{
  "id": 5030,
  "label": "hypotrichosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003037",
  "properties": {
    "xrefs": [
      "DOID:4535",
      "ICD9:704.09",
      "MEDGEN:6993",
      "MESH:D007039",
      "NCIT:C34720",
      "OMIMPS:605389",
      "SCTID:53602002",
      "UMLS:C0020678"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 19,
  "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"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 3563,
      "label": "hypotrichosis of eyelid",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        5315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11671",
          "ICD9:374.55",
          "MEDGEN:509854",
          "SCTID:70738004",
          "UMLS:C0155214"
        ],
        "synonyms": [
          "eyelid hypotrichosis"
        ],
        "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 hypotrichosis that involves the eyelid."
      },
      "child_count": 0,
      "reference_id": "MONDO:0001335"
    },
    {
      "id": 9148,
      "label": "hypotrichosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        19380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110699",
          "GARD:0018093",
          "MEDGEN:374435",
          "MESH:C564143",
          "OMIM:146520",
          "UMLS:C1840299"
        ],
        "synonyms": [
          "CDSN hypotrichosis",
          "HYPT2",
          "hypotrichosis 2",
          "hypotrichosis caused by mutation in CDSN",
          "hypotrichosis simplex of the scalp 1",
          "hypotrichosis type 2",
          "hypt2",
          "Htss",
          "hypotrichosis, Spanish type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007805"
    },
    {
      "id": 11384,
      "label": "hypotrichosis 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        9961,
        18841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110705",
          "GARD:0015247",
          "MEDGEN:481100",
          "MESH:C566950",
          "OMIM:278150",
          "UMLS:C3279470"
        ],
        "synonyms": [
          "HYPT8",
          "LAH3",
          "LPAR6 hypotrichosis",
          "hypotrichosis 8",
          "hypotrichosis caused by mutation in LPAR6",
          "hypotrichosis type 8",
          "hypotrichosis, localized, autosomal recessive 3",
          "woolly hair, autosomal recessive 1, with or without hypotrichosis",
          "wooly hair, autosomal recessive 1, with or without hypotrichosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010206"
    },
    {
      "id": 12233,
      "label": "congenital hypotrichosis with juvenile macular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110711",
          "GARD:0003066",
          "MEDGEN:316921",
          "MESH:C537698",
          "OMIM:601553",
          "Orphanet:1573",
          "UMLS:C1832162"
        ],
        "synonyms": [
          "HJMD",
          "Hjmd",
          "hypotrichosis with cone-rod dystrophy",
          "hypotrichosis with juvenile macular dystrophy",
          "hypotrichosis with juvenile macular degeneration",
          "hypotrichosis, congenital, with juvenile macular dystrophy",
          "juvenile macular degeneration and hypotrichosis",
          "juvenile macular dystrophy and congenital hypotrichosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011107"
    },
    {
      "id": 12556,
      "label": "hypotrichosis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        9961,
        18841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110704",
          "GARD:0008178",
          "MEDGEN:322969",
          "MESH:C536973",
          "OMIM:604379",
          "UMLS:C1836672"
        ],
        "synonyms": [
          "HYPT7",
          "LAH2",
          "LIPH hypotrichosis",
          "Lah2",
          "hypotrichosis 7",
          "hypotrichosis caused by mutation in LIPH",
          "hypotrichosis type 7",
          "hypotrichosis, localized, autosomal recessive 2",
          "total Mari type hypotrichosis,",
          "woolly hair, autosomal recessive 2 with or without hypotrichosis",
          "wooly hair, autosomal recessive 2 with or without hypotrichosis",
          "Mari type alopecia universalis congenita",
          "Wh/Ht",
          "alopecia universalis congenita, Mari type",
          "hypotrichosis, autosomal recessive",
          "hypotrichosis, total, Mari type",
          "total hypotrichosis, Mari type",
          "woolly hair, autosomal recessive 2, with or without hypotrichosis",
          "wooly hair, autosomal recessive 2, with or without hypotrichosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011452"
    },
    {
      "id": 12646,
      "label": "hypotrichosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        18841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110698",
          "GARD:0024806",
          "MEDGEN:1644234",
          "OMIM:605389",
          "UMLS:C4551976"
        ],
        "synonyms": [
          "HHS",
          "APCDD1 hypotrichosis",
          "HTS",
          "HYPT1",
          "hereditary generalised hypotrichosis simplex",
          "hypotrichosis 1",
          "hypotrichosis caused by mutation in APCDD1",
          "hypotrichosis type 1",
          "hypotrichosis simplex, generalized, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011549"
    },
    {
      "id": 13006,
      "label": "hypotrichosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        18841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110703",
          "GARD:0015423",
          "MEDGEN:335812",
          "MESH:C564312",
          "OMIM:607903",
          "UMLS:C1842839"
        ],
        "synonyms": [
          "DSG4 hypotrichosis",
          "HYPT6",
          "LAH1",
          "Lah1",
          "autosomal recessive localised hypotrichosis",
          "hypotrichosis 6",
