Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Absent axillary hair, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, T lymphocytopenia, Nail pits |
ORPHA:169095 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
Hypotrichosis 10 |
|
Sparse eyelashes, Sparse eyebrow, Sparse body hair |
OMIM:614238 |
Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Decreased helper T cell proportion, T lymphocytopenia, Nai... |
OMIM:601705 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Alopecia, Impaired platelet aggregation |
OMIM:617443 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hirsutism, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia |
OMIM:616435 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Alopecia, Autoimmune hemolytic anemia |
OMIM:616576 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia, Nail dystrophy, Nail dysplasia |
OMIM:613987 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:603552 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... |
OMIM:601399 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Hypertrichosis |
ORPHA:1063 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... |
OMIM:173470 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia |
OMIM:614171 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoplasia of the thymus, Alopecia, Anemia, Splenomegaly, Severe B lymphocytop... |
OMIM:603554 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production |
OMIM:300367 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Thrombocytopenia, Hypersplenism, Anemia, Splenomegaly |
OMIM:610539 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
Specific Granule Deficiency 2 |
|
Hirsutism, Neutropenia, Absent neutrophil specific granules, Anemia, Nail dysplasia, Fragile nail... |
OMIM:617475 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Nail dystrophy, Alopecia, Anemia, Aplastic anemia, Lymphopenia, Thrombocytopenia, Sp... |
OMIM:127550 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Griscelli Syndrome |
|
Silver-gray hair, Leukopenia, White hair, Abnormal eyebrow morphology, Splenomegaly, Thrombocytop... |
ORPHA:381 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Nail dystrophy, Nail dysplasia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Prem... |
OMIM:613989 |
Immunodeficiency 10 |
|
Thrombocytopenia, Nail dysplasia, Autoimmune hemolytic anemia |
OMIM:612783 |
Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Alopecia, Anemia, Autoimmune thrombocytopenia, Thr... |
OMIM:304790 |
Isovaleric Acidemia |
|
Pancytopenia, Thrombocytopenia, Leukopenia |
OMIM:243500 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Fine hair, Leukopenia, Alopecia, Nail dysplasia, Pancytopenia, Thrombocytopenia, Aplastic anemia,... |
OMIM:613990 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:610333 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
Folate Malabsorption, Hereditary |
|
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis |
OMIM:617718 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia |
OMIM:618048 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
Hoyeraal-Hreidarsson Syndrome |
|
Thrombocytopenia, Nail dystrophy, Anemia, Generalized hypopigmentation of hair, Abnormal leukocyt... |
ORPHA:3322 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positi... |
OMIM:613011 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
Hermansky-Pudlak Syndrome 5 |
|
Thrombocytopenia, Albinism |
OMIM:614074 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Thrombocytopenia, Leukopenia |
OMIM:619151 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... |
ORPHA:824 |
Babesiosis |
|
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly |
ORPHA:108 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse eyelashes, Small nail, Thrombocytopenia, Nail dystrophy, Pterygium of nails, Nail dysplasi... |
OMIM:224230 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Intermittent thrombocytopenia, Splenomegaly |
OMIM:150550 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
Leishmaniasis |
|
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia |
ORPHA:507 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
ORPHA:101028 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Systemic Lupus Erythematosus |
|
Thrombocytopenia, Hemolytic anemia, Leukopenia |
OMIM:152700 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Isolated Agammaglobulinemia |
|
Thrombocytopenia, Abnormal lymphocyte morphology, Anemia, Abnormality of neutrophils |
ORPHA:229717 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Anemia, Thrombocytopenia, Leukopenia |
ORPHA:27 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia |
OMIM:616050 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:230900 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Alopecia |
ORPHA:79242 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Splenomegaly |
OMIM:615846 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
ORPHA:158029 |
Schimke Immunoosseous Dysplasia |
|
Fine hair, Abnormal T cell morphology, Neutropenia, Coarse hair, Anemia, Lymphopenia, Thrombocyto... |
OMIM:242900 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
Chediak-Higashi Syndrome |
|
