Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology, Dysmetria, Gait ataxia, Seizu... |
ORPHA:217260 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Seizure, Hyperlysinuria, Cognitive impairment |
OMIM:238700 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Ataxia, Reduction of oligodendroglia, Inability to w... |
OMIM:312080 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... |
OMIM:617113 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue, Seizure, Gait disturbance, Anorexia |
ORPHA:79283 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Hartnup Disorder |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Neutral hypera... |
OMIM:234500 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Infertility |
OMIM:300719 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Gliosis, Abnormal rep... |
OMIM:172700 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... |
ORPHA:2382 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Aggressive behavior, Frontal lobe dementia, Seizure, Dementia, Inappropriat... |
OMIM:221770 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Frontotemporal dementia, Astrocytosis, I... |
OMIM:600795 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Fatigue, Gait disturbance, Myoclonus, Cognitive impairment |
ORPHA:314632 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Mental deterioration, Seizure, Gliosis, Confusion |
OMIM:613002 |
Hyperprolinemia Type 2 |
|
Early onset absence seizures, Short attention span, Exercise intolerance, Generalized-onset seizu... |
ORPHA:79101 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Macrophagic Myofasciitis |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:592 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Frontal lobe dementia, Seizure, Gait disturbance, Shuffling gait, Gliosis, Dysphagia, Mental dete... |
OMIM:221820 |
Huntington Disease |
|
Seizure, Dementia, Gliosis, Gait ataxia |
OMIM:143100 |
Mantle Cell Lymphoma |
|
Fatigue, Anorexia |
ORPHA:52416 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Confusion, Urinary incontinence, Aggressive behavior, Dysmetria, Gait a... |
OMIM:607136 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Athetosis, Gliosis, Dysphagia |
OMIM:300857 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:301008 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Mal De Débarquement |
|
Fatigue, Unsteady gait, Confusion, Gait imbalance |
ORPHA:210272 |
Methylmalonic Acidemia With Homocystinuria |
|
Fatigue, Seizure, Gait disturbance |
ORPHA:26 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Pontiac Fever |
|
Fatigue, Myalgia |
ORPHA:99748 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Fatigue, Exercise intolerance, Ataxia, Chest pain, Gait disturbance, Myalgia, Mental deterioratio... |
ORPHA:1349 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Waddling gait, Fatigue, Broad-based gait, Knee pain, Foot pain |
OMIM:600204 |
Cholangiocarcinoma |
|
Fatigue, Anorexia, Abdominal pain |
ORPHA:70567 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Fatigue, Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness seizure |
OMIM:251950 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Aggressive behavior, Gait ataxia, Gait disturbance, Gait imbalance, Gliosis, Dysp... |
OMIM:618369 |
Glioblastoma |
|
Glioblastoma multiforme, Memory impairment, Fatigue, Seizure |
ORPHA:360 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue, Seizure, Agitation, Progressive neurologic deterioration |
ORPHA:276608 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Fatigue, Impulsivity, Seizure, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:589905 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Fatigue, Falls |
OMIM:616326 |
New-Onset Refractory Status Epilepticus |
|
Fatigue, Seizure precipitated by febrile infection, Confusion, Bilateral tonic-clonic seizure wit... |
ORPHA:363558 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Fatigue, Ataxia, Inability to walk, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis |
OMIM:614831 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Confusion, Astrocytosis, Dementia, Gliosis, Myoclonus, Cognitive impairment, Memory impai... |
ORPHA:204 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Undifferentiated Pleomorphic Sarcoma |
|
Fatigue, Anorexia |
ORPHA:2023 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Alexander Disease |
|
Fatigue, Ataxia, Dysmetria, Seizure, Palatal tremor |
OMIM:203450 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Seizure, Dementia, Gliosis, Myoclonus |
