{
  "id": 19731,
  "label": "hereditary lipodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020087",
  "properties": {
    "xrefs": [
      "GARD:0012597",
      "MEDGEN:1383706",
      "Orphanet:98305",
      "SCTID:724841000",
      "UMLS:C4511302",
      "icd11.foundation:1166232738"
    ],
    "synonyms": [
      "genetic lipodystrophy",
      "genetic lipodystrophy (disease)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "An instance of lipodystrophy that is caused by an inherited genomic modification in an individual."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 8053,
      "label": "lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:811",
          "EFO:1000727",
          "GARD:0027051",
          "HP:0009125",
          "ICD9:272.6",
          "MEDGEN:6111",
          "MESH:D008060",
          "NANDO:1200858",
          "NANDO:2100147",
          "NANDO:2200404",
          "NCIT:C97093",
          "SCTID:71325002",
          "UMLS:C0023787",
          "Wikipedia:Lipodystrophy"
        ],
        "synonyms": [
          "lipodsystrophic syndrome",
          "lipodsystrophic syndromes",
          "lipodystrophy",
          "lipodystrophy (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body."
      },
      "child_count": 10,
      "reference_id": "MONDO:0006573"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "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": [
    {
      "id": 8021,
      "label": "congenital generalized lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19731,
        21769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050585",
          "EFO:1000681",
          "GARD:0024436",
          "HP:0009059",
          "MEDGEN:67438",
          "NANDO:1200859",
          "NORD:998",
          "OMIMPS:608594",
          "SCTID:284449005",
          "UMLS:C0221032"
        ],
        "synonyms": [
          "congenital generalised lipodystrophy (disease)",
          "congenital generalized lipodystrophy",
          "congenital generalized lipodystrophy (disease)",
          "familial generalised lipodystrophy",
          "familial generalized lipodystrophy",
          "hereditary generalised lipodystrophy",
          "hereditary generalized lipodystrophy",
          "lipodystrophy, congenital generalised",
          "lipodystrophy, congenital generalized"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues."
      },
      "child_count": 10,
      "reference_id": "MONDO:0006536"
    },
    {
      "id": 10550,
      "label": "lipodystrophy due to peptidic growth factors deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19731
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012604",
          "MEDGEN:419375",
          "MESH:C565529",
          "OMIM:233805",
          "Orphanet:1979",
          "SCTID:724176001",
          "UMLS:C2931279",
          "icd11.foundation:1235390174"
        ],
        "synonyms": [
          "Hoepffner-Dreyer-Reimers syndrome",
          "Werner-like syndrome due to combined growth factor deficiency",
          "combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency",
          "Hoepffner Dreyer Reimers syndrome",
          "Werner-like syndrome due to combined Growth Factor deficiency",
          "growth factors, combined defect OF",
          "insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency",
          "peptide growth factors deficiency",
          "peptidic growth factors deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009312"
    },
    {
      "id": 11113,
      "label": "Wiedemann-Rautenstrauch syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16087,
        16198,
        16199,
        19731,
        24671,
        24803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081333",
          "GARD:0000330",
          "ICD9:259.8",
          "MEDGEN:140806",
          "MESH:C536423",
          "NCIT:C121565",
          "NORD:1852",
          "OMIM:264090",
          "Orphanet:3455",
          "SCTID:238874008",
          "UMLS:C0406586"
        ],
        "synonyms": [
          "Wiedemann Rautenstrauch Syndrome",
          "Wiedemann-Rautenstrauch syndrome",
          "neonatal progeroid syndrome",
          "Wiedemann Rautenstrauch syndrome",
          "progeroid syndrome neonatal",
          "progeroid syndrome, neonatal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009910"
    },
    {
      "id": 11220,
      "label": "SHORT syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7019,
        16088,
        16089,
        16198,
        19731,
        29311
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111454",
          "GARD:0007633",
          "MEDGEN:164212",
          "MESH:C537327",
          "NORD:1710",
          "OMIM:269880",
          "Orphanet:3163",
          "UMLS:C0878684",
          "icd11.foundation:1264512044"
        ],
        "synonyms": [
          "Aarskog-Ose-Pande syndrome",
          "Rieger anomaly-partial lipodystrophy syndrome",
          "SHORT syndrome",
          "lipodystrophy-Rieger anomaly-diabetes syndrome",