Neutropenia, Silver-gray hair, Leukopenia, Abnormal dense granules, Giant neutrophil granules, An... |
OMIM:214500 |
Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia |
OMIM:249270 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia |
OMIM:259710 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopen... |
ORPHA:100026 |
Rhabdoid Tumor |
|
Thrombocytopenia, Anemia |
ORPHA:69077 |
X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Alopecia, Neutropenia |
ORPHA:47 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm... |
ORPHA:3226 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Neutropenia, Low anterior hairline, Leukopenia, Thrombocytopenia, Coarse hair, Long ey... |
OMIM:617303 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
Prolidase Deficiency |
|
Thrombocytopenia, Anemia, Splenomegaly, Low posterior hairline, Facial hirsutism |
OMIM:170100 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia |
ORPHA:398124 |
Congenital Rubella Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:290 |
Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly, Thick hair |
ORPHA:263501 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612926 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Alopecia |
OMIM:253270 |
Lig4 Syndrome |
|
Pancytopenia, Thrombocytopenia |
OMIM:606593 |
Hermansky-Pudlak Syndrome 2 |
|
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Albinism, Splenome... |
OMIM:608233 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Small nail, Neutropenia |
OMIM:614520 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia |
OMIM:608104 |
Transaldolase Deficiency |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Synophrys |
OMIM:606003 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Anemia |
OMIM:611209 |
Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Stormorken Syndrome |
|
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia |
OMIM:185070 |
Letterer-Siwe Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly |
ORPHA:85212 |
Adams-Oliver Syndrome |
|
Leukopenia, Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, Absent fingernail, Th... |
ORPHA:974 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Bleeding Disorder, Platelet-Type, 17 |
|
Absence of alpha granules, Thrombocytopenia |
OMIM:187900 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:619644 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Curly hair |
OMIM:616638 |
Kasabach-Merritt Syndrome |
|
Hypertrichosis, Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytos... |
ORPHA:2330 |
Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Alopecia, Absent eyebrow, Splenomegaly, Loss of eyelashes, Thrombocytopenia, Hemo... |
OMIM:263700 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... |
ORPHA:86839 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia, Alopecia totalis |
OMIM:618775 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
Tularemia |
|
Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:3392 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia |
ORPHA:90045 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... |
OMIM:612541 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:158061 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia |
ORPHA:91547 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thr... |
OMIM:259720 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Gaucher Disease, Type I |
|
Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia |
ORPHA:292 |
Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
Noonan Syndrome 4 |
|
High anterior hairline, Thrombocytopenia, Curly hair, Sparse eyebrow |
OMIM:610733 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Microangiopathic hemolytic anemia, Alopecia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Anemia |
ORPHA:231111 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:613845 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Thrombocytopenia, Leukopenia |
OMIM:251000 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... |
OMIM:614700 |
Felty Syndrome |
|
Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:47612 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Wolfram Syndrome 1 |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia |
OMIM:222300 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
ORPHA:64743 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
Boutonneuse Fever |
|
Thrombocytopenia, Leukopenia |
ORPHA:83313 |
Dengue Fever |
|
Thrombocytopenia, Leukopenia |
ORPHA:99828 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia |
OMIM:274150 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:90060 |
Mogs-Cdg |
|
Hirsutism, Alopecia, Long eyelashes, Hepatosplenomegaly, Thrombocytopenia, Fair hair |
ORPHA:79330 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277380 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:614576 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Bone-marrow foam cells, Anemia, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Thro... |
OMIM:278000 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Thrombocytopenia, Small nail, Hirsutism, Leukopenia |
OMIM:301056 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:259700 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Cyclic Neutropenia |