OMIM:604218 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Exercise intolerance, Generalized-onset seizure, Chronic fatigue, Dysphagia, Myalgia, Difficulty ... |
ORPHA:254875 |
Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
Tuberculosis |
|
Fatigue |
ORPHA:3389 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Fatigue, Ataxia, Confusion, Seizure, Agitation, Cognitive impairment, Abnormal repetitive manneri... |
ORPHA:927 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue, Seizure |
ORPHA:79299 |
Mucolipidosis Type Iii |
|
Fatigue, Cognitive impairment |
ORPHA:577 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue |
OMIM:619477 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Memory impairment, Cataract, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:620312 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Hemimegalencephaly |
|
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Seizure, Gliosis, Myoclonus, Status ep... |
ORPHA:99802 |
Hyperinsulinism Due To Insr Deficiency |
|
Fatigue, Seizure |
ORPHA:263458 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Adiposis Dolorosa |
|
Fatigue, Arthralgia, Chronic pain |
OMIM:103200 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue, Seizure, Spastic gait, Difficulty walking |
ORPHA:171612 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Seizure, Gait disturbance, Gliosis, Memory impairment |
OMIM:603896 |
Babesiosis |
|
Fatigue, Confusion, Anorexia, Arthralgia, Myalgia |
ORPHA:108 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Memory impairment, Dementia, Gliosis, Aggressive behavior |
OMIM:606688 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Seizure, Dementia, Gait disturbance, Myalgia, Dysphagia |
OMIM:609286 |
Hypotonia-Cystinuria Syndrome |
|
Fatigue, Polyphagia, Cystinuria |
ORPHA:163690 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l... |
OMIM:607485 |
Nipah Virus Disease |
|
Fatigue, Anorexia, Seizure, Myalgia, Myoclonus |
ORPHA:99825 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Chronic fatigue, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Bone pain, Seiz... |
OMIM:610539 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Kufor-Rakeb Syndrome |
|
Fatigue, Ataxia, Akinesia, Aggressive behavior, Seizure, Dementia, Gait disturbance, Myoclonus, D... |
OMIM:606693 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Atypical Juvenile Parkinsonism |
|
Fatigue, Akinesia, Inability to walk, Gait ataxia, Seizure, Shuffling gait, Myoclonus, Short step... |
ORPHA:391411 |
Spontaneous Periodic Hypothermia |
|
Fatigue, Seizure, Ataxia, Gait disturbance |
ORPHA:29822 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, D... |
OMIM:105550 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Frontotemporal dementia, Progressive cerebellar ataxia, G... |
ORPHA:275872 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue |
OMIM:618573 |
Developmental And Epileptic Encephalopathy 14 |
|
Focal autonomic seizure, Focal motor seizure, Gliosis, Status epilepticus, Generalized tonic seizure |
OMIM:614959 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Fatigue, Ataxia, Dysdiadochokinesis, Gait disturbance, Shuffling gait, Cognitive impairment |
ORPHA:352649 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Loss of ambulation, Fatigue |
OMIM:253601 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Fatigue, Ataxia, Seizure, Dementia, Gait disturbance, Myalgia, Cognitive impairment, Dysphagia |
ORPHA:98673 |
Laryngeal Neuroendocrine Tumor |
|
Chronic fatigue, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Pontocerebellar Hypoplasia, Type 4 |
|
Seizure, Gliosis, Myoclonus, Dysphagia |
OMIM:225753 |
L-2-Hydroxyglutaric Aciduria |
|
Seizure, Ataxia, Gliosis |
OMIM:236792 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Fatigue, Dysdiadochokinesis, Ataxia, Shuffling gait |
OMIM:618049 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue, Anorexia |
ORPHA:86893 |
Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Gait ataxia, Seizure, Dementia, Gait disturbance, Gliosis, Cognitive imp... |
ORPHA:157941 |
Progressive Supranuclear Palsy |
|
Impulsivity, Unsteady gait, Dementia, Falls, Gliosis, Cognitive impairment, Dysphagia, Memory imp... |
ORPHA:683 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Fatigue, Attention deficit hyperactivity disorder |
OMIM:274300 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Abdominal pain |
OMIM:616794 |
Sengers Syndrome |
|
Mental deterioration, Fatigue, Exercise intolerance, Sudden cardiac death |
OMIM:212350 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis |
OMIM:213200 |
Becker Muscular Dystrophy |
|
Exercise intolerance, Fatigue, Tip-toe gait, Falls, Myalgia, Difficulty walking |
