Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... |
OMIM:611788 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Spasticity, Difficulty walking, Knee flexion contracture, Flexion contracture of finger, Impaired... |
ORPHA:320370 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Descending aortic dissection, Coronary artery dissection, Ascending aortic dissection, Abdominal ... |
OMIM:615436 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:617349 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Paraparesis, Elevated circulating guanidinoacetic acid concentration, Decreased serum cre... |
OMIM:612736 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Parkinsonism, Progressive cerebellar ataxia, Weakness due to upper motor neuron dys... |
ORPHA:275872 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Frequent falls, Distal sensory impairment, Gait disturbance, Hand tremor, Difficulty walking, Par... |
OMIM:302800 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Ataxia, Paraparesis, Myoclonus, Choreoathetosis, Spastic para... |
ORPHA:726 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Gait disturbance, Ataxia, Paraparesis, Tremor |
ORPHA:99014 |
Spastic Paraparesis-Deafness Syndrome |
|
Impaired pain sensation, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis |
ORPHA:2815 |
Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... |
ORPHA:229 |
Lipodystrophy, Familial Partial, Type 3 |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, ... |
OMIM:604367 |
Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Torticollis, Distal sensory impairment, Gait disturbance, Ataxia, Parki... |
OMIM:606693 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Tremor, Gait ... |
OMIM:615157 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... |
ORPHA:99 |
Spinocerebellar Ataxia 40 |
|
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, D... |
OMIM:616053 |
Distal Duplication 14Q |
|
Cognitive impairment, Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:1705 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Spasticity, Choreoathetosis, Hyperuricemia |
OMIM:308950 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Steppage gait, Paraparesis, Distal sensory impairment |
OMIM:302802 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Inability to walk, Oromotor apraxia, Ataxia, Clumsiness, Lower limb spasticity, Parap... |
OMIM:617854 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Tetraparesis, Parkinsonism, Paraparesis, Apraxia, Abnormal lower motor neuron morphology, Amyotro... |
OMIM:105550 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Inability to walk, Cogwheel rigidity, Para... |
OMIM:607483 |
Distal 7Q11.23 Microduplication Syndrome |
|
Aortic aneurysm, Anxiety, Patent ductus arteriosus |
ORPHA:261102 |
Multiple Symmetric Lipomatosis |
|
Paresthesia, Multiple lipomas, Gait disturbance, Abnormal adipose tissue morphology |
ORPHA:2398 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
Spinocerebellar Ataxia Type 40 |
|
Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysmetria, Broad-based gait, Sp... |
ORPHA:423275 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Tetraparesis, Hyperammonemia, Ataxia, Paraparesis, Choreoathetosis |
ORPHA:27 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hyperuricemia, Lipoatrophy, Hypertriglyceridemia, Loss of facial adipose tissue, Loss of subcutan... |
ORPHA:79083 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Parkinsonism, Hemiparesis, Ataxia, Paraparesis, Paralysis |
ORPHA:140989 |
3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Choreoathetosis, Ataxia, Spastic paraparesis |
ORPHA:67047 |
Lesch-Nyhan Syndrome |
|
Spasticity, Hemiplegia/hemiparesis, Hyperuricemia |
ORPHA:510 |
Mast Syndrome |
|
Gait disturbance, Apraxia, Dysdiadochokinesis, Athetosis, Spastic paraplegia, Babinski sign, Hype... |
OMIM:248900 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, Ataxia |
ORPHA:3222 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Gait disturbance, Somatic sensory dysfunction, Difficulty walking, Tremor, Spa... |
ORPHA:101077 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Parkinsonism, Ataxia, Broad-based gait, Tip-toe gait, Spastic paraplegia, Spastic gait, Spastic p... |
OMIM:613647 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Hypoargininemia, Hyperammonemia, Paraparesis, Hyperalaninemia, Generalized dys... |
OMIM:620358 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Visceral angiomatosis, Cutaneous angiolipomas |
ORPHA:53721 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Frequent falls, Elevated circulating phytanic acid concentration, Unsteady gait, Atax... |
OMIM:614877 |
Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Limb ataxia, Paraparesis, Elevated circulating long chain... |
OMIM:300100 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Action tremor |
ORPHA:77296 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Hemiparesis, Gait disturbance, Clumsiness, Paraparesis, Paralysis, P... |
