{
  "id": 19735,
  "label": "hereditary stomatocytosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020102",
  "properties": {
    "xrefs": [
      "GARD:0019456",
      "ICD9:282.8",
      "MEDGEN:490161",
      "NANDO:2200623",
      "Orphanet:98365",
      "SCTID:14087004",
      "UMLS:C1262483",
      "icd11.foundation:2067120097"
    ],
    "synonyms": [
      "hereditary stomatocytic disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 5550,
      "label": "hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5966
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:583",
          "GARD:0023610",
          "ICD10CM:D55-D59",
          "MEDGEN:1916",
          "MESH:D000743",
          "NANDO:2200636",
          "NCIT:C34376",
          "SCTID:61261009",
          "UMLS:C0002878"
        ],
        "synonyms": [
          "anaemia hemolytic",
          "anemia hemolytic",
          "anemia, hemolytic",
          "hemolytic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies."
      },
      "child_count": 11,
      "reference_id": "MONDO:0003664"
    }
  ],
  "children": [
    {
      "id": 9476,
      "label": "southeast Asian ovalocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        17638,
        19735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016867",
          "ICD9:282.1",
          "MEDGEN:350649",
          "OMIM:166900",
          "Orphanet:98868",
          "SCTID:191169008",
          "UMLS:C1862322",
          "icd11.foundation:835618545"
        ],
        "synonyms": [
          "hereditary ovalocytosis",
          "Melanesian elliptocytosis",
          "Melanesian ovalocytosis",
          "SAO",
          "ovalocytosis, SA type",
          "sao",
          "stomatocytic elliptocytosis",
          "elliptocytosis 4",
          "elliptocytosis, stomatocytic hereditary",
          "he, stomatocytic",
          "ovalocytosis, Malaysian-Melanesian-Filipino type",
          "ovalocytosis, hereditary hemolytic",
          "ovalocytosis, southeast Asian"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008165"
    },
    {
      "id": 9784,
      "label": "overhydrated hereditary stomatocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        19735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111562",
          "GARD:0004183",
          "MEDGEN:348876",
          "MESH:C566111",
          "OMIM:185000",
          "Orphanet:3203",
          "SCTID:722125003",
          "UMLS:C1861455",
          "icd11.foundation:595647587"
        ],
        "synonyms": [
          "overhydrated hereditary stomatocytosis",
          "OHS",
          "OHST",
          "OVERHYDRATED hereditary stomatocytosis",
          "Potassium sodium disorder of erythrocyte",
          "Potassium-sodium disorder of erythrocyte",
          "stomatocytosis 1",
          "stomatocytosis I"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008493"
    },
    {
      "id": 9785,
      "label": "cryohydrocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        19735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010184",
          "MEDGEN:396137",
          "MESH:C535827",
          "OMIM:185020",
          "Orphanet:398088",
          "UMLS:C1861453"
        ],
        "synonyms": [
          "CHC",
          "cryohydrocytosis",
          "hereditary cryohydrocytosis with normal stomatin",
          "stomatocytosis, cold-sensitive",
          "pseudohyperkalemia Cardiff"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008494"
    },
    {
      "id": 13207,
      "label": "hereditary cryohydrocytosis with reduced stomatin",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        17944,
        19735,
        24323
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017036",
          "MEDGEN:332390",
          "MESH:C563840",
          "OMIM:608885",
          "Orphanet:168577",
          "UMLS:C1837206",
          "icd11.foundation:1459095719"
        ],
        "synonyms": [
          "ChC type 2",
          "hereditary cryohydrocytosis type 2",
          "sdCHC",
          "stomatin-deficient cryohydrocytosis",
          "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis",
          "SDCHCN",
          "cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly",
          "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly",
          "stomatin-deficient cryohydrocytosis with neurologic defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012143"
    },
    {
      "id": 13265,
      "label": "familial pseudohyperkalemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        19735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016785",
          "MEDGEN:324588",
          "MESH:C563785",
          "OMIM:609153",
          "Orphanet:90044",
          "SCTID:717254007",
          "UMLS:C1836705",
          "icd11.foundation:1653996588"
        ],
        "synonyms": [
          "PSHK2",
          "pseudohyperkalemia, familial, 2, due to red cell leak",
          "cryohydrocytosis, mild",
          "pseudohyperkalemia Chiswick",
          "pseudohyperkalemia East London",
          "pseudohyperkalemia Falkirk",
          "pseudohyperkalemia Lille"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012204"
    },
    {
      "id": 18116,
      "label": "dehydrated hereditary stomatocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111575",
          "GARD:0005623",
          "MEDGEN:124415",
          "NANDO:2200633",
          "Orphanet:3202",
          "SCTID:715526002",
          "UMLS:C0272051",
          "icd11.foundation:799088159"
        ],
        "synonyms": [
          "hereditary xerocytosis",
          "Desiccytosis hereditary",
          "xerocytosis hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017910"
    },
    {
      "id": 18992,
      "label": "Rh deficiency syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        19735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050641",
          "GARD:0012916",
          "MEDGEN:75772",
          "MESH:C562717",
          "OMIM:268150",
          "Orphanet:71275",
          "SCTID:37272000",
          "UMLS:C0272052",
          "icd11.foundation:1554765420"
        ],
        "synonyms": [
          "Rh deficiency syndrome",
          "Rh-null syndrome",
          "anemia, hemolytic, Rh-null, regulator type",
          "RH-null, regulator type",
          "RHN",
          "RHNR",
          "Rh-Mod",
          "Rh-null disease",
          "Rh-null disease, regulator type",
          "Rh-null hemolytic Anemia, regulator type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019107"
    }
  ],
  "roots": [
    {
      "id": 5550,
      "label": "hemolytic anemia"
    }
  ]
}