Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Retinitis Pigmentosa 29 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Familial Cervical Artery Dissection |
|
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:36382 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Abetal34V Amyloidosis |
|
Somatic sensory dysfunction, Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, ... |
ORPHA:324703 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Paresthesia,... |
ORPHA:90064 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Dural Sinus Malformation |
|
Intracranial hemorrhage, Abnormality of vision, Ataxia, Parkinsonism, Vascular dilatation, Somati... |
ORPHA:97339 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... |
OMIM:619705 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Blindness, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Optic Atrophy 1 |
|
Ataxia, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Pallor, Centrocecal sc... |
OMIM:165500 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, Gait disturbance, Myoclonus |
ORPHA:324708 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Abnormal visual field test, Transient ischemic attack, Ataxia, Parkinsonism,... |
ORPHA:140989 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis |
OMIM:603285 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Dyschromatopsia,... |
OMIM:612989 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level |
OMIM:193670 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Parkinsonism, Cerebral hemorrhage, Arterial stenosis, Intracranial hem... |
ORPHA:136 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Stroke, Impair... |
OMIM:182410 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Stroke, Spasticity |
ORPHA:542310 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Sandhoff Disease |
|
Blindness, Ataxia, Congestive heart failure, Cherry red spot of the macula, Failure to thrive |
ORPHA:796 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... |
ORPHA:94080 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... |
ORPHA:49827 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Leber Congenital Amaurosis 14 |
|
Nyctalopia, Reduced visual acuity, Photophobia, Falls, Pallor, Congenital blindness |
OMIM:613341 |
Methanol Poisoning |
|
Blindness, Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atria... |
ORPHA:31825 |
Wyburn-Mason Syndrome |
|
Cerebral palsy, Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Cerebral he... |
ORPHA:53719 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ar... |
OMIM:604250 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... |
OMIM:301082 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Vitreous hemorrhage, Blindness, Small for gestational age |
ORPHA:90050 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... |
OMIM:618459 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Constriction of peripheral visual field, Myocardial infarction, Cerebral hemorrhage, Congestive h... |
ORPHA:90065 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Sneddon Syndrome |
|
Tremor, Chorea, Arterial stenosis, Visual field defect, Intracranial hemorrhage, Hypertension, He... |
ORPHA:820 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Blindness, Severe short stature, Ataxia, Abnormal atrioventricular ... |
ORPHA:3208 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Splenomegaly, Anem... |
OMIM:603552 |
Peripheral Cone Dystrophy |
|
Pericentral scotoma, Paracentral scotoma, Pallor, Visual impairment |
OMIM:609021 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart fa... |
ORPHA:163596 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Increased circulating I... |
ORPHA:277 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Blindness, Cerebral palsy, Subarachnoid hemorrhag... |
ORPHA:853 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Parkinsonism, Reduced visual acuity, Concentric hypertrophic cardiomyopathy, Abnormali... |
OMIM:204200 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... |
ORPHA:98826 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Gait disturbance, Pallor |
ORPHA:79283 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia |
OMIM:616022 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Photopsia, Amblyopia, Vitreous floaters, Hyphema, Reduced visual acuity, Vitre... |
ORPHA:71213 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Myopia, Medial calcification of large arteries, Angina pectoris, Pre... |
OMIM:177850 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... |
OMIM:619752 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Blindness, Incoordination, Ataxia, Visual loss, Dysmetria, Gait a... |
OMIM:601338 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Visual field defect,... |
ORPHA:231160 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613500 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Pontocerebellar Hypoplasia, Type 14 |
|
Simplified gyral pattern, Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Simplified gyral pattern, Anemia, Chronic neutropenia |
OMIM:619302 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic dysarthria, Pseudobulbar pa... |
OMIM:606353 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Blindness, Ataxia, Tremor, Visual loss, Chorea, Progressive visual field defects, Unsteady gait, ... |
ORPHA:79263 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Clonus, Cerebral visual impairment, Intraventricular hemorrhage, Spast... |
OMIM:619055 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Spasticity, Severely reduced visual acuity |
OMIM:309555 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Neutropenia |
OMIM:616949 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness, Spasticity |
ORPHA:85336 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... |
OMIM:601457 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Absent circulating B cells, Rec... |
OMIM:620282 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Nyctalopia, Spastic paraplegia, Small for gestational age |
OMIM:300076 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Gait dist... |
ORPHA:216873 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Visual loss, Blindness, Ataxia |
OMIM:610951 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Hemiplegia, Spastic tetraplegia, Growth delay |
OMIM:614483 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marr... |
OMIM:301078 |
Cone-Rod Dystrophy 11 |
|
Photophobia, Pallor, Slow decrease in visual acuity |
OMIM:610381 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Abnorma... |
OMIM:300845 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... |
OMIM:615513 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Slc35A1-Cdg |
|
Prolonged bleeding time, Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thr... |
ORPHA:238459 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardiogenic shock, E... |
ORPHA:449285 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Ataxia, Vascular granular osmiophilic material deposition, Progressive visual loss, My... |
OMIM:256730 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Retinitis Pigmentosa 51 |
|
Nyctalopia, Reduced visual acuity, Obesity, High myopia, Photophobia, Pallor, Visual impairment |
OMIM:613464 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness, Spastic paraplegia |
OMIM:302700 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Behr Syndrome |
|
Blindness, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive... |
OMIM:210000 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Leukodystrophy, Hypomyelinating, 14 |
|
Growth delay, Blindness, Spasticity |
OMIM:617899 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... |
OMIM:618108 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb... |
OMIM:308230 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Bietti Crystalline Dystrophy |
|
Blindness, Constriction of peripheral visual field, Large central visual field defect, Central sc... |
ORPHA:41751 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly, Growth delay, Pallor, Hypertrophic cardiomyopathy |
OMIM:613561 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Myopia, Short stature, Pallor, Visual impairment |
ORPHA:2786 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... |
OMIM:241600 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time |
OMIM:608404 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... |
ORPHA:276621 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
Narp Syndrome |
|
Abnormal visual field test, Blindness, Constriction of peripheral visual field, Ataxia, Short sta... |
ORPHA:644 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA... |
OMIM:603909 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Blindness, Reduced visual acuity |
OMIM:601553 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Failur... |
OMIM:263400 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... |
ORPHA:33110 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Splenomegaly, Hyperammonemia, Cardiomyopathy, Neutropenia, Pancreatitis, Anemia |
ORPHA:79312 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
Alpers-Huttenlocher Syndrome |
|
Blindness, Ataxia, Paraparesis, Abnormality of vision, Choreoathetosis, Myoclonus, Progressive sp... |
ORPHA:726 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Nyctalopia, Abnormal pyramidal sign, Dysmetria, Dysdiadoc... |
ORPHA:96 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness, Hemiplegia, Hemiparesis |
OMIM:609634 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired A... |
OMIM:155100 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Tremor, Gait disturbance, Pallor, Arrhythmia |
ORPHA:29822 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Pallor |
ORPHA:71518 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, H... |
ORPHA:848 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Chorea, Erythema, Endocard... |
ORPHA:3099 |
Retinitis Pigmentosa 59 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Intrauterine growth r... |
