Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Proximal amyotrophy, Motor axonal neuropathy, Axonal d... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration, Paraparesis... |
OMIM:302800 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Gowers sign, Proximal muscle weakness, Frequent falls, Progressive distal muscular atrophy, Respi... |
OMIM:159950 |
Pancytopenia And Occlusive Vascular Disease |
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Leukopenia, Anemia, Pancytopenia, Thrombocytopenia, Peripheral arterial stenosis |
OMIM:167850 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Congenital Heart Defects, Multiple Types, 7 |
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Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... |
OMIM:618780 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
Heterotaxy, Visceral, 4, Autosomal |
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Right aortic arch, Ventricular septal defect, Atrioventricular canal defect, Dextrocardia |
OMIM:613751 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Prolonged brainstem au... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
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Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Dystonia, P... |
OMIM:167320 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Babinski sign, Clonus, Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal ... |
OMIM:602433 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Proximal amyotrophy, Gait disturbance, Proximal muscle weakness, Hand tremor, Gliosis, Axonal deg... |
OMIM:604484 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Abnormality of the vertebral column, Abnormal motor neuron morphology, Short stature, Motor axona... |
ORPHA:52430 |
Familial Infantile Bilateral Striatal Necrosis |
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Atrophy/Degeneration involving the caudate nucleus, Lower limb muscle weakness, Gait disturbance,... |
ORPHA:225154 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Babinski sign, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weak... |
OMIM:613954 |
Pseudoxanthoma Elasticum |
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Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, High palate, Angina pectori... |
ORPHA:758 |
Genitopalatocardiac Syndrome |
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Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
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Right aortic arch with mirror image branching |
OMIM:107500 |
Amegakaryocytic Thrombocytopenia, Congenital |
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Pancytopenia, Thrombocytopenia, Megakaryocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
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Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
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Interrupted aortic arch, Macular coloboma, Coarctation of aorta, Retinal coloboma |
OMIM:107550 |
Myopathy And Diabetes Mellitus |
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Proximal amyotrophy, Babinski sign, Pelvic girdle muscle weakness, Peripheral axonal neuropathy, ... |
ORPHA:2596 |
Left Ventricular Noncompaction 10 |
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Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Mitochondrial Dna Depletion Syndrome 18 |
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Proximal muscle weakness, Clonus, Weakness of facial musculature, Distal amyotrophy, Failure to t... |
OMIM:618811 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Pelvic girdle muscle weakness, Generalized muscle weakness, Exertional dyspnea, Decreased cervica... |
ORPHA:254361 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Babinski sign, Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneratio... |
OMIM:615157 |
Emanuel Syndrome |
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Cleft palate, Truncus arteriosus, Broad jaw, Patent ductus arteriosus, Micropenis, Recurrent resp... |
OMIM:609029 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... |
OMIM:618138 |
Congenital Tracheomalacia |
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Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Patent ductus arteriosus, Decre... |
ORPHA:95430 |
Acute Erythroid Leukemia |
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Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Bone marrow ... |
ORPHA:318 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Contractures of the joints of the upper limbs, Proximal muscle weakness, ... |
ORPHA:300605 |
Pseudoxanthoma Elasticum |
|
Hypertension, Mitral valve prolapse, Accelerated atherosclerosis, Retinal hemorrhage, Renovascula... |
OMIM:264800 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Micrognathia, Hydronephrosis, Ventricular septal defect, Cleft palate, U... |
ORPHA:1727 |
Emanuel Syndrome |
|
Cleft palate, Truncus arteriosus, Redundant neck skin, Broad jaw, Delayed eruption of teeth, Pate... |
ORPHA:96170 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Diaphragmatic paralysis, Peripheral axonal degeneration, Inspiratory stridor, Intrauterine growth... |
OMIM:604320 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Skeletal muscle atrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, ... |
OMIM:105550 |
Pontocerebellar Hypoplasia, Type 1A |
|
Respiratory insufficiency, Fasciculations, Basal ganglia gliosis, Degeneration of anterior horn c... |
OMIM:607596 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Patent ductus arteriosus, Splenomegaly, Low posterior hairline, Recurrent respirator... |
OMIM:617303 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Progressive external ophthalmoplegi... |
OMIM:208920 |
Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Hand tremor, Muscle weakness, Tongue fasciculations, Spinal muscular atr... |
OMIM:253550 |
Oculopharyngodistal Myopathy |
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Fatigable weakness of bulbar muscles, Abnormal morphology of musculature of pharynx, Proximal mus... |
ORPHA:98897 |
Cockayne Syndrome |
|
Carious teeth, Limb hypertonia, Abnormal renal physiology, Progressive gait ataxia, Splenomegaly,... |
ORPHA:191 |
Monomelic Amyotrophy |
|
Distal upper limb amyotrophy, Fasciculations, Tremor, Muscle weakness, Abnormality of peripheral ... |
ORPHA:65684 |
Spinal Muscular Atrophy, Type Iii |
|
Proximal muscle weakness, Skeletal muscle atrophy, Limb fasciculations, Hand tremor, Muscle weakn... |
OMIM:253400 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
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Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Webbed neck, Short neck |
ORPHA:2516 |
Arts Syndrome |
|
Optic atrophy, Death in infancy, Growth delay, Progressive muscle weakness, Spinal cord posterior... |
OMIM:301835 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Global brain atrophy, Spastic hemiparesis, Abnormal pyramidal sign, Progressive extra... |
ORPHA:282166 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hyperlipidemia, Cardiac conduction abnormality, Diabetes m... |
ORPHA:439232 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Proximal muscle weakness, Steppage gait, Axonal degeneration, Distal sensory im... |
OMIM:616155 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Babinski sign, Dystonia, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spas... |