          "short syndrome",
          "lipodystrophy, partial, with Rieger anomaly and short stature",
          "partial lipodystrophy with Rieger anomaly and short stature",
          "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay",
          "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay"
        ],
        "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": "A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010026"
    },
    {
      "id": 13047,
      "label": "lipodystrophy-intellectual disability-deafness syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19731
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016646",
          "MEDGEN:334166",
          "MESH:C564283",
          "OMIM:608154",
          "Orphanet:50811",
          "SCTID:721973006",
          "UMLS:C1842465"
        ],
        "synonyms": [
          "Rajab-Spranger syndrome",
          "lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones",
          "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011976"
    },
    {
      "id": 14600,
      "label": "Keppen-Lubinsky syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19731
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017716",
          "MEDGEN:481430",
          "OMIM:614098",
          "Orphanet:435628",
          "UMLS:C3279800"
        ],
        "synonyms": [
          "Keppen-Lubinsky syndrome",
          "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome",
          "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome",
          "KEPPEN-Lubinsky syndrome",
          "KPLBS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013572"
    },
    {
      "id": 15404,
      "label": "severe neurodegenerative syndrome with lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19731,
        21292,
        23939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017552",
          "MEDGEN:863137",
          "OMIM:615924",
          "Orphanet:363400",
          "UMLS:C4014700"
        ],
        "synonyms": [
          "severe neurodegenerative syndrome due to BSCL2 deficiency",
          "PELD",
          "encephalopathy, progressive, with or without lipodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014402"
    },
    {
      "id": 16325,
      "label": "lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19731
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009990",
          "Orphanet:156156"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015493"
    },
    {
      "id": 17075,
      "label": "mandibuloacral dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16089,
        16198,
        19478,
        19731
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081127",
          "GARD:0011893",
          "MEDGEN:98485",
          "NORD:1398",
          "OMIMPS:248370",
          "Orphanet:2457",
          "UMLS:C0432291",
          "icd11.foundation:1687046570"
        ],
        "synonyms": [
          "MAD",
          "mandibuloacral dysplasia with lipodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016584"
    },
    {
      "id": 18814,
      "label": "Berardinelli-Seip congenital lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19731,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013388",
          "ICD9:250.80",
          "MedDRA:10024603",
          "NANDO:1200859",
          "NANDO:2200465",
          "NCIT:C84594",
          "Orphanet:528",
          "icd11.foundation:1628738474",
          "icd11.foundation:641763399"
        ],
        "synonyms": [
          "BSCL",
          "Beradinelli-Seip syndrome",
          "Berardinelli Seip syndrome",
          "Berardinelli lipodystrophy syndrome",
          "Brunzell syndrome",
          "GCL",
          "Seip-Bernardinelli syndrome",
          "generalised congenital lipodystrophy",
          "generalized congenital lipodystrophy",
          "total lipodystrophy",
          "Lawrence-Seip syndrome",
          "congenital generalised lipodystrophy",
          "congenital generalized lipodystrophy",
          "lipoatrophic diabetes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018883"
    },
    {
      "id": 19732,
      "label": "familial partial lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19731,
        20345,
        21770
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050440",
          "GARD:0011962",
          "MEDGEN:124408",
          "MESH:D052496",
          "NANDO:1200861",
          "NCIT:C84708",
          "NORD:1131",
          "OMIMPS:151660",
          "Orphanet:98306",
          "SCTID:49292002",
          "UMLS:C0271694",
          "icd11.foundation:1661968243"
        ],
        "synonyms": [
          "FPLD",
          "congenital partial lipodystrophy",
          "genetic partial lipodystrophy",
          "lipodystrophy, familial partial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis."
      },
      "child_count": 30,
      "reference_id": "MONDO:0020088"
    }
  ],
  "roots": [
    {
      "id": 8053,
      "label": "lipodystrophy"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}