Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... |
OMIM:128230 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy |
OMIM:618683 |
L-2-Hydroxyglutaric Aciduria |
|
Abnormality of extrapyramidal motor function, Infectious encephalitis, Spastic tetraparesis |
ORPHA:79314 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykinesia, Apr... |
ORPHA:240103 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia |
ORPHA:210571 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Crigler-Najjar Syndrome |
|
Lethargy, Jaundice, Infectious encephalitis |
ORPHA:205 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... |
ORPHA:363654 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... |
OMIM:300423 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... |
ORPHA:100984 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Ve... |
ORPHA:248111 |
Dystonia 16 |
|
Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Retr... |
OMIM:612067 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:600116 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation |
ORPHA:306669 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... |
OMIM:618418 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... |
OMIM:617225 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:605909 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity |
ORPHA:521406 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia |
OMIM:609161 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia |
OMIM:618824 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Bradykinesia, Myoclo... |
OMIM:607136 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis |
OMIM:619052 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... |
OMIM:615528 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia |
OMIM:618317 |
Parkinson Disease 22, Autosomal Dominant |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:616710 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
ORPHA:306692 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia |
ORPHA:228169 |
Dystonia 12 |
|
Tremor, Torticollis, Bradykinesia, Parkinsonism |
OMIM:128235 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Zika Virus Disease |
|
Miscarriage, Maculopapular exanthema, Skin rash, Meningitis, Arthritis, Conjunctivitis, Myelitis,... |
ORPHA:448237 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia |
ORPHA:71517 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Hypertonia, Cyanotic episode, Myoclonus |
OMIM:610992 |
Nipah Virus Disease |
|
Tremor, Recurrent pharyngitis, Infectious encephalitis, Myoclonus |
ORPHA:99825 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus |
OMIM:619862 |
Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetr... |
OMIM:183090 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Typhoid |
|
Ataxia, Skin rash, Tremor, Hypertonia, Lethargy, Infectious encephalitis |
ORPHA:99745 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... |
ORPHA:238455 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity |
OMIM:618878 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... |
OMIM:615157 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Recurrent respiratory infections, Babinski sign |
OMIM:619063 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
ORPHA:240085 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Bradykinesia, Ataxia, Rigidity |
OMIM:617836 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Rigidity, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Action tremor |
OMIM:606438 |
C1Q Deficiency 3 |
|
Discoid lupus rash, Recurrent bacterial meningitis |
OMIM:620322 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Hemiparesis, Dandy-Walker malformation, Infectious encephalitis, Ventriculomegaly |
ORPHA:2481 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia |
OMIM:261640 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dilated... |
OMIM:619725 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Tremor, Myocarditis, Lethargy, Meningitis, Infectious encephalitis |
ORPHA:83317 |
Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski... |
OMIM:109150 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia |
OMIM:617384 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Spasticity |
OMIM:617435 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Bradykinesia, Spastic tetraplegia, Spastic paraparesis |
OMIM:615643 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... |
OMIM:618982 |
Cerebral Visual Impairment |
|
Cerebral palsy, Hydrocephalus, Unusual CNS infection, Clumsiness, Oculomotor apraxia, Meningitis,... |
ORPHA:447788 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Brad... |
OMIM:603516 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Cogwheel rigidity, Bradykinesia, Optic neuritis, Parkinsonism with favorable response to ... |
ORPHA:254886 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Lateral v... |
OMIM:617854 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Infectious encephalitis, Arthritis |