ORPHA:43 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Hyperammonemia, Hyperuricemia, Myoclonus, Decreased plasma carnitine |
OMIM:246450 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Ascending aortic dissection, Aortic tortuosity |
OMIM:616166 |
Aorto-Ventricular Tunnel |
|
Abnormal aortic morphology, Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic... |
ORPHA:3400 |
Spastic Ataxia 4, Autosomal Recessive |
|
Limb ataxia, Upper limb hypertonia, Spastic ataxia, Gait ataxia, Lower limb hypertonia, Babinski ... |
OMIM:613672 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection |
OMIM:604308 |
Purine Nucleoside Phosphorylase Deficiency |
|
Spasticity, Neoplasm, Ataxia, Abnormal central motor function, Hypouricemia, Cerebral palsy, Hype... |
ORPHA:760 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Spastic tetraplegia, Gait disturbance, Tip-toe gait, Rigidity, Bradykinesia, Oromandibular dyston... |
OMIM:615643 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Upper motor neuron dysfunction, Progressive spasticity, Progressive spastic paraplegia, Ankle clo... |
ORPHA:506353 |
Aortic Valve Disease 2 |
|
Coarctation of aorta, Aortic aneurysm, Calcification of the aorta, Ascending aortic dissection, A... |
OMIM:614823 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
Burkitt Lymphoma |
|
Neoplasm of the oral cavity, Hyperuricemia |
ORPHA:543 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Spasticity, Abnormal pyramidal sign, Impaired distal vibration sensation, Spastic dysarthria, Los... |
OMIM:616680 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Spastic gait, Difficulty walking, Progressive spastic paraplegia, Impaired vibration sensation in... |
ORPHA:444099 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spasticity, Abnormal pyramidal sign, Hyperammonemia, Poor coordination, Clonus, Spastic diplegia,... |
OMIM:238970 |
Hsd10 Disease |
|
Gait disturbance, Ataxia, Rigidity, Tremor, Myoclonus, Choreoathetosis, Spastic paraparesis |
ORPHA:391417 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Elevated circulating creatinine concentration |
OMIM:617056 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Frequent falls, Upper limb hypertonia, Progressive cerebellar ataxia, Progressive gait ataxia, Lo... |
ORPHA:254343 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Lesch-Nyhan Syndrome |
|
Spasticity, Hyperuricemia, Abnormality of extrapyramidal motor function, Opisthotonus, Choreoathe... |
OMIM:300322 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia |
OMIM:261750 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Aortic root aneurysm, Thoracic aortic aneurysm, Aortic... |
OMIM:617168 |
Obsolete: Arnold-Chiari Malformation Type Ii |
|
Spasticity, Polymicrogyria, Somatic sensory dysfunction, Ataxia, Difficulty walking, Paraparesis,... |
ORPHA:1136 |
Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Right aortic arch, Tetralogy of Fallot, Anxiety, Double aortic arch, Ao... |
OMIM:618780 |
Beta-Ketothiolase Deficiency |
|
Spasticity, Hyperammonemia, Hyperuricemia, Ataxia, Extrapyramidal dyskinesia |
ORPHA:134 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Anxiety |
OMIM:618970 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia |
OMIM:613092 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Camptodactyly, Impaired vibration sensation at ankles, Difficulty walking, Babinski sign, Ankle c... |
OMIM:275900 |
Igg4-Related Aortitis |
|
Abnormal common carotid artery morphology, Thoracic aortic aneurysm, Dilated left subclavian arte... |
ORPHA:449400 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Aortic ar... |
OMIM:613834 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic aneurysm, Tetralogy of Fallot |
OMIM:614980 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Late-Infantile/Juvenile Krabbe Disease |
|
Frequent falls, Gait disturbance, Ataxia, Difficulty walking, Clumsiness, Hemiplegia, Loss of amb... |
ORPHA:206443 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Subarachnoid hemorrhage, Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extra... |
ORPHA:91387 |
Familial Cerebral Saccular Aneurysm |
|
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Intracranial... |
ORPHA:231160 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Hyperammonemia, Hyperuricemia, Ataxia, Myoclonus, Spastic hemiparesis |
ORPHA:20 |
Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia |
ORPHA:261222 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Purine Nucleoside Phosphorylase Deficiency |
|
Tetraparesis, Increased circulating inosine concentration, Ataxia, Increased circulating guanosin... |
OMIM:613179 |
Bilateral Perisylvian Polymicrogyria |
|
Spasticity, Spastic tetraplegia, Distal arthrogryposis, Limb hypertonia, Oromotor apraxia, Parapa... |
ORPHA:98889 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hyperuricemia, Increased blood urea nitrogen, Hypomagnesemia |
OMIM:613845 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Neuroleptic Malignant Syndrome |
|