ORPHA:98895 |
Developmental And Epileptic Encephalopathy 71 |
|
Seizure, Gliosis |
OMIM:618328 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Infertility |
OMIM:240950 |
Parkinson Disease 1, Autosomal Dominant |
|
Dementia, Gait disturbance, Shuffling gait, Gliosis, Dysphagia, Mental deterioration, Loss of amb... |
OMIM:168601 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Acquired Methemoglobinemia |
|
Fatigue, Seizure, Confusion, Abdominal pain |
ORPHA:464453 |
Familial Cold Urticaria |
|
Fatigue, Abdominal pain, Arthralgia, Myalgia, Polydipsia |
ORPHA:47045 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Loss of ambulation, Fatigue, Shuffling gait |
ORPHA:209335 |
Insulinoma |
|
Fatigue, Seizure, Transient global amnesia, Polyphagia |
ORPHA:97279 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Fatigue, Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors, Dysphagia, ... |
OMIM:617061 |
Familial Atrial Fibrillation |
|
Exercise intolerance, Fatigue, Chest pain |
ORPHA:334 |
Takayasu Arteritis |
|
Fatigue, Anorexia, Seizure, Chest pain, Arthralgia, Myalgia, Gangrene |
ORPHA:3287 |
Herpes Simplex Virus Encephalitis |
|
Fatigue, Seizure, Addictive alcohol use, Focal impaired awareness seizure, Focal aware seizure, S... |
ORPHA:1930 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Inhalational Anthrax |
|
Fatigue, Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal... |
ORPHA:247257 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Bowel incontinence, Progressive neurologic deterioration, Pseudobulbar paralysis, Gliosis |
OMIM:169500 |
Parkinson Disease 20, Early-Onset |
|
Fatigue, Gait disturbance, Shuffling gait, Dysphagia, Mental deterioration, Short stepped shuffli... |
OMIM:615530 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment |
ORPHA:276183 |
Pituicytoma |
|
Fatigue, Memory impairment |
ORPHA:251623 |
Adiposis Dolorosa |
|
Fatigue, Memory impairment, Seizure, Arthralgia |
ORPHA:36397 |
Postpoliomyelitis Syndrome |
|
Fatigue, Arthralgia, Myalgia, Dysphagia, Pain |
ORPHA:2942 |
Classic Hodgkin Lymphoma |
|
Fatigue, Ataxia, Anorexia, Bone pain, Chest pain |
ORPHA:391 |
Lynch Syndrome |
|
Fatigue, Glioblastoma multiforme, Abdominal pain, Seizure, Gait disturbance, Attention deficit hy... |
ORPHA:144 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Fatigue, Ataxia, Gait ataxia, Dysphagia |
OMIM:613077 |
Lyme Disease |
|
Fatigue, Memory impairment, Arthralgia, Myalgia |
ORPHA:91546 |
Lead Poisoning |
|
Fatigue, Anorexia, Abdominal pain, Seizure, Abdominal cramps, Attention deficit hyperactivity dis... |
ORPHA:330015 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fatigue, Seizure, Agitation, Progressive neurologic deterioration |
ORPHA:263455 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Houge-Janssens Syndrome 1 |
|
Fatigue, Seizure, Multifocal seizures, Gait ataxia |
OMIM:616355 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Ataxia, Bilateral tonic-clonic seizure, Exercise-induced myalgia, Febrile seizure (withi... |
ORPHA:42 |
Familial Colorectal Cancer Type X |
|
Fatigue, Glioblastoma multiforme, Abdominal pain, Seizure, Gait disturbance, Attention deficit hy... |
ORPHA:440437 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Gait disturbance, Gliosis |
OMIM:604484 |
Myofibrillar Myopathy 11 |
|
Fatigue, Dysphagia |
OMIM:619178 |
Typhoid |
|
Fatigue, Ataxia, Abdominal pain, Arthralgia, Myalgia |
ORPHA:99745 |
Poliomyelitis |
|
Fatigue, Exercise intolerance, Confusion, Anorexia, Inability to walk, Arthralgia, Agitation, Mya... |
ORPHA:2912 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Amyotrophic Lateral Sclerosis |
|
Fatigue, Amyotrophic lateral sclerosis, Motor neuron atrophy, Agitation, Pain |
ORPHA:803 |
Cronkhite-Canada Syndrome |
|
Fatigue, Seizure, Anorexia, Abdominal pain |
ORPHA:2930 |
Classic Galactosemia |
|
Male infertility, Cataract, Premature ovarian insufficiency, Decreased fertility in females, Cryp... |
ORPHA:79239 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Schnitzler Syndrome |
|
Fatigue, Arthralgia, Bone pain, Myalgia |
ORPHA:37748 |
Machado-Joseph Disease |
|
Ataxia, Truncal ataxia, Limb ataxia, Chronic pain, Progressive cerebellar ataxia, Dementia, Glios... |
OMIM:109150 |
Thyroid Hemiagenesis |
|
Fatigue |
ORPHA:95719 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Gliosis, Gait disturbance, Abnormal repetitive mannerism... |
ORPHA:457240 |
Cystinosis |
|
Fatigue, Aminoaciduria, Gait disturbance, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Fatigue, Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, Gait disturbance, Myalgia, Truncal ataxia |