OMIM:205100 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Bicuspid aortic valve, Neonatal respiratory distress, Cleft palate, Dysplastic tricu... |
OMIM:265380 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Renal tubular atrophy, Micrognathia, Focal segmental glomerulosclerosis, ... |
OMIM:616730 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Microdontia, Pneumonia, Cardiomegaly, Bradycard... |
OMIM:601005 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Hypoparathyroidism, Tachypnea, Doubl... |
ORPHA:3426 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Bilateral lung agenesis, Microgna... |
OMIM:601186 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Subdural hemorrhage, Aortic root aneurysm, Premature coronary artery atheroscleros... |
ORPHA:90324 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Progressive distal muscle weakness, Facial diplegia, Autophagic vacuoles, Respiratory insufficien... |
ORPHA:399058 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Renal tubular atrophy, Micrognathia, Focal segmental glomerulosclerosis, ... |
OMIM:618348 |
Spinal Muscular Atrophy, Type Iv |
|
Proximal amyotrophy, Proximal muscle weakness, Hand tremor, Tongue fasciculations, Spinal muscula... |
OMIM:271150 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Midface retrusion, Long philtrum,... |
ORPHA:401935 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Desminopathy |
|
Thoracic kyphoscoliosis, Concentric hypertrophic cardiomyopathy, Fatigable weakness of bulbar mus... |
ORPHA:98909 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Babinski sign, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, F... |
OMIM:602099 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal degeneration, Short s... |
OMIM:604168 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemic tetany, Prolonged QT interval, Ven... |
ORPHA:36913 |
Thymic Aplasia With Fetal Death |
|
Truncus arteriosus, Stillbirth |
OMIM:274210 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Hypoparathyroidism, Pierre-Robi... |
OMIM:192430 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Infertility, Dextrocardia |
OMIM:617577 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Distal upper limb a... |
ORPHA:600 |
Waldenström Macroglobulinemia |
|
Leukemia, Lymphadenopathy, Splenomegaly, Gastrointestinal hemorrhage, Vasculitis, Cutis marmorata... |
ORPHA:33226 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... |
ORPHA:358 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
Cocaine Intoxication |
|
Wheezing, Tubulointerstitial nephritis, Ventricular arrhythmia, Pulmonary edema, Reduced consciou... |
ORPHA:90068 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophtha... |
OMIM:609286 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Short stature, Hypergonadotropic hypogonadism, Failure to thri... |
OMIM:248800 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... |
OMIM:617478 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Hyperlipid... |
ORPHA:1830 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... |
OMIM:616852 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Gait disturbance, Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block... |
ORPHA:98912 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Cleft palate, Patent ductus arteriosus, Micropenis, Broad skull, Cerebellar hypoplas... |
ORPHA:163979 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Micrognathia, High palate, Persistent left superior vena cava, Double outlet right ventricle, Pat... |
ORPHA:3304 |
Bone Marrow Failure Syndrome 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:614675 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Hypospadias, Cleft palate, Truncus arteriosus, Thrombocytopenia, Hypoplasia of the... |
ORPHA:567 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced eject... |
ORPHA:75565 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Muscle fiber necrosis, Premature ovarian insufficiency, Bradykinesia, Prima... |
OMIM:157640 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology |
OMIM:615373 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Webbed neck, Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Hematuria, Renal cyst, Raynaud ... |
OMIM:611773 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Myopathy, Failure to thrive in infancy, Skeletal muscle atrophy, Respiratory insufficiency, Weakn... |
ORPHA:254875 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Anemia, Bone marrow hypocellula... |
OMIM:619041 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Myopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Facial pal... |
OMIM:301830 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Pulmonary insufficiency, Midgut malrotation, Renal agenesis, Cleft palate... |
ORPHA:2326 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Pseudobulbar paralysis... |
OMIM:105400 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresthesia, Abnormality of the spinal cord, Quadriceps muscle weakness, Somatic sensory dysfunct... |
ORPHA:99947 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypospadias, Ethylmalonic aciduria, Apnea, Increased intramyocellular lipid droplets, Patent duct... |
ORPHA:17 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Hypospadias, Bicuspid aortic valve, Cardiac conduction abnormality, Patent ductus ... |
ORPHA:353281 |
Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Recurrent aspiration pneumonia, Neuronal loss in central nervous system, Myoclonus... |
ORPHA:204 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Distal amyotrophy, Axonal degeneration, Dis... |
OMIM:606482 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... |
OMIM:616749 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Babinski sign, Proximal muscle weakness, Amyotrophic lateral sclerosis, Ataxia, Bulbar palsy, Par... |
OMIM:615911 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Renal tubular dysfunction, Ventricular arrhyth... |
ORPHA:37553 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Micrognathia, Ventricular septal defect, Truncus arteriosus, Respiratory insuff... |
OMIM:228940 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cleft palate, Neutropenia, Hypoplasia of the thymus, Patent ductus arteriosus, Splenomegaly, Eryt... |
OMIM:612541 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Cerebral hemorrhage, High, narrow palate, High palate, Mitral valve prolapse, Retinal hemorrhage,... |
OMIM:177850 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... |
OMIM:601927 |
Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... |
ORPHA:3384 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... |
ORPHA:59135 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Abnormal descending aorta morphology,... |
ORPHA:99050 |
Fixed Subaortic Stenosis |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Exertional dyspnea, Ventricular septal ... |
ORPHA:3092 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... |
ORPHA:980 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Hypertension, Focal segmental glomerulosclerosis, Neutropenia, Microd... |
OMIM:242900 |
Johnson Neuroectodermal Syndrome |
|
Carious teeth, Ventricular septal defect, Cleft palate, Hypogonadotropic hypogonadism, Facial pal... |
OMIM:147770 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
Amyotrophic Lateral Sclerosis 8 |
|
Postural tremor, Proximal muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, ... |