Hyperuricemia, Oculogyric crisis, Hyperphosphatemia, Elevated circulating creatine kinase concent... |
ORPHA:94093 |
Primary Lateral Sclerosis |
|
Spasticity, Spastic gait, Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunc... |
ORPHA:35689 |
Arachnoid Cyst |
|
Tetraparesis, Distal sensory impairment, Neoplasm, Paresthesia, Hemiparesis, Inability to walk, G... |
ORPHA:2356 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Spastic ataxia, Myoclonus, Spastic pa... |
OMIM:614487 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Abnormality of extrapyramidal motor function, Hyperuricemia, Dystonia, Elevated circulating creat... |
ORPHA:79233 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:203800 |
Cockayne Syndrome |
|
Spasticity, Somatic sensory dysfunction, Hyperuricemia, Ataxia, Limb hypertonia, Gait disturbance... |
ORPHA:191 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, Ataxia |
ORPHA:411543 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Macular scar |
OMIM:239000 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Aggressive behavior, Hyperinsulinemia |
ORPHA:329249 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
Fibromuscular Dysplasia, Arterial |
|
Stroke, Aortic dissection, Arterial fibromuscular dysplasia |
OMIM:135580 |
Acute Transverse Myelitis |
|
Spasticity, Paresthesia, Somatic sensory dysfunction, Gait disturbance, Paraparesis, Dysesthesia,... |
ORPHA:139417 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Oculomotor apraxia, Ataxia, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spasti... |
ORPHA:313772 |
Loeys-Dietz Syndrome 6 |
|
Vertebral artery aneurysm, Thoracic aortic aneurysm, Varicose veins, Carotid artery dissection, C... |
OMIM:619656 |
Periventricular Nodular Heterotopia |
|
Aortic aneurysm, Patent ductus arteriosus |
ORPHA:98892 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Parkinsonism, Progressive spasticity, Inability to walk, Gait disturbance, Ataxia, Paraparesis, A... |
ORPHA:2822 |
Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic tetraplegia, Hyperammonemia, Spastic paraparesis |
OMIM:618721 |
Neurofibromatosis, Familial Spinal |
|
Spinal neurofibroma, Paraparesis, Symmetric spinal nerve root neurofibromas, Plexiform neurofibro... |
OMIM:162210 |
Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Ataxia, Head titubation, Rigidity, Intention tremor, Babinski sign, Chore... |
OMIM:608804 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Parkinsonism, Gait disturbance, Hand tremor, Rigidity, Shuffling gait... |
ORPHA:289560 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Steppage gait, Abnormality of extrapyramidal motor function, Hypermanganesemia, Rig... |
OMIM:613280 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending aortic dissection, Ascending tubular aorta aneurysm, Aortic root aneurysm |
OMIM:619825 |
Fragile X Syndrome |
|
Self-injurious behavior, Ascending tubular aorta aneurysm, Anxiety |
ORPHA:908 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia, Hypercalcemia, P... |
ORPHA:199299 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Difficulty walking, Impaired proprioception, Sensory ataxia, Impaired vibratory sensation, Mitoch... |
OMIM:500013 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia |
ORPHA:348 |
Adult Krabbe Disease |
|
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Somatic sensory dysfunc... |
ORPHA:206448 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Cogwheel rigidity, Ankle clonus, Scissor gait, Bradykinesia, Resting tremor, Babinski... |
ORPHA:363654 |
Poliomyelitis |
|
Hyperkinetic movements, Paresthesia, Inability to walk, Paraparesis, Paralysis, Fasciculations |
ORPHA:2912 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Polymicrogyria, Limb hypertonia, Hypouricemia, Hypertonia, Hypocystinemia, Hypertaurinemia |
OMIM:615501 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis |
ORPHA:329284 |
Ollier Disease |
|
Hemangioma, Neoplasm, Visceral angiomatosis, Multiple enchondromatosis, Abnormal cartilage morpho... |
ORPHA:296 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Isolated Succinate-Coq Reductase Deficiency |
|
Spasticity, Frequent falls, Ataxia, Knee flexion contracture, Loss of ambulation, Lower limb hype... |
ORPHA:3208 |
Wilson Disease |
|
Hepatocellular carcinoma, Limb dystonia, Chondrocalcinosis, Hand tremor, Hypoesthesia, Hypouricem... |
OMIM:277900 |
Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma, Hyperuricemia |
OMIM:232200 |
Aortic Valve Disease 3 |
|
Ascending aortic dissection, Aortic root aneurysm |
OMIM:618496 |
Farber Disease |
|
Spasticity, Flexion contracture, Myoclonus, Paraparesis |
ORPHA:333 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis, Hypercalcemia |
OMIM:602080 |
Coasy Protein-Associated Neurodegeneration |
|
Oromandibular dystonia, Difficulty walking, Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
Temtamy Syndrome |
|
Aortic aneurysm, Self-mutilation |
OMIM:218340 |
Rin2 Syndrome |
|
Aortic aneurysm, Cognitive impairment |
ORPHA:217335 |
