Blood Diseases

5q- syndrome
Aagenaes syndrome
Abdominal aortic aneurysm
Acquired agranulocytosis
Acquired hemophilia
Acquired hemophilia A
Acquired pure red cell aplasia
Acquired Von Willebrand syndrome
Acute erythroid leukemia
Acute graft versus host disease
Acute monoblastic leukemia
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
Acute myelomonocytic leukemia
Acute panmyelosis with myelofibrosis
Acute promyelocytic leukemia
Adenosine Deaminase 2 deficiency
Adrenocortical carcinoma
Adult T-cell leukemia/lymphoma
ALK+ histiocytosis
Alpha-thalassemia x-linked intellectual disability syndrome
AML with myelodysplasia-related features
Anemia due to Adenosine triphosphatase deficiency
Anemia sideroblastic and spinocerebellar ataxia
Aneurysm of sinus of Valsalva
Angioimmunoblastic T-cell lymphoma
Angioma hereditary neurocutaneous
Angioma serpiginosum
Antiphospholipid syndrome
Aplasia cutis congenita intestinal lymphangiectasia
Aplastic anemia
Arterial calcification of infancy
Arterial tortuosity syndrome
Atypical hemolytic uremic syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive protein C deficiency
Bannayan-Riley-Ruvalcaba syndrome
Behçet disease
Blastic plasmacytoid dendritic cell
Bleeding disorder due to P2RY12 defect
Bloom syndrome
Blue rubber bleb nevus syndrome
Buerger disease
Burkitt lymphoma
Campomelia Cumming type
Castleman disease
Cerebral cavernous malformation – Not a rare disease
Chediak-Higashi syndrome
Chromosome 17q11.2 deletion syndrome
Chronic myeloid leukemia
Chylous ascites
CLOVES syndrome
Cobb syndrome
Cold agglutinin disease
Congenital amegakaryocytic thrombocytopenia
Congenital analbuminemia
Congenital dyserythropoietic anemia type 1
Congenital dyserythropoietic anemia type 2
Congenital dyserythropoietic anemia type 3
Congenital erythropoietic porphyria
Congenital myasthenic syndrome with episodic apnea
Congenital pulmonary lymphangiectasia
Congenital thrombotic thrombocytopenic purpura
Cutaneous mastocytoma
Cutis laxa, autosomal recessive type 1
Cutis marmorata telangiectatica congenita
Cyclic neutropenia
Cyclic thrombocytopenia
Cystic medial necrosis of aorta
Dahlberg Borer Newcomer syndrome
Deafness-lymphedema-leukemia syndrome
Dehydrated hereditary stomatocytosis
Diamond-Blackfan anemia
Diamond-Blackfan anemia 2
Diamond-Blackfan anemia 3
Dyskeratosis congenita
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita X-linked
Ehlers-Danlos syndrome, dysfibronectinemic type
Eosinophilic granulomatosis with polyangiitis
Erythema elevatum diutinum
Essential thrombocythemia
Evans syndrome
Extranodal nasal NK/T cell lymphoma
Fabry disease
Factor V deficiency
Factor V Leiden thrombophilia – Not a rare disease
Factor VII deficiency
Factor X deficiency
Factor XI deficiency
Factor XII deficiency
Factor XIII deficiency
Familial hyperthyroidism due to mutations in TSH receptor
Familial LCAT deficiency
Familial platelet disorder with associated myeloid malignancy
Familial thoracic aortic aneurysm and dissection
Fanconi anemia
Fetal and neonatal alloimmune thrombocytopenia
Fibromuscular dysplasia – Not a rare disease
Follicular lymphoma
Genuine diffuse phlebectasia
Giant cell arteritis
Giant platelet syndrome
Glanzmann thrombasthenia
Glucocorticoid-remediable aldosteronism
Glutamate formiminotransferase deficiency
Glycogen storage disease type 12
Glycogen storage disease type 7
Glycoprotein VI deficiency
Goodpasture syndrome
Gorham’s disease
Granulomatosis with polyangiitis
Granulomatous slack skin disease
Gray platelet syndrome
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Heinz body anemias
Hemangioma thrombocytopenia syndrome
Hemochromatosis – Not a rare disease
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hemoglobin C disease
Hemoglobin E disease
Hemoglobin SC disease
Hemoglobin SE disease – Not a rare disease
Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
Hemolytic uremic syndrome
Hemophilia A
Hemophilia B
Hemorrhagic shock and encephalopathy syndrome
Hennekam syndrome
Henoch-Schonlein purpura
Heparin-induced thrombocytopenia
Hereditary antithrombin deficiency
Hereditary elliptocytosis
Hereditary folate malabsorption
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia type 2
Hereditary hemorrhagic telangiectasia type 3
Hereditary hemorrhagic telangiectasia type 4
Hereditary lymphedema type II
Hereditary methemoglobinemia
Hereditary paraganglioma-pheochromocytoma
Hereditary spherocytosis
Hermansky Pudlak syndrome 2
High molecular weight kininogen deficiency
Histiocytosis-lymphadenopathy plus syndrome
Hoyeraal Hreidarsson syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hypereosinophilic syndrome
Hypersensitivity vasculitis
Hypocomplementemic urticarial vasculitis
Hypofibrinogenemia, familial
Hypotrichosis-lymphedema-telangiectasia syndrome
Idiopathic neutropenia – Not a rare disease
Idiopathic thrombocytopenic purpura
Imerslund-Grasbeck syndrome
Inclusion body myopathy 2
