{ "id": 10564, "label": "congenital hematological disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0009332", "properties": { "xrefs": [ "MEDGEN:760584", "NCIT:C104003", "UMLS:C3267032" ], "synonyms": [ "congenital haematological system disease", "congenital hematological disorder", "congenital hematological system disease" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disorder of the blood that is present at birth." }, "isLeaf": false, "isRoot": false, "child_count": 21, "parents": [ { "id": 7217, "label": "hematologic disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:74", "EFO:0005803", "GTR:AN1320635", "ICD10CM:D50-D89", "ICD9:280-289", "ICD9:289.8", "ICD9:289.9", "MEDGEN:5483", "MESH:D006402", "NANDO:1100006", "NANDO:2100175", "NCIT:C26323", "Orphanet:97992", "SCTID:414022008", "UMLS:C0018939" ], "synonyms": [ "blood disease", "blood disorder", "disease of hematopoietic system", "disease of the blood and blood-forming organs", "disease or disorder of haematopoietic system", "disease or disorder of hematopoietic system", "disorder of haematopoietic system", "disorder of hematopoietic system", "haematological disease", "haematological disorder", "haematological system disease", "haematopoietic disease", "haematopoietic system disease or disorder", "hematologic and lymphocytic disorder", "hematologic disorder", "hematological disease", "hematological disorder", "hematological system disease", "hematopoietic disease", "hematopoietic system disease", "hematopoietic system disease or disorder", "rare hematologic disease", "haematological disorders and malignancies", "hematological disorders and malignancies" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disease involving the hematopoietic system." }, "child_count": 27, "reference_id": "MONDO:0005570" } ], "children": [ { "id": 3000, "label": "congenital anemia", "isLeaf": false, "isRoot": false, "parents": [ 4394, 10564 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022807", "MEDGEN:102361", "NCIT:C35228", "SCTID:63565007", "UMLS:C0158995" ], "synonyms": [ "congenital anaemia (disease)", "congenital anemia", "congenital anemia (disease)" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Anemia, the cause of which is present at birth." }, "child_count": 16, "reference_id": "MONDO:0000577" }, { "id": 4075, "label": "congenital agammaglobulinemia", "isLeaf": false, "isRoot": false, "parents": [ 10564, 16629 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14177", "GARD:0023034", "ICD9:279.04", "MEDGEN:1806025", "UMLS:C5574711" ], "synonyms": [ "congenital agammaglobulinemia", "congenital hypogammaglobulinemia (finding)" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An instance of agammaglobulinemia that is present from birth." }, "child_count": 4, "reference_id": "MONDO:0001902" }, { "id": 9793, "label": "sulfhemoglobinemia, congenital", "isLeaf": true, "isRoot": false, "parents": [ 8412, 10564, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024625", "MEDGEN:350024", "MESH:C566102", "OMIM:185460", "UMLS:C1861437" ], "synonyms": [ "sulfhemoglobinemia, congenital" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008502" }, { "id": 10552, "label": "congenital factor XII deficiency", "isLeaf": true, "isRoot": false, "parents": [ 2905, 4359, 4360, 10564, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2231", "GARD:0006558", "ICD9:286.3", "MEDGEN:8772", "MESH:D005175", "NANDO:2200680", "NCIT:C131740", "NORD:1119", "OMIM:234000", "Orphanet:330", "SCTID:46981006", "UMLS:C0015526" ], "synonyms": [ "Factor XII Deficiency", "Hageman Factor deficiency", "congenital Hageman factor deficiency", "congenital factor XII deficiency", "F12 deficiency", "Haf deficiency", "coagulation factor 12 deficiency", "factor 12 deficiency", "factor XII deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." }, "child_count": 0, "reference_id": "MONDO:0009315" }, { "id": 11154, "label": "leukocyte adhesion deficiency type II", "isLeaf": true, "isRoot": false, "parents": [ 7157, 10564, 17851, 17978 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070255", "DOID:0080492", "GARD:0004634", "MEDGEN:96022", "MESH:C535755", "NCIT:C4690", "OMIM:266265", "Orphanet:99843", "SCTID:234583001", "UMLS:C0398739" ], "synonyms": [ "CDG IIc", "CDG syndrome type IIc", "CDG-IIc", "CDG2C", "CDGIIc", "LAD-II", "LAD2", "RHS", "Rambam-Hasharon syndrome", "SLC35C1-CDG", "lad-II", "lad-type II", "leukocyte adhesion deficiency type 2", "leukocyte adhesion deficiency type II", "leukocyte adhesion deficiency, type II", "sialyl-Lewis X defect", "CDG 2C", "SLC35C1-CDG (CDG-IIc)", "congenital disorder of glycosylation type IIC", "congenital disorder of glycosylation, type IIc", "leukocyte adhesion deficiency, type 2" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009953" }, { "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": 11306, "label": "congenital thrombotic thrombocytopenic purpura", "isLeaf": true, "isRoot": false, "parents": [ 2702, 10564, 18824, 20411, 23981 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009430", "ICD9:287.33", "MEDGEN:224783", "NANDO:1200317", "NCIT:C131657", "OMIM:274150", "Orphanet:93583", "SCTID:373420004", "UMLS:C1268935" ], "synonyms": [ "Upshaw-Schulman syndrome", "congenital ADAMTS-13 deficiency", "congenital ADAMTS13 deficiency", "congenital TTP", "congenital thrombotic thrombocytopenic purpura", "familial TTP", "hereditary thrombotic thrombocytopenic purpura", "thrombotic thrombocytopenic purpura, hereditary", "Microangiopathic hemolytic Anaemia", "Microangiopathic hemolytic Anemia", "Microangiopathic hemolytic Anemia, congenital", "Schulman-Upshaw syndrome", "TTP", "TTP, congenital", "USS", "Upshaw Factor, deficiency of", "thrombotic microangiopathy, familial", "thrombotic thrombocytopenic purpura, congenital", "thrombotic thrombocytopenic purpura, familial" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." }, "child_count": 0, "reference_id": "MONDO:0010122" }, { "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": 13514, "label": "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency", "isLeaf": true, "isRoot": false, "parents": [ 10564, 17977, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009965", "MEDGEN:1684821", "NANDO:1200983", "OMIM:610293", "Orphanet:83639", "SCTID:724344004", "UMLS:C5201145", "icd11.foundation:1811042875" ], "synonyms": [ "PIGM-CDG", "GPI deficiency", "GPID", "congenital disorder of glycosylation due to PIGM deficiency", "glycosylphosphatidylinositol biosynthesis defect 1", "glycosylphosphatidylinositol deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." }, "child_count": 0, "reference_id": "MONDO:0012465" }, { "id": 13937, "label": "congenital factor XI deficiency", "isLeaf": true, "isRoot": false, "parents": [ 2905, 4360, 10564, 20024, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2229", "GARD:0009670", "ICD10CM:D68.1", "ICD9:286.2", "MEDGEN:8770", "NCIT:C84705", "OMIM:612416", "Orphanet:329", "SCTID:49762007", "UMLS:C0015523", "icd11.foundation:413739466" ], "synonyms": [ "PTA deficiency", "Rosenthal factor deficiency", "Rosenthal syndrome", "Rosenthal's disease", "congenital factor XI deficiency", "factor XI deficiency, autosomal dominant", "factor XI deficiency, autosomal recessive", "haemophilia C", "hemophilia C", "hereditary Factor XI deficiency", "hereditary factor XI deficiency", "hereditary factor XI deficiency disease", "plasma thromboplastin antecedent deficiency", "F11 deficiency", "factor 11 deficiency", "factor XI deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." }, "child_count": 0, "reference_id": "MONDO:0012897" }, { "id": 14263, "label": "congenital plasminogen activator inhibitor type 1 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4359, 4360, 10564, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004381", "MEDGEN:412870", "MESH:C567640", "NANDO:2200688", "NCIT:C133884", "OMIM:613329", "Orphanet:465", "SCTID:717407006", "UMLS:C2750067", "icd11.foundation:428643962" ], "synonyms": [ "congenital PAI-1 deficiency", "congenital plasminogen activator inhibitor type 1 deficiency", "hyperfibrinolysis due to Pai1 deficiency", "plasminogen activator INHIBITOR-1 deficiency", "plasminogen activator inhibitor type 1 deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." }, "child_count": 