{ "id": 5573, "label": "familial hemolytic anemia", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0003689", "properties": { "xrefs": [ "DOID:589", "GARD:0006167", "ICD9:282", "ICD9:282.9", "MEDGEN:1919", "MESH:D000745", "NANDO:2100183", "NCIT:C34379", "SCTID:42601008", "UMLS:C0002881" ], "synonyms": [ "congenital hemolytic anemia", "hereditary hemolytic anemia", "anaemia hemolytic congenital", "anemia hemolytic congenital" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." }, "isLeaf": false, "isRoot": false, "child_count": 23, "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" }, { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" } ], "children": [ { "id": 7998, "label": "congenital nonspherocytic hemolytic anemia", "isLeaf": false, "isRoot": false, "parents": [ 3000, 5573, 18953 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2861", "EFO:1000641", "GARD:0024433", "ICD9:282.3", "MEDGEN:284", "MESH:D000746", "OMIMPS:300908", "SCTID:301317008", "UMLS:C0002882" ], "synonyms": [ "anemia, congenital, nonspherocytic hemolytic" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." }, "child_count": 30, "reference_id": "MONDO:0006506" }, { "id": 8914, "label": "elliptocytosis 2", "isLeaf": true, "isRoot": false, "parents": [ 5573, 17638 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015064", "MEDGEN:343643", "MESH:C565058", "OMIM:130600", "UMLS:C1851741" ], "synonyms": [ "SPTA1 hereditary elliptocytosis", "elliptocytosis 2", "elliptocytosis type 2", "elliptocytosis-2", "hereditary elliptocytosis caused by mutation in SPTA1", "EL2", "elliptocytosis, Rhesus-unlinked type" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." }, "child_count": 0, "reference_id": "MONDO:0007533" }, { "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": 9964, "label": "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema", "isLeaf": true, "isRoot": false, "parents": [ 5573, 18116 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111576", "GARD:0015126", "MEDGEN:1638271", "OMIM:194380", "UMLS:C4551512" ], "synonyms": [ "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema", "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema", "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal oedema", "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema", "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema", "DHS", "DHS1", "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema", "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal oedema", "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema", "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal oedema", "Desiccytosis, hereditary", "dehydrated hereditary stomatocytosis", "pseudohyperkalemia Edinburgh", "pseudohyperkalemia, familial, 1, due to Red cell leak", "xerocytosis, hereditary" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008689" }, { "id": 9966, "label": "abetalipoproteinemia", "isLeaf": true, "isRoot": false, "parents": [ 5573, 6756, 17998, 19712, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1386", "GARD:0000005", "MEDGEN:1253", "MESH:D000012", "NANDO:1200857", "NANDO:2200604", "NCIT:C84525", "NORD:703", "OMIM:200100", "Orphanet:14", "SCTID:190787008", "UMLS:C0000744", "icd11.foundation:1117838449" ], "synonyms": [ "Bassen-Kornzweig disease", "abetalipoproteinemia", "homozygous familial hypobetalipoproteinemia", "ABL", "Bassen Kornzweig syndrome", "Bassen-Kornzweig syndrome", "Betalipoprotein deficiency disease", "MTP deficiency", "abetalipoproteinemia neuropathy", "acanthocytosis", "apolipoprotein B deficiency", "congenital betalipoprotein deficiency syndrome", "microsomal triglyceride transfer Protein deficiency" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." }, "child_count": 0, "reference_id": "MONDO:0008692" }, { "id": 10360, "label": "hemolytic anemia due to diphosphoglycerate mutase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5573, 18954, 20022 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111630", "GARD:0001874", "MEDGEN:489898", "NCIT:C131638", "OMIM:222800", "Orphanet:714", "UMLS:C1291620" ], "synonyms": [ "diphosphoglycerate phosphatase deficiency", "erythrocytosis, familial, 8", "BPGM deficiency", "DPGM deficiency", "bisphosphoglycerate mutase deficiency", "bisphosphoglyceromutase deficiency", "diphosphoglycerate mutase deficiency