| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... |
OMIM:160120 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Anemia, Hypersplenism, Myoclonus, Hypocholesterolemia, Thrombocytopenia, Intention ... |
OMIM:610539 |
| Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, In... |
OMIM:232300 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor, Difficulty walking, Elevated circulating creatine kinase concentration |
OMIM:615048 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Difficulty... |
OMIM:619565 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... |
ORPHA:98807 |
| Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase c... |
ORPHA:94093 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... |
ORPHA:309169 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Hepatomegaly, Eosinophilia, Impaired oxid... |
OMIM:226990 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Myoclonic spasms, Ventricular arrhythmia, Calciu... |
ORPHA:36913 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
| Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Glomerulopathy, Abnormality of the liver, Hyperhomocystinemia, Hyperte... |
ORPHA:2169 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Abnormal pyramidal sign, Ventricular septal defect, Optic atrophy, Optic disc pallor, Wolff-Parki... |
OMIM:614947 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Abnormality of peripheral nerve conduction, Respiratory paralysis, Shortene... |
ORPHA:79102 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Eosinophilia, Familial |
|
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Spasticity, Abnormally low T cell receptor excision circle level, Eosinophilia, Anxiety, Unsteady... |
OMIM:618092 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Eosinophilia, Hepa... |
OMIM:607685 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Limb dystonia, Upper motor neuron dysfunction, Violent behavior, Frequent falls, D... |
ORPHA:216873 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
| Aceruloplasminemia |
|
Blepharospasm, Akinesia, Decreased circulating ceruloplasmin concentration, Decreased serum iron,... |
ORPHA:48818 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, Enlarged kidney, EEG with burst suppression, ST segment depression... |
OMIM:261740 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
| Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Cholelithiasis, Conge... |
ORPHA:3202 |
| Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Optic atrophy... |
ORPHA:137675 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Eyelid myoclonus, Jaundice, Ataxia, Pancytopenia, Hepatomegaly, Increased m... |
OMIM:613839 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... |
ORPHA:454887 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia |
OMIM:264070 |
| Myopathy, spheroid body |
|
Waddling gait, Tremor, Broad-based gait, Elevated circulating creatine kinase concentration |
OMIM:182920 |
| Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili... |
ORPHA:391411 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hypertriglyceridemi... |
OMIM:615924 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular outflow tract obstruction, Flexion contracture, Fatigable weakness of respirator... |
ORPHA:365 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Hypermanganesemia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, L... |
ORPHA:521406 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... |
OMIM:615285 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, Elevated circulating creatin... |
ORPHA:276435 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Inability to walk, Truncal atax... |
OMIM:620066 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, EEG abnormality, Choreoathetosis, Ataxia, Reticulocy... |
OMIM:612126 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Spasticity, Ankle clonus, Hyperactivity, Inability to walk, Spastic tetraplegia, Babinski sign, A... |
OMIM:616657 |
| Cinca Syndrome |
|
Anemia, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Lymphadenopathy, Elevat... |
OMIM:607115 |
| Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
| Malaria |
|
Anemia, Retinopathy, Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein ... |
ORPHA:673 |
| Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Spastic ataxia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethionine... |
OMIM:277410 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Elevated ... |
ORPHA:308552 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy... |
OMIM:613673 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... |
OMIM:616053 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal glucose homeostasis, Inability to walk, Fatiguable weakness of proximal limb muscles, El... |
ORPHA:90117 |
| Huntington Disease-Like 1 |
|
Poor fine motor coordination, Gait ataxia, Chorea, Abnormal posturing, Weight loss, EEG abnormali... |
ORPHA:157941 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Loss of ambulation, Tremor, Thrombocytopenia, Dystonia, Splenomegaly |
OMIM:615010 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor, Difficulty walking |
