Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia |
ORPHA:169095 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
Hypotrichosis 10 |
|
Sparse body hair, Sparse eyebrow, Sparse eyelashes |
OMIM:614238 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... |
OMIM:601705 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail |
OMIM:614931 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Sea-Blue Histiocyte Disease |
|
Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:173590 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:617443 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Sparse hair, Nail dystrophy |
OMIM:300652 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy |
OMIM:158000 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hirsutism, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia |
OMIM:314050 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Hypotrichosis 12 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
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 hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair |
OMIM:234030 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Hypotrichosis 7 |
|
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... |
OMIM:604379 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy |
OMIM:211390 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Alopecia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails |
OMIM:164680 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes |
OMIM:615896 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Alopecia |
OMIM:616576 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia |
OMIM:607616 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... |
OMIM:173470 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:603552 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... |
OMIM:601399 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Hypertrichosis |
ORPHA:1063 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Omenn Syndrome |
|
Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymph... |
OMIM:603554 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly |
OMIM:610539 |
Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Specific Granule Deficiency 2 |
|
Nail dysplasia, Hirsutism, Fragile nails, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophi... |
OMIM:617475 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Bjornstad Syndrome |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:262000 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Nail pits, Premature graying of hair, Lymphopenia, Sparse hair, Alopecia, Aplastic anemia, Ridged... |
OMIM:127550 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:613101 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Splenomegaly, Leukopenia, Silver-gray hair, Abnormality of neutrophi... |
ORPHA:381 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Nail dysplasia, Alopecia, Leukopenia, Aplastic anemia, Fine hair, Pancytopenia, Premature graying... |
OMIM:613990 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Nail dystrophy, Pancytopenia |
OMIM:613987 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia |
OMIM:612783 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Thrombocytopenia, Leukopenia |
OMIM:618116 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Premature graying of hair, Generalized hypopigm... |
ORPHA:3322 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Neutropeni... |
OMIM:304790 |
Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:610333 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:54057 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Nail dysplasia, Sparse scalp hair, Pterygium of nails, Sparse eyelashes, Aplastic anemia, Nail dy... |
OMIM:224230 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Nail dysplasia, Leukopenia, Aplastic anemia, Pancytopenia, Nail dystrophy, Neutropenia, White for... |
OMIM:613989 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... |
OMIM:139090 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... |
OMIM:613011 |
Hermansky-Pudlak Syndrome 5 |
|
Albinism, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytop... |
OMIM:614074 |
Amed Syndrome, Digenic |
|
Anemia, Thrombocytopenia, Acute myeloid leukemia, Leukopenia |
OMIM:619151 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia |
ORPHA:848 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia |
ORPHA:2123 |
Transaldolase Deficiency |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
Babesiosis |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly |
ORPHA:108 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio |
OMIM:150550 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... |
ORPHA:158057 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:507 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... |
OMIM:308240 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia |
OMIM:152700 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count |
OMIM:616050 |
Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Anemia, Thrombocytopenia, Abnormal lymphocyte morphology |
ORPHA:229717 |
Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia |
ORPHA:858 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Anemia, Thrombocytopenia, Leukopenia, Macrocytic anemia |
ORPHA:27 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia, Curly hair, Sparse hair |
OMIM:619980 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:603909 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Alopecia |
ORPHA:79242 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... |
ORPHA:100026 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Hypopigmentation of hair, Im... |
OMIM:214500 |
Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Cog4-Cdg |
|
Thick hair, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:263501 |
Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259710 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... |
ORPHA:3226 |
Rhabdoid Tumor |
|
Anemia, Thrombocytopenia |
ORPHA:69077 |
X-Linked Agammaglobulinemia |
|
Alopecia, Anemia, Thrombocytopenia, Neutropenia |
ORPHA:47 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Low anterior hairline, Splenomegaly, Leukopenia, Coarse hair, Long eyelashes, Synophry... |
OMIM:617303 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:398124 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Alopecia |
OMIM:253270 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... |
OMIM:301078 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Prolidase Deficiency |
|
Facial hirsutism, Splenomegaly, Anemia, Thrombocytopenia, Low posterior hairline |
OMIM:170100 |
Congenital Rubella Syndrome |
|
Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:290 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612926 |
Lig4 Syndrome |
|
Thrombocytopenia, Pancytopenia |
OMIM:606593 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells |
OMIM:618048 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Fair hair, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, ... |
OMIM:608233 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Thrombocytopenia |
OMIM:611209 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Small nail, Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Fetal Gaucher Disease |
|
Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia |
ORPHA:85212 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612922 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Transaldolase Deficiency |
|
Splenomegaly, Hepatosplenomegaly, Synophrys, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:606003 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Adams-Oliver Syndrome |
|
Sparse hair, Alopecia, Leukopenia, Absent fingernail, Hypoplastic fingernail, Thrombocytopenia, A... |
ORPHA:974 |
Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Coarse hair, Thrombocytopenia, Pancytopenia, Fine hair, Neutropenia, Anemia, Abnorma... |
OMIM:242900 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Curly hair |
OMIM:616638 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Absent eyebrow, Alopecia, Splenomegaly, Hemolytic anemia, Loss of eyelashes, Thro... |
OMIM:263700 |
Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... |
ORPHA:86839 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia |
OMIM:619644 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
Kasabach-Merritt Syndrome |
|
Hypertrichosis, Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anem... |
ORPHA:2330 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
Tularemia |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:3392 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612925 |
Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:91547 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
Propionic Acidemia |
|
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:606054 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... |
ORPHA:158061 |
Noonan Syndrome 4 |
|
High anterior hairline, Thrombocytopenia, Curly hair, Sparse eyebrow |
OMIM:610733 |
Congenital Enterovirus Infection |
|
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:292 |
Gaucher Disease, Type I |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:230800 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Anemia, Thrombocytopenia, Leukopenia |
OMIM:613845 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:93552 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Thrombocytopenia |
ORPHA:231111 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:520 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:251110 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Hepatoportal Sclerosis |
|
Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hypersplenism |
ORPHA:64743 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Thrombocytopenia |
OMIM:608104 |
Felty Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:47612 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc... |
OMIM:614700 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:274150 |
Blue Rubber Bleb Nevus |
|
Thrombocytopenia, Iron deficiency anemia |
OMIM:112200 |
Lysosomal Acid Lipase Deficiency |
|
Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Bone-marrow foam cells, H... |
OMIM:278000 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Premature graying of hair, Sparse hair, Splenomegaly, Alopecia, Abno... |
ORPHA:1775 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:99828 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia |
OMIM:222300 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hirsutism, Leukopenia, Thrombocytopenia, Small nail |
OMIM:301056 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:614576 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:251100 |
Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia |
OMIM:277380 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:90060 |
Mogs-Cdg |
|
Hirsutism, Fair hair, Alopecia, Hepatosplenomegaly, Long eyelashes, Thrombocytopenia |
ORPHA:79330 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... |
ORPHA:79124 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Thrombocytopenia, Lymphopenia, Decreased eosinophil count |
ORPHA:2686 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:259700 |
Pseudo-Torch Syndrome 3 |
|
Anemia, Congenital thrombocytopenia, Leukocytosis |
OMIM:618886 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Highly arched eyebrow, Abnormal hair pattern |
ORPHA:261250 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... |
ORPHA:167 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sacral hypertrichosis, Thrombocytopenia, Highly arched eyebrow, Broad eyebrow |
ORPHA:457351 |
Fanconi Anemia, Complementation Group E |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:600901 |
Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
Wilson Disease |
|
Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:905 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:235400 |
Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:508542 |
Snakebite Envenomation |
|
Thrombocytopenia |
ORPHA:449285 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:540 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Fanconi Anemia, Complementation Group A |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227650 |
Alg8-Cdg |
|
Anemia, Thrombocytopenia |
ORPHA:79325 |
Gaucher Disease Type 1 |
|
Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism |
ORPHA:77259 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Coarse hair, Thrombocytopenia |
OMIM:612394 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Low anterior hairline, Persistence of hemoglobin ... |
ORPHA:124 |
Lysinuric Protein Intolerance |
|
Sparse hair, Hemophagocytosis, Splenomegaly, Leukopenia, Fine hair, Anemia, Thrombocytopenia |
OMIM:222700 |
Takenouchi-Kosaki Syndrome |
|
Sparse eyebrow, Increased mean platelet volume, Synophrys, Thrombocytopenia, Highly arched eyebrow |
OMIM:616737 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... |
ORPHA:158048 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... |
OMIM:603553 |
Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Nail dysplasia, Anemia, Thrombocytopenia, Sparse hair |
OMIM:612199 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... |
OMIM:612541 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Splenomegaly |
OMIM:251880 |
Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hypoplastic nipples, Nail dystrophy, Anemia, Thrombocytopenia, Small nail |
ORPHA:261323 |
Mevalonic Aciduria |
|
Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia |
OMIM:267700 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... |
ORPHA:811 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Dyskeratosis Congenita, X-Linked |
|
Pterygium of nails, Premature graying of hair, Split nail, Alopecia, Sparse eyelashes, Leukopenia... |
OMIM:305000 |
Pediatric-Onset Graves Disease |
|
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly |
ORPHA:525731 |
Mirage Syndrome |
|
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia |
OMIM:617053 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly |
OMIM:617591 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
Osteopetrosis, Autosomal Recessive 5 |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypochromic microcy... |
OMIM:259720 |
Dubowitz Syndrome |
|
Sparse scalp hair, Hypoplastic toenails, Low anterior hairline, Thrombocytopenia, Abnormal finger... |
ORPHA:235 |
Avian Influenza |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:454836 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Pancytope... |
OMIM:557000 |
Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:251290 |
Fanconi Anemia, Complementation Group C |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227645 |
Good Syndrome |
|
Abnormal leukocyte morphology, Anemia, Thrombocytopenia |
ORPHA:169105 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thick hair, Hypertrichosis, Leukopenia, Hepatosplenomegaly, Long eyelashes, Anemia, Thrombocytopenia |
ORPHA:505248 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Anisocytosis, Leukopenia, Scarring alopecia of scalp, Facial hypertrichosis, Hemoly... |
ORPHA:79277 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia |
OMIM:208085 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
Catastrophic Antiphospholipid Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia |
ORPHA:464343 |
Nijmegen Breakage Syndrome |
|
Abnormal hair morphology, Low anterior hairline, Abnormal hair quantity, Hemolytic anemia, Autoim... |
ORPHA:647 |
Fanconi Anemia, Complementation Group B |
|
Thrombocytopenia, Aplastic anemia |
OMIM:300514 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... |
ORPHA:906 |
Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
ORPHA:2307 |
Aicardi-Goutieres Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:225750 |
Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:90051 |
Tangier Disease |
|
Anemia, Thrombocytopenia, Nail dystrophy, Hepatosplenomegaly |
ORPHA:31150 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:608013 |
Overlap Myositis |
|
Leukopenia, Thrombocytopenia |
ORPHA:206572 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Fanconi Anemia, Complementation Group F |
|
Anemia, Thrombocytopenia, Leukopenia |
OMIM:603467 |
Cornelia De Lange Syndrome 1 |
|
Hirsutism, Curly eyelashes, Hypoplastic nipples, Long eyelashes, Synophrys, Thrombocytopenia, Hig... |
OMIM:122470 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Thrombocytopenia |
OMIM:619743 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Long eyelashes, Decreased hemoglobin concentration, Thrombocytopenia, Highly arched eyebrow |
OMIM:619005 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Anemia, Thrombocytopenia |
ORPHA:464329 |
Insulin-Resistance Syndrome Type B |
|
Hirsutism, Leukopenia, Thrombocytopenia, Alopecia |
ORPHA:2298 |
Alg12-Cdg |
|
Thrombocytopenia, Low posterior hairline, B lymphocytopenia, Small nail |
ORPHA:79324 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Lymphopenia, Sparse hair, Severe B lymphocytopenia, Accessory spleen, Anemia, Thrombocytopenia |
OMIM:620005 |
Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Normocytic anemia, Neutropenia |
OMIM:617941 |
Farber Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:333 |
Hellp Syndrome |
|
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... |
ORPHA:244242 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:90038 |
Fanconi Anemia, Complementation Group D2 |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227646 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:277400 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia |
ORPHA:36234 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Leukocytosis |
ORPHA:319213 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:251260 |
Immunodeficiency 47 |
|
Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Thrombocytopenia |
OMIM:300972 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... |
ORPHA:391487 |
Shigellosis |
|
Splenic abscess, Microangiopathic hemolytic anemia, Thrombocytopenia, Leukocytosis |
ORPHA:810 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Sparse eyebrow, Increased mean platelet volume, Synophrys, Thrombocytopenia, Highly arched eyebrow |
ORPHA:487796 |
Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... |
OMIM:105650 |
Castleman Disease |
|
Decreased mean corpuscular volume, Anemia, Thrombocytopenia |
ORPHA:160 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... |
ORPHA:3260 |
Gaucher Disease Type 3 |
|
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:77261 |
Kikuchi-Fujimoto Disease |
|
Lymphocytosis, Splenomegaly, Alopecia, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:50918 |
Q Fever |
|
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:781 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Thrombocytopenia, Leukocytosis |
ORPHA:94093 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Thrombocytopenia, Aplasia/Hypoplasia of the nails |
ORPHA:163979 |
Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia, Low posterior hairline |
OMIM:619004 |
Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Anemia, Thrombocytopenia |
ORPHA:36426 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Jacobsen Syndrome |
|
Abnormal eyelash morphology, Thrombocytopenia |
OMIM:147791 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia |
ORPHA:79282 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:2785 |
Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:537 |
Tick-Borne Encephalitis |
|
Leukopenia, Thrombocytopenia, Leukocytosis |
ORPHA:297 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia, A... |
ORPHA:447 |
Wilson Disease |
|
Hemolytic anemia, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:277900 |
Aicardi-Goutieres Syndrome 7 |
|
Splenomegaly, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:615846 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertrichosis, Sparse axillary hair, Splenomegaly, Microcytic anemia, Premature graying of hair,... |
OMIM:256040 |
Pearson Syndrome |
|
Neutropenia, Splenomegaly, Reticulocytosis, Hypoplastic spleen, Pancytopenia, Anemia, Thrombocyto... |
ORPHA:699 |
Ogden Syndrome |
|
Sparse eyebrow, Polycythemia, Iron deficiency anemia, Long eyelashes, Fine hair, Thrombocytopenia |
OMIM:300855 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly |
OMIM:301072 |
Rift Valley Fever |
|
Anemia, Thrombocytopenia |
ORPHA:319251 |
Caroli Syndrome |
|
Leukopenia, Thrombocytopenia, Leukocytosis, Hypersplenism |
ORPHA:480520 |
Hepatocellular Carcinoma |
|
Polycythemia, Thrombocytosis, Anemia, Thrombocytopenia |
ORPHA:88673 |
Roberts Syndrome |
|
Thrombocytopenia, Sparse hair |
ORPHA:3103 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Thrombocytopenia, Hemolytic anemia, Decreased proportion of CD4-positive T cells, Au... |
OMIM:619573 |
Brucellosis |
|
Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, Thrombocytopenia, Hypersplenism |
ORPHA:1304 |
Jacobsen Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Thrombocytopenia |
ORPHA:2308 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Anemia, Thrombocytopenia, Fine hair |
ORPHA:534 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia |
ORPHA:464321 |
Primary Sjögren Syndrome |
|
Lymphopenia, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:289390 |
Hemorrhagic Fever-Renal Syndrome |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:340 |
Fanconi Anemia |
|
Anemia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia, Leukopenia |
ORPHA:84 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:2072 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R... |
ORPHA:99826 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Thrombocytopenia, Leukocytosis |
ORPHA:544482 |
22Q11.2 Deletion Syndrome |
|
Abnormality of thrombocytes, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly |
ORPHA:567 |
Gaucher Disease |
|
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:355 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia |
ORPHA:470 |
Sarcoidosis |
|
Alopecia, Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell ... |
ORPHA:797 |
Crimean-Congo Hemorrhagic Fever |
|
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Pancytopenia, Thrombocytopenia |
ORPHA:99827 |
Liver Disease, Severe Congenital |
|
Lymphocytosis, Splenomegaly, Leukopenia, Dry hair, Nail dystrophy, Anemia, Thrombocytopenia |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Thrombocytopenia, Anemia, Microcytic anemia, Splenomegaly |
OMIM:619525 |
Hardikar Syndrome |
|
Hepatosplenomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly |
OMIM:301068 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopenia, Acute promyelocytic leukemia, Hypers... |
ORPHA:77293 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly |
ORPHA:731 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia |
ORPHA:51 |
Osteogenesis Imperfecta |
|
Thrombocytopenia |
ORPHA:666 |
Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Woolly hair, Amegakaryocytic thrombocytopenia, Low posterior ha... |
OMIM:163950 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
Yellow Fever |
|
Thrombocytopenia, Neutrophilia, Leukocytosis |
ORPHA:99829 |
Acute Liver Failure |
|
Thrombocytopenia |
ORPHA:90062 |
Digeorge Syndrome |
|
Hypoplasia of the thymus, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:188400 |
Leptospirosis |
|
Thrombocytopenia |
ORPHA:509 |
Floating-Harbor Syndrome |
|
Generalized hypertrichosis, Hirsutism, Long eyelashes, Low posterior hairline |
OMIM:136140 |
Non-Specific Syndromic Intellectual Disability |
|
Frontal upsweep of hair, Highly arched eyebrow |
ORPHA:528084 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
|
OMIM:619595 |
Floating-Harbor Syndrome |
|
|
ORPHA:2044 |