of erythrocyte" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." }, "child_count": 0, "reference_id": "MONDO:0009113" }, { "id": 10534, "label": "glycogen storage disease VII", "isLeaf": true, "isRoot": false, "parents": [ 4502, 5573, 17928, 20022 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11721", "GARD:0005686", "MEDGEN:5342", "MESH:D006014", "MedDRA:10053241", "NANDO:1200823", "NANDO:1200829", "NANDO:2200543", "NCIT:C118437", "NORD:1196", "OMIM:232800", "Orphanet:371", "SCTID:89597008", "UMLS:C0017926" ], "synonyms": [ "GSD due to muscle phosphofructokinase deficiency", "GSD type 7", "GSD type VII", "GSDVII", "Glycogen Storage Disease Type 7", "PFKM glycogen storage disease", "Tarui disease", "glycogen storage disease VII", "glycogen storage disease caused by mutation in PFKM", "glycogen storage disease type 7", "glycogen storage disease type VII", "glycogenosis due to muscle phosphofructokinase deficiency", "glycogenosis type 7", "glycogenosis type VII", "phosphofructokinase deficiency", "GSD 7", "GSD7", "Pfkm deficiency", "glycogen storage disease 7", "glycogen storage disease due to muscle phosphofructokinase deficiency", "muscle phosphofructokinase deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." }, "child_count": 0, "reference_id": "MONDO:0009295" }, { "id": 11105, "label": "cutaneous porphyria", "isLeaf": true, "isRoot": false, "parents": [ 5573, 19020, 20022 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13271", "GARD:0004446", "MEDGEN:1861084", "MESH:D017092", "NANDO:1200817", "NANDO:2201268", "NCIT:C84697", "NORD:1599", "OMIM:263700", "Orphanet:79277", "SCTID:67312003", "UMLS:C5886774" ], "synonyms": [ "CEP", "Congenital Erythropoietic Porphyria", "Günther disease", "UROS-related erythropoietic porphyria", "cutaneous porphyria", "erythropoietic porphyria", "Cep", "Gunther disease", "Uros deficiency", "congenital erythropoietic porphyria", "congenital porphyria", "porphyria, congenital erythropoietic", "uroporphyrinogen 3 synthase deficiency", "uroporphyrinogen III synthase, deficiency of" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms." }, "child_count": 0, "reference_id": "MONDO:0009902" }, { "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": 13740, "label": "renal tubular acidosis, distal, 4, with hemolytic anemia", "isLeaf": true, "isRoot": false, "parents": [ 5573, 18488 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012354", "MEDGEN:1771439", "OMIM:611590", "Orphanet:93610", "UMLS:C5436235" ], "synonyms": [ "dRTA with anaemia", "dRTA with anemia", "distal renal tubular acidosis 4 with hemolytic anaemia", "distal renal tubular acidosis 4 with hemolytic anemia", "distal renal tubular acidosis with anaemia", "distal renal tubular acidosis with anemia", "RTA, distal, autosomal recessive, with hemolytic Anaemia", "renal tubular acidosis, distal, with hemolytic anaemia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." }, "child_count": 0, "reference_id": "MONDO:0012700" }, { "id": 13771, "label": "elliptocytosis 1", "isLeaf": true, "isRoot": false, "parents": [ 5573, 17638 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015528", "MEDGEN:394841", "MESH:C567520", "OMIM:611804", "UMLS:C2678497" ], "synonyms": [ "EPB41 hereditary elliptocytosis", "elliptocytosis 1", "elliptocytosis type 1", "elliptocytosis-1", "hereditary elliptocytosis caused by mutation in EPB41", "4.1- trait", "4.1-minus trait", "EL1", "Protein 4.1 of erythrocyte Membrane, defect of", "elliptocytosis, Rhesus-linked type" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." }, "child_count": 0, "reference_id": "MONDO:0012731" }, { "id": 13787, "label": "glycogen storage disease due to aldolase A deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5573, 17928, 20022 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000600", "ICD9:282.3", "MEDGEN:82895", "MESH:C562718", "NANDO:1200834", "OMIM:611881", "Orphanet:57", "SCTID:111578003", "UMLS:C0272066", "icd11.foundation:1020924235" ], "synonyms": [ "GSD due to aldolase A deficiency", "GSD type 12", "GSD type XII", "glycogen storage disease due to aldolase A deficiency", "glycogen storage disease type 12", "glycogen storage disease type XII", "glycogenosis due to aldolase A deficiency", "glycogenosis type 12", "glycogenosis type XII", "Aldoa deficiency", "GSD 12", "GSD12", "Red cell aldolase