OMIM:608627 |
Catel-Manzke Syndrome |
|
Dextrocardia, Micrognathia, Ventricular septal defect, Cleft palate, High palate, Cleft upper lip... |
OMIM:616145 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Adrenal insufficiency, Thrombocytopenia, Subdural hemorrhage, Lymphadenopathy, Melen... |
ORPHA:99827 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Abnormal... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Abnormal... |
OMIM:616437 |
Williams Syndrome |
|
Gait imbalance, Abnormal dental enamel morphology, Patent ductus arteriosus, Recurrent respirator... |
ORPHA:904 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Paralysis, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neuron morphology... |
OMIM:105500 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Optic atrophy, Hypospadias, Prolonged QT interval, Noncompaction cardiomy... |
OMIM:610198 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal hip joint morphology, Abnormality of the knee, Choroidal neovascularization, Medullary n... |
ORPHA:51608 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased muscle mass, Peripheral axonal neuropathy, Respiratory insufficiency, Vocal cord paraly... |
OMIM:615490 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Clumsiness, Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Steppage ... |
ORPHA:399086 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Inflammatory myopathy, Interphalangeal joint contracture of finger, Abnormal muscle fiber morphol... |
ORPHA:1145 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Carious teeth, Decreased muscle mass, Dandy-Walker malformation, Smooth philtrum, High palate, Su... |
ORPHA:357074 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Normocytic anemia, Pneumonia, Weakness of facial musculature, Eleva... |
ORPHA:247691 |
Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Gait disturbance, Abnormality of the spinal cord, Truncal titubation, Ax... |
ORPHA:88628 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Melena, Muscle hemorrhage, Generalized abnormality of skin, Gastrointestinal hem... |
ORPHA:464321 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Micrognathia, Methylmalonic acidemia, Neutropenia, Methylmalonic aciduria, T... |
OMIM:614857 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Limb muscle weakness, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neuron... |
OMIM:614373 |
Adrenomyeloneuropathy |
|
Abnormality of the spinal cord, Dorsal column degeneration, Axonal degeneration, Atrophy of the s... |
ORPHA:139399 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy, Gait disturbance, Neuronal loss in central nervous system, Amyotrophic later... |
OMIM:608030 |
Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... |
ORPHA:185 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, ST segment depression, Prolonged QTc in... |
ORPHA:90065 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Amyotro... |
OMIM:612069 |
Autosomal Recessive Centronuclear Myopathy |
|
Gowers sign, Hip contracture, Respiratory insufficiency, Facial diplegia, Progressive muscle weak... |
ORPHA:169186 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Exertional dyspnea, Basilar artery calcification, Vasculitis, Transient ische... |
ORPHA:365 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency, Bradycardia, Patent ductus arteriosus, Hy... |
OMIM:616276 |
Galloway-Mowat Syndrome 3 |
|
Hypertension, Micrognathia, Cerebellar atrophy, High palate, Midface retrusion, Nephrotic syndrom... |
OMIM:617729 |
Machado-Joseph Disease Type 3 |
|
Clumsiness, Progressive gait ataxia, Supranuclear ophthalmoplegia, Substantia nigra gliosis, Abno... |
ORPHA:276244 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, Cardiomyop... |
ORPHA:263297 |
Duchenne Muscular Dystrophy |
|
Proximal muscle weakness, Skeletal muscle atrophy, Respiratory insufficiency, Progressive muscle ... |
ORPHA:98896 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Amyotrophic Lateral Sclerosis |
|
Paralysis, Fatigable weakness of bulbar muscles, Motor neuron atrophy, Skeletal muscle atrophy, A... |
ORPHA:803 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Hepatomegaly, Truncus arteriosus, Pulmonary ... |
OMIM:615415 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Diaphragmatic paralysis, Wheezing, Central apnea, Hyperoxemia, Abnorma... |
ORPHA:70589 |
Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Horseshoe kidney, Micrognathia, Hydronephrosis, Tricuspid atresia, Tricu... |
ORPHA:391641 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Failure to thrive, Ventricular hypertrophy, Apnea,... |
OMIM:619048 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... |
ORPHA:100070 |
Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Optic atrophy, Myopathy, Dystonia, Failure to thrive, Cardiomyopathy, Elev... |
ORPHA:26792 |
Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Hypospadias, Micrognathia, Hydronephrosis, Ventricular septal defect, Cl... |
OMIM:300712 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Mitral regurgitation, Knee fle... |
OMIM:603387 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Acute Panmyelosis With Myelofibrosis |
|
Abnormality of bone marrow stromal cells, Pancytopenia, Myelofibrosis, Acute myelomonocytic leuke... |
ORPHA:86843 |
Distal Trisomy 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:1705 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Esophageal varix, Tricuspid regu... |
OMIM:616589 |
Acrocardiofacial Syndrome |
|
Hypospadias, Ventricular septal defect, Death in infancy, Truncus arteriosus, Cleft palate, Cleft... |
ORPHA:2008 |
Partial Atrioventricular Septal Defect |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Exertional dyspnea, Transient ischemic ... |
ORPHA:1330 |
Infantile Refsum Disease |
|
Optic atrophy, Short stature, Failure to thrive, Progressive muscle weakness, Facial palsy, Cardi... |
ORPHA:772 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity, Premature o... |
OMIM:615889 |
Distal Anoctaminopathy |
|
Progressive muscle weakness, Proximal muscle weakness in upper limbs, Waddling gait, Calf muscle ... |
ORPHA:399096 |
Alport Syndrome |
|
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... |
ORPHA:63 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
OMIM:616435 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle atrophy, Trophic limb changes, Axonal loss, Distal amyotrophy, Orthostatic hypote... |
OMIM:118301 |
Apert Syndrome |
|
Pyloric stenosis, Brachyturricephaly, Cleft palate, Malar flattening, Delayed eruption of teeth, ... |
OMIM:101200 |
Eisenmenger Syndrome |
|
Wheezing, Right ventricular failure, Syncope, Left-to-right shunt, Brain abscess, Ventricular arr... |
ORPHA:97214 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypospadias, Death in infancy, Bradycardia, ... |
OMIM:618815 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Hepatomegaly, B lymphocytopenia, Pneumonia, Failure to thrive, Reduced red cell adenos... |
OMIM:102700 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Brac... |
OMIM:162100 |
1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Hydronephrosis, High palate, Long philtrum, Failure to thrive, Patent du... |
ORPHA:250989 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Left-to-right shunt, Esophageal varix, Neonatal death, Patent ductus arteriosus, Splenomegaly, In... |
OMIM:619534 |
Charcot-Marie-Tooth Disease Type 4A |
|