ORPHA:42642 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia, Truncal ataxia, Episod... |
OMIM:601338 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Avian Influenza |
|
Miscarriage, Pneumonia, Meningitis, Hepatitis, Hypoxemia, Conjunctivitis, Infectious encephalitis... |
ORPHA:454836 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Unusual CNS infection, Bronchiectasis, Hepatitis,... |
ORPHA:1163 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Recurrent pharyngitis, Fulminant hepatitis, Severe Epstein Barr... |
OMIM:308240 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... |
OMIM:300055 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Aspiration pneumonia... |
ORPHA:53351 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Recurrent urinary tract infections, Pneumonia, Osteomyelitis, Ski... |
ORPHA:36234 |
Listeriosis |
|
Tremor, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis, Brain abscess, Unusua... |
ORPHA:533 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... |
OMIM:606324 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Reynolds Syndrome |
|
Telangiectasia of the skin, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Generaliz... |
ORPHA:779 |
Meningococcal Meningitis |
|
Skin rash, Lethargy, Infectious encephalitis, Petechiae, Purpura |
ORPHA:33475 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:98755 |
Multiple System Atrophy |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:102 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Tubulointerstitial... |
ORPHA:139402 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
Hartnup Disease |
|
Skin rash, Cutaneous photosensitivity, Ataxia, Infectious encephalitis |
ORPHA:2116 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Tremor, Rigidity, Bradykinesia, Limb hypertonia |
ORPHA:70594 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ataxia, Tremor, Patent ductus arteriosus, Abnormality of extrap... |
ORPHA:354 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Poor fi... |
ORPHA:399 |
Legionnaires Disease |
|
Pericarditis, Ataxia, Recurrent pharyngitis, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infe... |
ORPHA:549 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Jaundice, Colitis, Erythroderma, Ecchymosis, Bruising suscept... |
ORPHA:540 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... |
OMIM:618877 |
Whipple Disease |
|
Myositis, Pericarditis, Ataxia, Myocarditis, Hydrocephalus, Abnormal pyramidal sign, Uveitis, Art... |
ORPHA:3452 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:98933 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia |
OMIM:619911 |
Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb ataxia, Ga... |
ORPHA:227510 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic paraparesis, Spasticity... |
ORPHA:289560 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Recurrent upper respiratory tract infections... |
ORPHA:225147 |
Lyme Disease |
|
Arthritis, Meningitis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... |
OMIM:300623 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Infectious encephalitis |
ORPHA:1194 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Ataxia, Jaundice, Tetraplegia, Hypertonia, Hemiplegia, Meningitis, Infectious encephalitis |
OMIM:267700 |
Cln3 Disease |
|
Bradykinesia, Extrapyramidal muscular rigidity, Ataxia, Acne |
ORPHA:228346 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Meningitis, Infectious encephalitis, Ventriculomegaly |
ORPHA:292 |
Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Poor fine motor coordination |
ORPHA:171442 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Ataxia, Skin rash, Jaundice, Tetraplegia, Hypertonia, Hemiplegia, Meningitis, Infectious encephal... |
OMIM:603553 |
Hereditary Methemoglobinemia |
|
Cyanosis, Spastic tetraplegia, Athetosis, Hypertonia, Spasticity |
ORPHA:621 |
Rift Valley Fever |
|
Miscarriage, Skin rash, Paralysis, Paraparesis, Jaundice, Severe viral infection, Hepatitis, Uvei... |
ORPHA:319251 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Benign Familial Infantile Epilepsy |
|
Hypertonia, Limb myoclonus, Cyanosis |
ORPHA:306 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Japanese Encephalitis |
|
Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Choreoathetosis,... |
ORPHA:79139 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Hypermanganesemia With Dystonia 2 |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk... |
OMIM:617013 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Chronic hepatitis, Hypoxemia, Ankle clonus, Recurrent bacterial infections, Sclerosing... |
OMIM:308230 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Pustule, Hemiplegia/hemiparesis, Angioedema, Erythema, Orchitis, Urticar... |
ORPHA:761 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Childhood-Onset Nemaline Myopathy |
|
Bradykinesia, Poor fine motor coordination, Clumsiness |
ORPHA:171439 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Acrocyanos... |