          "hypotrichosis caused by mutation in DSG4",
          "hypotrichosis type 6",
          "hypotrichosis, localized, autosomal recessive 1",
          "monilethrix-like hypotrichosis",
          "Htl",
          "hypotrichosis, localized, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011932"
    },
    {
      "id": 14544,
      "label": "hypotrichosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        19380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110700",
          "GARD:0018094",
          "MEDGEN:462782",
          "OMIM:613981",
          "UMLS:C3151432"
        ],
        "synonyms": [
          "HTSS2",
          "HYPT3",
          "Htss2",
          "KRT74 hypotrichosis",
          "hypotrichosis 3",
          "hypotrichosis caused by mutation in KRT74",
          "hypotrichosis simplex of the scalp 2",
          "hypotrichosis type 3",
          "hypt3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013514"
    },
    {
      "id": 14673,
      "label": "hypotrichosis 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        18841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110706",
          "GARD:0015781",
          "MEDGEN:481882",
          "OMIM:614237",
          "UMLS:C3280252"
        ],
        "synonyms": [
          "HYPT9",
          "hypotrichosis 9",
          "hypotrichosis type 9",
          "hypt9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013649"
    },
    {
      "id": 14674,
      "label": "hypotrichosis 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        18841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110707",
          "GARD:0015782",
          "MEDGEN:481883",
          "OMIM:614238",
          "UMLS:C3280253"
        ],
        "synonyms": [
          "HYPT10",
          "hypotrichosis 10",
          "hypotrichosis type 10",
          "hypt10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013650"
    },
    {
      "id": 15037,
      "label": "hypotrichosis 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        18841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110708",
          "GARD:0015900",
          "MEDGEN:767323",
          "OMIM:615059",
          "UMLS:C3554409"
        ],
        "synonyms": [
          "HYPT11",
          "SNRPE hypotrichosis",
          "hypotrichosis 11",
          "hypotrichosis caused by mutation in SNRPE",
          "hypotrichosis type 11",
          "hypt11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014027"
    },
    {
      "id": 15386,
      "label": "hypotrichosis 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        18841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110709",
          "GARD:0016027",
          "MEDGEN:863000",
          "OMIM:615885",
          "UMLS:C4014563"
        ],
        "synonyms": [
          "HYPT12",
          "RPL21 hypotrichosis",
          "hypotrichosis 12",
          "hypotrichosis caused by mutation in RPL21",
          "hypotrichosis type 12",
          "hypt12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014384"
    },
    {
      "id": 15392,
      "label": "hypotrichosis 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030,
        9961
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110710",
          "GARD:0016029",
          "MEDGEN:863053",
          "OMIM:615896",
          "UMLS:C4014616"
        ],
        "synonyms": [
          "HYPT13",
          "KRT71 hypotrichosis",
          "hypotrichosis 13",
          "hypotrichosis caused by mutation in KRT71",
          "hypotrichosis type 13",
          "hypotrichosis with woolly hair",
          "hypotrichosis with wooly hair",
          "hypt13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014390"
    },
    {
      "id": 18628,
      "label": "Marie Unna hereditary hypotrichosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5030
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003390",
          "MEDGEN:419706",
          "MESH:C535912",
          "Orphanet:444",
          "UMLS:C2931059"
        ],
        "synonyms": [
          "HR hypotrichosis",
          "MUHH",
          "Marie Unna congenital hypotrichosis",
          "hypotrichosis caused by mutation in HR",
          "hypotrichosis, Marie Unna type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018631"
    },
    {
      "id": 20799,
      "label": "Basaran Yilmaz syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4897,
        5030
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:419444",
          "MESH:C537660",
          "UMLS:C2931577"
        ],
        "synonyms": [
          "keratoderma, hypotrichosis and leukonychia totalis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021979"
    },
    {
      "id": 21018,
      "label": "congenital hypotrichosis milia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022841"
    },
    {
      "id": 22330,
      "label": "hypotrichosis 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080582",
          "GARD:0016335",
          "MEDGEN:1648477",
          "OMIM:618275",
          "UMLS:C4748930"
        ],
        "synonyms": [
          "HYPOTRICHOSIS 14",
          "HYPT14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032649"
    },
    {
      "id": 25473,
      "label": "hypotrichosis 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060968",
          "MEDGEN:1824052",
          "OMIM:620177",
          "UMLS:C5774279"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859341"
    },
    {
      "id": 26400,
      "label": "hypotrichosis 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5030
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621490"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980972"
    }
  ],
  "roots": [
    {
      "id": 4924,
      "label": "disorder of pilosebaceous unit"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}