OMIM:619259 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Ataxia, Seizure, Status epilepticus, Myoclonus, Dysphagia, Loss of ambulation |
OMIM:607426 |
Athyreosis |
|
Fatigue |
ORPHA:95713 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia |
ORPHA:3000 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fatigue, Elevated circulating creatinine concentration, Confusion, Myalgia |
ORPHA:542323 |
Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Anorexia, Abdominal pain |
ORPHA:65682 |
Pfapa Syndrome |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:42642 |
X-Linked Sideroblastic Anemia |
|
Fatigue |
ORPHA:75563 |
Immunodeficiency, Common Variable, 11 |
|
Fatigue |
OMIM:615767 |
Myotonia Fluctuans |
|
Fatigue, Gait disturbance, Myalgia, Choking episodes |
ORPHA:99734 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Follicular Lymphoma |
|
Fatigue, Night sweats |
ORPHA:545 |
Leishmaniasis |
|
Fatigue, Night sweats, Arthralgia, Anorexia |
ORPHA:507 |
Japanese Encephalitis |
|
Fatigue, Rigors, Bilateral tonic-clonic seizure, Anorexia, Abdominal pain, Paucity of anterior ho... |
ORPHA:79139 |
Cryptogenic Organizing Pneumonia |
|
Fatigue, Anorexia, Night sweats, Arthralgia, Chest pain |
ORPHA:1302 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Fatigue, Exercise intolerance, Exercise-induced myalgia, Dysphagia, Postexertional symptom exacer... |
ORPHA:368 |
Kufor-Rakeb Syndrome |
|
Fatigue, Short attention span, Confusion, Urinary incontinence, Bowel incontinence, Dementia, Gai... |
ORPHA:306674 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Seizure, Gliosis |
ORPHA:357225 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Chronic fatigue |
OMIM:234810 |
Hemochromatosis, Type 4 |
|
Fatigue, Arthralgia |
OMIM:606069 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Fatigue, Ataxia |
ORPHA:1215 |
Whipple Disease |
|
Fatigue, Ataxia, Anorexia, Abdominal pain, Seizure, Arthralgia, Chest pain, Myoclonus, Myalgia, P... |
ORPHA:3452 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Fatigue, Chills, Arthralgia, Myalgia |
OMIM:120100 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Dementia, Agitation, Shuffling gait, Gliosis, Dysphagia, Mental deterioration |
ORPHA:411602 |
Unclassified Myelodysplastic Syndrome |
|
Fatigue, Night sweats |
ORPHA:98827 |
Tick-Borne Encephalitis |
|
Back pain, Fatigue, Generalized-onset seizure, Anorexia, Focal-onset seizure, Limb pain, Diminish... |
ORPHA:297 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Fatigue |
OMIM:618549 |
Intellectual Disability And Myopathy Syndrome |
|
Fatigue |
OMIM:619719 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Fatigue, Restlessness, Ataxia, Myoclonic seizure, Seizure |
OMIM:617186 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Fatigue, Seizure, Sudden cardiac death |
ORPHA:156 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Rheumatic Fever |
|
Fatigue, Anorexia, Abdominal pain, Arthralgia, Gait disturbance, Chest pain |
ORPHA:3099 |
Relapsing Fever |
|
Fatigue, Abdominal pain, Elevated circulating creatinine concentration, Arthralgia, Myalgia, Chills |
ORPHA:91547 |
Aggressive Systemic Mastocytosis |
|
Fatigue, Anorexia, Abdominal pain, Bone pain, Arthralgia, Abdominal cramps, Constitutional symptom |
ORPHA:98850 |
Adrenomyeloneuropathy |
|
Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Impaired continence, Cognitive impa... |
ORPHA:139399 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Liddle Syndrome |
|
Fatigue |
ORPHA:526 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Seizure, Unsteady gait, Ataxia, Gliosis |
OMIM:256600 |
Hemochromatosis, Type 3 |
|
Fatigue |
OMIM:604250 |
Analbuminemia |
|
Fatigue |
OMIM:616000 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:230839 |
Spinal Arteriovenous Metameric Syndrome |
|
Fatigue, Gangrene, Arthralgia, Bone pain |
ORPHA:53721 |
Autoinflammation With Infantile Enterocolitis |
|
Fatigue, Arthralgia, Myalgia |
OMIM:616050 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue |
OMIM:613157 |
Mast Cell Sarcoma |
|
Fatigue |
ORPHA:66661 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Polymyositis |
|
Fatigue, Anorexia, Abdominal pain, Arthralgia, Gait disturbance, Myalgia |
ORPHA:732 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Fatigue |
ORPHA:231401 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Fatigue, Lower limb pain, Impulsivity, Aggressive behavior |
OMIM:261990 |
Aregenerative Anemia |
|
Fatigue, Dementia, Cognitive impairment |
ORPHA:101096 |
Legionnaires Disease |
|
Fatigue, Ataxia, Anorexia, Abdominal pain, Arthralgia, Chest pain, Myalgia |
ORPHA:549 |
