{
  "id": 2759,
  "label": "Neu-Laxova syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000179",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4198,
      "label": "integumentary system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:16",
          "EFO:0010285",
          "MEDGEN:712400",
          "SCTID:128598002",
          "UMLS:C1290011"
        ],
        "synonyms": [
          "disease of integumental system",
          "disease or disorder of integumental system",
          "disorder of integumental system",
          "integumental system disease",
          "integumental system disease or disorder",
          "integumentary disease",
          "disorder of integument"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the integumental system."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002051"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16080,
      "label": "lissencephaly type 3",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112232",
          "GARD:0019821",
          "MEDGEN:369910",
          "Orphanet:102011",
          "UMLS:C1969029",
          "icd11.foundation:1533765623"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015148"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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": 18528,
      "label": "3-phosphoglycerate dehydrogenase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025130",
          "ICD9:270.7",
          "MEDGEN:663158",
          "Orphanet:422519",
          "SCTID:303098002",
          "UMLS:C0580190",
          "icd11.foundation:460538363"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0018491"
    }
  ],
  "children": [
    {
      "id": 10948,
      "label": "Neu-Laxova syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2759
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009736"
    },
    {
      "id": 15465,
      "label": "Neu-Laxova syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2759
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080075",
          "GARD:0022335",
          "MEDGEN:863456",
          "OMIM:616038",
          "Orphanet:583602",
          "UMLS:C4015019"
        ],
        "synonyms": [
          "Neu-Laxova syndrome 2",
          "Neu-Laxova syndrome caused by mutation in PSAT1",
          "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency",
          "Neu-Laxova syndrome type 2",
          "PSAT1 Neu-Laxova syndrome",
          "phosphoserine aminotransferase deficiency, prenatal form",
          "NEU-Laxova syndrome 2",
          "NLS2"
        ],
        "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 PSAT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014466"
    },
    {
      "id": 22923,
      "label": "neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2759
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022337",
          "MEDGEN:1843313",
          "Orphanet:583612",
          "UMLS:C5680338"
        ],
        "synonyms": [
          "3-phosphoserine phosphatase deficiency, prenatal form"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035930"
    }
  ],
  "roots": [
    {
      "id": 4198,
      "label": "integumentary system disorder"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16080,
      "label": "lissencephaly type 3"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 18528,
      "label": "3-phosphoglycerate dehydrogenase deficiency"
    }
  ]
}