OMIM:602473 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Bradykinesia, Truncal ataxia, In... |
OMIM:258450 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... |
ORPHA:98808 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... |
OMIM:300755 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Lymphoproliferative Syndrome 2 |
|
Severe varicella zoster infection, Recurrent pneumonia, EBV encephalitis, Uveitis, Persistent EBV... |
OMIM:615122 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased VLDL ... |
OMIM:144650 |
Poliomyelitis |
|
Paralysis, Paraparesis, Meningitis, Hyperkinetic movements, Fasciculations, Infectious encephalit... |
ORPHA:2912 |
New-Onset Refractory Status Epilepticus |
|
Infectious encephalitis |
ORPHA:363558 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyramidal sign, Tetr... |
ORPHA:58 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, Slowed slurred speech |
OMIM:619827 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Ataxia, Involuntary movements, Severe parainfluenza infection, Disseminated vira... |
ORPHA:83597 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slurred speech... |
ORPHA:240071 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Parkinsonism |
ORPHA:412066 |
Neonatal Alloimmune Neutropenia |
|
Miscarriage, Pneumonia, Severe infection, Jaundice, Meningitis |
ORPHA:464370 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Meningitis, M... |
ORPHA:781 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Spastic tetraparesis, Lateral ventricle dilatation, Hypertonia, Myoclonus, Cyanotic episode |
ORPHA:284417 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Infectious encephalitis |
ORPHA:3386 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... |
ORPHA:97349 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Vocal cord paralysis |
OMIM:150260 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Manganese Poisoning |
|
Postural tremor, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor... |
ORPHA:306682 |
Microsporidiosis |
|
Brain abscess, Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenit... |
ORPHA:2552 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia |
ORPHA:240094 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Limb ataxia, Titubation, Clumsiness, Gait ataxia, Bradykinesia, Myoclonus |
ORPHA:98768 |
Ethylmalonic Encephalopathy |
|
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Acrocyanosis, Pete... |
ORPHA:51188 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Meningitis, Seve... |
ORPHA:31204 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Patent ductus arteriosus, Opisthotonus, Hypertonia, Recurrent otitis media |
ORPHA:3304 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Spasticity |
ORPHA:98760 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Spastici... |
ORPHA:171695 |
Perry Syndrome |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:168605 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Limb myoclonus, Clonus |
ORPHA:1949 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... |
OMIM:612953 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Miscarriage, Pneumonia, Glomerulonephritis, Orchit... |
ORPHA:1304 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Ataxia, Acne, Orchitis, Retrobulbar opti... |
ORPHA:117 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Skin rash, Keratitis, Hemiplegia/hemiparesis, Erythema, Uveitis, Spas... |
ORPHA:464 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Cyanosis, Opisthotonus |
OMIM:250800 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Chiari Malformation Type Ii |
|
Hydrocephalus, Cyanosis, Ataxia, Opisthotonus |
OMIM:207950 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Zygomycosis |
|
Brain abscess, Fasciitis, Sinusitis, Unusual skin infection, Pericarditis, Gastritis, Pustule, In... |
ORPHA:73263 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Cyanosis, Pneumonia, Hypoxemia |
OMIM:610910 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Recurrent upper respiratory tract infections |
OMIM:263000 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkineti... |
ORPHA:391428 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Recurrent urinary tract infections, Spastic paraplegia, Infectious encephalitis |
ORPHA:847 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Frequent falls |
ORPHA:75567 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, P... |
OMIM:157640 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... |
OMIM:610217 |
Congenital Heart Block |
|
Patent ductus arteriosus, Cyanosis |
ORPHA:60041 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:168600 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Ataxia, Pneumonia, Pustule, Hemiparesis, Lethargy, Infectious ... |
ORPHA:68 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti... |
OMIM:233600 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Recurrent herpes, Inflammatory abnormality of the skin, Eczema,... |
ORPHA:391487 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... |