ORPHA:423296 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Elevated proportion of CD4-negativ... |
OMIM:603909 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytope... |
OMIM:613845 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hepatic steatosis, Failure to thrive, Increased blood urea nitrogen, Congenital sen... |
OMIM:617872 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Cortical myoclonus, Hyperphosphatemia, Optic atrophy, Anxiety, Writer's cramp, Fatig... |
ORPHA:428 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Tremor... |
OMIM:614018 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... |
OMIM:616689 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Persistence of hemoglobin F, Macrocytic anemia, Increase... |
OMIM:300946 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Clumsiness, Elevated circulating creatine kinase concentration, Difficulty w... |
OMIM:253600 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... |
ORPHA:99845 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Decreased body weight, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis... |
ORPHA:340 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ... |
OMIM:213600 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Cockayne Syndrome Type 1 |
|
Enamel hypoplasia, Anemia, Foot joint contracture, Abnormality of peripheral nerve conduction, Ma... |
ORPHA:90321 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Splenomegaly, High... |
ORPHA:231226 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Anemia, Optic atrophy, Choreoathetosis, Hemiplegia/hemiparesis, Hyperammonemia, Thrombocy... |
ORPHA:289916 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Ataxia, Steato... |
OMIM:615558 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Stepp... |
OMIM:618387 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,... |
ORPHA:240094 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Cerebral ischemia, Vasculitis |
ORPHA:26137 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Pericardial effusion, Hematuria, Elevated circulating creatine kinase concentration, Peri... |
ORPHA:231111 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Pgm3-Cdg |
|
Conductive hearing impairment, T lymphocytopenia, Bone marrow hypocellularity, Eosinophilia, Decr... |
ORPHA:443811 |
| Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Optic atrophy, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Hyperammon... |
ORPHA:27 |
| Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait disturbance, Tremor, Diffic... |
ORPHA:98764 |
| Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Transient ischemic attack, Microangiopath... |
OMIM:274150 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH... |
ORPHA:79443 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Increased LDL cholesterol concentrat... |
OMIM:607616 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH... |
ORPHA:94089 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Ca... |
ORPHA:94090 |
| Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Eosinophilia |
OMIM:248100 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Upper motor neuron dysfunction, Frequent falls, Difficulty walking, Neuromuscular dysphagia, Spas... |
ORPHA:206443 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... |
OMIM:618278 |
| Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Agitation, Hemiplegia, Tremor, Anxiety |
OMIM:141500 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Postural tremor, Resting tremor, Parkinsonism, Clumsiness, Rigidity, Akinesia, Freezing of gait, ... |
OMIM:619911 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Neutropenia, Ataxia, Thrombocytopenia, Athetosis, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Immunodeficiency 23 |
|
Cortical myoclonus, Conductive hearing impairment, Sensorineural hearing impairment, Hemolytic an... |
OMIM:615816 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Spastic gait, Optic atrophy, Type I ... |
ORPHA:96180 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... |
ORPHA:251282 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal head movements, Abn... |
ORPHA:382 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Ataxia, Lymphopenia, Bone marrow hypocellularity... |
OMIM:127550 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia |
OMIM:614203 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Chvostek sign, Hypocalcemic seizures, Nephrocalcinosis, Hypocalcemia, Irritabi... |
OMIM:146200 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Splenomegaly, Myeloid leukemia, Increased basophil count, Ch... |
ORPHA:98849 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Myoclonus, Hypertension, Membranoproliferative glomerulonephritis, Episodic hemo... |
ORPHA:251004 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Camptodactyly, Lacticaciduria, A... |
OMIM:604273 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Tremor, Loss o... |
OMIM:617916 |
| Roifman Syndrome |
|
Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Hepato... |
OMIM:616651 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
| Cherubism |
|
Macular scar, Optic neuropathy, Marcus Gunn pupil |
OMIM:118400 |
| Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor, Optic atrophy, Optic disc pallor |
OMIM:165300 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Abnormal pericardium morphology, Weig... |
ORPHA:183 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Flexion contracture, Inability to walk, Optic atrophy, Hypertrophic cardio... |
OMIM:617303 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Dystonia |
OMIM:619302 |
| Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... |
ORPHA:2070 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... |
ORPHA:363710 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH... |
ORPHA:79444 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Dystonia |
OMIM:619301 |
| Diamond-Blackfan Anemia 7 |
|
Vesicoureteral reflux, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fal... |
OMIM:612562 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Rigidity, Hyperkalemia, Elevated circulating creatine kinase conc... |
OMIM:145600 |
| Autosomal Dominant Cerebellar Ataxia |
|
Akinesia, Pseudobulbar paralysis, Macular degeneration, Choreoathetosis, Upper motor neuron dysfu... |
ORPHA:99 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Optic atrophy, Choreoathetosis, Hyperammonemia, Thrombocytopenia, Neutropenia, Dystonia, ... |
ORPHA:79312 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Shuffling gait, Resti... |
ORPHA:3077 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Brain abscess, Aortopulmonary window, Ventricular arrhythmia, Supr... |
ORPHA:97214 |
| Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... |
ORPHA:75565 |
| X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Isothenuria, Distal renal tubular acidosis, Hepatosplenomegaly, Re... |
OMIM:611590 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, Elevated circulating phytanic acid concen... |
OMIM:614307 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Ankle clonus, Ataxia, Babinski sign, Pancytopenia, Dysmetr... |
OMIM:159550 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Abnormal posturing, Neutropenia, Methylmalonic acidemia, Hyperho... |
OMIM:614857 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorab... |
OMIM:606693 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Saccharopinuria |
|
Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo... |
ORPHA:3124 |
| Cln3 Disease |
|
Aggressive behavior, Urinary bladder sphincter dysfunction, Shuffling gait, Optic atrophy, T-wave... |
ORPHA:228346 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepat... |
OMIM:617610 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Flexion contracture, High-frequency sensorineural hearing impairment, Sensorineur... |
ORPHA:2590 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... |
OMIM:619405 |
| Halothane Hepatitis |
|
Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity |
OMIM:234350 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Gait disturbance, Mildly elevated creatine kinase, Hyperlipidemia, Tetraplegia, Hype... |
OMIM:604484 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Myoclonus, Tremor, Depression, Anxiety, Agoraphobia, Alcoholism, Pan... |
OMIM:159900 |
| Dopa-Responsive Dystonia |
|
Inability to walk, Upper motor neuron dysfunction, Difficulty walking, Arm dystonia, Lethargy, Co... |
ORPHA:255 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... |
ORPHA:811 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Agitation, Failure to thrive, Tremor, Anxiety, Dystonia, Cardiomyopathy |
OMIM:619651 |
| Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia |
ORPHA:353298 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
| Omenn Syndrome |
|
Anemia, Nephrotic syndrome, Failure to thrive, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leuko... |
ORPHA:39041 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Thrombocytopenia, Dystonia, Hepatosplenomegaly |
OMIM:610329 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin... |
OMIM:208920 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hyperphosphatemia, Acute kidney injury, Sinus tachycardia, Abnormal... |
ORPHA:466650 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... |
OMIM:617284 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Failure to thrive, Hepatomegaly,... |
OMIM:615387 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Thrombocytopenia, Lethargy, Normochromic anemia, Ventricular septal defec... |
ORPHA:124 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... |
OMIM:617519 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Mono... |
ORPHA:486 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Rod-cone dystrophy, Tip-toe gait, Abnormal posturing, Inability to walk, Optic disc p... |
ORPHA:216866 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... |
OMIM:612925 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... |
OMIM:224120 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... |
OMIM:613280 |
| Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Cholelithiasis, Proximal tubulopathy, Cirrhosis, Abnormality of ... |
ORPHA:231222 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Immunodeficiency 49 |
|
T lymphocytopenia, Spastic tetraplegia, Decreased proportion of naive CD4 T cells, Lymphopenia, A... |
