{
  "id": 12975,
  "label": "Noonan syndrome-like disorder with loose anagen hair",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011899",
  "properties": {
    "xrefs": [
      "DOID:0080691",
      "GARD:0010719",
      "MEDGEN:334697",
      "MESH:C564342",
      "NCIT:C178129",
      "OMIMPS:607721",
      "Orphanet:2701",
      "SCTID:723444009",
      "UMLS:C1843181"
    ],
    "synonyms": [
      "NS/LAH",
      "Noonan syndrome-like disorder with loose anagen hair",
      "Tosti syndrome",
      "NSLH",
      "NSLH1",
      "Noonan syndrome-like disorder with loose anagen hair 1",
      "Noonan-like syndrome with loose anagen hair"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 12041,
      "label": "loose anagen syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6660,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111702",
          "GARD:0003287",
          "ICD9:704.8",
          "MEDGEN:98351",
          "MESH:D058247",
          "OMIM:600628",
          "Orphanet:168",
          "SCTID:238735005",
          "UMLS:C0406468",
          "icd11.foundation:547259783"
        ],
        "synonyms": [
          "loose anagen hair syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010908"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 19780,
      "label": "Noonan syndrome and Noonan-related syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20302,
        20383,
        21518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019561",
          "MEDGEN:1826127",
          "MESH:C537846",
          "Orphanet:98733",
          "UMLS:C5681679"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0020297"
    }
  ],
  "children": [
    {
      "id": 23567,
      "label": "Noonan syndrome-like disorder with loose anagen hair 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12975
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080693",
          "GARD:0025953",
          "MEDGEN:1376945",
          "NCIT:C176940",
          "OMIM:617506",
          "UMLS:C4479577"
        ],
        "synonyms": [
          "Noonan syndrome-like disorder with loose anagen hair 2",
          "NSLH2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054588"
    },
    {
      "id": 23574,
      "label": "Noonan syndrome-like disorder with loose anagen hair 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12975
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080692",
          "GARD:0025955",
          "MEDGEN:1379805",
          "NCIT:C176939",
          "OMIM:607721",
          "UMLS:C4478716"
        ],
        "synonyms": [
          "NSLH",
          "NSLH1",
          "Noonan syndrome-like disorder with loose anagen hair 1",
          "Noonan syndrome-like with loose anagen hair 1",
          "Tosti syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054637"
    }
  ],
  "roots": [
    {
      "id": 12041,
      "label": "loose anagen syndrome"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 19780,
      "label": "Noonan syndrome and Noonan-related syndrome"
    }
  ]
}