OMIM:601457 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Ataxia, Opisthotonus, Choreoathetosis, Gait ataxia, Ventriculomegaly, Limb hypertonia |
OMIM:619580 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Erythema, Crusting erythematous dermatitis,... |
ORPHA:324625 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Blepharospasm, Bradykinesia |
ORPHA:683 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus |
OMIM:168601 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis, Pneumonia |
ORPHA:70587 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Peritonitis, Erythema, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acrocyanosis,... |
ORPHA:343 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Rigidity, Jaundice, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... |
ORPHA:309854 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic tinea infection, Chronic oral candidiasis, Onychomycosis, Deep dermatophytosis, Meningitis |
OMIM:212050 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bradykinesia, Hypertoni... |
ORPHA:254892 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus |
ORPHA:335 |
Young-Onset Parkinson Disease |
|
Tremor, Spasticity, Rigidity, Bradykinesia |
ORPHA:2828 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
ORPHA:411602 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Immunodeficiency 66 |
|
Pustule, Meningitis, Recurrent skin infections |
OMIM:618847 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... |
OMIM:240500 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Acrocyanosis, Myositis |
ORPHA:3165 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Truncal ataxia, Intention tremor |
OMIM:614407 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Intention tremor |
ORPHA:93256 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Lateral ventricle dilatation, Cyanosis, Ventriculomegaly |
ORPHA:488627 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:615530 |
Cysticercosis |
|
Iridocyclitis, Ataxia, Infectious encephalitis, Upper motor neuron dysfunction |
ORPHA:1560 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Erythema, Abnormality of extrapyramidal motor function, Prolonged neonatal jaundice, ... |
OMIM:225750 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:2004 |
Sepsis In Premature Infants |
|
Cyanosis, Disseminated viral infection, Jaundice, Severe infection, Enterocolitis, Meningitis, Pe... |
ORPHA:90051 |
Rett Syndrome |
|
Bradykinesia, Cholecystitis, Limb apraxia |
ORPHA:778 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Patent ductus arteriosus, Cyanosis |
ORPHA:860 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... |
OMIM:234200 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Bradykinesia, Babinski sign, Spastic tetraparesis |
OMIM:614924 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Recurrent respiratory infections, Cyanosis |
ORPHA:2257 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Cyanosis, Telangiectasia, Hypoxemia, Recurrent abscess formation, Bacterial endoca... |
ORPHA:2038 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Immunodeficiency 46 |
|
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Conju... |
ORPHA:3392 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Cutis marmorata, Skin rash, Hemiplegia/hemi... |
ORPHA:183 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Ataxia, Hypertonia, Myoclonus, Death in childhood, Recurrent lower re... |
OMIM:618426 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Hydrocephalus, Cyanosis |
ORPHA:3309 |
Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis |
OMIM:265120 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... |
ORPHA:48435 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Cerebral palsy, Ataxia, Skin rash, Hemiplegia/hemiparesis, Angioedema, Uveitis, Inf... |
ORPHA:36412 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Recurrent lower respiratory tract infections, Cyanosis, Infectious encephalitis, Recurrent upper ... |
ORPHA:293987 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis, Bronchiectasis |
ORPHA:79126 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... |
ORPHA:83471 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis, Chronic sinusitis |
ORPHA:137914 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Cyanosis, Nonspecific interstitial pneumonia, Hypoxemia, Neonatal death |
OMIM:610921 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Vascular skin abnormality, Cerebral arteriovenous malformation, Telangiectasia |
ORPHA:137667 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Meningitis, Recurrent sinusitis |
OMIM:619707 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Spastic paraplegia |
ORPHA:896 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurrent fungal infec... |
OMIM:300400 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Skin rash, Macular purpura |
ORPHA:49566 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis |
ORPHA:444013 |
Double Outlet Right Ventricle |