Cerebrotendinous Xanthomatosis |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Somatic sensory dysfunction, Gait disturbance,... |
ORPHA:909 |
Prune1-Related Neurological Syndrome |
|
Inability to walk, Clonus, Elevated circulating creatine kinase concentration, Spastic tetrapares... |
ORPHA:544469 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma, Hyperuricemia |
OMIM:232220 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, Ataxia |
OMIM:300661 |
Phace Association |
|
Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal carotid artery, Patent duct... |
OMIM:606519 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hand tremor, Unsteady gait, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Dy... |
ORPHA:3041 |
Lipodystrophy, Familial Partial, Type 1 |
|
Coronary artery atherosclerosis, Hyperglycemia, Prominent superficial veins, Insulin-resistant di... |
OMIM:608600 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Increased circulating renin level, Decreased circulating cortisol level, Hyperkale... |
ORPHA:95409 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Aortic aneurysm |
OMIM:612422 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:616329 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular carcinoma, Hepatocellular adenoma, Hyperuricemia, Hypertriglyceridemia, Hyperlipid... |
ORPHA:79259 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia |
OMIM:300323 |
Oculodentodigital Dysplasia |
|
Spasticity, Tetraparesis, Ataxia, Joint contracture of the 5th finger, Paraparesis, Enamel hypopl... |
OMIM:164200 |
Takayasu Arteritis |
|
Vascular dilatation, Vasculitis, Ascending tubular aorta aneurysm, Arterial stenosis |
ORPHA:3287 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
Xanthinuria, Type Ii |
|
Hypouricemia, Increased circulating hypoxanthine concentration, Hyperxanthinemia |
OMIM:603592 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia, Tetraplegia, Ataxia |
ORPHA:1187 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411536 |
Addison Disease |
|
Thymoma, Hyperuricemia, Increased circulating renin level, Decreased circulating cortisol level, ... |
ORPHA:85138 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... |
OMIM:227810 |
Gaisböck Syndrome |
|
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... |
ORPHA:90041 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal sensory impairment, Gait disturbance, Hand tremor, Clasp-knife sign, Steppage gait, Babins... |
ORPHA:101076 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Paraparesis, Paraplegia, Hemiparesis |
ORPHA:79124 |
Glycogen Storage Disease Ic |
|
Hepatocellular carcinoma, Hyperuricemia, Hepatoblastoma, Hyperlipidemia, Xanthelasma |
OMIM:232240 |
Sjogren-Larsson Syndrome |
|
Spasticity, Flexion contracture, Enamel hypoplasia, Spastic paraparesis |
OMIM:270200 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hypermagnesemia, Hyperuricemia |
ORPHA:469 |
Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Glucose intolerance, Insulin resistanc... |
OMIM:617253 |
Leukodystrophy, Hypomyelinating, 3 |
|
Abnormal pyramidal sign, Spastic paraparesis, Appendicular spasticity, Joint contracture |
OMIM:260600 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Akinesia, Dystonia, Spastic paraparesis |
OMIM:300894 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Spasticity, Abnormal pyramidal sign, Limb ataxia, Hemiparesis, Ataxia, Tremor, Positive Romberg s... |
OMIM:105210 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hyperuricemia, Elevated circulating creatinine concentration |
OMIM:174000 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Hyperglycemia, Type I diabetes mellitus |
OMIM:606176 |
Multiple Carboxylase Deficiency |
|
Hyperammonemia, Ataxia, Spastic paraparesis |
ORPHA:148 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... |
OMIM:217095 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Aortic aneurysm, Double outlet right ventricle, Overriding aorta, Persistent left superior vena cava |
ORPHA:477817 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Hand apraxia, Inability to walk, Gait disturbance, Difficulty walking, Babinski sign, Lower limb ... |
ORPHA:280229 |
Congenital Heart Defects, Multiple Types, 6 |
|
Pulmonary artery atresia, Coarctation of aorta, Right aortic arch, Tetralogy of Fallot, Total ano... |
OMIM:613854 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Aortic aneurysm |
OMIM:620070 |
Alexander Disease Type Ii |
|
Spasticity, Ataxia, Rigidity, Palatal tremor, Babinski sign, Spastic paraparesis |
ORPHA:363722 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
Encephalocraniocutaneous Lipomatosis |
|
Spasticity, Lipodystrophy, Hemiparesis, Hemiplegia, Capillary hemangioma, Visceral angiomatosis, ... |
ORPHA:2396 |
Gaucher Disease, Type Iii |
|
Myoclonus, Ataxia, Spastic paraparesis |
OMIM:231000 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Hyperglycinemia, ... |
ORPHA:309854 |
Rift Valley Fever |
|
Paraparesis, Hemiparesis, Paralysis, Decerebrate rigidity |
