{
  "id": 11817,
  "label": "linear skin defects with multiple congenital anomalies",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010672",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080636",
          "GARD:0020342",
          "MEDGEN:1826052",
          "OMIMPS:309800",
          "Orphanet:202948",
          "UMLS:C5679782"
        ],
        "synonyms": [
          "microphthalmia, syndromic",
          "syndrome associated with microphthalmia",
          "syndromic microphthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that is part of a larger syndrome."
      },
      "child_count": 57,
      "reference_id": "MONDO:0016073"
    },
    {
      "id": 19143,
      "label": "mixed dermis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20387
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842502",
          "Orphanet:79380",
          "UMLS:C5681484"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019294"
    },
    {
      "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": 11632,
      "label": "linear skin defects with multiple congenital anomalies 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11817
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111877",
          "GARD:0015272",
          "MEDGEN:763835",
          "OMIM:300887",
          "UMLS:C3550921"
        ],
        "synonyms": [
          "COX7B microphthalmia with linear skin defects syndrome",
          "linear skin defects with multiple congenital anomalies 2",
          "linear skin defects with multiple congenital anomalies 2, X-linked dominant",
          "linear skin defects with multiple congenital anomalies type 2",
          "microphthalmia with linear skin defects syndrome caused by mutation in COX7B",
          "LSDMCA2",
          "aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies"
        ],
        "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": "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010474"
    },
    {
      "id": 11652,
      "label": "linear skin defects with multiple congenital anomalies 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11817,
        29254
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111876",
          "GARD:0015276",
          "MEDGEN:906997",
          "OMIM:300952",
          "UMLS:C4225421"
        ],
        "synonyms": [
          "NDUFB11 microphthalmia with linear skin defects syndrome",
          "linear skin defects with multiple congenital anomalies 3",
          "linear skin defects with multiple congenital anomalies 3, X-linked dominant",
          "linear skin defects with multiple congenital anomalies type 3",
          "microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11",
          "LSDMCA3",
          "linear skin defects with cardiomyopathy and Other congenital anomalies"
        ],
        "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": "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010494"
    },
    {
      "id": 21497,
      "label": "linear skin defects with multiple congenital anomalies 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11817
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111808",
          "GARD:0025427",
          "MEDGEN:163210",
          "OMIM:309801",
          "UMLS:C0796070"
        ],
        "synonyms": [
          "HCCS microphthalmia with linear skin defects syndrome",
          "linear skin defects with multiple congenital anomalies 1",
          "linear skin defects with multiple congenital anomalies 1, X-linked dominant",
          "microphthalmia with linear skin defects syndrome caused by mutation in HCCS",
          "LSDMCA1",
          "Midas syndrome",
          "microphthalmia with linear skin defects",
          "microphthalmia, dermal aplasia, and sclerocornea",
          "microphthalmia, syndromic 7"
        ],
        "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": "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024552"
    }
  ],
  "roots": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia"
    },
    {
      "id": 19143,
      "label": "mixed dermis disorder"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}