|
Truncus arteriosus, Cyanosis |
ORPHA:3426 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Cyanosis |
ORPHA:159 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Ataxia |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Ataxia |
ORPHA:98914 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Brain abscess, Cyanosis, Nail bed telangiectasia, Cerebral arteriove... |
OMIM:600376 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Aicardi-Goutières Syndrome |
|
Myositis, Extrapyramidal muscular rigidity, Cutis marmorata, Chilblains, Tremor, Hemiplegia/hemip... |
ORPHA:51 |
Fucosidosis |
|
Abnormal pyramidal sign, Spastic tetraplegia, Spasticity, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Choreoacanthocytosis |
|
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... |
ORPHA:2388 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Truncus arteriosus, Cyanosis |
OMIM:617478 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis |
OMIM:609454 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Brain abscess, Cyanosis, Telangiectasia of the skin, Nail bed telang... |
OMIM:187300 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Nonspecific interstitial pneumonia, Recurrent pneumonia, Bronchiectasis, Hypoxemia, Int... |
OMIM:610913 |
Autoinflammation With Infantile Enterocolitis |
|
Urticaria, Meningitis, Enterocolitis, Skin rash |
OMIM:616050 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Cerebral arteriovenous malformation, Lip telangiectasia, T... |
OMIM:610655 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... |
ORPHA:70593 |
Progressive Multifocal Leukoencephalopathy |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemiplegia/hemiparesis, Dysmetria, ... |
ORPHA:217260 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Ataxia, Babinski sign, Tongue fasciculations, Lethargy, Spasticity |
OMIM:252010 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis |
OMIM:601104 |
Ethylene Glycol Poisoning |
|
Cyanosis, Ataxia, Gastritis, Slurred speech, Myoclonus |
ORPHA:31826 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Erythema, Hepatitis, Arthritis, Meni... |
ORPHA:829 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Cyanosis, Recurrent pneumonia |
ORPHA:1329 |
Unilateral Polymicrogyria |
|
Cyanosis, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, ... |
ORPHA:268943 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cyanosis, Patent ductus arteriosus, Recurrent pneumonia, Bronch... |
ORPHA:980 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
Myasthenia Gravis |
|
Myositis, Hepatitis, Rheumatoid arthritis, Acrocyanosis, Hashimoto thyroiditis |
ORPHA:589 |
Follicular Lymphoma |
|
Meningitis |
ORPHA:545 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoriasiform dermatitis, Hepatitis, ... |
ORPHA:37042 |
Parkes Weber Syndrome |
|
Prominent superficial blood vessels, Paraplegia, Cerebral arteriovenous malformation |
ORPHA:90307 |
Cinca Syndrome |
|
Retrobulbar optic neuritis, Uveitis, Urticaria, Inflammatory abnormality of the eye, Meningitis, ... |
ORPHA:1451 |
Arachnoiditis |
|
Hydrocephalus, Meningitis |
ORPHA:137817 |
Cinca Syndrome |
|
Skin rash, Arthritis, Meningitis, Uveitis |
OMIM:607115 |
Histiocytoid Cardiomyopathy |
|
Hemiplegia, Lethargy, Hydrocephalus, Cyanosis |
ORPHA:137675 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... |
ORPHA:169090 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Congenital Tracheomalacia |
|
Cyanosis, Pneumonia, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Bron... |
ORPHA:95430 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Patent ductus arteriosus, Cyanosis, Aortopulmonary window |
ORPHA:99050 |
Tarp Syndrome |
|
Athetoid cerebral palsy, Cyanosis |
ORPHA:2886 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
Esophageal Atresia |
|
Recurrent respiratory infections, Cyanosis, Hypertonia, Esophagitis, Vocal cord paresis |
ORPHA:1199 |
Angiostrongyliasis |
|
Unusual CNS infection, Meningitis, Ventriculomegaly |
ORPHA:74 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Eczema, Inflammatory abnormality of the eye, Otitis ... |
ORPHA:379 |
Gorham-Stout Disease |
|
Torticollis, Osteomyelitis, Meningitis |
ORPHA:73 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Double Outlet Left Ventricle |
|
Patent ductus arteriosus, Cyanosis |
ORPHA:3427 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Cyanosis |
ORPHA:555874 |
Meckel Syndrome 14 |
|
Cyanosis |
OMIM:619879 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Acrocyanosis, Incoordination |
OMIM:223900 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis |
OMIM:612260 |
Phace Syndrome |
|
Hemiplegia/hemiparesis, Dandy-Walker malformation, Cerebral arteriovenous malformation |
ORPHA:42775 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... |
ORPHA:809 |
Eisenmenger Syndrome |
|
Brain abscess, Cyanosis, Patent ductus arteriosus, Aortopulmonary window, Hypoxemia, Bacterial en... |
ORPHA:97214 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Acrocyanosis, Ataxia |