deficiency", "aldolase a deficiency", "aldolase deficiency red cell", "aldolase deficiency, Red cell", "glycogen storage disease 12", "glycogen storage disease XII" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported." }, "child_count": 0, "reference_id": "MONDO:0012747" }, { "id": 13898, "label": "primary CD59 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5573, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017054", "MEDGEN:393582", "MESH:C567355", "NANDO:2200804", "OMIM:612300", "Orphanet:169464", "UMLS:C2676767" ], "synonyms": [ "primary CD59 deficiency", "CD59 deficiency", "HACD59", "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012858" }, { "id": 15227, "label": "triosephosphate isomerase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4915, 5573, 17928, 20022 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050884", "GARD:0005287", "ICD9:282.3", "MEDGEN:349893", "MESH:C566029", "NCIT:C131652", "NORD:1793", "OMIM:615512", "Orphanet:868", "SCTID:234405009", "UMLS:C1860808" ], "synonyms": [ "hemolytic anaemia due to triosephosphate isomerase deficiency", "hemolytic anemia due to triosephosphate isomerase deficiency", "triose phosphate-isomerase deficiency", "triosephosphate isomerase deficiency", "TPI deficiency", "TPID" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." }, "child_count": 0, "reference_id": "MONDO:0014221" }, { "id": 15729, "label": "dehydrated hereditary stomatocytosis 2", "isLeaf": true, "isRoot": false, "parents": [ 5573, 18116 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111577", "GARD:0016152", "MEDGEN:908701", "OMIM:616689", "UMLS:C4225242" ], "synonyms": [ "DHS2", "Dehydrated hereditary stomatocytosis 2", "Dehydrated hereditary stomatocytosis type 2", "KCNN4 dehydrated hereditary stomatocytosis", "dehydrated hereditary stomatocytosis 2; DHS2", "dehydrated hereditary stomatocytosis caused by mutation in KCNN4", "Desiccytosis Gardos", "xerocytosis Gardos" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene." }, "child_count": 0, "reference_id": "MONDO:0014737" }, { "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" }, { "id": 19187, "label": "hereditary spherocytosis", "isLeaf": false, "isRoot": false, "parents": [ 5573 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12971", "GARD:0006639", "ICD10CM:D58.0", "ICD9:282.0", "MEDGEN:52450", "MESH:D013103", "MedDRA:10019904", "NANDO:2200622", "NCIT:C97074", "NORD:777", "Orphanet:822", "SCTID:55995005", "UMLS:C0037889", "icd11.foundation:1305248013" ], "synonyms": [ "Minkowski-Chauffard disease", "congenital spherocytic hemolytic anaemia", "hereditary spherocytosis", "spherocytic anaemia", "congenital spherocytosis" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." }, "child_count": 5, "reference_id": "MONDO:0019350" }, { "id": 19232, "label": "congenital dyserythropoietic anemia", "isLeaf": false, "isRoot": false, "parents": [ 5573 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1338", "GARD:0001999", "ICD10CM:D64.4", "ICD9:285.8", "MEDGEN:8064", "MESH:D000742", "NANDO:1200885", "NANDO:2100178", "NANDO:2200615", "NCIT:C84646", "OMIMPS:224120", "Orphanet:85", "SCTID:52951008", "UMLS:C0002876", "icd11.foundation:899830967" ], "synonyms": [ "CDA", "anemia, congenital dyserythropoietic", "congenital dyshaematopoietic anaemia", "congenital dyshaematopoietic anemia", "dyserythropoietic anemia, congenital" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA." }, "child_count": 9, "reference_id": "MONDO:0019403" }, { "id": 23677, "label": "X-linked congenital hemolytic anemia", "isLeaf": true, "isRoot": false, "parents": [ 2902, 5573 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111846", "GARD:0025994", "MEDGEN:1648376", "OMIM:301015", "UMLS:C4746970" ], "synonyms": [ "hemolytic anemia, congenital, X-linked, X-linked recessive", "hemolytic anemia, congenital, X-linked" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060455" }, { "id": 25316, "label": "hemolytic disease of fetus and newborn, RH-induced", "isLeaf": true, "isRoot": false, "parents": [ 5573 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026662", "MEDGEN:1789316", "OMIM:619462", "UMLS:C0748400" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859172" } ], "roots": [ { "id": 5550, "label": "hemolytic anemia" }, { "id": 5714, "label": "hereditary disease" } ] }