{
  "id": 18746,
  "label": "syndromic constitutional thrombocytopenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018795",
  "properties": {
    "xrefs": [
      "GARD:0021967",
      "MEDGEN:1843101",
      "Orphanet:477794",
      "UMLS:C5681257"
    ],
    "synonyms": [
      "syndromic constitutional thrombocytopenia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 23981,
      "label": "inherited thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4196,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026095",
          "OMIMPS:313900"
        ],
        "synonyms": [
          "hereditary thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An instance of thrombocytopenia that is inherited."
      },
      "child_count": 42,
      "reference_id": "MONDO:0100241"
    }
  ],
  "children": [
    {
      "id": 9174,
      "label": "Jacobsen syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        17329,
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111723",
          "GARD:0000307",
          "MEDGEN:162878",
          "NCIT:C75457",
          "OMIM:147791",
          "Orphanet:2308",
          "SCTID:715438008",
          "UMLS:C0795841",
          "icd11.foundation:27788176"
        ],
        "synonyms": [
          "11q terminal deletion disorder",
          "Del(11)(q23.3)",
          "Del(11)(qter)",
          "Jacobsen syndrome",
          "Jacobsen syndrome, Isolated cases",
          "distal deletion 11q",
          "distal monosomy 11q",
          "monosomy 11qter",
          "telomeric deletion 11q",
          "JBS",
          "chromosome 11q deletion syndrome",
          "partial 11q monosomy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007838"
    },
    {
      "id": 9786,
      "label": "platelet storage pool deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2223",
          "EFO:1001112",
          "GARD:0005034",
          "MEDGEN:19351",
          "MESH:D010981",
          "OMIM:185050",
          "Orphanet:734",
          "SCTID:234474009",
          "UMLS:C0032197"
        ],
        "synonyms": [
          "alpha dense granule deficiency",
          "combined alpha-delta platelet storage pool deficiency",
          "alpha delta granule deficiency",
          "platelet storage pool diseases",
          "storage pool platelet disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008495"
    },
    {
      "id": 9788,
      "label": "Stormorken syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060354",
          "GARD:0005188",
          "ICD9:759.89",
          "MEDGEN:350028",
          "MESH:C566108",
          "OMIM:185070",
          "Orphanet:3204",
          "SCTID:711407000",
          "UMLS:C1861451"
        ],
        "synonyms": [
          "Stormorken syndrome",
          "Thrombocytopathy-asplenia-miosis syndrome",
          "STRMK",
          "Stormorken-Sjaastad-Langslet syndrome",
          "Thrombocytopathy asplenia miosis",
          "Thrombocytopathy, asplenia, and miosis",
          "york Platelet syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008497"
    },
    {
      "id": 11305,
      "label": "thrombocytopenia-absent radius syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        10564,
        18362,
        18746,
        18956,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:64",
          "DOID:14699",
          "GARD:0005116",
          "ICD9:759.89",
          "MEDGEN:61235",
          "MESH:C536940",
          "MedDRA:10071719",
          "NANDO:2200661",
          "NCIT:C99038",
          "NORD:1768",
          "OMIM:274000",
          "Orphanet:3320",
          "SCTID:85589009",
          "UMLS:C0175703"
        ],
        "synonyms": [
          "1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome",
          "TAR syndrome",
          "Thrombocytopenia Absent Radius Syndrome",
          "radial aplasia-thrombocytopenia syndrome",
          "thrombocytopenia-absent radius syndrome",
          "TAR",
          "Tar syndrome",
          "absent radii and thrombocytopenia",
          "chromosome 1Q21.1 deletion syndrome, 200-Kb",
          "thrombocytopenia absent radii",
          "thrombocytopenia absent radius syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010121"
    },
    {
      "id": 12651,
      "label": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        10564,
        18362,
        18746,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016687",
          "MEDGEN:340183",
          "MESH:C565328",
          "NANDO:2200660",
          "OMIMPS:605432",
          "Orphanet:71289",
          "SCTID:721882001",
          "UMLS:C1854273"
        ],
        "synonyms": [
          "ATRUS syndrome",
          "RUSAT",
          "radioulnar synostosis with amegakaryocytic thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0011555"
    },
    {
      "id": 12699,
      "label": "GNE myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9164,
        10564,
        16735,
        17978,
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080718",
          "GARD:0009493",
          "MEDGEN:381298",
          "NANDO:1200218",
          "NORD:2011",
          "OMIM:605820",
          "Orphanet:602",
          "SCTID:702382000",
          "UMLS:C1853926"
        ],
        "synonyms": [
          "DMRV",
          "HIBM2",
          "IBM2",
          "Nonaka myopathy",
          "distal myopathy with rimmed vacuoles",
