOID:0070132",
      "GARD:0016638",
      "ICD9:371.89",
      "MEDGEN:1720006",
      "OMIM:219150",
      "Orphanet:35664",
      "SCTID:59252009",
      "UMLS:C5234852"
    ],
    "synonyms": [
      "P5CS deficiency",
      "ARCL3A",
      "Delta-1-pyrroline 5-carboxylate synthetase deficiency",
      "neurocutaneous syndrome, Bicknell type",
      "De Barsy syndrome a",
      "autosomal recessive cutis laxa type IIIA",
      "cutis laxa, autosomal recessive, type 3A",
      "cutis laxa, autosomal recessive, type IIIA",
      "cutis laxa, corneal clouding, and intellectual disability",
      "cutis laxa, corneal clouding, and mental retardation",
      "progeroid syndrome of De Barsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity."
  },
  "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": 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": 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"
    },
    {
      "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": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 17850,
      "label": "de Barsy syndrome"
    },
    {
      "id": 23875,
      "label": "P5CS deficiency"
    },
    {
      "id": 23977,
      "label": "inherited cutis laxa"
    }
  ]
}