{
  "id": 11726,
  "label": "occipital horn syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010572",
  "properties": {
    "xrefs": [
      "DOID:0111272",
      "GARD:0004017",
      "MEDGEN:82793",
      "MESH:C537860",
      "NANDO:1200654",
      "NANDO:2200581",
      "OMIM:304150",
      "Orphanet:198",
      "SCTID:59399004",
      "UMLS:C0268353"
    ],
    "synonyms": [
      "occipital horn syndrome",
      "occipital horn syndrome, X-linked recessive",
      "EDS IX (formerly)",
      "EDS IX, formerly",
      "EDS9",
      "EDS9, formerly",
      "Ehlers-Danlos syndrome, occipital horn type",
      "Ehlers-Danlos syndrome, occipital horn type (formerly)",
      "Ehlers-Danlos syndrome, occipital horn type, formerly",
      "OHS",
      "cutis laxa X-linked",
      "cutis laxa, X-linked",
      "cutis laxa, X-linked, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect."
  },
  "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": 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": 17987,
      "label": "disorder of copper metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17986
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021354",
          "ICD9:275.1",
          "MEDGEN:507647",
          "MedDRA:10061091",
          "Orphanet:309839",
          "SCTID:79886009",
          "UMLS:C0012714",
          "icd11.foundation:1926278296"
        ],
        "synonyms": [
          "inborn cellular copper ion homeostasis disorder",
          "inborn error of cellular copper ion homeostasis",
          "rare inborn error of cellular copper ion homeostasis",
          "copper Transport disorders"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017762"
    },
    {
      "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": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 17987,
      "label": "disorder of copper metabolism"
    },
    {
      "id": 23977,
      "label": "inherited cutis laxa"
    }
  ]
}