Spinal deformities, Quadriceps muscle weakness, Joint contracture of the hand, Chronic axonal neu... |
ORPHA:99948 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelin... |
OMIM:605285 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus |
OMIM:615297 |
Amyotrophic Lateral Sclerosis 19 |
|
Loss of ability to walk, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sc... |
OMIM:615515 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology,... |
OMIM:607641 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Carious teeth, Hypospadias, Bicuspid aortic valve, Cardiac conduction abnormality, Patent ductus ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Carious teeth, Hypospadias, Bicuspid aortic valve, Cardiac conduction abnormality, Patent ductus ... |
ORPHA:353277 |
Coronary Arterial Fistula |
|
Coronary artery aneurysm, Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Exertional dy... |
ORPHA:2041 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Bicuspid aortic valve, Truncus arteriosus, Retinal coloboma, Abnormality of the opti... |
ORPHA:508498 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... |
ORPHA:567548 |
Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Dandy-Walker malformation, Ventricular septal defect, High, narrow palat... |
OMIM:616920 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, R... |
OMIM:605355 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... |
ORPHA:610 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Respiratory insufficiency, Ophthalmoparesis, Astrocytosis, Ophthalmoplegia, Cerebral atrophy, Res... |
OMIM:600333 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Abnormality of the vertebral column, Peripheral demyelination, Quadriceps muscle weakness, Proxim... |
ORPHA:101097 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, Ventricular septal defect, High palate, Long philtrum, Torticollis, Hyp... |
OMIM:617022 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia, Paralysis, Axonal loss, Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
Mucopolysaccharidosis, Type Vii |
|
Chronic bronchitis, Hirsutism, Short stature, Postnatal growth retardation, Anterior beaking of l... |
OMIM:253220 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Failure to thrive in infancy, ... |
ORPHA:477817 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal muscle weakness, Spasticity, Distal amyotrophy |
OMIM:611895 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Micrognathia, Ureteral duplication, Truncus arteriosus, Ventricular septal defect, P... |
OMIM:617516 |
Aicardi-Goutieres Syndrome 9 |
|
Increased blood pressure, Micropenis, Hepatosplenomegaly, Portal hypertension, Hemolytic anemia, ... |
OMIM:619487 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Pleuritis, Abnormality of the hypothalamus-pituitary axis, Cerebral ischemia, Recurren... |
ORPHA:900 |
Digeorge Syndrome |
|
Cleft palate, Truncus arteriosus, Renal dysplasia, Patent ductus arteriosus, Unilateral renal age... |
OMIM:188400 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Percussion myotonia, Mandibular prognathia, Increased QRS voltage, Ele... |
OMIM:619040 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Leukemia, Patent ductus arteriosus, Coloboma, Delayed cranial suture closure, Hypopl... |
OMIM:180849 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Pancytopenia, Leukemia, Bone marrow hypocellularity, Myeloid leukemia, Aplastic anemia |
OMIM:614743 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Optic atrophy, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Retinal arte... |
OMIM:249660 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Telangiectasia, Hematuria, Vasculitis in the skin, Raynaud phenomenon, Retinal exudate, Macular e... |
OMIM:192315 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Neuronal loss in central nervous system, Myo... |
OMIM:600795 |
Pseudohypoparathyroidism Type 1B |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Hypoc... |
ORPHA:94089 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Abnormal anterior horn cell morphology, Peripheral axonal neuropathy, Skeletal muscle a... |
OMIM:611890 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Small for gestational age, Renal dysplasia, Elevated circulating creatinine concent... |
OMIM:616733 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Spasticity |
OMIM:614808 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cerebellar atrophy, Nephrotic syndrome, El... |
OMIM:607426 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Decreased nerve ... |
OMIM:606070 |
Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Redu... |
OMIM:268500 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cleft palate, Hypoplasia of the thymus, Apnea, Cubitus valgus, Joint contracture of the hand, Tur... |
OMIM:214110 |
Scorpion Envenomation |
|
Prominent U wave, Myocarditis, Cardiac conduction abnormality, ST segment depression, Pulmonary e... |
ORPHA:466677 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Optic atrophy, Dystonia, Prolonged QT interval, Hypochromic microcytic an... |
ORPHA:66634 |
Distal Myotilinopathy |
|
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities,... |
ORPHA:98911 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Micrognathia, Cerebellar atrophy, High palate, Minimal change glomerulonephritis, Nephrotic syndr... |
OMIM:301006 |
Fabry Disease |
|
Hyperlipidemia, Achalasia, Transient ischemic attack, Nephropathy, Emphysema, Hypertrophic cardio... |
ORPHA:324 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in infancy, Neonatal death, Aplasia of the left hemidiaphragm, Paten... |
OMIM:608978 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Absent muscle fiber merosin, Respiratory failure, Decreased body weight, Reduced ejection fractio... |
ORPHA:258 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Abnormality of neuronal migration, Decreased plasma free carnitine, Apnea... |
OMIM:608836 |
Cardiogenic Shock |
|
Right ventricular failure, Crackles, Low-output congestive heart failure, Reduced consciousness/c... |
ORPHA:97292 |
Spinocerebellar Ataxia With Dysmorphism |
|
Babinski sign, Cerebellar atrophy, Coarse hair, Ataxia, Scoliosis |
OMIM:271270 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Muscle weakness, Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness |
OMIM:619141 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... |
ORPHA:2255 |
Charge Syndrome |
|
Cleft palate, Delayed eruption of teeth, Patent ductus arteriosus, Iris coloboma, Aplasia/Hypopla... |
ORPHA:138 |
Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... |
ORPHA:98902 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Charge Syndrome |
|
Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Retinal coloboma, Decreased response ... |
OMIM:214800 |
Asbestos Intoxication |
|
Wheezing, Right ventricular failure, Cor pulmonale, Lung adenocarcinoma, Pleural thickening, Exer... |
ORPHA:2302 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Triosephosphate Isomerase Deficiency |
|
Dystonia, Myopathy, Optic disc pallor, Skeletal muscle atrophy, Progressive muscle weakness, Resp... |
OMIM:615512 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Adrenal insufficiency, Nephrotic syndrome, Stage 5 chronic ki... |
OMIM:617575 |
Monosomy 18Q |
|
Left-to-right shunt, Slender build, Patent ductus arteriosus, Micropenis, Cerebellar hypoplasia, ... |