Isolated Agammaglobulinemia |
|
Fatigue |
ORPHA:229717 |
Eosinophilic Fasciitis |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:3165 |
Primary Myelofibrosis |
|
Fatigue, Flank pain, Constitutional symptom, Anorexia |
ORPHA:824 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Fatigue, R... |
OMIM:619475 |
Non-Functioning Paraganglioma |
|
Fatigue, Chest pain, Episodic abdominal pain |
ORPHA:94080 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Autoerythrocyte Sensitization Syndrome |
|
Fatigue, Self-injurious behavior, Arthralgia, Asthenia, Myalgia, Epigastric pain, Pain, Obsessive... |
ORPHA:324636 |
Congenital Heart Block |
|
Fatigue, Exercise intolerance |
ORPHA:60041 |
Gaucher Disease Type 3 |
|
Fatigue, Ataxia, Bone pain, Dementia, Gait disturbance, Generalized myoclonic seizure |
ORPHA:77261 |
Angiostrongyliasis |
|
Fatigue, Abdominal pain, Seizure, Arthralgia, Myalgia, Neck pain, Pain |
ORPHA:74 |
Acute Interstitial Pneumonia |
|
Fatigue, Elevated circulating creatinine concentration, Chest pain, Arthralgia, Myalgia |
ORPHA:79126 |
Pediatric Hepatocellular Carcinoma |
|
Fatigue, Epigastric pain, Abdominal pain |
ORPHA:33402 |
Genetic Hyperferritinemia Without Iron Overload |
|
Fatigue, Arthralgia |
ORPHA:254704 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Seizure, Gliosis, Dysphagia |
OMIM:277470 |
Primary Familial Polycythemia |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:90042 |
Iatrogenic Botulism |
|
Fatigue, Dysphagia |
ORPHA:254509 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Fatigue, Exercise intolerance, Ataxia, Gait ataxia, Seizure, Gait disturbance, Myalgia, Cognitive... |
ORPHA:254892 |
Acute Promyelocytic Leukemia |
|
Fatigue, Anorexia, Abdominal pain, Bone pain, Addictive alcohol use, Gangrene |
ORPHA:520 |
Waldenström Macroglobulinemia |
|
Fatigue, Memory impairment, Ataxia, Anorexia |
ORPHA:33226 |
Botulism |
|
Fatigue, Abdominal pain, Dysphagia |
ORPHA:1267 |
Thymic Carcinoma |
|
Fatigue, Chest pain |
ORPHA:99868 |
Osteopetrosis, Autosomal Dominant 3 |
|
Fatigue, Asthenia |
OMIM:618107 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Fatigue, Arthralgia, Abdominal pain |
OMIM:615399 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Fatigue, Chest pain |
ORPHA:422 |
Refractory Anemia |
|
Fatigue |
ORPHA:98826 |
Glycogen Storage Disease Ixa1 |
|
Fatigue |
OMIM:306000 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Exercise intolerance, Myalgia |
OMIM:615418 |
Cholestasis-Lymphedema Syndrome |
|
Fatigue, Bone pain, Abdominal pain |
ORPHA:1414 |
Cold Agglutinin Disease |
|
Back pain, Fatigue, Arthralgia |
ORPHA:56425 |
Septo-Optic Dysplasia Spectrum |
|
Fatigue, Seizure, Polydipsia |
ORPHA:3157 |
Liposarcoma |
|
Fatigue, Abdominal pain |
ORPHA:69078 |
Tay-Sachs Disease |
|
Short attention span, Inability to walk, Typical absence seizure, Dysmetria, Seizure, Gait distur... |
ORPHA:845 |
Giant Cell Arteritis |
|
Fatigue, Ataxia, Sudden cardiac death, Anorexia, Abdominal pain, Arthralgia, Myalgia, Gangrene |
ORPHA:397 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Seizure, Gliosis |
OMIM:608033 |
Muckle-Wells Syndrome |
|
Myalgia, Arthralgia, Chronic fatigue |
OMIM:191900 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Fatigue, Ataxia, Compulsive behaviors, Gait ataxia |
ORPHA:98808 |
Reynolds Syndrome |
|
Fatigue, Myalgia, Dysphagia |
ORPHA:779 |
Papa Syndrome |
|
Fatigue, Arthralgia |
ORPHA:69126 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Fatigue |
OMIM:620351 |
Simple Cryoglobulinemia |
|
Fatigue, Progressive neurologic deterioration, Abdominal pain, Seizure, Arthralgia |
ORPHA:91139 |
Acute Monoblastic/Monocytic Leukemia |
|
Fatigue, Anorexia |
ORPHA:514 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Behçet Disease |
|
Fatigue, Ataxia, Confusion, Anorexia, Abdominal pain, Seizure, Arthralgia, Gait disturbance, Myal... |
ORPHA:117 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonic seizure, Seizure, Aminoaciduria, Gliosis, Myoclonus, Basal ganglia gliosis |
OMIM:614946 |
Xeroderma Pigmentosum |
|
Fatigue, Ataxia, Seizure, Aminoaciduria, Arthralgia, Cognitive impairment |
ORPHA:910 |
Dubin-Johnson Syndrome |
|
Fatigue, Abdominal pain |
ORPHA:234 |
Gitelman Syndrome |
|
Fatigue, Salt craving, Ataxia, Abdominal pain, Seizure, Arthralgia, Polydipsia |
OMIM:263800 |
Fixed Drug Eruption |
|
Fatigue, Chills |
ORPHA:293812 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Fatigue |
ORPHA:98791 |
Arachnoiditis |
|
Fatigue, Arthralgia |
ORPHA:137817 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Gliosis, Difficulty walking |
