{
  "id": 13834,
  "label": "ANE syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012794",
  "properties": {
    "xrefs": [
      "DOID:0112244",
      "GARD:0016987",
      "MEDGEN:394313",
      "MESH:C567425",
      "OMIM:612079",
      "Orphanet:157954",
      "UMLS:C2677535"
    ],
    "synonyms": [
      "ANE syndrome",
      "alopecia-progressive neurological defect-endocrinopathy syndrome",
      "alopecia, neurologic defects, and endocrinopathy syndrome",
      "anes"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4198,
      "label": "integumentary system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:16",
          "EFO:0010285",
          "MEDGEN:712400",
          "SCTID:128598002",
          "UMLS:C1290011"
        ],
        "synonyms": [
          "disease of integumental system",
          "disease or disorder of integumental system",
          "disorder of integumental system",
          "integumental system disease",
          "integumental system disease or disorder",
          "integumentary disease",
          "disorder of integument"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the integumental system."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002051"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18569,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020135",
          "MEDGEN:859097",
          "NANDO:1200383",
          "NCIT:C120162",
          "Orphanet:174590",
          "SCTID:722944006",
          "UMLS:C3899503",
          "icd11.foundation:1752075408"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."
      },
      "child_count": 50,
      "reference_id": "MONDO:0015770"
    },
    {
      "id": 18727,
      "label": "non-acquired combined pituitary hormone deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002252",
          "MEDGEN:1842250",
          "NANDO:2200312",
          "Orphanet:467",
          "UMLS:C5680091"
        ],
        "synonyms": [
          "congenital combined pituitary hormone deficiency",
          "congenital hypopituitarism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis."
      },
      "child_count": 7,
      "reference_id": "MONDO:0018762"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4198,
      "label": "integumentary system disorder"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism"
    },
    {
      "id": 18727,
      "label": "non-acquired combined pituitary hormone deficiency"
    }
  ]
}