Inherited bone marrow failure syndromes – Not a rare disease
Internal carotid agenesis
Intrinsic factor deficiency
Iron-refractory iron deficiency anemia
Jacobsen syndrome
Juvenile myelomonocytic leukemia
Juvenile temporal arteritis
Kanzaki disease
Kaposi sarcoma
Kaposiform Hemangioendothelioma
Kaposiform lymphangiomatosis
Kawasaki disease
Klippel-Trenaunay syndrome
Langerhans cell sarcoma
Large granular lymphocyte leukemia
Lesch Nyhan syndrome
Liddle syndrome
Lipedema – Not a rare disease
Lissencephaly 2
Loeys-Dietz syndrome
Loeys-Dietz syndrome type 1
Loeys-Dietz syndrome type 2
Loeys-Dietz syndrome type 3
Loeys-Dietz syndrome type 4
Lymphedema and cerebral arteriovenous anomaly
Lymphedema-distichiasis syndrome
Lymphomatoid papulosis
Maffucci syndrome
Majeed syndrome
Mantle cell lymphoma
McLeod neuroacanthocytosis syndrome
Megalencephaly-capillary malformation syndrome
Megaloblastic anemia due to dihydrofolate reductase deficiency
Methemoglobinemia, beta-globin type
Methylcobalamin deficiency cbl G type
Methylmalonic acidemia and homocysteinemia type cblX
Methylmalonic acidemia with homocystinuria type cblC
Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic acidemia with homocystinuria type cblF
Methylmalonic acidemia with homocystinuria type cblJ
Microcystic lymphatic malformation
Microscopic polyangiitis
Milroy disease
Multicentric Castleman Disease
Multifocal lymphangioendotheliomatosis with thrombocytopenia
Multiple myeloma
Multisystemic smooth muscle dysfunction syndrome
Myelodysplastic syndromes
Myeloid sarcoma
MYH9 related thrombocytopenia
Neonatal hemochromatosis
Neutropenia chronic familial
Neutropenia lethal congenital with eosinophilia
Non-involuting congenital hemangioma
Nonspherocytic hemolytic anemia due to hexokinase deficiency
Noonan syndrome
Noonan syndrome 1 – See Noonan syndrome
Noonan syndrome 2 – See Noonan syndrome
Noonan syndrome 3 – See Noonan syndrome
Noonan syndrome 4 – See Noonan syndrome
Noonan syndrome 5 – See Noonan syndrome
Noonan syndrome 6 – See Noonan syndrome
Orotic aciduria type 1
Overhydrated hereditary stomatocytosis
Paris-Trousseau thrombocytopenia
Parkes Weber syndrome
Paroxysmal cold hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
Pearson syndrome
PEHO syndrome
PHACE syndrome
Phosphoglycerate kinase deficiency
Plasmablastic lymphoma
Plasminogen activator inhibitor type 1 deficiency
Platelet storage pool deficiency
Plummer Vinson syndrome
POEMS syndrome
Poikiloderma with neutropenia
Polycythemia vera
Prekallikrein deficiency, congenital
Primary angiitis of the central nervous system
Primary central nervous system lymphoma
Primary familial and congenital polycythemia
Primary intestinal lymphangiectasia
Primary release disorder of platelets
Prolidase deficiency
Protein C deficiency – Not a rare disease
Protein S deficiency
Proteus syndrome
Prothrombin deficiency
Pseudo-Von Willebrand disease
Pseudohyperkalemia Cardiff
Pseudoxanthoma elasticum
Pulmonary arterio-veinous fistula
Pulmonary atresia with intact ventricular septum
Pulmonary vein stenosis
Purpura simplex – Not a rare disease
Pyropoikilocytosis hereditary
Pyruvate kinase deficiency
Quebec platelet disorder
Red cell phospholipid defect with hemolysis
Refractory cytopenia with unilineage dysplasia
Revesz syndrome
Reynolds syndrome
Rh deficiency syndrome
Rosai-Dorfman disease
Rotor syndrome
Scott syndrome
Severe congenital neutropenia autosomal dominant
Severe congenital neutropenia autosomal recessive 3
Sezary syndrome
Shwachman-Diamond syndrome
Sickle beta thalassemia
Sickle cell – hemoglobin D disease
Sickle cell anemia
Sideroblastic anemia – Not a rare disease
Sideroblastic anemia and mitochondrial myopathy
Sideroblastic anemia pyridoxine-refractory autosomal recessive
Sideroblastic anemia pyridoxine-responsive autosomal recessive
Slow-channel congenital myasthenic syndrome
Sneddon syndrome
Sturge-Weber syndrome
Supraumbilical midabdominal raphe and facial cavernous hemangiomas
Supravalvular aortic stenosis
Susac syndrome
Swyer syndrome
Systemic mastocytosis
T-cell/histiocyte rich large B cell lymphoma
Takayasu arteritis
TAR syndrome
Thiamine responsive megaloblastic anemia syndrome
Thoracolaryngopelvic dysplasia
Thrombocytopathy asplenia miosis
Thrombocytopenia 2
Thrombocytopenia with elevated serum IgA and renal disease
Thrombomodulin anomalies, familial
Thrombotic thrombocytopenic purpura, acquired
Transient erythroblastopenia of childhood
Transient myeloproliferative syndrome
Triosephosphate isomerase deficiency
Tuberous sclerosis
Tufted angioma
Twin to twin transfusion syndrome
Type 1 plasminogen deficiency
Unicentric Castleman disease
Vascular Ehlers-Danlos syndrome
Vein of Galen aneurysm
Von Hippel-Lindau disease
Von Willebrand disease – Not a rare disease
Warm antibody hemolytic anemia
White platelet syndrome
Williams syndrome
Wiskott Aldrich syndrome
WT limb blood syndrome
Wyburn-Mason syndrome
X-linked sideroblastic anemia
X-linked thrombocytopenia
Yellow nail syndrome