          "distal myopathy, Nonaka type",
          "hereditary inclusion body myopathy type 2",
          "inclusion body myopathy autosomal recessive",
          "inclusion body myopathy type 2",
          "quadriceps-sparing myopathy",
          "NM",
          "Nonaka distal myopathy",
          "QSM",
          "inclusion body myopathy 2, autosomal recessive",
          "inclusion body myopathy 2, autosomal recessive, formerly",
          "inclusion body myopathy, autosomal recessive",
          "inclusion body myopathy, hereditary, autosomal recessive",
          "inclusion body myopathy, quadriceps-sparing",
          "myopathy, distal, with or without rimmed vacuoles",
          "myopathy, distal, with rimmed vacuoles",
          "quadriceps sparing myopathy",
          "rimmed vacuole myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011603"
    },
    {
      "id": 15748,
      "label": "macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        10564,
        16087,
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017884",
          "MEDGEN:906646",
          "NANDO:2200985",
          "OMIM:616737",
          "Orphanet:487796",
          "UMLS:C4225222"
        ],
        "synonyms": [
          "Takenouchi-Kosaki syndrome",
          "TAKENOUCHI-Kosaki syndrome",
          "TKS",
          "macrothrombocytopenia and intellectual disability syndrome",
          "macrothrombocytopenia and mental retardation syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014757"
    },
    {
      "id": 15821,
      "label": "thrombocytopenia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18746,
        19727,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017870",
          "MEDGEN:934756",
          "OMIM:616937",
          "Orphanet:480851",
          "UMLS:C4310789"
        ],
        "synonyms": [
          "hereditary thrombocytopenia with early-onset myelofibrosis",
          "thrombocytopenia 6",
          "thrombocytopenia type 6",
          "THC6",
          "thrombocytopenia, autosomal dominant, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014837"
    },
    {
      "id": 16611,
      "label": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        4370,
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060651",
          "EFO:0009646",
          "GARD:0000180",
          "ICD9:287.33",
          "ICD9:582.89",
          "ICD9:759.89",
          "MEDGEN:1704278",
          "MESH:C537831",
          "NCIT:C131646",
          "NCIT:C158788",
          "OMIM:153640",
          "OMIM:155100",
          "OMIM:600208",
          "OMIM:605249",
          "Orphanet:1019",
          "Orphanet:182050",
          "Orphanet:1984",
          "Orphanet:807",
          "Orphanet:850",
          "SCTID:234484005",
          "SCTID:234485006",
          "SCTID:236422008",
          "SCTID:712922002",
          "UMLS:C5200934"
        ],
        "synonyms": [
          "Epstein syndrome",
          "Fechtner syndrome",
          "MYH9-RD",
          "MYH9-related disease",
          "MYH9-related disorder",
          "MYH9-related syndrome",
          "MYH9-related syndromic thrombocytopenia",
          "May-Hegglin anomaly",
          "Sebastian platelet syndrome",
          "Sebastian syndrome",
          "giant platelet syndrome with thrombocytopenia",
          "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
          "macrothrombocytopenia and progressive sensorineural deafness",
          "Alport syndrome with macrothrombocytopenia",
          "Alport syndrome with macrothrombocytopenia, formerly",
          "Brodie Chole griffin syndrome",
          "Brodie Chole gryphon syndrome",
          "Dohle leukocyte inclusions with giant platelets",
          "FTNS",
          "MHA",
          "MYH9 related disorders",
          "MYH9 related thrombocytopenia",
          "May-Hegglin thrombocytopenia",
          "SBS",
          "bleeding disorder, Platelet-type, 6",
          "macrothrombocytopenia progressive deafness",
          "macrothrombocytopenia with dispersed leukocytic inclusions",
          "macrothrombocytopenia with leukocyte inclusions",
          "macrothrombocytopenia, nephritis, and deafness",
          "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions",
          "matins"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015912"
    },
    {
      "id": 16894,
      "label": "marcothrombocytopenia with mitral valve insufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020538",
          "MEDGEN:1649052",
          "Orphanet:220448",
          "UMLS:C4749648"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016360"
    },
    {
      "id": 23368,
      "label": "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017904",
          "MEDGEN:1798888",
          "Orphanet:494444",
          "UMLS:C5567465"
        ],
        "synonyms": [
          "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044635"
    },
    {
      "id": 24160,
      "label": "ACTB-associated syndromic thrombocytopenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026211",
          "MEDGEN:1851006",
          "OMIM:620475",
          "Orphanet:674653",
          "UMLS:C5882677"
        ],
        "synonyms": [
          "ACTB-AST",
          "thrombocytopenia 8, with dysmorphic features and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100433"
    }
  ],
  "roots": [
    {
      "id": 23981,
      "label": "inherited thrombocytopenia"
    }
  ]
}