Small Cell Cancer Of The Lung |
|
Neoplasm of the lung |
OMIM:182280 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Herpes simplex encephalitis, Recurrent herpes |
OMIM:610551 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
Immunodeficiency 37 |
|
Recurrent infections, Infectious encephalitis, Colitis |
OMIM:616098 |
Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination |
ORPHA:88637 |
C1Q Deficiency 3 |
|
Recurrent bacterial meningitis, Discoid lupus rash |
OMIM:620322 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, CNS hy... |
OMIM:214400 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Usual interstitial pneumonia, Pulmonary fibrosis |
OMIM:616373 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, CNS hypomyelination, Cerebral hypomyelination, Aggressive behavior |
ORPHA:369939 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
CNS hypomyelination, Enterocolitis |
OMIM:620425 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Ch... |
OMIM:209920 |
Null Syndrome |
|
Demyelinating peripheral neuropathy, CNS hypomyelination, Peripheral demyelination |
ORPHA:280234 |
Nipah Virus Disease |
|
Anorexia, Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, CNS hypomyelination, Self-injurious behavior, Aggressive behavior |
OMIM:620023 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent otitis media, Recurrent infections, Herpes simplex encephalitis, Molluscum contagiosum,... |
OMIM:618982 |
Familial Spontaneous Pneumothorax |
|
Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
Leukodystrophy, Hypomyelinating, 11 |
|
CNS hypomyelination, Leukodystrophy |
OMIM:616494 |
Pandas |
|
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
Leukodystrophy, Childhood-Onset, Remitting |
|
Irritability, Leukodystrophy |
OMIM:619864 |
Kaya-Barakat-Masson Syndrome |
|
CNS hypomyelination, Irritability |
OMIM:619125 |
Zika Virus Disease |
|
Myelitis, Arthritis, Skin rash, Acute demyelinating polyneuropathy, Infectious encephalitis, Conj... |
ORPHA:448237 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior, Delayed CNS myelination |
OMIM:619031 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
CNS hypomyelination, Irritability |
OMIM:615281 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Pfapa Syndrome |
|
Arthritis, Recurrent pharyngitis, Infectious encephalitis |
ORPHA:42642 |
Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination |
OMIM:618910 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Recurrent urinary tract infections, Men... |
OMIM:307200 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
CNS demyelination, Emotional lability, Cerebral hypomyelination |
OMIM:603896 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
CNS hypomyelination, Leukodystrophy |
OMIM:617560 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
CNS hypomyelination |
OMIM:619688 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Obsessive-compulsive trait, CNS hypomyelination, Attention deficit hyperactivity disorder |
OMIM:619908 |
Aspergillosis |
|
Invasive pulmonary aspergillosis, Meningitis, Bronchiectasis, Sinusitis, Keratitis, Unusual CNS i... |
ORPHA:1163 |
Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
Leukodystrophy, Hypomyelinating, 15 |
|
CNS hypomyelination, Leukodystrophy, Dysphagia |
OMIM:617951 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Leukodystrophy |
OMIM:616370 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
CNS hypomyelination, Leukodystrophy |
ORPHA:527497 |
Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination |
OMIM:618559 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
CNS hypomyelination, Leukodystrophy, Dysphagia |
OMIM:607694 |
Pneumothorax, Primary Spontaneous |
|
Spontaneous pneumothorax |
OMIM:173600 |
Pulmonary Bullae Causing Pneumothorax |
|
Repeated pneumothoraces |
OMIM:265200 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Tongue thrusting, Emotional lability, Recurrent hand flapping, Impulsivity, Motor stereotypy, Del... |
OMIM:619580 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Severe Epstein Barr virus infection, Recurrent pharyngitis, Fulminant hepatitis, Recurrent respir... |
OMIM:308240 |
Developmental And Epileptic Encephalopathy 78 |
|
CNS hypomyelination |
OMIM:618557 |
Folinic Acid-Responsive Seizures |
|
Delayed myelination, Irritability, Cerebral hypomyelination |
ORPHA:79097 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Inappropriate laughter, CNS hypomyelination, Self-mutilation, Cerebral hypomyelina... |
OMIM:103050 |