ORPHA:319251 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Upper motor neuron dysfunction, Falls, Progressive spastic paraplegia, Loss of ambulation, Genera... |
ORPHA:329308 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Renal cell carcinoma, Papillary cystadenoma of the epididymis, Hyperuricemia |
ORPHA:93111 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia |
ORPHA:2769 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Myoclonic spasms, Spastic tetraplegia, Hypouricemia, Opisthotonus, Spastic tetraparesis |
OMIM:252150 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Myoclonic spasms, Spastic tetraplegia, Hypouricemia, Opisthotonus, Hypertonia |
OMIM:252160 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Aortic aneurysm, Abnormal carotid artery morphology, Aortic dissection, Vas... |
ORPHA:3342 |
Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic dissection, A... |
OMIM:614816 |
Igg4-Related Pachymeningitis |
|
Paraparesis, Somatic sensory dysfunction, Elevated circulating C-reactive protein concentration |
ORPHA:449427 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Camptodactyly, Ataxia, Arthrogryposis-like hand anomaly, Umbilical hernia, Incoordination, Spasti... |
ORPHA:369891 |
Waardenburg Syndrome, Type 4A |
|
Ataxia, Spastic paraparesis |
OMIM:277580 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal pyramidal sign, Distal sensory impairment, Inability to walk, Ataxia, Impaired tandem ga... |
ORPHA:254930 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Pulmonary arteriovenous malformation, Hepatic arteriovenous malformation, Aortic aneurysm... |
OMIM:175050 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Dextrotransposition of the great arteries, Left superior vena cava drai... |
OMIM:619657 |
Renal Cysts And Diabetes Syndrome |
|
Reduced sperm motility, Hyperuricemia, Elevated circulating creatinine concentration |
OMIM:137920 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Broad-based gait, Spastic paraparesis |
ORPHA:391408 |
Loeys-Dietz Syndrome 2 |
|
Dilatation of mesenteric artery, Descending aortic dissection, Aortic root aneurysm, Generalized ... |
OMIM:610168 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Aortic aneurysm, Arterial dissection, Aortic dissection, Abnormal venous morphology, Vascular dil... |
ORPHA:1900 |
Congenital Contractural Arachnodactyly |
|
Aortic aneurysm |
ORPHA:115 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Diabetes mellitus, Anxiety, Irritability, Self-injurious behavior, Aggressi... |
ORPHA:449291 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Emotional lability, Aggressive behavior, Ascending tubular aorta aneurysm, Low frustration tolerance |
OMIM:309520 |
Epidermal Nevus Syndrome |
|
Lipoma, Spinal cord tumor, Progressive spastic paraparesis, Babinski sign, Hypertonia, Rhabdomyos... |
ORPHA:35125 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Truncal ataxia, Palatal tremor |
OMIM:113610 |
Macs Syndrome |
|
Aortic aneurysm, Dilation of Virchow-Robin spaces |
OMIM:613075 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Aortic aneurysm, Intracranial hemorrhage, Hypoglycemia, Arteriovenous malformation |
ORPHA:109 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Coarcta... |
ORPHA:99050 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Spasticity, Distal sensory impairment, Babinski sign, Arthrogryposis multiplex congenita, Poor fi... |
ORPHA:320375 |
Fructose Intolerance, Hereditary |
|
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia |
OMIM:229600 |
Hereditary Xanthinuria |
|
Hypouricemia, Hyperxanthinemia |
ORPHA:3467 |
Split Cord Malformation |
|
Paraparesis, Capillary hemangioma, Lipoma, Teratoma, Spinal cord tumor |
ORPHA:573278 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Stroke, Coronary artery stenosis, Type II diabetes mellitus |
OMIM:615812 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Aortic aneurysm, Cognitive impairment |
ORPHA:2990 |
Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
Mody |
|
Neonatal hypoglycemia, Glycosuria, Abnormal oral glucose tolerance, Hyperglycemia, Transient neon... |
ORPHA:552 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Gait disturbance, Hemiparesis, Ataxia, Cystathioninemia, Hyperhomocystinemia, Hypomethioninemia, ... |
ORPHA:395 |
Monosomy 18Q |
|
Aortic aneurysm, Left aortic arch with right descending aorta and right ductus arteriosus, Patent... |
ORPHA:1600 |
Aicardi-Goutières Syndrome |
|
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Difficulty walking, Chronic lymphatic l... |
ORPHA:51 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
7Q11.23 Microduplication Syndrome |
|
Aortic aneurysm, Anxiety, Self-injurious behavior, Patent ductus arteriosus, Aggressive behavior |
ORPHA:96121 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Lateral Meningocele Syndrome |
|
Aortic aneurysm, Patent ductus arteriosus |
OMIM:130720 |
Foix-Alajouanine Syndrome |
|
Frequent falls, Paresthesia, Somatic sensory dysfunction, Unsteady gait, Difficulty walking, Dyse... |
ORPHA:79093 |
Fixed Subaortic Stenosis |