|
Thrombocytopenia, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia |
ORPHA:2686 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... |
ORPHA:79124 |
Wilson Disease |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:905 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Anemia, Congenital thrombocytopenia |
OMIM:618886 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia |
OMIM:235400 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... |
ORPHA:167 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Highly arched eyebrow, Abnormal hair pattern, Thrombocytopenia |
ORPHA:261250 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Broad eyebrow, Sacral hypertrichosis, Thrombocytopenia |
ORPHA:457351 |
Dyskeratosis Congenita |
|
Thrombocytopenia, White hair, Nail dystrophy, Alopecia, Anemia, Abnormal eyebrow morphology, Sple... |
ORPHA:1775 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Thrombocytopenia, Hemolytic anemia, Splenomegaly |
ORPHA:169090 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Snakebite Envenomation |
|
Thrombocytopenia |
ORPHA:449285 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
ORPHA:77259 |
Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:251290 |
Alg8-Cdg |
|
Thrombocytopenia, Anemia |
ORPHA:79325 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia |
ORPHA:508542 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
ORPHA:540 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia, Ab... |
ORPHA:1830 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... |
ORPHA:158048 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
Takenouchi-Kosaki Syndrome |
|
Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia, Synophrys |
OMIM:616737 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Hemophagocy... |
OMIM:603553 |
Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Lysinuric Protein Intolerance |
|
Fine hair, Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Sparse hair, Hemophagocytosis |
OMIM:222700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly |
OMIM:308230 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly... |
OMIM:610377 |
Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:267700 |
Dyskeratosis Congenita, X-Linked |
|
Sparse eyelashes, Split nail, Leukopenia, Ridged nail, Nail dystrophy, Alopecia, Anemia, Pterygiu... |
OMIM:305000 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Splenomegaly |
OMIM:251880 |
Pediatric-Onset Graves Disease |
|
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:525731 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Small nail, Hypoplastic nipples, Nail dystrophy, Anemia, Thrombocytopenia |
ORPHA:261323 |
Ebola Hemorrhagic Fever |
|
Thrombocytopenia, Lymphopenia, Leukopenia |
ORPHA:319218 |
Mirage Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen |
OMIM:617053 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Thrombocytopenia, Anemia, Lymphopenia, Splenomegaly |
OMIM:617591 |
Dubowitz Syndrome |
|
Fine hair, Acute lymphoblastic leukemia, Thrombocytopenia, Low anterior hairline, Sparse lateral ... |
ORPHA:235 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrichosis, Leukopenia, Long eyelashes, Anemia, Hepatosplenomegaly, Thick hair, Thrombocytopenia |
ORPHA:505248 |
Good Syndrome |
|
Thrombocytopenia, Anemia, Abnormal leukocyte morphology |
ORPHA:169105 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Facial hypertrichosis, Scarring alopecia of scalp, Splenomegal... |
ORPHA:79277 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227645 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Nail dysplasia, Thrombocytopenia, Sparse hair, Anemia |
OMIM:612199 |
Avian Influenza |
|
Thrombocytopenia, Lymphopenia, Leukopenia |
ORPHA:454836 |
Nijmegen Breakage Syndrome |
|
Abnormal hair morphology, Low anterior hairline, Acute leukemia, Thrombocytopenia, Hemolytic anem... |
ORPHA:647 |
Aicardi-Goutieres Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:225750 |
Overlap Myositis |
|
Thrombocytopenia, Leukopenia |
ORPHA:206572 |
Fanconi Anemia, Complementation Group B |
|
Thrombocytopenia, Aplastic anemia |
OMIM:300514 |
Tangier Disease |
|
Thrombocytopenia, Nail dystrophy, Hepatosplenomegaly, Anemia |
ORPHA:31150 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:90051 |
Gaucher Disease, Perinatal Lethal |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly |
OMIM:608013 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... |
ORPHA:906 |
Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Normocytic anemia, Neutropenia |
OMIM:617941 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Fanconi Anemia, Complementation Group F |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:603467 |
Kaposiform Lymphangiomatosis |
|
Anemia, Abnormal spleen morphology, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:464329 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
Cornelia De Lange Syndrome 1 |
|
Highly arched eyebrow, Hypoplastic nipples, Hirsutism, Thrombocytopenia, Curly eyelashes, Long ey... |
OMIM:122470 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Highly arched eyebrow, Long eyelashes, Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Insulin-Resistance Syndrome Type B |