ORPHA:280210 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fatigue, Abdominal pain, Arthralgia, Gait disturbance, Myalgia, Dysphagia |
ORPHA:183 |
Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Myalgia |
OMIM:123320 |
Familial Acute Necrotizing Encephalopathy |
|
Seizure, Gait disturbance, Gliosis |
ORPHA:88619 |
Barth Syndrome |
|
Fatigue, Exercise intolerance, Gait disturbance |
OMIM:302060 |
Evans Syndrome |
|
Fatigue |
ORPHA:1959 |
Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Falls, Gait imbalance, Gliosis, Dysphagia, Memory impairment, Frontolimbic dementia |
OMIM:609454 |
Congenital Isolated Acth Deficiency |
|
Fatigue, Hypoglycemic seizures |
ORPHA:199296 |
Kaposi Sarcoma |
|
Fatigue |
ORPHA:33276 |
Adult-Onset Still Disease |
|
Fatigue, Arthralgia, Myalgia, Abdominal pain |
ORPHA:829 |
Chronic Beryllium Disease |
|
Fatigue |
ORPHA:133 |
Atrial Standstill |
|
Fatigue, Postexertional symptom exacerbation |
ORPHA:1344 |
Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Astrocytosis, Falls, Gait imbalance, Gliosis, Dysphagia, Memory impairment, Frontolimbi... |
OMIM:601104 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise-induced myalgia, Exercise intolerance, Myalgia |
OMIM:618250 |
Cinca Syndrome |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:1451 |
Autosomal Agammaglobulinemia |
|
Fatigue |
ORPHA:33110 |
Satoyoshi Syndrome |
|
Fatigue |
OMIM:600705 |
Portal Hypertension, Noncirrhotic, 2 |
|
Fatigue |
OMIM:619463 |
Alveolar Echinococcosis |
|
Fatigue, Low back pain, Ataxia, Abdominal pain, Seizure, Chest pain, Asthenia, Epigastric pain |
ORPHA:284 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Fatigue, Arthralgia |
ORPHA:90036 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Fatigue, Attention deficit hyperactivity disorder |
ORPHA:90674 |
Immunodeficiency 70 |
|
Chronic fatigue |
OMIM:618969 |
Systemic Capillary Leak Syndrome |
|
Fatigue, Constitutional symptom, Myalgia, Abdominal pain |
ORPHA:188 |
Mixed Connective Tissue Disease |
|
Fatigue, Seizure, Chest pain, Arthralgia, Myalgia |
ORPHA:809 |
Pituitary Apoplexy |
|
Fatigue, Confusion, Trigeminal neuralgia |
ORPHA:95613 |
Corticosteroid-Binding Globulin Deficiency |
|
Fatigue, Asthenia |
OMIM:611489 |
Erythrocytosis, Familial, 1 |
|
Fatigue |
OMIM:133100 |
Postorgasmic Illness Syndrome |
|
Fatigue |
ORPHA:279947 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue |
ORPHA:3226 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fatigue, Ataxia, Anorexia, Seizure, Myoclonus |
ORPHA:20 |
X-Linked Agammaglobulinemia |
|
Fatigue |
ORPHA:47 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Fatigue |
OMIM:241150 |
Late-Onset Isolated Acth Deficiency |
|
Fatigue, Anorexia, Abdominal pain, Seizure, Arthralgia |
ORPHA:199299 |
Proximal Spinal Muscular Atrophy |
|
Fatigue, Inability to walk, Difficulty walking, Dysphagia |
ORPHA:70 |
Post-Traumatic Pituitary Deficiency |
|
Fatigue |
ORPHA:95619 |
Pulmonary Hypertension, Primary, 5 |
|
Fatigue |
OMIM:265400 |
Neuroleptic Malignant Syndrome |
|
Fatigue, Rigors, Urinary incontinence, Agitation, Dysphagia, Delirium |
ORPHA:94093 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fatigue, Low back pain, Anorexia, Abdominal pain, Flank pain, Elevated circulating creatinine con... |
ORPHA:49041 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Fatigue, Exercise intolerance, Bowel incontinence, Inability to walk, Chronic pain, Dysphagia, Di... |
ORPHA:365 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Fatigue, Confusion, Abdominal pain, Elevated circulating creatinine concentration, Agi... |
ORPHA:340 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue |
ORPHA:90037 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Fatigue, Bone pain |
ORPHA:89937 |
Gamma-Heavy Chain Disease |
|
Fatigue, Dysphagia |
ORPHA:100026 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Fatigue, Urinary incontinence, Inability to walk, Seizure, Tip-toe gait, Gait disturbance, Diffic... |
ORPHA:466768 |
Fabry Disease |
|
Fatigue, Anorexia, Abdominal pain, Seizure, Arthralgia, Myalgia, Cognitive impairment |
ORPHA:324 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Infantile spasms, Aggressive behavior, Gait ataxia, Seizure, Gliosis, Myoclonus |
OMIM:618321 |
Loeffler Endocarditis |
|
Fatigue, Chest pain |
ORPHA:75566 |
Rheumatoid Arthritis |
|
Fatigue, Arthralgia |
OMIM:180300 |
Avian Influenza |
|
Fatigue, Chest pain, Myalgia, Abdominal pain |
ORPHA:454836 |
Acute Radiation Syndrome |
|
Fatigue, Seizure |
ORPHA:454831 |
Shigellosis |
|
Fatigue, Anorexia, Abdominal pain, Asthenia, Abdominal cramps, Febrile seizure (within the age ra... |
ORPHA:810 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigue |
ORPHA:257 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Atrial Septal Defect, Sinus Venosus Type |
|
Fatigue, Exercise intolerance |
ORPHA:99105 |
Glucocorticoid Resistance, Generalized |
|
Fatigue |
OMIM:615962 |
Idiopathic Pulmonary Hemosiderosis |
|
Fatigue |
ORPHA:99931 |
Lymphangioleiomyomatosis |
|
Fatigue, Abdominal pain, Seizure, Chest pain, Cognitive impairment |
ORPHA:538 |
Cyclic Neutropenia |
|
Fatigue, Bone pain, Abdominal pain |
ORPHA:2686 |
Acute Adrenal Insufficiency |
|
Fatigue, Salt craving, Anorexia, Abdominal pain, Seizure, Arthralgia |
ORPHA:95409 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Fatigue, Seizure |
ORPHA:230851 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Fatigue, Arthralgia |
ORPHA:90033 |
Hennekam-Beemer Syndrome |
|
Fatigue, Seizure, Abdominal pain |
ORPHA:2135 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Chills |
ORPHA:86884 |
Exercise-Induced Malignant Hyperthermia |
|
Fatigue, Ataxia, Confusion, Seizure, Delirium |
ORPHA:466650 |
Malignant Atrophic Papulosis |
|
Fatigue, Seizure, Chest pain, Abdominal pain |
ORPHA:679 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Seizure, Falls, Gliosis, Difficulty walking |
OMIM:618222 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Bone pain |
ORPHA:324964 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:465508 |
Immunodeficiency 97 With Autoinflammation |
|
Fatigue, Abdominal pain |
OMIM:619802 |
Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Chest pain, Elevated circulating creatinine concentration |
ORPHA:230 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Astrocytosis, Dementia, Gliosis, Myoclonus, Status epilepti... |
OMIM:203700 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Fatigue, Exercise intolerance |
OMIM:617713 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Solitary Fibrous Tumor |
|
Fatigue, Low back pain, Night sweats |
ORPHA:2126 |
Peripartum Cardiomyopathy |
|
Fatigue, Chest pain, Abdominal pain |
ORPHA:563 |
Vexas Syndrome |
|
Fatigue, Night sweats, Arthralgia |
OMIM:301054 |
Inhalational Botulism |
|
Fatigue |
ORPHA:254504 |
Diets-Jongmans Syndrome |
|
Seizure, Gliosis, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618846 |
Refractory Anemia With Excess Blasts |
|
Fatigue, Bone pain |
ORPHA:86839 |
Erythrocytosis, Familial, 2 |
|
Fatigue |
OMIM:263400 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Fatigue, Chest pain, Episodic abdominal pain |
ORPHA:276621 |
Listeriosis |
|
Back pain, Fatigue, Ataxia, Abdominal pain, Seizure, Arthralgia, Myalgia, Myoclonus, Chills |
ORPHA:533 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Familial Glucocorticoid Deficiency |
|
Hypoglycemic seizures, Chronic fatigue, Anorexia, Episodic abdominal pain |
ORPHA:361 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Fatigue |
OMIM:615954 |
Juvenile Dermatomyositis |
|
Fatigue, Abdominal pain, Arthralgia, Myalgia, Dysphagia |
ORPHA:93672 |
Macs Syndrome |
|
Fatigue |
OMIM:613075 |
Steinert Myotonic Dystrophy |
|
Fatigue, Short attention span, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk,... |
ORPHA:273 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Exercise intolerance, Fatigue, Difficulty walking |
OMIM:617239 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Fatigue |
OMIM:619234 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Erdheim-Chester Disease |
|
Fatigue, Ataxia, Abdominal pain, Bone pain, Polydipsia |
ORPHA:35687 |
Non-Functioning Pituitary Adenoma |
|
Fatigue, Seizure |
ORPHA:91349 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Attention deficit hyperactivity d... |
ORPHA:8 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Acute Panmyelosis With Myelofibrosis |
|
Fatigue, Low back pain |
ORPHA:86843 |
Bone Marrow Failure Syndrome 6 |
|
Myalgia, Chronic fatigue |
OMIM:618849 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fatigue, Exercise intolerance, Myalgia |
ORPHA:79240 |
Toxic Epidermal Necrolysis |
|
Fatigue, Sudden cardiac death, Abdominal pain, Dysphagia, Polydipsia |
ORPHA:537 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fatigue, Abdominal pain, Bone pain, Arthralgia, Myalgia |
ORPHA:98849 |
Coccidioidomycosis |
|
Fatigue, Seizure, Chest pain, Myalgia, Cognitive impairment |
ORPHA:228123 |
Al Amyloidosis |
|
Fatigue, Dysphagia |
ORPHA:85443 |
Generalized Pustular Psoriasis |
|
Fatigue, Pain, Arthralgia |
ORPHA:247353 |
Congenital Disorder Of Glycosylation, Type It |
|
Fatigue, Exercise intolerance, Sudden cardiac death |
OMIM:614921 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fatigue, Exercise intolerance, Myalgia |
ORPHA:264580 |