ORPHA:1600 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Death in infancy, Neutropenia, Apnea, Bradycardia, Respiratory failure, 3-Methylglutaco... |
OMIM:617248 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Episodic tachypnea, Hyperammonemia, Lethargy, Jaundice, Ventricular septa... |
ORPHA:26793 |
Ethylene Glycol Poisoning |
|
Confusion, Renal tubular dysfunction, Gastritis, Pulmonary edema, Hypertension, Abnormal pattern ... |
ORPHA:31826 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... |
OMIM:603965 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bicuspid aortic valve, Cubitus valgus, Urogenital sinus anomaly, Micropenis, Low pos... |
ORPHA:1772 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Pancytopenia, Thrombocytopenia, Megaloblastic bone marrow |
ORPHA:859 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Progressive distal muscle weakness, Limb muscle weakness, Progressive mus... |
ORPHA:641 |
17Q24.2 Microdeletion Syndrome |
|
Micrognathia, Patent ductus arteriosus after birth at term, Prolonged QT interval, Short philtrum... |
ORPHA:529962 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Proximal muscle weakness, Scapuloperoneal amyotrophy, Respiratory insufficiency due to muscle wea... |
OMIM:611067 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Abnormal aortic morphology, Ventricular septal defect, Respiratory insufficiency, C... |
ORPHA:1166 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Flat occiput, Telangiectasia, Micrognathia, Optic atrophy, Ankle flexion contracture, Pontocerebe... |
OMIM:608799 |
Galloway-Mowat Syndrome 1 |
|
Joint contracture of the hand, Camptodactyly, Micrognathia, High palate, Nephrotic syndrome, Pach... |
OMIM:251300 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Petechiae, Elevated circulating creatine kinase concentration... |
ORPHA:231111 |
Bronchogenic Cyst |
|
Paresthesia, Pneumonia, Bronchogenic cyst, Syringomyelia, Abnormality of the cervical spine, Back... |
ORPHA:2357 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage fluid lymphocy... |
OMIM:610978 |
Oligomeganephronia |
|
Branchial cyst, Abnormality of medullary pyramid morphology, Decreased glomerular filtration rate... |
ORPHA:2260 |
Melas |
|
Dilated cardiomyopathy, Cardiac conduction abnormality, Diabetes mellitus, Nephropathy, Reduced c... |
ORPHA:550 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Hepatomegaly, Dystonia, Neutropenia, Failure to thrive, Anemia, Cardiomyopathy, Hy... |
ORPHA:79312 |
Cerebrotendinous Xanthomatosis |
|
Long-tract signs, Abnormal auditory evoked potentials, Global brain atrophy, Axonal degeneration,... |
ORPHA:909 |
3C Syndrome |
|
Hypospadias, Abnormality of neuronal migration, Death in infancy, Cleft palate, Iris coloboma, Ap... |
ORPHA:7 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Upper motor neuron dysfunction |
OMIM:612577 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Respiratory insufficiency, Short stature, Failure to thrive, Progressive muscle weakness, Rimmed ... |
OMIM:619518 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... |
OMIM:613243 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoglobinuria, Prolonged QT interval, Prolon... |
ORPHA:71212 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Distal muscle weakness |
OMIM:205250 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Failure to thrive, Hypopl... |
OMIM:600001 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paralysis, Vocal cord paresis, Tremor, Distal amyotrophy, Distal muscle weakness, Diff... |
OMIM:158580 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ethylmalonic aciduria, Myopathy, Failure to thrive, Facial palsy, Cardiomyopathy, Flexion contrac... |
OMIM:201470 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Retinal degeneration, Renal dysplasia, Renal cyst, Rod-cone dystrophy, Bronchioli... |
OMIM:615993 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney ... |
OMIM:603278 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated c... |
ORPHA:567544 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Inflammation of the large intestine, Hashimoto thyroiditis, Hyperlipidemia... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Inflammation of the large intestine, Hashimoto thyroiditis, Hyperlipidemia... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Inflammation of the large intestine, Hashimoto thyroiditis, Hyperlipidemia... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Inflammation of the large intestine, Hashimoto thyroiditis, Hyperlipidemia... |
ORPHA:881 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypoproteinemia, Pyloric stenosis, Neonatal respiratory distress, Hyperlip... |
OMIM:256300 |
Ogden Syndrome |
|
High, narrow palate, Ventricular septal defect, Everted upper lip vermilion, Torticollis, Shuffli... |
ORPHA:276432 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Low-output congestive heart failure, Splenomegaly, Diabetes mellitus, Coronary ar... |
ORPHA:565612 |
Cardiac Diverticulum |
|
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... |
ORPHA:1686 |
Monosomy 22 |
|
High palate, Hypochromic microcytic anemia, Long philtrum, Thin vermilion border, Aplasia of the ... |
ORPHA:96123 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Polymicrogyria, Cerebel... |
OMIM:617730 |
Aplastic Anemia |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... |
ORPHA:99103 |
Leptospirosis |
|
Chorioretinitis, Lymphadenopathy, Optic neuritis, Jaundice, Hyperproteinemia, Pericarditis, Subco... |
ORPHA:509 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Babinski sign, Optic atrophy, Cerebellar atrophy, Dystonia, External ophthalmoplegia, Dysmetria, ... |
OMIM:612319 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hyperamylasemia, Adrenal insufficiency, Death in infancy, Lacticacid... |
OMIM:619386 |
Holoprosencephaly |
|
Abnormality of neuronal migration, Iris coloboma, Aplasia/Hypoplasia of the cerebellum, Diabetes ... |
ORPHA:2162 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... |
OMIM:613237 |
Dextrocardia |
|
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Abnormality of the ... |
ORPHA:1666 |
Gaisböck Syndrome |
|
Diabetes mellitus, Increased circulating renin level, Coronary artery atherosclerosis, Hypertensi... |
ORPHA:90041 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
Long Qt Syndrome 16 |
|
T-wave alternans, Patent ductus arteriosus after birth at term, Prolonged QTc interval, Perimembr... |
OMIM:618782 |
Peters-Plus Syndrome |
|
Hypospadias, Cleft palate, Retinal coloboma, Patent ductus arteriosus, Iris coloboma, Diastasis r... |
OMIM:261540 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ventricular septal defect, Histiocytoid cardiomyopathy, Chordee, Congenital diaphrag... |
OMIM:309801 |
Mucopolysaccharidosis Type 3 |
|
Hirsutism, Recurrent sinopulmonary infections, Abnormal form of the vertebral bodies, Abnormal py... |
ORPHA:581 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Mandibular prognathia, Glomerular sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:617731 |
Incontinentia Pigmenti |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Cerebral ischemia, Camptodactyly of... |
ORPHA:464 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Crackles, Excessive bleeding after a venipuncture, Microscopic hematuria, Elevated c... |
ORPHA:319213 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Crackles, Lymphadenopathy, Respiratory failure, Elevated circulating C-reacti... |