Pelizaeus-Merzbacher Disease |
|
Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Depression, Dysph... |
OMIM:312080 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
Ddost-Cdg |
|
Recurrent ear infections, CNS hypomyelination |
ORPHA:300536 |
Scrub Typhus |
|
Myocarditis, Skin rash, Anterior uveitis, Meningitis, Infectious encephalitis |
ORPHA:83317 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral hypomyelination |
OMIM:300475 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
CNS hypomyelination, Delayed CNS myelination |
OMIM:616158 |
Lyme Disease |
|
Arthritis, Meningitis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
Hartnup Disease |
|
Emotional lability, Skin rash, Infectious encephalitis |
ORPHA:2116 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
CNS hypomyelination, Delayed CNS myelination |
OMIM:616577 |
Leukodystrophy, Hypomyelinating, 22 |
|
CNS hypomyelination |
OMIM:619328 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Myositis, Recurrent urinary tract infections, Skin rash, Arthritis, Meningitis, Seve... |
ORPHA:36234 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Menin... |
OMIM:614379 |
Developmental And Epileptic Encephalopathy 5 |
|
CNS hypomyelination |
OMIM:613477 |
Meningococcal Meningitis |
|
Anorexia, Irritability, Skin rash, Infectious encephalitis |
ORPHA:33475 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
CNS hypomyelination, Dysphagia, Leukodystrophy, Cerebral hypomyelination |
OMIM:614381 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
CNS hypomyelination, Leukodystrophy, Dysphagia |
ORPHA:447896 |
Poliomyelitis |
|
Anorexia, Irritability, Fatigable weakness of respiratory muscles, Agitation, Myelitis, Dysphagia... |
ORPHA:2912 |
Leukodystrophy, Hypomyelinating, 5 |
|
CNS hypomyelination, Onion bulb formation, Leukodystrophy |
OMIM:610532 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
CNS hypomyelination |
OMIM:615760 |
Congenital Enterovirus Infection |
|
Myocarditis, Irritability, Skin rash, Meningitis, Hepatitis, Infectious encephalitis |
ORPHA:292 |
Whipple Disease |
|
Myocarditis, Polydipsia, Anorexia, Myositis, Arthritis, Depression, Pericarditis, Infectious ence... |
ORPHA:3452 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Thyroiditis, Skin rash, Pustule, Infectious encephalitis, Erythroderma, Interstitial... |
ORPHA:139402 |
Cerebral Visual Impairment |
|
Attention deficit hyperactivity disorder, Infectious encephalitis, Meningitis, Unusual CNS infection |
ORPHA:447788 |
Legionnaires Disease |
|
Myocarditis, Anorexia, Pancreatitis, Recurrent pharyngitis, Pericarditis, Endocarditis, Hepatitis... |
ORPHA:549 |
Typhoid |
|
Skin rash, Infectious encephalitis |
ORPHA:99745 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
CNS hypomyelination |
ORPHA:320401 |
Hereditary Methemoglobinemia |
|
Delayed myelination, Cerebral hypomyelination |
ORPHA:621 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
CNS hypomyelination |
OMIM:614883 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Irritability, Skin rash, CNS demyelination, Meningitis, Infectious encephalitis |
OMIM:603553 |
Lymphoproliferative Syndrome 2 |
|
EBV encephalitis, Persistent EBV viremia, Recurrent infections, Severe varicella zoster infection... |
OMIM:615122 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
CNS hypomyelination, Irritability, Severe demyelination of the white matter, Aggressive behavior |
ORPHA:481152 |
Glutamine Deficiency, Congenital |
|
CNS hypomyelination, Recurrent respiratory infections |
OMIM:610015 |
Spastic Paraplegia 44, Autosomal Recessive |
|
CNS hypomyelination |
OMIM:613206 |
Reynolds Syndrome |
|
Keratoconjunctivitis sicca, Arthritis, Skin rash, Dysphagia, Infectious encephalitis |
ORPHA:779 |
Acute Disseminated Encephalomyelitis |
|
Irritability, Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Optic n... |
ORPHA:83597 |
4H Leukodystrophy |
|
Dysphagia, Cerebral hypomyelination |
ORPHA:289494 |
Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Recu... |
OMIM:300755 |
Leukodystrophy, Hypomyelinating, 2 |
|
Demyelinating motor neuropathy, Leukodystrophy, Cerebral hypomyelination |
OMIM:608804 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Septic arthritis, CNS hypomyelination, Arthritis, Osteomyelitis |
OMIM:619423 |
Leukodystrophy, Hypomyelinating, 10 |
|
CNS hypomyelination, Leukodystrophy |
OMIM:616420 |
Giant Axonal Neuropathy |
|
CNS hypomyelination |
ORPHA:643 |
Leukodystrophy, Hypomyelinating, 6 |
|
Leukodystrophy, Cerebral hypomyelination |
OMIM:612438 |