OMIM:613861 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Blindness, Chorea, Gait disturbance |
OMIM:607674 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... |
ORPHA:47 |
Cataract 11, Multiple Types |
|
Hypertonia, Blindness, Chorea |
OMIM:610623 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr... |
OMIM:603585 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Ataxia, Pallor |
OMIM:500007 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor, Weight loss |
ORPHA:517 |
Retinitis Pigmentosa 35 |
|
Blindness, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re... |
OMIM:601495 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myocarditis, Hepatitis... |
ORPHA:292 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Decreased serum thromboxane B2 |
OMIM:614158 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Blindness, Ataxia, Tremor, Visual loss, Upper motor neuron dysfunction, Sl... |
ORPHA:206443 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Nyctalopia, Reduced visual acuity, Truncal obesity, Spasticity, Childhood-onset truncal obesity |
OMIM:610156 |
Infantile Refsum Disease |
|
Constriction of peripheral visual field, Ataxia, Short stature, Nyctalopia, Spasticity, Cardiomyo... |
ORPHA:772 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Cardiomyopathy, Tubulo... |
OMIM:251000 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness |
OMIM:610612 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abscess, Eosinophilia, Eczema, Allerg... |
OMIM:615816 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... |
ORPHA:98850 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Cln3 Disease |
|
Blindness, Extrapyramidal muscular rigidity, Ataxia, Amblyopia, Bradykinesia, T-wave inversion, P... |
ORPHA:228346 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Sarcosinemia |
|
Ataxia, Tetraparesis, Pulmonic stenosis, Congenital blindness, Hypertrophic cardiomyopathy |
ORPHA:3129 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, ... |
ORPHA:398124 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired ristocetin-indu... |
OMIM:614201 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Neu... |
OMIM:209920 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Sorsby Fundus Dystrophy |
|
Blindness |
OMIM:136900 |
Retinitis Pigmentosa 73 |
|
Ring scotoma, Constriction of peripheral visual field, Photopsia, Central scotoma, Nyctalopia, Bl... |
OMIM:616544 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... |
OMIM:615234 |
Retinitis Pigmentosa 27 |
|
Blindness, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Visual imp... |
OMIM:613750 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... |
ORPHA:29072 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a... |
ORPHA:1959 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Tachycardia, Increased body weight, Pallor |
ORPHA:276608 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Reduced visual acuity, Abnormality of extrapyramidal motor functio... |
OMIM:258501 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Blindness, Ataxia |
OMIM:551500 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Large central visual field defect, Visual loss, Nyctalopia, Severely reduced visual ac... |
ORPHA:59181 |
Early-Onset X-Linked Optic Atrophy |
|
Central scotoma, Babinski sign, Reduced visual acuity, Gait ataxia, Choreoathetosis, Dysdiadochok... |
ORPHA:98890 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Hemiparesis, Arter... |
ORPHA:624 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Increased circulating inosine concentration, Autoimmune hemolytic anemia, Si... |
OMIM:613179 |
Hydranencephaly |
|
Blindness, Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation ... |
ORPHA:2177 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Retinitis Pigmentosa 18 |
|
Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Scotoma |
OMIM:601414 |
Congenital Stationary Night Blindness |
|
Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund... |
ORPHA:215 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Visual loss, Weight loss, Intracranial hemorrhage, Pallor, Bruising susc... |
ORPHA:3226 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect |
OMIM:304020 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Newfoundland Rod-Cone Dystrophy |
|
Nyctalopia, Scotoma, Visual impairment, Color vision defect |
OMIM:607476 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Large central visual field defect, Blindness, Parkinsonism, Poor motor coordination,... |
ORPHA:79264 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Abnormal pyramidal sign, Reduced visual acuity, Dysmetria, Impaired distal... |
OMIM:618438 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Petechiae |
OMIM:617397 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Anemia, Arth... |
ORPHA:47612 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... |
ORPHA:824 |
Cone-Rod Dystrophy 24 |
|
Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio... |
OMIM:620342 |
Propionic Acidemia |
|
Pancytopenia, Eczema, Thrombocytopenia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Hy... |
OMIM:606054 |
Menkes Disease |
|
Short stature, Babinski sign, Cutis laxa, Intracranial hemorrhage, Hypertonia, Intrauterine growt... |
OMIM:309400 |
Central Areolar Choroidal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity, Slow decrease in visual acuity, Dyschromatopsia, ... |
ORPHA:75377 |
Choroideremia |
|
Myopia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment |
ORPHA:180 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Acut... |
ORPHA:486 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat... |
ORPHA:397596 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Retinitis Pigmentosa 78 |
|
Reduced visual acuity, Nyctalopia, Photopsia, Visual field defect |
OMIM:617433 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness |
OMIM:268010 |
Retinitis Pigmentosa 4 |
|
Blindness, Visual field defect, Reduced visual acuity, Nyctalopia |
OMIM:613731 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Usher Syndrome Type 3 |
|
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia |
ORPHA:231183 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Cerebral palsy, Ventricular septal defect, Epistaxis, Cerebral visual im... |
ORPHA:369929 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Abnormal heart morphology, Growth delay, Intrauterine growth retarda... |
ORPHA:79284 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia |
OMIM:617056 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Retinitis Pigmentosa 80 |
|
Blindness, Progressive visual loss, Nyctalopia |
OMIM:617781 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... |
OMIM:618204 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... |
ORPHA:99931 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... |
ORPHA:436159 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Cone-Rod Dystrophy 12 |
|
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect |
OMIM:612657 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Poikiloderma With Neutropenia |
|
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent pneumonia,... |
OMIM:604173 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Ataxia, Cerebral visual impairment, Hydrocephalus, Meni... |
OMIM:614424 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Color vision ... |
OMIM:616732 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Severe Canavan Disease |
|
Blindness, Inability to walk, Babinski sign, Decerebrate rigidity, Spasticity |
ORPHA:314911 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Br... |
ORPHA:1163 |
Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... |
ORPHA:849 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Usher Syndrome Type 1 |
|
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia |
ORPHA:231169 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased circulating IgM ... |
OMIM:616005 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,... |
ORPHA:37042 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Impaired T cell function, Minimal change glomerulonephritis, Thrombocy... |
ORPHA:1830 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Nyctalopia, Failure to thrive, Gastrointestinal hemorrhage |
ORPHA:79301 |
Leber Congenital Amaurosis 16 |
|
Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment |
OMIM:614186 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Retinitis Pigmentosa 11 |
|
Blindness, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia |
OMIM:600138 |
Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... |
ORPHA:49566 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:617099 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... |
ORPHA:88 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Hydrocephalus, Anemia, Intrauterine growth retardation, Thrombocytopenia |
ORPHA:858 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Bronchiectasis, Simplified gyral pattern, Hyperammonemia, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Optic Pathway Glioma |
|
Blindness, Visual loss, Hydrocephalus, Reduced visual acuity, Visual field defect, Growth delay |
ORPHA:2086 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... |
OMIM:614069 |
Leber Congenital Amaurosis 1 |
|
Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Growth delay |
OMIM:204000 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular ... |
ORPHA:98870 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, El... |
OMIM:615559 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Hemiparesis |
ORPHA:398189 |
Bothnia Retinal Dystrophy |
|
Large central visual field defect, Ring scotoma, Central scotoma, Nyctalopia, Visual field defect... |
ORPHA:85128 |
Leber Congenital Amaurosis 4 |
|
Blindness, Reduced visual acuity, Nyctalopia |
OMIM:604393 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Short stature, Intraventricular hemorrhage, Erythema, Telang... |
ORPHA:420741 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Congestive heart failure, Recurrent pneumonia, Increased circulat... |
