{
  "id": 11564,
  "label": "albinism-hearing loss syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010403",
  "properties": {
    "xrefs": [
      "GARD:0000589",
      "MEDGEN:375573",
      "MESH:C537042",
      "OMIM:300700",
      "Orphanet:998",
      "SCTID:722285005",
      "SCTID:74320008",
      "UMLS:C1845068"
    ],
    "synonyms": [
      "Woolf's syndrome",
      "Ziprkowski–Margolis syndrome",
      "albinism deafness syndrome",
      "albinism-deafness syndrome",
      "ADFN",
      "ALDS",
      "Woolf syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 23164,
      "label": "albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:E70.3",
          "MEDGEN:182",
          "MESH:D000417",
          "NCIT:C84543",
          "SCTID:15890002",
          "UMLS:C0001916"
        ],
        "synonyms": [
          "albinism"
        ],
        "definition": "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin."
      },
      "child_count": 2,
      "reference_id": "MONDO:0043209"
    },
    {
      "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": 19141,
      "label": "hypopigmentation of the skin"
    },
    {
      "id": 23164,
      "label": "albinism"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}