{
  "id": 10254,
  "label": "Cohen syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008999",
  "properties": {
    "xrefs": [
      "DOID:0111590",
      "GARD:0006126",
      "ICD9:759.89",
      "MEDGEN:78539",
      "MESH:C536438",
      "MedDRA:10049066",
      "NANDO:2200750",
      "NORD:986",
      "OMIM:216550",
      "Orphanet:193",
      "SCTID:56604005",
      "UMLS:C0265223",
      "icd11.foundation:1188737383"
    ],
    "synonyms": [
      "Cohen syndrome",
      "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness",
      "COH1",
      "Chs1",
      "Chs1, formerly",
      "Coh",
      "hypotonia, obesity, and prominent incisors",
      "pepper syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16076,
      "label": "constitutional neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3689,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019809",
          "MEDGEN:1785816",
          "NCIT:C61242",
          "Orphanet:101987",
          "UMLS:C3805116",
          "icd11.foundation:87096615"
        ],
        "synonyms": [
          "congenital neutropenia",
          "genetic infantile agranulocytosis",
          "infantile genetic agranulocytosis",
          "Kostmann disease",
          "Kostmann neutropenia",
          "Kostmann syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015134"
    },
    {
      "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": 24320,
      "label": "autosomal recessive syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24319
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of syndromic intellectual disability."
      },
      "child_count": 14,
      "reference_id": "MONDO:0100598"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16076,
      "label": "constitutional neutropenia"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 24320,
      "label": "autosomal recessive syndromic intellectual disability"
    }
  ]
}