OMIM:617303 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Reduced visual acuity, Dysme... |
OMIM:611302 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Thrombocytopenia, Congestive heart... |
ORPHA:508542 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Visual impairment, Severely reduced visual acuity |
OMIM:613794 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity |
OMIM:616079 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease... |
OMIM:619510 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Failure to thrive, Blindness, Poor coordination, Gait disturbance |
OMIM:250940 |
Cerebral Visual Impairment |
|
Cerebral palsy, Hydrocephalus, Visual field defect, Intracranial hemorrhage, Clumsiness, Ischemic... |
ORPHA:447788 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Short stature, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairme... |
OMIM:617675 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Thrombocytopenia, Abnorma... |
OMIM:242900 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Krabbe Disease |
|
Blindness, Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spasticity, Failure to th... |
OMIM:245200 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Spasticity, Gait distu... |
OMIM:125250 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ... |
OMIM:618394 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m... |
OMIM:617475 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leu... |
ORPHA:507 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Cone Rod Dystrophy |
|
Photophobia, Nyctalopia, Visual impairment, Color vision defect |
ORPHA:1872 |
Usher Syndrome, Type Iiia |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:276902 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Stillbirth, Neonatal death, Hypertonia |
ORPHA:85212 |
Cone-Rod Dystrophy 8 |
|
Blindness, Nyctalopia, Peripheral visual field loss, Photophobia, Retinal arteriolar constriction... |
OMIM:605549 |
Leber Congenital Amaurosis 2 |
|
Photophobia, Blindness, Reduced visual acuity, Nyctalopia |
OMIM:204100 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Myopia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Amblyopia, Retinal arteriolar tort... |
OMIM:175780 |
Spinocerebellar Ataxia Type 7 |
|
Blindness, Somatic sensory dysfunction, Ataxia, Congestive heart failure, Visual loss, Babinski s... |
ORPHA:94147 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Cavitary Optic Disc Anomalies |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:611543 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Blindness, Ring scotoma, Ataxia, Broad-based gait, Nyctalopia, Impaired vibration sensation in th... |
OMIM:609033 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... |
OMIM:619693 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, Reduced natura... |
OMIM:608233 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Retinitis Pigmentosa 3 |
|
Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my... |
OMIM:300029 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... |
ORPHA:90068 |
Bazex Syndrome |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Retinal Cone Dystrophy 3B |
|
Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:610356 |
Cach Syndrome |
|
Blindness, Spastic diplegia, Limb ataxia, Dysmetria, Hemiparesis, Growth delay, Truncal ataxia, I... |
ORPHA:135 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Retinitis Pigmentosa 1 |
|
Myopia, Constriction of peripheral visual field, Scotoma, Nyctalopia, Reduced visual acuity |
OMIM:180100 |
Osteogenesis Imperfecta |
|
Loss of ambulation, Ataxia, Short stature, Rhizomelia, Gait disturbance, Umbilical hernia, Aortic... |
ORPHA:666 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Nyctalopia, Photophobia, Progressive visual loss, Color ... |
OMIM:613660 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Myopia, Lower limb spasticity, Ataxia, Postural tremor, Head tituba... |
OMIM:615491 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Peroxisome Biogenesis Disorder 9B |
|
Constriction of peripheral visual field, Ataxia, Nyctalopia, Reduced visual acuity, Cardiomyopathy |
OMIM:614879 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Thrombocyt... |
ORPHA:391673 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Nyctalopia, Reduced visual acuity, Tritanomaly, Visual impairment |
OMIM:615147 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Meningioma |
|
Bitemporal hemianopia, Blindness, Hemifacial spasm, Abnormal central motor function, Ataxia, Cere... |
ORPHA:2495 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Splenomegaly, Congestive heart failure, Cardiomyopathy, Pallor, Arrhyt... |
ORPHA:3386 |
Macular Dystrophy, Patterned, 1 |
|
Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity |
OMIM:169150 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... |
OMIM:618652 |
Retinitis Pigmentosa 92 |
|
Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field, Visual impairment |
OMIM:619614 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Congestive heart... |
OMIM:269920 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Blindness, Ataxia, Myoclonus, Spasticity |
OMIM:618225 |
Hsd10 Disease, Infantile Type |
|
Blindness, Spastic tetraparesis, Cardiomegaly, Visual loss, Poor coordination, Spastic diplegia, ... |
ORPHA:391428 |
Refsum Disease |
|
Ataxia, Heart block, Hemiplegia/hemiparesis, Nyctalopia, Abnormal pyramidal sign, Abnormality of ... |
ORPHA:773 |
Isolated Atp Synthase Deficiency |
|
Blindness, Ataxia, Short stature, Dilated cardiomyopathy, Spastic paraplegia, Tetraplegia, Arrhyt... |
ORPHA:254913 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Myopia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature, Subdural hemorrh... |
ORPHA:536545 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Blindness, Ataxia, Spastic tetraparesis, Myelopathy, Inability to walk, Ho... |
ORPHA:139396 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Macular Dystrophy, Retinal, 4 |
|
Nyctalopia, Reduced visual acuity |
OMIM:619977 |
Retinitis Pigmentosa 68 |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:615725 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness |
ORPHA:2787 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Blindness, Ventricular septal defect, Ataxia, Small for gestational age, Inability to walk, Intra... |
ORPHA:79243 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Retinitis Pigmentosa |
|
Blindness, Obesity, Photophobia, Progressive night blindness, Visual impairment |
ORPHA:791 |
Factor V Deficiency |
|
Prolonged bleeding time, Prolonged prothrombin time |
OMIM:227400 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Blindness, Hypertonia, Gait disturbance, Hyperkinetic movements, Failure to thrive |
OMIM:236270 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat... |
OMIM:231200 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Tay-Sachs Disease |
|
Blindness, Exaggerated startle response, Hypertonia, Pallor, Cherry red spot of the macula |
OMIM:272800 |
Retinitis Pigmentosa 85 |
|
Progressive night blindness, Reduced visual acuity |
OMIM:618345 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Medulloblastoma |
|
Ataxia, Hydrocephalus, Cerebellar hemorrhage, Diplopia, Dysmetria, Progressive cerebellar ataxia,... |
ORPHA:616 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Somatic sensory dysfunction, Peripheral arteriovenous fistula, Subarachnoid he... |
ORPHA:90307 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Hy... |
ORPHA:811 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Familial Focal Epilepsy With Variable Foci |
|
Paresthesia, Pallor |
ORPHA:98820 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
Chromosome Xq21 Deletion Syndrome |
|
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss, Obesity |
OMIM:303110 |
Cone-Rod Dystrophy 21 |
|
Photophobia, Nyctalopia, Reduced visual acuity |
OMIM:616502 |
Retinitis Pigmentosa 62 |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:614181 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Elevated circulating creatine kinase concentration,... |
OMIM:242840 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Usher Syndrome |
|
Myopia, Blindness, Ataxia, Nyctalopia, Abnormal cardiovascular system physiology, Visual field de... |
ORPHA:886 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... |
OMIM:214500 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat... |
ORPHA:90033 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Nyctalopia, Redundant skin, Cutis laxa |
ORPHA:436274 |
Fanconi Anemia, Complementation Group I |
|
Myopia, Ventricular septal defect, Short stature, Pallor, Decreased body weight, Atrial septal de... |
OMIM:609053 |
Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Superficial Siderosis |
|
Abnormal bleeding, Ataxia, Subarachnoid hemorrhage, Impaired temperature sensation, Impaired pain... |
ORPHA:247245 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Broad-based gait, Head titubation, Reduced visual acuity, Gait ataxia, Truncal ataxia, Arrhythmia... |
OMIM:620208 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic oral candidias... |
OMIM:615387 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Central scoto... |
OMIM:312600 |
Nephronophthisis 15 |
|
Blindness, Obesity |
OMIM:614845 |
Night Blindness, Congenital Stationary, Type 1C |
|
Congenital stationary night blindness, Myopia, Dry skin, Reduced visual acuity |
OMIM:613216 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Broad-based gait, Ataxia, Clonus, Unsteady gait, Abnormal pyramidal sign, Reduced visual acuity, ... |
OMIM:616479 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Failure to thrive, Short stature |
OMIM:616430 |
Leber Congenital Amaurosis 3 |
|
Visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:604232 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Bone marrow hypocellularity, N... |
OMIM:613989 |
Cone-Rod Dystrophy 2 |
|
Blindness, Metamorphopsia, Constriction of peripheral visual field, Central scotoma, Nyctalopia, ... |