ORPHA:1764 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Cyanosis, Pneumonia |
ORPHA:99104 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Patent ductus arteriosus, Cyanosis, Hydrocephalus |
OMIM:306955 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Coccidioidal meningitis, Erythema nodosum, Inv... |
ORPHA:228123 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Cyanosis |
OMIM:261740 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Paralysis, Tremor, Unusual CNS infection, Hyperkinetic movements,... |
ORPHA:297 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:99106 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Cerebral arteriovenous malformation, Telangiectasia |
OMIM:175050 |
Pulmonary Alveolar Microlithiasis |
|
Hypoxemia, Cyanosis, Bronchiectasis, Oxygen desaturation on exertion |
ORPHA:60025 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Cyanosis, Truncus arteriosus, Aortopulmonary window |
ORPHA:2299 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Ataxia, Esophagitis, Gait ataxia |
ORPHA:2896 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Recurrent respiratory infections, Cerebral arteriovenous malformation, Recurre... |
OMIM:150230 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Cyanosis, Pneumonia |
ORPHA:99103 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Sinusitis, Eczema, Keratitis, Urticaria, Spontaneous hematomas,... |
ORPHA:906 |
Acute Transverse Myelitis |
|
Invasive parasitic infection, Paraparesis, Babinski sign, Severe viral infection, Paraplegia, Dis... |
ORPHA:139417 |
Trichinellosis |
|
Skin rash, Babinski sign, Hemiparesis, Conjunctivitis, Hemiplegia, Lethargy, Meningitis |
ORPHA:863 |
Giant Cell Arteritis |
|
Pericarditis, Ataxia, Recurrent pharyngitis, Arthritis, Meningitis |
ORPHA:397 |
Poems Syndrome |
|
Acrocyanosis |
ORPHA:2905 |
Hydranencephaly |
|
Spastic diplegia, Opisthotonus, Lethargy, Meningitis, Ventriculomegaly |
ORPHA:2177 |
Congenital Tracheal Stenosis |
|
Patent ductus arteriosus, Cyanosis |
ORPHA:141127 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema... |
ORPHA:221 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Jaundice, Myocarditis, Hepatitis, Cheilitis, Arth... |
ORPHA:2331 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Recurrent infections, Inflammation of the large intestine, Vascul... |
OMIM:617718 |
Juvenile Polyposis Syndrome |
|
Brain abscess, Cerebral arteriovenous malformation, Mucosal telangiectasiae |
ORPHA:2929 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... |
ORPHA:900 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Cutis marmorata, Glomerulonephritis, Lymphocytic interstitial... |
ORPHA:289390 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Erythema, Peritonitis, Erysipelas, Arthritis, ... |
ORPHA:342 |
Truncus Arteriosus |
|
Patent ductus arteriosus, Cyanosis, Truncus arteriosus |
ORPHA:3384 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Osteoarthritis, Premature skin wrinkling, Generali... |
ORPHA:740 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... |
ORPHA:2968 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Pneumonia, Myocarditis, Severe infection, Severe viral infection, Hemiparesis, Sep... |
ORPHA:544482 |
Cryptococcosis |
|
Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Hydrocephalus, Prostatitis |
ORPHA:1546 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Eczema, Recurrent upper respiratory tract infections, Recurrent pneumonia, Ulce... |
OMIM:301000 |
Pituitary Dermoid And Epidermoid Cysts |
|
Abnormal central motor function, Meningitis |
ORPHA:91351 |
Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Erysipelas, Arthritis, Crohn's disease, Meningitis |
OMIM:249100 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... |
OMIM:600802 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Skin rash, Pustule, Myocarditis, Erythema, Malar rash, Vasculitis in the skin, Cutaneous ... |
ORPHA:50918 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Osteoarthritis, Ecchymosis, Acrocyanosis, Fragil... |
ORPHA:287 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Cyanosis |
ORPHA:216694 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Prostatitis, Urinary bladder i... |
ORPHA:449395 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Ventriculomegaly |
OMIM:303600 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Slurred speech, Enterocolitis, Endocardi... |
ORPHA:707 |
Goodpasture Syndrome |
|
Cyanosis, Glomerulonephritis |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Patent ductus arteriosus, Cyanosis |
ORPHA:99125 |
Leptospirosis |
|
Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Meningitis |
ORPHA:509 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis |
ORPHA:51608 |
Sacral Defect With Anterior Meningocele |
|
Hydrocephalus, Meningitis |
OMIM:600145 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconjunctivitis sicca, Osteoarthritis, Acrocyanosis |
ORPHA:285 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |