Muscle Cramps, Familial |
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Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
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Elevated circulating creatine kinase concentration |
OMIM:218050 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
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Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Mosaic Variegated Aneuploidy Syndrome 4 |
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Abnormality of chromosome stability |
OMIM:620153 |
Retinopathy Of Prematurity |
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Vitreous hemorrhage |
ORPHA:90050 |
Kaposiform Lymphangiomatosis |
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Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys... |
ORPHA:464329 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... |
ORPHA:3077 |
Retinal Capillary Malformation |
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Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecc... |
ORPHA:99827 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Retinoschisis 1, X-Linked, Juvenile |
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Vitreous hemorrhage |
OMIM:312700 |
Familial Acute Necrotizing Encephalopathy |
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Choroid hemorrhage, Gait disturbance |
ORPHA:88619 |
Lujo Hemorrhagic Fever |
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Shock, Excessive bleeding after a venipuncture, Myocarditis, Fulminant hepatitis, Leukocytosis, S... |
ORPHA:319213 |
Marburg Hemorrhagic Fever |
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Anorexia, Leukopenia, Lethargy, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal ble... |
ORPHA:99826 |
Adenine Phosphoribosyltransferase Deficiency |
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Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... |
ORPHA:976 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... |
OMIM:617718 |
Hemorrhagic Fever-Renal Syndrome |
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Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... |
ORPHA:340 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Leptospirosis |
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Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, Jaundice, Retinal hemo... |
ORPHA:509 |
Stormorken Syndrome |
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Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
Waldenström Macroglobulinemia |
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Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Anorexia, Abnorm... |
ORPHA:33226 |
Primary Hyperoxaluria Type 3 |
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Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Exudative Vitreoretinopathy 4 |
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Vitreous hemorrhage |
OMIM:601813 |
Eales Disease |
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Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
Juvenile Xanthogranuloma |
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Hyphema, Myeloproliferative disorder |
ORPHA:158000 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
Atelis Syndrome 2 |
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Thrombocytopenia, Dysmetria, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenos... |
OMIM:620185 |
Exudative Vitreoretinopathy 1 |
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Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... |
ORPHA:100924 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Vitreoretinochoroidopathy |
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Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization |
ORPHA:891 |
Refractory Anemia With Excess Blasts |
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Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Retinoblastoma |
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Vitreous hemorrhage, Leukemia, Hyphema, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
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Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
Persistent Hyperplastic Primary Vitreous |
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Hemorrhage of the eye |
ORPHA:91495 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
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Retinal hemorrhage |
OMIM:264420 |
Pseudoxanthoma Elasticum |
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Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin... |
OMIM:192315 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Hyphema |
OMIM:221900 |
Macular Degeneration, Age-Related, 1 |
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Macular hemorrhage |
OMIM:603075 |
Mirage Syndrome |
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Petechiae, Thrombocytopenia, Intracranial hemorrhage, Leukopenia, Hypoplastic spleen, Lymphopenia... |
OMIM:617053 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Ataxia, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Dysphagia |
ORPHA:25 |
Rift Valley Fever |
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Abnormal bleeding, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatit... |
ORPHA:319251 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Pearson Syndrome |
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Reticulocytosis, Hepatomegaly, Pancytopenia, Ataxia, Pancreatic fibrosis, Cardiac conduction abno... |
ORPHA:699 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
Phacoanaphylactic Uveitis |
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Hyphema, Retinal arteritis |
ORPHA:209959 |
Lethal Congenital Contracture Syndrome 5 |
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Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Gracile Bone Dysplasia |
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Asplenia, Hypoplastic spleen |
OMIM:602361 |
Trichinellosis |
|
Irritability, Retinal hemorrhage, Lethargy, Dysphagia |
ORPHA:863 |
Pseudoxanthoma Elasticum |
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Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Central Retinal Vein Occlusion |
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Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad-based gait, Asplenia, Inability to walk, Hyphema, Bruxism, Pulmonic stenosis, Dysphagia, Ao... |
ORPHA:261552 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Eosinophilia, Congestive heart failure, Retinal hemorrhage, Cerebral ... |
ORPHA:464 |
Retinoblastoma |
|
Vitreous hemorrhage, Leukemia |
OMIM:180200 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Familial Drusen |
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Macular hemorrhage |
ORPHA:75376 |
Microphthalmia, Syndromic 9 |
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Hypoplastic spleen, Multilobulated spleen, Pulmonic stenosis |
OMIM:601186 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Anorexia, Vitreous hemorrhage, Normochromic anemia, Reduced hematocrit |
ORPHA:91500 |
Cockayne Syndrome Type 3 |
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Hepatomegaly, Splenomegaly, Unsteady gait, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopath... |
ORPHA:90324 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Cockayne Syndrome |
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Hepatomegaly, Ataxia, Inability to walk, Splenomegaly, Retinal hemorrhage, Hypertension, Progress... |
ORPHA:191 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Retinal hemorrhage |
OMIM:308300 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... |
ORPHA:353281 |
Generalized Arterial Calcification Of Infancy |
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Transient ischemic attack, Retinal hemorrhage, Hepatic calcification, Irritability, Hypertension,... |
ORPHA:51608 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... |
ORPHA:353277 |
Pierson Syndrome |
|
Hypertension, Retinal hemorrhage |
OMIM:609049 |
Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Corneal neovasculariz... |
OMIM:175780 |