0, "reference_id": "MONDO:0013227" }, { "id": 15449, "label": "congenital analbuminemia", "isLeaf": true, "isRoot": false, "parents": [ 5714, 10564 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013056", "MEDGEN:930922", "NCIT:C124851", "OMIM:616000", "Orphanet:86816", "SCTID:718721006", "UMLS:C4305253" ], "synonyms": [ "ANALBA", "analbuminemia" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)." }, "child_count": 0, "reference_id": "MONDO:0014449" }, { "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": 16076, "label": "constitutional neutropenia", "isLeaf": false, "isRoot": false, "parents": [ 3689, 10564 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019809", "MEDGEN:1785816", "NCIT:C61242", "Orphanet:101987", "UMLS:C3805116", "icd11.foundation:87096615" ], "synonyms": [ "congenital neutropenia", "genetic infantile agranulocytosis", "infantile genetic agranulocytosis", "Kostmann disease", "Kostmann neutropenia", "Kostmann syndrome" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood." }, "child_count": 26, "reference_id": "MONDO:0015134" }, { "id": 16482, "label": "congenital vitamin K-dependent coagulation factors deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4359, 4360, 10564, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112172", "GARD:0020121", "MEDGEN:1378036", "OMIMPS:277450", "Orphanet:169826", "Orphanet:98434", "UMLS:C4510617", "icd11.foundation:54644599" ], "synonyms": [ "congenital vitamin K-dependent coagulation factors combined deficiency", "vitamin K-dependent clotting factors, combined deficiency of" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors." }, "child_count": 20, "reference_id": "MONDO:0015722" }, { "id": 17035, "label": "congenital secondary polycythemia", "isLeaf": false, "isRoot": false, "parents": [ 10564, 19740 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020635", "MEDGEN:1843354", "Orphanet:238536", "UMLS:C5679848" ], "synonyms": [ "congenital secondary erythrocytosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0016540" }, { "id": 18175, "label": "hereditary thrombocytosis with transverse limb defect", "isLeaf": true, "isRoot": false, "parents": [ 10564, 18362, 18956, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021487", "MEDGEN:1653707", "Orphanet:329319", "UMLS:C4749944" ], "synonyms": [ "familial thrombocytosis with transverse limb defect", "thrombocythemia with distal limb defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." }, "child_count": 0, "reference_id": "MONDO:0018000" }, { "id": 18203, "label": "congenital factor XIII deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4358, 4360, 10564 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2211", "GARD:0010766", "ICD9:286.3", "MEDGEN:4639", "NANDO:2200681", "NCIT:C131633", "Orphanet:331", "SCTID:50189006", "UMLS:C0015530" ], "synonyms": [ "fibrin-stabilizing factor deficiency", "factor XIII deficiency", "fibrin stabilising factor deficiency", "fibrin stabilizing factor deficiency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies." }, "child_count": 6, "reference_id": "MONDO:0018029" }, { "id": 22739, "label": "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10564, 16087, 16471, 18362, 18956, 18958, 19279, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022071", "MEDGEN:1799320", "Orphanet:508542", "UMLS:C5567897" ], "synonyms": [ "MYSM1 deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "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:0033683" }, { "id": 25040, "label": "congenital amegakaryocytic thrombocytopenia 1", "isLeaf": true, "isRoot": false, "parents": [ 10564, 25039 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061005", "DOID:0090118", "GARD:0000640", "MEDGEN:1845022", "MESH:C535982", "NCIT:C115207", "OMIM:604498", "Orphanet:3319", "SCTID:716336002", "UMLS:C5882667" ], "synonyms": [ "CAMT1", "amegakaryocytic thrombocytopenia, congenital 1", "thrombocytopenia, congenital amegakaryocytic", "thrombocytopenia congenital amegakaryocytic" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." }, "child_count": 0, "reference_id": "MONDO:0800452" } ], "roots": [ { "id": 7217, "label": "hematologic disorder" } ] }