{
  "id": 19141,
  "label": "hypopigmentation of the skin",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019290",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 19139,
      "label": "skin pigmentation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10123",
          "ICD9:709.09",
          "MEDGEN:316465",
          "MESH:D010859",
          "NCIT:C34557",
          "Orphanet:79374",
          "UMLS:C1704421"
        ],
        "synonyms": [
          "pigmentation anomaly of the skin",
          "pigmentation disease of zone of skin",
          "zone of skin pigmentation disease",
          "pigmentation disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A pigmentation disease that involves the zone of skin."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019288"
    }
  ],
  "children": [
    {
      "id": 8491,
      "label": "Tietz syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        19141,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090002",
          "GARD:0007772",
          "ICD9:270.2",
          "MEDGEN:98213",
          "MESH:C536919",
          "OMIM:103500",
          "Orphanet:42665",
          "SCTID:403805009",
          "UMLS:C0391816"
        ],
        "synonyms": [
          "Tietz albinism-deafness syndrome",
          "Tietz syndrome",
          "albinism-deafness of Tietz",
          "hypopigmentation-deafness syndrome",
          "hypopigmentation/deafness of Tietz",
          "TADS"
        ],
        "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": "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007077"
    },
    {
      "id": 9551,
      "label": "piebaldism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        7019,
        19141,
        20691,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3263",
          "GARD:0004344",
          "ICD9:270.2",
          "MEDGEN:36361",
          "MESH:D016116",
          "NCIT:C85009",
          "OMIM:172800",
          "Orphanet:2884",
          "SCTID:6479008",
          "UMLS:C0080024",
          "icd11.foundation:2089421143"
        ],
        "synonyms": [
          "piebald trait",
          "piebaldism",
          "PBT"
        ],
        "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": "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008244"
    },
    {
      "id": 9552,
      "label": "piebald trait-neurologic defects syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005133",
          "MEDGEN:358177",
          "MESH:C536955",
          "OMIM:172850",
          "Orphanet:2885",
          "UMLS:C1868311"
        ],
        "synonyms": [
          "telfer-Sugar-Jaeger syndrome",
          "White forelock and leukoderma with neurological impairment",
          "piebald trait neurologic defects",
          "piebald trait with neurologic defects",
          "telfer Sugar Jaeger syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008245"
    },
    {
      "id": 10329,
      "label": "deafness, congenital, with total albinism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19141,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024647",
          "MEDGEN:387799",
          "MESH:C565646",
          "OMIM:220900",
          "UMLS:C1857343"
        ],
        "synonyms": [
          "deafness, congenital, with total albinism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009081"
    },
    {
      "id": 11473,
      "label": "Ito hypomelanosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        19138,
        19141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3156",
          "GARD:0002992",
          "MEDGEN:5920",
          "NORD:1274",
          "OMIM:300337",
          "Orphanet:435",
          "UMLS:C0022283"
        ],
        "synonyms": [
          "Hypomelanosis of Ito",
          "Incontinentia pigmenti type 1",
          "Ito hypomelanosis",
          "hi syndrome",
          "hypomelanosis of Ito",
          "pigmentary mosaicism, Ito type",
          "HMI",
          "IPA",
          "Incontinentia pigmenti achromians",
          "Incontinentia pigmenti type 1 (formerly)",
          "Incontinentia pigmenti, type I",
          "Incontinentia pigmenti, type I, formerly",
          "Ito"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010302"
    },
    {
      "id": 11564,
      "label": "albinism-hearing loss syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19141,
        23164,
        23867
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010403"
    },
    {
      "id": 12256,
      "label": "deaf blind hypopigmentation syndrome, Yemenite type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005535",
          "MEDGEN:355712",
          "MESH:C536771",
          "OMIM:601706",
          "Orphanet:3214",
          "SCTID:721084001",
          "UMLS:C1866425",
          "icd11.foundation:2090985024"
        ],
        "synonyms": [
          "Warburg-Thomsen syndrome",
          "Yemenite deaf-blind hypopigmentation syndrome",
          "Warburg Thomsen syndrome",
          "Yemenite (Warburg) deaf-blind hypopigmentation syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011133"
    },
    {
      "id": 17626,
      "label": "syndromic oculocutaneous albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18283,
        19141,
        23867
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017305"
    },
    {
      "id": 18837,
      "label": "oculocutaneous albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18283,
        19141,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050632",
          "GARD:0010958",
          "ICD10CM:E70.32",
          "ICD9:270.2",
          "MEDGEN:36250",
          "MESH:D016115",
          "NANDO:1200637",
          "NANDO:1200641",
          "NANDO:2200986",
          "NCIT:C84941",
          "NORD:1522",
          "OMIMPS:203100",
          "Orphanet:55",
          "SCTID:63844009",
          "UMLS:C0078918",
          "icd11.foundation:1189424097"
        ],
        "synonyms": [
          "OCA",
          "non-syndromic oculocutaneous albinism",
          "nonsyndromic oculocutaneous albinism",
          "albinism, oculocutaneous"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7."
      },
      "child_count": 27,
      "reference_id": "MONDO:0018910"
    },
    {
      "id": 22802,
      "label": "linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19138,
        19141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022358",
          "MEDGEN:1806249",
          "Orphanet:589608",
          "UMLS:C5680313"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035124"
    }
  ],
  "roots": [
    {
      "id": 19139,
      "label": "skin pigmentation disorder"
    }
  ]
}