OMIM:120970 |
Late-Onset Retinal Degeneration |
|
Visual loss, Adult-onset night blindness, Scotoma |
OMIM:605670 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Increased ... |
ORPHA:2169 |
Retinitis Pigmentosa 17 |
|
Photophobia, Nyctalopia, Color vision defect |
OMIM:600852 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph... |
ORPHA:51636 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyram... |
ORPHA:397946 |
Retinitis Pigmentosa 19 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment |
OMIM:601718 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance, Spastici... |
ORPHA:216866 |
Bardet-Biedl Syndrome 21 |
|
Myopia, Blindness, Constriction of peripheral visual field, Overweight, Obesity |
OMIM:617406 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hemiparesis, Hypertension, Arteriosclerosis, Cerebral ischem... |
ORPHA:494424 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a... |
OMIM:600462 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Red... |
OMIM:314050 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thro... |
OMIM:613839 |
Morm Syndrome |
|
Photophobia, Progressive night blindness, Truncal obesity, Visual impairment |
ORPHA:75858 |
Myopathic Ehlers-Danlos Syndrome |
|
Myopia, Failure to thrive, Tip-toe gait, Pallor |
ORPHA:536516 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Congestive heart failure, Nyctalopia, Cardiomy... |
OMIM:266500 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... |
OMIM:301000 |
Mirage Syndrome |
|
Short stature, Hydrocephalus, Patent ductus arteriosus, Paraplegia, Intracranial hemorrhage, Decr... |
OMIM:617053 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Leukocytosis, Anemia, Leukopenia, Neutropen... |
ORPHA:520 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Blindness, Epistaxis, Hematochezia, Cardiomyopathy, Photophobia, Gingiva... |
OMIM:203300 |
Retinal Cone Dystrophy 3A |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Retinitis Pigmentosa 63 |
|
Nyctalopia, Blurred vision |
OMIM:614494 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage, Blindness, Reduced visual acuity |
OMIM:601813 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Fleck Retina, Familial Benign |
|
Nyctalopia, Visual impairment |
OMIM:228980 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... |
OMIM:603554 |
Gm1 Gangliosidosis |
|
Blindness, Ventricular septal defect, Ataxia, Short stature, Tremor, Congestive heart failure, Pa... |
ORPHA:354 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Cone-Rod Dystrophy 16 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Progressive visual loss |
OMIM:614500 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Spl... |
ORPHA:829 |
Retinitis Pigmentosa 79 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:617460 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
Retinitis Pigmentosa 76 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:617123 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Growth ... |
OMIM:253250 |
Abetalipoproteinemia |
|
Cardiomegaly, Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, St... |
ORPHA:14 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, B ... |
OMIM:602450 |
Fundus Albipunctatus |
|
Nyctalopia, Fundus albipunctatus |
OMIM:136880 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Tarp Syndrome |
|
Failure to thrive, Subdural hemorrhage, Athetosis, Neonatal death, Atrial septal defect, Intraute... |
OMIM:311900 |
Retinitis Pigmentosa 69 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:615780 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Impa... |
OMIM:229300 |
Hellp Syndrome |
|
Cerebral hemorrhage, Increased body weight, Prolonged prothrombin time, Hypotension, Internal hem... |
ORPHA:244242 |
Bardet-Biedl Syndrome 3 |
|
Nyctalopia, Tricuspid regurgitation, Obesity, Visual impairment |
OMIM:600151 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Blindness, Unsteady gait, Gait disturbance, Spasticity |
OMIM:603896 |
Retinitis Pigmentosa 75 |
|
Myopia, Nyctalopia, Pallor, Peripheral visual field loss |
OMIM:617023 |
Adrenoleukodystrophy |
|
Blindness, Incoordination, Visual loss, Paraparesis, Spastic paraplegia, Slurred speech, Limb ata... |
OMIM:300100 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Blindness, Ataxia, Visual loss, Inability to walk, Reduced visual acuity, Vascular granul... |
ORPHA:168491 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Blindness, Ataxia, Short stature, Retinal telangiectasia, Tremor, Postnatal growth retardation, A... |
OMIM:612199 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Bradycardia, Intrauterine growth retardation, Hypertrophic ca... |
OMIM:614702 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Failure to thrive, Stillbirth, Disproportionate short-limb short stature |
OMIM:241500 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Visual impairment |
OMIM:613758 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Blindness, Myopia, Clonus, Hydrocephalus, Abnormal pyramidal sign, Cardi... |
ORPHA:370959 |
Retinitis Pigmentosa 7 |
|
Nyctalopia, Constriction of peripheral visual field, Adult-onset night blindness |
OMIM:608133 |
Night Blindness, Congenital Stationary, Type 1F |
|
Congenital stationary night blindness, Nyctalopia, Reduced visual acuity, High myopia |
OMIM:615058 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
X-Linked Immunoneurologic Disorder |
|
Hemiplegia/hemiparesis, Nyctalopia, Hypertonia |
ORPHA:2571 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness, Ataxia |
OMIM:271250 |
Arachnoid Cyst |
|
Encephalocele, Subarachnoid hemorrhage, Inability to walk, Diplopia, Hydrocephalus, Slurred speec... |
ORPHA:2356 |
Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Short stature, Moderately reduced visual acuity, Visual acuity light perception wi... |
ORPHA:2788 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Blindness, Cachexia, Visual loss, Spastic diplegia, Opisthotonus, Abnormal... |
ORPHA:206436 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Tachycardia, Elevated circulating C-reactive p... |
ORPHA:90051 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Neutropenia, Polymicrogyria, Thrombocytopenia |
OMIM:614520 |
Retinitis Pigmentosa 61 |
|
Nyctalopia, Visual impairment |
OMIM:614180 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Congestive heart failure, Vasculitis, Retinal hem... |
ORPHA:33226 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu... |
ORPHA:300298 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness, Clonus, Cardiomegaly, Tetraplegia, Spasticity |
ORPHA:3137 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele, Hemiparesis |
ORPHA:2481 |
Microphthalmia, Isolated 5 |
|
Photophobia, High hypermetropia, Nyctalopia, Reduced visual acuity |
OMIM:611040 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... |
ORPHA:98849 |
Retinitis Pigmentosa 90 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:619007 |
Choroideremia |
|
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss, Visual impairment |
OMIM:303100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Retinitis Pigmentosa 30 |
|
Nyctalopia, Visual impairment |
OMIM:607921 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly |
ORPHA:56425 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Blindness, Ventricular septal defect, Small for gestational age, Severe postnatal growth retardat... |
ORPHA:3078 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Retinitis Pigmentosa 38 |
|
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss |
OMIM:613862 |
Retinitis Pigmentosa 70 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:615922 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural ... |
ORPHA:25 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Blindness, Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Atrial ... |
OMIM:603387 |
Retinitis Pigmentosa 54 |
|
Nyctalopia, Visual impairment |
OMIM:613428 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Small for gestati... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Small for gestati... |
ORPHA:363958 |
Tsh-Secreting Pituitary Adenoma |
|
Bitemporal hemianopia, Abnormal visual field test, Blindness, Supraventricular arrhythmia, Perica... |
ORPHA:91347 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... |
ORPHA:2131 |
3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Retinitis Pigmentosa 32 |
|
Photophobia, Nyctalopia, Reduced visual acuity |
OMIM:609913 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Blindness, Impaired vibration sensation in the lower limbs, Gait ata... |
ORPHA:95433 |
Sandhoff Disease |
|
Orthostatic hypotension, Blindness, Ataxia, Exaggerated startle response, Impaired temperature se... |
OMIM:268800 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Increased mean platelet volume, Myocar... |
ORPHA:182050 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... |
OMIM:300908 |
3-Methylglutaconic Aciduria, Type Viib |
|
Congestive heart failure, Recurrent pneumonia, Leukopenia, Prolonged prothrombin time, Neutropeni... |
OMIM:616271 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Nyctalopia |
OMIM:618632 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Cardiomegaly |
OMIM:608836 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Hyperhom... |
OMIM:277380 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma |
OMIM:618913 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Reduced visual acuity, Clumsiness... |
OMIM:617282 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal ... |
ORPHA:79282 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... |
ORPHA:228119 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Impaired pl... |
OMIM:601399 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myopia, Visual loss, Nyctalopia, Photophobia, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:5 |
Retinitis Pigmentosa |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:268000 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Opisthotonus, Prolonged prothrombin time, Gi... |
ORPHA:335 |