Developmental And Epileptic Encephalopathy 93 |
|
CNS hypomyelination |
OMIM:618012 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Leukodystrophy |
OMIM:614561 |
Alg2-Cdg |
|
Cerebral hypomyelination |
ORPHA:79326 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
CNS hypomyelination, Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis |
OMIM:615966 |
Orofaciodigital Syndrome Xvii |
|
CNS hypomyelination |
OMIM:617926 |
Listeriosis |
|
Myocarditis, Unusual skin infection, Irritability, Pyelonephritis, Arteritis, Meningitis, Pericar... |
ORPHA:533 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
CNS hypomyelination, Leukodystrophy, Dysphagia |
OMIM:619576 |
Tremor, Hereditary Essential, 6 |
|
Leukodystrophy |
OMIM:618866 |
Avian Influenza |
|
Myelitis, Meningitis, Conjunctivitis, Pneumonia, Hepatitis, Infectious encephalitis |
ORPHA:454836 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Leukodystrophy |
OMIM:619196 |
Huppke-Brendel Syndrome |
|
CNS hypomyelination |
OMIM:614482 |
Nocardiosis |
|
Anorexia, Scleritis, Thyroiditis, Meningitis, Lymphadenitis, Severe infection, Pericarditis, Kera... |
ORPHA:31204 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Leukodystrophy |
OMIM:616859 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619286 |
Developmental And Epileptic Encephalopathy 75 |
|
CNS hypomyelination |
OMIM:618437 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior |
ORPHA:208441 |
Lissencephaly 8 |
|
Cerebral hypomyelination |
OMIM:617255 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Delayed myelination, Leukodystrophy |
OMIM:617613 |
American Trypanosomiasis |
|
Myocarditis, Skin rash, Infectious encephalitis |
ORPHA:3386 |
Microsporidiosis |
|
Sinusitis, Myocarditis, Anorexia, Cholangitis, Thyroiditis, Bronchiolitis, Nephritis, Pneumonia, ... |
ORPHA:2552 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Infectious encephalitis |
ORPHA:1194 |
Multiple Sclerosis, Susceptibility To |
|
CNS demyelination, Emotional lability, Depression |
OMIM:126200 |
Q Fever |
|
Myocarditis, Anorexia, Meningitis, Hepatitis, Pericarditis, Osteomyelitis, Infectious encephaliti... |
ORPHA:781 |
Microcephaly-Capillary Malformation Syndrome |
|
Delayed myelination, CNS hypomyelination |
OMIM:614261 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
CNS hypomyelination, Delayed CNS myelination |
OMIM:619260 |
New-Onset Refractory Status Epilepticus |
|
Infectious encephalitis |
ORPHA:363558 |
Juvenile Amyotrophic Lateral Sclerosis |
|
CNS hypomyelination, Amyotrophic lateral sclerosis, Dysphagia |
ORPHA:300605 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Meningitis |
OMIM:618847 |
Developmental And Epileptic Encephalopathy 4 |
|
Cerebral hypomyelination, Delayed CNS myelination |
OMIM:612164 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Irritability, Meningitis, Infectious encephalitis |
OMIM:267700 |
Gm1 Gangliosidosis |
|
Oral aversion, Aspiration pneumonia, Dysphagia, Recurrent respiratory infections, Infectious ence... |
ORPHA:354 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections |
OMIM:615561 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
CNS hypomyelination |
OMIM:618186 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Recurrent infections, CNS hypomyelination, Self-mutilation, Dysphagia |
OMIM:618922 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, Oti... |
OMIM:601457 |
Retinal Dystrophy With Leukodystrophy |
|
CNS hypomyelination |
OMIM:618863 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
CNS hypomyelination |
OMIM:618622 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic oral candidiasis, Deep dermatophytosis, Chronic tinea infection, Onychomycosis, Phaeohyph... |
OMIM:212050 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Erythroderma, Infectious encephalitis, Colitis |
ORPHA:540 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
CNS demyelination, Irritability, Leukodystrophy, Dysphagia |
OMIM:264470 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr... |
OMIM:613500 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebral hypomyelination, Pseudobulbar paralysis |
ORPHA:438114 |
Neurocutaneous Melanocytosis |
|
Infectious encephalitis |
ORPHA:2481 |
Aicardi-Goutieres Syndrome 6 |
|
Irritability, Leukodystrophy, Chilblains |
OMIM:615010 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
CNS hypomyelination |
OMIM:616239 |
Scedosporiosis |
|
Unusual skin infection, Invasive fungal infection, Sinusitis, Pericarditis, Severe infection, Art... |
ORPHA:449280 |
