{
  "id": 10948,
  "label": "Neu-Laxova syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009736",
  "properties": {
    "xrefs": [
      "DOID:0080076",
      "GARD:0022336",
      "MEDGEN:1633287",
      "OMIM:256520",
      "Orphanet:583607",
      "UMLS:C4551478"
    ],
    "synonyms": [
      "3-Phosphoglycerate dehydrogenase deficiency, neonatal form",
      "3-phosphoglycerate dehydrogenase deficiency, prenatal form",
      "Neu-Laxova syndrome 1",
      "Neu-Laxova syndrome caused by mutation in PHGDH",
      "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency",
      "Neu-Laxova syndrome type 1",
      "PHGDH Neu-Laxova syndrome",
      "NLS1",
      "Neu-Laxova syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2759,
      "label": "Neu-Laxova syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198,
        4370,
        16080,
        16087,
        16198,
        18528
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000102",
          "ICD9:759.89",
          "MEDGEN:78537",
          "MESH:C536405",
          "OMIMPS:256520",
          "Orphanet:2671",
          "SCTID:77817004",
          "UMLS:C0265218",
          "icd11.foundation:893358230"
        ],
        "synonyms": [
          "NLS",
          "Neu Laxova syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism."
      },
      "child_count": 18,
      "reference_id": "MONDO:0000179"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2759,
      "label": "Neu-Laxova syndrome"
    }
  ]
}