Rhabdoid Tumor |
|
Cerebral palsy, Weight loss, Hypertension, Hemiplegia, Internal hemorrhage |
ORPHA:69077 |
Usher Syndrome, Type Iid |
|
Nyctalopia |
OMIM:611383 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Xfe Progeroid Syndrome |
|
Blindness, Severe short stature, Cachexia, Poor coordination, Dry skin, Hypertension, Failure to ... |
OMIM:610965 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
Leber Congenital Amaurosis 9 |
|
Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia... |
OMIM:608553 |
Pituitary Apoplexy |
|
Bitemporal hemianopia, Abnormal static automated perimetry test, Diplopia, Reduced visual acuity,... |
ORPHA:95613 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... |
OMIM:194380 |
Prolactinoma |
|
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... |
ORPHA:2965 |
Usher Syndrome, Type Iv |
|
Nyctalopia, Constriction of peripheral visual field, Ring scotoma |
OMIM:618144 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:90308 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Pa... |
OMIM:615966 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time, Spinal dysraphism |
ORPHA:1114 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Tremor, Increased body weight, Pallor |
ORPHA:263455 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time |
OMIM:185050 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Bardet-Biedl Syndrome 4 |
|
Nyctalopia, Obesity |
OMIM:615982 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Nyctalopia, Hydrocephalus, Obesity, Oculomotor apraxia |
OMIM:615630 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Progressive visual loss, Progressive ... |
ORPHA:414 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... |
ORPHA:86839 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Weight loss, Hypertension, Pallor, Extrapyramidal dyskinesia, Hypotension, Spasticity |
ORPHA:134 |
Microphthalmia-Brain Atrophy Syndrome |
|
Blindness, Spasticity |
ORPHA:77299 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Blindness, Ataxia, Central scotoma, Gait ataxia, Hypertonia, Spasticity, Failure to thrive, Visua... |
ORPHA:543470 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Nyctalopia, Constriction of peripheral visual field, Hypermetropia |
OMIM:267760 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Retinitis Pigmentosa 28 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:606068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Myopia, Blindness, Hydrocephalus |
OMIM:615181 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Bitemporal hemianopia, Diplopia, Hydrocephalus, Slow decrease in visual acuity, Intracranial hemo... |
ORPHA:91350 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... |
OMIM:619644 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Rec... |
ORPHA:293978 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Reduced visual acuity, Menorrhagia, B... |
OMIM:614076 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Reduced visual acuity, Gingival bleeding, Br... |
OMIM:614072 |
Non-Functioning Pituitary Adenoma |
|
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... |
ORPHA:91349 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Chorea, Arterial stenosis, Intracranial hemorr... |
ORPHA:565 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
Senior-Loken Syndrome 8 |
|
Vascular dilatation, Pallor, Reduced visual acuity, Visual impairment |
OMIM:616307 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... |
ORPHA:324636 |
Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... |
OMIM:256550 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Visual impairment, Nyctalopia |
OMIM:258870 |
Tempi Syndrome |
|
Intracranial hemorrhage, Facial erythema, Telangiectasia |
ORPHA:284227 |
Friedreich Ataxia |
|
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Reduced visual acuity, Dysmetr... |
ORPHA:95 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperammonemia, Arrhythmia, Neutropenia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:615471 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Alstrom Syndrome |
|
Blindness, Constriction of peripheral visual field, Short stature, Congestive heart failure, Visu... |
OMIM:203800 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Short stature, Congenital hypop... |
OMIM:105650 |
Bothnia Retinal Dystrophy |
|
Nyctalopia |
OMIM:607475 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, Hydrocephalu... |
OMIM:261740 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Cardiac arrest, Spastic hemiparesis, Dilated cardiomyopathy, Weight loss, Prolonged proth... |
ORPHA:20 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Retinitis Pigmentosa 9 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:180104 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Blindness, Failure to thrive, Ataxia, Myoclonus |
OMIM:560000 |
Cohen Syndrome |
|
Myopia, Small for gestational age, Short stature, Nyctalopia, Reduced visual acuity, Mitral valve... |
OMIM:216550 |
Tay-Sachs Disease |
|
Blindness, Incoordination, Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Cl... |
ORPHA:845 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Myopia, Nyctalopia, Hypertonia |
ORPHA:1390 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Hydrocephalus |
OMIM:613603 |
Canavan Disease |
|
Blindness, Hypertonia, Visual impairment |
ORPHA:141 |
Kcnq2-Related Epileptic Encephalopathy |
|
Inability to walk, Poor gross motor coordination, Pallor, Facial erythema |
ORPHA:439218 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Gout, Hypertension, ... |
OMIM:232240 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... |
OMIM:212140 |
Retinitis Pigmentosa 71 |
|
Nyctalopia |
OMIM:616394 |
Retinitis Pigmentosa 50 |
|
Nyctalopia, Reduced visual acuity |
OMIM:613194 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... |
ORPHA:544482 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Visual loss, Nyctalopia, Impaired vibration sensation in the lower li... |
ORPHA:88628 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Myopia, Pulmonary embolism, Amblyopia, Hemiplegia/hemiparesis, Intra... |
ORPHA:394 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Anemia, Cardiomegaly |
OMIM:618838 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia |
OMIM:277350 |
Infantile Neuroaxonal Dystrophy |
|
Blindness, Ataxia, Spastic tetraparesis, Unsteady gait, Abnormal pyramidal sign, Gait disturbance... |
ORPHA:35069 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Unsteady gait, Fetal intraventricular hemorrhage, Spasticity, Limb hypertonia |
OMIM:618480 |
Retinitis Pigmentosa 40 |
|
Nyctalopia |
OMIM:613801 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,... |
OMIM:251900 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Blindness, Abnormal cerebral vascular morphology, Pulmonary embolism... |
ORPHA:3205 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Short stature, Hydrocephalus, Visual impairment |
ORPHA:53 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Joint hemorrhage, Thrombocytop... |
OMIM:277480 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Blindness, Ataxia, Hydrocephalus, Visual impairment |
ORPHA:2318 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Gout, Hypertension, Inflammation of the large intestine, Hyperurice... |
OMIM:232220 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, T lymphocytopenia, Recurrent otitis m... |
OMIM:607944 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Nyctalopia, Short stature |
OMIM:616108 |
Usher Syndrome Type 2 |
|
Myopia, Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia |
ORPHA:231178 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Nyctalopia |
OMIM:179840 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Congenital blindness, Severe short-limb dwarfism |
ORPHA:436182 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Incoordination, Short stature, Poor fine motor coordinat... |
ORPHA:436245 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Parkinsonism, Rigidity, Nyctalopia, Slurred speech, Peripheral visual field loss, Visu... |
ORPHA:157850 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... |
OMIM:300280 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Thrombocytopenia, Sple... |
ORPHA:50918 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytos... |
ORPHA:36238 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Neutropenia |
OMIM:620012 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251100 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Persistence of h... |
OMIM:617052 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Short stature, Nyctalopia, Abnormal vena cava morphology, Heart murmur... |
ORPHA:166035 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Blindness, Hydrocephalus, Abnormal heart morphology |
OMIM:601499 |
Retinitis Pigmentosa 12 |
|
High hypermetropia, Nyctalopia, Reduced visual acuity |
OMIM:600105 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Subdural hemorrhage |
OMIM:618291 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Constriction of peripheral visual field, Blindness, Short stature, Nyctalopia, V... |
OMIM:300578 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Photophobia, Ecchymosis, Internal hemorr... |
ORPHA:99827 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Hemiplegia, Growth delay, Subarachnoid hemorrhage |
OMIM:243700 |
Isolated Complex I Deficiency |
|
Blindness, Ataxia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:2609 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Increased RBC distribution width, Epistaxis... |
OMIM:187900 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Short stature, Postnatal growth retardation, Nyctalopia, Im... |
ORPHA:96180 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Mucopolysaccharidosis Type 3 |
|
Myopia, Blindness, Constriction of peripheral visual field, Ataxia, Vocal cord paresis, Cardiomeg... |
ORPHA:581 |
Retinitis Pigmentosa 89 |
|
Nyctalopia, Constriction of peripheral visual field, Bicuspid aortic valve |