ORPHA:79126 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Gait disturbance, Growth delay, Abnormality of hair texture, Ataxia, Pili torti, Sparse or absent... |
ORPHA:2891 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Cleft palate, Truncus arteriosu... |
ORPHA:261330 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Abnormal aortic arch morphology, Genu varum, Mandibular prognathia, Hypoplasia of ... |
ORPHA:1110 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Gait disturbance, Skeletal muscle hypertrophy, Impaired pain sensation, Kyphosis, ... |
ORPHA:99014 |
Fabry Disease |
|
Hypertension, Lipiduria, Anemia, Ventricular septal hypertrophy, Delayed puberty, Myocardial infa... |
OMIM:301500 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Hypoplasia of the thymus, Patent duc... |
ORPHA:84064 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Monoclonal light chain cardiac amyloidosis, Bruising s... |
ORPHA:85443 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... |
OMIM:300894 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Enamel ... |
OMIM:618349 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Steppage gait, Distal upper limb amyotrophy, Stage 5 chronic ... |
OMIM:614455 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Cerebellar atrophy, Nephrotic syndrome, Gait ataxia, Nephropa... |
OMIM:254900 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Proximal muscle weakness, Weakne... |
ORPHA:275872 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Peripheral axonal neuropathy, Skeletal muscle atrophy, Contractures of the joints of t... |
OMIM:613710 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy |
OMIM:610951 |
Recombinant Chromosome 8 Syndrome |
|
Thick lower lip vermilion, Micrognathia, Hydronephrosis, Ventricular septal defect, Brachycephaly... |
OMIM:179613 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Congenital hypothyroidism, Podocyte foot process effacement, Stage 5 chronic ... |
OMIM:619609 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Muscle weakness, Amyotrophic lateral sclerosis, Tongue fasciculations |
OMIM:613435 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Steppage gait, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper... |
OMIM:302802 |
Simpson-Golabi-Behmel Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Death in infancy, Cleft palate... |
ORPHA:373 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Gait disturbance, Dystonia, Rigidity, Neurodegeneration, Oromandibular dystonia, Motor axonal neu... |
OMIM:615643 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, Astro... |
ORPHA:275864 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Micrognathia, Delayed eruption of permanent teeth, Bidirectional ventr... |
OMIM:170390 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired proprioception, Impaired temperature sensatio... |
DECIPHER:29 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hyperammonemia, Elevated circulating acylcarnitine concentration, Hypertrophic cardiomyopathy, Ga... |
OMIM:616878 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Neutropenia, Pancytopenia, Cutaneous... |
ORPHA:398124 |
Acitretin/Etretinate Embryopathy |
|
Micrognathia, Third degree atrioventricular block, Conotruncal defect, Aplasia/Hypoplasia of the ... |
ORPHA:40366 |
Giant Axonal Neuropathy |
|
Babinski sign, Diffuse axonal swelling, Proximal muscle weakness, Limb muscle weakness, Facial pa... |
ORPHA:643 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Anemia of inadequate production, Palpitations, Abnormal mean corpuscular volume, Bo... |
ORPHA:86839 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Telangiectasia, Cerebellar atrophy, Short stature, Neurodegeneration, Progressive muscle weakness... |
OMIM:615919 |
Homozygous Familial Hypercholesterolemia |
|
Coronary artery aneurysm, Myocardial steatosis, Hyperlipidemia, Premature coronary artery atheros... |
ORPHA:391665 |
Myopathy, Myofibrillar, 4 |
|
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... |
OMIM:609452 |
Perlman Syndrome |
|
Interrupted aortic arch, Micrognathia, Long upper lip, Congenital diaphragmatic hernia, Volvulus,... |
OMIM:267000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Cachexia, Elevated circul... |
ORPHA:42 |
Trisomy 20P |
|
Highly arched eyebrow, Gait disturbance, Low anterior hairline, Abnormal form of the vertebral bo... |
ORPHA:261318 |
Craniofaciofrontodigital Syndrome |
|
Pyloric stenosis, Bicuspid aortic valve, Anomalous branches of internal carotid artery, Patent du... |
ORPHA:363705 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Apnea, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle mo... |
ORPHA:1055 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Elevated urinary dopamine, Ex... |
ORPHA:276621 |
Lethal Infantile Mitochondrial Myopathy |
|
Neonatal respiratory distress, Renal insufficiency, Cardiomyopathy, Lethargy |
ORPHA:254857 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Smooth philtrum, Truncus arteriosus, Retinal coloboma, Patent ductus arteriosus, ... |
ORPHA:508488 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... |
ORPHA:95434 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Bohring-Opitz Syndrome |
|
Cleft palate, Apnea, Cleft lip, Coloboma, Recurrent respiratory infections, Nephroblastoma, Micro... |
ORPHA:97297 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Skeletal muscle atrophy, Orthostatic hypotension, Progressive muscle weakness, Peripheral demyeli... |
OMIM:252320 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent ductus arteriosus, Hepatosplenomegaly, Recurrent respiratory infections, Hypertrophic card... |
ORPHA:505248 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Thyroid carcinoma, Cutis marmorata, Abnormality of the optic nerve, Micrognathia, Long philtrum, ... |
ORPHA:109 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
Distal Myopathy With Anterior Tibial Onset |
|
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... |
ORPHA:178400 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... |
ORPHA:251274 |
Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Epidural hemorrhage, Tortuous cere... |
OMIM:619472 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Respiratory insufficiency, Hematuria, Abnormal tricuspid valve morphology, Patent d... |
ORPHA:90308 |
Cerebellar-Facial-Dental Syndrome |
|
Limb hypertonia, Ureteropelvic junction obstruction, Cerebellar hypoplasia, Contractures involvin... |
ORPHA:444072 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Cerebellar atrophy, Axonal loss, Rigidity, Chorea, Peripheral demyelination, Neurodegen... |
OMIM:617672 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Hurler Syndrome |
|
Death in infancy, Splenomegaly, Camptodactyly of finger, Recurrent respiratory infections, Hypert... |
ORPHA:93473 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Skeletal muscle hyper... |
OMIM:613327 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Neutropenia, Renal cyst, Gout, Anemia, Hyperuricemia, Vascula... |
OMIM:617056 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Testicular microlithiasis, Mitral valve calcification, Pleural thicken... |
ORPHA:60025 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Athetosis, Dystonia, Subdural hemorrhage, Glutaric aciduria, Joint dislocation, Ataxia, Limb dyst... |
ORPHA:25 |
Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Small for gestational age, Elevated circulating ... |