Behçet Disease |
|
Anorexia, Irritability, Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Ar... |
ORPHA:117 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Chronic otitis media, Cerebral hypomyelination |
OMIM:612949 |
Zygomycosis |
|
Myocarditis, Unusual skin infection, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumon... |
ORPHA:73263 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Delayed myelination, CNS hypomyelination |
OMIM:614922 |
Japanese Encephalitis |
|
Anorexia, Paucity of anterior horn motor neurons, Meningitis, Infectious encephalitis |
ORPHA:79139 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic oral candidiasis, Pneumocystis carinii pneumonia, Recurrent lower respiratory tract infec... |
OMIM:308230 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
CNS hypomyelination |
ORPHA:280229 |
Developmental And Epileptic Encephalopathy 29 |
|
CNS hypomyelination |
OMIM:616339 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Dysphagia, Bronchiectasis, CNS hypomyelination, Leukodystrophy |
OMIM:619708 |
Alexander Disease |
|
Depression, Emotional lability, Dysphagia, Self-injurious behavior, Infectious encephalitis |
ORPHA:58 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
CNS demyelination, Irritability |
OMIM:618237 |
Leukodystrophy, Hypomyelinating, 12 |
|
Delayed myelination, Cerebral hypomyelination |
OMIM:616683 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Depression, Recurrent urinary tract infections, Infectious encephalitis, Self-injurious behavior |
ORPHA:847 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Delayed myelination, CNS hypomyelination |
ORPHA:88618 |
Sandhoff Disease, Infantile Form |
|
CNS hypomyelination |
ORPHA:309155 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Dysphagia, Delayed CNS myelination, CNS hypomyelination, Cerebral hypomyelination |
OMIM:618367 |
Rift Valley Fever |
|
Anorexia, Skin rash, Severe viral infection, Hepatitis, Infectious encephalitis, Uveitis |
ORPHA:319251 |
Immunoglobulin A Vasculitis |
|
Anorexia, Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious encephalitis |
ORPHA:761 |
Brucellosis |
|
Myocarditis, Anorexia, Hip osteoarthritis, Arteritis, Depression, Knee osteoarthritis, Arthritis,... |
ORPHA:1304 |
Aicardi-Goutieres Syndrome 5 |
|
Irritability, Leukodystrophy, Chilblains |
OMIM:612952 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Thyroiditis, Recurrent infections, Chronic mucocutaneous candid... |
ORPHA:391487 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... |
ORPHA:3077 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
CNS hypomyelination |
OMIM:618527 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Delayed myelination, Irritability, Esophagitis, Cerebral hypomyelination |
ORPHA:79351 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy, Recurrent respiratory inf... |
ORPHA:447997 |
Combined Saposin Deficiency |
|
CNS demyelination |
OMIM:611721 |
Selective Igm Deficiency |
|
Crohn's disease, Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infec... |
ORPHA:331235 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Meningitis, Recurrent sinopulmonary infections, Conjunctivitis |
OMIM:616740 |
Incontinentia Pigmenti |
|
Skin rash, Keratitis, Attention deficit hyperactivity disorder, Infectious encephalitis, Uveitis |
ORPHA:464 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Irritability, Sinusitis, Pustule, Restlessness, Pneumonia, Infectious enc... |
ORPHA:68 |
Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination |
OMIM:618328 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Conjuncti... |
OMIM:240500 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Abnormal myelination, Cerebral hypomyelination |
ORPHA:280210 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
CNS hypomyelination |
OMIM:617193 |
Isolated Agammaglobulinemia |
|
Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis media, Re... |
ORPHA:229717 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Dysphagia, Peripheral demyelination |
OMIM:249900 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
CNS demyelination, Dysphagia, Depression |
OMIM:221820 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Abnormal temper tantrums, Recurrent hand flapping, Compulsive behaviors, Delayed myelin... |
ORPHA:3008 |
Chikungunya |
|
Depression, Arthritis, Skin rash, Synovitis, Enthesitis, Infectious encephalitis, Erythema nodosu... |
ORPHA:324625 |
Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... |