|
Ascending tubular aorta aneurysm, Coarctation of aorta, Patent ductus arteriosus |
ORPHA:3092 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis |
OMIM:619338 |
Alport Syndrome |
|
Aortic aneurysm, Abnormal aortic morphology, Renal glomerular foam cells |
ORPHA:63 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Aortic root aneurysm, Transposition of the great arteries |
OMIM:619910 |
Loeys-Dietz Syndrome 3 |
|
Subarachnoid hemorrhage, Dilatation of the sinus of Valsalva, Descending aortic dissection, Aorti... |
OMIM:613795 |
Familial Renal Glucosuria |
|
Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia, Glycosuria |
ORPHA:69076 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic tetraparesis, Progressive spastic paraparesis, Spastic ataxia |
ORPHA:496756 |
Alkaptonuria |
|
Aortic aneurysm, Coronary artery calcification |
OMIM:203500 |
Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Ascending tubular aorta aneurysm |
OMIM:620067 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Spasticity, Ankle clonus, Spastic dysarthria, Speech apraxia, Impaired vibratory sensation, Slurr... |
ORPHA:101000 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... |
ORPHA:411634 |
Loeys-Dietz Syndrome |
|
Aortic aneurysm, Arterial tortuosity, Arterial dissection, Aortic dissection, Patent ductus arter... |
ORPHA:60030 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Anomalous origin of right pulmonary artery from ascending aorta, Patent duc... |
OMIM:610338 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Abnormal internal carotid artery morphology, Thoracic aortic aneurysm, Cognitive impa... |
ORPHA:365 |
Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm |
OMIM:166200 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Abnormal B-type natriuretic peptide concen... |
ORPHA:97214 |
Loeys-Dietz Syndrome 1 |
|
Aortic root aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Dilatation of the ... |
OMIM:609192 |
Kniest Dysplasia |
|
Inguinal hernia, Gait disturbance, Abnormal cartilage collagen, Umbilical hernia, Hip contracture |
OMIM:156550 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Aortic aneurysm |
OMIM:182212 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Violent behavior, Emotional lability, Suicidal ideation, Aortic aneurysm, Cognitive impairment, A... |
OMIM:619475 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Vascular tortuosity, Ascending tubular aorta aneurysm |
OMIM:219100 |
Argininemia |
|
Frequent falls, Hyperammonemia, Hyperargininemia, Progressive spastic quadriplegia, Spastic gait,... |
OMIM:207800 |
Familial Bicuspid Aortic Valve |
|
Ascending aortic dissection, Aortic arch aneurysm, Thoracic aorta calcification, Coarctation of a... |
ORPHA:402075 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aggressive behavior, Aortic root aneurysm |
OMIM:301039 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thoracic aortic aneurysm, Stroke, Ascending tubular aorta aneurysm, Aortic root aneurysm |
ORPHA:536467 |
Chromosome 18Q Deletion Syndrome |
|
Ascending tubular aorta aneurysm, Patent ductus arteriosus |
OMIM:601808 |
Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Anxiety, Aggressive behavior, Aortic root aneurysm |
ORPHA:404443 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic aneurysm, Truncus arteriosus |
ORPHA:261330 |
Say-Barber-Miller Syndrome |
|
Ankle clonus, Knee flexion contracture, Impaired neutrophil chemotaxis, Spastic paraparesis, Lowe... |
ORPHA:3132 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Persistent left superior vena cava |
OMIM:609008 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Spasticity, Spastic tetraplegia, Torticollis, Distal sensory impairment, Ataxia, Myoclonus, Arthr... |
OMIM:609136 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aortic... |
OMIM:300989 |
Tuberous Sclerosis Complex |
|
Aortic aneurysm, Anxiety, Self-injurious behavior, Pulmonary lymphangiomyomatosis, Aggressive beh... |
ORPHA:805 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Arthrogryposis multiplex congenita, Lissencephaly, Abnormal cartilage matrix, Pachygyria |
ORPHA:86822 |
Heterotaxy, Visceral, 5, Autosomal |
|
Pulmonary artery atresia, Coarctation of aorta, Total anomalous pulmonary venous return, Dextrotr... |
OMIM:270100 |
Oculodentodigital Dysplasia |
|
Spasticity, Camptodactyly of finger, Gait disturbance, Ataxia, Umbilical hernia, Abnormal dental ... |
ORPHA:2710 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Umbilical hernia, Spastic paraparesis, Bilateral camptodactyly |
OMIM:619234 |
Teebi Hypertelorism Syndrome 1 |
|
Anxiety, Panic attack, Aortic root aneurysm |
OMIM:145420 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Aortic aneurysm, Intraventricular hemorrhage, Anxiety |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Aortic aneurysm, Intraventricular hemorrhage, Anxiety |
ORPHA:363958 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Descending aortic dissection, Arterial dissection, Ascending tubular... |
ORPHA:558 |