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Thrombocytopenia, Alopecia, Hirsutism, Leukopenia |
ORPHA:2298 |
Lathosterolosis |
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Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Bernard-Soulier Syndrome |
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Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... |
ORPHA:274 |
Hellp Syndrome |
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Thrombocytopenia, Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular... |
ORPHA:244242 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:90038 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
Alg12-Cdg |
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B lymphocytopenia, Low posterior hairline, Small nail, Thrombocytopenia |
ORPHA:79324 |
Farber Disease |
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Thrombocytopenia, Hepatosplenomegaly, Anemia |
ORPHA:333 |
Fanconi Anemia, Complementation Group D2 |
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Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227646 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Thrombocytopenia |
ORPHA:572798 |
Lujo Hemorrhagic Fever |
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Leukocytosis, Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:319213 |
Bacterial Toxic-Shock Syndrome |
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Thrombocytopenia, Increased circulating myelocyte count, Increased circulating metamyelocyte count |
ORPHA:36234 |
Ivic Syndrome |
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Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Nijmegen Breakage Syndrome |
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B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:251260 |
Shigellosis |
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Leukocytosis, Splenic abscess, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:810 |
Thrombocytopenia-Absent Radius Syndrome |
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Thrombocytopenia |
ORPHA:3320 |
Castleman Disease |
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Thrombocytopenia, Decreased mean corpuscular volume, Anemia |
ORPHA:160 |
Diamond-Blackfan Anemia 1 |
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Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... |
ORPHA:391487 |
Idiopathic Hypereosinophilic Syndrome |
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Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... |
ORPHA:3260 |
Gaucher Disease Type 3 |
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Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:77261 |
Immunodeficiency 47 |
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Normocytic anemia, Leukopenia, Splenomegaly, Accessory spleen, Thrombocytopenia |
OMIM:300972 |
Q Fever |
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Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly |
ORPHA:781 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia, Synophrys |
ORPHA:487796 |
Kikuchi-Fujimoto Disease |
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Neutropenia, Leukopenia, Alopecia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia |
ORPHA:50918 |
Neuroleptic Malignant Syndrome |
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Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
Fibular Hemimelia |
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Thrombocytopenia |
ORPHA:93323 |
Alport Syndrome 1, X-Linked |
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Thrombocytopenia |
OMIM:301050 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Aplasia/Hypoplasia of the nails, Anemia, Thrombocytopenia |
ORPHA:163979 |
Thrombocytopenia-Absent Radius Syndrome |
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Leukocytosis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia |
OMIM:274000 |
Stevens-Johnson Syndrome |
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Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:36426 |
Jacobsen Syndrome |
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Thrombocytopenia, Abnormal eyelash morphology |
OMIM:147791 |
Deeah Syndrome |
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Low posterior hairline, Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
Osteopetrosis With Renal Tubular Acidosis |
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Leukopenia, Anemia, Pancytopenia, Thrombocytopenia, Elliptocytosis |
ORPHA:2785 |
Toxic Epidermal Necrolysis |
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Anemia, Thrombocytopenia, Neutropenia |
ORPHA:537 |
Tick-Borne Encephalitis |
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Leukocytosis, Thrombocytopenia, Leukopenia |
ORPHA:297 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
Paroxysmal Nocturnal Hemoglobinuria |
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Leukopenia, Erythroid hyperplasia, Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hemol... |
ORPHA:447 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hypertrichosis, Thrombocytopenia, Splenomegaly, Microcytic anemia, Sparse axillary hair, Prematur... |