ORPHA:275555 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... |
OMIM:615244 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Angina pectoris, Abnormal jugular vein morphology, Microangiopathic hemolytic anemia... |
ORPHA:464343 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Chorea, Hyperkinetic movements, Truncal ataxia, Limb-girdle muscular dystrophy, Cerebra... |
ORPHA:369847 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Cerebellar atrophy, Respiratory insufficiency, Bradycardia, Hyperalaninemia, Left ventr... |
OMIM:614654 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Primary Ciliary Dyskinesia |
|
Wheezing, Neonatal respiratory distress, Pulmonary situs ambiguus, Recurrent sinopulmonary infect... |
ORPHA:244 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... |
ORPHA:57777 |
Hsd10 Disease |
|
Optic atrophy, Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Postnatal ... |
ORPHA:391417 |
Distal Monosomy 15Q |
|
Hypospadias, Bicuspid aortic valve, Cleft palate, Decreased serum insulin-like growth factor 1, M... |
ORPHA:1596 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Calci... |
ORPHA:79444 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Confusion, Septic arthritis, Capillary leak, Ecchymosis, Increased circul... |
ORPHA:36234 |
Cockayne Syndrome Type 1 |
|
Contractures involving the joints of the feet, Hypertension, Gait disturbance, Enamel hypoplasia,... |
ORPHA:90321 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid ... |
ORPHA:225 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Micrognathia, Hydronephrosis, Ventricular septal defect, Cl... |
OMIM:614921 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Redundant neck skin, Thrombocytopenia, Micropenis, Cerebellar hypoplasia, Abnormal l... |
OMIM:301056 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypertension, Hypercalcemia, Episodic hemolytic anemia, Macular dystrophy,... |
ORPHA:251004 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:610725 |
C3 Glomerulopathy |
|
Hypertension, Nephrotic syndrome, Drusen, Elevated circulating creatinine concentration, Hematuri... |
ORPHA:329918 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Micrognathia, Neonatal respiratory distress, Dextrocardia, Abno... |
ORPHA:2257 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus |
OMIM:601612 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Cleft palate, Malar flattening, Patent ductus arteriosus, Rod-cone dystrophy, Microp... |
OMIM:601808 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic seizures, Delayed eruption of teeth, Hyperphosphatemia, Reduced circulating prolacti... |
ORPHA:79443 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Autosomal Dominant Polycystic Kidney Disease |
|
Aortic root aneurysm, Decreased glomerular filtration rate, Chronic kidney disease, Dilatation of... |
ORPHA:730 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Proximal muscle weakness, Decreased number of peripheral myelinated nerve fibers, Steppage gait, ... |
OMIM:256850 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... |
OMIM:212138 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Hepatomegaly, Macrocytic anemia, Respiratory insufficiency, Leukopenia, Anemia, Ca... |
ORPHA:27 |
Exercise-Induced Malignant Hyperthermia |
|
Crackles, ST segment depression, Hyperphosphatemia, Lethargy, Delirium, Hypotension, Tachypnea, E... |
ORPHA:466650 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Retinal degeneration, Nephropathy |
OMIM:257970 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Optic atrophy, Dystonia, Prolonged QT interval, Elevated circulating creatine kinase concentratio... |
ORPHA:480864 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Elevated urinary epinephrine, Sinus tachycardia, Elevated urinary ... |
ORPHA:29072 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Recurrent intrapulmonary hemorrhage, Cutis ... |
ORPHA:183 |
Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Glomerulonephritis, Abnormality of the pulmo... |
ORPHA:93126 |
Histiocytoid Cardiomyopathy |
|
Cleft palate, Pulmonary edema, Cerebellar malformation, Loss of consciousness, Shortened PR inter... |
ORPHA:137675 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Hepatomegaly, Respiratory insufficiency, Petechiae, Bradycardia, Patent duct... |
OMIM:617397 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Abnormal renal physiology, Elevated circulating creatinine... |
OMIM:223900 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Severe postnatal growth retardation, Short stature, Spinal deformities, Kyphosc... |
ORPHA:35173 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Respiratory insufficiency, Retinal hemorrhage, Small for gestational age, Eleva... |
OMIM:615368 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Brittle hair, Coarse hair, Kyphosis, Camptodactyly of finger, Sparse hair, Scolios... |
ORPHA:1883 |
Noonan Syndrome With Multiple Lentigines |
|
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal localization of kidne... |
ORPHA:500 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency, Elevated circulating creatine kinase conc... |
OMIM:300696 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... |
OMIM:256370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Generalized limb muscle atrophy, Prolonged QT interval, Elevated circulating creatine kinase conc... |
OMIM:615351 |
Primary Lipodystrophy |
|
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Type IV atheroscl... |
ORPHA:90970 |
Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Abnormal aortic morphology, Osteochondrosis, Pulmonary arterial hyperten... |
ORPHA:2396 |
Hutchinson-Gilford Progeria Syndrome |
|
Mitral valve calcification, Mitral stenosis, Delayed eruption of teeth, Raynaud phenomenon, Gener... |
ORPHA:740 |
Thrombotic Thrombocytopenic Purpura |
|
Confusion, Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Myocardial i... |
ORPHA:54057 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Wormi... |
ORPHA:2863 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... |
ORPHA:656 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Gait imbalance, Spastic gait, Spastic dysarthria, Spastic tetraparesis, ... |
ORPHA:247604 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Recurrent aspiration pneumonia, Frequent falls, Respiratory insuffici... |
ORPHA:2590 |
Short-Rib Thoracic Dysplasia 12 |
|
Cystic renal dysplasia, Renal hypoplasia, Ventricular septal defect, Hepatomegaly, Hypoplastic ni... |
OMIM:269860 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Respira... |
OMIM:601419 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Neonatal hyperbilirubinemia, Macroglossia, Decreased circulating T4 l... |
ORPHA:95717 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Distal Tetrasomy 15Q |
|
Dandy-Walker malformation, Horseshoe kidney, Micrognathia, Hydronephrosis, High palate, Pulmonary... |
ORPHA:314588 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Truncus arteriosus, Renal dysplasia, Plagiocephaly, Abnormal cortical gyration, Per... |
ORPHA:2538 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Bone marrow hypocellularity |
OMIM:613988 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... |
ORPHA:2248 |
Aorta Coarctation |
|
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... |
ORPHA:1457 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Hepatocellular n... |
OMIM:201475 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Oligohydramnios |