Aneurysm-Osteoarthritis Syndrome |
|
Dilatation of the sinus of Valsalva, Arterial tortuosity, Arterial dissection, Dilatation of the ... |
ORPHA:284984 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Aortic aneurysm, Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Subdural hemorrhage |
ORPHA:536545 |
Adrenomyeloneuropathy |
|
Spasticity, Spastic gait, Distal sensory impairment, Dysesthesia, Abnormal circulating fatty-acid... |
ORPHA:139399 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Aortic aneurysm |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Aortic aneurysm |
ORPHA:352665 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... |
ORPHA:3337 |
Autosomal Dominant Cutis Laxa |
|
Aortic aneurysm, Peripheral pulmonary artery stenosis, Coarctation of aorta, Dilatation of the ve... |
ORPHA:90348 |
Osteogenesis Imperfecta |
|
Aortic root aneurysm, Cerebral hemorrhage, Aortic aneurysm, Arterial dissection, Aortic dissection |
ORPHA:666 |
Larsen Syndrome |
|
Aortic aneurysm |
OMIM:150250 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Generalized arterial tortuosity, Ischemic stroke, Carotid artery dissection... |
OMIM:208050 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm |
OMIM:619543 |
Hurler Syndrome |
|
Abnormal pyramidal sign, Camptodactyly of finger, Hernia, Cerebral palsy, Spastic paraparesis |
ORPHA:93473 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Thoracic aortic aneurysm, Patent ductus arteriosus |
OMIM:619351 |
Biotinidase Deficiency |
|
Hyperammonemia, Ataxia, Spastic paraparesis |
ORPHA:79241 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Aortic aneurysm, Cognitive impairment, Arteriovenous fistulas o... |
ORPHA:286 |
Heterotaxy, Visceral, 12, Autosomal |
|
Pulmonary artery atresia, Coarctation of aorta, Congenitally corrected transposition of the great... |
OMIM:619702 |
Fontaine Progeroid Syndrome |
|
Aortic aneurysm, Prominent superficial veins, Patent ductus arteriosus, Neonatal death |
OMIM:612289 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ascending tubular aorta aneurysm |
ORPHA:453499 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm |
ORPHA:3093 |
Kawasaki Disease |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:2331 |
Lethal Kniest-Like Dysplasia |
|
Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Aortic root aneurysm, Carotid artery stenosis |
OMIM:618000 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Leukemia, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix |
OMIM:245650 |
Cap Myopathy |
|
Aortic root aneurysm |
ORPHA:171881 |
Laubry-Pezzi Syndrome |
|
Dilatation of the sinus of Valsalva, Ascending tubular aorta aneurysm, Abnormal coronary artery m... |
ORPHA:99094 |
Scheie Syndrome |
|
Cerebral palsy, Spastic paraparesis |
ORPHA:93474 |
Adult-Onset Still Disease |
|
Cartilage destruction, Abnormal circulating lipid concentration, Elevated circulating C-reactive ... |
ORPHA:829 |
Eales Disease |
|
Spastic paraparesis |
ORPHA:40923 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Ascending tubular aorta aneurysm |
ORPHA:536471 |
Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm |
ORPHA:444072 |
Yuan-Harel-Lupski Syndrome |
|
Double outlet right ventricle, Aortic root aneurysm |
OMIM:616652 |
Neonatal Marfan Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm |
ORPHA:284979 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Coarctation of aorta, Aortic root aneurysm, Hypoplastic aortic arch, Anxiety, Peripheral pulmonar... |
OMIM:617506 |
Koolen-De Vries Syndrome |
|
Patent ductus arteriosus, Anxiety, Aortic root aneurysm, Conspicuously happy disposition |
OMIM:610443 |
Viss Syndrome |
|
Epidural hemorrhage, Aortic root aneurysm, Left aortic arch with retroesophageal right subclavian... |
OMIM:619472 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Irritability, Type II diabetes mellitus, Aortic root aneurysm |
OMIM:618891 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Aortic dissection, Aortic root ane... |
OMIM:154700 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic atherosclerotic lesion, Aortic root aneurysm, Intracranial hemorrhage, Coronary artery ath... |
ORPHA:363618 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm |
OMIM:130000 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Coarctation of aorta, Aortic root aneurysm |
OMIM:617602 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Coarctation of aorta, Self-injurious behavior, Ascending tubular aorta aneurysm, Patent ductus ar... |
OMIM:612474 |
Contractural Arachnodactyly, Congenital |
|
Patent ductus arteriosus, Aortic root aneurysm |
OMIM:121050 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Diabetes mellitus, Varicose veins, Carotid artery stenosis, Prominent veins... |
ORPHA:536532 |
Fanconi Anemia, Complementation Group E |
|
Leukemia, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormal cartilage morphology, Paresthesia |
ORPHA:93284 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Aortic root aneurysm, Generalized arterial tortuosity, Arterial tort... |
