{
  "id": 19135,
  "label": "hypertrichosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019280",
  "properties": {
    "xrefs": [
      "DOID:420",
      "HP:0000998",
      "ICD10WHO:L68",
      "MEDGEN:43787",
      "MESH:D006983",
      "MedDRA:10020864",
      "Orphanet:79365",
      "SCTID:29966009",
      "UMLS:C0020555",
      "icd11.foundation:2042627850"
    ],
    "synonyms": [
      "hypertrichosis",
      "hypertrichosis (disease)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Excessive hair growth anywhere on the body."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 4924,
      "label": "disorder of pilosebaceous unit",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:421",
          "ICD9:704.8",
          "ICD9:704.9",
          "MEDGEN:640417",
          "MESH:D006201",
          "NCIT:C34656",
          "SCTID:201128002",
          "UMLS:C0554472"
        ],
        "synonyms": [
          "disease of pilosebaceous unit",
          "disease or disorder of pilosebaceous unit",
          "disorder of pilosebaceous unit",
          "hair and hair follicle diseases",
          "hair disorder",
          "hair/hair follicle diseases",
          "pilosebaceous unit disease",
          "pilosebaceous unit disease or disorder",
          "hair disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease that involves the pilosebaceous unit."
      },
      "child_count": 9,
      "reference_id": "MONDO:0002917"
    }
  ],
  "children": [
    {
      "id": 3562,
      "label": "hypertrichosis of eyelid",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5315,
        19135
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11669",
          "ICD10CM:H02.86",
          "ICD9:374.54",
          "MEDGEN:509853",
          "SCTID:79830009",
          "UMLS:C0155213",
          "icd11.foundation:1623148241"
        ],
        "synonyms": [
          "eyelid hypertrichosis (disease)",
          "hypertrichosis (disease) of eyelid"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A hypertrichosis (disease) that involves the eyelid."
      },
      "child_count": 2,
      "reference_id": "MONDO:0001334"
    },
    {
      "id": 8978,
      "label": "gingival fibromatosis-hypertrichosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19135,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002324",
          "MEDGEN:342675",
          "MESH:C565016",
          "OMIM:135400",
          "Orphanet:2026",
          "SCTID:716008002",
          "UMLS:C1851120"
        ],
        "synonyms": [
          "CGHT",
          "congenital generalised hypertrichosis terminalis",
          "congenital generalized hypertrichosis terminalis",
          "hirsutism-congenital gingival hyperplasia syndrome",
          "hypertrichosis with or without gingival hyperplasia",
          "hypertrichosis, congenital generalized, with gingival hyperplasia",
          "HTC3",
          "chromosome 17Q24.2-q24.3 Duplication syndrome",
          "chromosome 17Q24.2-q24.3 deletion syndrome",
          "extreme hirsutism with gingival fibromatosis",
          "fibromatosis, gingival, with hypertrichosis",
          "gingival fibromatosis with hypertrichosis",
          "hereditary gingival fibromatosis with hypertrichosis",
          "hypertrichosis terminalis, generalized, with gingival hyperplasia",
          "hypertrichosis terminalis, generalized, with or without gingival hyperplasia",
          "hypertrichosis, congenital generalized, with or without gingival hyperplasia",
          "microdeletion 17Q24.2-q24.3 syndrome",
          "microduplication 17Q24.2-q24.3 syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007610"
    },
    {
      "id": 9048,
      "label": "hypertrichosis cubiti-short stature syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19135,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000143",
          "MEDGEN:870835",
          "MESH:C535618",
          "MedDRA:10068636",
          "OMIM:139600",
          "Orphanet:2220",
          "UMLS:C4025295"
        ],
        "synonyms": [
          "MacDermot-Patton-Williams syndrome",
          "hairy elbows",
          "hairy elbows syndrome",
          "hypertrichosis cubiti"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007693"
    },
    {
      "id": 10159,
      "label": "cataract-hypertrichosis-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19135,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001052",
          "MEDGEN:167117",
          "MESH:C537959",
          "OMIM:211770",
          "Orphanet:1375",
          "SCTID:722379001",
          "UMLS:C0796282"
        ],
        "synonyms": [
          "CAHMR syndrome",
          "cataract, hypertrichosis, intellectual disability syndrome",
          "cataract, hypertrichosis, mental retardation syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008894"
    },
    {
      "id": 10637,
      "label": "cervical hypertrichosis-peripheral neuropathy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19135,
        19709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001226",
          "MEDGEN:341004",
          "MESH:C565492",
          "OMIM:239840",
          "Orphanet:2218",
          "UMLS:C1855902"
        ],
        "synonyms": [
          "cervical hypertrichosis peripheral neuropathy",
          "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009405"
    },
    {
      "id": 11077,
      "label": "Rabson-Mendenhall syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        19135
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000226",
          "ICD9:259.8",
          "MEDGEN:78783",
          "NCIT:C131000",
          "NORD:1645",
          "OMIM:262190",
          "Orphanet:769",
          "SCTID:33559001",
          "UMLS:C0271695",
          "icd11.foundation:1018973126"
        ],
        "synonyms": [
          "Rabson-Mendenhall syndrome",
          "Mendenhall syndrome",
          "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009874"
    },
    {
      "id": 12021,
      "label": "isolated anterior cervical hypertrichosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19135
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008438",
          "MEDGEN:325346",
          "MESH:C538390",
          "OMIM:600457",
          "Orphanet:3387",
          "SCTID:717963001",
          "UMLS:C1838123"
        ],
        "synonyms": [
          "Tsukahara-Kajii syndrome",
          "hairy throat syndrome",
          "Tsukahara Kajii syndrome",
          "anterior cervical hypertrichosis",
          "hairy throat",
          "hypertrichosis, anterior cervical"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010887"
    },
    {
      "id": 16911,
      "label": "acquired hypertrichosis lanuginosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19135
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002864",
          "ICD10CM:L68.1",
          "MEDGEN:87468",
          "Orphanet:2221",
          "SCTID:25967007",
          "UMLS:C0343072",
          "icd11.foundation:1885858920"
        ],
        "synonyms": [
          "hypertrichosis lanuginosa, acquired"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016380"
    },
    {
      "id": 16912,
      "label": "hypertrichosis lanuginosa congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19135,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002865",
          "MEDGEN:66727",
          "MESH:C538389",
          "OMIM:145700",
          "Orphanet:2222",
          "SCTID:201163007",
          "UMLS:C0235864",
          "icd11.foundation:199539869"
        ],
        "synonyms": [
          "hypertrichosis lanuginosa congenita",
          "hypertrichosis universalis",
          "congenital hypertrichosis lanuginosa",
          "hypertrichosis lanuginosa universalis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016381"
    },
    {
      "id": 18738,
      "label": "autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19135
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021953",
          "MEDGEN:1800225",
          "Orphanet:476119",
          "UMLS:C5568802"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018777"
    },
    {
      "id": 19658,
      "label": "hypertrichosis-acromegaloid facial appearance syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16089,
        19135
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000502",
          "Orphanet:966",
          "SCTID:721837000"
        ],
        "synonyms": [
          "haff",
          "hypertrichosis-acromegaloid facial features syndrome",
          "hypertrichosis-coarse face syndrome",
          "acromegaloid facial appearance syndrome and hypertrichosis",
          "acromegaloid hypertrichosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019940"
    }
  ],
  "roots": [
    {
      "id": 4924,
      "label": "disorder of pilosebaceous unit"
    }
  ]
}