{
  "id": 12393,
  "label": "H syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011273",
  "properties": {
    "xrefs": [
      "DOID:0111278",
      "GARD:0010239",
      "MEDGEN:400532",
      "MESH:C535391",
      "MESH:C538322",
      "NANDO:2200457",
      "OMIM:602782",
      "Orphanet:168569",
      "SCTID:711159002",
      "UMLS:C1864445",
      "icd11.foundation:107155297"
    ],
    "synonyms": [
      "Asrar Facharzt Haque syndrome",
      "H syndrome",
      "Faisalabad histiocytosis",
      "HJCD",
      "Rosai-Dorfman disease, familial",
      "SLC29A3 spectrum disorder",
      "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness",
      "histiocytosis with Joint contractures and sensorineural deafness",
      "histiocytosis-lymphadenopathy plus syndrome",
      "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss",
      "pigmented hypertrichosis with insulin-dependent diabetes mellitus",
      "sinus histiocytosis and massive lymphadenopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6195,
      "label": "laryngeal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6623
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:786",
          "EFO:0009673",
          "ICD9:478.70",
          "MEDGEN:7268",
          "MESH:D007818",
          "NCIT:C26810",
          "SCTID:60600009",
          "UMLS:C0023051"
        ],
        "synonyms": [
          "disease of larynx",
          "disease or disorder of larynx",
          "disorder of larynx",
          "disorder of the larynx",
          "laryngeal disease",
          "laryngeal disorder",
          "larynx disease",
          "larynx disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma."
      },
      "child_count": 20,
      "reference_id": "MONDO:0004382"
    },
    {
      "id": 7931,
      "label": "sinus histiocytosis with massive lymphadenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007588",
          "ICD9:277.89",
          "MEDGEN:9266",
          "MESH:D015618",
          "MedDRA:10063397",
          "NANDO:2200039",
          "NCIT:C36075",
          "NORD:1676",
          "ONCOTREE:RDD",
          "Orphanet:158014",
          "SCTID:34287003",
          "UMLS:C0019625",
          "icd11.foundation:1908538383"
        ],
        "synonyms": [
          "Destombes-RosaC/-Dorfman disease",
          "Destombes-Rosaï-Dorfman disease",
          "RDD",
          "RosaC/-Dorfman-Destombes disease",
          "Rosai-Dorfman Disease",
          "Rosai-Dorfman disease",
          "Rosaï-Dorfman-Destombes disease",
          "SHML",
          "sinus histiocytosis with massive lymphadenopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously."
      },
      "child_count": 1,
      "reference_id": "MONDO:0006412"
    },
    {
      "id": 19140,
      "label": "hyperpigmentation of the skin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0000953",
          "ICD9:709.09",
          "MEDGEN:57992",
          "Orphanet:79375",
          "SCTID:49765009",
          "UMLS:C0162834"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0019289"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 6195,
      "label": "laryngeal disorder"
    },
    {
      "id": 7931,
      "label": "sinus histiocytosis with massive lymphadenopathy"
    },
    {
      "id": 19140,
      "label": "hyperpigmentation of the skin"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}