{
  "id": 16399,
  "label": "distal monosomy 9p",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015605",
  "properties": {
    "xrefs": [
      "GARD:0018732",
      "MEDGEN:539240",
      "MESH:C538025",
      "Orphanet:1642",
      "SCTID:763530000",
      "UMLS:C0265425"
    ],
    "synonyms": [
      "distal deletion 9p",
      "distal monosomy type 9p",
      "monosomy 9pter",
      "telomeric deletion 9p"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9339,
      "label": "chromosome 9p deletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17299
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060732",
          "GARD:0003773",
          "ICD9:758.39",
          "MEDGEN:167073",
          "MESH:C538024",
          "OMIM:158170",
          "Orphanet:261112",
          "SCTID:62599000",
          "UMLS:C0795830"
        ],
        "synonyms": [
          "9p deletion",
          "9p deletion syndrome",
          "9p monosomy",
          "9p- syndrome",
          "Alfi syndrome",
          "chromosome 9p deletion",
          "deletion 9p",
          "monosomy 9p",
          "monosomy 9p syndrome",
          "monosomy type 9p",
          "partial deletion of chromosome 9p",
          "partial deletion of the short arm of chromosome 9",
          "partial deletion of the short arm of chromosome type 9",
          "partial monosomy 9p",
          "partial monosomy of chromosome 9p",
          "partial monosomy of the short arm of chromosome 9"
        ],
        "definition": "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008013"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008538",
          "MEDGEN:414114",
          "MESH:D058490",
          "NANDO:2200393",
          "NCIT:C127171",
          "Orphanet:98085",
          "SCTID:8234004",
          "UMLS:C2751824"
        ],
        "synonyms": [
          "46,XY DSD",
          "46,XY differences of Sex development",
          "46,XY disorders of Sex development",
          "46, XY DSD",
          "46, XY disorders of sexual development",
          "46, XY female",
          "XY female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Differences of sex development in individuals with 46,XY karyotype."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020040"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9339,
      "label": "chromosome 9p deletion syndrome"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}