{
  "id": 16852,
  "label": "holoprosencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016296",
  "properties": {
    "xrefs": [
      "DOID:4621",
      "GARD:0006665",
      "ICD10CM:Q04.2",
      "MEDGEN:38214",
      "MESH:D016142",
      "MedDRA:10056304",
      "NANDO:2200819",
      "NCIT:C74988",
      "NORD:1247",
      "OMIMPS:236100",
      "Orphanet:2162",
      "SCTID:30915001",
      "UMLS:C0079541",
      "icd11.foundation:1712699129"
    ],
    "synonyms": [
      "HPE",
      "holoprosencephaly sequence"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 17,
  "parents": [
    {
      "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": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9085,
      "label": "holoprosencephaly 3",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110875",
          "GARD:0024572",
          "MEDGEN:327125",
          "MESH:C564181",
          "OMIM:142945",
          "UMLS:C1840529"
        ],
        "synonyms": [
          "HLP3",
          "HPE3",
          "SHH holoprosencephaly",
          "Shh holoprosencephaly",
          "holoprosencephaly 3",
          "holoprosencephaly caused by mutation in SHH",
          "holoprosencephaly caused by mutation in Shh",
          "holoprosencephaly type 3",
          "Hlp3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0007733"
    },
    {
      "id": 9086,
      "label": "holoprosencephaly 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110880",
          "GARD:0024573",
          "MEDGEN:374488",
          "MESH:C564180",
          "NCIT:C75475",
          "OMIM:142946",
          "UMLS:C1840528"
        ],
        "synonyms": [
          "HPE4",
          "TGIF1 holoprosencephaly",
          "holoprosencephaly 4",
          "holoprosencephaly caused by mutation in TGIF1",
          "holoprosencephaly type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007734"
    },
    {
      "id": 9325,
      "label": "holoprosencephaly 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110872",
          "GARD:0024593",
          "MEDGEN:322517",
          "MESH:C563579",
          "NCIT:C74995",
          "OMIM:157170",
          "UMLS:C1834877"
        ],
        "synonyms": [
          "HPE2",
          "SIX3 holoprosencephaly",
          "holoprosencephaly 2",
          "holoprosencephaly caused by mutation in SIX3",
          "holoprosencephaly type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007999"
    },
    {
      "id": 10581,
      "label": "holoprosencephaly 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110881",
          "GARD:0024660",
          "MEDGEN:78617",
          "NCIT:C75476",
          "OMIM:236100",
          "UMLS:C0266667"
        ],
        "synonyms": [
          "Hpe, familial",
          "cyclopia",
          "HPE1",
          "holoprosencephaly 1",
          "holoprosencephaly 1, isolated cases",
          "holoprosencephaly type 1",
          "Demyer sequence",
          "arhinencephaly",
          "holoprosencephaly, familial Alobar",
          "isolated arhinencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009349"
    },
    {
      "id": 12712,
      "label": "holoprosencephaly 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110874",
          "GARD:0024813",
          "MEDGEN:342979",
          "MESH:C565274",
          "OMIM:605934",
          "UMLS:C1853830"
        ],
        "synonyms": [
          "HPE6",
          "holoprosencephaly 6",
          "holoprosencephaly type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011616"
    },
    {
      "id": 13326,
      "label": "holoprosencephaly 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110879",
          "GARD:0024857",
          "MEDGEN:322873",
          "MESH:C563723",
          "OMIM:609408",
          "UMLS:C1836254"
        ],
        "synonyms": [
          "HPE8",
          "holoprosencephaly 8",
          "holoprosencephaly type 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A holoprosencephaly that has material basis in variation in the chromosome region 14q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012267"
    },
    {
      "id": 13609,
      "label": "holoprosencephaly 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110876",
          "GARD:0024874",
          "MEDGEN:372134",
          "MESH:C563660",
          "OMIM:610828",
          "UMLS:C1835820"
        ],
        "synonyms": [
          "HPE7",
          "PTCH1 holoprosencephaly",
          "holoprosencephaly 7",
          "holoprosencephaly caused by mutation in PTCH1",
          "holoprosencephaly type 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012562"
    },
    {
      "id": 13967,
      "label": "chromosome 1q41-q42 deletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852,
        20967
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060412",
          "GARD:0003738",
          "MEDGEN:382704",
          "OMIM:612530",
          "Orphanet:250999",
          "SCTID:716515000",
          "UMLS:C2675857"
        ],
        "synonyms": [
          "1q41q42 microdeletion syndrome",
          "Del(1)(q41q42)",
          "chromosome 1q41-q42 deletion syndrome",
          "chromosome 1q41-q42 deletion syndrome, isolated cases",
          "monosomy 1q41-q42",
          "monosomy 1q41q42",
          "1q41-q42 deletion syndrome",
          "deletion 1q41-q42",
          "holoprosencephaly 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012927"
    },
    {
      "id": 14667,
      "label": "holoprosencephaly 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110877",
          "GARD:0024938",
          "MEDGEN:481845",
          "OMIM:614226",
          "UMLS:C3280215"
        ],
        "synonyms": [
          "CDON holoprosencephaly",
          "HPE11",
          "holoprosencephaly 11",
          "holoprosencephaly caused by mutation in CDON",
          "holoprosencephaly type 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013642"
    },
    {
      "id": 17558,
      "label": "microform holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111380",
          "GARD:0017290",
          "MEDGEN:1711978",
          "Orphanet:280200",
          "UMLS:C5393309",
          "icd11.foundation:44293173"
        ],
        "synonyms": [
          "HPE, minor form",
          "HPE-L",
          "HoloprosencC)phalie, minor form",
          "Holoprosencéphalie, minor form",
          "Microform HPE",
          "holoprosencephaly-like"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017219"
    },
    {
      "id": 19508,
      "label": "lobar holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016830",
          "MEDGEN:96559",
          "Orphanet:93924",
          "SCTID:253136007",
          "UMLS:C0431362",
          "icd11.foundation:121649206"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019756"
    },
    {
      "id": 19509,
      "label": "alobar holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016831",
          "MEDGEN:140909",
          "Orphanet:93925",
          "SCTID:253137003",
          "UMLS:C0431363",
          "icd11.foundation:381193163"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019757"
    },
    {
      "id": 21740,
      "label": "holoprosencephaly 13, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852,
        20040
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060954",
          "GARD:0025490",
          "MEDGEN:1714826",
          "OMIM:301043",
          "UMLS:C5393308"
        ],
        "synonyms": [
          "holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominant",
          "HOLOPROSENCEPHALY 13, X-LINKED",
          "HPE13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0026763"
    },
    {
      "id": 22096,
      "label": "holoprosencephaly 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025651",
          "MEDGEN:1811868",
          "OMIM:619895",
          "UMLS:C5676994"
        ],
        "synonyms": [
          "HPE14",
          "holoprosencephaly 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030886"
    },
    {
      "id": 22444,
      "label": "holoprosencephaly 12 with or without pancreatic agenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081398",
          "GARD:0025743",
          "MEDGEN:1684550",
          "OMIM:618500",
          "UMLS:C5193131"
        ],
        "synonyms": [
          "holoprosencephaly 12, with or without pancreatic agenesis",
          "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS",
          "HPE12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032787"
    },
    {
      "id": 24770,
      "label": "semilobar holoprosencephaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028043",
          "MEDGEN:199694",
          "Orphanet:220386",
          "UMLS:C0751617"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700419"
    },
    {
      "id": 26206,
      "label": "holoprosencephaly 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028099",
          "OMIM:621143"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976262"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 18727,
      "label": "non-acquired combined pituitary hormone deficiency"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}