OMIM:610984 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Recurrent pneumonia, Dysphagia, Cerebral hypomyelination |
ORPHA:496641 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Motor stereotypy, Cerebral hypomyelination |
ORPHA:457351 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
CNS demyelination, Disinhibition |
OMIM:618193 |
Autosomal Agammaglobulinemia |
|
Chronic otitis media, Recurrent infections, Arthritis, Skin rash, Meningitis, Sinusitis, Conjunct... |
ORPHA:33110 |
Marbach-Rustad Progeroid Syndrome |
|
CNS hypomyelination |
OMIM:619322 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Meningitis, Severe infection |
ORPHA:464370 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Arteritis, Herpes si... |
OMIM:233600 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Self-injurious behavior, Agitation, Delayed CNS myelination |
OMIM:618339 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Recurrent lower respiratory tract infections, Depression, Emotional lability, Compuls... |
ORPHA:293987 |
Allan-Herndon-Dudley Syndrome |
|
Irritability, Leukodystrophy, Delayed CNS myelination |
OMIM:300523 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Abnormal CNS myelination |
OMIM:612951 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Leukodystrophy, Dysphagia |
OMIM:617916 |
Sandhoff Disease |
|
CNS hypomyelination |
OMIM:268800 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Sinusitis, Rhinitis, Recurrent upper and lower respiratory tract infections, O... |
ORPHA:70593 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinusitis, Meningitis |
OMIM:619707 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Chronic oral candidiasis, Recurrent candida infections, Recurrent Staphyloc... |
ORPHA:83471 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Abnormal CNS myelination |
ORPHA:521390 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Cerebral hypomyelination |
ORPHA:280219 |
Cysticercosis |
|
Emotional lability, Infectious encephalitis, Iridocyclitis |
ORPHA:1560 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Irritability, Leukodystrophy |
OMIM:619224 |
Tularemia |
|
Pneumonia, Inflammatory abnormality of the eye, Skin rash, Otitis media, Conjunctivitis, Erythema... |
ORPHA:3392 |
Gaba-Transaminase Deficiency |
|
Leukodystrophy |
OMIM:613163 |
Chromosome 8Q21.11 Deletion Syndrome |
|
CNS hypomyelination |
OMIM:614230 |
Severe Combined Immunodeficiency, X-Linked |
|
Chronic oral candidiasis, Pneumonia, Skin rash, Recurrent pneumonia, Recurrent bacterial meningit... |
OMIM:300400 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Abnormal CNS myelination |
OMIM:611555 |
Fucosidosis |
|
CNS hypomyelination, Recurrent respiratory infections |
OMIM:230000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
CNS hypomyelination, Esophagitis |
OMIM:615356 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Cerebral hypomyelination |
ORPHA:247262 |
Spinocerebellar Ataxia 23 |
|
CNS demyelination |
OMIM:610245 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Leukodystrophy, Delayed CNS myelination |
OMIM:618688 |
Leukodystrophy, Hypomyelinating, 17 |
|
Leukodystrophy |
OMIM:618006 |
Dpagt1-Cdg |
|
Emotional blunting, Head-banging, Stereotypical body rocking, CNS hypomyelination, Aggressive beh... |
ORPHA:86309 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Leukodystrophy |
OMIM:618242 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Abnormal CNS myelination |
ORPHA:477673 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619306 |
Immunodeficiency 23 |
|
Abnormal CNS myelination, Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Chr... |
OMIM:615816 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Irritability, Leukodystrophy, Dysphagia |
OMIM:618226 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:614501 |
Dermatoleukodystrophy |
|
Leukodystrophy |
OMIM:221790 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Irritability, Leukodystrophy |
ORPHA:401866 |
Late-Infantile/Juvenile Krabbe Disease |
|
Irritability, Abnormal CNS myelination, Emotional lability, Neuromuscular dysphagia, Attention de... |
ORPHA:206443 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Stereotypical hand wringing, Dysphagia, CNS hypomyelination, ... |
ORPHA:268261 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Depression, Symmetric peripheral demyelination, Leukodystrophy, Pseudobulbar paralysis |
OMIM:169500 |
Leukodystrophy, Hypomyelinating, 16 |
|
Leukodystrophy, Delayed CNS myelination |
OMIM:617964 |
Marchiafava-Bignami Disease |