OMIM:618955 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruisi... |
OMIM:185070 |
Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... |
ORPHA:723 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Blindness, Ataxia, Myocardial in... |
ORPHA:117 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Idiopathic Hypereosinophilic Syndrome |
|
Somatic sensory dysfunction, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary em... |
ORPHA:3260 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Skin rash, Microcytic anemia |
ORPHA:1059 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Retinitis Pigmentosa 6 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:312612 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Retinitis Pigmentosa 66 |
|
Constriction of peripheral visual field, Central scotoma, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615233 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time |
OMIM:188025 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular necrosis, Reduced left ventricul... |
OMIM:201475 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:33364 |
Nelson Syndrome |
|
Bitemporal hemianopia, Striae distensae, Slow decrease in visual acuity, Intracranial hemorrhage,... |
ORPHA:199244 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature |
OMIM:616507 |
Canavan Disease |
|
Blindness, Abnormal pyramidal sign, Visual impairment, Opisthotonus |
OMIM:271900 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Lack of skin elasticity, Shuf... |
ORPHA:740 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Short stature, Central scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Truncal obesity |
OMIM:617547 |
Osteopetrosis, Autosomal Recessive 1 |
|
Blindness, Hydrocephalus, Facial paralysis, Failure to thrive, Visual impairment |
OMIM:259700 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Telangiectasia of the skin, Skin rash, Neutropenia, Leukemia, Malar ... |
ORPHA:2909 |
Myopathy, Tubular Aggregate, 1 |
|
Nyctalopia, Frequent falls |
OMIM:160565 |
Sheehan Syndrome |
|
Orthostatic hypotension, Diplopia, Progressive visual field defects, Obesity, Palpitations, Brady... |
ORPHA:91355 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial se... |
OMIM:306955 |
Jalili Syndrome |
|
Scotoma, Nyctalopia, Monochromacy, Photophobia, High hypermetropia, Visual impairment |
OMIM:217080 |
Cinca Syndrome |
|
Growth delay, Blindness, Visual impairment, Purpura |
ORPHA:1451 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Short stature, Pure red cell aplasia, Erythroi... |
ORPHA:124 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Tremor, Hydrocephalus, Pulmonary artery stenosis, Growth del... |
ORPHA:667 |
Joubert Syndrome 35 |
|
Oculomotor apraxia, Nyctalopia, Ataxia, Progressive visual loss |
OMIM:618161 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Lymphopenia |
OMIM:617827 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... |
ORPHA:464329 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Stargardt Disease |
|
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect |
ORPHA:827 |
Retinitis Pigmentosa 88 |
|
Nyctalopia, Reduced visual acuity |
OMIM:618826 |
Weill-Marchesani Syndrome 2 |
|
Blindness, Ventricular septal defect, Short stature, Proportionate short stature, Congestive hear... |
OMIM:608328 |
Gm1 Gangliosidosis Type 1 |
|
Blindness, Exaggerated startle response, Cherry red spot of the macula, Cardiomyopathy, Abnormali... |
ORPHA:79255 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Asparagine Synthetase Deficiency |
|
Blindness, Exaggerated startle response, Clonus, Cerebral visual impairment, Tremor, Spastic tetr... |
OMIM:615574 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus, Unsteady gait, Loss of ... |
OMIM:616682 |
Gm2-Gangliosidosis, Ab Variant |
|
Blindness, Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyrami... |
OMIM:272750 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Blindness |
OMIM:618731 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Growth delay, Anemic pallor, Anemia |
ORPHA:329971 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc... |
ORPHA:73263 |
Prothrombin Deficiency, Congenital |
|
Prolonged bleeding time, Prolonged prothrombin time |
OMIM:613679 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Myopia, Short stature, Nyctalopia, High myopia, Hypertension |
OMIM:617763 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Diap... |
OMIM:232300 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ventricular septal defect, Ataxia, Short stature,... |
OMIM:614947 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia, Recurrent otitis ... |
OMIM:612562 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Visual loss, Abnormal left ventricular function, Cardiomyopat... |
ORPHA:892 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Short stature, Cachexia, Telangiectasia, Intracranial hemorrhage, Arteriovenous ... |
ORPHA:109 |
Retinitis Pigmentosa 84 |
|
Nyctalopia, Visual acuity no light perception |
OMIM:618220 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Constriction of peripheral visual field, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Reduc... |
OMIM:618527 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Blindness, Ventricular septal defect, Patent ductus arteriosus, High myopia, Atrial septal defect |
OMIM:220500 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Blindness, Short stature |
ORPHA:1573 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intraut... |
OMIM:617713 |
Lowry-Wood Syndrome |
|
Short stature, Small for gestational age, Nyctalopia, Peripheral visual field loss, Intrauterine ... |
OMIM:226960 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Asbestos Intoxication |
|
Malignant mesothelioma, Lung adenocarcinoma |
ORPHA:2302 |
Xq21 Microdeletion Syndrome |
|
Ataxia, Postnatal growth retardation, Reduced visual acuity, Peripheral visual field loss, Gait a... |
ORPHA:1435 |
Leigh Syndrome |
|
Eczema, Congestive heart failure, Neutropenia, Hyperalaninemia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:506 |
Adenohypophysitis |
|
Orthostatic hypotension, Diplopia, Progressive visual field defects, Pallor, Blurred vision |
ORPHA:95512 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Blindness, Extrapyramidal muscular rigidity, Ataxia, Somatic sensory dysfunction,... |
ORPHA:67036 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Amblyopia, Reduced visual acuity, Photopho... |
OMIM:614075 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Atrial fibrillation, Keratitis, Splenomegaly, Congestive heart failure, Neutropenia... |
ORPHA:525731 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Epistaxis, Hyperlipidemia, Enterocolitis, Gout, Ulcera... |
ORPHA:79259 |
Cranioectodermal Dysplasia 4 |
|
Short stature, Nyctalopia, Hypermetropia, Cutis laxa, Visual impairment |
OMIM:614378 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Abnormal heart morphology, Anemia,... |
OMIM:600901 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Full Nf2-Related Schwannomatosis |
|
Blindness, Somatic sensory dysfunction, Amblyopia, Visual loss, Myelopathy, Diplopia, Hydrocephal... |
ORPHA:637 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Cardiomegaly, Postnatal growth retardation, Hypertension, Pulmonary arterial hyper... |
OMIM:613320 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Blindness, Ataxia |
ORPHA:713 |
Cartilage-Hair Hypoplasia |
|
Heart block, Decreased circulating antibody level, Cardiomyopathy, Hypocalcemia, Neutropenia, Anemia |
ORPHA:175 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Dpagt1-Cdg |
|
Prolonged QT interval, Ataxia, Akinesia, Tremor, Inability to walk, Nyctalopia, Stroke-like episo... |
ORPHA:86309 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Prolonged prothrombin time, Microangiopathic hemol... |
ORPHA:2330 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... |
OMIM:557000 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hyp... |
OMIM:603903 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal... |
ORPHA:3318 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Cardiac conduction abnormality, Hypomagnesemia, Thrombocytopenia, ... |
ORPHA:699 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Psoriasiform dermatitis, Abnormal T cell subset distribution, Decreased... |
ORPHA:221139 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk... |
OMIM:227645 |
Retinitis Pigmentosa 14 |
|
Nyctalopia, Constriction of peripheral visual field, Retinal arteriolar constriction, Reduced vis... |
OMIM:600132 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... |
OMIM:620133 |
Panhypophysitis |
|
Orthostatic hypotension, Diplopia, Progressive visual field defects, Pallor, Blurred vision |
ORPHA:95513 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Yellow Fever |
|
Shock, Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Eleva... |
ORPHA:99829 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Abnormal heart morphology, Anemia,... |
OMIM:227650 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Short stature, Hydrocephalus, Patent ductus arteriosus, Heart murmur, ... |
ORPHA:163979 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity |
ORPHA:440727 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Ataxia, Nyctalopia, Poor coordination, Reduced visual acuity, Peripheral visual field los... |
OMIM:209900 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Aplastic anemia, Telangiectasia, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of vision, Blindness, Short stature, Skin ulcer |
ORPHA:1806 |
Weill-Marchesani Syndrome 1 |
|
Blindness, Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus a... |
OMIM:277600 |
Retinitis Pigmentosa 83 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Vitreous floaters |
OMIM:618173 |
White-Sutton Syndrome |
|
Myopia, Blindness, Incoordination, Short stature, Obesity, Hypermetropia, Abnormal heart morpholo... |
ORPHA:468678 |
Retinitis Pigmentosa 60 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Peripheral visual fie... |
OMIM:613983 |