OMIM:617237 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration,... |
ORPHA:210128 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
| Peroxisome Biogenesis Disorder 3B |
|
Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Retinal dystrophy, Ataxia, ... |
OMIM:266510 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Retinal hemorrhage, Acute myeloid leukemia, Abnormal ... |
ORPHA:86839 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Resting tremor, Optic atrophy, Ataxia, Mildly elevated creatine kinase, Progressive extra... |
ORPHA:401768 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612926 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Optic nerve hypoplasia, Mitral regurgitation, ... |
ORPHA:261250 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign,... |
OMIM:128100 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Aggressive behavior, Macrotia, Inability to walk, Emotional lability, Tremor, Inappropriate laugh... |
OMIM:616269 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, ... |
ORPHA:331206 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, F... |
OMIM:603554 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... |
OMIM:614470 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Frequent falls, Difficulty... |
OMIM:159950 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... |
OMIM:603552 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Sensorineural hearing impairment, Abnormal mitral valve morphology, Nephrotic syndrome, G... |
ORPHA:1192 |
| Dystonia 12 |
|
Anxiety, Parkinsonism, Torticollis, Emotional lability, Tremor, Depression, Dysphagia, Unsteady g... |
OMIM:128235 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Hypersplenism, Jaundice, Hepatocellular ... |
OMIM:619902 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Akinesia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressiv... |
ORPHA:98773 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal pericardium morphology, Anemia, Biliary cirrhosis, Weight loss, Hemipa... |
ORPHA:284 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly... |
OMIM:300908 |
| Spinocerebellar Ataxia 21 |
|
Gait ataxia, Postural tremor, Parkinsonism, Akinesia, Abnormality of extrapyramidal motor functio... |
OMIM:607454 |
| Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, EEG abnormality, Apraxia, Inappropria... |
ORPHA:3095 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612924 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Abnormality of somatosensory evoked potentials, Decreased motor nerve con... |
ORPHA:206594 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Cardiac arrest, Ataxia, Failure to thrive, Tremor, Low-set ears |
OMIM:618951 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Sple... |
ORPHA:231214 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait |
OMIM:617917 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Apathy, Ataxia, Irritability |
ORPHA:71518 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Flexion contracture, Abnormal auditory evoked potentials, Abnormal autonomic nervous system physi... |
ORPHA:99027 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... |
ORPHA:911 |
| Scleroderma |
|
Flexion contracture, Fasciitis, Elevated circulating creatine kinase concentration, Pericarditis,... |
ORPHA:801 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemiparesis, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, S... |
OMIM:235400 |
| Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Limb ... |
OMIM:617013 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Recurrent hand flapping, Stereotypical body rocking, Compulsive behaviors |
ORPHA:100973 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... |
OMIM:601198 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticu... |
ORPHA:71275 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... |
ORPHA:90044 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Ataxia, Elevated circulating guanid... |
OMIM:612736 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Blepharospasm, Falls, Akinesia, Parkinsonism, Gait imbalance, Parkinsoni... |
ORPHA:240071 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn... |
ORPHA:85451 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Abnormal pyramidal sign, Gait imbalance, Postural tremor, Oculomotor apraxia, Choreoathetosis, At... |
ORPHA:64753 |
| Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Urinary incontinence, Chorea, Anxiety, Parkinsonism, Cachexia, Ataxia, Babinski sign... |
OMIM:618093 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Cerebral vasculitis, Hemiplegia, Eosinophilia, Decreased propo... |
OMIM:243700 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Spastic tetraparesi... |
OMIM:619470 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Optic atrophy, Rigidity, Aplasia/Hypoplasia of the macula, Ataxia, Tremor, Hypertonia... |
ORPHA:33445 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Parkinsonism, Titubation, Gait disturban... |
ORPHA:225147 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Spasticity, Shuffling gait, Dysdiadochokinesis, Resting tremor, Parkinsonism, Rigidi... |
