{
  "id": 19143,
  "label": "mixed dermis disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019294",
  "properties": {
    "xrefs": [
      "MEDGEN:1842502",
      "Orphanet:79380",
      "UMLS:C5681484"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 20387,
      "label": "dermis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1843083",
          "Orphanet:79381",
          "UMLS:C5681483"
        ],
        "synonyms": [
          "dermis disease",
          "dermis disease or disorder",
          "disease of dermis",
          "disease or disorder of dermis",
          "disorder of dermis",
          "other dermis disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease that involves the dermis."
      },
      "child_count": 28,
      "reference_id": "MONDO:0021154"
    }
  ],
  "children": [
    {
      "id": 8554,
      "label": "aplasia cutis congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19143,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080661",
          "GARD:0005835",
          "HP:0001057",
          "ICD9:757.39",
          "MEDGEN:79390",
          "NCIT:C98822",
          "NORD:794",
          "OMIM:107600",
          "Orphanet:1114",
          "SCTID:35484002",
          "UMLS:C0282160",
          "icd11.foundation:350175828"
        ],
        "synonyms": [
          "aplasia cutis congenita",
          "aplasia cutis congenita (disease)",
          "aplasia cutis congenita recessive",
          "ACC",
          "aplasia cutis congenita nonsyndromic",
          "aplasia cutis congenita, nonsyndromic",
          "congenital defect of skull and scalp",
          "scalp defect congenital",
          "scalp defect, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007145"
    },
    {
      "id": 9702,
      "label": "scalp defects-postaxial polydactyly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6893,
        18956,
        19143,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000241",
          "MEDGEN:401140",
          "MESH:C536622",
          "OMIM:181250",
          "Orphanet:1003",
          "UMLS:C1867021"
        ],
        "synonyms": [
          "congenital scalp defects associated with postaxial polydactyly",
          "scalp defects and postaxial polydactyly",
          "scalp defects postaxial polydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008403"
    },
    {
      "id": 9703,
      "label": "scalp-ear-nipple syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16089,
        19138,
        19143
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111550",
          "GARD:0000159",
          "MEDGEN:357183",
          "MESH:C536623",
          "OMIM:181270",
          "Orphanet:2036",
          "SCTID:721888002",
          "UMLS:C1867020",
          "icd11.foundation:88843032"
        ],
        "synonyms": [
          "Finlay-Marks syndrome",
          "scalp-ear-nipple syndrome",
          "SENS",
          "Sen syndrome",
          "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples",
          "scalp ear nipple syndrome",
          "scalp-EAR-nipple syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008404"
    },
    {
      "id": 10076,
      "label": "aplasia cutis congenita-intestinal lymphangiectasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6756,
        19049,
        19143
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000753",
          "MEDGEN:349241",
          "MESH:C537788",
          "OMIM:207731",
          "Orphanet:1116",
          "SCTID:720500008",
          "UMLS:C1859753"
        ],
        "synonyms": [
          "Bronspiegel-Zelnick syndrome",
          "autosomal recessive aplasia cutis",
          "ACC with intestinal lymphangiectasia",
          "aplasia cutis congenita intestinal lymphangiectasia",
          "aplasia cutis congenita with intestinal lymphangiectasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008808"
    },
    {
      "id": 11817,
      "label": "linear skin defects with multiple congenital anomalies",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16704,
        19143,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111875",
          "GARD:0003659",
          "MESH:C537466",
          "OMIMPS:309801",
          "Orphanet:2556",
          "SCTID:721879006"
        ],
        "synonyms": [
          "MCOPS7",
          "MIDAS syndrome",
          "MLS syndrome",
          "linear skin defects with multiple congenital anomalies",
          "linear skin defects with multiple congenital anomalies type 1",
          "microphthalmia with linear skin defects syndrome",
          "microphthalmia-dermal aplasia-sclerocornea syndrome",
          "syndromic microphthalmia type 7",
          "LSDMCA1",
          "Micropthalmia syndromic 7",
          "linear skin defects with multiple congenital anomalies 1",
          "microphthalmia dermal aplasia and sclerocornea syndrome"
        ],
        "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 genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms."
      },
      "child_count": 9,
      "reference_id": "MONDO:0010672"
    },
    {
      "id": 12010,
      "label": "recessive aplasia cutis congenita of limbs",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19143
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000754",
          "MEDGEN:324970",
          "MESH:C536840",
          "OMIM:600360",
          "Orphanet:1115",
          "SCTID:723500009",
          "UMLS:C1838206"
        ],
        "synonyms": [
          "aplasia cutis congenita of limbs recessive",
          "aplasia cutis congenita of limbs, autosomal recessive",
          "congenital absence of skin on the upper or lower limbs",
          "recessive aplasia cutis congenita of the limbs"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010876"
    }
  ],
  "roots": [
    {
      "id": 20387,
      "label": "dermis disorder"
    }
  ]
}