Retinitis Pigmentosa 72 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia |
OMIM:616469 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Short stature, Hydrocephalus, Patent ductus arteriosus, Reticulocyto... |
OMIM:227646 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Pallor |
ORPHA:348 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Hypertonia, Subdural hemorrhage, Short stature |
OMIM:619714 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Non-24-Hour Sleep-Wake Syndrome |
|
Blindness |
ORPHA:73267 |
Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Neonatal death, ... |
OMIM:608013 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Unsteady gait, Subdural hemorrhage, Retinal hemorrhage, Hyperm... |
ORPHA:90324 |
Chromosome 16Q12 Duplication Syndrome |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly |
OMIM:619649 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Orthostatic hypotension, Somatic sensory dysfunction, Subarachnoid ... |
ORPHA:139417 |
Alg12-Cdg |
|
Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... |
ORPHA:79324 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Tetraplegia, Blindness, Ataxia, Visual impairment |
ORPHA:1187 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, D... |
OMIM:620005 |
Idiopathic Panuveitis |
|
Blindness, Vitreous floaters, Reduced visual acuity, Abnormality of vision, Photophobia, Blurred ... |
ORPHA:280921 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Blindness, Tricuspid regurgitation, Severe short stature, Amblyopia, Visual loss, Hydrocephalus, ... |
ORPHA:2556 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness |
OMIM:204850 |
Osteopetrosis, Autosomal Recessive 2 |
|
Blindness, Facial paralysis, Hydrocephalus |
OMIM:259710 |
Cone-Rod Dystrophy 6 |
|
Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Photophobia, Hemeralopia, Progre... |
OMIM:601777 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Anemia, Conjunctivitis, Neutropenia, Pancreati... |
ORPHA:537 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurr... |
OMIM:251260 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Myopia, Blindness, Severe short stature, Amblyopia, Rigidity, Visual loss, Skin ulcer, Abnormalit... |
ORPHA:2526 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... |
OMIM:616897 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
ORPHA:2741 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Blindness, Short stature |
OMIM:617914 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa... |
OMIM:208000 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Intrauterine ... |
ORPHA:158687 |
Mucoepithelial Dysplasia, Hereditary |
|
Blindness, Cor pulmonale, Melena, Photophobia, Corneal neovascularization |
OMIM:158310 |
Esophageal Atresia |
|
Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Coarctation o... |
ORPHA:1199 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein concentration, Skin... |
OMIM:612852 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Prolonged bleeding time, Myositis, S... |
ORPHA:809 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardio... |
OMIM:614921 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Epistaxis, Reduced visual acuity, Menorrhagia, Bruising susceptibility |
OMIM:614073 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Visual loss, Blindness |
ORPHA:171844 |
Fumarase Deficiency |
|
Failure to thrive, Perimembranous ventricular septal defect, Pallor, Visual impairment |
OMIM:606812 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Blindness, Ataxia, Babinski sign, Concentric hypertrophic cardiomyopathy, Spasticity, Growth dela... |
OMIM:252010 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Blindness, Ataxia, Visual loss, Diplopia, Skin ulcer, Photophobia, Hemipares... |
ORPHA:68 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Splenomegaly, Patent ductus... |
OMIM:602782 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
Hermansky-Pudlak Syndrome 8 |
|
Myopia, Epistaxis, Excessive bleeding after a venipuncture, Moderate hypermetropia, Reduced visua... |
OMIM:614077 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Joubert Syndrome 6 |
|
Oculomotor apraxia, Blindness, Ataxia |
OMIM:610688 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Herpes Simplex Virus Stromal Keratitis |
|
Blindness, Reduced visual acuity |
ORPHA:137599 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Blindness, Short stature |
ORPHA:79107 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia, Pulmonary arterial hypertension, Mitral steno... |
ORPHA:163956 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Incontinentia Pigmenti |
|
Short stature, Erythema, Retinal hemorrhage, Pallor, Spasticity |
OMIM:308300 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Cardiomy... |
ORPHA:465508 |
Retinitis Pigmentosa 77 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:617304 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Hydrocephalus, Renal tubular epithelial necrosis, Cardio... |
ORPHA:228308 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision |
ORPHA:566 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Large central visual field defect, Abnormal heart valve morphology, ... |
ORPHA:580 |
Retinitis Pigmentosa 49 |
|
Nyctalopia, Reduced visual acuity, Peripheral visual field loss |
OMIM:613756 |
Leber Congenital Amaurosis 15 |
|
Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia... |
OMIM:613843 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Tachycardia, Ventricular septal defect, Congenital hypoplastic anemia... |
OMIM:619488 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... |
OMIM:301074 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Myopia, Blindness, Congestive heart failure, Arterial rupture, Exces... |
OMIM:225400 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Momo Syndrome |
|
Blindness, Short stature, Obesity, Large for gestational age |
ORPHA:2563 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Pallor |
ORPHA:64280 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis, Neutropenia |
ORPHA:79430 |
Webb-Dattani Syndrome |
|
Blindness, Short stature, Obesity, Spasticity |
OMIM:615926 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Pain insensitivity, Ataxia, Incoordination... |
ORPHA:90062 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... |
OMIM:300855 |
Rodrigues Blindness |
|
Blindness, Short stature |
OMIM:268320 |
Retinitis Pigmentosa 10 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:180105 |
Stickler Syndrome, Type I |
|
Myopia, Blindness, Mitral valve prolapse |
OMIM:108300 |
Cone-Rod Dystrophy 10 |
|
Photophobia, Nyctalopia, Progressive visual loss, Peripheral visual field loss |
OMIM:610283 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
OMIM:164900 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Reduced visual acuity, High myopia, Paracentral scotoma,... |
OMIM:210370 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Short stature |
ORPHA:90795 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia in presence of anti-ne... |
ORPHA:228426 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Nyctalopia, ... |
ORPHA:217085 |
Leprosy |
|
Blindness, Epistaxis, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Pene... |
ORPHA:548 |
Dermatoosteolysis, Kirghizian Type |
|
Nyctalopia, Skin ulcer |
ORPHA:1657 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, A... |
OMIM:193400 |
Retinitis Pigmentosa 58 |
|
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity |
OMIM:613617 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Nyctalopia, ... |
ORPHA:217093 |
Retinitis Pigmentosa 13 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:600059 |
Cogan Syndrome |
|
Aortic regurgitation, Blindness, Vasculitis, Reduced visual acuity, Large vessel vasculitis, Phot... |
ORPHA:1467 |
Cerebrooculonasal Syndrome |
|
Blindness |
ORPHA:66625 |
Retinitis Punctata Albescens |
|
Central scotoma, Nyctalopia, Progressive visual field defects, Peripheral visual field loss, Phot... |
ORPHA:52427 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
17Q11 Microdeletion Syndrome |
|
Blindness, Abnormal central motor function, Telangiectasia of the skin, Short stature, Abnormal i... |
ORPHA:97685 |
Persistent Hyperplastic Primary Vitreous |
|
Blindness, Hemorrhage of the eye, Reduced visual acuity, Amblyopia |
ORPHA:91495 |
Acute Zonal Occult Outer Retinopathy |
|
Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Visua... |
ORPHA:284454 |
Momo Syndrome |
|
Blindness, Obesity |
OMIM:157980 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Retinitis Pigmentosa 25 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field |
OMIM:602772 |
Retinitis Pigmentosa 56 |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:613581 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Myelopathy, Splenomegaly, Congestive heart fail... |
OMIM:252500 |
Arima Syndrome |
|
Blindness, Ataxia, Growth delay, Hypertension, Occipital meningocele |
OMIM:243910 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Myopia, Nyctalopia, Blurred vision, Unsteady gait, Reduced visual acuity, Peripheral visual field... |
ORPHA:364055 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Hydrocephalus, Mitral valve prola... |
OMIM:245600 |
Retinitis Pigmentosa 41 |
|
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity |
OMIM:612095 |
Late-Onset Retinal Degeneration |
|
Red-green dyschromatopsia, Visual loss, Nyctalopia, Photophobia, Abnormal best corrected visual a... |
ORPHA:67042 |
Fuchs Endothelial Corneal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity |
ORPHA:98974 |
Aica-Ribosiduria |
|
Congenital blindness |
ORPHA:250977 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Night Blindness, Congenital Stationary, Type 1B |
|
Hemeralopia, Myopia, Nyctalopia, Congenital stationary night blindness |
OMIM:257270 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Eczema, Neutropenia |
OMIM:617799 |
Mucopolysaccharidosis, Type Iiid |
|
Short stature, Nyctalopia, Asymmetric septal hypertrophy, Mitral regurgitation, Difficulty walkin... |
