{
  "id": 24796,
  "label": "restrictive dermopathy 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800042",
  "properties": {
    "xrefs": [
      "DOID:0070369",
      "GARD:0026425",
      "MEDGEN:1812447",
      "MESH:C536920",
      "OMIM:275210",
      "SCTID:400128006",
      "UMLS:C5676878"
    ],
    "synonyms": [
      "restrictive dermopathy",
      "fetal hypokinesia sequence due to restrictive dermopathy",
      "foetal hypokinesia sequence due to restrictive dermopathy",
      "hyperkeratosis-contracture syndrome",
      "restrictive dermopathy 1, lethal",
      "tight skin contracture syndrome, lethal",
      "restrictive dermopathy, lethal"
    ],
    "definition": "A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 20345,
      "label": "laminopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019444",
          "MEDGEN:1716073",
          "MESH:D000083083",
          "Orphanet:98301",
          "UMLS:C5392094"
        ],
        "definition": "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina."
      },
      "child_count": 14,
      "reference_id": "MONDO:0021106"
    },
    {
      "id": 22227,
      "label": "restrictive dermopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060762",
          "GARD:0001516",
          "MEDGEN:98356",
          "OMIMPS:275210",
          "Orphanet:1662",
          "UMLS:C0406585"
        ],
        "synonyms": [
          "lethal hyperkeratosis-contracture syndrome",
          "lethal restrictive dermopathy",
          "lethal tight skin-contracture syndrome",
          "hyperkeratosis-contracture syndrome"
        ],
        "definition": "A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities."
      },
      "child_count": 2,
      "reference_id": "MONDO:0031213"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    },
    {
      "id": 22227,
      "label": "restrictive dermopathy"
    }
  ]
}