ORPHA:247234 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Hyperuricemia, Hyponatremia, Weight loss, Hepatitis, Normocytic anemia, Hyperkalemia... |
ORPHA:199299 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Pulmonary hemorrhage, Nephrotic syndrome, Neutrophilia, Membranoprolif... |
OMIM:619644 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephri... |
OMIM:304790 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Inability to walk, Optic atrophy, Hepatosplenomegaly, Hypertrophic cardiomyo... |
ORPHA:505248 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Increased VLDL cholesterol concentrat... |
OMIM:267700 |
| Hyperprolinemia, Type I |
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Prolinuria, Hyperactivity, Aggressive behavior, EEG abnormality, Ataxia, Hydroxyprolinuria, Hyper... |
OMIM:239500 |
| Myopathy With Extrapyramidal Signs |
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Chorea, Hyperlysinemia, Hyperactivity, Ventricular septal defect, Optic atrophy, Clumsiness, Abno... |
OMIM:615673 |
| Blue Diaper Syndrome |
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Hyperphosphatemia, Blue urine, Hypercalcemia, Nephrocalcinosis, Increased body weight |
ORPHA:94086 |
| Autoinflammation With Arthritis And Dyskeratosis |
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Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Failure to thrive, El... |
OMIM:617388 |
| Peroxisome Biogenesis Disorder 5B |
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Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Oculomotor apraxia, Retinal... |
OMIM:614867 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
| Spinocerebellar Ataxia 7 |
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Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Macular degenera... |
OMIM:164500 |
| Hyperlysinemia, Type I |
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Hyperactivity, Hyperlysinuria, Hyperlysinemia, Anemia |
OMIM:238700 |
| Diamond-Blackfan Anemia 3 |
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Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Intellectual Developmental Disorder, X-Linked 104 |
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Hyperactivity, Spasticity, Aggressive behavior, Optic atrophy, Ataxia, Tremor, Abnormal pinna mor... |
OMIM:300983 |
| Dystonia 3, Torsion, X-Linked |
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Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Paroxysmal Nocturnal Hemoglobinuria |
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Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuria, Dysphagi... |
ORPHA:447 |
| Cystic Echinococcosis |
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Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Weight loss, Splenic ... |
ORPHA:400 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
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Gait ataxia, Spasticity, Abnormal pyramidal sign, Hyperinsulinemia, Limb dystonia, Myoclonus, Ins... |
ORPHA:363400 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
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Tubulointerstitial nephritis, Weight loss, Nephrotic syndrome, Hepatitis, Cardiac arrest, Lymphoc... |
ORPHA:139402 |
| Majeed Syndrome |
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Flexion contracture, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:609628 |
| Eosinophilic Fasciitis |
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Weight loss, Cellulitis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Kimura Disease |
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Lymphadenopathy, Follicular hyperplasia, Eosinophilia |
ORPHA:482 |
| Epilepsy, Familial Adult Myoclonic, 3 |
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Myoclonus, Tremor, Difficulty walking |
OMIM:613608 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Hemiparesis, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune he... |
ORPHA:444463 |
| Purine Nucleoside Phosphorylase Deficiency |
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Spastic diplegia, Recurrent urinary tract infections, Increased circulating inosine concentration... |
OMIM:613179 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor,... |
OMIM:612716 |
| Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Juvenile Huntington Disease |
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Gait ataxia, Chorea, Hyperactivity, Weight loss, Rigidity, Myoclonus, Ataxia, Depression, Progres... |
ORPHA:248111 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased proportion of gamma-delta T ... |
OMIM:619774 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
| Beta-Thalassemia |
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Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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Rod-cone dystrophy, Spastic tetraplegia, Limb hypertonia, Optic atrophy, Ataxia, Dysmetria, Tremo... |
OMIM:617710 |
| Branchiootic Syndrome 1 |
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Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
| Bleeding Disorder, Platelet-Type, 9 |
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