OMIM:614437 |
Fanconi Anemia, Complementation Group A |
|
Leukemia, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Autosomal Dominant Polycystic Kidney Disease |
|
Abnormal systemic arterial morphology, Dilatation of the cerebral artery, Aortic root aneurysm |
ORPHA:730 |
Phace Syndrome |
|
Coarctation of aorta, Aortic root aneurysm, Tetralogy of Fallot, Abnormal carotid artery morpholo... |
ORPHA:42775 |
Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin |
OMIM:615816 |
Kniest Dysplasia |
|
Abnormal cartilage collagen, Flexion contracture of finger |
ORPHA:485 |
Moderate Hemophilia A |
|
Cartilage destruction, Hip contracture |
ORPHA:169805 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm |
ORPHA:230851 |
Sotos Syndrome |
|
Neonatal hypoglycemia, Aortic aneurysm, Anxiety, Patent ductus arteriosus, Aggressive behavior |
ORPHA:821 |
Cockayne Syndrome Type 3 |
|
Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cognitive impairment, ... |
ORPHA:90324 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Coarctation of aorta, Aortic arch aneurysm, Anxiety, Arterial dissection, Hyperinsulinemia, Gluco... |
ORPHA:99413 |
Turner Syndrome |
|
Coarctation of aorta, Aortic arch aneurysm, Anxiety, Arterial dissection, Hyperinsulinemia, Gluco... |
ORPHA:881 |
Mosaic Monosomy X |
|
Coarctation of aorta, Aortic arch aneurysm, Anxiety, Arterial dissection, Hyperinsulinemia, Gluco... |
ORPHA:99228 |
Monosomy X |
|
Coarctation of aorta, Aortic arch aneurysm, Anxiety, Arterial dissection, Hyperinsulinemia, Gluco... |
ORPHA:99226 |
Blau Syndrome |
|
Aortic aneurysm, Large vessel vasculitis |
ORPHA:90340 |
Fanconi Anemia, Complementation Group D2 |
|
Leukemia, Prolonged G2 phase of cell cycle |
OMIM:227646 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
Juvenile Idiopathic Arthritis |
|
Cartilage destruction |
ORPHA:92 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm |
OMIM:616914 |
Zimmermann-Laband Syndrome 1 |
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Patent ductus arteriosus, Aortic arch aneurysm, Aortic root aneurysm |
OMIM:135500 |
Cutis Laxa, Autosomal Recessive, Type Iid |
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Ascending tubular aorta aneurysm |
OMIM:617403 |
Loeys-Dietz Syndrome 5 |
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Ascending aortic dissection, Aortic root aneurysm |
OMIM:615582 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Aortic root aneurysm |
OMIM:245600 |
Opitz Gbbb Syndrome |
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Patent ductus arteriosus, Coarctation of aorta, Aortic root aneurysm, Persistent left superior ve... |
ORPHA:2745 |
Multiple Osteochondromas |
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Rib exostoses, Somatic sensory dysfunction, Scapular exostoses, Abnormal cartilage morphology, Os... |
ORPHA:321 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Aortopulmonary window, Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic ro... |
OMIM:620025 |
Restrictive Dermopathy |
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Ascending tubular aorta aneurysm, Patent ductus arteriosus, Transposition of the great arteries |
ORPHA:1662 |
Williams Syndrome |
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Stroke, Abnormal cerebral vascular morphology, Tetralogy of Fallot, Aortic arch aneurysm, Anxiety... |
ORPHA:904 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Aortic root aneurysm |
ORPHA:280633 |
X Small Rings |
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Aortic root aneurysm |
ORPHA:96201 |
1P36 Deletion Syndrome |
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Self-injurious behavior, Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot |
ORPHA:1606 |
Charge Syndrome |
|
Patent ductus arteriosus, Aortic arch aneurysm, Interrupted aortic arch, Tetralogy of Fallot |
ORPHA:138 |
Hypermobile Ehlers-Danlos Syndrome |
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Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection |
ORPHA:285 |
Reactive Arthritis |
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Cartilage destruction, Enthesitis |
ORPHA:29207 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Patent ductus arteriosus, Hyperglycemia, Aortic root aneurysm |
ORPHA:444077 |
Au-Kline Syndrome |
|
Aortic root aneurysm |
OMIM:616580 |
Microphthalmia, Syndromic 2 |
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Umbilical hernia, Contracture of the proximal interphalangeal joint of the 3rd toe, Flexion contr... |
OMIM:300166 |
Alkaptonuria |
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Cartilage destruction, Calcification of cartilage |
ORPHA:56 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Self-mutilation, Aortic root aneurysm, Tetralogy of Fallot, Patent ductus arteriosus, Aggressive ... |
OMIM:607872 |
Classical Ehlers-Danlos Syndrome |
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Arterial dissection, Dilatation of the cerebral artery, Arteriovenous fistula, Aortic root aneurysm |
ORPHA:287 |