OMIM:617713 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... |
OMIM:616892 |
Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Neutropenia, Melena, Gastritis, Gastroi... |
ORPHA:73263 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Lymphadenopathy, Pleuritis, Abnormal lung morphology, Chronic kidne... |
ORPHA:449395 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... |
OMIM:161900 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Odontogenic neoplasm, Death in infancy, Thrombocytopenia, Abnormal dental enamel m... |
ORPHA:534 |
Rift Valley Fever |
|
Retinitis, Gingival bleeding, Excessive salivation, Hematuria, Anemia, Melena, Macular edema, Jau... |
ORPHA:319251 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Hemophagocytosis, Splenomegaly |
OMIM:300635 |
Frontotemporal Dementia |
|
Parkinsonism, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
Focal Segmental Glomerulosclerosis 7 |
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Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Igg4-Related Retroperitoneal Fibrosis |
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Ureteropelvic junction obstruction, Elevated circulating C-reactive protein concentration, Hydroc... |
ORPHA:49041 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Optic atrophy, Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Cy... |
OMIM:618164 |
Lethal Congenital Contracture Syndrome 7 |
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Paralysis, Cerebellar atrophy, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex... |
OMIM:616286 |
16P13.11 Microduplication Syndrome |
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Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:613987 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
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Hypertrophic cardiomyopathy, Growth delay, Failure to thrive, Progressive muscle weakness, Respir... |
OMIM:613561 |
Immunodeficiency 21 |
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Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Farber Disease |
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Abnormality of the knee, Lymphadenopathy, Hepatosplenomegaly, Respiratory insufficiency, Abnormal... |
ORPHA:333 |
Riboflavin Transporter Deficiency |
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Hypertension, Cachexia, Optic disc pallor, Abnormal cranial nerve morphology, Skeletal muscle atr... |
ORPHA:97229 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus |
OMIM:616501 |
Cardiomyopathy, Familial Hypertrophic 27 |
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Cardiomegaly, Hydrops fetalis |
OMIM:618052 |
Bloom Syndrome |
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Type II diabetes mellitus, Cutaneous photosensitivity, Small for gestational age, Bronchiectasis,... |
OMIM:210900 |
Nephrotic Syndrome, Type 18 |
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Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Carious teeth, Midface retrusion, Torticollis, Aortic root aneurysm, Restrictive ventilatory defe... |
ORPHA:536467 |
Focal Segmental Glomerulosclerosis 8 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Brugada Syndrome |
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Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Muscular Dystrophy, Cardiac Type |
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Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Abnormal ... |
OMIM:309930 |
Congenital Fiber-Type Disproportion Myopathy |
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Pelvic girdle muscle weakness, Fatigable weakness of bulbar muscles, Hip contracture, Generalized... |
ORPHA:2020 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Drowsiness, Focal pancreatic islet hyperplasi... |
ORPHA:276575 |
Nephrotic Syndrome, Type 13 |
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Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Infantile Sialic Acid Storage Disease |
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Hepatomegaly, High palate, Nephrotic syndrome, Failure to thrive, Vacuolated lymphocytes, Cardiom... |
OMIM:269920 |
Pyruvate Dehydrogenase E3 Deficiency |
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Abnormal cardiac ventricular function, Hepatomegaly, Hyperisoleucinemia, Failure to thrive, Cardi... |
ORPHA:2394 |
Nephrotic Syndrome, Type 19 |
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Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Sepsis In Premature Infants |
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Neutropenia, Abnormal respiratory system physiology, Petechiae, Splenomegaly, Abnormality of the ... |
ORPHA:90051 |
Kleefstra Syndrome |
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Hypospadias, Bicuspid aortic valve, Pyloric stenosis, Malar flattening, Delayed eruption of teeth... |
ORPHA:261494 |
Atrial Septal Defect, Ostium Primum Type |
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Left atrial enlargement, Syncope, Abnormal respiratory system physiology, Third heart sound, Exer... |
ORPHA:99106 |
Fallot Complex With Severe Mental And Growth Retardation |
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Ventricular septal defect, Failure to thrive, Double outlet right ventricle, Pulmonic stenosis, T... |
OMIM:601127 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
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Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of large per... |
OMIM:614895 |
Amaurosis-Hypertrichosis Syndrome |
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Optic atrophy, Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys |
ORPHA:1021 |
Hutchinson-Gilford Progeria Syndrome |
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Micrognathia, Premature coronary artery atherosclerosis, Precocious atherosclerosis, Malar flatte... |
OMIM:176670 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
8P23.1 Microdeletion Syndrome |
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Hypertrophic cardiomyopathy, Hypospadias, Micrognathia, Abnormal aortic morphology, High palate, ... |
ORPHA:251071 |
Treacher-Collins Syndrome |
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Cleft palate, Thyroid hypoplasia, Hypoplasia of the thymus, Malar flattening, Abnormal dental ena... |
ORPHA:861 |
Congenital Heart Defects, Multiple Types, 2 |
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Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... |
OMIM:614980 |
Fanconi-Like Syndrome |
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Pancytopenia |
OMIM:227850 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Inflammation of the large intestine, Neutropenia, Petechiae, Hypoplasia of the thymus,... |
ORPHA:906 |
Alagille Syndrome 1 |
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Peripheral pulmonary artery stenosis, Renal dysplasia, Papillary thyroid carcinoma, Prolonged neo... |
OMIM:118450 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
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Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... |
ORPHA:663 |
Mucopolysaccharidosis, Type Iiid |
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Ovoid thoracolumbar vertebrae, Hirsutism, Coarse hair, Hyperactivity, Recurrent upper respiratory... |
OMIM:252940 |
Hadziselimovic Syndrome |
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