{
  "id": 17626,
  "label": "syndromic oculocutaneous albinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017305",
  "properties": {
    "xrefs": [
      "GARD:0021125",
      "MEDGEN:1843078",
      "Orphanet:284811",
      "UMLS:C5681016"
    ],
    "synonyms": [
      "syndrome associated with oculocutaneous albinism",
      "syndromic oculocutaneous albinism"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A oculocutaneous albinism that is part of a larger syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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": 18283,
      "label": "disorder of melanin metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021528",
          "MEDGEN:1842889",
          "Orphanet:352728",
          "UMLS:C5680988"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0018134"
    },
    {
      "id": 19141,
      "label": "hypopigmentation of the skin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0001010",
          "MEDGEN:102477",
          "MESH:D017496",
          "MedDRA:10040868",
          "Orphanet:79376",
          "UMLS:C0162835"
        ],
        "synonyms": [
          "hypopigmentation of the skin",
          "hypopigmentation of the skin (disease)",
          "hypomelanoses",
          "hypomelanosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019290"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 10221,
      "label": "Chediak-Higashi syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16076,
        16355,
        17626,
        17972,
        19748,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2935",
          "GARD:0006035",
          "ICD10CM:E70.330",
          "MEDGEN:3347",
          "MESH:D002609",
          "MedDRA:10008415",
          "NANDO:1200350",
          "NANDO:1200639",
          "NANDO:2200724",
          "NCIT:C2941",
          "NORD:921",
          "OMIM:214500",
          "Orphanet:167",
          "SCTID:111396008",
          "UMLS:C0007965"
        ],
        "synonyms": [
          "CHS",
          "ChC)diak-Higashi disease",
          "ChC)diak-Higashi-Steinbrink syndrome",
          "Chediak Higashi Syndrome",
          "Chediak Higashi syndrome",
          "Chediak-Higashi syndrome",
          "Chédiak-Higashi disease",
          "Chédiak-Higashi syndrome",
          "Chédiak-Higashi-Steinbrink syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "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": "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008963"
    },
    {
      "id": 10977,
      "label": "oculocerebral hypopigmentation syndrome, Cross type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17626,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000105",
          "ICD9:759.89",
          "MEDGEN:423639",
          "NORD:1520",
          "OMIM:257800",
          "Orphanet:2719",
          "SCTID:17827007",
          "UMLS:C2936910"
        ],
        "synonyms": [
          "Cross syndrome",
          "Oculocerebral Syndrome with Hypopigmentation",
          "Kramer syndrome",
          "hypopigmentation oculocerebral syndrome Cross type",
          "oculocerebral hypopigmentation syndrome",
          "oculocerebral syndrome with hypopigmentation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009767"
    },
    {
      "id": 18403,
      "label": "Griscelli syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060831",
          "GARD:0010913",
          "ICD9:270.2",
          "MEDGEN:585090",
          "NANDO:1200640",
          "OMIMPS:214450",
          "Orphanet:381",
          "SCTID:37548006",
          "UMLS:C0398794"
        ],
        "synonyms": [
          "ChC)diak-Higashi-like syndrome",
          "Chédiak-Higashi-like syndrome",
          "Ch��diak-Higashi-like syndrome",
          "Griscelli-PruniC)ras syndrome",
          "Griscelli-Pruniéras syndrome",
          "Griscelli-Pruni��ras syndrome",
          "partial albinism-immunodeficiency syndrome",
          "Griscelli disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018306"
    },
    {
      "id": 19153,
      "label": "Hermansky-Pudlak syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17626,
        17972,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3753",
          "GARD:0006643",
          "ICD10CM:E70.331",
          "ICD9:270.2",
          "MEDGEN:36313",
          "MESH:D022861",
          "MedDRA:10071775",
          "NANDO:1200638",
          "NCIT:C37261",
          "NORD:1918",
          "OMIMPS:203300",
          "Orphanet:79430",
          "SCTID:9311003",
          "UMLS:C0079504",
          "icd11.foundation:2089801290"
        ],
        "synonyms": [
          "HPS",
          "HPS (Hermansky Pudlak syndrome)",
          "Hepatopulmonary Syndrome",
          "Hermansky Pudlak syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity."
      },
      "child_count": 27,
      "reference_id": "MONDO:0019312"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18283,
      "label": "disorder of melanin metabolism"
    },
    {
      "id": 19141,
      "label": "hypopigmentation of the skin"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}