OMIM:252940 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Retinitis Pigmentosa 43 |
|
Nyctalopia, Peripheral visual field loss, Visual impairment |
OMIM:613810 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Intrauterine... |
OMIM:617022 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Congenital blindness |
OMIM:608688 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... |
ORPHA:96191 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Nyctalopia, Reduced visual acuity |
OMIM:618195 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dry skin, Petechiae |
OMIM:230000 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Achromatopsia 2 |
|
Nyctalopia, Reduced visual acuity, Photophobia, Hemeralopia, Achromatopsia |
OMIM:216900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Blindness, Myopia, Meningoencephalocele, Hydrocephalus |
OMIM:236670 |
Retinitis Pigmentosa 45 |
|
Nyctalopia, Peripheral visual field loss |
OMIM:613767 |
Plasminogen Deficiency, Type I |
|
Blindness, Hydrocephalus |
OMIM:217090 |
Corneodermatoosseous Syndrome |
|
Severe short stature, Nyctalopia, Erythema, Photophobia, Hemeralopia |
ORPHA:3194 |
Bardet-Biedl Syndrome 20 |
|
Constriction of peripheral visual field, Nyctalopia, Obesity, Hypermetropia, Hemeralopia, Atrial ... |
OMIM:619471 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Myopia, Blindness, Spastic paraplegia, Short stature |
ORPHA:847 |
Joubert Syndrome 5 |
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Occipital encephalocele, Ataxia, Reduced visual acuity, Oculomotor apraxia, Congenital blindness |
OMIM:610188 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborr... |
ORPHA:83617 |
Stickler Syndrome |
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Myopia, Blindness, Short stature, Cachexia, Hemiplegia/hemiparesis, Mitral valve prolapse, Arrhyt... |
ORPHA:828 |
Dysosteosclerosis |
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Blindness, Facial paralysis, Disproportionate short stature |
OMIM:224300 |
Leukocyte Adhesion Deficiency Type Ii |
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Neutrophilia, Severe periodontitis, Abnormal isohemagglutinin level, Microcytic anemia, Keratitis... |
ORPHA:99843 |
Mogs-Cdg |
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Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... |
ORPHA:79330 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Umbilical hernia, Cardiomegaly |
OMIM:618143 |
Witteveen-Kolk Syndrome |
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Branchial fistula, Poor motor coordination, Small for gestational age, Short stature, Obesity, Hy... |
OMIM:613406 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Nyctalopia, Short stature, Ventricular septal defect, Peripheral visual field loss |
OMIM:250410 |
3-Methylglutaconic Aciduria, Type Viii |
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Bradycardia, Neutropenia |
OMIM:617248 |
Mccune-Albright Syndrome |
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Blindness |
OMIM:174800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Blindness, Hydrocephalus, Anencephaly, Spas... |
OMIM:615287 |
Dermatomyositis |
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Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma |
ORPHA:221 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Thrombocytopenia,... |
OMIM:619991 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Myopia, Hydrocephalus, Pallor, Myoclonus, Spasticity |
OMIM:253280 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Constriction of peripheral visual field, Ventricular septal defect, Failure to thrive in infancy,... |
OMIM:619418 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
Cystinosis, Nephropathic |
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Blindness, Failure to thrive in infancy, Short stature, Reduced visual acuity, Weight loss, Photo... |
OMIM:219800 |
Retinitis Pigmentosa 86 |
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Nyctalopia, Progressive visual loss |
OMIM:618613 |
Multiple Endocrine Neoplasia Type 2 |
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Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... |
ORPHA:99889 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Renpenning Syndrome 1 |
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Blindness, Ventricular septal defect, Short stature, Situs inversus totalis, Hypermetropia, Atria... |
OMIM:309500 |
Sponastrime Dysplasia |
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Recurrent pneumonia, Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
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Photophobia, Blindness |
OMIM:148210 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Mucosal telangiectasiae, Cardiomegaly |
ORPHA:2463 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Gastroin... |
ORPHA:95455 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Cryptococcosis |
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Abnormality of vision, Blindness, Hydrocephalus |
ORPHA:1546 |
Aicardi-Goutières Syndrome |
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Short stature, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Raynaud phenomenon, Chronic ly... |
ORPHA:51 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Aspartylglucosaminuria |
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Mitral regurgitation, Vacuolated lymphocytes, Acne, Neutropenia |
OMIM:208400 |
Pierson Syndrome |
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Hypertension, Blindness, Retinal hemorrhage, High myopia |
OMIM:609049 |
Bohring-Opitz Syndrome |
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Short stature, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Intrauterine growth... |
ORPHA:97297 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Short stature, Nyctalopia, Hydrocephalus, Abdominal obesity, Intrauterine growth retardation |
OMIM:619321 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Short stature, Cardiomegaly, Microcytic anemia, Splenomegaly, Congestive heart fail... |
OMIM:256040 |
Fraser Syndrome 1 |
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Encephalocele, Blindness, Hydrocephalus, Myelomeningocele, Abnormal heart morphology |
OMIM:219000 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Visual loss, Blindness, Amblyopia |
ORPHA:2250 |
Senior-Loken Syndrome 3 |
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Visual loss, Congenital blindness |
OMIM:606995 |
Goodpasture Syndrome |
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Weight loss, Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Yunis-Varon Syndrome |
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Redundant neck skin, Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth ret... |
ORPHA:3472 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Redundant skin, Cardiomegaly, Splenomegaly, Large placenta, Umbilical hernia, Hyper... |
ORPHA:116 |
Osteoporosis-Pseudoglioma Syndrome |
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Congenital blindness, Blindness, Ventricular septal defect, Short stature |
OMIM:259770 |
Thauvin-Robinet-Faivre Syndrome |
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Transient neutropenia |
OMIM:617107 |
Hepatoerythropoietic Porphyria |
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Abnormal bleeding, Blindness, Paresthesia |
ORPHA:95159 |
Vascular Ehlers-Danlos Syndrome |
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Redundant skin, Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Short s... |
ORPHA:286 |
Enhanced S-Cone Syndrome |
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Hemeralopia, Nyctalopia |
OMIM:268100 |
Williams Syndrome |
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Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Atrial septal defect,... |
ORPHA:904 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Ne... |
ORPHA:821 |
Congenital Erythropoietic Porphyria |
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Abnormal bleeding, Blindness, Paresthesia |
ORPHA:79277 |
Norrie Disease |
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Blindness, Clonus, Cachexia, Venous insufficiency, Hypertonia, Delayed puberty, Failure to thrive |
ORPHA:649 |
Sarcoidosis |
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Abnormal cardiac ventricular function, Blindness, Portal hypertension, Heart block, Ventricular t... |
ORPHA:797 |
Norrie Disease |
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Blindness |
OMIM:310600 |
Tuberous Sclerosis Complex |
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Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Aortic aneurysm, Hypertension, Internal hemo... |
ORPHA:805 |
Pmm2-Cdg |
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Myopia, Pericarditis, Angina pectoris, Ataxia, Abnormality of coordination, Pericardial effusion,... |
ORPHA:79318 |
Fraser Syndrome |
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Encephalocele, Umbilical hernia, Myelomeningocele, Blindness |
ORPHA:2052 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Blindness, Weight loss |
ORPHA:79078 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Alström Syndrome |
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Blindness, Somatic sensory dysfunction, Ataxia, Incoordination, Portal hypertension, Short statur... |
ORPHA:64 |
Menke-Hennekam Syndrome 1 |
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Umbilical hernia, Blindness, Hypermetropia |
OMIM:618332 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... |
ORPHA:51608 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Congestive h... |
OMIM:182250 |
Microphthalmia, Syndromic 6 |
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Myopia, Blindness, Failure to thrive |
OMIM:607932 |
Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly |
OMIM:601374 |
Microphthalmia, Syndromic 1 |
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Growth delay, Blindness, Bicuspid aortic valve, Spastic diplegia |
OMIM:309800 |