|
Abnormal emotion, Depression, CNS demyelination, Addictive alcohol use, Aggressive behavior |
ORPHA:221074 |
Trigeminal Neuralgia |
|
CNS demyelination, Depression, Peripheral demyelination |
ORPHA:221091 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Irritability, Leukodystrophy |
OMIM:615330 |
X-Linked Agammaglobulinemia |
|
Chronic otitis media, Arthritis, Skin rash, Meningitis, Sinusitis, Recurrent pneumonia, Conjuncti... |
ORPHA:47 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy |
OMIM:614932 |
Frontal Encephalocele |
|
Leukodystrophy |
ORPHA:1931 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Leukodystrophy, Delayed CNS myelination |
OMIM:620269 |
Fusariosis |
|
Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Invasive fungal infection, Onychomyco... |
ORPHA:228119 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Leukodystrophy, Delayed CNS myelination |
OMIM:616881 |
Immunodeficiency 68 |
|
Septic arthritis, Recurrent skin infections, Recurrent meningitis, Lymphadenitis |
OMIM:612260 |
Follicular Lymphoma |
|
Meningitis |
ORPHA:545 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Leukodystrophy |
OMIM:618225 |
Leukodystrophy, Hypomyelinating, 3 |
|
Sudanophilic leukodystrophy, Leukodystrophy |
OMIM:260600 |
Cinca Syndrome |
|
Arthritis, Skin rash, Meningitis, Uveitis |
OMIM:607115 |
Leigh Syndrome |
|
CNS demyelination, Emotional lability |
OMIM:256000 |
Hengel-Maroofian-Schols Syndrome |
|
Abnormal CNS myelination |
OMIM:619641 |
Peroxisome Biogenesis Disorder 8B |
|
Dysphagia, Leukodystrophy, Peripheral demyelination |
OMIM:614877 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Leukodystrophy, Delayed CNS myelination |
OMIM:616034 |
Rat-Bite Fever |
|
Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Meningitis, Lympha... |
ORPHA:31205 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Recurrent otitis media, Stereotypical body rocking, Repetitive compulsive behavior, Motor stereot... |
ORPHA:513456 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent f... |
ORPHA:169090 |
Waardenburg Syndrome, Type 2E |
|
Cerebral hypomyelination |
OMIM:611584 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed myelination, Recurrent pneumonia, CNS demyelination |
OMIM:214150 |
Leukodystrophy, Hypomyelinating, 24 |
|
Leukodystrophy |
OMIM:619851 |
Abetalipoproteinemia |
|
CNS demyelination, Peripheral demyelination |
OMIM:200100 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Meningitis |
OMIM:616050 |
Hypocomplementemic Urticarial Vasculitis |
|
Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleritis, Conjunctivitis, Meningit... |
ORPHA:36412 |
Aicardi-Goutieres Syndrome 4 |
|
Leukodystrophy |
OMIM:610333 |
Schilder Disease |
|
CNS demyelination |
ORPHA:59298 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
CNS demyelination, Delayed CNS myelination |
OMIM:619653 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Agitation, Abnormal fear-induced behavior, Restlessness |
ORPHA:100924 |
Leukodystrophy, Hypomyelinating, 9 |
|
Leukodystrophy, Pseudobulbar paralysis |
OMIM:616140 |
Krabbe Disease |
|
CNS demyelination, Peripheral demyelination |
OMIM:245200 |
Leukodystrophy, Hypomyelinating, 4 |
|
Leukodystrophy |
OMIM:612233 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent otitis media, Recurrent urinary tract infections, Synovitis, Recurrent skin infections,... |
ORPHA:3455 |
Immunodeficiency 67 |
|
Septic arthritis, Recurrent staphylococcal infections, Meningitis, Recurrent streptococcal infect... |
OMIM:607676 |
Sjogren-Larsson Syndrome |
|
CNS demyelination |
OMIM:270200 |
Angiostrongyliasis |
|
Irritability, Meningitis, Unusual CNS infection |
ORPHA:74 |
Waardenburg Syndrome, Type 4A |
|
Leukodystrophy |
OMIM:277580 |
Rere-Related Neurodevelopmental Syndrome |
|
CNS demyelination, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:494344 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Recurrent respiratory infections, Recurrent infections, Thyroiditis, Myositis, Meningi... |
ORPHA:37042 |
Progressive Multifocal Leukoencephalopathy |
|
CNS demyelination, Meningitis |
ORPHA:217260 |
Pyruvate Carboxylase Deficiency |
|
Leukodystrophy |
OMIM:266150 |
Secondary Syringomyelia |
|
CNS demyelination, Fatigable weakness, Pseudobulbar paralysis |
ORPHA:99857 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Leukodystrophy, Aspiration pneumonia |
ORPHA:431361 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent abscess formation, Recurrent respiratory infections, Recurrent ear infections, Chronic ... |