OMIM:256040 |
Caroli Syndrome |
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Leukocytosis, Hypersplenism, Thrombocytopenia, Leukopenia |
ORPHA:480520 |
Hepatocellular Carcinoma |
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Polycythemia, Thrombocytosis, Anemia, Thrombocytopenia |
ORPHA:88673 |
Pearson Syndrome |
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Neutropenia, Anemia, Splenomegaly, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hypoplastic s... |
ORPHA:699 |
Immunodeficiency 87 And Autoimmunity |
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Lymphopenia, Decreased proportion of CD4-positive T cells, Decreased CD4:CD8 ratio, Thrombocytope... |
OMIM:619573 |
Roberts Syndrome |
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Thrombocytopenia, Sparse hair |
ORPHA:3103 |
Rift Valley Fever |
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Thrombocytopenia, Anemia |
ORPHA:319251 |
Brucellosis |
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Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
ORPHA:1304 |
Jacobsen Syndrome |
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Thrombocytopenia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2308 |
Oculocerebrorenal Syndrome Of Lowe |
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Fine hair, Sparse scalp hair, Anemia, Thrombocytopenia |
ORPHA:534 |
Primary Sjögren Syndrome |
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Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... |
ORPHA:289390 |
Fanconi Anemia |
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Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia, Leukopenia |
ORPHA:84 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Abnormality of the spleen, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:2072 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thrombocytopenia |
ORPHA:464321 |
Marburg Hemorrhagic Fever |
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Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Lymphopenia, R... |
ORPHA:99826 |
Hemorrhagic Fever-Renal Syndrome |
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Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:340 |
Infection-Related Hemolytic Uremic Syndrome |
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Leukocytosis, Hemolytic anemia, Thrombocytopenia |
ORPHA:544482 |
Gaucher Disease |
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Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:355 |
22Q11.2 Deletion Syndrome |
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Thrombocytopenia, Hypoplasia of the thymus, Abnormality of thrombocytes, Splenomegaly |
ORPHA:567 |
Crimean-Congo Hemorrhagic Fever |
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Leukocytosis, Leukopenia, Splenomegaly, Neutrophilia, Pancytopenia, Thrombocytopenia |
ORPHA:99827 |
Lysinuric Protein Intolerance |
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Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
ORPHA:470 |
Sarcoidosis |
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Leukopenia, Increased T cell count, Alopecia, Anemia, Thrombocytopenia, Eosinophilia, Hemolytic a... |
ORPHA:797 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Thrombocytopenia, Microcytic anemia, Anemia, Splenomegaly |
OMIM:619525 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Splenomegaly, Acute promyelocytic leukemia, Hypersplenism, Autoimmune thrombocytopenia, Thrombocy... |
ORPHA:77293 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypersplenism, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:731 |
Osteogenesis Imperfecta |
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Thrombocytopenia |
ORPHA:666 |
Aicardi-Goutières Syndrome |
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Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia |
ORPHA:51 |
Hardikar Syndrome |
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Thrombocytopenia, Hepatosplenomegaly, Hypersplenism, Splenomegaly |
OMIM:301068 |
Exercise-Induced Malignant Hyperthermia |
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Thrombocytopenia |
ORPHA:466650 |
Yellow Fever |
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Leukocytosis, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Thrombocytopenia |
ORPHA:79078 |
Acute Liver Failure |
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Thrombocytopenia |
ORPHA:90062 |
Noonan Syndrome 1 |
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Low posterior hairline, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
Leptospirosis |
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Thrombocytopenia |
ORPHA:509 |
Floating-Harbor Syndrome |
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Low posterior hairline, Long eyelashes, Hirsutism |
OMIM:136140 |
Non-Specific Syndromic Intellectual Disability |
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Highly arched eyebrow, Frontal upsweep of hair |
ORPHA:528084 |
Floating-Harbor Syndrome |
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ORPHA:2044 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
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OMIM:619595 |