Thyroid Hypoplasia |
|
Fatigue |
ORPHA:95720 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Night sweats, Chronic fatigue, Anorexia, Episodic abdominal pain |
ORPHA:100085 |
Q Fever |
|
Fatigue, Night sweats, Myalgia, Anorexia |
ORPHA:781 |
Functioning Gonadotropic Adenoma |
|
Fatigue |
ORPHA:91348 |
Chronic Myeloid Leukemia |
|
Fatigue |
ORPHA:521 |
Carney Triad |
|
Fatigue, Anorexia, Abdominal pain |
ORPHA:139411 |
Klatskin Tumor |
|
Fatigue, Abdominal pain |
ORPHA:99978 |
Addison Disease |
|
Fatigue, Salt craving, Anorexia, Abdominal pain, Seizure, Arthralgia |
ORPHA:85138 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Fatigue |
ORPHA:98870 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Immunodeficiency 58 |
|
Fatigue, Dysphagia |
OMIM:618131 |
Primary Sjögren Syndrome |
|
Fatigue, Chronic pain, Seizure, Dementia, Arthralgia, Myalgia, Cognitive impairment |
ORPHA:289390 |
Plague |
|
Fatigue, Anorexia, Abdominal pain, Unsteady gait, Arthralgia, Chest pain, Chills, Delirium |
ORPHA:707 |
Stevens-Johnson Syndrome |
|
Fatigue, Abdominal pain, Sudden cardiac death, Dysphagia |
ORPHA:36426 |
Cystic Echinococcosis |
|
Fatigue, Epigastric pain |
ORPHA:400 |
African Trypanosomiasis |
|
Fatigue, Rigors, Urinary incontinence, Akinesia, Aggressive behavior, Choreoathetosis, Seizure, A... |
ORPHA:3385 |
Polycythemia Vera |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:729 |
Hellp Syndrome |
|
Back pain, Shoulder pain, Fatigue, Abdominal pain, Epigastric pain |
ORPHA:244242 |
Prolactinoma |
|
Fatigue, Seizure |
ORPHA:2965 |
Isolated Right Ventricular Hypoplasia |
|
Fatigue |
ORPHA:439 |
Congenital Gerbode Defect |
|
Fatigue, Chest pain |
ORPHA:99095 |
Poems Syndrome |
|
Fatigue, Pain |
ORPHA:2905 |
Hermansky-Pudlak Syndrome |
|
Fatigue, Anorexia, Abdominal pain |
ORPHA:79430 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Fatigue, Chest pain, Episodic abdominal pain |
ORPHA:29072 |
Gastrointestinal Stromal Tumor |
|
Fatigue, Dysphagia |
ORPHA:44890 |
Nocardiosis |
|
Fatigue, Anorexia, Ocular pain, Night sweats, Seizure, Chest pain, Chills |
ORPHA:31204 |
Granulomatosis With Polyangiitis |
|
Fatigue, Gangrene, Asthenia, Myalgia |
OMIM:608710 |
Ebstein Malformation Of The Tricuspid Valve |
|
Fatigue, Chest pain, Sudden cardiac death |
ORPHA:1880 |
Autoimmune Hepatitis |
|
Arthralgia, Chronic fatigue, Abdominal pain |
ORPHA:2137 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fatigue, Bone pain, Episodic abdominal pain, Dysphagia, Polydipsia, Mandibular pain |
ORPHA:99880 |
Gaucher Disease |
|
Fatigue, Ataxia, Bilateral tonic-clonic seizure, Abdominal pain, Bone pain, Arthralgia, Dysphagia... |
ORPHA:355 |
Parathyroid Carcinoma |
|
Fatigue, Bone pain, Episodic abdominal pain, Dysphagia, Polydipsia, Mandibular pain |
ORPHA:143 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Fatigue, Chest pain |
ORPHA:747 |
Multiple Myeloma |
|
Fatigue, Bone pain, Elevated circulating creatinine concentration |
ORPHA:29073 |
Lymphoid Interstitial Pneumonia |
|
Fatigue |
ORPHA:79128 |
Gallbladder Neuroendocrine Tumor |
|
Chronic fatigue, Anorexia, Episodic abdominal pain |
ORPHA:100086 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Fatigue |
ORPHA:99832 |
Castleman Disease |
|
Fatigue, Flank pain, Constitutional symptom, Abdominal pain |
ORPHA:160 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Fatigue |
ORPHA:300298 |
Familial Pancreatic Carcinoma |
|
Back pain, Chronic fatigue, Anorexia, Abdominal pain |
ORPHA:1333 |
Granulomatosis With Polyangiitis |
|
Fatigue, Abdominal pain, Seizure, Chest pain, Arthralgia, Myalgia, Gangrene |
ORPHA:900 |
Chikungunya |
|
Fatigue, Shoulder pain, Seizure, Arthralgia, Myalgia, Chills, Knee pain |
ORPHA:324625 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Fatigue |
OMIM:617994 |
Overhydrated Hereditary Stomatocytosis |
|
Fatigue |
OMIM:185000 |
Renal Nutcracker Syndrome |
|
Fatigue, Flank pain, Abdominal pain |
ORPHA:71273 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Fatigue, Bone pain |
OMIM:600740 |
Arterial Tortuosity Syndrome |
|
Fatigue |
ORPHA:3342 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fatigue, Anorexia, Abdominal pain, Flank pain, Ocular pain, Elevated circulating creatinine conce... |
ORPHA:91500 |
Hereditary Xanthinuria |
|
Flank pain, Chronic fatigue |
ORPHA:3467 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Fatigue, Generalized non-motor (absence) seizure |
ORPHA:293978 |
Kikuchi-Fujimoto Disease |
|
Fatigue, Ataxia, Anorexia, Night sweats, Arthralgia, Myalgia, Chills |
ORPHA:50918 |
Acute Transverse Myelitis |
|
Back pain, Fatigue, Gait disturbance, Urinary incontinence |
ORPHA:139417 |