ORPHA:79124 |
Chronic Granulomatous Disease |
|
Inflammatory abnormality of the eye, Eczematoid dermatitis, Sinusitis, Otitis media, Recurrent re... |
ORPHA:379 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Abnormal CNS myelination |
OMIM:619053 |
Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior |
ORPHA:309246 |
Cinca Syndrome |
|
Retrobulbar optic neuritis, Uveitis, Meningitis, Inflammatory abnormality of the eye |
ORPHA:1451 |
Tick-Borne Encephalitis |
|
Anorexia, Fatigable weakness of respiratory muscles, Myelitis, Depression, Dysphagia, Unusual CNS... |
ORPHA:297 |
Gorham-Stout Disease |
|
Meningitis, Osteomyelitis |
ORPHA:73 |
Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
Mixed Connective Tissue Disease |
|
Myocarditis, Gastritis, Myositis, Arthritis, Skin rash, Pericarditis, Meningitis, Keratoconjuncti... |
ORPHA:809 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent otitis media, Head-banging, Frequent temper tantrums, Motor stereotypy, Attention defic... |
OMIM:619575 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Leukodystrophy |
OMIM:619051 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Leukodystrophy, Cholecystitis |
ORPHA:309256 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Recurrent infections, Leukodystrophy, Dysphagia, Delayed CNS myelination |
OMIM:615471 |
Giant Cell Arteritis |
|
Anorexia, Recurrent pharyngitis, Depression, Arthritis, Pericarditis, Meningitis |
ORPHA:397 |
Isolated Sedoheptulokinase Deficiency |
|
Abnormal CNS myelination, Hepatitis |
ORPHA:440713 |
Orofaciodigital Syndrome Xiv |
|
CNS hypomyelination |
OMIM:615948 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Leukodystrophy, Cholecystitis |
ORPHA:309263 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
CNS demyelination, Attention deficit hyperactivity disorder |
OMIM:620646 |
Aicardi-Goutieres Syndrome 1 |
|
CNS demyelination, Self-mutilation, Chilblains |
OMIM:225750 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Leukodystrophy |
OMIM:610678 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
CNS hypomyelination, Recurrent respiratory infections, Recurrent lower respiratory tract infections |
OMIM:619534 |
Whim Syndrome |
|
Severe periodontitis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Recurrent pneumonia, O... |
ORPHA:51636 |
Coccidioidomycosis |
|
Morbilliform rash, Coccidioidal meningitis, Pneumonia, Pancreatitis, Panniculitis, Arthritis, Ski... |
ORPHA:228123 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Leukodystrophy |
OMIM:614299 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Leukodystrophy |
OMIM:617762 |
Canavan Disease |
|
CNS demyelination |
OMIM:271900 |
Metachromatic Leukodystrophy, Adult Form |
|
Depression, Emotional lability, Leukodystrophy, Cholecystitis |
ORPHA:309271 |
X-Linked Cerebral Adrenoleukodystrophy |
|
CNS demyelination, Hyperactivity, Dysphagia, Diffuse demyelination of the cerebral white matter |
ORPHA:139396 |
Adult Krabbe Disease |
|
CNS demyelination, Peripheral demyelination |
ORPHA:206448 |
Niemann-Pick Disease Type C |
|
Abnormal CNS myelination, Depression, Demyelinating peripheral neuropathy, Low frustration tolera... |
ORPHA:646 |
Congenital Syphilis |
|
Myocarditis, Pancreatitis, Synovitis, Rhinitis, Keratitis, Pneumonia, Meningitis, Maculopapular e... |
ORPHA:499009 |
Hurler Syndrome |
|
Recurrent respiratory infections, Recurrent otitis media, Abnormal CNS myelination |
OMIM:607014 |
Familial Mediterranean Fever |
|
Pancreatitis, Depression, Arthritis, Skin rash, Pericarditis, Erysipelas, Osteoarthritis, Periton... |
ORPHA:342 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperactivity, Impulsivity, Bruxism, Leukodystrophy, Aggressive behavior, Irritability, Agitation... |
OMIM:619475 |
Alg8-Cdg |
|
Leukodystrophy |
ORPHA:79325 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Recurrent infections, Skin rash, Inflammation of the large intestine, Blepharitis, Recurrent pneu... |
OMIM:617718 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent upper respiratory... |
OMIM:600802 |
Trichinellosis |
|
Irritability, Skin rash, Dysphagia, Conjunctivitis, Meningitis |
ORPHA:863 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Leukodystrophy |
ORPHA:444013 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Leukodystrophy |
OMIM:614462 |
Sepsis In Premature Infants |
|
Invasive fungal infection, Enterocolitis, Disseminated viral infection, Meningitis, Severe infection |
ORPHA:90051 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Meningitis |
ORPHA:91351 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
CNS demyelination |
OMIM:614886 |
Leukocyte Adhesion Deficiency |
|
Perianal abscess, Severe periodontitis, Sinusitis, Chronic oral candidiasis, Recurrent aphthous s... |
ORPHA:2968 |
Multiple Sulfatase Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:272200 |
Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Abnormal fear-induced behavior |
OMIM:219090 |
Peroxisome Biogenesis Disorder 6B |
|
Leukodystrophy |
OMIM:614871 |
Familial Mediterranean Fever |
|
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis, Meningitis |
OMIM:249100 |
Primary Sjögren Syndrome |
|
Arteritis, Chronic active hepatitis, Myositis, Optic neuritis, Thyroiditis, Arthritis, Parotitis,... |
ORPHA:289390 |
Kawasaki Disease |
|
Myocarditis, Irritability, Cheilitis, Recurrent pharyngitis, Arthritis, Skin rash, Meningitis, Pe... |
ORPHA:2331 |
Leigh Syndrome |
|
Severe viral infection, Leukodystrophy, Dysphagia, Eczematoid dermatitis |
ORPHA:506 |
Acute Transverse Myelitis |
|
Invasive parasitic infection, CNS demyelination, Severe viral infection, Meningitis, Extrapulmona... |
ORPHA:139417 |
Plague |
|
Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis, ... |
ORPHA:707 |
Xeroderma Pigmentosum, Complementation Group B |
|
Abnormal CNS myelination |
OMIM:610651 |
Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Arthritis, Eczematoid dermatitis, Sinusitis, Inflammation of the large inte... |
ORPHA:906 |
Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Sclerosing cholangitis, Arteritis, Thyroiditis, Meningitis, Lymphadeni... |
ORPHA:449395 |
Granulomatosis With Polyangiitis |
|
Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Skin rash, ... |
ORPHA:900 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Pancreatitis, Abnormal CNS myelination, Abnormal myelination |
OMIM:620371 |
Glycogen Storage Disease Ii |
|
Recurrent respiratory infections, Abnormal CNS myelination |
OMIM:232300 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Leukodystrophy |
ORPHA:370997 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pancreatitis, Acute colitis, Severe viral infection, Septic arthritis, Pneumonia, Me... |
ORPHA:544482 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear-induced behavior, Emotional lability, Recurrent urinary tract infections, Hyperacti... |
ORPHA:353281 |
Rabson-Mendenhall Syndrome |
|
CNS demyelination, Polydipsia, Recurrent infections |
ORPHA:769 |
Aicardi-Goutières Syndrome |
|
Irritability, Panniculitis, Myositis, Demyelinating peripheral neuropathy, Arthritis, Chilblains,... |
ORPHA:51 |
Cryptococcosis |
|
Prostatitis, Peritonitis, Pneumonia, Meningitis, Osteomyelitis |
ORPHA:1546 |
Wiskott-Aldrich Syndrome |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent meningitis, Eczem... |
OMIM:301000 |
Cerebrotendinous Xanthomatosis |
|
Agitation, Depression, CNS demyelination, Hypermyelinated retinal nerve fibers, Attention deficit... |
ORPHA:909 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Leukodystrophy |
OMIM:616538 |
Bickerstaff Brainstem Encephalitis |
|
CNS demyelination, Severe infection, Acute demyelinating polyneuropathy, Pneumonia, Recurrent gas... |
ORPHA:79138 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
CNS demyelination |
OMIM:620451 |
De Sanctis-Cacchione Syndrome |
|
Keratitis, Leukodystrophy, Conjunctivitis |
OMIM:278800 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear-induced behavior, Emotional lability, Recurrent urinary tract infections, Hyperacti... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear-induced behavior, Emotional lability, Recurrent urinary tract infections, Hyperacti... |
ORPHA:353277 |
Peroxisome Biogenesis Disorder 1B |
|
Leukodystrophy |
OMIM:601539 |
Isolated Complex I Deficiency |
|
Leukodystrophy |
ORPHA:2609 |
Leptospirosis |
|
Anorexia, Optic neuritis, Skin rash, Meningitis, Pericarditis, Hepatitis, Uveitis |
ORPHA:509 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Anorexia, Malar rash, Skin rash, Pustule, Meningitis |
ORPHA:50918 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Leukodystrophy |
OMIM:612199 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
CNS demyelination |
OMIM:620024 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Leukodystrophy |
OMIM:252010 |
Hydranencephaly |
|
Meningitis |
ORPHA:2177 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
CNS demyelination, Dysphagia, Peripheral demyelination |
OMIM:220111 |
Sacral Defect With Anterior Meningocele |
|
Meningitis |
OMIM:600145 |